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001-es BibID:	BIBFORM061593
Első szerző:	Hamrahian, S. Mehrdad (orvos)
Cím:	Symmetrical craniofacial hypertrophy in patients with tertiary hyperparathyroidism and high-dose cinacalcet exposure / Hamrahian, S. Mehrdad, Pitman, Karen T., Csongrádi Éva, Bain, Justin H., Kanyicska Béla, Fülöp Tibor
Dátum:	2012
ISSN:	1492-7535
Megjegyzések:	We are reporting on a series of two patients with end-stage renal disease on hemodialysis,presented for surgical parathyroidectomy secondary refractory hyperparathyroidism. Both patientshad failed maximized medical managements, including higher-than-usual doses of the calcimimeticcinacalcet (270 and 180 mg/day, respectively). On physical exam, both patients had markedsymmetrical craniofacial hypertrophy with coarse distortion of facial features, similar in appearanceto past reports of Sagliker syndrome. On X-ray and computed tomographic exam, they had peculiarareas of bone absorption on the skull, imitating the radiologic appearance of multiple myeloma.Bone biopsy of the maxilla, however, did not show the expected brown tumor, but rather describedonly fibrosis and reactive bone formations. This phenotype developed while being on cinacalcet,progressed despite escalation of therapy, and improved only after parathyroidectomy. Both patientsdeveloped massive "hungry bone syndrome" after parathyroidectomy necessitating prolonged IVcalcium infusion. This pattern of severe facial distortion likely represented an adverse consequenceof severe tertiary hyperparathyroidism, along with supraphysiologic dose of cinacalcet administrationand 25-hydroxy vitamin D deficiency in sensitive individuals. The genetic base of this observationremained unexplained.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:	Hemodialysis International 16 : 4 (2012), p. 571-576. -
További szerzők:	Pitman, Karen T. (orvos) Csongrádi Éva (1969-) (szakorvos) Bain, Justin H. (orvos) Kanyicska Béla (tudományos segédmunkatárs) Fülöp Tibor (1957-) (kardiológus)
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001-es BibID:	BIBFORM105961
035-os BibID:	(WOS)000296440100011 (Scopus)80054897628
Első szerző:	Zsom Marianna
Cím:	Genetic polymorphisms and the risk of progressive renal failure in elderly Hungarian patients / Marianna Zsom, Tibor Fülöp, Lajos Zsom, Ákos Baráth, Zoltán Maróti, Emőke Endreffy
Dátum:	2011
ISSN:	1492-7535 1542-4758
Megjegyzések:	The relationship between renal disease progression and genetic polymorphism of enzymes influencing endothelial function remains incompletely understood. We genotyped three cohorts of elderly Hungarian patients: 245 patients with end-stage renal disease (ESRD) on chronic hemodialysis (HD), 88 patients with mild chronic kidney disease (CKD), and 200 healthy controls. The underlying diagnoses of renal diseases were primary glomerulonephritis, interstitial nephritis, hypertension, diabetic nephropathy, and hereditary diseases. We examined genetic polymorphisms of eight candidate genes associated with endothelial function: endothelial constitutive nitric oxide synthase (ecNOS) T-786C, endothelin-1 G5727T, methylenetetrahydrofolate reductase (MTHFR) C677T, paraoxonase-1 Q192R and M55L, angiotensinogen M235T, angiotensin-converting enzyme (ACE) I/D and angiotensin II type 1 receptor A1166C gene. Six gene polymorphisms were detected by real-time polymerase chain reaction with melting-point analysis, and two via allele-specific amplification and gel electrophoresis. Control group patients were in Hardy-Weinberg equilibrium for all tested genotypes. In ESRD patients attributed to hypertension, the endothelin gene G5727T GG genotype occurred significantly less but GT genotype more frequently (P < 0.01 for both). In ESRD patients attributed to primary glomerulonephritis, more ACE DD and less ID genotypes were found (P < 0.02 for both) than in the controls. The underlying diagnosis may modify the association of genetic polymorphism and dialysis-dependent ESRD.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban folyóiratcikk Chronic kidney disease end-stage renal disease endothelin endothelium genetic polymorphisms
Megjelenés:	Hemodialysis International. - 15 : 4 (2011), p. 501-508. -
További szerzők:	Fülöp Tibor (1966-) (nefrológus) Zsom Lajos (1968-) (belgyógyász, nefrológus) Baráth Ákos Maróti Zoltán (gyermekgyógyász, Szeged) Endreffy Emőke
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