Biomedical subjects
Publications and source records attributed to A Günlemez.
The effect of oral administration of desmopressin (DDAVP) solution was investigated in a very low birth weight premature infant with central diabetes insipidus that was associated with grade four germinal matrix hemorrhage. As an alternative to the nasal route, long-term successful management resulting in favorable growth and development during infancy was achieved using the oral route.
TPIT is a highly cell-restricted transcription factor that is required for the expression of the propiomelanocortin (POMC) gene and for terminal differentiation of the pituitary corticotroph lineage. Its exclusive expression in pituitary POMC-expressing cells has suggested that its mutation may cause isolated deficiency of pituitary ACTH. We present a neonate with the diagnosis of congenital early onset isolated ACTH deficiency (IAD) associated with a loss of POMC function as a result of a missense mutation in the TPIT gene. A 5 day-old male infant was admitted for hypoglycemia, limpness and conjugated hyperbilirubinemia. Laboratory investigations indicated low plasma cortisol concentration (0.1 microg/dl) accompanying a very low ACTH (<5 pg/ml) concentration. An increase in plasma cortisol concentration following stimulation with low dose exogenous ACTH was observed. On replacement therapy with hydrocortisone (15 mg/m2/day orally), cholestatic jaundice and hypoglycemia resolved and subsequent normal growth (weight, height and head circumference, 25th, 10th and 50th percentile, respectively) and development was achieved without recurrence of hypoglycemic episodes.
We report a patient with clinical and cytogenetic findings consistent with DiGeorge-velocardiofacial syndrome and aplasia of the left lung. To the best of our knowledge, this is the first reported case of DiGeorge-velocardiofacial syndrome associated with unilateral lung aplasia. Gadolinium enhanced three-dimensional magnetic resonance angiography demonstrated associated right-sided aortic arch and left pulmonary artery agenesis.
This study was performed to determine the effectiveness of the Breese scoring system for the diagnosis of streptococcal pharyngitis with respect to different age groups. Two hundred and two children aged three years and younger (Group 1), and 514 children over three years old (Group 2) with complaints of acute pharyngitis were evaluated by Breese scoring and throat-swab cultures. In Group 1, no significant difference was detected in Breese scoring between subjects who had positive and negative culture for group A beta-hemolytic streptococci (GABHS). However, in Group 2 the mean value of the Breese scores was found to be higher in subjects who had positive GABHS. The diagnostic value of Breese scoring was examined for each group. Its sensitivity, and positive and negative predictive values were higher in Group 2 than in Group 1. In conclusion, Breese scoring was determined to be helpful in the diagnosis of streptococcal pharyngitis in children over three years of age.