Brittany and her family recently moved from Florida to Toronto after Brittany was diagnosed with Bloom Syndrome. This has caused changes for Brittany including missing her friends and feeling sad about the move. Her brother is also having difficulties adjusting and acting out. As Brittany will be joining the author's preschool class, modifications will need to be made to the physical environment, teaching strategies, and inclusion of Brittany as part of the larger group to help meet her needs related to Bloom Syndrome. The author also discusses connecting Brittany's family to local resources and agencies to help support them as newcomers to the city.
This document discusses autoimmune diseases and provides an overview of key concepts. It covers mechanisms of autoimmunity like central and peripheral tolerance. It also discusses theories of autoimmunity such as susceptibility genes and environmental triggers. The document then describes the spectrum of autoimmune disorders including organ-specific and systemic diseases. It concludes by noting the diagnostic problems associated with autoimmune diseases.
Marfan Syndrome is a genetic disorder of connective tissue caused by mutations in the FBN1 gene resulting in skeletal, ocular, and cardiovascular abnormalities. It is characterized by disproportionately long limbs, joint hypermobility, eye problems like ectopia lentis, and life-threatening issues like aortic aneurysm. Diagnosis is based on clinical assessment using systemic criteria. Management focuses on surveillance and prevention of complications through beta-blockers, surgery, and potentially losartan which may help slow aortic root growth. Prognosis has improved with current treatments but cardiovascular events remain common.
Bloom Syndrome is a rare inherited disorder characterized by short stature, sun sensitive skin changes, and increased cancer risk. It is caused by mutations in the BLM gene, which prevents proper maintenance of genomic stability and leads to excessive chromosome breaks and rearrangements (sister chromatid exchange). There is no cure, but preventative cancer screening and avoiding sun/radiation exposure can help manage risks. Affected individuals typically grow to less than 5 feet and have low birth weight/length.
Monoclonal gammopathies of undetermined significanceDrChirag Parmar
Monoclonal gammopathies of undetermined significance (MGUS) is an asymptomatic pre-malignant disorder characterized by a monoclonal protein level <3 g/dL, bone marrow plasma cells <10%, and no organ damage from the plasma cell disorder. MGUS has a risk of progression to multiple myeloma, amyloidosis, or other related disorders. Larger M-protein level, IgM or IgA type, and abnormal bone marrow plasma cells or serum free light chain ratio indicate a higher risk of progression. MGUS is typically detected incidentally during workup for suspected multiple myeloma. Management involves monitoring for progression through regular bloodwork and testing.
Waldenstrom macroglobulinemia (WM) is a rare type of non-Hodgkin lymphoma where abnormal lymphocytes in the bone marrow produce too much IgM protein, thickening the blood. This causes weakness, fever, enlarged lymph nodes, and other symptoms. Doctors diagnose WM through blood tests, bone marrow biopsies, and imaging to detect IgM protein and bone marrow changes. Treatment options include chemotherapy, plasma exchange, biotherapy, and sometimes radiation therapy, as current treatments do not usually cure WM but rather control it by periods of treatment and breaks as the disease returns.
Gaucher disease is an inherited disorder caused by a deficiency of the glucocerebrosidase enzyme, which causes harmful substances to accumulate in organs. There are several types of Gaucher disease. Type 1 is the most common and usually does not affect the nervous system. Types 2 and 3 do affect the nervous system and can cause neurological problems. Symptoms vary depending on type but may include bone and organ enlargement, fatigue, easy bruising, and lung and heart problems. Diagnosis involves blood tests, imaging, and genetic testing. Treatment options include enzyme replacement therapy and bone marrow transplant for severe cases.
Mitochondrial diseases are caused by defects in mitochondrial structure or enzymes that result in deficient energy production. They can affect multiple organ systems and occur across all age groups. Mitochondrial DNA mutations can be inherited from the mother and nuclear DNA mutations can affect mitochondrial proteins or DNA maintenance. Common mitochondrial diseases include MELAS, MERRF, and Leigh syndrome. Mitochondrial dysfunction has also been implicated in aging and common diseases like heart disease and Parkinson's.
This document discusses retinoblastoma, a cancer that develops in the retina. It describes the genetic and non-genetic forms of the disease. The genetic form is caused by a mutation in the RB1 gene on chromosome 13. For tumor development to occur, both copies of the RB1 gene must be inactivated. The RB protein normally acts to prevent excessive cell growth by inhibiting the cell cycle. Loss of RB function contributes to unregulated cell growth and cancer development. Nearly all cancers involve disruption of the RB pathway that controls the G1 to S phase cell cycle transition.
This document discusses autoimmune diseases and provides an overview of key concepts. It covers mechanisms of autoimmunity like central and peripheral tolerance. It also discusses theories of autoimmunity such as susceptibility genes and environmental triggers. The document then describes the spectrum of autoimmune disorders including organ-specific and systemic diseases. It concludes by noting the diagnostic problems associated with autoimmune diseases.
Marfan Syndrome is a genetic disorder of connective tissue caused by mutations in the FBN1 gene resulting in skeletal, ocular, and cardiovascular abnormalities. It is characterized by disproportionately long limbs, joint hypermobility, eye problems like ectopia lentis, and life-threatening issues like aortic aneurysm. Diagnosis is based on clinical assessment using systemic criteria. Management focuses on surveillance and prevention of complications through beta-blockers, surgery, and potentially losartan which may help slow aortic root growth. Prognosis has improved with current treatments but cardiovascular events remain common.
Bloom Syndrome is a rare inherited disorder characterized by short stature, sun sensitive skin changes, and increased cancer risk. It is caused by mutations in the BLM gene, which prevents proper maintenance of genomic stability and leads to excessive chromosome breaks and rearrangements (sister chromatid exchange). There is no cure, but preventative cancer screening and avoiding sun/radiation exposure can help manage risks. Affected individuals typically grow to less than 5 feet and have low birth weight/length.
Monoclonal gammopathies of undetermined significanceDrChirag Parmar
Monoclonal gammopathies of undetermined significance (MGUS) is an asymptomatic pre-malignant disorder characterized by a monoclonal protein level <3 g/dL, bone marrow plasma cells <10%, and no organ damage from the plasma cell disorder. MGUS has a risk of progression to multiple myeloma, amyloidosis, or other related disorders. Larger M-protein level, IgM or IgA type, and abnormal bone marrow plasma cells or serum free light chain ratio indicate a higher risk of progression. MGUS is typically detected incidentally during workup for suspected multiple myeloma. Management involves monitoring for progression through regular bloodwork and testing.
Waldenstrom macroglobulinemia (WM) is a rare type of non-Hodgkin lymphoma where abnormal lymphocytes in the bone marrow produce too much IgM protein, thickening the blood. This causes weakness, fever, enlarged lymph nodes, and other symptoms. Doctors diagnose WM through blood tests, bone marrow biopsies, and imaging to detect IgM protein and bone marrow changes. Treatment options include chemotherapy, plasma exchange, biotherapy, and sometimes radiation therapy, as current treatments do not usually cure WM but rather control it by periods of treatment and breaks as the disease returns.
Gaucher disease is an inherited disorder caused by a deficiency of the glucocerebrosidase enzyme, which causes harmful substances to accumulate in organs. There are several types of Gaucher disease. Type 1 is the most common and usually does not affect the nervous system. Types 2 and 3 do affect the nervous system and can cause neurological problems. Symptoms vary depending on type but may include bone and organ enlargement, fatigue, easy bruising, and lung and heart problems. Diagnosis involves blood tests, imaging, and genetic testing. Treatment options include enzyme replacement therapy and bone marrow transplant for severe cases.
Mitochondrial diseases are caused by defects in mitochondrial structure or enzymes that result in deficient energy production. They can affect multiple organ systems and occur across all age groups. Mitochondrial DNA mutations can be inherited from the mother and nuclear DNA mutations can affect mitochondrial proteins or DNA maintenance. Common mitochondrial diseases include MELAS, MERRF, and Leigh syndrome. Mitochondrial dysfunction has also been implicated in aging and common diseases like heart disease and Parkinson's.
This document discusses retinoblastoma, a cancer that develops in the retina. It describes the genetic and non-genetic forms of the disease. The genetic form is caused by a mutation in the RB1 gene on chromosome 13. For tumor development to occur, both copies of the RB1 gene must be inactivated. The RB protein normally acts to prevent excessive cell growth by inhibiting the cell cycle. Loss of RB function contributes to unregulated cell growth and cancer development. Nearly all cancers involve disruption of the RB pathway that controls the G1 to S phase cell cycle transition.
