Full Text PDF - Jaypee Journals
... Karyotype showed mother-46XX and father- 46XY. Alfafetoprotein was increased. Ultrasound examination showed anencephalic twin pregnancy. Twin female fetuses received with placenta for complete autopsy revealed following features: Common features were as follows: 1. Anencephaly (absence of cranium wi ...
... Karyotype showed mother-46XX and father- 46XY. Alfafetoprotein was increased. Ultrasound examination showed anencephalic twin pregnancy. Twin female fetuses received with placenta for complete autopsy revealed following features: Common features were as follows: 1. Anencephaly (absence of cranium wi ...
Teaching Handout – Cardiology 1
... Tetralogy of Fallot = pulmonary outflow tract obstruction/pulm.stenosis Tricuspid regurg – often difficult to hear, and usually only audible when significant TR and ...
... Tetralogy of Fallot = pulmonary outflow tract obstruction/pulm.stenosis Tricuspid regurg – often difficult to hear, and usually only audible when significant TR and ...
Cancer Prone Disease Section Nijmegen breakage syndrome Atlas of Genetics and Cytogenetics
... High frequency and early development of lymphomas, more often involving B-cells, in contrast with those found in AT. Other forms of cancer may also be at higher risk. ...
... High frequency and early development of lymphomas, more often involving B-cells, in contrast with those found in AT. Other forms of cancer may also be at higher risk. ...
5. Why are there several children with Down syndrome in my family?
... joined end to end with another chromosome (only chromosomes 13, 14, 15, 21 or 22 are involved in Robertsonian translocations). It is not possible to determine from physical examination if a person has trisomy 21 or a Robertsonian translocation causing Down syndrome because both result in the same cl ...
... joined end to end with another chromosome (only chromosomes 13, 14, 15, 21 or 22 are involved in Robertsonian translocations). It is not possible to determine from physical examination if a person has trisomy 21 or a Robertsonian translocation causing Down syndrome because both result in the same cl ...
congenital heart disease - Easymed.club
... Incidence in stillborns (3-4%), aborted fetus (10-25%), premature infants (2%) Diagnosis made in 40-50% by one week of age, in 50-60% by 1 mo of age ...
... Incidence in stillborns (3-4%), aborted fetus (10-25%), premature infants (2%) Diagnosis made in 40-50% by one week of age, in 50-60% by 1 mo of age ...
Liddle Syndrome in Association with Aortic Dissection
... in 1963 [1]. It is perceived to be a very rare disease with a reported prevalence of < 1/1,000,000 at present [2]. Up until 2008, only 30 patients affected with this monogenetic disorder had been reported in the world [9]. Two small single-center studies have estimated the prevalence to be about 1.5 ...
... in 1963 [1]. It is perceived to be a very rare disease with a reported prevalence of < 1/1,000,000 at present [2]. Up until 2008, only 30 patients affected with this monogenetic disorder had been reported in the world [9]. Two small single-center studies have estimated the prevalence to be about 1.5 ...
Marfan`s Syndrome
... The doctor may diagnose Marfan syndrome if the patient has a family history of the disease and there are specific problems in at least two of the body systems known to be affected. For a patient with no family history of the disease, at least three body systems must be affected before a diagnosis is ...
... The doctor may diagnose Marfan syndrome if the patient has a family history of the disease and there are specific problems in at least two of the body systems known to be affected. For a patient with no family history of the disease, at least three body systems must be affected before a diagnosis is ...
shprintzen goldberg syndrome
... What causes Shprintzen-Goldberg syndrome? Most cases of Shprintzen-Goldberg syndrome are caused by a change (mutation) in the SKI gene. This gene affects many cell types throughout the body and appears to play a role in the development of many tissues, including the skull, other bones, skin, and brai ...
... What causes Shprintzen-Goldberg syndrome? Most cases of Shprintzen-Goldberg syndrome are caused by a change (mutation) in the SKI gene. This gene affects many cell types throughout the body and appears to play a role in the development of many tissues, including the skull, other bones, skin, and brai ...
Centromere position. - Clayton State University
... • Turner Syndrome was discovered in 1938 by Dr. Henry Turner. • In 1938, he also described and came up with the first treatment for Turner Syndrome. • He observed a set of common physical features in his patients, however it wasn’t until 1960 when the chromosomal abnormality was found. ...
