Summer 2013 - Connective tissue disorders and pelvic floor muscle
... There are over 200 identified CTD’s with the majority of the disorders affecting women more than men. Some CTD’s are heritable, such as with Elhers-Danlos Syndrome, Marfan Syndrome and Osteogenesis Imperfecta, although in most cases the cause is unknown. Here at Beyond Basics Physical Therapy, we ha ...
... There are over 200 identified CTD’s with the majority of the disorders affecting women more than men. Some CTD’s are heritable, such as with Elhers-Danlos Syndrome, Marfan Syndrome and Osteogenesis Imperfecta, although in most cases the cause is unknown. Here at Beyond Basics Physical Therapy, we ha ...
TAR Syndrome
... Low platelet count - 15-30 x 109/L. Eosinophilia (in 50% of patients). Leukocytosis - WBC greater than 35 x 109/L with left shift, leukaemoid reaction. Anaemia secondary to bleeding. Genetic tests - although thought to be an autosomal recessive condition, genetic testing is usually normal, helping d ...
... Low platelet count - 15-30 x 109/L. Eosinophilia (in 50% of patients). Leukocytosis - WBC greater than 35 x 109/L with left shift, leukaemoid reaction. Anaemia secondary to bleeding. Genetic tests - although thought to be an autosomal recessive condition, genetic testing is usually normal, helping d ...
Loeys-Dietz Syndrome – an Overview
... aneurysms are not limited to the aortic root, but may occur throughout the arterial tree. Many of these distant arterial aneurysms cannot be detected by echocardiography, the method most commonly used for monitoring aortic dilation in MFS patients, but require screening with magnetic resonance angio ...
... aneurysms are not limited to the aortic root, but may occur throughout the arterial tree. Many of these distant arterial aneurysms cannot be detected by echocardiography, the method most commonly used for monitoring aortic dilation in MFS patients, but require screening with magnetic resonance angio ...
142e926d30b7e6bb1fc54138a557531e
... D ✘ End-organ damage due to hypertension is present E ✘ Most women experience a small rise in BP on starting the pill. However, this rise is exaggerated in some individuals 1.4 A ✘ B ✘ Total cholesterol may be normal but HDL is usually reduced C ✘ Proteinuria may occur and is associated with an incr ...
... D ✘ End-organ damage due to hypertension is present E ✘ Most women experience a small rise in BP on starting the pill. However, this rise is exaggerated in some individuals 1.4 A ✘ B ✘ Total cholesterol may be normal but HDL is usually reduced C ✘ Proteinuria may occur and is associated with an incr ...
Nursing Care of the Child With a Genetic Disorder
... Turner syndrome affects growth and sexual development. – Girls with this disorder are shorter than normal, and may fail to start puberty when they should. This is because the ovaries (which produce eggs, as well as the sex hormones estrogen and progesterone) fail to develop properly. Women with Turn ...
... Turner syndrome affects growth and sexual development. – Girls with this disorder are shorter than normal, and may fail to start puberty when they should. This is because the ovaries (which produce eggs, as well as the sex hormones estrogen and progesterone) fail to develop properly. Women with Turn ...
7. Oswaldo Hasb n - Cri-du-Chat
... Mental retardation/delayed development High-pitched cat-like cry (Same cry is seen in patients with a deletion confined to 5p15.3 and without the typical dysmorphic and severe developmental features of the syndrome). ...
... Mental retardation/delayed development High-pitched cat-like cry (Same cry is seen in patients with a deletion confined to 5p15.3 and without the typical dysmorphic and severe developmental features of the syndrome). ...
Chapter 14 ?`s
... phenylalanine doesn’t work; All babies born in SD are tested for this Inability to distinguish the colors (especially red from green) X-linked recessive disorder in which the protein that clots blood is missing causing excessive bleeding after injuries Trisomy-21; Three #21 chromosomes; characterist ...
... phenylalanine doesn’t work; All babies born in SD are tested for this Inability to distinguish the colors (especially red from green) X-linked recessive disorder in which the protein that clots blood is missing causing excessive bleeding after injuries Trisomy-21; Three #21 chromosomes; characterist ...
Congenital heart disease
... • -There is a 50% chance of a child inheriting Marfan syndrome if one parent is affected. • - Women who have minimal cardiovascular involvement and normal aortic root dimensions have a befer pregnancy outcome. • - Careful monitoring is required throughout pregnancy, including the use of serial echoc ...
