Seminario biomol Maria Camila Ortega .pdf
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PON2 is the group of genes related to dexamethasone resistance in acute lymphoblastic leukemia (ALL). Dexamethasone is a glucocorticoid used in ALL treatment, but if a patient is resistant their prognosis is poorer. The study found that inhibiting PON2 can improve the prognosis of ALL patients by restoring their sensitivity to dexamethasone-induced apoptosis and overcoming dexamethasone resistance.
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Project proposal from venkatesh (bt)
This document presents a study plan to investigate molecular markers and toll-like receptor expression in myelodysplastic syndrome (MDS) patients in Assam, India. The study aims to measure mutation levels of genes like TET2, SAXL1, RUNX1, RAS, and TP53 in MDS patients and determine expression of toll-like receptors TLR1-10 at mRNA and protein levels. The methodology involves collecting blood samples from MDS patients, extracting RNA and protein, and using techniques like qRT-PCR, ELISA, western blotting, and flow cytometry for analysis. The expected significance is that the study may help explore gene expression and mutation patterns in MDS patients in Assam and support approaches for treating
Advances in Diagnosis and Treatment for Nodal and Gastrointestinal Follicular...
Globally, follicular lymphoma (FL) is the most common type of
indolent B cell lymphoma (BCL). Recently, the incidence of FL has
increased in Europe, the USA, and Asia, with a possible increase in
gastrointestinal FL incidence. Limited knowledge of FL molecular
biology and novel therapeutics among gastroenterologists has
resulted in delegating the treatment to hematologists. To address
this limitation
Genetics of childhood solid tumors
Genetic changes play an important role in the development of childhood tumors. There are three main categories of genes affected: proto-oncogenes, tumor suppressor genes, and DNA repair genes. Mutations in tumor suppressor genes like RB1 and TP53 can lead to cancers due to a loss of control of cell proliferation. Activation of proto-oncogenes also contributes to childhood cancers like leukemias and solid tumors. Molecular diagnostic techniques can identify genetic alterations that provide prognostic and therapeutic insights for managing childhood cancers.
Evolving concepts in her2 evaluation in breast cancer
HER 2 Low Breast Cancer- Kalyan Kusum Mukherjee, Dattatreya Mukherjee
Presented in Virtual Breast Cancer Congress 2020
Lezione 2 2008 09
The document discusses various topics related to DNA methylation and its roles in human pathology. It begins by describing the MeCP2 protein and its involvement in Rett syndrome through mutations in the MECP2 gene. It then discusses how alterations in DNA methylation levels and patterns are common in cancer and can lead to genomic instability. Finally, it examines the use of epigenetic therapies like DNA methyltransferase inhibitors and histone deacetylase inhibitors to treat cancer by reversing aberrant DNA methylation and histone modifications.
Lezione 2 2008 09
This document discusses various topics related to DNA methylation and its roles in human pathology. It begins by describing the MeCP2 protein and Rett syndrome, where mutations in the MECP2 gene cause the condition. It then discusses how alterations in DNA methylation levels and patterns are common in cancer and can cause genome instability and gene silencing. Finally, it examines the roles of DNA methyltransferases and histone deacetylases, and how inhibitors of these enzymes show promise as epigenetic cancer therapies.
Lezione 2 2008 09
The document discusses various topics related to DNA methylation and its role in human pathology. It begins by describing the MeCP2 protein and its involvement in Rett syndrome through mutations in the MECP2 gene. It then discusses how alterations in DNA methylation levels and patterns are common in cancer and can lead to genomic instability. Finally, it examines the use of epigenetic therapies like DNA methyltransferase inhibitors and histone deacetylase inhibitors to treat cancer by reversing aberrant DNA methylation and histone modifications.
Lezione 2 2008 09 (1)
The document discusses various topics related to DNA methylation and its role in human pathology. It begins by describing the MeCP2 protein and its involvement in Rett syndrome through mutations in the MECP2 gene. It then discusses how alterations in DNA methylation levels and patterns are common in cancer and can lead to genomic instability. Finally, it examines the use of epigenetic therapies like DNA methyltransferase inhibitors and histone deacetylase inhibitors to treat cancer by reversing aberrant DNA methylation and histone modifications.
Recommended
Project proposal from venkatesh (bt)
This document presents a study plan to investigate molecular markers and toll-like receptor expression in myelodysplastic syndrome (MDS) patients in Assam, India. The study aims to measure mutation levels of genes like TET2, SAXL1, RUNX1, RAS, and TP53 in MDS patients and determine expression of toll-like receptors TLR1-10 at mRNA and protein levels. The methodology involves collecting blood samples from MDS patients, extracting RNA and protein, and using techniques like qRT-PCR, ELISA, western blotting, and flow cytometry for analysis. The expected significance is that the study may help explore gene expression and mutation patterns in MDS patients in Assam and support approaches for treating
Advances in Diagnosis and Treatment for Nodal and Gastrointestinal Follicular...
