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S Balci

Publications and source records attributed to S Balci.

At least 55 records · Page 3Linked to original sources
PubMed1996

Homozygous and compound heterozygous mutations at the Werner syndrome locus.

The Werner syndrome (WS) is a rare autosomal recessive progeroid disorder. The Werner syndrome gene (WRN) has recently been identified as a member of the helicase family. Four distinct mutations were previously reported in three Japanese and one Syrian WS pedigrees. The latter mutation was originally described as a 4 bp deletion spanning a spliced junction. It is now shown that this mutation results in a 4 bp deletion at the beginning of an exon. Nine new WRN mutations in 10 additional WS patients, both Japanese and Caucasian, are described. These include three compound heterozygotes (one Japanese and two Caucasian). The new mutations are located all across the coding region.

Asian People↗
PubMed1996

Dermatological manifestations of 71 Down syndrome children admitted to a clinical genetics unit.

Seventy-one children with Down syndrome who were admitted consecutively to Hacettepe University Children's Hospital Genetics department were examined for skin disorders. None of the patients suffered directly from skin disorders. All were living with their families and had approximately similar living conditions. There were 29 children with palmoplantar hyperkeratosis (40.8%), seven with xerosis (9.8%), 22 with seborrheic dermatitis (30.9%), 14 with fissured tongue (20%), eight with geographic tongue (11.2%), and nine with cutis marmorata (12.6%). Nine had normal skin findings. Since palmoplantar hyperkeratosis may be a result of vitamin A deficiency, the serum vitamin A levels of these patients were evaluated. There was no statistical difference between vitamin A levels of the children with Down syndrome and the control group.

Child↗
PubMed1996

Keipert syndrome in two brothers from Turkey.

Two brothers, 17 and 21 years of age, with depressed nasal bridge, prominent frontal bones, hypoplastic maxilla, mild sensorineural hearing loss, broad terminal phalanges and mild pulmonary stenosis are presented. These findings are similar to those of the syndrome described by Keipert et al. in 1973. To the best of our knowledge, this is only the second report of this syndrome.

Abnormalities, Multiple↗
PubMed1995

An artificial intelligent diagnostic system with neural networks to determine genetical disorders and fetal health by using maternal serum markers.

OBJECTIVE: To develop an artificial intelligent diagnostic system with neural networks to determine genetical disorders and fetal health problems by using maternal serum markers ('Triple Test') and maternal age. STUDY DESIGN: A total of 112 pregnant women were referred to Fetal Medicine Unit of Hacettepe University Hospital for fetal ultrasonography and chromosome analysis with different indications. All patients underwent genetic amniocentesis or fetal blood sampling under ultrasound guidance. Gross malformations and hydrops fetalis were detected in 15 and 5 fetuses, respectively. We have found chromosomal abnormality in 7 cases. 'Triple Test' is offered to all patients and serum levels of alpha-fetoprotein, human chorionic gonadotropin and unconjugated estriol were analyzed by radioimmunoassay. In this study, we have used supervised artificial neural network structure to develop a diagnostic system. Our system's input parameters are maternal age, gestational age and 'Triple Test' results. Our system consists of two different artificial neural network modules whose decision-making logics are different. One of them is designed to search genetical disorders while the other one is for the assessment of fetal well-being. Confusion matrix is used for statistical evaluation. RESULTS: The discriminatory power of the artificial neural network to search genetical disorders and fetal well-being is found to be highly significant (z = 10.583 and z = 10.424, respectively). CONCLUSION: This system brings objectively to the evaluation of 'Triple Test' results and can be used both for the detection of genetical disorders and fetal well-being. Nevertheless, the analysis program's performance is limited to input information and knowledge and medical expert expert can not get more than he or she has donated the system.

Adolescent↗
PubMed1995

Familial intestinal polyatresia syndrome.

Familial multiple-level intestinal atresia is a rare syndrome with autosomal recessive inheritance. Only a few well-documented families have been reported in the medical literature. In this article two new cases from a consanguineous couple are presented. These are the first reported cases of Familial Intestinal Polyatresia Syndrome from Turkey. The importance of this report is that the recognition of multiple intestinal atresias as an invariably fatal syndrome will be helpful for genetic counselling and attempts at early prenatal diagnosis for successive pregnancies in these couples.

