A founder TMIE mutation is a frequent cause of hearing loss in southeastern Anatolia.

Using Affymetrix 10K arrays, we searched for regions of homozygosity in 51 Turkish families including at least three members with either congenital or prelingual autosomal recessive non-syndromic sensorineural hearing loss (ARNSSNHL), and identified four families whose deafness mapped to the DFNB6 locus on 3p21 containing the TMIE gene. Mutation analysis revealed the p.R84W mutation in all four families.

A new supraglottic airway device: LMA-supreme, comparison with LMA-Proseal.

Background And Objective: The LMA-Supreme() (S-LMA()) is a new supraglottic airway device that presents combined features of flexibility, curved structure and single use and a different cuff structure. The purpose of this study was to compare the oropharyngeal leak pressures (OLP) of LMA-Proseal() (P-LMA()) and S-LMA().

Methods: Sixty adult patients were prospectively and randomly allocated to undergo insertion of P-LMA() (n=30) or S-LMA() (n=30).

Evaluation of dementia rating scales in Parkinson's disease dementia.

Disease-specific assessments are not currently available for patients with Parkinson's disease dementia (PDD). This study evaluated the criterion-related validity and test-retest reliability of the Alzheimer's Disease Assessment scale cognitive subscale (ADAS-cog) in terms of sensitivity for differentiation between mild and moderate severity impairment in PDD. Six other dementia rating scales and cognitive tests were also examined.

Establishment of interdisciplinary child protection teams in Turkey 2002-2006: identifying the strongest link can make a difference!

Objectives: The University of Iowa Child Protection Program collaborated with Turkish professionals to develop a training program on child abuse and neglect during 2002-2006 with the goals of increasing professional awareness and number of multidisciplinary teams (MDT), regional collaborations, and assessed cases. This paper summarizes the 5-year outcome.

Methods: A team of instructors evaluated needs and held training activities in Turkey annually, and provided consultation when needed.

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.

Autosomal recessive cutis laxa type 2 (ARCL2), a syndrome of growth and developmental delay and redundant, inelastic skin, is caused by mutations in the a2 subunit of the vesicular ATPase H+-pump (ATP6V0A2). The goal of this study was to define the disease mechanisms that lead to connective tissue lesions in ARCL2. In a new cohort of 17 patients, DNA sequencing of ATP6V0A2 detected either homozygous or compound heterozygous mutations.

Serum and BAL cytokine and antioxidant enzyme levels at different stages of pneumoconiosis in coal workers.

Coal workers' pneumoconiosis (CWP) is an occupational pulmonary disease that occurs by chronic inhalation of coal dust. CWP is divided into two stages depending on the extent of the disease, as simple pneumoconiosis (SP) and progressive massive fibrosis (PMF). In the present study, serum and bronchoalveolar lavage (BAL) cytokine (interleukin-1beta [IL-1beta], IL-6, tumor necrosis factor-alpha [TNF-alpha], transforming growth factor-beta [TGF-beta]) and antioxidant enzymes levels, their relation with the disease severity, and whether they can be considered as biological markers were investigated.

A complex TFAP2A allele is associated with branchio-oculo-facial syndrome and inner ear malformation in a deaf child.

We present a 4-year-old girl with congenital profound sensorineural deafness associated with inner ear malformation (incomplete partition type II, enlarged vestibule, and enlarged vestibular aqueduct). The proposita also had pseudocleft lips, skin defects, auricle abnormalities, and unilateral multicystic dysplastic kidney, leading to the diagnosis of branchio-oculo-facial (BOF) syndrome. Mutation analysis of the TFAP2A gene showed a de novo deletion of 18 and insertion of 6 nucleotides, resulting in deletion of amino acids LPGARR and insertion of RI between amino acids 276 and 281.

Biering-Sorensen test scores in coal miners.

Objectives: Biering-Sorensen test is an isometric back endurance test. Biering-Sorensen test scores have varied in different cultural and occupational groups. The aims of this study were to collect normative data on Biering-Sorensen holding times, to determine the discriminative ability of the Biering-Sorensen test in Turkish coal miners, and to examine the association between Biering-Sorensen test result and functional disability.

