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981.
Antonio Fea Andrea Grosso Marilena Rabbione Federico Grignolo 《Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie》2007,245(2):315-317
Background Optic disc anomalies are frequently associated with Alagille syndrome. We report here the first case of a patient with Alagille
syndrome combined with optic pit and serous macular detachment.
Methods A male patient with Alagille syndrome was referred from the pediatric hepatology department for investigation of visual loss
in the right eye. Anterior segment examination showed evidence of posterior embryotoxon, confirmed by gonioscopic evaluation.
Dilated fundus examination revealed serous macular detachment and optic pit.
Results OCT 3 scans confirmed the clinical findings.
Conclusions Optic pit is uncommon and should prompt a search for genetic disorders or development abnormalities. The association between
the two syndromes in this patient might be due to failure of correct neuroectodermal development, for which a common genetic
pathway is likely. 相似文献
982.
983.
Melinda Braskett MD Robert L. Roberts MD PhD 《Clinical Pediatric Emergency Medicine》2007,8(2):96-103
The potential for morbidity and mortality in patients who have PID with febrile and nonfebrile illness is extremely high. Familiarity with the clinical manifestations of PID and collaboration with a pediatric immunologist are prerequisites for optimal short-term care of these complex patients. Conservative management with empiric broad-spectrum antimicrobials, early and aggressive surgical debridement of abscesses, and admission at a tertiary pediatric care center are often indicated. 相似文献
984.
Select types of supporting cell in the inner ear express aquaporin-4 water channel protein 总被引:14,自引:0,他引:14
Yutaka Takumi Erlend Arnulf Nagelhus Jo Eidet Atsushi Matsubara Shin-ichi Usami Hideichi Shinkawa Søren Nielsen Ole Petter Ottersen 《The European journal of neuroscience》1998,10(12):3584-3595
Aquaporins (AQPs) confer a high water permeability on cell membranes and play important parts in secretory and absorptive epithelia in kidney and other organs. Here we investigate whether AQPs are expressed in the sensory epithelia of the inner ear, where a precise volume regulation is crucial. By use of specific antibodies it was found that the inner ear contains AQP1 and 4 while being devoid of detectable levels of AQP2, 3 or 5. Immunofluorescence and postembedding immunogold labelling revealed a strictly non-epithelial distribution of AQP1, confirming previous data. In contrast, AQP4 protein and mRNA (visualized by in situ hybridization) were concentrated in select types of supporting cell, including Hensen's cells and inner sulcus cells. Immunogold particles signalling AQP4 were confined to the basolateral plasma membrane of Hensen's cells and to the basal plasma membrane of Claudius cells and inner sulcus cells. AQP4 was also found in supporting cells of the vestibular end organs, but was absent from transitional epithelial cells and dark cells. Strong labelling for AQP4 and AQP4-mRNA was associated with the central part of the cochlear and vestibular nerves. Hair cells were consistently unlabelled. Our findings indicate that AQP4 may facilitate osmotically driven water fluxes in the sensory epithelia of the inner ear and thus contribute to the volume and ion homeostasis at these sites. 相似文献
985.