Autoimmune hemolytic anemia (or autoimmune haemolytic anaemia; AIHA) occurs when antibodies directed against the person's own red blood cells (RBCs) cause them to burst (lyse), leading to insufficient plasma concentration.
This document provides information on chronic myelogenous leukemia (CML), including its definition, history, epidemiology, etiology, pathogenesis, clinical features, diagnosis, disease course, treatment, and more. Some key points:
- CML is a stem cell disease characterized by increased white blood cells, anemia, splenomegaly, and the Philadelphia chromosome.
- It has three phases: chronic, accelerated, and blast crisis. Treatment depends on the phase and may include tyrosine kinase inhibitors like imatinib, interferon, chemotherapy, and stem cell transplantation.
- The disease is caused by the BCR-ABL fusion gene which results in uncontrolled tyrosine kinase activity and increased proliferation of
This document provides information about Angelman Syndrome, a rare genetic disorder caused by defects on chromosome 15. It affects 1 in 15,000 people and causes developmental delays, seizures, lack of speech, and frequent smiling/laughter. The disorder results from errors in genes on the maternal chromosome. Researchers are working to find treatments, with some success curing AS in mice. Foundations like FAST and ASF provide support for families and fund research seeking a cure. The document concludes with one family's story of receiving an AS diagnosis for their son Joey and their determination to help find a cure.
Prader-Willi syndrome is a genetic disorder caused by abnormalities on chromosome 15 that results in problems with weight control and behavior. It is characterized by low muscle tone, short stature, cognitive disabilities, and an insatiable appetite that can lead to morbid obesity if not controlled. Treatment requires strict dietary management, behavioral therapy, and lifestyle modifications to address excessive eating and weight gain.
Fragile X syndrome is a genetic disorder caused by a mutation on the X chromosome involving expansion of the CGG repeat region in the FMR1 gene. This results in reduced or absent FMRP protein which is important for neural development. Symptoms can include intellectual disabilities, autism-like behaviors, large testes in males, and physical features like prominent ears and flat feet. It is typically diagnosed through genetic testing. While there is no cure, early intervention including therapies can help maximize learning and development.
Multiple myeloma is a cancer of plasma cells that is characterized by malignant proliferation of a single clone of plasma cells in the bone marrow. It most commonly affects bones and can cause bone pain, fractures, anemia, renal failure and recurrent infections. Diagnosis involves blood and urine tests showing monoclonal proteins and bone marrow biopsy with over 30% plasma cells. Treatment involves chemotherapy, stem cell transplantation, radiation, steroids and supportive care. Newer targeted therapies are improving outcomes for patients.
Autoimmune DIseases : Types, Mechanism, Diagnosis, TreatmentDr Mehul Dave
This is a presentation useful to learners of immunology as well as acadeicians. Useful in undergraduate as well as postgraduate courses. NEET students/Teachers can also get advantage of it.
This document provides an overview of hematopoietic stem cell transplantation (HSCT). It defines hematopoietic stem cells and HSCT, and describes the types of transplants including autologous and allogenic. The key indications for each type are outlined. The process of HSCT is summarized, including donor selection, stem cell collection, cryopreservation, conditioning chemotherapy, stem cell infusion, and engraftment recovery. Post-transplant complications and supportive care measures are briefly discussed.
This document summarizes Digeorge syndrome, which is caused by a genetic mutation on the 22nd chromosome that results in the deletion of a portion of it. Key characteristics include poor development of body systems due to a shrunken or missing thymus gland, which can cause issues with the immune system and other organ development. It occurs in about 1 in 4,000 births and is a lifelong condition.
chronic myeloid leukemia, CML, epidemiology, BCR ABL1 gene, philadelphia chromosome, t(9;22), CML incidence, etiology of CML, pathophysiology of CML, phases of CML, treatment of CML, Allogenic stem cell transplant, TKI therapy for CML, Sokal index for CML,
This case presentation describes a 55-year-old male referred for management of severe anemia. He has a history of recurrent kidney stones, hypertension, diabetes, and back pain. Laboratory tests reveal severe anemia with rouleaux formation. Further workup shows evidence of a gammopathy. A bone marrow biopsy is needed to confirm a diagnosis of multiple myeloma, which can cause anemia and kidney damage through paraprotein production and bone lesions. Treatment involves supportive care, chemotherapy, and stem cell transplantation in eligible patients.
This document discusses spondyloarthritis (SpA), a group of inflammatory diseases that share features like axial joint inflammation, asymmetric oligoarthritis, and enthesitis. The main types of SpA are ankylosing spondylitis, psoriatic arthritis, undifferentiated spondyloarthritis, and reactive arthritis associated with inflammatory bowel disease. SpA is strongly associated with the HLA-B27 gene. Clinical features include inflammatory back pain, peripheral arthritis, enthesitis, dactylitis, and eye and bowel inflammation. Diagnosis involves assessing clinical features, lab tests like elevated CRP/ESR and HLA-B27 status, and imaging of the sacroiliac joints and spine
Myelodysplastic syndrome according to WHO 2016Madhuri Reddy
The document defines myelodysplastic syndromes as a group of clonal stem cell diseases characterized by cytopenia, dysplasia in one or more myeloid lineages, ineffective hematopoiesis, recurrent genetic abnormalities, and an increased risk of developing acute myeloid leukemia. It discusses the epidemiology, etiology, pathophysiology, cytogenetics, morphological features, clinical features, WHO classification, differential diagnosis, variants, immunophenotyping, management, and prognosis of MDS. The document provides details on the definition, evaluation, classification, genetic abnormalities, and clinical manifestations of myelodysplastic syndromes.
1) Tumor suppressor genes normally apply brakes to cell proliferation through proteins that form checkpoints to prevent uncontrolled growth. Loss of function of these genes allows tumor development.
2) The proteins encoded by tumor suppressor genes regulate cell cycle control, apoptosis, and cell survival/growth through mechanisms like transcription factors, cell cycle inhibitors, and DNA damage response.
3) Famous tumor suppressor genes include RB, p53, APC, and WT1. Mutation of both copies is required for loss of function, leading to cancers like retinoblastoma, Li-Fraumeni syndrome, colon cancer, and Wilms tumor.
Lysosomal storage diseases are caused by a lack of enzymes in lysosomes that normally break down unwanted substances in cells. This causes substances to build up and damage cells over time, leading to progressive physical and mental deterioration. There are over 40 types of lysosomal diseases that vary in severity from mild to fatal. The prognosis depends on the type and severity of the disease, with typical forms causing a full set of symptoms and reduced life expectancy of around 15 years.
This document discusses multiple myeloma, a plasma cell disorder. It begins with an overview of plasma cell disorders and defines multiple myeloma. It then covers the epidemiology, etiology, pathophysiology, clinical features, diagnostic tests including serum protein electrophoresis and immunofixation, bone marrow examination, skeletal survey, staging, prognostic factors. It also discusses related conditions like monoclonal gammopathy of undetermined significance, smoldering myeloma, non-secretory myeloma, solitary plasmacytoma, extramedullary plasmacytoma. It concludes with discussing criteria for diagnosing multiple myeloma and initial treatment approaches.
Sickle cell anemia is caused by a genetic mutation that results in abnormal hemoglobin called HbS. When HbS is deoxygenated, it polymerizes inside red blood cells, causing them to take on a sickle or holly leaf shape. This leads to hemolysis, anemia, vaso-occlusive crises involving painful blockages in small blood vessels, and organ damage. The condition is most common where malaria is endemic, as the sickle cell trait provides resistance to that disease. Laboratory testing can demonstrate sickle cells on blood smears and the presence of HbS on electrophoresis.
The document discusses different patterns of inheritance for single gene disorders:
- Autosomal dominant disorders are expressed when only one copy of the abnormal gene is present and there is a 50% chance of passing it to offspring. Examples include Huntington's disease.
- Autosomal recessive disorders require two copies of the abnormal gene to be expressed and carriers can be unaffected. Examples include many inborn errors of metabolism.
- X-linked disorders are sex-linked, with recessive disorders mostly affecting males and dominant disorders affecting females. Examples include G6PD deficiency and vitamin D-resistant rickets.
The document discusses chronic lymphocytic leukemia (CLL), including its definition, epidemiology, etiology, pathogenesis, clinical symptoms, diagnosis, staging, prognosis, and treatment. Some key points:
- CLL is characterized by the proliferation and accumulation of small, mature lymphocytes in the blood, bone marrow, and lymphoid tissues. It most commonly affects elderly adults.
