Cat eye syndrome
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is a rare condition caused by the short arm (p) and a small section of the long arm (q) of human chromosome 22 being present three (trisomic) or four times (tetrasomic) instead of the usual two times
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Cat eye syndrome
Cat Eye Syndrome is a rare chromosomal disorder caused by tripling or quadrupling of parts of chromosome 22. It can affect individuals differently depending on severity. Signs may include coloboma of the iris, widely spaced eyes, ear growths, kidney and heart defects. While some have no outward symptoms, it can be suspected based on appearance and confirmed through genetic testing. There is no cure, but treatment focuses on managing affected body systems and individuals can live normal lives with treatment.
Albinism
Albinism is a hereditary condition caused by a lack of melanin pigment in the skin, hair, and eyes. It results from a recessive gene and causes little to no pigmentation, making skin and hair very light in color and eyes often red or blue. Symptoms include light sensitivity, vision problems, and nystagmus. There are different types of albinism that vary in severity based on the amount of residual melanin present. Proper sun protection and sunglasses are important to manage health issues associated with albinism.
Edward syndrome
This document provides information about Edwards syndrome, also known as Trisomy 18. It is a rare chromosomal disorder caused by the presence of an extra copy of chromosome 18. The key symptoms include intellectual disability, heart defects, and abnormalities of the hands and feet. Diagnosis is often made through blood tests to analyze chromosomes or through ultrasound screening. Treatment focuses on managing symptoms, as there is currently no cure. Life expectancy is poor, with over 90% of children passing away within the first year. The document outlines the different types of Edwards syndrome and provides some background on its discovery and causes.
DOWNS SYNDROME (PPT)
Down syndrome is a genetic disorder caused by the presence of an extra chromosome 21. It causes lifelong intellectual disability and developmental delays. There are three main types of Down syndrome - Trisomy 21, Mosaic Down syndrome, and Translocation Down syndrome. Trisomy 21 accounts for 95% of cases and is caused by abnormal cell division during conception. While Down syndrome cannot be prevented or cured, early intervention programs can help children with Down syndrome develop important skills and abilities. Individuals with Down syndrome also often face increased health risks such as heart defects and dementia. However, with medical advances, the average life expectancy for people with Down syndrome is now over 50 years.
Williams Syndrome
Williams Syndrome is a rare genetic condition present at birth that affects physical features and development. It occurs in about 1 in 20,000 births due to a random genetic mutation. Common characteristics include heart defects, learning disabilities, an overly friendly demeanor, and narrow blood vessels. There is no cure for Williams Syndrome, but symptoms can be managed through careful medical care and avoiding excess calcium and vitamin D. The condition varies in severity and some cases, like that of Cody described, require multiple heart surgeries while allowing the person to live with milder ongoing effects of the syndrome.
Patau syndrome
Patau syndrome, also known as trisomy 13, is a rare genetic disorder caused by the presence of an extra chromosome 13. It affects about 1 in 12,000 live births and causes severe intellectual and physical disabilities. Common signs include microcephaly, eye abnormalities, cleft palate, extra fingers or toes, and heart defects. While there is no cure, surgery can address some physical defects, though over 80% of infants with Patau syndrome do not survive past their first year.
Natalie's Alice in Wonderland Syndrome
Alice in Wonderland Syndrome (AiWS) is a neurological condition that causes distorted visual perceptions such as objects appearing unusually large or small. It is believed to have influenced the plot of Alice in Wonderland, as the author Lewis Carroll experienced AiWS episodes. The movie depicts examples of AiWS perceptions, like Alice changing size after eating or drinking items. However, there is no known cure or treatment for AiWS as episodes are typically brief and research into the condition remains limited due to its various potential causes.
Albinism
Albinism Presentation contents:
1- Introduction
2- Epidemiology
3- Biochemical bases
4- Management and Treatment
Recommended
Cat eye syndrome
Cat Eye Syndrome is a rare chromosomal disorder caused by tripling or quadrupling of parts of chromosome 22. It can affect individuals differently depending on severity. Signs may include coloboma of the iris, widely spaced eyes, ear growths, kidney and heart defects. While some have no outward symptoms, it can be suspected based on appearance and confirmed through genetic testing. There is no cure, but treatment focuses on managing affected body systems and individuals can live normal lives with treatment.
Albinism
Albinism is a hereditary condition caused by a lack of melanin pigment in the skin, hair, and eyes. It results from a recessive gene and causes little to no pigmentation, making skin and hair very light in color and eyes often red or blue. Symptoms include light sensitivity, vision problems, and nystagmus. There are different types of albinism that vary in severity based on the amount of residual melanin present. Proper sun protection and sunglasses are important to manage health issues associated with albinism.