Globally, follicular lymphoma (FL) is the most common type of
indolent B cell lymphoma (BCL). Recently, the incidence of FL has
increased in Europe, the USA, and Asia, with a possible increase in
gastrointestinal FL incidence. Limited knowledge of FL molecular
biology and novel therapeutics among gastroenterologists has
resulted in delegating the treatment to hematologists. To address
this limitation
Genetics of childhood solid tumors
Genetic changes play an important role in the development of childhood tumors. There are three main categories of genes affected: proto-oncogenes, tumor suppressor genes, and DNA repair genes. Mutations in tumor suppressor genes like RB1 and TP53 can lead to cancers due to a loss of control of cell proliferation. Activation of proto-oncogenes also contributes to childhood cancers like leukemias and solid tumors. Molecular diagnostic techniques can identify genetic alterations that provide prognostic and therapeutic insights for managing childhood cancers.
Evolving concepts in her2 evaluation in breast cancer
HER 2 Low Breast Cancer- Kalyan Kusum Mukherjee, Dattatreya Mukherjee
Presented in Virtual Breast Cancer Congress 2020
Lezione 2 2008 09
The document discusses various topics related to DNA methylation and its roles in human pathology. It begins by describing the MeCP2 protein and its involvement in Rett syndrome through mutations in the MECP2 gene. It then discusses how alterations in DNA methylation levels and patterns are common in cancer and can lead to genomic instability. Finally, it examines the use of epigenetic therapies like DNA methyltransferase inhibitors and histone deacetylase inhibitors to treat cancer by reversing aberrant DNA methylation and histone modifications.
Lezione 2 2008 09
This document discusses various topics related to DNA methylation and its roles in human pathology. It begins by describing the MeCP2 protein and Rett syndrome, where mutations in the MECP2 gene cause the condition. It then discusses how alterations in DNA methylation levels and patterns are common in cancer and can cause genome instability and gene silencing. Finally, it examines the roles of DNA methyltransferases and histone deacetylases, and how inhibitors of these enzymes show promise as epigenetic cancer therapies.
Lezione 2 2008 09
The document discusses various topics related to DNA methylation and its role in human pathology. It begins by describing the MeCP2 protein and its involvement in Rett syndrome through mutations in the MECP2 gene. It then discusses how alterations in DNA methylation levels and patterns are common in cancer and can lead to genomic instability. Finally, it examines the use of epigenetic therapies like DNA methyltransferase inhibitors and histone deacetylase inhibitors to treat cancer by reversing aberrant DNA methylation and histone modifications.
Lezione 2 2008 09 (1)
The document discusses various topics related to DNA methylation and its role in human pathology. It begins by describing the MeCP2 protein and its involvement in Rett syndrome through mutations in the MECP2 gene. It then discusses how alterations in DNA methylation levels and patterns are common in cancer and can lead to genomic instability. Finally, it examines the use of epigenetic therapies like DNA methyltransferase inhibitors and histone deacetylase inhibitors to treat cancer by reversing aberrant DNA methylation and histone modifications.
DamonPhamFINALPoster
This study investigated the synergistic effects of combining the WEE1 inhibitor AZD1775 with HDAC inhibitors to target DNA damage response in acute myeloid leukemia (AML) cells. Drug combination assays showed additive cytotoxicity in two AML cell lines when treated with AZD1775 and the HDAC inhibitor SAHA in a dose-dependent manner. Western blot analysis revealed that SAHA treatment induced downregulation of cyclin D1 expression and increased levels of the DNA damage marker γ-H2AX, indicating that HDAC inhibition induces DNA damage in a time-dependent manner. The results support the hypothesis that HDAC inhibition activates the WEE1-dependent DNA damage checkpoint pathway in AML cells.
Epigenetics in human diseases
This document discusses epigenetics and its role in human disease. It begins with an introduction to epigenetics, explaining that epigenetic processes can alter gene expression without changing DNA sequence. It then discusses some key epigenetic mechanisms like DNA methylation and histone modifications. It provides examples of how epigenetic changes are implicated in several diseases, such as neurological disorders, autoimmune diseases, diabetes, and cancer. The document concludes by noting that epigenetic therapies are being explored for diseases like cancer, and that combining epigenetic drugs with immunotherapy shows promise in treating various cancer types.
DNA damage response.pptx
The DNA damage response (DDR) is a multifaceted system of genes that are responsible for detecting and reacting to various forms of DNA damage. This intricate network encompasses specific mechanisms that facilitate DNA repair, regulate the cell cycle, respond to replication stress, and induce apoptosis.
Impairments in the DDR can lead to genomic instability in cells, which can contribute to the initiation and progression of cancer by promoting the accumulation of mutations. However, these defects also create exploitable vulnerabilities that are relatively specific to cancer cells, and can be targeted for clinical benefit through the use of DDR inhibitors.