- Diagnosis is based on blood cell counts and immunophenotyping of lymphocytes. Prognosis depends on factors like clinical stage, genomic abnormalities, and biomarker expression levels.
- Treatment involves chemotherapy, chemoimmunotherapy, targeted therapies, and supportive care. The appropriate treatment approach depends on a patient's risk
Chronic myeloid leukemia (CML) is a type of leukemia caused by a genetic abnormality known as the Philadelphia chromosome. This abnormality results from the translocation of parts of chromosomes 9 and 22, producing the BCR-ABL fusion gene which encodes a tyrosine kinase that drives excessive white blood cell growth. CML progresses through three phases - chronic, accelerated, and blast crisis - and is typically diagnosed based on blood tests and the presence of the Philadelphia chromosome or BCR-ABL gene. Treatment involves tyrosine kinase inhibitors like imatinib, with the goal of achieving cytogenetic and molecular responses to control the disease.
Bloom's Syndrome is a rare autosomal recessive genetic disorder where the average life expectancy is 24 years old. It causes short stature, low weight, rashes from sun exposure that prevent sports participation, low fertility in women, and increased risk of cancer and diabetes. While the disorder itself may not be fatal, individuals with Bloom's Syndrome often die from other conditions it increases susceptibility to, though treatment can help extend lifespan for each person.
Bloom syndrome is a rare genetic disorder characterized by dwarfism, a reddish skin rash sensitive to sunlight, and a predisposition to various cancers. It is caused when mutations in both copies of the BLM gene are inherited from asymptomatic carrier parents. Approximately 1 in 50,000 people have Bloom syndrome, with about one-third of cases occurring in those of Ashkenazi Jewish descent. While bone marrow transplants may help in some cases, there is currently no cure for Bloom syndrome.
Autoimmune hemolytic anemia (or autoimmune haemolytic anaemia; AIHA) occurs when antibodies directed against the person's own red blood cells (RBCs) cause them to burst (lyse), leading to insufficient plasma concentration.
This document provides information on chronic myelogenous leukemia (CML), including its definition, history, epidemiology, etiology, pathogenesis, clinical features, diagnosis, disease course, treatment, and more. Some key points:
- CML is a stem cell disease characterized by increased white blood cells, anemia, splenomegaly, and the Philadelphia chromosome.
- It has three phases: chronic, accelerated, and blast crisis. Treatment depends on the phase and may include tyrosine kinase inhibitors like imatinib, interferon, chemotherapy, and stem cell transplantation.
- The disease is caused by the BCR-ABL fusion gene which results in uncontrolled tyrosine kinase activity and increased proliferation of
This document provides information about Angelman Syndrome, a rare genetic disorder caused by defects on chromosome 15. It affects 1 in 15,000 people and causes developmental delays, seizures, lack of speech, and frequent smiling/laughter. The disorder results from errors in genes on the maternal chromosome. Researchers are working to find treatments, with some success curing AS in mice. Foundations like FAST and ASF provide support for families and fund research seeking a cure. The document concludes with one family's story of receiving an AS diagnosis for their son Joey and their determination to help find a cure.
Prader-Willi syndrome is a genetic disorder caused by abnormalities on chromosome 15 that results in problems with weight control and behavior. It is characterized by low muscle tone, short stature, cognitive disabilities, and an insatiable appetite that can lead to morbid obesity if not controlled. Treatment requires strict dietary management, behavioral therapy, and lifestyle modifications to address excessive eating and weight gain.
Fragile X syndrome is a genetic disorder caused by a mutation on the X chromosome involving expansion of the CGG repeat region in the FMR1 gene. This results in reduced or absent FMRP protein which is important for neural development. Symptoms can include intellectual disabilities, autism-like behaviors, large testes in males, and physical features like prominent ears and flat feet. It is typically diagnosed through genetic testing. While there is no cure, early intervention including therapies can help maximize learning and development.
Multiple myeloma is a cancer of plasma cells that is characterized by malignant proliferation of a single clone of plasma cells in the bone marrow. It most commonly affects bones and can cause bone pain, fractures, anemia, renal failure and recurrent infections. Diagnosis involves blood and urine tests showing monoclonal proteins and bone marrow biopsy with over 30% plasma cells. Treatment involves chemotherapy, stem cell transplantation, radiation, steroids and supportive care. Newer targeted therapies are improving outcomes for patients.
Autoimmune DIseases : Types, Mechanism, Diagnosis, TreatmentDr Mehul Dave
This is a presentation useful to learners of immunology as well as acadeicians. Useful in undergraduate as well as postgraduate courses. NEET students/Teachers can also get advantage of it.
This document provides an overview of hematopoietic stem cell transplantation (HSCT). It defines hematopoietic stem cells and HSCT, and describes the types of transplants including autologous and allogenic. The key indications for each type are outlined. The process of HSCT is summarized, including donor selection, stem cell collection, cryopreservation, conditioning chemotherapy, stem cell infusion, and engraftment recovery. Post-transplant complications and supportive care measures are briefly discussed.
This document summarizes Digeorge syndrome, which is caused by a genetic mutation on the 22nd chromosome that results in the deletion of a portion of it. Key characteristics include poor development of body systems due to a shrunken or missing thymus gland, which can cause issues with the immune system and other organ development. It occurs in about 1 in 4,000 births and is a lifelong condition.
chronic myeloid leukemia, CML, epidemiology, BCR ABL1 gene, philadelphia chromosome, t(9;22), CML incidence, etiology of CML, pathophysiology of CML, phases of CML, treatment of CML, Allogenic stem cell transplant, TKI therapy for CML, Sokal index for CML,
This case presentation describes a 55-year-old male referred for management of severe anemia. He has a history of recurrent kidney stones, hypertension, diabetes, and back pain. Laboratory tests reveal severe anemia with rouleaux formation. Further workup shows evidence of a gammopathy. A bone marrow biopsy is needed to confirm a diagnosis of multiple myeloma, which can cause anemia and kidney damage through paraprotein production and bone lesions. Treatment involves supportive care, chemotherapy, and stem cell transplantation in eligible patients.
This document discusses spondyloarthritis (SpA), a group of inflammatory diseases that share features like axial joint inflammation, asymmetric oligoarthritis, and enthesitis. The main types of SpA are ankylosing spondylitis, psoriatic arthritis, undifferentiated spondyloarthritis, and reactive arthritis associated with inflammatory bowel disease. SpA is strongly associated with the HLA-B27 gene. Clinical features include inflammatory back pain, peripheral arthritis, enthesitis, dactylitis, and eye and bowel inflammation. Diagnosis involves assessing clinical features, lab tests like elevated CRP/ESR and HLA-B27 status, and imaging of the sacroiliac joints and spine
Myelodysplastic syndrome according to WHO 2016Madhuri Reddy
The document defines myelodysplastic syndromes as a group of clonal stem cell diseases characterized by cytopenia, dysplasia in one or more myeloid lineages, ineffective hematopoiesis, recurrent genetic abnormalities, and an increased risk of developing acute myeloid leukemia. It discusses the epidemiology, etiology, pathophysiology, cytogenetics, morphological features, clinical features, WHO classification, differential diagnosis, variants, immunophenotyping, management, and prognosis of MDS. The document provides details on the definition, evaluation, classification, genetic abnormalities, and clinical manifestations of myelodysplastic syndromes.
1) Tumor suppressor genes normally apply brakes to cell proliferation through proteins that form checkpoints to prevent uncontrolled growth. Loss of function of these genes allows tumor development.
2) The proteins encoded by tumor suppressor genes regulate cell cycle control, apoptosis, and cell survival/growth through mechanisms like transcription factors, cell cycle inhibitors, and DNA damage response.
3) Famous tumor suppressor genes include RB, p53, APC, and WT1. Mutation of both copies is required for loss of function, leading to cancers like retinoblastoma, Li-Fraumeni syndrome, colon cancer, and Wilms tumor.
Lysosomal storage diseases are caused by a lack of enzymes in lysosomes that normally break down unwanted substances in cells. This causes substances to build up and damage cells over time, leading to progressive physical and mental deterioration. There are over 40 types of lysosomal diseases that vary in severity from mild to fatal. The prognosis depends on the type and severity of the disease, with typical forms causing a full set of symptoms and reduced life expectancy of around 15 years.
