14 research outputs found
Localized early mesenteric Castleman's disease presenting as recurrent intestinal obstruction: a case report
Primary neoplasms of the mesentery are very rare. They are usually of mesenchymal origin and include desmoid tumor, lipoma, liposarcoma, and fibrosarcoma. Metastatic carcinomas and lymphoma are more common. We report a rare case of localized mesenteric Castleman's disease, presenting as intestinal obstruction. Clinical and radiological findings were suspicious for lymphoma. Localized mesenteric Castleman's disease, though rare, has to be considered in the differential diagnosis of mesenteric tumors, particularly in the young and in the absence of history for other tumor, an abnormal blood picture, or splenomegaly
Localized early mesenteric Castleman's disease presenting as recurrent intestinal obstruction: a case report
Abstract Primary neoplasms of the mesentery are very rare. They are usually of mesenchymal origin and include desmoid tumor, lipoma, liposarcoma, and fibrosarcoma. Metastatic carcinomas and lymphoma are more common. We report a rare case of localized mesenteric Castleman's disease, presenting as intestinal obstruction. Clinical and radiological findings were suspicious for lymphoma. Localized mesenteric Castleman's disease, though rare, has to be considered in the differential diagnosis of mesenteric tumors, particularly in the young and in the absence of history for other tumor, an abnormal blood picture, or splenomegaly.</p
Identification of new genes in the plant response to nitrogen starvation or nitrogen supply
International audienc
The use of mutagenesis and genetic engineering to study nitrate metabolism in Nicotiana
International audienc
Structure and regulation of nitrate reductase in Solanaceous species
International audienc
The use of mutagenesis and genetic engineering to study nitrate metabolism in Nicotiana
International audienc
CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis
Defects in primary or motile cilia result in a variety of human pathologies, and retinal degeneration is frequently associated with these so-called ciliopathies. We found that homozygosity for a truncating variant in CEP162, a centrosome and microtubule-associated protein required for transition zone assembly during ciliogenesis and neuronal differentiation in the retina, caused late-onset retinitis pigmentosa in 2 unrelated families. The mutant CEP162-E646R*5 protein was expressed and properly localized to the mitotic spindle, but it was missing from the basal body in primary and photoreceptor cilia. This impaired recruitment of transition zone components to the basal body and corresponded to complete loss of CEP162 function at the ciliary compartment, reflected by delayed formation of dysmorphic cilia. In contrast, shRNA knockdown of Cep162 in the developing mouse retina increased cell death, which was rescued by expression of CEP162-E646R*5, indicating that the mutant retains its role for retinal neurogenesis. Human retinal degeneration thus resulted from specific loss of the ciliary function of CEP162