Female↗
PubMed1995

Intussusception due to inflammatory fibroid polyp of the ileum. A report of two cases from Turkiye.

Intussusception due to inflammatory fibroid polyps is a very rare entity. In this article two cases of inflammatory fibroid polyps of the ileum (A 32-year old man and a 50-year old woman) in Turkiye are described. Both patients were admitted to the hospital because of acute intestinal obstruction as a result of an intussusception caused by a polyp. The lesions were characterized by an eozinophil containing loosely structured fibrous tissue comprising an onion-skin like arrangement of reticular fibers with spindle-shaped nuclei localised in the submucosa and the base of the mucosa, and variable proliferation of fibroblasts and small vessels. The aetiology of these polyps remains obscure but they appear to be a reactive process (allergic or foreign body reaction) rather than neoplastic. Nkanze et al reported 12 cases of intussusception due to fibroid polyps in Africa. Our two cases are the first cases in Turkiye.

Adult↗
PubMed1994

Down syndrome associated with systemic lupus erythematosus: a mere coincidence or a significant association?

An 8-year-old male, who had Down syndrome associated with systemic lupus erythematosus (SLE), is described. He also had a partial complement 4 deficiency. This case is a reminder that the physician should be aware of the possibility of an immune defect in a male presenting with SLE at a young age. The question of whether the association of Down syndrome with SLE is coincidental or whether there is a predilection for autoimmune disorders in Down syndrome is discussed.

Child↗
PubMed1993

Autosomal recessive alobar holoprosencephaly with cyclops in three female sibs: prenatal ultrasonographic diagnosis at 18th week.

A couple who were first cousins were referred for genetic counselling because of a previous spontaneous abortion and two female stillbirths with cyclopia. In the 18th week of the mother's fifth pregnancy a holoprosencephalic fetus was diagnosed by ultrasonography. The pregnancy was terminated. Postmortem computed tomography and pathological examination revealed that the female fetus had alobar holoprosencephaly with cyclopia. Chromosomal analysis of the fetus was normal.

Abortion, Induced↗
PubMed1993

Robinow syndrome: with special emphasis on dermatoglyphics and hand malformations (split hand).

Fourteen cases of Robinow syndrome are described with special emphasis on dermatoglyphics and hand malformations (split hands were detected in two, ectrodactyly with nail hypoplasia in one and hypoplastic extra middle finger in another one). Dermatoglyphic studies were performed on ten cases. Increased whorl patterns of the finger tips and a single large palmar hypothenar whorl pattern associated with distally displaced axial triradii were detected. These have not previously been described.

Abnormalities, Multiple↗
PubMed1992

Three cases of oblique facial cleft: etiology, tomographic evaluation and reconstruction.

Three cases of oro-ocular clefts from different families are presented. Two of the cases had a normal chromosomal constitution. The defects in each case were evaluated by computerized tomography computerized tomography prior to surgery. The theories concerning etiology and classification of oblique facial clefts are discussed in the light of computerized tomography scan findings. One of the cases had a history of maternal bromocriptine mesylate usage for prolactinoma, suggesting a teratogenic effect, but no similar cases have been reported in the medial literature.

Adult↗
PubMed1989

Dermatoglyphic study in children with phenylketonuria.

Dermatoglyphic findings in 19 patients with phenylketonuria (11 male and 8 female), 39 of their relatives (18 female and 21 male) and 500 controls (TRC) were not statistically significant among the three groups studied. There was no definite relationship between the phenylketonuric gene and the dermatoglyphic patterns. The parents of half the phenylketonuria cases are not consanguineous; thus the phenylketonuria gene may be more frequent in Turkey than other European countries.

Child↗
PubMed1987

Impaired glucose tolerance in pulmonary tuberculosis.

Glucose tolerance tests were performed in 80 cases; 30 with active pulmonary tuberculosis, 24 with nonspecific pulmonary infection and 26 controls. The new criteria were used for the diagnosis of impaired glucose tolerance (IGT). There was IGT in 4 cases in the tuberculous group, in 3 cases in the nonspecific pulmonary infection group and in none of the controls. The IGT returned to the normal limits in 3 tuberculous patients after 2 months of chemotherapy. This suggests that the higher incidence of IGT in tuberculosis is only associated with the active phase.

Blood Glucose↗