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001-es BibID:	BIBFORM028228
Első szerző:	Szakszon Katalin (csecsemő- és gyermekgyógyász, klinikai genetikus)
Cím:	Endocrine and anatomical findings in a case of Solitary Median Maxillary Central Incisor Syndrome / Szakszon K., Felszeghy E., Csízy I., Józsa T., Káposzta R., Balogh E., Oláh E., Balogh I., Berényi E., Knegt A. C., Ilyés I.
Dátum:	2012
ISSN:	1769-7212
Megjegyzések:	Solitary Median Maxillary Central Incisor Syndrome (SMMCI) is a rare malformation syndrome consisting of multiple, mainly midline defects. Some authors suggest that it is a mild manifestation of the wide spectrum of holoprosencephaly, others classify it rather as a distinct entity. Authors report a case of SMMCI presenting with growth retardation, mild intellectual disability and absence of puberty. Cytogenetic and molecular cytogenetic investigations could identify no abnormalities. The presence of a single maxillary incisor called for further investigations to clarify hidden anomalies, these were empty sella, panhypopituitarism, hypothyroidism, and hypoplasia of the inner genitals. Based on the above findings, growth hormone, estrogen, and L-thyroxine substitution was introduced, which resulted in satisfactory longitudinal growth and onset of sexual maturation. We suggest genetic counselling and if needed, invasive investigations in female patients with short stature and absent/delayed puberty, with or without sex chromosomal anomalies, as the adequate therapy and even the quality of life of patient depends largely on the knowledge of their anatomical and endocrine status.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:	European Journal Of Medical Genetics. - 55 : 2 (2012), p. 109-111. -
További szerzők:	Felszeghy Enikő Noémi (1970-) (gyermekgyógyász) Csízy István (1948-) (gyermekgyógyász, gyermeksebész) Józsa Tamás (1969-) (gyermeksebész, urológus) Káposzta Rita (1968-) (csecsemő- és gyermekgyógyász) Balogh Erzsébet (1949-) (biológus, citogenetikus) Oláh Éva (1943-2019) (gyermekgyógyász, klinikai genetikus) Balogh István (1972-) (molekuláris biológus, genetikus) Berényi Ervin (1964-) (radiológus) Knegt, Alida C. Ilyés István (1943-) (gyermekgyógyász, gyermekendokrinológus, háziorvos)
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001-es BibID:	BIBFORM023528
Első szerző:	Szakszon Katalin (csecsemő- és gyermekgyógyász, klinikai genetikus)
Cím:	Early introduction of peritoneal dialysis may improve survival in severe sepsis / Szakszon K., Csízy I., Szabó T.
Dátum:	2009
ISSN:	0749-5161
Megjegyzések:	Acute renal failure is a serious complication of sepsis and is associated with a very high mortality. Recent evidence suggests that proinflammatory cytokines (interleukins 1 and 6 and tumor necrosis factor alpha) released into the circulation in response to sepsis can be removed from the blood via hemofiltration and appear in the dialysate in times of peritoneal dialysis as well. METHODS: An infant who developed acute renal failure in full-blown sepsis is presented. Peritoneal dialysis was initiated on the fourth day after admission. Changes in clinical and laboratory parameters were monitored. RESULTS: Urine output (1.13 mL/kg per hour) began to improve on the sixth day after admission (second day after the introduction of peritoneal dialysis); normalization of serum creatinine level was achieved on the 30th day after admission. Parallel with the serum creatinine level (255 micromol/L on day 5 after admission vs 208 micromol/L by day 9 after admission, fifth day of PD), serum procalcitonin, C-reactive protein, and lactate dehydrogenase levels decreased dramatically (procalcitonin >500 vs 261 microg/L; C-reactive protein, 203 vs 25.9 mg/L; and lactate dehydrogenase, 3092 vs 1744 U/L on days 5 and 9 after admission, respectively). CONCLUSIONS: Considering that there are no guidelines defined for the management of acute renal failure with accompanying sepsis in children, authors point out that peritoneal dialysis is an easy-to-perform and effective renal replacement modality in low body weight, critically ill patients. Early initiation of peritoneal dialysis does not only improve fluid and electrolyte imbalance but also may significantly reduce the destructive effect of systemic cytokine storm in sepsis and contribute to a more favorable outcome, even in cases of critical cardiovascular and hemostaseological status.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:	Pediatric Emergency Care. - 25 : 10 (2009), p. 599-602. -
További szerzők:	Csízy István (1948-) (gyermekgyógyász, gyermeksebész) Szabó Tamás (1968-) (gyermekgyógyász)
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