What Is the Most Common Type of Cardiomyopathy?
Discussion Barth syndrome is characterized by a dilated cardiomyopathy, proximal skeletal muscle weakness, neutropenia and short stature that usually presents at birth or soon after. It is a rare X-linked recessive disease process caused by mutations in the TAZ gene. The TAZ gene codes for tafazzin which alters cardiolipin in mitochondria. Characteristic facies can be seen especially in infancy including a tall and broad forehead, prominent chin and full cheeks, larger ears, and deep-set eyes. Most patients present at birth or soon afterwards but some may not until later in life. Life expectancy is reduced with many childr...
Source: PediatricEducation.org - February 25, 2019 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news
How Common is α -1-Antitrypsin Deficiency?
Discussion α-1-Antitrypsin Deficiency (A1AT) is a common single-gene mutation disease that is homozygous recessive. The normal allele is called M and the most common abnormal allele is Z. There are other alleles though. The gene codes for one of the primary protease inhibitors in the serum, thus those who are homozygous for the Z gene are sometimes referred to as “PIZZ” or “PIZ.” α-1-Antitrypsin is found in all body tissues but is especially important in the serum and lung. As noted it is one of the primary neutrophil protease inhibitors in the serum, and acts to neutralize these enzymes...
Source: PediatricEducation.org - April 24, 2017 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news
What are Potential Health Problems Associated with Polycystic Ovary Syndrome?
DiscussionPolycystic ovary syndrome (PCOS) affects 6-8% of reproductive-age women making it the most common endocrinopathy in this age group. There is no consensus on the specific diagnostic criteria for PCOS in adolescents as many of the characteristics overlap with normal adolescent physiology. However, patients should have evidence of hyperandrogenism, oligo- or amenorrhea, and potentially polycystic ovaries. PCOS has a genetic component although a specific gene has not been identified. Incidence of PCOS is 20-40% for a woman with a family history. Hyperandrogenism Androgen levels change during puberty therefore actual ...
Source: PediatricEducation.org - December 5, 2016 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news
Index of Suspicion in the Nursery * Case 1: Fatal Outcome of Hepatomegaly in a Newborn
(Source: NeoReviews recent issues)
Source: NeoReviews recent issues - October 1, 2015 Category: Pediatrics Authors: Zajac-Spychała, O., Gowin, E., Jołczyk-Potoczna, K., Januszkiewicz-Lewandowska, D. Tags: Pediatric Drug Labeling Update Articles Source Type: news
Index of Suspicion in the Nursery * Case 1: Term Infant With an Absolute Neutrophil Count of Zero * Case 2: Coagulopathy, Hepatomegaly, and Ascites in a Term Newborn
(Source: NeoReviews recent issues)
Source: NeoReviews recent issues - December 1, 2014 Category: Pediatrics Authors: Gaughen, K., Greenwood, C., Albeiruti, R., Kelbel, T. E. Tags: Articles Source Type: news
What is Gianotti-Crosti Syndrome?
Discussion Infectious exanthams are usually considered when rashes are bilateral, symmetric and relatively widespread. They usually involve the trunk too and have associated systemic symptoms. Gianotti-Crosti syndrome (GCS) or acropapular dermatitis of childhood is often misdiagnosed because it doesn’t follow these rules. A discussion of common viral exanthams can be reviewed here and a differential diagnosis of rashes by pattern and distributions can be reviewed here. Dr. Ferdinando Gianotti came from a poor family, underwent several personal tragedies, but entered medicine and created the first department of pedia...
Source: PediatricEducation.org - September 8, 2014 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news
What Treatment is Available for Malaria?
Discussion Malaria is a life-threatening yet preventable and curable disease caused by parasites. In humans, there are 4 species that cause malaria: Plasmodium falciparum, Plasmodium vivax, Plasmodium malariae,and Plasmodium ovale. Plasmodium falciparum is the most deadly and Plasmodium falciparum and Plasmodium vivax are the most common. Plasmodium parasites are transmitted by bites from Anopheles mosquitoes from an infected human. The incubation period is 7-30 days. In 2012, it is estimated to have caused 627,000 deaths mostly among African children. Mortality rates have been decreasing but children, pregnant women, peop...
Source: PediatricEducation.org - April 7, 2014 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news