Infect. Immun.-2016-Jain-439-51
This study characterized the function of ALL2, a homolog of ALL1, in the fungal pathogen Cryptococcus neoformans. The key findings were:
1) Unlike deletion of ALL1, deletion of ALL2 attenuated virulence in a pulmonary infection model.
2) The all2Δ mutant shed a less viscous exopolysaccharide and was more sensitive to hydrogen peroxide but more resistant to macrophage killing than the wild type.
3) Transcriptome analysis supported distinct functions for ALL1 and ALL2, with ALL2 uniquely involved in maintaining intracellular pH under low-pH conditions.
Apoptosis
Apoptosis, or programmed cell death, is an internally controlled suicide program where cells are removed with minimal disruption of surrounding tissue. It plays important roles in development, tissue homeostasis, and defense against infection and cancer. There are two main apoptotic pathways - the intrinsic mitochondrial pathway and the extrinsic death receptor pathway. Both pathways activate caspases, cysteine proteases that cleave proteins to execute the cell death program through processes like DNA fragmentation and formation of apoptotic bodies. Deregulation of apoptosis contributes to cancer development by allowing damaged or unnecessary cells to survive. Targeting the apoptotic pathway is a strategy for cancer treatment.
A Glimpse at Precision Medicine in AML.
Precision medicine is a rapidly growing field of medicine that proposes individually customized diagnostics and therapeutics based upon molecular and genetic profile of individual patients. The main goal of precision medicine is to minimize harmful side effects and maximize benefits. In particular, hematological malignancies were seen as the most direct candidates of the most promising applications of precision medicine. However, Precision medicine approaches face multiple challenges. Despite these challenges and limitations, continuous effort is carried out to use these molecular findings as disease biomarkers and targets for therapeutic intervention. In the last decade the hemato-oncology witnessed a major revolution in the understanding of the molecular pathogenesis of hematological malignancies. While the therapeutic research for hematologic malignancies is continuously expanding, some medicines have been approved in hematological malignancies patients’ therapeutic algorithm and many are still under investigation.
Sindrome di rett
The document discusses methylation processes and their role in human pathogenesis. It first describes how the MeCP2 protein functions in gene silencing through methyl-DNA binding and transcription repression, but that its role is more complex as a regulator rather than strict silencer of transcription. It also discusses how MeCP2 mutations cause Rett syndrome and interactions with other proteins. The role of DNA methylation in cancer is then covered, including global hypomethylation in cancer and hypermethylation of tumor suppressor genes. Finally, the potential of epigenetic therapies targeting DNA methyltransferases and histone deacetylases for cancer treatment is presented.
Identifying Biomarkers for Diffuse Large B-Cell Lymphoma Subtypes
Diffuse large B-cell lymphoma (DLBCL) is a heterogeneous cancer that can be classified into germinal center B-cell (GCB) and activated B-cell (ABC) subtypes based on gene expression and immunohistochemistry. However, these traditional methods have limitations. Recent studies using next-generation sequencing have revealed genetic variations including mutations and copy number alterations that differ between subtypes and affect key pathways. Certain genetic variations show potential as diagnostic and prognostic biomarkers and could help identify new therapeutic targets. Comprehensive analysis of recurrent genetic lesions could improve understanding of heterogeneity in DLBCL and facilitate clinical application of genetic testing.
Final lysosomal storage diseases2
This document summarizes lysosomal storage diseases (LSDs), which are caused by defects in lysosomal proteins leading to substrate accumulation. LSDs include over 50 disorders categorized by substrate stored. While rare, treatment involves hematopoietic stem cell transplantation, enzyme replacement therapy, substrate reduction therapy, chaperones, and gene therapy. Management requires a multidisciplinary team and monitoring for medical and psychosocial effects. The guideline provides diagnostic and treatment guidance for identifying LSDs through newborn screening.
Jc, Ph-like acute lymphoblastic leukemia (ALL)
This document summarizes a study on kinase-activating lesions in Philadelphia chromosome-like (Ph-like) acute lymphoblastic leukemia (ALL). The study found that 91% of Ph-like ALL cases had genetic alterations activating kinase signaling, with subgroups involving kinases like ABL1, CSF1R, PDGFRB, EPOR, JAK2, CRLF2 and others. Patients with Ph-like ALL had poorer outcomes than those without, and the presence of alterations like IKZF1 deletions conferred even worse prognosis. In vitro experiments showed that fusions involving ABL1, ABL2 and CSF1R were sensitive to tyrosine kinase inhibitors like imatinib and dasatinib.
steroid resistant nephrotic syndrome
This document discusses steroid resistant nephrotic syndrome (SRNS), including that it is a heterogeneous disease with both immune-based and genetic etiologies. Treatment strategies for SRNS vary between centers and can include calcineurin inhibitors to induce remission in immune-based cases. Recent research proposes stratifying SRNS based on disease mechanisms into monogenic, immune-mediated with circulating factors, and immune-mediated without circulating factors. A variety of immunosuppressive and targeted therapies are discussed for treating the different proposed types of SRNS.
