osteochondrodysplasias/diarré

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Skeletal dysplasia, occipital horns, diarrhea and obstructive uropathy- a new hereditary syndrome.

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Delayed gastric emptying and chronic diarrhea in a patient with oculodentodigital dysplasia syndrome.

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A patient with oculodentodigital dysplasia (ODDD) syndrome was evaluated because of complaints of intermittent diarrhea of many years duration. Gastrointestinal manifestations have not been routinely described in patients with ODDD, which is a hereditary disorder characterized by abnormal eye

Decreased immune response and increased incidence of tibial dyschondroplasia caused by fusaria grown on sterile corn.

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Corn, feed, and litter samples reported to be associated with feed refusal, diarrhea, leg weakness, and mortality were evaluated for the presence of toxic substances. Intubated residues of ethyl acetate extracts of these samples did not cause gross lesions, diarrhea, or mortality in young New

Autoimmune hypoparathyroidism in a 12-year-old girl with McKusick cartilage hair hypoplasia.

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McKusick type metaphyseal chondrodysplasia, or cartilage hair hypoplasia (CHH), is a rare autosomal recessive osteochondrodysplasia secondary to a mutation in the RMRP gene. In addition to the metaphyseal chondrodysplasia and the short-limb dwarfism, patients may present with a multisystemic

Impacts of Duck-Origin Parvovirus Infection on Cherry Valley Ducklings From the Perspective of Gut Microbiota.

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Duck-origin goose parvovirus (D-GPV) is the causative agent of beak atrophy and dwarfism syndrome (BADS), characterized by growth retardation, skeletal dysplasia, and persistent diarrhea. However, the pathogenic mechanism of D-GPV remains undefined. Here, we first reported the gut microbiome

The etiology of osteosarcoma.

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Studies to determine the etiology of osteosarcoma involve epidemiologic and environmental factors and genetic impairments. Factors related to patient characteristics include age, gender, ethnicity, growth and height, genetic and familial factors, and preexisting bone abnormalities. Rapidly

Lysinuric Protein Intolerance Presenting with Multiple Fractures.

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Lysinuric protein intolerance (LPI) is a rare autosomal recessive inborn error of metabolism caused by mutations in SLC7A7, which encodes a component of the dibasic amino acid transporter found in intestinal and renal tubular cells. Patients typically present with vomiting, diarrhea, irritability,

Pathogenetics of the human SLC26 transporters.

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Over the past decade, 11 human genes belonging to the solute linked carrier (SLC) 26 family of transporters, have been identified. The SLC26 proteins, which include SAT-1, DTDST, DRA/CLD, pendrin, prestin, PAT-1/CFEX and Tat-1, are structurally related and have been shown to transport one or more of

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