Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study.

Pontocerebellar hypoplasia (PCH) is a heterogeneous group of neurodegenerative disorders characterized by hypoplasia and degeneration of the cerebellum and pons. We aimed to identify the clinical, laboratory, and imaging findings of the patients with diagnosed PCH with confirmed genetic analysis. We collected available clinical data, laboratory, and imaging findings in our retrospective multicenter national study of 64 patients with PCH in Turkey.

Clinical and Genetic Spectrum of Myotonia Congenita in Turkish Children.

Background: Myotonia congenita is the most common form of nondystrophic myotonia and is caused by Mendelian inherited mutations in the CLCN1 gene encoding the voltage-gated chloride channel of skeletal muscle.

Objective: The study aimed to describe the clinical and genetic spectrum of Myotonia congenita in a large pediatric cohort.

Methods: Demographic, genetic, and clinical data of the patients aged under 18 years at time of first clinical attendance from 11 centers in different geographical regions of Türkiye were retrospectively investigated.

Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome.

Objective: Joubert syndrome is a neurodevelopmental disorder with a distinctive hindbrain malformation called molar tooth sign, causing motor and cognitive impairments. More than 40 genes have been associated with Joubert syndrome. We aim to describe a group of Joubert syndrome patients clinically and genetically emphasizing organ involvement.

First Case of MELAS Syndrome Presenting with Local Brain Edema Requiring Decompressive Craniectomy.

Mitochondrial encephalomyopathy, lactic acidosis, and recurrent stroke-like episodes (MELAS) syndrome is a rare but one of the most common maternally inherited multisystem disorder. Although patients with MELAS present a variable clinical profile, strokelike lesions have been detected in 90% of cases, with stroke being the first presenting symptom in 25% of cases. However, cases of local brain edema requiring decompressive craniectomy has not been reported.

Effects of Inspiratory Muscle and Balance Training in Children with Hemiplegic Cerebral Palsy: A Randomized Controlled Trial.

The aim of the study was to investigate the effects of inspiratory muscle and balance training on pulmonary function, respiratory muscle strength (RMS), functional capacity, and balance in children with hemiplegic cerebral palsy (CP). Thirty children with hemiplegic CP (Gross Motor Function Classification System I-II) included in this study. The control group (n = 15) underwent conventional physiotherapy rehabilitation program (CPRP) that included balance exercises, and the training group's (n = 15) program included inspiratory muscle training (IMT) in addition to CPRP for 8 weeks.

A Severe Congenital Neutropenia Type 4 Case (G6PC3 Mutation) Presented With Large Platelets in the Peripheral Smear.

Severe congenital neutropenia type 4 is a disorder of the hematopoietic system associated with mutations in the glucose-6-phosphatase catabolic 3 (G6PC3) gene. This disorder is characterized by neutropenia, congenital heart defects, urogenital malformations, and prominent superficial veins. To our knowledge, although intermittent thrombocytopenia is observed in this mutation, the coexistence of large thrombocytes is rarely seen.

Bradycardia seen in children with Crimean-Congo hemorrhagic fever.

Introduction: Crimean-Congo hemorrhagic fever (CCHF) is a zoonotic viral disease with a high mortality rate. In clinical practice, we observed bradycardia in some pediatric patients with CCHF during the clinical course. So we aimed to report CCHF cases that presented bradycardia during the clinical course and the relation of bradycardia with the clinical findings and ribavirin therapy.

The role of heparan sulphate in pathogenesis of Crimean-Congo hemorrhagic fever disease.

Background & Objectives: Crimean-Congo hemorrhagic fever (CCHF) is a viral infection typically transmitted by tick bite. This study is to define the level of heparan sulphate (HS) in serum/urine since HS may play a role in the pathogenesis of hemorrhagic events in the patients with CCHF.

Methods: In this study, the patient group consisted of 79 cases with a positive diagnosis of CCHF according to PCR/ELISA outcome among the patients referred to Cumhuriyet University, School of Medicine in 2010.