LLA 2011 - L. Mazzucchelli - Principles of pathology and microscopic diagnosi...
LLA 2011 - L. Mazzucchelli - Principles of pathology and microscopic diagnosi...European School of Oncology
The document discusses diffuse large B-cell lymphoma (DLBCL), its subtypes and classification. It describes how DLBCL can be categorized based on site of origin, characteristic features, association with viruses, or remain unclassified. Gene expression profiling can further distinguish DLBCL subgroups with different prognosis. The presence of MYC rearrangement or double hit lymphomas involving MYC and BCL2/BCL6 translocations predicts a very aggressive clinical outcome.Invasive candidiadis
Candida is the most common cause of fungal infection worldwide and 4th most common cause of blood stream infections in hospital setting.
Associated with 47 % mortality rate.
17 different species identified till yet.
Most common among them are C. albicans, C. glabrata, C. parapsilosis and C. tropicalis.
Candida usually develops on mucous membranes ( mouth , genitals etc).
Candida in blood stream it is known as candidemia.
When it passes from blood stream to other body parts(eyes, kidney, liver and brain etc) it is called invasive candidiasis.
Cancer Medicine - 2023 - Ma - Novel strategies to reverse chemoresistance in ...
This document reviews novel strategies to reverse chemoresistance in colorectal cancer. It discusses using drug repurposing with nonsteroidal anti-inflammatory drugs, metformin, and other drugs. It also discusses using gene therapy with ribozymes, RNAi, CRISPR/Cas9 and other methods. Protein inhibitors targeting EFGR, S1PR2 and DNA methyltransferase are also reviewed. The use of natural compounds and new drug delivery systems with nanocarriers are discussed. Combination therapy is also mentioned as a potential strategy. Overall, the review evaluates common and novel approaches to overcome resistance and improve colorectal cancer treatment outcomes.
FEOCROMOCITOMA PHYSIOLOGIA ENFERMEDAD ADRENAL
A 50-year-old man presented with headaches and sweating and was found to have a benign pheochromocytoma that was surgically removed. Three years later, he developed worsening back pain and hypertension. Imaging found a large retroperitoneal mass that had metastasized to his spine and pelvis. Biopsy confirmed it was a malignant pheochromocytoma. He received radiotherapy, chemotherapy, and medications that improved his symptoms and reduced tumor size and hormone levels. Genetic testing found a germline mutation in the SDHB gene associated with familial paraganglioma syndrome, which can cause hereditary pheochromocytomas and paragangliomas. Identifying such mutations is important
Hematology 2013-thein-354-61
This document summarizes recent genetic studies on genetic modifiers that influence the severity of beta-hemoglobinopathies like sickle cell disease and beta-thalassemia. It discusses how genetic association studies have identified modifiers like fetal hemoglobin levels and alpha-thalassemia trait that impact disease severity at the molecular level. Genome-wide association studies and next-generation sequencing have also discovered additional genetic variants associated with disease complications. Identifying genetic modifiers provides insights into disease mechanisms and possibilities for new therapeutic targets and predictive diagnostics.
Bif application simon
Carlos López Fernández de Castillejo is applying for a PhD fellowship to further his research on dissecting the leukaemic stem cell niche. His research aims to 1) validate a novel therapy for myeloproliferative neoplasms that preserves the bone marrow microenvironment rather than targeting mutated cells, and 2) investigate how the microenvironment contributes to acute myeloid leukemia development and mutant stem cell support. His previous work demonstrated that damage to mesenchymal stem cells in the bone marrow niche is required for myeloproliferative neoplasm progression in mice and humans. Preserving the niche through drug therapies blocked disease progression in mice. This fellowship could increase understanding of acute myeloid leukemia biology
EngenuitySC's Science Cafe - March with Dr. Patrick Woster
This document discusses epigenetic modulation through inhibition of histone demethylases like LSD1. It summarizes that:
1) Polyamino(bis)guanidines and polyaminobiguanides can inhibit the histone demethylase LSD1 in vitro and in human colon cancer cells.
2) These inhibitors are non-competitive inhibitors of LSD1 and promote increased histone H3 lysine 4 dimethylation.
3) One inhibitor, verlindamycin (compound 2d), re-expresses tumor suppressor genes silenced in cancer cells and reduces tumor growth in mouse models of human colon cancer, especially in combination with 5-azacytidine.