This document discusses multiple myeloma, a plasma cell disorder. It begins with an overview of plasma cell disorders and defines multiple myeloma. It then covers the epidemiology, etiology, pathophysiology, clinical features, diagnostic tests including serum protein electrophoresis and immunofixation, bone marrow examination, skeletal survey, staging, prognostic factors. It also discusses related conditions like monoclonal gammopathy of undetermined significance, smoldering myeloma, non-secretory myeloma, solitary plasmacytoma, extramedullary plasmacytoma. It concludes with discussing criteria for diagnosing multiple myeloma and initial treatment approaches.
Sickle cell anemia is caused by a genetic mutation that results in abnormal hemoglobin called HbS. When HbS is deoxygenated, it polymerizes inside red blood cells, causing them to take on a sickle or holly leaf shape. This leads to hemolysis, anemia, vaso-occlusive crises involving painful blockages in small blood vessels, and organ damage. The condition is most common where malaria is endemic, as the sickle cell trait provides resistance to that disease. Laboratory testing can demonstrate sickle cells on blood smears and the presence of HbS on electrophoresis.
The document discusses different patterns of inheritance for single gene disorders:
- Autosomal dominant disorders are expressed when only one copy of the abnormal gene is present and there is a 50% chance of passing it to offspring. Examples include Huntington's disease.
- Autosomal recessive disorders require two copies of the abnormal gene to be expressed and carriers can be unaffected. Examples include many inborn errors of metabolism.
- X-linked disorders are sex-linked, with recessive disorders mostly affecting males and dominant disorders affecting females. Examples include G6PD deficiency and vitamin D-resistant rickets.
The document discusses chronic lymphocytic leukemia (CLL), including its definition, epidemiology, etiology, pathogenesis, clinical symptoms, diagnosis, staging, prognosis, and treatment. Some key points:
- CLL is characterized by the proliferation and accumulation of small, mature lymphocytes in the blood, bone marrow, and lymphoid tissues. It most commonly affects elderly adults.
- Diagnosis is based on blood cell counts and immunophenotyping of lymphocytes. Prognosis depends on factors like clinical stage, genomic abnormalities, and biomarker expression levels.
- Treatment involves chemotherapy, chemoimmunotherapy, targeted therapies, and supportive care. The appropriate treatment approach depends on a patient's risk
Chronic myeloid leukemia (CML) is a type of leukemia caused by a genetic abnormality known as the Philadelphia chromosome. This abnormality results from the translocation of parts of chromosomes 9 and 22, producing the BCR-ABL fusion gene which encodes a tyrosine kinase that drives excessive white blood cell growth. CML progresses through three phases - chronic, accelerated, and blast crisis - and is typically diagnosed based on blood tests and the presence of the Philadelphia chromosome or BCR-ABL gene. Treatment involves tyrosine kinase inhibitors like imatinib, with the goal of achieving cytogenetic and molecular responses to control the disease.
Bloom's Syndrome is a rare autosomal recessive genetic disorder where the average life expectancy is 24 years old. It causes short stature, low weight, rashes from sun exposure that prevent sports participation, low fertility in women, and increased risk of cancer and diabetes. While the disorder itself may not be fatal, individuals with Bloom's Syndrome often die from other conditions it increases susceptibility to, though treatment can help extend lifespan for each person.
Bloom syndrome is a rare genetic disorder characterized by dwarfism, a reddish skin rash sensitive to sunlight, and a predisposition to various cancers. It is caused when mutations in both copies of the BLM gene are inherited from asymptomatic carrier parents. Approximately 1 in 50,000 people have Bloom syndrome, with about one-third of cases occurring in those of Ashkenazi Jewish descent. While bone marrow transplants may help in some cases, there is currently no cure for Bloom syndrome.
Werner Syndrome is a rare genetic disorder caused by a mutation in the WRN gene, which encodes an enzyme involved in DNA replication and repair. It causes rapid aging beginning at puberty, with symptoms including gray hair, hair loss, cataracts, diabetes, and osteoporosis in one's 20s and 30s. Life expectancy is typically around 48 years of age due to increased cancer risk. It most commonly affects 1 in 200,000 individuals in the US and 1 in 20,000-40,000 individuals in Japan.
Werner syndrome is a rare, autosomal recessive progeroid syndrome characterized by premature aging symptoms. It causes growth retardation, premature graying of hair, wrinkling of skin, abnormal fat deposition, skin atrophy, skin ulceration, infertility, arteriosclerosis, calcinosis, atherosclerosis, diabetes mellitus, and telangiectasia. It is caused by mutations in the WRN gene which encodes a protein involved in DNA repair. While there is no cure for Werner syndrome, vitamin C supplementation in mice showed benefits and patients are treated based on symptoms to increase lifespan and quality of life.
Werner syndrome is a rare genetic disorder characterized by premature aging symptoms beginning in early adulthood such as graying hair, a thin body build, and bird-like facial features. It is caused by mutations in the WRN gene and inherited in an autosomal recessive pattern. People with Werner syndrome typically die of heart disease or cancer in their late 40s or early 50s as their bodies age at an accelerated rate. There is no cure for Werner syndrome, but managing health conditions like diabetes and monitoring cholesterol levels is recommended.
Media & Learning What Parents Should Know!By Yongping YeHomAbramMartino96
This webpage provides information and resources for parents and teachers on how the COVID-19 pandemic has impacted education. It discusses the science behind how stressful situations can negatively impact children's learning and development. It also explores developmental theories from Bronfenbrenner and Bjorklund that help explain the effects of the pandemic. The webpage recommends activities for engaging with children remotely and maintaining their well-being during this time. It aims to help audiences understand the educational challenges of the pandemic and find ways to support children's learning from a developmental perspective.
Brittany and her family have moved from Florida to Toronto after Brittany's diagnosis with Bloom Syndrome. Brittany is feeling sad about missing her friends, while her brother is angry and blaming Brittany for the move. The family asks the teacher for help meeting Brittany and her family's needs as they adjust to the new city and school.
1 S o c i a l i z a t i o n SOCIALIZATION Learning .docxcroftsshanon
1 | S o c i a l i z a t i o n
SOCIALIZATION
Learning Outcomes
At the end of this chapter you will be able to do the following.
Define socialization.
Compare nature and nurture as socialization influences.
Identify agents and agencies of socialization.
Evaluate the study of cases of feral children in terms of their importance to our
knowledge of socialization.
Recall and define the steps in determining a self-concept.
Evaluate Dramaturgy for its application to every day life.
WHAT IS SOCIALIZATION?
Socialization is the process by which people learn characteristics of their group’s norms,
values, attitudes, and behaviors. Through socialization we learn the culture of the society
into which we have been born. In the course of this process, a personality develops. A
personality is comprised of patterns of behavior and ways of thinking and feeling that are
distinctive for each individual.
Babies are not born with the social or
emotional tools needed to contribute to
society as properly functioning social actors.
They have to learn all the nuances of proper
behavior, how to meet expectations for what
is expected of them, and everything else
needed to become members of society. As
newborns interact with family and friends
they learn the expectations of their society
(family, community, state, and nation).
From the first moments of life, children begin a process of socialization wherein parents,
family, and friends establish an infant’s social construction of reality, or what people
define as real because of their background assumptions and life experiences with others. An
average U.S. child’s social construction of reality includes knowledge that he or she belongs,
and can depend on others to meet his or her needs. It also includes the privileges and
obligations that accompany membership in his or her family and community. In a typical
set of social circumstances, children grow up through a predictable set of life stages:
infancy, preschool, K-12 school years, young adulthood, adulthood, middle adulthood, and
finally later-life adulthood. Most will leave home as young adults, find a spouse or life
partner in their mid-to late 20s and work in a job for pay.
2 | S o c i a l i z a t i o n
THREE LEVELS OF SOCIALIZATION
When discussing the average U.S. child, most agree that the most imperative socialization
takes place early in life and in identifiable levels. Primary socialization typically begins at
birth and moves forward until the beginning of the school years. Primary socialization
includes all the ways the newborn is molded into a social being capable of interacting in and
meeting the expectations of society. Most primary socialization is facilitated by the family,
friends, day care, and to a certain degree various forms of media. Children watch about
three hours of TV per day (by the time the average child attends kindergarten she has
watched about 5,000 hours of TV.
1 S o c i a l i z a t i o n SOCIALIZATION Learning .docxjeremylockett77
1 | S o c i a l i z a t i o n
SOCIALIZATION
Learning Outcomes
At the end of this chapter you will be able to do the following.
Define socialization.
Compare nature and nurture as socialization influences.
Identify agents and agencies of socialization.
Evaluate the study of cases of feral children in terms of their importance to our
knowledge of socialization.