Edward syndrome
This document provides information about Edwards syndrome, also known as Trisomy 18. It is a rare chromosomal disorder caused by the presence of an extra copy of chromosome 18. The key symptoms include intellectual disability, heart defects, and abnormalities of the hands and feet. Diagnosis is often made through blood tests to analyze chromosomes or through ultrasound screening. Treatment focuses on managing symptoms, as there is currently no cure. Life expectancy is poor, with over 90% of children passing away within the first year. The document outlines the different types of Edwards syndrome and provides some background on its discovery and causes.
DOWNS SYNDROME (PPT)
Down syndrome is a genetic disorder caused by the presence of an extra chromosome 21. It causes lifelong intellectual disability and developmental delays. There are three main types of Down syndrome - Trisomy 21, Mosaic Down syndrome, and Translocation Down syndrome. Trisomy 21 accounts for 95% of cases and is caused by abnormal cell division during conception. While Down syndrome cannot be prevented or cured, early intervention programs can help children with Down syndrome develop important skills and abilities. Individuals with Down syndrome also often face increased health risks such as heart defects and dementia. However, with medical advances, the average life expectancy for people with Down syndrome is now over 50 years.
Williams Syndrome
Williams Syndrome is a rare genetic condition present at birth that affects physical features and development. It occurs in about 1 in 20,000 births due to a random genetic mutation. Common characteristics include heart defects, learning disabilities, an overly friendly demeanor, and narrow blood vessels. There is no cure for Williams Syndrome, but symptoms can be managed through careful medical care and avoiding excess calcium and vitamin D. The condition varies in severity and some cases, like that of Cody described, require multiple heart surgeries while allowing the person to live with milder ongoing effects of the syndrome.
Patau syndrome
Patau syndrome, also known as trisomy 13, is a rare genetic disorder caused by the presence of an extra chromosome 13. It affects about 1 in 12,000 live births and causes severe intellectual and physical disabilities. Common signs include microcephaly, eye abnormalities, cleft palate, extra fingers or toes, and heart defects. While there is no cure, surgery can address some physical defects, though over 80% of infants with Patau syndrome do not survive past their first year.
Natalie's Alice in Wonderland Syndrome
Alice in Wonderland Syndrome (AiWS) is a neurological condition that causes distorted visual perceptions such as objects appearing unusually large or small. It is believed to have influenced the plot of Alice in Wonderland, as the author Lewis Carroll experienced AiWS episodes. The movie depicts examples of AiWS perceptions, like Alice changing size after eating or drinking items. However, there is no known cure or treatment for AiWS as episodes are typically brief and research into the condition remains limited due to its various potential causes.
Albinism
Albinism Presentation contents:
1- Introduction
2- Epidemiology
3- Biochemical bases
4- Management and Treatment
4 Unit - I Chromosomal aberrations, Patterns of Inheritance.pptx
This document provides information on chromosomal aberrations and patterns of inheritance. It discusses that chromosomal aberrations are changes in chromosome structure or number, and can be numerical (changes in total number) or structural (changes in chromosome shape). It describes several types of numerical aberrations like trisomy, monosomy, and polyploidy. It also discusses structural aberrations including translocations, inversions, deletions, and more. The document then covers patterns of inheritance, explaining Mendel's laws of segregation, independent assortment, and dominance in transmitting traits from parents to offspring.
Down syndrome
Down syndrome is a genetic disorder caused by the presence of an extra chromosome 21. It can be caused by trisomy 21, translocation, or mosaicism. Common symptoms include distinctive facial features, poor muscle tone, cognitive delays, and heart defects. While there is no cure, early intervention including speech, physical, and occupational therapy can help children with Down syndrome reach their full potential. Lifespan and quality of life have improved significantly in recent decades for those living with Down syndrome.
Lecture rickets
Rickets is a childhood bone disease caused by vitamin D deficiency and a lack of calcium and phosphate. It results in soft, weak bones that can lead to skeletal deformities. Symptoms include bowed legs, knock-knees, frontal bossing of the skull, and chest deformities like pigeon chest. Laboratory findings often include low calcium, phosphorus, and vitamin D levels as well as elevated alkaline phosphatase and parathyroid hormone levels. Radiographs show widened growth plates and fraying and cupping of the bone metaphysis. The condition is treated by supplementing with vitamin D and calcium.
Achondroplasia
Achondroplasia is a genetic condition that results in abnormally short limbs and an enlarged head. It is caused by mutations in the FGFR3 gene. Symptoms include bowed legs, prominent forehead, and abnormal finger spacing. While there is no cure, treatment focuses on supportive care and monitoring for potential spinal issues. The condition can be diagnosed before or after birth based on physical features and imaging tests.
Klinefelter Syndrome
Klinefelter syndrome is a genetic condition affecting males, and it often isn't diagnosed until adulthood. Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone.
