Pediatric Hypovitaminosis D: Molecular Perspectives and Clinical Implications.

Vitamin D, a secosteroid, is essential for the development and maintenance of healthy bone in both the adult and pediatric populations. Low level of 25-hydroxy vitamin D (25-(OH)-D) is highly prevalent in children worldwide and has been linked to various adverse health outcomes including rickets, osteomalacia, osteomalacic myopathy, sarcopenia, and weakness, growth retardation, hypocalcemia, seizure and tetany, autism, cardiovascular diseases, diabetes mellitus, cancers (prostate, colon, breast), infectious diseases (viral, tuberculosis), and autoimmune diseases, such as multiple sclerosis and Hashimoto's thyroiditis. Risk factors for hypovitaminosis D are people with darker skin pigmentation, use of sunscreen, insufficient ultraviolet B exposure, prematurity, living in northern latitudes, malnutrition, obesity, exclusive breastfeeding, low maternal vitamin D level, certain medications, drinking unfortified cow's milk, liver failure, chronic renal insufficiency, cystic fibrosis, asthma, and sickle cell hemoglobinopathy. This review highlights and summarizes the molecular perspectives of vitamin D deficiency and its potential adverse health outcomes in pediatric age groups. The recommended treatment regimen is beyond the scope of this review.

Gaucher disease. Unusual presentation and mini-review.

We aim to describe an 8-year-old boy with an unusual clinical presentation of Gaucher disease (GD). Gaucher disease is a progressive lysosomal storage disorder due to deficiency of the specific enzyme glucocerebrosidase with varying clinical features, but often involving the monocytes-macrophages systems. This child ran a progressive course with a devastating outcome. Three distinct GD subtypes have been described with varying clinical features based on the presence or absence of neurologic involvement. Gaucher disease diagnosis is obtained via: enzyme activity assay, gene mutation study, bone marrow aspiration in addition to multiple other tests that have been successfully used in diagnosis of cases of GD. Treatment modalities include enzyme replacement treatment, substrate reduction therapy, bone marrow transplantation, blood transfusion, and surgery are available management modalities for GD. Gaucher disease is a chronic disease requiring a multidisciplinary team approach with regular follow up with multiple subspecialties.

Hepatitis B awareness and knowledge in hepatitis B surface antigen-positive parturient immigrant women from West Africa in the Bronx, New York.

An increasing proportion of foreign-born residents in the Bronx, New York are African immigrants from West Africa, a region with a very high hepatitis B surface antigen (HBsAg) prevalence. Charts of 114 HBsAg positive parturients who gave birth between 2004 and 2008 in a community hospital in the Bronx were retrospectively reviewed. Most were of West-African origin (88%). Acute hepatic inflammation was rare (4%). Active viral replication (Hepatitis B e-antigen positivity) was noted in a minority (7%), but in 3/5 (60%) HIV co-infected women. Among the West-African immigrant women who agreed to be interviewed (n = 39), only half (54%) had ever heard of hepatitis B virus (HBV) infection, and their knowledge of HBV was mostly incomplete. This study shows that pregnancy-related health interventions may offer unique opportunities to link such women to specialist care and initiate culturally sensitive HBV-relevant education for the index case and her family.