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A Prospective Study Of Etiology Of Childhood Acute Bacterial Meningitis, Turkey
(2008)
Vaccines to prevent bacterial meningitis in this region must provide reliable protection against serogroup W-135., Determination of the etiology of bacterial meningitis and estimating cost of disease are important in guiding ...
A Primary Immunodeficiency Characterized By Defective Immunoglobulin Class Switch Recombination And Impaired Dna Repair
(2007)
Immunoglobulin class switch recombination (CSR) deficiencies are rare primary immunodeficiencies, characterized by a lack of switched isotype (IgG, IgA, or IgE) production, variably associated with abnormal somatic ...
Nonradioactive Vitamin B-12 Absorption Test Evaluated In Controls And In Patients With Inherited Malabsorption Of Vitamin B-12
(Amer Assoc Clinical Chemistry, 2005)
Background: Current tests for evaluation of vitamin B-12 absorption are problematic because they involve the use of radioactively labeled vitamin B-12. We describe a vitamin B-12 absorption test that circumvents this ...
Nonimmune Hydrops Fetalis In Two Cases Of Consanguineous Parents And Associated With Hereditary Spherocytosis And Hemophagocytic Hystiocytosis
(Nature Publishing Group, 2007)
Nonimmune hydrops fetalis may occur as a result of different etiological conditions and in about one-third of cases no cause could be identified. Here, we report two cases of nonimmune hydrops fetalis associated with ...
Patients with Mutations in Nphs2 (Podocin) Do not Respond To Standard Steroid Treatment of Nephrotic Syndrome
(Amer Soc Nephrology, 2004)
Nephrotic syndrome (NS) represents the association of proteinuria, hypoalbuminemia, edema, and hyperlipidemia. Steroid-resistant NS (SRNS) is defined by primary resistance to standard steroid therapy. It remains one of the ...
Refining Genotype - Phenotype Correlations in Muscular Dystrophies with Defective Glycosylation of Dystroglycan
(Oxford Univ Press, 2007)
Muscular dystrophies with reduced glycosylation of alpha-dystroglycan (alpha-DG), commonly referred to as dystroglycanopathies, are a heterogeneous group of autosomal recessive conditions which include a wide spectrum of ...
Recurrent Salmonella Bacteremia in Interleukin-12 Receptor Beta 1 Deficiency
(Oxford Univ Press, 2006)
Interleukin-12 receptor beta 1 (IL12RB1) deficiency causes vulnerability to poorly virulent mycobacteria and nontyphoid Salmonella species. We describe a 2.5 year-old girl with IL12RB1 deficiency, caused by a homozygous; ...
Spectrum And Clinical Implications Of Syntaxin 11 Gene Mutations In Familial Haemophagocytic Lymphohistiocytosis: Association With Disease-Free Remissions And Haematopoietic Malignancies
(Bmj Publishing Group, 2006)
Objective: To determine the frequency and spectrum of mutations in the gene encoding syntaxin 11 (STX11) in familial haemophagocytic lymphohistiocytosis (FHL), a rare autosomal recessive disorder of immune dysregulation ...
Specific Podocin Mutations Correlate With Age Of Onset In Steroid-Resistant Nephrotic Syndrome
(Amer Soc Nephrology, 2008)
Mutations in the gene encoding podocin (NPHS2) cause autosomal recessive steroid-resistant nephrotic syndrome (SRNS). For addressing the possibility of a genotype-phenotype correlation between podocin mutations and age of ...