J. I. Dı́az-Pizarro Graf

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BACKGROUND Hutchinson-Gilford progeria syndrome is a rare, sporadic, autosomal dominant syndrome that involves premature aging, generally leading to death at approximately 13 years of age due to myocardial infarction or stroke. The genetic basis of most cases of this syndrome is a change from glycine GGC to glycine GGT in codon 608 of the lamin A (LMNA)(More)
BACKGROUND & AIMS Autosomal recessive polycystic kidney disease (ARPKD), the most common ciliopathy of childhood, is characterized by congenital hepatic fibrosis and progressive cystic degeneration of kidneys. We aimed to describe congenital hepatic fibrosis in patients with ARPKD, confirmed by detection of mutations in PKHD1. METHODS Patients with ARPKD(More)
BACKGROUND AND OBJECTIVES Renal function and imaging findings have not been comprehensively and prospectively characterized in a broad age range of patients with molecularly confirmed autosomal recessive polycystic kidney disease (ARPKD). DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS Ninety potential ARPKD patients were examined at the National Institutes(More)
BACKGROUND & AIMS Children with Cushing syndrome present with growth delay and excess adiposity that tends to be generalized rather than centripetal. There are no prospective studies of this phenotype as it evolves before and after treatment in children. The aims of this study were to evaluate children prior to and one-year after surgical cure compared to(More)
Background: The placement of intraabdominal polypropylene mesh entails risks of adhesions and fistulas that can be avoided by preperitoneal placement. Methods: This comparative, open, experimental, prospective, randomized, and transversal study randomized pigs into two groups of 11 each for intraperitoneal (IPOM) or preperitoneal (TAPP) polypropylene mesh(More)
The m. flexor carpi radialis brevis is a very rarely observed muscle with various origins and insertions. Our investigation showed a muscle with its insertion into the base of the second and third metacarpal bone. The important role of this muscle in operations on the wrist-joint is discussed.
HISTORY AND ADMISSION FINDINGS A 55-year-old woman presented with sustained convulsions after the ingestion of an at first unknown amount of isoniazid, rifampin, ethambutol and alcohol. INVESTIGATION At admission the patient had a severe metabolic acidosis. Blood tests showed changes caused by the hepatotoxicity of isoniazid. TREATMENT AND COURSE(More)
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