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.

Successful treatment with bortezomib of a refractory humoral rejection of the intestine after multivisceral transplantation.

Graft rejection is a serious complication after intestinal and multivisceral transplantation. Classic anti-rejection strategies often focus on addressing the cellular component, however mounting evidence suggests that antibody mediated rejection may also play an important role in patient and graft survival. Bortezomib, a proteasome inhibitor used in the treatment of multiple myeloma, has been found to be useful in treating antibody mediated rejection in kidney transplant recipients.

Cytokine and immune cell levels in peritoneal fluid and peripheral blood of women with early- and late-staged endometriosis.

Objective: To investigate the level of cytokines and immune cells in the peripheral blood (PB) and peritoneal fluid (PF) of different stages of endometriosis.

Methods: A prospective study was conducted to include 97 women with (n 60) and without (n 37) histopathologically confirmed endometriosis. Based on rASRM classification, stage I/II and stage III/IV were categorized as early-and late-staged endometriosis.

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene.

Hereditary hearing loss (HL) is a very heterogeneous trait, with 46 gene identifications for non-syndromic HL. Mutations in GJB2 cause up to half of all cases of severe-to-profound congenital autosomal recessive non-syndromic HL, with 35delG being the most frequent mutation in Caucasians. Although a genotype-phenotype correlation has been established for most GJB2 genotypes, the HL of 35delG homozygous patients is mild to profound.

Effects of alendronate on rate of distraction in rabbit mandibles.

Purpose: Bisphosphonates are used for inhibiting bone resorption in several diseases. In this experimental study, the effects of alendronate on the mandibular distraction gap in rabbits at 2 different rates were evaluated.

Materials And Methods: The study was performed using 15 New Zealand white rabbits.

Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

CHARGE syndrome and Kallmann syndrome (KS) are two distinct developmental disorders sharing overlapping features of impaired olfaction and hypogonadism. KS is a genetically heterogeneous disorder consisting of idiopathic hypogonadotropic hypogonadism (IHH) and anosmia, and is most commonly due to KAL1 or FGFR1 mutations. CHARGE syndrome, a multisystem autosomal-dominant disorder, is caused by CHD7 mutations.

Fetal pulse oximetry: correlation with intrapartum fetal heart rate patterns and neonatal outcome.

Aim: To determine how fetal pulse oximetry behaves in various cardiotocographic (CTG) tracings and correlates with neonatal outcome.

Patients And Methods: Pregnant women undergoing active labor with singleton pregnancies of 32-42 weeks were enrolled. CTG recordings were reassuring or nonreassuring (namely variable or persisting late decelerations).

A rare cause of ileus: invagination due to ectopic pancreas.

Introduction: Invagination is seen rarely as a cause of ileus in adults. The cause of invagination in children differs from that in adults. In adults it is mostly due to organic lesions (tumour).

Laparoendoscopic "rendezvous" versus laparoscopic antegrade sphincterotomy for choledocholithiasis.

Background: The ideal management of common bile duct stones in the era of laparoscopic cholecystectomy is controversial. With rapid advances in technology and more experience in laparoscopic skills, many surgeons are now routinely performing single-stage procedures and questioning the wisdom of preoperative endoscopic retrograde cholangiopancreotography, with or without sphincterotomy. The purpose of this study was to compare the success rate, duration of operating time, clinical results, and duration of hospital stay of a laparoendoscopic "rendezvous" technique versus antegrade sphincterotomy in patients with cholecystitis-choledocholithiasis.

Association of cytokine gene polymorphisms in CWP and its severity in Turkish coal workers.

Background: Cytokines appear to play a key role in some inflammatory reactions affecting the interactions among pro- and anti-inflammatory mechanisms that result in several diseases such as coal workers' pneumoconiosis (CWP). In this study, to determine the cytokine gene profiles of Turkish coal miners, we performed genotyping analysis to investigate the polymorphisms of CWP-related pro-inflammatory (TNFA, IL1A, IL1B, and IL6) and anti-inflammatory cytokines (IL-1RN and TGFB1). An additional goal was to observe whether these cytokine gene polymorphisms influence the development risk and severity of.