... • Turner Syndrome was discovered in 1938 by Dr. Henry Turner. • In 1938, he also described and came up with the first treatment for Turner Syndrome. • He observed a set of common physical features in his patients, however it wasn’t until 1960 when the chromosomal abnormality was found. ...
Marfan*s syndrome: one name, several diseases
... B) In some cases only genetic tests may differentiate between Marfan syndrome and related disorders C) The familial screening in Marfan syndrome follows the same rules as for related disorders ...
... B) In some cases only genetic tests may differentiate between Marfan syndrome and related disorders C) The familial screening in Marfan syndrome follows the same rules as for related disorders ...
Marfan syndrome is a heritable condition that affects the connective
... of the eye. The lens may be slightly higher or lower than normal, and may be shifted off to one side. The dislocation may be minimal, or it may be pronounced and obvious. One serious complication that may occur with this disorder is retinal detachment. -Heart and blood vessels, cardiovascular system ...
... of the eye. The lens may be slightly higher or lower than normal, and may be shifted off to one side. The dislocation may be minimal, or it may be pronounced and obvious. One serious complication that may occur with this disorder is retinal detachment. -Heart and blood vessels, cardiovascular system ...
Acute respiratory distress in Pena-Shokeir syndrome
... The mother reported that the girl had appeared to be quite fatigued throughout the preceding 2 weeks, but that she was otherwise normal. The girl’s medical history was significant for reactive airway disease and restrictive lung disease secondary to pectus carinatum with severe kyphoscoliosis. The ch ...
... The mother reported that the girl had appeared to be quite fatigued throughout the preceding 2 weeks, but that she was otherwise normal. The girl’s medical history was significant for reactive airway disease and restrictive lung disease secondary to pectus carinatum with severe kyphoscoliosis. The ch ...
Hypoplastic left heart syndrome with parchment left ventricle
... guided the decision of termination. Autopsy examination demonstrated the HLHS without extracardiac anomalies. In view of the previous pregnancy loss, and associated recurrence risk counseling and karyotyping was advised. ...
... guided the decision of termination. Autopsy examination demonstrated the HLHS without extracardiac anomalies. In view of the previous pregnancy loss, and associated recurrence risk counseling and karyotyping was advised. ...
Down syndrome and heart disease
... The answer is unknown. It is certainly an interesting question for researchers. It will be interesting in the future to see if a prevention or treatment for coronary artery disease (in people without DS) is devised from this information. In the meantime, the information can help guide an evaluation ...
... The answer is unknown. It is certainly an interesting question for researchers. It will be interesting in the future to see if a prevention or treatment for coronary artery disease (in people without DS) is devised from this information. In the meantime, the information can help guide an evaluation ...
IOSR Journal of Dental and Medical Sciences (IOSR-JDMS)
... Marfansyndrome is a heritable connective tissue disorder having prevalenceof 1 in 5000 individuals. It is inherited as anautosomal dominant trait with complete penetrance. The individuals present with involvement of cardiovascular, ocular, skeletal, pulmonarysystem, skin and dura.1The condition is d ...
... Marfansyndrome is a heritable connective tissue disorder having prevalenceof 1 in 5000 individuals. It is inherited as anautosomal dominant trait with complete penetrance. The individuals present with involvement of cardiovascular, ocular, skeletal, pulmonarysystem, skin and dura.1The condition is d ...
Lecture 03. General characterization of monogenic pathology
... • neurofibromatosis type 1 may reduce overall life expectancy as much as 15 years ...
... • neurofibromatosis type 1 may reduce overall life expectancy as much as 15 years ...
Abstract_Rido_Maulana_INAHRS
... Indonesia/ National Cardiovascular Center Harapan Kita, Jakarta, Indonesia ...
... Indonesia/ National Cardiovascular Center Harapan Kita, Jakarta, Indonesia ...
Supraventricular Tachycardia vs. Marfan`s Syndrome
... the aorta. There are also fibromyxomatous would be important in a patient with idiochanges causing defective valve cusps, lead- pathic dilated cardiomyopathy to have a ing to aortic insufficiency and mitral insuffi-detailed family history, since approximately ciency. Conduction defects have also bee ...