The calcium-binding protein calretinin is present in an intrinsic GABAergic and an extrinsic non-GABAergic system in the rat and monkey hippocampal formation. Important species differences have been noted in hippocampal cell types immunostained for calretinin and the termination pattern of calretinin containing hypothalamic afferents in the hippocampus. In the present study, calretinin-containing neurons were visualized using immunocytochemistry in the human hippocampal formation of individuals which showed no significant neuropathological alterations. Calretinin-immunoreactivity was present exclusively in non-granule cells of the dentate gyrus and in non-pyramidal cells of Ammon's horn. Calretinin-positive neurons were found most frequently in the hilus of the fascia dentata and in strate radiatum and lacunosum-moleculare of CA1, whereas neurons in CA2 and CA3 were rarely immunostained. The majority of calretinin-immunoreactive neurons were small, bipolar or fusiform neurons. The dendritic trees of the calretinin-positive neurons were, for the most part, parallel to the dendrites of the principal cells. In the hilus, however, we observed cells with dendrites restricted to the hilar area. These dendrites were parallel to the granule cell layer. In the stratum lacunosum-moleculare, neurons with dendrites oriented parallel to the hippocampal fissure were frequently detected. In general, dendrites were smooth or sparsely spiny, displaying small conventional spines. The axons usually emerged from the proximal dendrite and could be followed over long distances. Axons were thin, had small varicosities and displayed only few collaterals which branched relatively far away from the cell body. Distinct bands of darkly stained calretinin-positive fibers occupied the innermost portion of the dentate molecular layer and the pyramidal cell layer of CA2. This distribution of calretinin-immunoreactive structures in the human hippocampus is similar to that observed in other primates but differs from that described in lower mammals, i.e., the rat. Our findings suggest that primates may share a common hippocampal calrtinin-containing system, presumably both the intrinsic GABAergic and the extrinsic hypothalamic non-GABAergic components. © 1995 Wiley-Liss, Inc. 相似文献
986.
M. G. Bradbury M. Henderson J. T. Brocklebank H. A. Simmonds 《Pediatric nephrology (Berlin, Germany)》1995,9(4):476-477
A 9-month-old child with the skeletal abnormalities of Fuhrmann's syndrome presented with acute renal failure secondary to bilateral renal calculi. Hereditary xanthinuria was shown to be the underlying metabolic defect. Treatment with allopurinol was unsuccessful at reducing the xanthine excretion. 相似文献
987.
Early onset of autoimmunity in MRL/++ mice following immunization with beta 2 glycoprotein I.
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A L Aron M L Cuellar R L Brey S Mckeown L R Espinoza Y Shoenfeld A E Gharavi 《Clinical and experimental immunology》1995,101(1):78-81
Antiphospholipid antibodies (aPL) are associated with thrombosis, thrombocytopenia and recurrent fetal loss in humans and in some animal models. Immunization with beta 2 glycoprotein I (beta 2GPI) induced aPL production in normal rabbits and mice. However, the association of these antibodies with disease manifestations remains controversial. To determine whether induction of aPL by beta 2GPI immunization in an autoimmune strain of mice (MRL/++) would result in acceleration of clinical and serological autoimmune disease manifestations, three groups of 8-week-old female mice were studied. One group was immunized with beta 2GPI, and one with ovalbumin (OVA); the third was not immunized. After two booster injections, sera were analysed for the presence of anticardiolipin (aCL) and anti-DNA by ELISA and anti-nuclear antibody (ANA) by immunofluorescence. Mice were studied for thrombocytopenia, proteinuria, fecundity rates, litter sizes and the development of central nervous system dysfunction. Elevated levels of aCL, anti-DNA and ANA were detected in all beta 2GPI-immunized, in three OVA-immunized, and in none of the unimmunized mice. The anti-DNA antibodies were inhibited by CL micelles, suggesting cross-reactivity between aCL and anti-DNA. Platelet counts, fecundity rates and litter size were reduced in beta 2GPI-immunized but not in OVA-immunized or unimmunized mice. None of the mice developed neurological dysfunction or significant proteinuria over a 10-week period post-immunization. These findings suggest that beta 2GPI immunization induces aPL in MRL/++ mice associated with accelerated autoimmune manifestations resembling the antiphospholipid syndrome. 相似文献
988.
989.
We report herein the cases of two infants who developed right pneumonectomy syndrome, both of whom were born with gross C-type esophageal atresia (EA/TEF), and a hypoplastic right lung arising from the lower esophagus, being a bronchopulmonary foregut malformation (BPFM). Appropriate and well-timed treatments for a variety of sequelae primarily caused by the mediastinal shift must be considered after right pneumonectomy in early childhood. 相似文献
990.