Recall and define the steps in determining a self-concept.
Evaluate Dramaturgy for its application to every day life.
WHAT IS SOCIALIZATION?
Socialization is the process by which people learn characteristics of their group’s norms,
values, attitudes, and behaviors. Through socialization we learn the culture of the society
into which we have been born. In the course of this process, a personality develops. A
personality is comprised of patterns of behavior and ways of thinking and feeling that are
distinctive for each individual.
Babies are not born with the social or
emotional tools needed to contribute to
society as properly functioning social actors.
They have to learn all the nuances of proper
behavior, how to meet expectations for what
is expected of them, and everything else
needed to become members of society. As
newborns interact with family and friends
they learn the expectations of their society
(family, community, state, and nation).
From the first moments of life, children begin a process of socialization wherein parents,
family, and friends establish an infant’s social construction of reality, or what people
define as real because of their background assumptions and life experiences with others. An
average U.S. child’s social construction of reality includes knowledge that he or she belongs,
and can depend on others to meet his or her needs. It also includes the privileges and
obligations that accompany membership in his or her family and community. In a typical
set of social circumstances, children grow up through a predictable set of life stages:
infancy, preschool, K-12 school years, young adulthood, adulthood, middle adulthood, and
finally later-life adulthood. Most will leave home as young adults, find a spouse or life
partner in their mid-to late 20s and work in a job for pay.
2 | S o c i a l i z a t i o n
THREE LEVELS OF SOCIALIZATION
When discussing the average U.S. child, most agree that the most imperative socialization
takes place early in life and in identifiable levels. Primary socialization typically begins at
birth and moves forward until the beginning of the school years. Primary socialization
includes all the ways the newborn is molded into a social being capable of interacting in and
meeting the expectations of society. Most primary socialization is facilitated by the family,
friends, day care, and to a certain degree various forms of media. Children watch about
three hours of TV per day (by the time the average child attends kindergarten she has
watched about 5,000 hours of TV ...
4080 Current Events and Child Development Paper.docxAliBullock1
The coronavirus pandemic has impacted the development of children ages 5-9 in several key ways:
1) Daily life changed dramatically with school closures, lack of socialization, and mandated social distancing and masks. This disrupted their physical, social, and learning environments.
2) Brain development may have been hindered by the loss of in-person learning support and increased stress at home. Emotional development also suffered without peer socialization opportunities.
3) Physical health declined for some as access to nutritious meals decreased and sedentary behaviors increased while stuck at home.
ASSESSMENT OF THE FACTORS RESPONSIBLE FOR CHILD ABUSE AND NEGLECT IN NIGERIA....ResearchWap
It has been the general assumption that children with reasonable physical care would grow into normal happy adulthood. But scientific investigations by psychologists, sociologist and psychiatrists regarding personality development has uncovered the greater importance of growing up and its lasting effects on the total personality of a person. Adult personality has its root in childhood. What we can do as adults are largely determined by the ways in which we were allowed to experience inevitable events of childhood.
Thus the aim of this research work is to shed more light on the issue of child abuse and neglect in Kaduna South Local Government of Kaduna State.
A child is neglected when he lacks continuous physical and emotional contact with his mother. Children under this category may be due to the loss of a mother or both parents or the separation of both parents, this child may be sent to nursery school or orphanages with many children which makes it difficult for special individual attention to be rendered to each child. Those children are therefore brought up by strangers which could be changed at different times due to the shift of their studies.
Child abuse on the other hand can be defined as the portion of harm to children that result from human action or inaction that is prescribed, proximate and preventable. The definition recognizes that such harm is no accident but something perpetrated on children by others, usually intestinally and that the actors inflicting this harm do not enjoy society's approval. It is also pointed out that abuse generally comes from the child's immediate environment and that it is preventable child neglect is a passive form of maltreatment or abuse UNICEF (1986).
Promoting Successful Home-to-School Transitions for Military Families with Yo...milfamln
This webinar will focus on promoting positive transitions from home to school and from school to school (e.g., during a move) for young children and their families. The presenters will identify important transitions that occur during early childhood including moving from home to school or school to school and discuss what research indicates regarding how these transitions play a role in children’s socioemotional and cognitive development. The challenges that exist within these transitions will be identified.
Presenters will describe and promote participant discussion of a range of research-based strategies for military families and caregivers/teachers to promote effective home-to-school/school-to-school transitions, strategies that promote positive socioemotional or cognitive development prior to, during, and after a transition. These will include how to connect with schools/teachers from a distance, moving, creating routines within transitions. The presentation will include a question and answer session immediately following.
The document discusses the impacts of the COVID-19 pandemic on child development during middle childhood (ages 5-9). Using the framework of developmental psychopathology, it analyzes effects in multiple domains: increased anxiety/depression due to isolation; decreased inhibitory control from excessive technology use; and higher obesity risk from sedentary lifestyles. It argues teachers and parents must help children offset negative impacts through limiting screen time, encouraging physical activity, and facilitating mental health discussions. Individual temperament also influences children's risk levels for issues like anxiety.
The Right to Die should be considered Right - GCSE English - Marked by .... The Right to Die: Constitutional and Statutory Analysis - UNT Digital .... Should we have a right to die? - A-Level Religious Studies & Philosophy .... ⇉Nelson Mandela’s Speech “I Am Prepared to Die” Analysis Essay Example .... For or against Death Penalty? - GCSE English - Marked by Teachers.com. The Death Penalty is not inhumane, do you agree? - GCSE English .... Writing a reference book - Approved Custom Essay Writing Service You .... Everyone has the right to an easy death. - GCSE Religious Studies .... Writing to Argue- Should the death penalty be reinstated? - GCSE .... The Right to Die Essay | Terminal Illness | Coma. Should we Have the Right to Die? | TpT. 1995Obs...115...78S Page 80 | Essay examples, Right to die, Essay writing. PPT - Ethics PowerPoint Presentation, free download - ID:245287. Legal and Ethical Issues Concerning Euthanasia Essay Example | Topics .... The right to die class powerpoint. "The Right to Die" - Read Theory Workbooks. The Death Penalty: Right or Wrong? - PHDessay.com. Thesis Statement On Death And Dying — Is It Reasonable to Be Afraid of .... The right to die - 385 Words - NerdySeal. Argumentative Essay For Euthanasia For Humans - takeoffdynamics’s blog. Right to die issue essays for scholarships. Right To Die Essay – Telegraph.
Social media and television can have both positive and negative effects on children's development. Positively, media can educate children about different cultures and inspire them. However, it can also expose children to inappropriate content and potentially lead to issues like cyberbullying, addiction, and negative health effects from excessive use. As a parent, it is important to monitor what children are exposed to online and on television, set limits on screen time, and encourage educational and active use of media.
The document discusses research that proves poverty and lack of social support can negatively impact childhood development and outcomes. Multiple studies show that poverty is linked to worse performance in school, lower IQs, more aggressive behaviors, and a higher risk of abuse and neglect. However, strengthening social programs like early education funding and better living conditions can help break this cycle by improving outcomes for disadvantaged children. The document argues this research proves the importance of maintaining a robust social safety net.
The TALIK TALK! Booklet contains articles related to all the 6 episodes. It contains topics related to sex education in more detail and serves as another way to obtain information. This will be printable so that it is accessible even without internet connection.
Early Literacy and closing the GAPJazmine BrownleeWalden UEvonCanales257
Early Literacy and closing the GAP
Jazmine Brownlee
Walden University
EDDD 8085/EDSD 7085: Inspired Leadership, Informed Advocacy, and Improved Policy
Dr. Beryl Watnick
August 1, 2022
1
Outline
As you go through the presentation, you all will understand my purpose for conducting this professional development. I will provide a general overview of why following each step is imperative to closing the literacy gap. I will discuss how teaching resilience, building relationships, building culturally responsive classrooms, and RTI supports closing the literacy gap among young children. Finally, resources will be provided in order to support educators in closing the gap.
2
Purpose
General Overview
Teaching Resilience
Closing the Literacy Gap
Building Relationships
Resources
Building Culturally Responsive Classrooms
My Purpose
Advocating for young children should be a leader’s main priority to ensure that they become lifelong learners beyond the classroom. There are a plethora of ways to ensure success amongst young learners. Many leaders advocate for change in ways that they see as best or are passionate about. When someone is passionate about a particular change, they will do what is needed to promote change. I have always been passionate about closing the literacy gap amongst young readers. I have noticed that there is a major gap in literacy, especially in low economically challenged communities. I have taught second-grade EIP self-contained classrooms for years. Every year, I have heard from the administration that I should expect little to no growth from these students because they are too far behind or not capable of making real growth. I couldn’t believe what I heard because all children are capable of learning if given the necessary tools to succeed. Therefore, I am providing this professional development to give teachers tools for advocating for young children and supporting closing the literacy gap. This will hopefully change the mindset of all educators as well as administrators who believe children are just too far behind to catch up or able to learn.
