20087 Background: Nijmegen breakage syndrome (NBS) caused by mutation [657del(5)] in exon 6 of NBS-1 is an autosomal recessive disorder with microcephaly, immunodeficiency, radiosensitivity, and predisposition to lymphoid malignancies. Recently, high frequency of NBS-1 mutation was found in some Slavic populations. Because NBS-1 heterozygotes may have high incidence of neoplastic changes, there...

OBJECTIVE To assess the attitude and knowledge of the Saudi mothers toward newborn screening (NBS) program. METHODS A total of 425 Saudi women (only mothers who have at least one pregnancy) participated in the study from different regions in Saudi Arabia and completed the structured questionnaire which sought their views on the NBS services. RESULTS A majority of the participating women (91...

background to current knowledge, different oocyte's recovery method and various seasons have profound impact on in vitro embryo production (ivep). objectives the aim of this study was to define an efficient recovery method for oocytes harvesting from slaughterhouse material in different seasons, and their effects on ivep yield. materials and methods ovaries from slaughtered ewes in breeding sea...

ABSTRACT To investigate disease resistance gene analogs (RGAs) encoding coiled-coil-nucelotide-binding site-leucine-rich repeats (CC-NBS-LRR) proteins in western white pine, degenerate primers targeting the conserved motifs in the NBS domain were designed to amplify RGAs from genomic DNA and cDNA. Sixty-one distinct RGAs were identified with identities to well-known R proteins of the CC-NBS-LRR...

Pax6 is known as a neurogenic factor in the development of the central nervous system and regulates proliferation of neuronal progenitor cells and promotes neuronal differentiation. In addition to neurogenesis, Pax6 is also involved in the specification and maturation of glial cells. Here, we show that Eyeless (Ey), Drosophila homolog of Pax6, regulates the production of glial cells in the brai...

Started in 1963 by Robert Guthrie, newborn screening (NBS) is considered to be one of the great public health achievements. Its original goal was to screen newborns for conditions that could benefit from presymptomatic treatment, thereby reducing associated morbidity and mortality. With advances in technology, the number of disorders included in NBS programs increased. Pompe disease is a good c...

State newborn screening (NBS) programs routinely screen nearly all of the 4 million newborns in the United States each year for ∼30 primary conditions and a number of secondary conditions. NBS could be on the cusp of an unprecedented expansion as a result of advances in whole-genome sequencing (WGS). As WGS becomes cheaper and easier and as our knowledge and understanding of human genetics expa...

Neural stem cells (NSCs) are able to self-renew while giving rise to neurons and glia that comprise a functional nervous system. However, how NSC self-renewal is maintained is not well understood. Using the Drosophila larval NSCs called neuroblasts (NBs) as a model, we demonstrate that the Hairy and Enhancer-of-Split (Hes) family protein Deadpan (Dpn) plays important roles in NB self-renewal an...

Few fiber supplements have been studied for physiological effectiveness. The effects of native banana starch (NBS) and soy milk (control) on body weight and insulin sensitivity in obese type 2 diabetics were compared using a blind within-subject crossover design. Subjects undertook two phases of 4-week supplementation either with NBS or soy milk. Patients on NBS lost more body weight than when ...

BACKGROUND Early detection of cystic fibrosis (CF) by newborn screening (NBS) reduces the rate of avoidable complications. NBS protocols vary by jurisdiction and the cost effectiveness of these different protocols is debated. OBJECTIVE To compare the cost effectiveness of various CF NBS options. METHODS A Markov model was built to simulate the cost effectiveness of various CF-NBS options fo...