robin/vefjadrep

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Möbius sequence, Robin complex, and hypotonia: severe expression of brainstem disruption spectrum versus Carey-Fineman-Ziter syndrome.

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We report on nine unrelated children fitting a diagnosis of Carey-Fineman-Ziter syndrome (CFZS). All children presented with Möbius sequence, Pierre Robin complex (6/9) or micrognathia, and hypotonia. Some had primary hypoventilation, delayed development, and acral anomalies. The neuropathological

Insulin antiapoptotic signaling involves insulin activation of the nuclear factor kappaB-dependent survival genes encoding tumor necrosis factor receptor-associated factor 2 and manganese-superoxide dismutase.

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We recently showed that the antiapoptotic function of insulin requires nuclear factor kappaB (NF-kappaB) activation (Bertrand, F., Atfi, A., Cadoret, A., L'Allemain, G., Robin, H., Lascols, O., Capeau, J., and Cherqui, G. (1998) J. Biol. Chem. 273, 2931-2938). Here we sought to identify the

Necrotizing meningoencephalitis in a large mixed-breed dog.

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METHODS A 4-year-old 26-kg (57.2-lb) spayed female Staffordshire Bull Terrier mix was evaluated because of a 24-hour history of cluster seizures. RESULTS Neurologic examination revealed altered mentation and multifocal intracranial signs; MRI was performed. The MRI findings included multifocal,

A low-cost method of craniofacial distraction osteogenesis.

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OBJECTIVE Distraction osteogenesis is an effective treatment modality for the correction of craniofacial deformities. The cost of these devices is significant and may preclude routine use of these distractors in developing countries. Hence, distraction osteogenesis was performed using medical

[Morphologic findings and biologic behavior in the high grade glioma--a postmortem study of 22 cases].

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Morphologic features of the autopsied specimen of 22 cases with supratentorial gliomas treated by surgery, radiation and/or chemotherapy were analysed, and the characteristics of recurrence of gliomas were searched for. The cases consisted of anaplastic 12 astrocytoma and 10 glioblastoma. The

Histopatholological Findings in a Fatal Case of Rinkhals Envenomation: A New Forensic Pathology Finding?

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Although cobra envenomation continues to pose a threat to life and therefore constitutes a major cause of death in Africa, India, and Sri Lanka, the forensic pathology reports are not always histologically well documented or illustrated. The reports in the literature, although providing graphic

Measles virus antigen in macrophage/microglial cells and astrocytes of subacute sclerosing panencephalitis.

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In two patients with subacute sclerosing panencephalitis (SSPE) of 10 and 25 months duration we demonstrated by immunohistochemistry the presence of measles-virus nucleocapsid antigen (MVNA) in CD68+ cells and astrocytes of brain tissues. In both cases, CD68+ hematogenous monocyte/ macrophages and

Watershed infarcts in the fetal and neonatal brainstem. An aetiology of central hypoventilation, dysphagia, Möibius syndrome and micrognathia.

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Watershed zone infarcts of the human cerebral cortex at the overlapping junctions of the anterior and middle cerebral arterial territories are well known. Another watershed zone exists in the brainstem tegmentum, between the terminal perfusion zones of the paramedian penetrating and long

[Juvenile paradental cysts in children after mandible distraction: case-control study and clinical cases presentation].

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Seventy-five children aged 6-17 years (mean age 9.8±4.1 years) that received mandible distraction (MD) at the age of 0-17 years (mean age at MD 6.1±4.3) were included in the study. Indication for MD were hemifacial microsomia (n=41), Goldenhar syndrome (n=4), Robin sequence (n=10), Treacher, Collins

[Case of disseminated necrotizing leukoencephalopathy following intrathecal methotrexate in acute lymphocytic leukemia].

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Disseminated necrotizing leukoencephalopathy was found upon autopsy of a 32-year-old man with acute lymphocytic leukemia. He had been treated with intrathecal methotrexate for CNS involvement; no radiation therapy had been given. Autopsy findings revealed that in the white matter of the temporal

Enzyme therapy in Gaucher disease type 2: an autopsy case.

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A Japanese patient with Gaucher disease type 2 was treated with enzyme therapy, alglucerase, from 7 to 22 months of age. Whereas hematologic parameters were normalized and hepatosplenomegaly was alleviated, no improvement in neurologic symptoms occurred, and the patient died of respiratory failure

Oligodendroglioma showing pleomorphic xanthoastrocytoma-like perivascular microlesion: With IDH1, TERT promoter mutation and 1p/19q codeletion detected in both components.

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We report a histological and genetic study of concurrent oligodendroglioma and a microscopic pleomorphic xanthoastrocytoma (PXA)-like lesion in a 48-year-old male. He presented with generalized seizure, and magnetic resonance imaging revealed a nonenhanced left frontal lobe mass suggesting low-grade

Zinc and lead poisoning in wild birds in the tri-state mining district (Oklahoma, Kansas, and Missouri).

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The Tri-State Mining District (Oklahoma, Kansas, and Missouri) is contaminated with Pb, Cd, and Zn from mining, milling and smelting. Metals have been dispersed heterogeneously throughout the District in the form of milled mine waste ("chat"), as flotation tailings and from smelters as aerial

First Report of Root Rot of Pedunculate Oak and Other Forest Tree Species Caused by Phytophthora plurivora in the Czech Republic.

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From 2006 to 2008, several similar Phytophthora isolates were obtained from roots of mature Quercus robur and other tree species (Acer platanoides, Fraxinus excelsior, Q. rubra, and Tilia cordata) in forests and parks in several areas in the Czech Republic. The trees were characterized by chlorotic

1,3,5-Trinitrobenzene-induced encephalopathy in male Fischer-344 rats.

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Administration of 1,3,5-trinitrobenzene (TNB) to male Fischer-344 rats produced ataxia after 6 or 7 oral doses (71 mg/kg). Light microscopic examination after 10 days revealed petechial hemorrhages in the brain stem and cerebellum and bilaterally symmetric degeneration and necrosis (malacia) with

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