Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019270 (hernia)
 15,856 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

PURPOSE. Neurofibromatosis type 2 (NF2) is an autosomal-dominant CNS tumor syndrome that affects 1:25,000 children and young adults. More than 50% of NF2 patients also develop posterior subcapsular cataracts (PSCs). The authors deleted Nf2 from the lens to determine its role in fiber cell differentiation. METHODS. Nf2 was conditionally deleted from murine lenses using the LeCre transgene. Standard histology and immunohistochemical and immunofluorescent methods were used to analyze lens morphology and markers of cell cycle progression, differentiation, and cell junctions in wild-type and knockout lenses from embryonic day 10.5 through postnatal day 3. RESULTS. Fiber cells lacking Nf2 did not fully exit the cell cycle and continued to express epithelial cell markers, such as FoxE3 and E-cadherin, despite expressing the fiber cell marker Prox1. Many fiber cells lost their elongated morphology. Markers of apical-basal polarity, such as ZO-1, were mislocalized along the lateral and basal membranes of fiber cells. The lens vesicle failed to separate from the surface ectoderm, and prospective lens and corneal epithelial cells formed a multilayered mass of cells at the surface of the eye. Herniation of this membrane caused the fiber mass to erupt through the cornea. CONCLUSIONS. Nf2 is required for complete fiber cell terminal differentiation, maintenance of cell polarity, and separation of lens vesicle from corneal epithelium. Defects identified in fiber cell differentiation may explain the formation of PSCs in patients with NF2. The lens provides an assay system to identify pathways critical for fiber cell differentiation and to test therapies for the tumors that occur in patients with NF2.
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PMID:The tumor suppressor merlin is required for cell cycle exit, terminal differentiation, and cell polarity in the developing murine lens. 2018 38

Schwannoma is a benign nerve sheath tumor composed of Schwann cells. A solitary schwannoma in the thorax is not rare, but a patient with Neurofibromatosis type 2 (NF2) and multiple thoracic schwannomas is extremely rare. We report the case of a 27-year-old woman with NF2 and two large schwannomas in her mediastinum and chest wall. We performed thoracic surgery on the patient, but she developed a cerebral hernia immediately after the operation. We report this case in order to analyze the relationship between the operation and cerebral hernia and find a way to prevent this consequence in the future. We conclude that a cranial MRI must be performed for patients with multiple thoracic schwannomas before the surgery. If there is a tumor inside the cranium, the disease in the brain must be treated first to prevent the occurrence of cerebral hernia or hemorrhage.
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PMID:Cerebral hernia caused by a thoracic surgery for multiple schwannomas in a patient with Neurofibromatosis type 2. 2354 12