Kernicterus by glucose-6-phosphate dehydrogenase deficiency: a case report and review of the literature

<p>Abstract</p> <p>Introduction</p> <p>Glucose-6-phosphate dehydrogenase deficiency is an X-linked recessive disease that causes acute or chronic hemolytic anemia and potentially leads to severe jaundice in response to oxidative agents. This deficiency is the most common human innate error of metabolism, affecting more than 400 million people worldwide.</p> <p>Case presentation</p> <p>Here, we present the first documented case of kernicterus in Panama, in a glucose-6-phosphate dehydrogenase-deficient newborn clothed in naphthalene-impregnated garments, resulting in reduced psychomotor development, neurosensory hypoacousia, absence of speech and poor reflex of the pupil to light.</p> <p>Conclusion</p> <p>Mutational analysis revealed the glucose-6-phosphate dehydrogenase Mediterranean polymorphic variant, which explained the development of kernicterus after exposition of naphthalene. As the use of naphthalene in stored clothes is a common practice, glucose-6-phosphate dehydrogenase testing in neonatal screening could prevent severe clinical consequences.</p

Th17 cells in autoimmune and infectious diseases

The view of CD4 T-cell-mediated immunity as a balance between distinct lineages of Th1 and Th2 cells has changed dramatically. Identification of the IL-17 family of cytokines and of the fact that IL-23 mediates the expansion of IL-17-producing T cells uncovered a new subset of Th cells designated Th17 cells, which have emerged as a third independent T-cell subset that may play an essential role in protection against certain extracellular pathogens. Moreover, Th17 cells have been extensively analyzed because of their strong association with inflammatory disorders and autoimmune diseases. Also, they appear to be critical for controlling these disorders. Similar to Th1 and Th2 cells, Th17 cells require specific cytokines and transcription factors for their differentiation. Th17 cells have been characterized as one of the major pathogenic Th cell populations underlying the development of many autoimmune diseases, and they are enhanced and stabilized by IL-23. The characteristics of Th17 cells, cytokines, and their sources, as well as their role in infectious and autoimmune diseases, are discussed in this review

Kernicterus by glucose-6-phosphate dehydrogenase deficiency: a case report and review of the literature-1

Terozygous control; lane 3, non-template control. M, 25 bp molecular marker.<p><b>Copyright information:</b></p><p>Taken from "Kernicterus by glucose-6-phosphate dehydrogenase deficiency: a case report and review of the literature"</p><p>http://www.jmedicalcasereports.com/content/2/1/146</p><p>Journal of Medical Case Reports 2008;2():146-146.</p><p>Published online 6 May 2008</p><p>PMCID:PMC2391151.</p><p></p

Kernicterus by glucose-6-phosphate dehydrogenase deficiency: a case report and review of the literature-0

<p><b>Copyright information:</b></p><p>Taken from "Kernicterus by glucose-6-phosphate dehydrogenase deficiency: a case report and review of the literature"</p><p>http://www.jmedicalcasereports.com/content/2/1/146</p><p>Journal of Medical Case Reports 2008;2():146-146.</p><p>Published online 6 May 2008</p><p>PMCID:PMC2391151.</p><p></p