3
Advocating for Young Children
Closing the Literacy Gap
All Children are Capable of Learning
Changing the Mindset of Educators
Overview of Closing the literacy gap!
Building Relationships
Advocating for closing the literacy gaps amongst all children is important for children, families, professionals, and the field of early childhood education. By aiding in closing the literacy gap, it can support more children in becoming lifelong learners beyond the classroom and minimize the number of high school dropouts. It also teaches the students how to be resilient and bounce back from adversity. Furthermore, it can also provide families with peace of mind that their child is getting the best possible education and support needed to help their child at home. Having a home-school relationship can also help bridge the literacy gap in primary-aged chil ...
A Critical Analysis of the Principles of Nurture and its Impact on LearningBetty Wakia (白丽)
The nurture groups are small structured teaching or learning groups of 6 to 12 students that supported by two adults staffed to provide social, emotional and behavioral difficulties (SEBD) in a mainstream early years settings, primary or secondary schools. The nurture groups are known as a safe place for the unique developmental need of each child’s are met and continuously provides assessment through the Boxall Profile to modified curriculum in an environment based on the six principles. The purpose of this essay is to critically analysis the principles of nurture and its impact on learning in the classroom.
Naveah has been diagnosed with Fragile X Syndrome. Her parents, who have a language barrier, need resources to understand her condition. Teachers will provide Spanish translations of materials on Fragile X Syndrome to help the parents. Naveah may need therapies and classroom accommodations to address challenges with behavior, communication, and daily living skills that are common in Fragile X Syndrome. Supporting both Naveah and her parents is important.
The document outlines a research and advocacy plan to address bullying. It identifies key stakeholders like Kids Help Phone, Bullying Canada, and the Toronto District School Board. The research plan involves surveys, interviews, and internet research. The group chose to advocate to the TDSB and details how they advocated in support of their anti-bullying cause, including following up. It provides links to anti-bullying videos, websites and a poem. Sources are listed at the end.
This document discusses Jose, a 4-year-old boy with low vision who recently moved to Toronto from Winnipeg. It provides information about Jose's needs and strategies for supporting him in the preschool environment. Key points include:
- Jose will need an inclusive environment with adapted materials to support his visual impairment and allow interaction with other children.
- It is important to make Jose and his family feel welcome and supported by providing resources about local services.
- The physical environment can be modified with adaptations like larger toys, high contrast colors, and soft surfaces to prevent injury to accommodate Jose's low vision needs.
- Teaching strategies like using props, audio books, and individual activities may need to be incorporated to support Jose
France has a comprehensive early childhood education system that is largely publicly funded. Preschool programs called Ecoles Maternelles serve almost all children ages 3 to 6 and are free, integrated into primary schools. These preschools have three levels and do not charge fees. Training for early childhood educators includes obtaining a university degree and teacher-based training through teacher institutes. Availability of childcare is widespread across France but demand often exceeds supply, so parents are advised to get on waiting lists early.
VoiceThread is a collaborative tool that allows users to create multimedia slideshows from anywhere in the world. Users can contribute to slideshows using webcam, text, or microphone. VoiceThread aims to be accessible and useful for all people, regardless of their individual needs. The tool can be used for education or work by collecting photos into slideshows, creating instructional videos, and facilitating collaboration between classmates, families, or coworkers through shared projects.
Butterflies have a thorax, head, and 6 legs, thinner antennae than moths, and use their proboscis to drink nectar and liquids. There are approximately 28,000 butterfly species, 80% of which are found in tropical areas, with the largest being the Queen Alexandra's Birdwing. Butterflies go through a life cycle of egg, larva, pupa and adult stages and have been around since the Cretaceous period approximately 65 million years ago.
Cell Therapy Expansion and Challenges in Autoimmune DiseaseHealth Advances
There is increasing confidence that cell therapies will soon play a role in the treatment of autoimmune disorders, but the extent of this impact remains to be seen. Early readouts on autologous CAR-Ts in lupus are encouraging, but manufacturing and cost limitations are likely to restrict access to highly refractory patients. Allogeneic CAR-Ts have the potential to broaden access to earlier lines of treatment due to their inherent cost benefits, however they will need to demonstrate comparable or improved efficacy to established modalities.
In addition to infrastructure and capacity constraints, CAR-Ts face a very different risk-benefit dynamic in autoimmune compared to oncology, highlighting the need for tolerable therapies with low adverse event risk. CAR-NK and Treg-based therapies are also being developed in certain autoimmune disorders and may demonstrate favorable safety profiles. Several novel non-cell therapies such as bispecific antibodies, nanobodies, and RNAi drugs, may also offer future alternative competitive solutions with variable value propositions.
Widespread adoption of cell therapies will not only require strong efficacy and safety data, but also adapted pricing and access strategies. At oncology-based price points, CAR-Ts are unlikely to achieve broad market access in autoimmune disorders, with eligible patient populations that are potentially orders of magnitude greater than the number of currently addressable cancer patients. Developers have made strides towards reducing cell therapy COGS while improving manufacturing efficiency, but payors will inevitably restrict access until more sustainable pricing is achieved.
Despite these headwinds, industry leaders and investors remain confident that cell therapies are poised to address significant unmet need in patients suffering from autoimmune disorders. However, the extent of this impact on the treatment landscape remains to be seen, as the industry rapidly approaches an inflection point.
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One health condition that is becoming more common day by day is diabetes.
According to research conducted by the National Family Health Survey of India, diabetic cases show a projection which might increase to 10.4% by 2030.
Histololgy of Female Reproductive System.pptxAyeshaZaid1
Dive into an in-depth exploration of the histological structure of female reproductive system with this comprehensive lecture. Presented by Dr. Ayesha Irfan, Assistant Professor of Anatomy, this presentation covers the Gross anatomy and functional histology of the female reproductive organs. Ideal for students, educators, and anyone interested in medical science, this lecture provides clear explanations, detailed diagrams, and valuable insights into female reproductive system. Enhance your knowledge and understanding of this essential aspect of human biology.
Promoting Wellbeing - Applied Social Psychology - Psychology SuperNotesPsychoTech Services
A proprietary approach developed by bringing together the best of learning theories from Psychology, design principles from the world of visualization, and pedagogical methods from over a decade of training experience, that enables you to: Learn better, faster!
Does Over-Masturbation Contribute to Chronic Prostatitis.pptxwalterHu5
In some case, your chronic prostatitis may be related to over-masturbation. Generally, natural medicine Diuretic and Anti-inflammatory Pill can help mee get a cure.
- Video recording of this lecture in English language: https://youtu.be/kqbnxVAZs-0
- Video recording of this lecture in Arabic language: https://youtu.be/SINlygW1Mpc
- Link to download the book free: https://nephrotube.blogspot.com/p/nephrotube-nephrology-books.html
- Link to NephroTube website: www.NephroTube.com
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Local Advanced Lung Cancer: Artificial Intelligence, Synergetics, Complex Sys...Oleg Kshivets
Overall life span (LS) was 1671.7±1721.6 days and cumulative 5YS reached 62.4%, 10 years – 50.4%, 20 years – 44.6%. 94 LCP lived more than 5 years without cancer (LS=2958.6±1723.6 days), 22 – more than 10 years (LS=5571±1841.8 days). 67 LCP died because of LC (LS=471.9±344 days). AT significantly improved 5YS (68% vs. 53.7%) (P=0.028 by log-rank test). Cox modeling displayed that 5YS of LCP significantly depended on: N0-N12, T3-4, blood cell circuit, cell ratio factors (ratio between cancer cells-CC and blood cells subpopulations), LC cell dynamics, recalcification time, heparin tolerance, prothrombin index, protein, AT, procedure type (P=0.000-0.031). Neural networks, genetic algorithm selection and bootstrap simulation revealed relationships between 5YS and N0-12 (rank=1), thrombocytes/CC (rank=2), segmented neutrophils/CC (3), eosinophils/CC (4), erythrocytes/CC (5), healthy cells/CC (6), lymphocytes/CC (7), stick neutrophils/CC (8), leucocytes/CC (9), monocytes/CC (10). Correct prediction of 5YS was 100% by neural networks computing (error=0.000; area under ROC curve=1.0).