Klinefelter syndrome (KS) is a condition that occurs in males when they have an extra X chromosome. Some males with KS have no obvious signs or symptoms while others may have varying degrees of cognitive, social, behavioral, and learning difficulties. Adults with Klinefelter syndrome may also have primary hypogonadism (decreased testosterone
Klinefelter syndrome is a genetic condition affecting males, and it often isn't diagnosed until adulthood. Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone.
Albinism
Albinism is a genetic condition where people are born without the usual pigment (color) in their bodies. Their bodies aren't able to make a normal amount of melanin, the chemical that is responsible for eye, skin, and hair color. So most people with albinism have very pale skin, hair, and eyes.
Albinism
Albinism is a genetic disorder that causes partial or complete lack of melanin pigment in the skin, hair and eyes. Melanin is responsible for skin, hair and eye color and protects against UV radiation. There are different types of albinism depending on whether the lack of melanin affects just the eyes or both eyes and skin. The most common types are oculocutaneous albinism, which affects eyes and skin, and ocular albinism, which only affects the eyes. Albinism is usually inherited in an autosomal recessive pattern and can cause vision problems, light sensitivity, and higher skin cancer risk. While there is no cure, treatments focus on vision rehabilitation and protection from UV exposure.
Albinism powerpoint[1]
Hermansky-Pudlak syndrome is a rare genetic disorder characterized by oculocutaneous albinism which causes abnormal pigmentation of the skin, hair and eyes. It is caused by mutations in genes responsible for producing protein complexes that construct lysosome-related organelles important for pigment production. The condition is inherited in an autosomal recessive pattern and causes fair skin/hair color, visual impairment, and increased risk of skin damage from sun exposure. Diagnosis involves examining physical features and genetic testing. While there is no cure, treatment focuses on protecting the skin and eyes from sun exposure.
EDWARD SYNDROME
Edwards syndrome, also known as Trisomy 18, is a genetic disorder caused by the presence of an extra 18th chromosome. It results in physical abnormalities and intellectual disabilities. Individuals with Edwards syndrome often have heart defects, respiratory issues, and feeding difficulties. Prognosis is generally poor, with 50% surviving the first week and only 5-10% living beyond one year. Treatment focuses on management of symptoms and organ dysfunction. The condition is not inherited but rather caused by a random chromosomal error and cannot be passed to future generations.
ETIOLOGY, PATHOLOGY AND PATHOGENESIS OF CORNEAL ULCER
Corneal ulcer is a discontinuation of the normal corneal epithelial surface associated with necrosis of surrounding corneal tissue, characterized pathologically by edema and cellular infiltration. It can be classified based on location, purulence, association with hypopyon, depth, and slough formation. Common bacterial causes include Staphylococcus aureus and Pseudomonas aeruginosa. Fungal keratitis is associated with filamentous fungi like Aspergillus. Herpes simplex virus causes infectious epithelial keratitis manifesting as dendritic or geographic ulcers. Mooren's ulcer is a severe, peripheral ulcerative keratitis of unknown etiology.
Mental retardation
Mental retardation is characterized by deficits in cognitive abilities and adaptive functioning that manifest during the developmental period. It is classified based on IQ scores into mild, moderate, severe and profound categories. The causes include genetic conditions like Down syndrome, fragile X syndrome, and inborn errors of metabolism. It can also be caused by acquired factors like maternal infections, childhood illnesses, trauma, and toxins. Diagnosis involves assessing cognitive abilities, adaptive skills, and ruling out other conditions. Prognosis depends on etiology and associated problems. Treatment focuses on education, therapies, social support, and prevention of secondary issues.
Albinism
Albinism is a genetic condition that causes little or no pigmentation in the skin, hair, and eyes. It results from a faulty gene that prevents the body from producing typical amounts of melanin. People with albinism often experience vision problems, sensitivity to light, and lack of color in their features. While albinism has been observed throughout history, it was not formally recognized as a genetic condition until 1908. Today, genetic testing can help diagnose different types of albinism, while treatments focus on protecting the skin and eyes from sunlight and correcting vision issues.
Rickets
Rickets is a childhood bone disease caused by vitamin D deficiency and lack of calcium or phosphorus. It results in soft, weak bones that can lead to skeletal deformities. The document outlines the pathogenesis of rickets, describing how deficiencies disrupt normal bone mineralization. Clinical signs include bone pain, bowed legs, and chest deformities. Diagnosis involves blood tests and x-rays of bones showing widened growth plates. Treatment is vitamin D supplementation with calcium and phosphorus to correct deficiencies and allow healing. Prevention involves adequate sunlight exposure, vitamin D supplementation in infants, and dietary calcium intake.
