Vitamin B12 Deficiency in Infancy: The Case for Screening

The classic principles put forth by Wilson and Jungner are often applied to determine the suitability of a condition for universal newborn screening. The three cases described here portray the harmful effects of vitamin B₁₂ deficiency in infancy. The challenges and opportunities of early recognition and treatment are highlighted. Screening newborns would allow early detection and prevention of severe neurological damage in vitamin B₁₂‐deficient infants and enable diagnosis of unrecognized maternal pernicious anemia in asymptomatic mothers. However, lack of standardized methodology and screening cutoffs present challenges to the use of current tandem mass spectrometry technologies for screening.     

Primary Effusion Lymphoma (PEL)‐Like Lymphoma in a Child With Congenital Immunodeficiency

Primary effusion lymphoma (PEL) is a rare lymphoma that occurs more frequently in immunocompromised adults and has a poor survival. We report a 9‐year‐old female with combined immunodeficiency with an Epstein–Barr virus positive/human herpes virus 8 negative PEL‐like lymphoma. The treatment with systemic chemotherapy for non‐Hodgkin lymphoma, zidovudine, and interferon‐α failed to control disease progression. This is the first reported pediatric case of PEL‐like lymphoma. Increased diagnostic awareness and more effective treatment strategies are needed for this rare lymphoma.     

Fructose and the Metabolic Syndrome: Pathophysiology and Molecular Mechanisms

Emerging evidence suggests that increased dietary consumption of fructose in Western society may be a potentially important factor in the growing rates of obesity and the metabolic syndrome. This review will discuss fructose-induced perturbations in cell signaling and inflammatory cascades in insulin-sensitive tissues. In particular, the roles of cellular signaling molecules including nuclear factor kappa B (NFkB), tumor necrosis factor alpha (TNF-α), c-Jun amino terminal kinase 1 (JNK-1), protein tyrosine phospha-tase 1B (PTP-1B), phosphatase and tensin homolog deleted on chromosome ten (PTEN), liver X receptor (LXR), farnesoid X receptor (FXR), and sterol regulatory element-binding protein-1c (SREBP-1c) will be addressed. Considering the prevalence and seriousness of the metabolic syndrome, further research on the underlying molecular mechanisms and preventative and curative strategies is warranted