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Turner Syndrome
Pathophysiology of Turner syndrome Turner syndrome is a symptom complex caused by missing or partially missing X chromosome (45, XO) Signs and Symptoms 1) lack of secondary sex characteristics 2)...
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Mumps
Pathophysiology of Mumps mumps is a: systemic viral infection caused by paramyxovirus, with characteristic finding of parotid enlargement Signs and Symptoms right sided facial swelling characteristic...
View ArticleCrigler-Najjar Syndrome
Pathophysiology 1) autosomal recessive inability of liver to conjugate bilirubin 2) type 1 – more severe; enzyme that conjugates bilirubin is completely inactive 3) type 2 – less severe clinically;...
View ArticleAtaxia-telangiectasia (Louis-Bar Syndrome)
Pathophysiology 1) genetic disorder, usually presenting at age 0-10 years 2) cerebellar malfunctioning 3) strong association with cancer 4) oculocutaneous telangiectasia 5) malfunctioning immune system...
View ArticleDown’s Syndrome (trisomy 21)
Pathophysiology congenital mental retardation caused by trisomy 21 (an extra chromosome 21) Signs and Symptoms 1) moderate mental retardation progressing to severe mental retardation (IQ of 30 in...
View ArticlePrader-Willi Syndrome Classic Clinical Triad
obesity, hypogonadism, mental retardation The post Prader-Willi Syndrome Classic Clinical Triad appeared first on InsideSurgery Medical Information Blog.
View ArticleLong QT Syndrome
Long QT syndrome (LQTS) is an episode arrhythmia usually first presenting in childhood. The average age of first syncopal episode is 14 years with a one year mortality of 20% after first presentation....
View ArticleStill Cardiac Murmur
The Still heart murmur is the most common benign murmur occurring in childhood. First described by George Still in 1909, it can be auscultated at any time during childhood but most commonly presents...
View ArticleVertical Suspension Positioning
To evaluate vertical suspension positioning in a newborn, hold the baby upright with hands under the axilla. Normal children one and four months of age will hold the their heads in the midline with...
View ArticleMarfan’s Disease
Pathophysiology of Marfan’s disease Marfan’s disease is 1) disease of connective tissue 2) marked by dilation of aorta and aortic dissection in a young person Signs and Symptoms 1) tall stature with...
View Article3D Printing Used To Model Baby’s Skull
Drs. Michael Egnor and Elliot Duboys recently used a 3D printed model of a baby’s skull in an intricate surgery to correct anterior plagiocephaly. The infant, Gabriel Dela Cruz, was born with a normal...
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Adrian Peterson Suspended After Anheuser Busch Expresses Concern
Adrian Peterson suspended after Anheuser Busch expresses concern over the current culture of violence in the National Football League. Minnesota Vikings running back Adrian Peterson The stunning...
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Texas Legislature Fails to Expand Marijuana Use
Despite growing evidence of the efficacy of the use of medical marijuana, Texas legislators failed to act on expanding use today. The post Texas Legislature Fails to Expand Marijuana Use appeared...
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Mumps
Pathophysiology of Mumps mumps is a: systemic viral infection caused by paramyxovirus, with characteristic finding of parotid enlargement Signs and Symptoms right sided facial swelling characteristic...
View ArticleCrigler-Najjar Syndrome
Pathophysiology 1) autosomal recessive inability of liver to conjugate bilirubin 2) type 1 – more severe; enzyme that conjugates bilirubin is completely inactive 3) type 2 – less severe clinically;...
View ArticleAtaxia-telangiectasia (Louis-Bar Syndrome)
Pathophysiology 1) genetic disorder, usually presenting at age 0-10 years 2) cerebellar malfunctioning 3) strong association with cancer 4) oculocutaneous telangiectasia 5) malfunctioning immune system...
View ArticleDown’s Syndrome (trisomy 21)
Pathophysiology congenital mental retardation caused by trisomy 21 (an extra chromosome 21) Signs and Symptoms 1) moderate mental retardation progressing to severe mental retardation (IQ of 30 in...
View ArticlePrader-Willi Syndrome Classic Clinical Triad
obesity, hypogonadism, mental retardation The post Prader-Willi Syndrome Classic Clinical Triad appeared first on InsideSurgery Medical Information Blog.
View ArticleLong QT Syndrome
Long QT syndrome (LQTS) is an episode arrhythmia usually first presenting in childhood. The average age of first syncopal episode is 14 years with a one year mortality of 20% after first presentation....
View ArticleStill Cardiac Murmur
The Still heart murmur is the most common benign murmur occurring in childhood. First described by George Still in 1909, it can be auscultated at any time during childhood but most commonly presents...
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