How Does Gaucher Disease Present?
Discussion Gaucher disease (GD) was first described by Philippe Gaucher in 1882. It was the first lysosomal storage disease (LSD) described and is the comparison prototype for many variations and their treatment. There are about 50 LSD and more well-known ones include Fabry, Niemann-Pick and Pompe diseases. LSDs currently have more than 300 different enzymes or membrane proteins affected which cause central nervous system and visceral disease. Overall the frequency of LSDs in aggregate is 1:3000 – 7000 live births. GD has an estimated prevalence of 1:57,000 – 111,000. It is higher within the Ashkenazi Jewish po...
Source: PediatricEducation.org - December 9, 2019 Category: Pediatrics Authors: Pediatric Education Tags: Uncategorized Source Type: news
Yellow fever – Bolivarian Republic of Venezuela
On 13 November 2019, the Venezuela International Health Regulations (IHR) National Focal Point (NFP) and the Venezuela PAHO/WHO Country Office shared information about a confirmed case of yellow fever in Bolivar State. The case-patient is a 46-year-old male resident of the municipality of Gran Sabana, Bolivar State. He was in the locality of Uriman municipality of Gran Sabana within the 19 days prior to the onset of symptoms. Symptom onset was on 14 September 2019, and included fever, chills, nausea, vomiting, epistaxis, petechiae, and diarrhoea. On 26 September 2019, he visited a public hospital in the municipality of Her...
Source: WHO Disease Outbreaks - November 21, 2019 Category: Infectious Diseases Tags: news Source Type: news
The Dengue Dance?
Discussion Dengue is an important arboviral infection that affects about 40% of the world population. It is found mainly in topical and subtropical areas of the world mainly in developing countries but it range is spreading including the United States. A review of common arboviruses can be found here. It is a flaviavirus with 4 distinct serotypes named DENV-1 through DENV-4 and is spread by A. aegypti a day biting mosquito. Infection with one serotype confers immunity to that serotype but not the others. It does offer some protection for cross-infection but this only lasts a few months. Incubation period is 3-14 days with ...
Source: PediatricEducation.org - July 29, 2019 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news
What Are Common Presentations for Budd-Chairi in Adolescents?
Discussion Budd-Chiari syndrome (BCS) is a rare liver disease caused by hepatic venous outflow obstruction (HVOTO). The obstruction can be anywhere from the small intrahepatic veins up to the inferior vena cava junction with the right atrium. The liver parenchyma itself is not directly affected but becomes compromised because of the increased hepatic sinusoidal pressure over time. The causes include: prothrombic events (35% of cases such as Protein C or Protein S deficiency, Factor V Leiden or antithrombin deficiency), myeloproliferative conditions, oral contraceptive use, and local factors. BCS can occur in any age but i...
Source: PediatricEducation.org - July 8, 2019 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news
What Does the Liver Do?
Discussion The liver is one of the largest organs in the body, weighing just over 3 pounds in an adult. It is found in the upper right abdomen, under the right dome of the diaphragm. Grossly, it has asymmetric lobes with the right being larger than the left. The lobes are separated by a fibrous connective tissue band that also anchors the liver in the abdominal cavity. The gallbladder is located on the inferior surface of the liver and stores bile, which is then released into the duodenum. Microscopically, the liver cells are arranged in lobules with canals carrying blood vessels and bile ducts. At any moment about 10-13% ...
Source: PediatricEducation.org - April 1, 2019 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news
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