Anterior rhinomanometry and determination of nasal mucociliary clearance time with the saccharin test in children with Crimean-Congo hemorrhagic fever.

Objectives: Crimean-Congo hemorrhagic fever (CCHF), like other viral infections, may prolong mucociliary clearance time and increase nasal resistance in children. The aim of the present prospective case-control study was to study, using saccharin and anterior rhinomanometry tests, whether CCHF infections caused any change in nasal physiology.

Methods: Overall, 40 subjects, 20 of whom had CCHF (group 1) and 20 of whom were healthy controls (group 2), were enrolled in this study.

The prevalence and outcomes of thrombocytopenia in a neonatal intensive care unit: a three-year report.

Neonatal thrombocytopenia is one of the most common hematologic disorders in neonatal intensive care units (NICUs). The purpose of this study was to determine the prevalence of thrombocytopenia and whether thrombocytopenia has an effect on the occurrence of intraventricular hemorrhage (IVH) ≥ grade 2 and on mortality rate. This study was carried out retrospectively in neonates admitted to NICU of Cumhuriyet University in Sivas, Turkey, between 2009 and 2012.

Prevalence of known mutations in the MEFV gene in a population screening with high rate of carriers.

The Familial Mediterranean Fever (FMF) shows an autosomal recessive pattern of inheritance and affects certain ethnic groups. Disease is caused by mutations in MEFV gene and more than 180 mutations have been defined in affected individuals. Current study aimed to determine the frequency-type of the mutations for MEFV gene in Sivas-middle Anatolian city.

Cerebral hemiatrophy (Dyke-Davidoff-Masson syndrome) in childhood: clinicoradiological analysis of 19 cases.

Background: The purpose of this study was to emphasize the clinical and imaging findings of 19 child cases of cerebral hemiatrophy.

Methods: A total of 11 male and eight female patients underwent assessment with computed tomography and magnetic resonance imaging. The patients ranged from 1 to 17 years in age.

Serum leptin levels in children receiving long-term carbamazepine.

In this article we studied serum leptin levels in children receiving long-term carbamazepine (CBZ) therapy (mean 3.4 years) to determine whether or not there was a relationship between serum leptin level and CBZ therapy. The study includes 14 patients followed with the diagnosis of epilepsy and treated long term CBZ, and 19 healthy children.

Effect of long-term carbamazepine therapy on serum lipids, vitamin B12 and folic acid levels in children.

Serum triglycerides, total cholesterol (TC), high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), very low-density lipoprotein cholesterol (VLDL-C), vitamin B12 and folic acid levels were studied in 16 children with epilepsy who had been receiving carbamazepine (CBZ), and in 16 healthy children. Our purpose was to determine whether there was any effect of CBZ therapy on serum lipids, vitamin B12 and folic acid levels. Age ranged from 5 to 19 years (12.

An adrenal cyst in a newborn.

Adrenal cysts (AC) are rare, particularly in the newborn period. Almost all ACs in newborns were diagnosed on exploratory laparotomy or at autopsy. We report a newborn with an AC that was diagnosed after an exploratory laparotomy due to its rare presentation.

Serum C-reactive protein and interleukin6 levels in neonatal sepsis.

In this article, we studied complete blood count, serum C-reactive protein (CRP) and interleukin (IL-6) levels in 30 newborn infants with sepsis at admission, in the 24th hour of admission and at the end of the treatment. Our purpose was to determine the relationship among these parameters in the early diagnosis of neonatal sepsis. In our study, there was not a significant difference in white blood cell (WBC) and thrombocyte count among the values of the first, 24th hour and end of therapy in the study group (P > 0.

Combined genetic defects in a child with ischemic stroke: case report.

A 10-year-old Turkish boy was admitted with mild right spastic hermiplegia. First, he experienced sudden numbness and weakness in the right extremities at the age of 2 years and was diagnosed with right hemiparesis. His parents were generally healthy and non-consanguineous.