Ocular Trauma
This document summarizes ocular trauma including extraocular foreign bodies, blunt trauma, penetrating trauma, and chemical injuries. It describes signs, symptoms, complications, investigations, and treatments for various types of eye injuries including hyphema, blowout fractures, iris tears, retinal detachment, and intraocular foreign bodies. Surgical management aims to repair wounds, remove foreign bodies or infected tissue, and prevent infections like endophthalmitis or sympathetic ophthalmia which can spread between eyes. Prognosis depends on severity and timing of treatment for the initial trauma.
Albinism
Albinism is a genetic disorder characterized by little or no production of melanin pigment, resulting in pale skin, hair and eyes. It is caused by a recessive allele that prevents the production of tyrosinase, an enzyme needed to produce melanin from the amino acid tyrosine. There are two main types: oculocutaneous albinism affecting the eyes, skin and hair, and ocular albinism only affecting the eyes. Treatments include protective clothing, sunglasses and sunscreen to prevent sun damage.
MYOPIA
This document discusses myopia, including its optics, classification, treatment, and prognosis. It defines myopia as a refractive error where parallel light rays focus in front of the retina. Myopia is classified as axial, curvatural, index, or acquired. Treatment options include optical correction with concave lenses, surgery, general measures like visual hygiene, and low vision aids for high myopia. Pathological myopia is a form characterized by a rapidly progressive refractive error and increased risks of retinal detachment and other complications.
Turner syndrome presentation last
Turner syndrome is caused by complete or partial monosomy of the X chromosome in females. It is characterized by short stature, infertility, and other physical traits. The document discusses the history and genetics of Turner syndrome, including that the most common karyotype is 45,X and variants involve an isochromosome or ring chromosome. Phenotypic features can range from mild to severe and include lymphedema, heart and kidney problems, learning disabilities, and infertility. Prenatal diagnoses are now possible by ultrasound abnormalities or amniocentesis. Treatment focuses on growth hormone, estrogen therapy, and managing associated health issues.
Achondroplasia
Achondroplasia is a genetic disorder characterized by disproportionate short stature and limb abnormalities. It results from a mutation on chromosome 4 that causes a defect in bone growth by disrupting endochondral ossification. Individuals with achondroplasia have short stature, an enlarged head, midface hypoplasia, spinal abnormalities, and shortened limbs disproportionately affecting the arms and thighs. Complications can include neurological problems, respiratory issues, and spinal stenosis. While there is no cure, treatment focuses on supportive care, surgery to address orthopedic issues, and in some cases growth hormone therapy.
Patau Syndrome
Patau Syndrome, also known as Trisomy 13, is a genetic disorder caused by the presence of an extra copy of chromosome 13 or the improper placement of chromosome 13. It results in severe physical and mental abnormalities such as heart defects, unusual facial features, small head size, missing or small eyes, extra fingers and toes, and spinal defects. Diagnosis is typically made through ultrasounds, x-rays, MRI, CT scans, or chromosome studies. Treatments focus on addressing specific physical problems, though many infants have difficulties surviving beyond the first few weeks due to neurological or heart issues.
Alkaptonuria
Alkaptonuria is a rare genetic disorder that causes the buildup of homogentisic acid in the body's tissues due to a defect in the HGD gene. This buildup leads to dark pigmentation of cartilage and other connective tissues, as well as arthritis later in life. Affected individuals' urine turns black upon exposure to air, and testing for alkaptonuria involves adding ferric chloride to urine samples. While there is no cure, high doses of vitamin C may help slow the progression of symptoms.
Chromosome abnormalities by Zheng & Laysa (PD2G)
The document discusses various types of chromosomal abnormalities including numerical abnormalities (changes in chromosome number) and structural abnormalities (changes in chromosome structure). It provides examples of several specific chromosomal disorders, the causes of chromosomal abnormalities, and characteristic features of several conditions involving extra or missing chromosomes, including Down syndrome, Turner syndrome, and Klinefelter syndrome.
Autosomal Aberrations
The document discusses several autosomal aberrations including deletions, duplications, and trisomies of different chromosomes that result in genetic disorders. It describes the signs and symptoms of several conditions including Wolf-Hirschhorn Syndrome caused by a deletion on chromosome 4, Cri du Chat caused by a deletion on chromosome 5, and Down Syndrome caused by trisomy of chromosome 21. It also provides details on the characteristic physical features of each condition.
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4 Unit - I Chromosomal aberrations, Patterns of Inheritance.pptx
This document provides information on chromosomal aberrations and patterns of inheritance. It discusses that chromosomal aberrations are changes in chromosome structure or number, and can be numerical (changes in total number) or structural (changes in chromosome shape). It describes several types of numerical aberrations like trisomy, monosomy, and polyploidy. It also discusses structural aberrations including translocations, inversions, deletions, and more. The document then covers patterns of inheritance, explaining Mendel's laws of segregation, independent assortment, and dominance in transmitting traits from parents to offspring.
