osteopetrosis/febră

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In this issue - October 2016: Horse transportation in Australia · Osteopetrosis in a neonatal donkey · Bovine ephemeral fever virus-infected downer cattle · Antimicrobial resistance in Escherichia coli in finisher pigs · Stabilisation of periarticular fractures using a notched head locking T-plate · Measuring blood coagulation in Bennett's wallabies · Vaccine against Salmonella Typhimurium in laying hens.

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A Homozygous Mutation in 5' Untranslated Region of TNFRSF11A Leading to Molecular Diagnosis of Osteopetrosis Coinheritance With Wiskott-Aldrich Syndrome.

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Wiskott-Aldrich syndrome (WAS) and osteopetrosis are 2 different, rare hereditary diseases. Here we report clinical and molecular genetics investigations on an infant patient with persistent thrombocytopenia and prolonged fever. He was clinical diagnosed as osteopetrosis according to clinical

Malignant Infantile Osteopetrosis: A Case Report.

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Osteopetrosis is a rare genetic disease of bone resorption. It includes a variety of hereditary skeletal disorders that have the main radiographic feature of increased bone density and thickness due to differentiation or functional defects in osteoclast. The clinical presentation varies widely based

Osteopetrosis in two siblings: two case reports.

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BACKGROUND Osteopetrosis is a rare inherited metabolic bone disorder characterized by extensive sclerosis of skeletons, visual and hearing impairment, hepatosplenomegaly and anemia. It has two major clinical forms: the autosomal dominant adult (benign) form is associated with milder symptoms often

Osteopetrosis: pathogenesis and rationale for the use of interferon-γ-1b.

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Congenital osteopetrosis is a group of disorders resulting in decreased osteoclastic function and hence decreased bone resorption. Various medical treatments have been attempted to ameliorate the osteopetrotic condition. A calcium-deficient diet has limited further sclerosis in some patients.

Novel mutation of TCIRG1 and clinical pictures of two infantile malignant osteopetrosis patients.

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Infantile malignant osteopetrosis (IMO) (OMIM 259700) is a lethal autosomal recessive disease. The underlying gene in most IMO patients is TCIRG1. This codes for the TCIRG1 protein involved in the cellular proton pump, which is highly expressed on surfaces of osteoclasts. We have characterized a

Prevention of graft failure by an anti-HLFA-1 monoclonal antibody in HLA-mismatched bone-marrow transplantation.

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Seven patients with immunodeficiencies (Wiskott-Aldrich syndrome, combined immunodeficiency, and osteopetrosis) were given a mouse monoclonal antibody against the alpha subunit of human leucocyte functional antigen (HLFA-1; CD18) to facilitate the engraftment of mismatched haploidentical

Role of nasal endoscopy in chronic osteomyelitis of maxilla and zygoma: a case report.

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Osteomyelitis of the jaws was relatively common before the era of antibiotic therapy and preventive and restorative dentistry. Osteomyelitis is an acute or chronic inflammatory process that can involve cortical and trabecular aspects of bone or bone marrow. Cranial bones are infrequently involved,

Copy number variation in the genomes of domestic animals.

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Copy number variation (CNV) might be one of the main contributors to phenotypic diversity and evolutionary adaptation in animals and plants, employing a wide variety of mechanisms, such as gene dosage and transcript structure alterations, to modulate organismal plasticity. In the past 4 years,

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