Pharmacogenetics_of_CBZ_Warfarin_Exam_Question_Neurology_PG.pptx
Pharmacogenetics_of_CBZ_Warfarin_Exam_Question_Neurology_PG.pptxSeth GSMC and KEM Municipal Hospital
This ppt has been especially prepared as an answer key to the question asked in DM Neurology MUHS university question this year 2024More Related Content
Similar to Seminario biomol Maria Camila Ortega .pdf
DamonPhamFINALPoster
This study investigated the synergistic effects of combining the WEE1 inhibitor AZD1775 with HDAC inhibitors to target DNA damage response in acute myeloid leukemia (AML) cells. Drug combination assays showed additive cytotoxicity in two AML cell lines when treated with AZD1775 and the HDAC inhibitor SAHA in a dose-dependent manner. Western blot analysis revealed that SAHA treatment induced downregulation of cyclin D1 expression and increased levels of the DNA damage marker γ-H2AX, indicating that HDAC inhibition induces DNA damage in a time-dependent manner. The results support the hypothesis that HDAC inhibition activates the WEE1-dependent DNA damage checkpoint pathway in AML cells.
Epigenetics in human diseases
This document discusses epigenetics and its role in human disease. It begins with an introduction to epigenetics, explaining that epigenetic processes can alter gene expression without changing DNA sequence. It then discusses some key epigenetic mechanisms like DNA methylation and histone modifications. It provides examples of how epigenetic changes are implicated in several diseases, such as neurological disorders, autoimmune diseases, diabetes, and cancer. The document concludes by noting that epigenetic therapies are being explored for diseases like cancer, and that combining epigenetic drugs with immunotherapy shows promise in treating various cancer types.
DNA damage response.pptx
The DNA damage response (DDR) is a multifaceted system of genes that are responsible for detecting and reacting to various forms of DNA damage. This intricate network encompasses specific mechanisms that facilitate DNA repair, regulate the cell cycle, respond to replication stress, and induce apoptosis.
Impairments in the DDR can lead to genomic instability in cells, which can contribute to the initiation and progression of cancer by promoting the accumulation of mutations. However, these defects also create exploitable vulnerabilities that are relatively specific to cancer cells, and can be targeted for clinical benefit through the use of DDR inhibitors.
Infect. Immun.-2016-Jain-439-51
This study characterized the function of ALL2, a homolog of ALL1, in the fungal pathogen Cryptococcus neoformans. The key findings were:
1) Unlike deletion of ALL1, deletion of ALL2 attenuated virulence in a pulmonary infection model.
2) The all2Δ mutant shed a less viscous exopolysaccharide and was more sensitive to hydrogen peroxide but more resistant to macrophage killing than the wild type.
3) Transcriptome analysis supported distinct functions for ALL1 and ALL2, with ALL2 uniquely involved in maintaining intracellular pH under low-pH conditions.
Apoptosis
Apoptosis, or programmed cell death, is an internally controlled suicide program where cells are removed with minimal disruption of surrounding tissue. It plays important roles in development, tissue homeostasis, and defense against infection and cancer. There are two main apoptotic pathways - the intrinsic mitochondrial pathway and the extrinsic death receptor pathway. Both pathways activate caspases, cysteine proteases that cleave proteins to execute the cell death program through processes like DNA fragmentation and formation of apoptotic bodies. Deregulation of apoptosis contributes to cancer development by allowing damaged or unnecessary cells to survive. Targeting the apoptotic pathway is a strategy for cancer treatment.
A Glimpse at Precision Medicine in AML.
Precision medicine is a rapidly growing field of medicine that proposes individually customized diagnostics and therapeutics based upon molecular and genetic profile of individual patients. The main goal of precision medicine is to minimize harmful side effects and maximize benefits. In particular, hematological malignancies were seen as the most direct candidates of the most promising applications of precision medicine. However, Precision medicine approaches face multiple challenges. Despite these challenges and limitations, continuous effort is carried out to use these molecular findings as disease biomarkers and targets for therapeutic intervention. In the last decade the hemato-oncology witnessed a major revolution in the understanding of the molecular pathogenesis of hematological malignancies. While the therapeutic research for hematologic malignancies is continuously expanding, some medicines have been approved in hematological malignancies patients’ therapeutic algorithm and many are still under investigation.
Sindrome di rett
The document discusses methylation processes and their role in human pathogenesis. It first describes how the MeCP2 protein functions in gene silencing through methyl-DNA binding and transcription repression, but that its role is more complex as a regulator rather than strict silencer of transcription. It also discusses how MeCP2 mutations cause Rett syndrome and interactions with other proteins. The role of DNA methylation in cancer is then covered, including global hypomethylation in cancer and hypermethylation of tumor suppressor genes. Finally, the potential of epigenetic therapies targeting DNA methyltransferases and histone deacetylases for cancer treatment is presented.
Identifying Biomarkers for Diffuse Large B-Cell Lymphoma Subtypes
Diffuse large B-cell lymphoma (DLBCL) is a heterogeneous cancer that can be classified into germinal center B-cell (GCB) and activated B-cell (ABC) subtypes based on gene expression and immunohistochemistry. However, these traditional methods have limitations. Recent studies using next-generation sequencing have revealed genetic variations including mutations and copy number alterations that differ between subtypes and affect key pathways. Certain genetic variations show potential as diagnostic and prognostic biomarkers and could help identify new therapeutic targets. Comprehensive analysis of recurrent genetic lesions could improve understanding of heterogeneity in DLBCL and facilitate clinical application of genetic testing.