Down syndrome
Down syndrome is a genetic disorder caused by the presence of an extra chromosome 21. It can be caused by trisomy 21, translocation, or mosaicism. Common symptoms include distinctive facial features, poor muscle tone, cognitive delays, and heart defects. While there is no cure, early intervention including speech, physical, and occupational therapy can help children with Down syndrome reach their full potential. Lifespan and quality of life have improved significantly in recent decades for those living with Down syndrome.
Lecture rickets
Rickets is a childhood bone disease caused by vitamin D deficiency and a lack of calcium and phosphate. It results in soft, weak bones that can lead to skeletal deformities. Symptoms include bowed legs, knock-knees, frontal bossing of the skull, and chest deformities like pigeon chest. Laboratory findings often include low calcium, phosphorus, and vitamin D levels as well as elevated alkaline phosphatase and parathyroid hormone levels. Radiographs show widened growth plates and fraying and cupping of the bone metaphysis. The condition is treated by supplementing with vitamin D and calcium.
Achondroplasia
Achondroplasia is a genetic condition that results in abnormally short limbs and an enlarged head. It is caused by mutations in the FGFR3 gene. Symptoms include bowed legs, prominent forehead, and abnormal finger spacing. While there is no cure, treatment focuses on supportive care and monitoring for potential spinal issues. The condition can be diagnosed before or after birth based on physical features and imaging tests.
Klinefelter Syndrome
Klinefelter syndrome is a genetic condition affecting males, and it often isn't diagnosed until adulthood. Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone.
Klinefelter syndrome (KS) is a condition that occurs in males when they have an extra X chromosome. Some males with KS have no obvious signs or symptoms while others may have varying degrees of cognitive, social, behavioral, and learning difficulties. Adults with Klinefelter syndrome may also have primary hypogonadism (decreased testosterone
Klinefelter syndrome is a genetic condition affecting males, and it often isn't diagnosed until adulthood. Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone.
Albinism
Albinism is a genetic condition where people are born without the usual pigment (color) in their bodies. Their bodies aren't able to make a normal amount of melanin, the chemical that is responsible for eye, skin, and hair color. So most people with albinism have very pale skin, hair, and eyes.
Albinism
Albinism is a genetic disorder that causes partial or complete lack of melanin pigment in the skin, hair and eyes. Melanin is responsible for skin, hair and eye color and protects against UV radiation. There are different types of albinism depending on whether the lack of melanin affects just the eyes or both eyes and skin. The most common types are oculocutaneous albinism, which affects eyes and skin, and ocular albinism, which only affects the eyes. Albinism is usually inherited in an autosomal recessive pattern and can cause vision problems, light sensitivity, and higher skin cancer risk. While there is no cure, treatments focus on vision rehabilitation and protection from UV exposure.
Albinism powerpoint[1]
Hermansky-Pudlak syndrome is a rare genetic disorder characterized by oculocutaneous albinism which causes abnormal pigmentation of the skin, hair and eyes. It is caused by mutations in genes responsible for producing protein complexes that construct lysosome-related organelles important for pigment production. The condition is inherited in an autosomal recessive pattern and causes fair skin/hair color, visual impairment, and increased risk of skin damage from sun exposure. Diagnosis involves examining physical features and genetic testing. While there is no cure, treatment focuses on protecting the skin and eyes from sun exposure.
EDWARD SYNDROME
Edwards syndrome, also known as Trisomy 18, is a genetic disorder caused by the presence of an extra 18th chromosome. It results in physical abnormalities and intellectual disabilities. Individuals with Edwards syndrome often have heart defects, respiratory issues, and feeding difficulties. Prognosis is generally poor, with 50% surviving the first week and only 5-10% living beyond one year. Treatment focuses on management of symptoms and organ dysfunction. The condition is not inherited but rather caused by a random chromosomal error and cannot be passed to future generations.
ETIOLOGY, PATHOLOGY AND PATHOGENESIS OF CORNEAL ULCER
Corneal ulcer is a discontinuation of the normal corneal epithelial surface associated with necrosis of surrounding corneal tissue, characterized pathologically by edema and cellular infiltration. It can be classified based on location, purulence, association with hypopyon, depth, and slough formation. Common bacterial causes include Staphylococcus aureus and Pseudomonas aeruginosa. Fungal keratitis is associated with filamentous fungi like Aspergillus. Herpes simplex virus causes infectious epithelial keratitis manifesting as dendritic or geographic ulcers. Mooren's ulcer is a severe, peripheral ulcerative keratitis of unknown etiology.
