Tufan Çankaya

Celiac disease in children with Down syndrome : Importance of follow-up and serologic screening

Background : Celiac disease, also known as gluten‐sensitive enteropathy, is a chronic inflammation disease of the small intestinal mucosa. Detection of Ig‐A antigliadin antibodies (AGA) and antiendomysial antibodies (EMA) in serum is important in the diagnosis and screening for celiac disease. Antiendomysial antibodies have greater sensitivity compared to antigliadin antibodies. It has been reported that the prevalence of celiac disease is higher in children with Down syndrome than the other autoimmune conditions. The aim of the present study was to investigate the incidence of celiac disease in children with Down syndrome, to assess the availability of Ig‐A AGA and EMA for serologic screening, and to highlight the importance of follow‐up for children with Down syndrome.

New mutations in the ATM gene and clinical data of 25 AT patients

Ataxia telangiectasia (AT) is an autosomal recessive disorder characterized by cerebellar degeneration, immunodeficiency, oculocutaneous telangiectasias, chromosomal instability, radiosensitivity, and cancer predisposition. The gene mutated in the patients, ATM, encodes a member of the phosphatidylinositol 3-kinase family proteins. The ATM protein has a key role in the cellular response to DNA damage. Truncating and splice site mutations in ATM have been found in most patients with the classical AT phenotype. Here we report of our extensive ATM mutation screening on 25 AT patients from 19 families of different ethnic origin. Previously unknown mutations were identified in six patients including a new homozygous missense mutation, c.8110T>C (p.Cys2704Arg), in a severely affected patient. Comprehensive clinical data are presented for all patients described here along with data on ATM function generated by analysis of cell lines established from a subset of the patients.

Lack of association of childhood partial epilepsy with brain derived neurotrophic factor gene.

Brain-derived factor (BDNF) is a member of neurotrophin family and is localized and upregulated in areas implicated in epileptogenesis. Several lines of evidence make the BDNF gene a plausible candidate gene for predisposition to epilepsy. In this study, we tested that BDNF might be involved in the etiology of childhood PE. To assess whether BDNF gene C270T polimorphism could be implicated in vulnerability to PE, we conducted a case-control association analysis (112 partial epileptic and 100 controls) in Turkish children. Epileptic children were divided into two groups: 1—idiopathic (n = 85) and 2—symptomathic epilepsy (n = 27). There was no significant difference in genotypic distribution and allelic frequencies of the BDNF gene C270T polimorphism between the PE and control groups. However, the BDNF gene TT genotype was more frequently seen in the epileptic children (15 versus 11 patients, resp.). Interestingly, in the epilepsy group, both two children with TT genotype have posttraumatic epilepsy. The data indicate a possible association with the 270T genotype of the BDNF gene with a posttraumatic epilepsy. To draw any conclusion, further studies using larger sample sizes should be carried out in various ethnic populations in childhood epilepsies.

Interview with Parents of Children with Down Syndrome: Their Perceptions and Feelings

ObjectiveTo obtain information about the life of the families having children with Down Syndrome through an interview with parents. The authors focused on the effect of having a child with Down syndrome on the parents, factors causing problems on the family and the characteristics of a family with children having Down syndrome.MethodsIn the present study, the authors evaluated the social, economic and individual problems of the parents (n = 100) who had a child with DS by an interview consisting of 16 questions about the families’ characteristics, their relations with each other and other people and their attitudes towards the child with DS . The control group consisted of 100 subjects having healthy children who were recruited from the outpatient clinics of the same hospital.ResultsThe authors found that children with DS mostly spend their time with their mothers, and mothers reported higher levels of stress than fathers. The rate of mothers who reported higher possibility to divorce in the future is much higher than fathers (p < 0.05).ConclusionsHigh rates of marital and parental problems, particularly perceived by the mothers, observed in this study are the main issues which should be considered during the assessment of those children in order to cope with the problems and improve both patients’ and families’ life quality.

