The effect of HFE polymorphisms on cardiac iron overload in patients with beta-thalassemia major.

Objective: We aimed to investigate the effect of human hemochromatosis protein (HFE) polymorphisms on cardiac iron overload in patients with beta-thalassemia major.

Methods: Our study included 33 patients diagnosed with beta-thalassemia major who were treated with regular transfusions and chelation therapy. M-mode, tissue Doppler, and pulsed wave Doppler echocardiography were performed on all patients.

Homozygous mutation of CRLF-1 gene in a Turkish newborn with Crisponi syndrome.

Crisponi syndrome is a recently described rare autosomal recessive disorder. The main clinical features of the syndrome are neonatal onset of episodic contractions of the facial muscles with trismus and abundant salivation resembling a tetanic spasm. Herein, we report a case of 3-day-old male neonate presenting with trismus, abundant salivation, feeding difficulties, camptodactyly, and hyperthermia, which are consistent with the diagnostic criteria of Crisponi syndrome.

Multidrug resistance 1 (MDR1) gene polymorphisms in childhood drug-resistant epilepsy.

Despite considerable progress in the pharmacotherapy of epilepsy, more than 30% of patients are reported to be resistant to antiepileptic drugs. Multidrug resistance 1 (MDR1) gene could play a role in drug resistance in epilepsy. In this study, the authors investigated the association between the MDR1 gene polymorphisms, C3435T and G2677AT, and drug resistance epilepsy by using polymerase chain reaction/restriction fragment length polymorphism and pyrosequencing methods in a group of 39 patients with drug-resistant epilepsy and 92 controls.

The evaluation of the referral reasons of patients at a tertiary pediatric genetic center in Izmir, Turkey.

Our study aimed to review and evaluate the referral reasons of patients at Department of Pediatric Genetics, Ege University, between 1998 and 2006. In total, 2342 patients were referred to the pediatrics outpatient clinic for dysmorphological examination and suspected genetic conditions. The files were evaluated retrospectively, and they were grouped into five categories.

Prenatally diagnosed Turner syndrome and cystic hygroma: incidence and reasons for referrals.

Objective: The objective of this study was to evaluate the incidence and reasons for referrals for prenatally detected Turner syndrome and cystic hygroma cases among prenatal cases performed between 1998 and 2007.

Methods: In this study 3,595 amniocentesis, chorionic villus and cordocenthesis materials obtained between 1998 and 2007 were evaluated. Among prenatal cases, 23 Turner syndrome cases were also evaluated according to their referral reasons.

Febrile seizures: interleukin 1beta and interleukin-1 receptor antagonist polymorphisms.

In order to investigate the association between IL-1beta -511 C-->T and IL-1 receptor antagonist intron 2 variable tandem repeat polymorphisms, and febrile seizures in children, 90 children (mean age, 19.7 +/- 11.2 months) diagnosed with febrile seizure and 106 healthy controls (mean age, 14.

Association of interleukin-1beta and interleukin-1 receptor antagonist gene polymorphisms in Turkish children with atopic asthma.

Asthma is a complex genetic disease. Genetic and functional characteristics of interleukin (IL)-1 support a role as an asthma locus for the IL-1 family on chromosome 2q12-21. This study was performed to investigate the relationship between polymorphisms of IL-1beta promoter region -511C/T and IL-1 receptor antagonist (IL-1Ra) gene (IL-RN) and bronchial asthma in Turkish children.

Congenital supratentorial cystic hemangioblastoma. Case report and review of the literature.

Supratentorial hemangioblastomas are rarely encountered tumors even in the pediatric population; an extensive review of the literature has revealed approximately 118 cases. However, only five of these occurred in infants, and three occurred during the first 2 months of life. A 5-week-old boy presented with emesis, irritability, a bulging anterior fontanelle, and a head circumference that had gradually expanded since birth.

Three circadian clock genes Per2, Arntl, and Npas2 contribute to winter depression.

Background: Multiple lines of evidence suggest that the circadian clock contributes to the pathogenesis of winter depression or seasonal affective disorder (SAD). We hypothesized that sequence variations in three genes, including Per2, Arntl, and Npas2, which form a functional unit at the core of the circadian clock, predispose to winter depression.

Methods: In silico analysis of the biological effects of allelic differences suggested the target single-nucleotide polymorphisms (SNPs) to be analyzed in a sample of 189 patients and 189 matched controls.

Ring chromosome 20 syndrome with intractable epilepsy.

Ring chromosome 20 (r[20]) syndrome is characterized by mild to moderate learning disability*, behavioural disorders, epilepsy, and various dysmorphic features. Although still considered rare, r (20) syndrome is being increasingly diagnosed. More than 30 cases have been described in the literature since 1976.