Final lysosomal storage diseases2
This document summarizes lysosomal storage diseases (LSDs), which are caused by defects in lysosomal proteins leading to substrate accumulation. LSDs include over 50 disorders categorized by substrate stored. While rare, treatment involves hematopoietic stem cell transplantation, enzyme replacement therapy, substrate reduction therapy, chaperones, and gene therapy. Management requires a multidisciplinary team and monitoring for medical and psychosocial effects. The guideline provides diagnostic and treatment guidance for identifying LSDs through newborn screening.
Jc, Ph-like acute lymphoblastic leukemia (ALL)
This document summarizes a study on kinase-activating lesions in Philadelphia chromosome-like (Ph-like) acute lymphoblastic leukemia (ALL). The study found that 91% of Ph-like ALL cases had genetic alterations activating kinase signaling, with subgroups involving kinases like ABL1, CSF1R, PDGFRB, EPOR, JAK2, CRLF2 and others. Patients with Ph-like ALL had poorer outcomes than those without, and the presence of alterations like IKZF1 deletions conferred even worse prognosis. In vitro experiments showed that fusions involving ABL1, ABL2 and CSF1R were sensitive to tyrosine kinase inhibitors like imatinib and dasatinib.
steroid resistant nephrotic syndrome
This document discusses steroid resistant nephrotic syndrome (SRNS), including that it is a heterogeneous disease with both immune-based and genetic etiologies. Treatment strategies for SRNS vary between centers and can include calcineurin inhibitors to induce remission in immune-based cases. Recent research proposes stratifying SRNS based on disease mechanisms into monogenic, immune-mediated with circulating factors, and immune-mediated without circulating factors. A variety of immunosuppressive and targeted therapies are discussed for treating the different proposed types of SRNS.
LLA 2011 - L. Mazzucchelli - Principles of pathology and microscopic diagnosi...
LLA 2011 - L. Mazzucchelli - Principles of pathology and microscopic diagnosi...European School of Oncology
The document discusses diffuse large B-cell lymphoma (DLBCL), its subtypes and classification. It describes how DLBCL can be categorized based on site of origin, characteristic features, association with viruses, or remain unclassified. Gene expression profiling can further distinguish DLBCL subgroups with different prognosis. The presence of MYC rearrangement or double hit lymphomas involving MYC and BCL2/BCL6 translocations predicts a very aggressive clinical outcome.Invasive candidiadis
Candida is the most common cause of fungal infection worldwide and 4th most common cause of blood stream infections in hospital setting.
Associated with 47 % mortality rate.
17 different species identified till yet.
Most common among them are C. albicans, C. glabrata, C. parapsilosis and C. tropicalis.
Candida usually develops on mucous membranes ( mouth , genitals etc).
Candida in blood stream it is known as candidemia.
When it passes from blood stream to other body parts(eyes, kidney, liver and brain etc) it is called invasive candidiasis.
Cancer Medicine - 2023 - Ma - Novel strategies to reverse chemoresistance in ...
This document reviews novel strategies to reverse chemoresistance in colorectal cancer. It discusses using drug repurposing with nonsteroidal anti-inflammatory drugs, metformin, and other drugs. It also discusses using gene therapy with ribozymes, RNAi, CRISPR/Cas9 and other methods. Protein inhibitors targeting EFGR, S1PR2 and DNA methyltransferase are also reviewed. The use of natural compounds and new drug delivery systems with nanocarriers are discussed. Combination therapy is also mentioned as a potential strategy. Overall, the review evaluates common and novel approaches to overcome resistance and improve colorectal cancer treatment outcomes.
FEOCROMOCITOMA PHYSIOLOGIA ENFERMEDAD ADRENAL
A 50-year-old man presented with headaches and sweating and was found to have a benign pheochromocytoma that was surgically removed. Three years later, he developed worsening back pain and hypertension. Imaging found a large retroperitoneal mass that had metastasized to his spine and pelvis. Biopsy confirmed it was a malignant pheochromocytoma. He received radiotherapy, chemotherapy, and medications that improved his symptoms and reduced tumor size and hormone levels. Genetic testing found a germline mutation in the SDHB gene associated with familial paraganglioma syndrome, which can cause hereditary pheochromocytomas and paragangliomas. Identifying such mutations is important
Hematology 2013-thein-354-61
This document summarizes recent genetic studies on genetic modifiers that influence the severity of beta-hemoglobinopathies like sickle cell disease and beta-thalassemia. It discusses how genetic association studies have identified modifiers like fetal hemoglobin levels and alpha-thalassemia trait that impact disease severity at the molecular level. Genome-wide association studies and next-generation sequencing have also discovered additional genetic variants associated with disease complications. Identifying genetic modifiers provides insights into disease mechanisms and possibilities for new therapeutic targets and predictive diagnostics.