Osteoporosis - Definition , Evaluation and Management .pdfJim Jacob Roy
Osteoporosis is an increasing cause of morbidity among the elderly.
In this document , a brief outline of osteoporosis is given , including the risk factors of osteoporosis fractures , the indications for testing bone mineral density and the management of osteoporosis
2. HOW BRITTANY`S LIFE HAS CHANGED
Brittany`s family has moved from the sunny state of Florida to Toronto
since her diagnosis of Bloom Syndrome. She has been assigned to my
preschool room and will begin in a couple days. Since the move
Brittany is feeling sad because she misses her friends back home. Her
brother is very mad at Brittany because he believes that the move is all
of her fault. His behaviour is very difficult for the parents and has
asked for my help.
3. THE NEEDS OF THE CHILD THAT NEED TO BE
CONSIDERED AND ADDRESSED
Adapted learning environment
for physical barriers
Frequent doctor’s appointments to
monitor the health of the child
Specific observation
relating to the
child`s health
Adaptive environment for respiratory
and immune system challenges
4. THE NEEDS OF THE FAMILY THAT NEED TO BE
CONSIDERED AND ADDRESSED
Resources that provide information on the community and aspects it
may offer or have to allow parents to become more familiar with their
new surroundings
Resources to help the son cope with the new move and to help the
parents with guidance strategies that will help with their sons behaviour
issues during this time
5. DEFINING BLOOM SYNDROME
Bloom syndrome is a condition that affects both genders. People
with Bloom Syndrome have an extremely small stature and are
not usually taller than five feet. They also high pitched voice,
long and narrow face, smaller and lower jaw, and distinctive nose
and ears. With sun exposure, red lesions appear on the nose
and cheeks. Many but not all people with Bloom Syndrome can
be affected by a metal or learning disability. Bloom syndrome
also affects people`s ability to fight infection, have weak immune
systems, chronic lung problems, diabetes and frequent
pneumonia and ear infections. People with Bloom Syndrome
have. It is more common for the cancer to present itself when a
person is in the early twenties however there are just as many
cases that show it can start earlier than ten years of age. Men
are often infertile, while women can still have children but
experience menopause at an early stage. Bloom Syndrome is a
condition that is inherited and is prominently seen in people with
a Jewish descent. Bloom Syndrome happens when
chromosomes re-arrange themselves and break down. There is
no cure for Bloom Syndrome.
6. PICTURE AND VIDEO LINK DEFINING BLOOM
SYNDROME
http://youtu.be/1jNbeOR1ryI
7. MEETING THE NEEDS OF CHILDREN WITH SPECIAL
NEEDS WITHIN THE CHILDCARE SETTING
When planning to meet the needs of Brittany joining my
class, I need to ensure that I create an environment that
meet her needs and is inclusive. Providing an inclusive
environment for children and their families allows for the
``same opportunities to learn, enjoy and participate as
others, actively welcome children with special needs,
respond to them and their parents and reduce barriers
that may present themselves``(McCaie, L.
Connectability-inclusion workshop, 2013). Inclusion is
important on so many levels. Research has prove it be
``beneficial to all involved, improves social and adaptive
skills and cognitive and physical development is
increased``(McCaie, L. Connectability-inclusion
workshop, 2013).
8. MODIFICATIONS TO THE PHYSICAL
ENVIRONMENT
With Brittany shortly joining my class I would have
to make some modifications to the environment
and how I will teach her. ``Adaptive learning
environment would include the physical space,
removal of barriers, materials, toys, equipment,
adaptive devices for greater independence and
flexibility in routines, schedules and
activities``(McCaie,L. Adaptive learning
environment, 2013). Modifications to the
environment would be to possibly change the size
of the furniture. Because Brittany has a small
stature, the height of table and chairs may be too
high. Providing proper size furniture that is
suitable for Brittany will resolve the issue. Cutlery
used at meal times should also accommodate the
size that is comfortable fore Brittany to hold.
9. MODIFICATIONS TO THE PHYSICAL
ENVIRONMENT-CONTINUED
The placement of toys may need to be on lower
shelves so that they are easily accessible. When
using the washroom, if the toilet is not easily
reached by Brittany, a step stool can be added
which will allow her easy access and more
independence.
10. MODIFICATIONS TO THE PHYSICAL
ENVIRONMENT-CONTINUED
When going up and down stairs that may be
around the childcare, additional railings
may need to be at a lower height. An air
purifier may need to be installed to ensure
that the air is as clean as possible. This
could help with reducing respiratory and
immune problems. Brittany is more
susceptible to catching illnesses. When a
child is sick in the class, water and play
dough play can be put aside to reduce the
possibility of spreading of the illness.
11. MODIFICATIONS TO THE PHYSICAL
ENVIRONMENT-CONTINUED
When on the outdoor playground, ride
on toys may need to be of a smaller
size. On sunny days, Brittany will need
to play in areas that are not in the sun
due to the sensitivity of her skin. This
consideration will need to be
implemented in the classroom or on the
outdoor playground. This can be done
by providing shaded areas on the
playground and drawing the blinds
inside the classroom. Brittany may be
absent repeatedly because of frequent
doctor’s appointments and illnesses.
When Brittany is absent, ensuring she
gets to catch up and take part in
learning she may have missed is
essential. Bloom Syndrome can affect
a person`s mental or learning ability.
12. CHANGES IN TEACHING STRATEGIES
With Brittany joining the class soon, I can be proactive by scheduling
appointments with specialist. Brittany should be assessed to
determine her cognitive abilities to ensure she gets access to
resources that may be available for her. Having Brittany assessed
will also help when planning curriculum for her. ``The role of the
early childhood educator is to assist in making the earliest possible
identification of developmental differences or at risk
conditions``(McCaie, L. The role of the early childhood
educator,2013). Brittany has already been diagnosed with Blooms
Syndrome; however I need to be aware of any physical conditions
that may change in her health. As we know people with Bloom
Syndrome can also have a metal and learning disabilities so
ensuring the right assessments are provided is essential. When
working with children with special needs, you also work in
``collaboration with resources consultants and specialists, families
and coworkers``(McCaie, L. The role of the early childhood
educator,2013). Getting access to such ``services as consultants
and specialist, a Form 14 is needed``(McCaie, L. The role of the
early childhood educator,2013).
13. CHANGES IN TEACHING STRATEGIES-
CONTINUED
Teaching strategies for Brittany will vary from others
depending on her cognitive abilities. Once assessed,
``creating and implementing individual program plans
and individual educational plans can happen. This
includes providing thoughts, ideas, observations,
strategies and solutions``(McCaie, L. The role of the
early childhood educator,2013). When working with
children with special needs, considerations need to
be made when giving instruction and completing
tasks sometimes needs to be adapted.
``Expectations need to be set that are realistic, set a
child up for success, expect follow through, provide
assistance when needed, use positive language and
allow enough time for the child to process``(McCaie,
Lisa. Connectability-giving instructions, 2013).
``When giving directions be brief, use visuals to help
the child understand like gestures, photos, objects
and printed words``(McCaie, Lisa. Connectability-
giving instructions, 2013).
14. FOCUS ON THE CHILD AS PART OF THE
LARGER GROUP OF CHILDREN
Creating an inclusive environment impacts
the child with special needs and the other
children in the room in a positive way.
``Children with special needs should
attend educational, recreational and
community programs with their
peers``(McCaie, L. Inclusion of children
with special needs, 2013). Providing an
inclusive environment benefits everyone
with ``developmental progress by children
learning from other children, development
of sensitivity and benefits families and the
community``(McCaie, L. Inclusion of
children with special needs, 2013)
15. FOCUS ON THE CHILD AS PART OF THE
LARGER GROUP OF CHILDREN- CONTINUED
Providing an inclusive environment in the class that
Brittany will shortly be joining allows the children in her
class to see that she is just like them and that not one
person in the world looks exactly the same. Reading
prosocial stories about acceptance and inclusion daily
will encourage children to not be bias. ``People with
special needs should be included as full members of
society``(McCaie, L. The history of inclusion, 2013).
Providing an inclusive environment creates friendships
amongst all children. When creating environments that
are inclusive, it allows children to ``understand reasons
for individual differences in other children and allows for
a learning space to encourage active
participation``(McCaie, Lisa. Acceptance, 2013).