Mental retardation
Mental retardation is characterized by deficits in cognitive abilities and adaptive functioning that manifest during the developmental period. It is classified based on IQ scores into mild, moderate, severe and profound categories. The causes include genetic conditions like Down syndrome, fragile X syndrome, and inborn errors of metabolism. It can also be caused by acquired factors like maternal infections, childhood illnesses, trauma, and toxins. Diagnosis involves assessing cognitive abilities, adaptive skills, and ruling out other conditions. Prognosis depends on etiology and associated problems. Treatment focuses on education, therapies, social support, and prevention of secondary issues.
Albinism
Albinism is a genetic condition that causes little or no pigmentation in the skin, hair, and eyes. It results from a faulty gene that prevents the body from producing typical amounts of melanin. People with albinism often experience vision problems, sensitivity to light, and lack of color in their features. While albinism has been observed throughout history, it was not formally recognized as a genetic condition until 1908. Today, genetic testing can help diagnose different types of albinism, while treatments focus on protecting the skin and eyes from sunlight and correcting vision issues.
Rickets
Rickets is a childhood bone disease caused by vitamin D deficiency and lack of calcium or phosphorus. It results in soft, weak bones that can lead to skeletal deformities. The document outlines the pathogenesis of rickets, describing how deficiencies disrupt normal bone mineralization. Clinical signs include bone pain, bowed legs, and chest deformities. Diagnosis involves blood tests and x-rays of bones showing widened growth plates. Treatment is vitamin D supplementation with calcium and phosphorus to correct deficiencies and allow healing. Prevention involves adequate sunlight exposure, vitamin D supplementation in infants, and dietary calcium intake.
Ocular Trauma
This document summarizes ocular trauma including extraocular foreign bodies, blunt trauma, penetrating trauma, and chemical injuries. It describes signs, symptoms, complications, investigations, and treatments for various types of eye injuries including hyphema, blowout fractures, iris tears, retinal detachment, and intraocular foreign bodies. Surgical management aims to repair wounds, remove foreign bodies or infected tissue, and prevent infections like endophthalmitis or sympathetic ophthalmia which can spread between eyes. Prognosis depends on severity and timing of treatment for the initial trauma.
Albinism
Albinism is a genetic disorder characterized by little or no production of melanin pigment, resulting in pale skin, hair and eyes. It is caused by a recessive allele that prevents the production of tyrosinase, an enzyme needed to produce melanin from the amino acid tyrosine. There are two main types: oculocutaneous albinism affecting the eyes, skin and hair, and ocular albinism only affecting the eyes. Treatments include protective clothing, sunglasses and sunscreen to prevent sun damage.
MYOPIA
This document discusses myopia, including its optics, classification, treatment, and prognosis. It defines myopia as a refractive error where parallel light rays focus in front of the retina. Myopia is classified as axial, curvatural, index, or acquired. Treatment options include optical correction with concave lenses, surgery, general measures like visual hygiene, and low vision aids for high myopia. Pathological myopia is a form characterized by a rapidly progressive refractive error and increased risks of retinal detachment and other complications.
Turner syndrome presentation last
Turner syndrome is caused by complete or partial monosomy of the X chromosome in females. It is characterized by short stature, infertility, and other physical traits. The document discusses the history and genetics of Turner syndrome, including that the most common karyotype is 45,X and variants involve an isochromosome or ring chromosome. Phenotypic features can range from mild to severe and include lymphedema, heart and kidney problems, learning disabilities, and infertility. Prenatal diagnoses are now possible by ultrasound abnormalities or amniocentesis. Treatment focuses on growth hormone, estrogen therapy, and managing associated health issues.
Achondroplasia
Achondroplasia is a genetic disorder characterized by disproportionate short stature and limb abnormalities. It results from a mutation on chromosome 4 that causes a defect in bone growth by disrupting endochondral ossification. Individuals with achondroplasia have short stature, an enlarged head, midface hypoplasia, spinal abnormalities, and shortened limbs disproportionately affecting the arms and thighs. Complications can include neurological problems, respiratory issues, and spinal stenosis. While there is no cure, treatment focuses on supportive care, surgery to address orthopedic issues, and in some cases growth hormone therapy.
Patau Syndrome
Patau Syndrome, also known as Trisomy 13, is a genetic disorder caused by the presence of an extra copy of chromosome 13 or the improper placement of chromosome 13. It results in severe physical and mental abnormalities such as heart defects, unusual facial features, small head size, missing or small eyes, extra fingers and toes, and spinal defects. Diagnosis is typically made through ultrasounds, x-rays, MRI, CT scans, or chromosome studies. Treatments focus on addressing specific physical problems, though many infants have difficulties surviving beyond the first few weeks due to neurological or heart issues.