Bif application simon
Carlos López Fernández de Castillejo is applying for a PhD fellowship to further his research on dissecting the leukaemic stem cell niche. His research aims to 1) validate a novel therapy for myeloproliferative neoplasms that preserves the bone marrow microenvironment rather than targeting mutated cells, and 2) investigate how the microenvironment contributes to acute myeloid leukemia development and mutant stem cell support. His previous work demonstrated that damage to mesenchymal stem cells in the bone marrow niche is required for myeloproliferative neoplasm progression in mice and humans. Preserving the niche through drug therapies blocked disease progression in mice. This fellowship could increase understanding of acute myeloid leukemia biology
EngenuitySC's Science Cafe - March with Dr. Patrick Woster
This document discusses epigenetic modulation through inhibition of histone demethylases like LSD1. It summarizes that:
1) Polyamino(bis)guanidines and polyaminobiguanides can inhibit the histone demethylase LSD1 in vitro and in human colon cancer cells.
2) These inhibitors are non-competitive inhibitors of LSD1 and promote increased histone H3 lysine 4 dimethylation.
3) One inhibitor, verlindamycin (compound 2d), re-expresses tumor suppressor genes silenced in cancer cells and reduces tumor growth in mouse models of human colon cancer, especially in combination with 5-azacytidine.
Pharmacogenetics_of_CBZ_Warfarin_Exam_Question_Neurology_PG.pptx
Pharmacogenetics_of_CBZ_Warfarin_Exam_Question_Neurology_PG.pptxSeth GSMC and KEM Municipal Hospital
This ppt has been especially prepared as an answer key to the question asked in DM Neurology MUHS university question this year 2024Similar to Seminario biomol Maria Camila Ortega .pdf (20)
Identifying Biomarkers for Diffuse Large B-Cell Lymphoma Subtypes
Identifying Biomarkers for Diffuse Large B-Cell Lymphoma Subtypes
LLA 2011 - L. Mazzucchelli - Principles of pathology and microscopic diagnosi...
LLA 2011 - L. Mazzucchelli - Principles of pathology and microscopic diagnosi...
Cancer Medicine - 2023 - Ma - Novel strategies to reverse chemoresistance in ...
Cancer Medicine - 2023 - Ma - Novel strategies to reverse chemoresistance in ...
EngenuitySC's Science Cafe - March with Dr. Patrick Woster
EngenuitySC's Science Cafe - March with Dr. Patrick Woster
Pharmacogenetics_of_CBZ_Warfarin_Exam_Question_Neurology_PG.pptx
Pharmacogenetics_of_CBZ_Warfarin_Exam_Question_Neurology_PG.pptx
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The Electrocardiogram - Physiologic Principles
These lecture slides, by Dr Sidra Arshad, offer a quick overview of the physiological basis of a normal electrocardiogram.
Learning objectives:
1. Define an electrocardiogram (ECG) and electrocardiography
2. Describe how dipoles generated by the heart produce the waveforms of the ECG
3. Describe the components of a normal electrocardiogram of a typical bipolar lead (limb II)
4. Differentiate between intervals and segments
5. Enlist some common indications for obtaining an ECG
6. Describe the flow of current around the heart during the cardiac cycle
7. Discuss the placement and polarity of the leads of electrocardiograph
8. Describe the normal electrocardiograms recorded from the limb leads and explain the physiological basis of the different records that are obtained
9. Define mean electrical vector (axis) of the heart and give the normal range
10. Define the mean QRS vector
11. Describe the axes of leads (hexagonal reference system)
12. Comprehend the vectorial analysis of the normal ECG
13. Determine the mean electrical axis of the ventricular QRS and appreciate the mean axis deviation
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Study Resources:
1. Chapter 11, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 9, Human Physiology - From Cells to Systems, Lauralee Sherwood, 9th edition
3. Chapter 29, Ganong’s Review of Medical Physiology, 26th edition
4. Electrocardiogram, StatPearls - https://www.ncbi.nlm.nih.gov/books/NBK549803/
5. ECG in Medical Practice by ABM Abdullah, 4th edition
6. Chapter 3, Cardiology Explained, https://www.ncbi.nlm.nih.gov/books/NBK2214/
7. ECG Basics, http://www.nataliescasebook.com/tag/e-c-g-basics
Cell Therapy Expansion and Challenges in Autoimmune Disease
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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Uma “experiência pós-natal positiva” é um resultado importante para todas as mulheres que dão à luz e para os seus recém-nascidos, estabelecendo as bases para a melhoria da saúde e do bem-estar a curto e longo prazo. Uma experiência pós-natal positiva é definida como aquela em que as mulheres, pessoas que gestam, os recém-nascidos, os casais, os pais, os cuidadores e as famílias recebem informação consistente, garantia e apoio de profissionais de saúde motivados; e onde um sistema de saúde flexível e com recursos reconheça as necessidades das mulheres e dos bebês e respeite o seu contexto cultural.