Results and complications of alveolar distraction osteogenesis to enhance vertical bone height.

Objective: The aim of this retrospective study was to analyze the outcome and complications of alveolar distraction osteogenesis for the correction of vertically deficient ridges by using intraosseous and extraosseous distractors.

Study Design: Seven patients with severely atrophic alveolar crests were treated by distraction osteogenesis in 5 alveolar ridge deficiencies by intraosseous distractors and in 2 alveolar ridge deficiencies by extraosseous distractors. The bone deficiencies were secondary to atrophy after periodontal disease, tooth extraction, or trauma.

Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia.

Homozygous mutations in the fibroblast growth factor 3 (FGF3) gene have recently been discovered in an autosomal recessive form of syndromic deafness characterized by complete labyrinthine aplasia (Michel aplasia), microtia, and microdontia (OMIM 610706 - LAMM). In order to better characterize the phenotypic spectrum associated with FGF3 mutations, we sequenced the FGF3 gene in 10 unrelated families in which probands had congenital deafness associated with various inner ear anomalies, including Michel aplasia, with or without tooth or external ear anomalies. FGF3 sequence changes were not found in eight unrelated probands with isolated inner ear anomalies or with a cochlear malformation along with auricle and tooth anomalies.

VEGF, COX-2, and PCNA expression in renal cell carcinoma subtypes and their prognostic value.

Objective: To evaluate the prognostic value of new markers such as VEGF (vascular endothelial growth factor), COX-2 (cyclooxygenase-2), and PCNA (proliferating cell nuclear antigen) and review their differences in expression by histological subtype in patients with renal cell carcinoma (RCC).

Methods: About 99 patients who underwent radical (n = 79) or partial nephrectomy (n = 20) were included in this study. Histopathological specimens from the subjects were retrospectively analyzed immunohistochemically for the presence of VEGF, COX-2, or PCNA.

Single nucleotide polymorphisms in the hypoxia-inducible factor-1alpha (HIF-1alpha) gene in human sporadic breast cancer.

Background: DNA sequence variations in hypoxia-inducible factor-1alpha (HIF-1alpha) gene, which have been demonstrated to be correlated with tumor angiogenesis, may yield changes both in the production outcomes and in the activities of the gene. In this study, we investigated the relationship between three single nucleotide polymorphisms (SNPs) [C1772T and G1790A in exon 12 and C111A in exon 2 of the HIF-1alpha gene] in the HIF-1alpha gene coding regions and development of sporadic breast cancer in the Turkish population. These three polymorphisms result in an amino acid change from proline 582 to serine, from alanine 588 to threonine and from serine 28 to tyrosine, respectively.

Expression of proliferating cell nuclear antigen in pulp cells of extracted immature teeth preserved in two different storage media.

A specially composed medium for storing avulsed teeth has been developed. In experimental and clinical studies it could be shown that PDL cells could be kept viable during storage in the medium for up to 53 h. In the present study the medium was tested on pulp cells.

Effects of rivastigmine on tremor and other motor symptoms in patients with Parkinson's disease dementia: a retrospective analysis of a double-blind trial and an open-label extension.

Background And Aim: Rivastigmine is now widely approved for the treatment of mild to moderately severe dementia in Parkinson's disease (PDD). However, since anticholinergic drugs have a role in the management of tremor in patients with Parkinson's disease (PD), concerns have been raised that the use of cholinergic drugs might worsen PD. The current analyses were performed to examine the potential of rivastigmine to affect tremor and other motor symptoms in patients with PDD.

Living donor liver transplantation for hepatitis B cirrhosis.

Background And Aim: Living donor liver transplantation (LDLT) has particular advantages for Turkey where hepatitis B virus (HBV) infection is the most common cause of cirrhosis, both because LDLT circumvents the difficulties encountered in the emerging world in providing deceased donor organs, and because it allows preemptive antiviral therapy. The aim of this study was to review one institution's experience with LDLT in patients with chronic HBV infection.

Methods: A total of 109 patients with chronic HBV infection underwent LDLT between September 1999 and June 2005, of whom 40 were coinfected with hepatitis D virus and 23 had hepatocellular carcinoma.