BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening.

There are few causes of treatable neurodevelopmental diseases described to date. Branched-chain ketoacid dehydrogenase kinase (BCKDK) deficiency causes branched-chain amino acid (BCAA) depletion and is linked to a neurodevelopmental disorder characterized by autism, intellectual disability and microcephaly. We report the largest cohort of patients studied, broadening the phenotypic and genotypic spectrum.

Double Extrahepatic Biliary Duct.

We report a 39-year-old male patient diagnosed with double extrahepatic biliary ducts by magnetic resonance cholangiopancreatography. Respiratory-triggered 3-dimensional magnetic resonance cholan - giopancreatography was performed during free breathing. Two extrahepatic biliary ducts, an anomalous union of accessory extrahepatic biliary duct with pancreatic duct, and a unique com - munication channel between 2 extrahepatic biliary ducts were determined on maximum intensity projection and 3-dimensional magnetic resonance cholangiopancreatography volume rendering.

Evaluation of clinical, endocrine and metabolic findings in obese children with and without hepatosteatosis.

Objectives: Non-alcoholic fatty liver disease (NAFLD) is a common obesity-related comorbidity in childhood. In this study, we aimed to evaluate predictors of NAFLD by comparing clinical, endocrine and metabolic findings in obese children with and without hepatosteatosis.

Methods: Two hundred and eight obese children aged 6-18 years were included.

Clinical Importance of Main Portal Vein and Right Portal Vein Variations: A Prevalence Study With 128-Slice Multidetector Computed Tomography.

Objectives: The portal vein variation type significantly affects the outcome of transplant surgery, hepatectomies, and interventional radiological procedures. To reveal variation types, especially rare types, we used high-technology multidetector computed tomography.

Materials And Methods: We evaluated multiphase abdominal multidetector computed tomography scans of 278 consecutive patients.

Prenatal diagnosis of abnormality of the umbilical portal DV complex: difficulty in universal classification due to various alternative routes in hepatic circulation for placental drainage.

Objective: To review our experience with fetal abnormality of the umbilical-portal-DV complex and to discuss the new classification system for umbilical portal systemic venous shunts (UPSVS) according to our cases.

Methods: This study was a retrospective analysis of fetuses with a prenatal diagnosis of abnormality of the umbilical-portal-DV complex. The integrity of the fetal umbilical-portal ductus venosus complex and the hepatic venous system were evaluated using two-dimensional color Doppler sonography.

Lipid accumulation product is a predictor of nonalcoholic fatty liver disease in childhood obesity.

Background: Lipid accumulation product (LAP) is associated with the presence and severity of nonalcoholic fatty liver disease (NAFLD) in adults.

Purpose: Here we evaluated the ability of LAP to predict NAFLD in obese children.

Methods: Eighty obese children (38 girls; age 6-18 years) were included.

Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort.

Purpose: Autosomal recessive nonsyndromic deafness (ARNSD) is characterized by a high degree of genetic heterogeneity, with reported mutations in 58 different genes. This study was designed to detect deafness-causing variants in a multiethnic cohort with ARNSD by using whole-exome sequencing (WES).

Methods: After excluding mutations in the most common gene, GJB2, we performed WES in 160 multiplex families with ARNSD from Turkey, Iran, Mexico, Ecuador, and Puerto Rico to screen for mutations in all known ARNSD genes.

Evidence for genotype-phenotype correlation for OTOF mutations.

Objectives: The aim of this study is to evaluate the auditory phenotype in subjects with OTOF gene mutations to describe genotype-phenotype correlations.

Methods: Twenty-two affected members from three families with homozygous OTOF mutations were included. Nine subjects were evaluated audiologically with otoscopic examination, pure-tone audiometry, tympanometry with acoustic reflex testing, auditory brain stem responses, and otoacoustic emission tests.

Recurrent and private MYO15A mutations are associated with deafness in the Turkish population.

The identities and frequencies of MYO15A mutations associated with hearing loss in different populations remained largely unknown. We screened the MYO15A gene for mutations in 104 unrelated multiplex and consanguineous Turkish families with autosomal recessive nonsyndromic sensorineural hearing loss using autozygosity mapping. The screening of MYO15A in 10 families mapped to the DFNB3 locus revealed five previously unreported mutations: p.

Evaluation of interlobar and accessory pulmonary fissures on 64-row MDCT.

We aimed to describe the prevalence, morphology, and completeness of the oblique, horizontal, and accessory fissures on 64-row multidetector computed tomography (MDCT) scans. Three hundred and eighty-seven patients were included in this study. The lungs were scanned from apex to diaphragm using 1-mm collimation.

Double outlet right ventricle with giant pulmonary artery aneurysm and severe aortic coarctation: diagnosis with multislice CT.

Complex cardiovascular pathologies in the pediatric population are usually evaluated with echocardiography and catheter angiography as initial and advanced imaging of choice, respectively. Echocardiography may pose some difficulties in the diagnosis of complex cardiovascular pathologies. Due to short acquisition times, detailed imaging by the use of post-processing techniques, reduced radiation exposure compared to catheter angiography, and additional information obtained on lung parenchyma, multi-slice computed tomography (CT) is the advanced imaging method of choice in selected cases.

Effects of paramagnetic contrast agents on the gallbladder volume.