Alkaptonuria
Alkaptonuria is a rare genetic disorder that causes the buildup of homogentisic acid in the body's tissues due to a defect in the HGD gene. This buildup leads to dark pigmentation of cartilage and other connective tissues, as well as arthritis later in life. Affected individuals' urine turns black upon exposure to air, and testing for alkaptonuria involves adding ferric chloride to urine samples. While there is no cure, high doses of vitamin C may help slow the progression of symptoms.
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4 Unit - I Chromosomal aberrations, Patterns of Inheritance.pptx
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ETIOLOGY, PATHOLOGY AND PATHOGENESIS OF CORNEAL ULCER
ETIOLOGY, PATHOLOGY AND PATHOGENESIS OF CORNEAL ULCER
Similar to Cat eye syndrome
Chromosome abnormalities by Zheng & Laysa (PD2G)
The document discusses various types of chromosomal abnormalities including numerical abnormalities (changes in chromosome number) and structural abnormalities (changes in chromosome structure). It provides examples of several specific chromosomal disorders, the causes of chromosomal abnormalities, and characteristic features of several conditions involving extra or missing chromosomes, including Down syndrome, Turner syndrome, and Klinefelter syndrome.
Autosomal Aberrations
The document discusses several autosomal aberrations including deletions, duplications, and trisomies of different chromosomes that result in genetic disorders. It describes the signs and symptoms of several conditions including Wolf-Hirschhorn Syndrome caused by a deletion on chromosome 4, Cri du Chat caused by a deletion on chromosome 5, and Down Syndrome caused by trisomy of chromosome 21. It also provides details on the characteristic physical features of each condition.
Genetics
Chromosomal aberrations refer to any changes in the normal structure or number of chromosomes which can often result in physical or mental abnormalities. There are two main types of chromosomal disorders: aneuploidy which is an abnormal number of chromosomes such as trisomy where there is an extra chromosome, and structural abnormalities where parts of chromosomes are rearranged or deleted. Some specific chromosomal disorders discussed include Klinefelter syndrome where males have an extra X chromosome, Down syndrome or Trisomy 21 which causes developmental delays, and Turner syndrome where females are missing an X chromosome. Other disorders mentioned are Patau syndrome, Cri-du-chat syndrome, Edwards syndrome, and Cat eye syndrome each which have distinct physical
Chromosomal aberrations
Chromosomal aberrations disrupt the normal chromosomal content of cells and are a major cause of genetic conditions in humans. Some examples described are Cri du chat syndrome which is caused by a deletion on chromosome 5 and is characterized by a cat-like cry in infants. Down syndrome is caused by an extra copy of chromosome 21 and includes developmental delays. Edward's syndrome involves an extra chromosome 18 and causes serious health issues. Several other syndromes are described that involve deletions or additions of sex chromosomes and can cause developmental delays, physical abnormalities and fertility issues.
Opthalmic disease
This document summarizes various ophthalmic diseases that affect the eyelids, conjunctiva, cornea, anterior uvea, lens, and ocular fundus in dogs, cats, horses, and other domestic animal species. It describes common eyelid disorders like entropion and ectropion. It also discusses inflammation of the eyelids, nasolacrimal diseases, conjunctivitis, corneal diseases like ulcers and dystrophies, anterior uveitis, glaucoma, cataracts, inherited retinopathies like progressive retinal atrophy, and chorioretinitis. The summary provides an overview of the key ophthalmic conditions and diseases addressed in the document.
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- Ectodermal dysplasia, which causes
ploidy
Ploidy refers to the number of complete sets of chromosomes in a cell or organism. There are several types of ploidy:
Aneuploidy involves an abnormal number of chromosomes and can cause conditions like Down syndrome. Hypoploidy and hyperploidy refer to having fewer or more chromosomes than normal. Specific types include monosomy, nullisomy, trisomy, and tetrasomy. Euploidy involves having full sets of chromosomes and includes diploidy, which is the normal state for somatic cells. Polyploidy is when cells have more than two sets of chromosomes. Ploidy variations can impact fertility and cause genetic disorders.
Trisomy 13-dr .pptx
Patau syndrome, also known as trisomy 13, is a rare genetic disorder caused by the presence of an extra copy of chromosome 13. It affects about 1 in 12,000 live births. More than 80% of infants with Patau syndrome die within the first year of life due to severe developmental defects. Common features include intellectual disability, low birth weight, heart defects, eye and skeletal abnormalities. While there is no cure, treatment focuses on surgery to address physical defects and therapies to support development.