16. THE NEEDS OF THE FAMILY AS A WHOLE
When looking at everyone involved in
Brittany`s life, her parents play the biggest
role. ``Parents of children with special
needs should be greeted with a welcoming
environment, provided with workshops that
they can take part in, provided information
that will help and time``(McCaie, L.
Adaptive learning environment, 2013).
17. THE NEEDS OF THE FAMILY AS A WHOLE-
CONTINUED
Educators can keep a daily log of Brittany’s health that can be
shared with her parent’s at the end of the day. This will for her
health to be monitored because with Bloom Syndrome
children frequently get sick. When meeting with Brittany’s
parent’s, a private room should be used. Because of
Brittany’s frequent illnesses, allowances should be made for
regular phone calls from her parents. Brittany`s brother has
been affected by her diagnosis in many ways. His parents
have had to focus more attention on Brittany because they
have recently moved after the revelation of her conditions
health effects.
18. THE NEEDS OF THE FAMILY AS A WHOLE-
CONTINUED
They have had to focus on setting up their lives in a new
place and has impacted him in a negative way.
Brittany`s brother has had behavioural issues which
could be a result in the lack of attention he may not be
getting and having to more to a new place not by choice.
Ensure that he is involved in any ways possible with
have an impact on the family, even if it is just
interactions with his sister. ``Involvement of typical
children can be seen in social and physical
activities``(McCaie,L. Adaptive learning environment,
2013). Also ensuring that there is time set aside just for
Brittany’s brother will make him feel equally important
and validated as well.
19. CONNECTING FAMILIES WITH RESOURCES AND
AGENCIES IN THE LOCAL AREA
Brittany and her family are new to the country and the
busy city of Toronto. Brittany’s family needs more
support than other because they are not familiar with
their surroundings. With Brittany’s medical condition, it
is important that efficiently connects with resources and
agencies. ``A major responsibility of teachers is to refer
children to the appropriate support and services. It is
important that ECE`s know the local community
services``(McCaie, L. The role of the early childhood
educator,2013). Children with special needs should
always have ``appropriate supports such as education
and accessible environments should be provided to
ensure inclusion``(McCaie, L. The history of inclusion,
2013).
20. RESOURCES AND AGENCIES IN THE LOCAL
AREA- EDUCATIONAL
Early Childhood Educator: “observes, participates in creating and implementing
IPP’s, making adaptations in the environment, supports families, links with other
professionals, and much more”
Cost: Provided at children centre. Childcare varies in cost but can be subsidized if
eligible
Contact information: Access through childcare
Special Education Teacher: “Specialty teacher who overseas and may also
implement the education and development of children with special needs”
Cost: Free service, provided at children centre. Childcare varies in cost but can be
subsidized if eligible
Contact information: Access through childcare
Resource Teacher or Consultant: “promote the inclusion of children with special
needs in the childcare community, gather information in relation to children with
special needs, assist families and childcare staff in identifying strengths, needs and
goals for the child with special needs, access and coordinate resources to support
children, families and childcare staff, develop appropriate strategies and service
plans to support inclusion of the child with special needs and interact with related
professionals in the community”
Cost: Free service, provided at children centre. Childcare varies in cost but can be
subsidized if eligible
Contact information: Access through childcare
21. RESOURCES AND AGENCIES IN THE LOCAL
AREA- MEDICAL
Pediatrician: “a pediatrician specializes in child development
and medical care for children”
Family Doctor: “make a diagnosis, can advise parents about
accessing and referral for diagnosis and help the family find
support”
Physiotherapist: “works with children and their families to
develop the child’s maximum level of independence by
addressing physical aspects (movement, muscle strength,
coordination, fitness and respiration)
Public Health Nurse: “provide information on healthy growth
and development of children, immunization and resources,
supports and services in their community”
22. RESOURCES AND AGENCIES IN THE LOCAL
AREA- MEDICAL AND EDUCATIONAL
Name: 211 Toronto
Service: Trained professional social workers provide
non-clinical assessments, information, referral and
advocacy for people looking for services. Services are
available in various languages
Referral Process: Not required
Cost: Free
Location: Box 203, 543 Richmond St. W., Suite 125
Toronto, ON, M5V 1Y6
Contact: 416 392-4605 / Fax 416 392-4404
info@findhelp.ca
www.211toronto.ca
23. RESOURCES AND AGENCIES IN THE LOCAL
AREA- MEDICAL AND EDUCATIONAL
Name: Macaulay Child Development Centre
Service: home and centre-based integrated child care programs,
family resource programs, parent/caregiver drop-ins, homework
clubs, consultation to child care programs, community parents’
program (in-home peer support to high-needs pregnant
women/families with children birth-6 years), speech/language
services, family and early literacy specialists.
Referral Process: Not required
Cost: Free, expect for child care service and subsidy is available
if eligible
Location:400-2010 Eglington Ave. W., Toronto, ON, M6E 2K3
Contact:416 789-7441 / Fax 416 789-4719
info@macaulaycentre.org
www.macaulaycentre.org
24. RESOURCES AND AGENCIES IN THE LOCAL
AREA- MEDICAL AND EDUCATIONAL
Name: Toronto Children’s Services Division
Service: provides families with detailed information on licensed
child care options in Toronto (includes both child
care centres and home care arranged through a licensed private
home agency), assistance in placement and care of children with
special needs and registry of family resource programs and other
parent programs. Administers child care fee subsidy program for
families who require financial assistance with cost of licensed
child care.
Referral Process: Not Required
Cost: Free
Location: Metro Hall, 55 John St., 10th Fl., Toronto, ON, M5V
3C6
Contact: 416 392-KIDS(5437) / Fax 416 392-4576
childcare@toronto.ca
www.toronto.ca/children
25. RESOURCES AND AGENCIES IN THE LOCAL
AREA- MEDICAL AND EDUCATIONAL
Name: Variety Village
Service: Program: to improve the quality of life of all people,
regardless of their abilities. By offering specialized programs and
services, we create a level playing field without barriers,
intimidation or other obstacles. Dedicated to people of all
abilities, A great place to get fit and have fun. special events, day
camps, meeting rooms. A sports, fitness and training centre with
integrated programming for children who are physically,
developmentally and/or medically disabled.
Referral Process: Not Required
Cost: Not Available
Location: 3701 Danforth Ave., Scarborough, ON,M1N 2G2
Contact: 416 699-7167, 416 699-8147 (TTY) / Fax 416 699-5752
www.varietyontario.ca/village
26. RESOURCES AND AGENCIES IN THE LOCAL
AREA- MEDICAL AND EDUCATIONAL
Name: Child Development Institute
Service: Consultation services include individual child and program
consultations, as well as education, training and support to staff and
parents. Consultants are involved in assessment of children’s needs,
active coordination of services, and developing individualized
intervention plans for identified children that will support the child’s
optimal development and functioning within the childcare centre.
Workshops and the sharing of information and resources are also
available to child care staff and parents at the childcare centres, based
on identified needs and interests. For families with children aged 0-12
who are in child care.
Referral Process: The service is requested by the individual child care
centre with the consent of the parent.
Cost: Free, expect for child care service and subsidy is available if
eligible
Location: 197 Euclid Ave. Toronto, Ontario M6J 2J8
Contact: Tel: (416) 603-1827 Fax: (416) 603-6655 www.childdevelop.ca
27. RESOURCES AND AGENCIES IN THE LOCAL
AREA- MEDICAL AND EDUCATIONAL
Name: North York General Hospital
Service: To better serve our community, North York General
Hospital has an after-hours clinic that is run by over 125 family
physicians from our hospital. The clinic represents the largest
family health group in the province. Physicians in the clinic
report back to the patient's family physician, ensuring good
continuity of care.
Cost: Free
Referral Process: Not Required
Location: 2901 Bayview Avenue North York, ON M2K 1E6
Contact:Tel: (416) 491-6338
www.nygh.on.ca
28. RESOURCES AND AGENCIES IN THE LOCAL
AREA- MEDICAL AND EDUCATIONAL
Name: Developmental Services
Service: The Ministry of Community and Social Services provides
services and supports to people of all ages who have a
developmental disability and their families, primarily through a
network of community-based, board operated, non-profit transfer
payment agencies. Services and supports are provided to meet
the individual needs of people with developmental disabilities and
their families to allow them to live, work and participate in a wide
range of activities within the community, thereby improving the
quality of their lives.
Referral Process: Not Required
Cost: Free
Location: Several locations across Toronto
Contact: Tel.: 905-868-8900 Fax: 905-895-4330 Toll Free:
1-877-669-6658
http://www.familycare.utoronto.ca/parenting/snd.html
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