... • -There is a 50% chance of a child inheriting Marfan syndrome if one parent is affected. • - Women who have minimal cardiovascular involvement and normal aortic root dimensions have a befer pregnancy outcome. • - Careful monitoring is required throughout pregnancy, including the use of serial echoc ...
Common Genetic Syndromes and their Medical Consequences
... Hypotonia contributes to gross motor delays in childhood Most are mainstreamed (25% have learning disabilities), verbal performance lower than nonverbal Hearing loss common Mild mental retardation 30% Self esteem is usually comparable to age related peers Sometimes depression, anxiety ...
... Hypotonia contributes to gross motor delays in childhood Most are mainstreamed (25% have learning disabilities), verbal performance lower than nonverbal Hearing loss common Mild mental retardation 30% Self esteem is usually comparable to age related peers Sometimes depression, anxiety ...
Chromosomal Anomalies
... Anomalies of the Sex Chromosomes Failure of the X chromosome to separate ...
... Anomalies of the Sex Chromosomes Failure of the X chromosome to separate ...
Down`s syndrome with Ventricular septal Defect (VsD)
... instead of one, so the resulting fertilized egg has three 21st chromosomes. Hence the scientific name, trisomy 21. The cause of the non disjunction error isn’t known, but there is definitely connection with maternal age. At age 30, for example, a woman has less than a 1 in 1,000 chance of conceiving ...
... instead of one, so the resulting fertilized egg has three 21st chromosomes. Hence the scientific name, trisomy 21. The cause of the non disjunction error isn’t known, but there is definitely connection with maternal age. At age 30, for example, a woman has less than a 1 in 1,000 chance of conceiving ...
Genetics and neurology
... from one parent and none from the other. • due to a loss of function of imprinted genes ie depending on which parent you get it from one bit gets switched off ...
... from one parent and none from the other. • due to a loss of function of imprinted genes ie depending on which parent you get it from one bit gets switched off ...
Consequences of Untreated Ventricular Septal Defect
... Although rare, patients with congenital heart disease can present in their adulthood. Primary care doctors need to recognize this syndrome and execute initial work-up since prognosis and quality of life is very poor when it is left untreated. ...
... Although rare, patients with congenital heart disease can present in their adulthood. Primary care doctors need to recognize this syndrome and execute initial work-up since prognosis and quality of life is very poor when it is left untreated. ...
Document
... Most of the genes involved in neurocognitive and behaviour involve areas of the X chromosome that don’t get inactivated and there are usually two copies of the gene available. ...
... Most of the genes involved in neurocognitive and behaviour involve areas of the X chromosome that don’t get inactivated and there are usually two copies of the gene available. ...
Molecular biology of Turner`s syndrome
... Turner's syndrome was first described in 19381 and results in a clinical picture most frequently comprising short stature and gonadal dysgenesis. Other features may include coarctation of the aorta, renal anomalies, neck webbing, and lymphoedema. The clinical phenotype can be extremely variable even ...
... Turner's syndrome was first described in 19381 and results in a clinical picture most frequently comprising short stature and gonadal dysgenesis. Other features may include coarctation of the aorta, renal anomalies, neck webbing, and lymphoedema. The clinical phenotype can be extremely variable even ...
Sudden Death Syndrome
... Sudden Death Syndrome (SDS) is the wide term used for several causes of cardiac arrest in young people and is usually defined as non-traumatic, non-violent and unexpected. These can be related to the thickening or abnormal structure of the heart muscle or even changes of the electrical impulses that ...
... Sudden Death Syndrome (SDS) is the wide term used for several causes of cardiac arrest in young people and is usually defined as non-traumatic, non-violent and unexpected. These can be related to the thickening or abnormal structure of the heart muscle or even changes of the electrical impulses that ...
The Origins of Genetic Variation (pages 135
... Nondisjunction How can the total number of chromosome combinations be calculated? When does nondisjunction occur? How many possible combinations are there in humans? What is the result of nondisjunction? What does this number mean? ...
... Nondisjunction How can the total number of chromosome combinations be calculated? When does nondisjunction occur? How many possible combinations are there in humans? What is the result of nondisjunction? What does this number mean? ...
