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1.
S Ben Becher J el Mabrouk A Debbiche A Hammou N Ghram S Makni T Boudhina 《Archives fran?aises de pédiatrie》1992,49(9):799-802
BACKGROUND. Schwartz-Jampel syndrome is a rare disorder inherited as an autosomal recessive trait and characterized by growth retardation, multiple skeletal abnormalities, myotonia-like muscle disorders and unusual facies. CASE REPORTS. Case n. 1: A boy, aged 3 years 4 months, was admitted for acute respiratory disease. His main abnormalities included rigid facial expression, blepharophimosis, puckered lips, short neck, pectus carinatum, acetabular dysplasia with coxa vara, platyspondyly and marked growth retardation. There was a continuous muscle fiber activity at rest, with abnormal discharges originating in the muscle component of the neuromuscular junction. Blood investigations revealed low values of IgA. The child died at 4 years. Case n. 2: The sister of case n. 1 was examined at 14 months of age. She presented milder facies abnormalities, difficulties of gait because of stiff hips, muscular hypertrophy, coxa vara and growth retardation. X-rays showed skeletal abnormalities and the electromyogram was similar to those of her brother. She had dislocation of her optic lens. CONCLUSION. These 2 sibs have the characteristic manifestations of Schwartz-Jampel syndrome. Parental consanguinity was also present. The IgA deficiency observed in case n. 1 and the lens dislocation in case n. 2 have both been occasionally reported in this syndrome. 相似文献
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Foetal anomalies of the digestive tract are numerous and dominated by malformations, the prognosis of which may be severe. Antenatal diagnosis of these anomalies allows a better management of neonates. It is known since about 20 years, a major development because of the progress realized in the field of foetal imaging. Ultrasonography, which is the best imaging modality, can be joined by MRI if necessary. The objective of this study is to evaluate the contribution of imaging in prenatal diagnosis of digestive anomalies, throughout a review of literature. 相似文献
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Contreras X Bennasser Y Chazal N Moreau M Leclerc C Tkaczuk J Bahraoui E 《Virology》2005,332(1):316-328
HIV-1 Tat protein, acting at the cell membrane, stimulates the production by human monocytes of TNF-α, a cytokine implicated in both HIV-1 replication and pathogenesis. Here, we analyze, in primary human monocytes, the mechanisms involved in Tat-stimulated calcium mobilization and its relationship with TNF-α production. We show that the Tat protein induces a calcium signal by mobilizing calcium from extracellular stores. This calcium signal is totally blocked when cells are stimulated in the presence of DHP receptor inhibitors such as nimodipine or calcicludine, thus suggesting the implication of this L-type calcium channel. By using RT-PCR amplification, Western blot with antibodies directed against the α1D subunit, binding assays with specific agonists or antagonists, and inhibition with specific antisense oligonucleotides, we show that DHP receptors are expressed and functional in primary human monocytes. Interestingly, we demonstrate that Tat-induced calcium mobilization is tightly linked to TNF-α production, thus indicating that Tat-induced mobilization and TNF-α production are entirely mediated by DHP receptors, as shown by their total inhibition by nimodipine, calcicludine, or anti-α1D antisense oligonucleotides. 相似文献
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Manish Gupta Adeyinka Aina Yamina Boukari Stephen Doughty Andrew Morris Nashiru Billa 《Pharmaceutical development and technology》2018,23(2):207-210
Poly(lactic-co-glycolic acid) (PLGA) is a well-studied biodegradable polymer used in drug delivery and other medical applications such as in tissue regeneration. It is often necessary to impart porosity within the scaffold (microparticles) in order to promote the growth of tissue during the regeneration process. Sodium chloride and ammonium bicarbonate have been extensively used as porogens in the generation of porous microstructure. In this study, we compared the effect of volumes (250?μl, 500?μl and 750?μl) of two porogens, sodium chloride (1.71 M) and ammonium bicarbonate (1.71 M), on the porosity of PLGA microparticles. 相似文献
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Kathryn Fitch Thomas Weisman Tyler Engel Adam Turpcu Helen Blumen Yamina Rajput Purav Dave 《American Health & Drug Benefits》2015,8(6):300-308