PubMed Health⌕ Search

Biomedical subjects

D Erçal

Publications and source records attributed to D Erçal.

8 recordsLinked to original sources
PubMed2003

Analyses of polymorphism for UGT1*1 exon 1 promoter in neonates with pathologic and prolonged jaundice.

In this study, we investigated whether a TATA box polymorphism in the promoter of the UGT1*1 exon I, the most common detected DNA polymorphism in Gilbert's syndrome, is a contributory factor in unexplained pathologic or prolonged jaundice. 38 neonates who had unexplained pathologic jaundice, 37 neonates who had unexplained prolonged jaundice, and 35 healthy, nonjaundiced neonates were enrolled in the study. Genotypes were assigned as follows: 6/6 (homozygous for a normal allele bearing the sequence [TA](6)TAA), 7/7 (homozygous for an abnormal allele with the sequence [TA](7)TAA), and 6/7 (heterozygous with one of each allele). Of the 110 infants, 10 (9%) had 7/7, 51 (46%) had 6/7, and 49 (45%) had 6/6 genotype; the differences between the three groups were not statistically significant. Also no differences were observed among different genotypes and mean serum total bilirubin concentrations. In conclusion, we showed that TA 7/7 and TA 6/7 genotypes are not rare in our population and that the presence of these polymorphisms alone does not play a significant role in the etiology of unexplained pathologic or prolonged neonatal hyperbilirubinemia.

Alleles↗
PubMed2002

Amelogenesis imperfecta with growth hormone deficiency in a 12 year-old boy.

Amelogenesis imperfecta (AI) is a diverse group of hereditary disorders that are characterized by a defect in the formation of the tooth enamel and a high degree of clinical diversity. X-linked, autosomal dominant and recessive inheritance have been demonstrated. Growth hormone (GH) has an effect on bone and soft tissue development. Dental and facial abnormalities associated with pituitary dwarfism have been reported, but GH deficiency with AI is very rare. We describe a 12 year-old pre-pubertal boy who was referred to our hospital with teeth deformities and growth retardation. His teeth had brown-yellow pigmented surfaces, and dental examination showed extensive enamel deficiency in his permanent teeth. He also had severe growth retardation; height SDS was -3.6. Laboratory examinations showed reduced GH levels, and he was diagnosed as having idiopathic isolated GH deficiency and AI.

Amelogenesis Imperfecta↗
PubMed2001

Goldston syndrome: report of a case.

Cerebrohepatorenal malformation is a rare familial disorder characterized by typical renal lesions combined with Dandy-Walker malformation, and congenital hepatic fibrosis. In this case report, a male premie with the diagnosis of cerebrorenal syndrome or so called Goldston syndrome is presented. Besides the rarity of this syndrome, this case is the second reported patient diagnosed prenatally.

Abnormalities, Multiple↗
PubMed1993

Neutrophil chemotaxis and periodontal status in Down's syndrome patients.

Along with clinical parameters, chemotaxis and random migration of neutrophils were evaluated in 15 patients with Down's syndrome (DS) and 15 healthy subjects. Signs of more severe gingival inflammation were present in the DS group. The random migration and chemotaxis of neutrophils were significantly decreased in comparison with the control group. In DS, the pathological status was attributed to these impaired host defense factors besides the existing bacterial plaque.

Adolescent↗
PubMedDate not supplied

Sotos syndrome with septo-optic dysplasia.

A 12 2/12 year-old boy was admitted to our hospital with the complaint of rapid growth. His birth and postnatal growth history, developmental retardation, physical examination and skeletal radiograms suggested Sotos syndrome. CT and MRI findings revealed septo-optic dysplasia (SOD), which is usually characterized by poor growth, together with cerebral gigantism in our case. These two entities are both rare and as far as we know this is the first patient in the literature with Sotos syndrome and SOD.

Age Determination by Skeleton↗
PubMedDate not supplied

Tricho-rhino-phalangeal syndrome type I.

Tricho-rhino-phalangeal syndrome type I (TRPS I) is characterized by a bulbous nose, sparse hair and epiphyseal coning. Autosomal dominant and recessive transmission are suggested. The presence of cone-shaped epiphyses, the major complaint of patients due to swelling over the phalangeal joints, requires differential diagnosis among various syndromes. This paper, describing a ten-year-old girl with TRPS I, aims to bring the features of the syndrome to medical attention.

Abnormalities, Multiple↗
PubMedDate not supplied

Nonimmune hydrops fetalis and bilateral pulmonary hypoplasia in a newborn infant with nuchal vascular hamartoma.

Nuchal vascular hamartoma was found in a newborn premature infant who presented with nonimmune hydrops fetalis, pulmonary hypoplasia due to bilateral pleural effusion and polyhydramnios in utero. The baby died 26 hours after birth despite maximal respiratory and circulatory support. Postmortem examination revealed a vascular hamartoma localized to the left posterolateral region of the neck. We suggest that nuchal vascular hamartoma may be associated with fetal hydrops, probably due to compromised lymph drainage.

Abnormalities, Multiple↗