Noonan syndrome information sheet
... Diagnosis is based on clinical findings and may be confirmed by genetic testing. The differential diagnoses include Williams syndrome and foetal alcohol syndrome. Facial features characteristically include hypertelorism (widely spaced eyes), ptosis, and down-slanting palpebral fissures. Strabismus a ...
... Diagnosis is based on clinical findings and may be confirmed by genetic testing. The differential diagnoses include Williams syndrome and foetal alcohol syndrome. Facial features characteristically include hypertelorism (widely spaced eyes), ptosis, and down-slanting palpebral fissures. Strabismus a ...
CONGENITAL HEART DEFECTS AND ASSOCIATED GENETIC DISORDERS The
... The arrhythmia results in recurrent spontaneous syncope (loss of consciousness), seizures and sometimes, sudden cardiac death. LTQ syndrome is caused by repolarization defects in cardiac cells LTQ syndromes are heterogeneous group of disorders known as channelopathies because they are caused by defe ...
... The arrhythmia results in recurrent spontaneous syncope (loss of consciousness), seizures and sometimes, sudden cardiac death. LTQ syndrome is caused by repolarization defects in cardiac cells LTQ syndromes are heterogeneous group of disorders known as channelopathies because they are caused by defe ...
Marfan`s Syndrome
... diagram) - where the aorta leaves the heart - and may also affect the part of the aorta (1) that carries blood to the body (the ascending aorta). There may also be abnormalities in the structure of the aortic valve and/or the mitral valve (3), which connects the left atrium and left ventricle. Marfa ...
... diagram) - where the aorta leaves the heart - and may also affect the part of the aorta (1) that carries blood to the body (the ascending aorta). There may also be abnormalities in the structure of the aortic valve and/or the mitral valve (3), which connects the left atrium and left ventricle. Marfa ...
Ellis-van Creveld Syndrome - National Foundation for Ectodermal
... Pennsylvania, Ohio and Indiana. However, non-Amish individuals have been reported to have this condition. The disorder is characterized by abnormalities of the hands, short stature, and defects of the nails and teeth. Sweating is normal. Congenital heart problems may be present. The abnormalities of ...
... Pennsylvania, Ohio and Indiana. However, non-Amish individuals have been reported to have this condition. The disorder is characterized by abnormalities of the hands, short stature, and defects of the nails and teeth. Sweating is normal. Congenital heart problems may be present. The abnormalities of ...
Karyotyping and Pedigrees
... Patau Syndrome Edward Syndrome Klinfelter’s Syndrome Turner Syndrome Super Male Syndrome Super Female Syndrome ...
... Patau Syndrome Edward Syndrome Klinfelter’s Syndrome Turner Syndrome Super Male Syndrome Super Female Syndrome ...
Turner syndrome
Turner syndrome (TS) also known as Ullrich–Turner syndrome, gonadal dysgenesis, and 45,X, is a condition in which a female is partly or completely missing an X chromosome. Signs and symptoms vary among those affected. Often, a short and webbed neck, low-set ears, low hairline at the back of the neck, short stature, and swollen hands and feet are seen at birth. Typically they are without menstrual periods, do not develop breasts, and are unable to have children. Heart defects, diabetes, and low thyroid hormone occur more frequently. Most people with TS have normal intelligence. Many, however, have troubles with spatial visualization such as that needed for mathematics. Vision and hearing problems occur more often.Turner syndrome is not usually inherited from a person's parents. No environmental risks are known and the mother's age does not play a role. Turner syndrome is due to a chromosomal abnormality in which all or part of one of the X chromosomes is missing or altered. While most people have 46 chromosomes, people with TS usually only have 45. The chromosomal abnormality may be present in just some cells in which case it is known as TS with mosaicism. In these cases, the symptoms are usually fewer and possibly none occur at all. Diagnosis is based on physical signs and genetic testing.No cure for Turner syndrome is known. Treatment, however, may help with symptoms. Human growth hormone injections during childhood may increase adult height. Estrogen replacement therapy can promote development of the breasts and hips. Medical care is often required to manage other health problems with which TS is associated.Turner syndrome occurs in between one in 2000 and one in 5000 females at birth. All regions of the world and cultures are affected about equally. People with TS have a shorter life expectancy, mostly due to heart problems and diabetes. Henry Turner first described the condition in 1938. In 1964, it was determined to be due to a chromosomal abnormality.