Purpose: Iodinated contrast agents lead to contraction of the gallbladder. The purpose of this prospective study was to investigate whether the paramagnetic contrast agents used for magnetic resonance imaging (MRI) cause volume changes in gallbladder or not.

Materials And Methods: The gallbladder volume changes were evaluated by ultrasound just before and 15 minutes after the imaging procedure in 10 patients without any paramagnetic contrast agent administration and 36 patients in whom paramagnetic contrast agents were administered during MRI.

The frequency of intracranial arterial fenestrations: a study with 64-detector CT-angiography.

Fenestration is a vascular variation that begins with a common origin, then splits into two parallel luminal channels and rejoins distally. Potential association between anomalies of cerebral circulation and increased occurrence of aneurysm makes intracranial arterial fenestrations important. The planning of intracranial arterial interventions may be complicated if a fenestration occurs proximal to the site of intended treatment.

Diameters of normal thoracic vascular structures in pediatric patients.

Purpose: To determine the normal range of aortic and pulmonary artery diameters on chest CT, and to search a constant ratio when the diameters of thoracic vascular structures are compared with an internal reference.

Methods: Contrast-enhanced chest CT scans of 133 pediatric patients were retrospectively evaluated. Diameters of ascending and descending aorta, main pulmonary artery, right and left pulmonary arteries and a constant thoracic vertebra were measured.

Migration of ventriculoperitoneal shunt into the lung by passing through the liver and the diaphragm.

Thoracic complications are rare after shunt placement for drainage of cerebrospinal fluid to treat hydrocephalus. We report a case of a ventriculoperitoneal shunt catheter that migrated into the lung by passing through the liver and the diaphragm. To our knowledge, there is no previously published report of a ventriculoperitoneal shunt that has migrated into the lung by a transdiaphragmatic and transhepatic route.

64-MDCT pulmonary angiography and CT venography in the diagnosis of thromboembolic disease.

Objective: The purpose of our study was to investigate whether CT venography (CTV) performed after CT pulmonary angiography (CTPA) using 64-MDCT provides additional findings in the diagnosis of thromboembolic disease.

Materials And Methods: Three hundred six consecutive patients in whom pulmonary embolism (PE) was clinically suspected were included in the study. The study group was classified according to the diagnostic quality of the CTPA examinations, the presence or absence of PE and deep venous thrombosis (DVT), and the most proximal localization that the embolus could lodge in the pulmonary artery.

Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: a report of five novel mutations.

Genome wide homozygosity mapping using Affymetrix 10K arrays revealed the DFNB7/11 locus including the TMC1 gene in 5 of 35 Turkish families with autosomal recessive nonsyndromic severe to profound congenital or prelingual-onset sensorineural hearing loss (SNHL). Additional 51 families were later screened for co-segregation of the locus with the phenotype using microsatellite markers. GJB2 and mtDNA A1555G mutations were negative in probands from each family.

A rare cause of hyperbilirubinemia in a newborn: bilateral adrenal hematoma.

Hyperbilirubinemia is an important health problem in newborns. The most common causes are Rh and ABO incompatibility, hemolytic anemias, enzyme deficiencies, sepsis, hypothyroidism, pyloric stenosis and breast-milk jaundice. Adrenal hemorrhage is a rare cause of hyperbilirubinemia in the neonate.

Isolated traumatic gallbladder rupture: US findings and the role of repeat US in diagnosis.

We represent the US findings of isolated gallbladder rupture caused by blunt abdominal trauma in a 13-year-old boy. At the initial US examination, although a pericholecystic fluid collection was observed, the mildly collapsed gallbladder was regarded as a contracted gallbladder. Even though the patient was haemodynamically stable, repeat US examination after 24 h revealed gallbladder perforation.

Horseshoe lung associated with rare bilateral variant of scimitar syndrome: demonstration by 64-slice MDCT angiography.

Scimitar syndrome with bilateral abnormal venous drainage and horseshoe lung is extremely rare. These rare complex anomalies were diagnosed in a 5-year-old boy by 64-slice multidetector CT (MDCT). This technique provides high-quality visualization of vascular, bronchial and parenchymal structures in a single session, such that no further invasive techniques are required.

Clinical and cranial magnetic resonance imaging (MRI) findings of 21 patients with serious hyperbilirubinemia.

This study aims to compare neurological examination and cranial magnetic resonance imaging (MRI) findings in patients with serious hyperbilirubinemia. Twenty-one serious hyperbiluribinemic term neonates (6 girls, 15 boys) who underwent exchange transfusions were included in the study. Neurological examination findings, body weight, age at admission, blood culture, urine culture, urine analysis, C-reactive protein, thyroxine, thyroid-stimulating hormone, total and indirect bilirubin levels, causes of hyperbilirubinemia (blood group typing, glucose-6-phosphate dehydrogenase, blood smear, tandem mass), treatment and duration of follow-up, auditory test results, and cranial MRI findings were evaluated.

[Broken Racz catheter during application (case report)].

The most important complication of lumber disc hernia operations is Failed Back Surgery Syndrome (FBSS), which goes with fibrotic adhesions at the surgical site. The primary treatment applied to the cases that develop FBSS is the placement of Racz catheter under floroscopy and application of epidural neuroplasty which is a three-day procedure. However, this intervention, from which patients benefit a great deal, has some important complications during and after the application.