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É fornecido um conjunto abrangente de recomendações para cuidados durante o período puerperal, com ênfase nos cuidados essenciais que todas as mulheres e recém-nascidos devem receber, e com a devida atenção à qualidade dos cuidados; isto é, a entrega e a experiência do cuidado recebido. Estas diretrizes atualizam e ampliam as recomendações da OMS de 2014 sobre cuidados pós-natais da mãe e do recém-nascido e complementam as atuais diretrizes da OMS sobre a gestão de complicações pós-natais.
O estabelecimento da amamentação e o manejo das principais intercorrências é contemplada.
Recomendamos muito.
Vamos discutir essas recomendações no nosso curso de pós-graduação em Aleitamento no Instituto Ciclos.
Esta publicação só está disponível em inglês até o momento.
Prof. Marcus Renato de Carvalho
www.agostodourado.com
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- 1. MARIA CAMILA ORTEGA GONZÁLEZ 3RD SEMESTER MOLECULAR BIOLOGY
- 2. Acute lymphoblastic leukemia (ALL), including B-cell lymphoblastic leukemia (B-ALL) and T-cell lymphoblastic leukemia (T-ALL), is a heterogeneous blood and bone marrow disease characterized by malignant clones of primitive and immature lymphocytes that is frequently found in pediactric fields. ACUTE LIMPHOBLASTIC LEUKEMIA
- 3. Dexamethasone is a glucocorticoid often used alongside chemotherapy for ALL treatment. The dysregulated paraoxonase 2 (PON2) is a group of genes associated with cell invasion, metastasis, drug resistance (glucocorticoids), tumor therapy, and leads to a very poor prognosis regarding ALL. Silencing PON2 decreased the sensitivity of DEX-resistant ALL cells, improving its therapeutic effects. DEXAMETHASONE AND PON2
- 4. The high frequency of chemotherapy resistance is ultimately responsible for clinical relapse in acute lymphoblastic leukemia (ALL). Nevertheless, the molecular mechanism relevant to glucocorticoid (GC) resistance remains ambiguous. OBJECTIVE
- 5. METHODS SHRNA TRANSFECTION Transfection is used to silence a specific gene, in this case it was used to transfect the short hairpin RNA ofPON2 looking to silence this gene expression in REH and SUP-15R cells, creating a knockdown APOPTOSIS ASSAY Apoptosis assay was used to measure the apoptosis rate ofDEX resistant ALL cells after silencing PON2.
- 6. qRT-PCR WESTERN BLOTTING PCR is a test used to make millions of copies of a specific DNA and amplify them to facilitate the study. In this case it was used to find the mRNA levels of PON2 in different types of ALL (dex resistan, dex sensitive), to evaluate transfection efficiency and the expression of apoptosis proteins. Electrophoresis is used to separate the proteins so they can be specifically identified using an antibody. In this case, western blotting was performed for PON2, Bcl-2, Bax and GAPDH (used as an internal reference).
- 7. RESULTS PON2 is elevated in DEX-resistant ALL cells Silencing PON2 raises the DEX sensitivity of ALL cells PON2 silencing restores the sensitivity of ALL cell toward DEX-induced apoptosis
- 8. RESULTS PON2 knockdown inhibits tumor growth by sensitizing B-ALL cells to DEX in vivo
- 9. DISCUSSION AUTHOR STATEMENT STATUS Bachetti T, Ferretti G, Sahekbar A Agree Cellular resistance to GC has become a major obstacle in reaching successful treatment and prognosis for B-ALL Upregulation of PON2 has been observed in cancer, and it has been proposed that PON2 is implicated in stress resistance and tumor survival Poulard C, Baulu E, Lee BH Agree PON2 has been found to be highly upregulated in gene expression profiling studies addressing pediatric ALL Ross ME, Zhou X, Song G Agree
- 10. Understanding the reason treatments don´t work (incluiding genes being overexpressed/underexpressed) by conducting a series of experiments, will lead us to a more accurate diagnosis and treatment focused not only on the disease but the specifical condition. CONCLUSIONS The inhibition of PON2 can definitely improve the prognosis of patients struggling with ALL, this could only be known by going from the root of the disease to the bigger symptoms.
- 11. PON2 blockade overcomes dexamethasone resistance in acute lymphoblastic leukemia Dexamethasone PON2 ALL Dexamethasone is a glucocorticoid used in ALL treatment, if a patient is resistant to dexamethasone their prognosis won’t be as good PON2 is the group of genes related to dexamethasone resistance Acute lymphoblastic leukemia is a type ofcancer that affects the blood and bone marrow, causing the expression of immature lymphocytes Gets treated with Is very common in child Resistance When inhibited improves prognosis It works by inducing apoptosis By restoring the sensitivity to DEX