... the aorta. There are also fibromyxomatous would be important in a patient with idiochanges causing defective valve cusps, lead- pathic dilated cardiomyopathy to have a ing to aortic insufficiency and mitral insuffi-detailed family history, since approximately ciency. Conduction defects have also bee ...
Cancer Prone Disease Section Klippel Trenaunay syndrome Atlas of Genetics and Cytogenetics
... conceptive coaguloapthy) are described. Bleeding from rectum, uterus etc may occur depending on the location of vascular lesions. Cardiac failure may occur if there is associated high flow lesion in cases which are labeled as Park Weber syndrome. ...
... conceptive coaguloapthy) are described. Bleeding from rectum, uterus etc may occur depending on the location of vascular lesions. Cardiac failure may occur if there is associated high flow lesion in cases which are labeled as Park Weber syndrome. ...
Neonatal Cardiology
... Pathology: aortic atresia/severe stenosis, mitral atresia/severe stenosis, hypoplastic left ventricle and aortic arch. 1.5% of congenital heart defects. Most common cause of cardiac related neonatal mortality. Ductal dependent for systemic blood flow at birth Patients may have associated chrom ...
... Pathology: aortic atresia/severe stenosis, mitral atresia/severe stenosis, hypoplastic left ventricle and aortic arch. 1.5% of congenital heart defects. Most common cause of cardiac related neonatal mortality. Ductal dependent for systemic blood flow at birth Patients may have associated chrom ...
Coffin Siris Syndrome
... curly, long eyelashes. Affected individuals may also have distinctive malformations of the limbs, such as unusually small hands and feet, inward deviation (clinodactyly) of the fifth fingers, or webbing (syndactyly) of certain toes. Less commonly, there may be absence of the forearms, hands, and fin ...
... curly, long eyelashes. Affected individuals may also have distinctive malformations of the limbs, such as unusually small hands and feet, inward deviation (clinodactyly) of the fifth fingers, or webbing (syndactyly) of certain toes. Less commonly, there may be absence of the forearms, hands, and fin ...
Powerpoint
... Romano-Ward (RW) syndrome resulting from autosomal-dominant heterozygous mutations, nomenclature is considered historical because of low average QTc penetrance of ≈60%;148 mechanism-based classification by protein dysfunction is preferable.¶LQTS- and CPVT1causing mutations probably account for ≈10% ...
... Romano-Ward (RW) syndrome resulting from autosomal-dominant heterozygous mutations, nomenclature is considered historical because of low average QTc penetrance of ≈60%;148 mechanism-based classification by protein dysfunction is preferable.¶LQTS- and CPVT1causing mutations probably account for ≈10% ...
Aim - PLoS ONE
... die from cardiovascular disease and have a fivefold greater risk of developing type 2 diabetes (Zimmet, Alberti, & Shaw, 2005). The underlying causative factors of the metabolic syndrome are acknowledged to be both insulin resistance and abdominal obesity (Barr et al., 2006). Environmental factors s ...
... die from cardiovascular disease and have a fivefold greater risk of developing type 2 diabetes (Zimmet, Alberti, & Shaw, 2005). The underlying causative factors of the metabolic syndrome are acknowledged to be both insulin resistance and abdominal obesity (Barr et al., 2006). Environmental factors s ...
Scombroid Syndrome and Allergic Acute Coronary Events
... SS definitive diagnosis implies that allergic symptoms are present, an antihistaminic therapy is effective and the presence of high levels of histamine in the fishery product. SS often does not show itself in a dangerous way but the physician of the Emergency Care unit should keep in mind that its e ...
... SS definitive diagnosis implies that allergic symptoms are present, an antihistaminic therapy is effective and the presence of high levels of histamine in the fishery product. SS often does not show itself in a dangerous way but the physician of the Emergency Care unit should keep in mind that its e ...
Lown-Ganong-Levine Syndrome
... The history is of bouts of tachycardia that may present as rapid palpitations. It most often starts in early adulthood but can present in childhood. It tends to get less frequent with passing years. In the otherwise healthy person there is probably no other feature but, where the heart and circulati ...
... The history is of bouts of tachycardia that may present as rapid palpitations. It most often starts in early adulthood but can present in childhood. It tends to get less frequent with passing years. In the otherwise healthy person there is probably no other feature but, where the heart and circulati ...
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.