New chromosome rearrangement in acute lymphoblastic leukemia

Cytogenetic findings in leukemia can be used in the diagnosis, prognosis, and in the definition of different subgroups. The most common chromosome abnormalities associated with mature B-cell acute lymphoblastic leukemia (ALL) are t(8;14), t(8;22), t(2;8), and partial duplication of 1q. Various abnormalities involving chromosome 1 have also been reported in ALL. We present a 16-year-old male with mature B-cell ALL whose cytogenetic analysis of bone marrow showed the karyotype of 46,XY,t(8;14)(q24;q32), -15,der(1;15)(p10;q10). The case presented here carries one of the most common abnormalities, t(8;14) (q24;q32), and a new rearrangement, der(1;15)(p10;q10), which has not been described to date in mature B-cell ALL.

Assessment of sleep problems in children with familial Mediterranean fever

This study aimed to investigate sleep patterns, sleep disturbances and possible factors that are associated with sleep disturbances among children with familial Mediterranean fever (FMF).

Cerebro‐costo‐mandibular syndrome: A case report

order characterized by multiple rib abnormalities and Robin anomaly.1 Most cases show motor and/or mental retardation. About 50 cases have been described until now worldwide. The syndrome shows genetic heterogeneity and both familial and sporadic cases have been reported to date.2–5 Here we describe a case showing the cardinal features of CCMS. The parents were consanguineous and the mother lost three more children with similar findings. As parental consanguinity was involved and three siblings died from a similar disorder, this supports autosomal recessive inheritance mode for this syndrome.

Termination of pregnancy for fetal abnormalities: main arguments and a decision-tree model.

By looking through our ethical committee cases, we demonstrate the main arguments we use for making a judgment in face of fetal abnormalities. Our decision making model is a simplified algorithm of the arguments and concepts we use in scientific‐ethic discussion.

UroVysion fluorescence in situ hybridization (UroVysion FISH) assay for detection of bladder cancer in voided urine of Turkish patients: a preliminary study.

Bladder cancer is the fourth most common cancer in men and the fifth most common cancer worldwide. UroVysion FISH has high sensitivity and specificity for urothelial carcinoma detection. We investigated the genetic marker detected by the UroVysion FISH technique in diagnosis of Turkish bladder cancer patients and compared these results with the urine cytology and cystoscopy. Urine specimens were analyzed using UroVysion FISH probes for abnormalities in centromeric chromosomes 3, 7, and 17 and locus-specific 9p21. Morning fresh voided urine samples were collected from each patient for FISH analysis. Cytology and histopathology analysis were performed by the pathology department. Twenty-seven bladder cancer patients (23 male and 4 female) with a history of bladder cancer who provided informed consent were included in this prospective study. The results showed that cancer was detected in 8 patients via FISH; 7 via cytology; 12 via cystoscopy. According to the pathology results, 15 were normal, 10 high-grade carcinoma and 2 low-grade carcinoma. Sensitivity of these methods with FISH, cytology, and cystoscopy was 29.6%, 25.9%, and 44.4%, respectively. In conclusion, all tests have different advantages and disadvantages. Also, larger studies will be needed to confirm these results. But, UroVysion FISH appeared to have good specificity for detecting bladder cancer in urine specimens and also it is important to correlate the FISH results with the cystoscopy and cytological findings.

Trigonocephaly and Wilson's disease in two siblings.

Trigonocephaly and Wilsons disease (WD) are two different entities. The former is a type of craniosynostosis that occurs because of fusion of the metopic suture and the latter, also called hepatolenticular degeneration, is caused by an accumulation of copper in tissues all over the body because of failure of copper excretion. No single gene has been identified for trigonocephaly whereas the ATP7B gene has been shown to be responsible for Wilsons disease. Here we present two siblings born to nonconsanguineous parents who both presented with trigonocephaly, Wilsons disease and facial dysmorphism. In addition, the female has renal agenesis and the male has a history of undescended testis. Karyotypes were normal and no mutation of the ATP7B gene has been identified in the patients or their parents.