Genetic Disorders Pug
Pugs are prone to various genetic disorders affecting the eyes, respiratory system, musculoskeletal system, skin, heart, nervous system, and immune system. Common eye disorders include keratoconjunctivitis sicca, entropion, and eyelash abnormalities. Respiratory issues stem from the pug's brachycephalic facial structure and include noisy breathing, coughing, and reduced exercise tolerance. Skin disorders like demodicosis and fold dermatitis often occur. Overall, pugs have 14 health concerns and disorders that are relatively common for the breed.
Dysmoorphology
This document describes various phenotypic features seen in chromosomal abnormalities and genetic syndromes, organized by body system. It provides detailed descriptions of head and brain abnormalities like microcephaly, eye conditions like coloboma, mouth and jaw issues such as cleft lip and palate, and limb differences including phocomelia. Common physical exam findings are presented for each body part system along with the genetic conditions they may indicate.
Diseases of skin 6 / dental implant courses by Indian dental academy
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Lab 5 dina patho
This document discusses several developmental defects of the oral and maxillofacial region including the bone. It describes coronoid hyperplasia, condylar hyperplasia, bifid condyle, and exostoses. It notes that exostoses like the torus mandibularis consist of dense cortical bone with some trabecular bone and fatty marrow. It also discusses Eagle Syndrome which is the elongation or mineralization of the styloid process that can compress nerves or blood vessels, causing symptoms. Finally, it mentions Stafne defect.
Scleroderma
Scleroderma is a rare autoimmune disease characterized by hardening of the skin and internal organs. There are two main forms: localized, which only affects the skin, and systemic, which also damages internal organs like the heart, lungs, and kidneys. Systemic scleroderma can be limited, mainly affecting the hands, arms, and face, or diffuse, rapidly progressing and affecting more widespread areas of skin and internal organs. Common complications include pulmonary arterial hypertension, esophageal dysfunction, and kidney or heart failure. There is no cure, but organ complications are treated.
Ocular menifestation of neurological diseases
This document summarizes various ocular manifestations of different neurological diseases. It discusses infections like TORCH which can cause ocular damage through direct action of the infecting agent, teratogenic effects, or delayed reactivation after birth, leading to issues like retinitis, choroiditis, cataracts. Neurological diseases discussed in relation to their ocular effects include tuberculosis, syphilis, leprosy, Marfan syndrome, Down syndrome, neurodegenerative conditions, and more. Specific findings associated with each condition are outlined such as Kayser-Fleischer rings in Wilson's disease or port wine stains in Sturge Weber syndrome.
Ophthalmoscopy & otoscopy
This document provides information about performing an ophthalmoscopic examination, including descriptions of different types of ophthalmoscopes, examination techniques, and common findings. It discusses examining the optic disc, blood vessels, and fundus, as well as conditions that can be identified such as papilledema, retinal artery occlusion, and diabetic retinopathy. Precautions for using mydriatic drops are also outlined.
Cone and Rod Dystrophy
This document provides information about cone and rod dystrophy (CORD), including its genetics, clinical presentation, classification, and mechanisms. It discusses how CORD is a genetically heterogeneous group of inherited retinal dystrophies involving both cone and rod photoreceptors. The document outlines the typical stages and symptoms of CORD and compares it to other conditions like achromatopsia. It also describes syndromic forms of CORD and provides a classification system for CORD based on genetics.
Common Cases: Cornea
Dr. Riyad Banayot discusses various corneal dystrophies and conditions. He describes key examination findings for different types of corneal dystrophies including granular dystrophy, lattice dystrophy, macular dystrophy, and Schnyder crystalline dystrophy. Clinical features, inheritance patterns, staining patterns, and associated systemic findings are provided for each condition. Treatment options including corneal graft are mentioned where relevant.
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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
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Cat eye syndrome
- 1. Cat eye syndrome Presented by: AhmedYahya
- 2. Cat eye syndrome or Schmid–Fraccaro syndrome, is a rare condition caused by the short arm (p) and a small section of the long arm (q) of human chromosome 22 being present three (trisomic) or four times (tetrasomic) instead of the usual two times.
- 3. Signs and symptoms -Unilateral or bilateral iris coloboma (absence of tissue from the colored part of the eyes) -Preauricular pits/tags (small depressions/growths of skin on the outer ears) -Anal atresia (abnormal obstruction of the anus) -Downward-slanting Palpebral fissures (openings between the upper and lower eyelids) -Kidney problems, Short stature and Cardiac defects. -Scoliosis/Skeletal problems.
- 4. The term "cat eye" syndrome was coined because of the particular appearance of the vertical colobomas in the eyes of some patients. However, over half of the CES patients in the literature do not present with this trait.
- 5. History The abnormalities common to cat eye syndrome were first cataloged in 1899.It was described in association with a small marker chromosome in 1965.Early reports of cat eye syndrome discuss the possibility of chromosome 13 involvement. Now, CES is considered to be present with the chromosome 22 trisomy findings.