Novel Βeta (β)-Thalassemia Mutation in Turkish Children.

Beta (β)-thalassemia is the most frequently observed hereditary blood disorder in the world. It is characterized by deficiency of hemoglobin β-globin gene and is also a profoundly heterogeneous both at the molecular and clinical level. In the case of β-thalassemia, there is reduced (β(+) type) or absent (β(o) type) synthesis of the beta chains of hemoglobin.

Chondroprotective effects of a new glucosamine combination in rats: Gene expression, biochemical and histopathological evaluation.

Aims: This study investigates the effect of a new combination of glucosamine hydrochloride, chondroitin sulfate, methylsulfonylmethane, Harpagophytum procumbens root extract (standardized to 3% harpagoside) and bromelain extract (GCMHB) on formalin-induced damage to cartilage tissue in the rat knee joint and evaluates this combination in comparison with another combination of glucosamine hydrochloride, chondroitin sulfate and methylsulfonylmethane (GKM).

Materials And Methods: Animals in the control group were injected with formalin into the knee joint (FCG). Animals in the GCMHB-500 group were given 500mg/kg GCMHB+formalin, and those in the GKM-500 group were given 500mg/kg GKM+formalin.

Vitamin D metabolic pathway genes and pancreatic cancer risk.

Evidence on the association between vitamin D status and pancreatic cancer risk is inconsistent. This inconsistency may be partially attributable to variation in vitamin D regulating genes. We selected 11 vitamin D-related genes (GC, DHCR7, CYP2R1, VDR, CYP27B1, CYP24A1, CYP27A1, RXRA, CRP2, CASR and CUBN) totaling 213 single nucleotide polymorphisms (SNPs), and examined associations with pancreatic adenocarcinoma.

Neutrophil/Lymphocyte Ratio Can Predict Postoperative Mortality in Patients with Chronic Thromboembolic Pulmonary Hypertension.

Objective: The aim of our study was to investigate clinical importance of neutrophil/ lymphocyte ratio in patients with Chronic thromboembolic pulmonary hypertension.

Methods: 125 consecutive patients with a diagnosis of Chronic thromboembolic pulmonary hypertension were operated pulmonary thromboendarterectomy in our center between February 2011 and August 2013. 106 patients included into the study due to limitations.

Genes, brains, and behavior: imaging genetics for neuropsychiatric disorders.

The majority of neuropsychiatric disorders show a strong degree of heritability, yet little is known about molecular factors involved in the pathophysiology of diseases like schizophrenia. After a brief historical introduction into the current understanding of neuropsychiatric disorders, the aim of this study is to discuss imaging genetics as a strategy to explore the pathophysiology of neuropsychiatric disorders. The candidate gene approach of imaging genetics is used for validation/replication studies of genes, whereas the hypothesis-free, noncandidate gene approach appears to be a tool for gene discovery.

Impact of Severe Tricuspid Regurgitation on Accuracy of Echocardiographic Pulmonary Artery Systolic Pressure Estimation.

Introduction: Transthoracic Doppler echocardiography (DE) is recommended for screening and monitorization of pulmonary arterial hypertension (PAH). However, some recent studies have suggested that Doppler echocardiographic pulmonary artery systolic pressure (PASP) estimates may frequently be inaccurate. Some hemodynamic and echocardiographic factors are known to contribute to discordant results.

A critical appraisal of the North American Spine Society guidelines with the Appraisal of Guidelines for Research and Evaluation II instrument.

Background Context: The North American Spine Society (NASS) publishes clinical guidelines that are taken into consideration worldwide by clinicians who have a special interest in spinal surgery. The Appraisal of Guidelines for Research and Evaluation (AGREE) II is the second version of the original AGREE instrument to assess the quality of guidelines in terms of development process. This appraisal aims to evaluate each individual NASS guideline using AGREE II tool to demonstrate its methodologic robust and weakness.

The role of the UTS2 gene polymorphisms and plasma Urotensin-II levels in breast cancer.

Breast cancer is the most common malignancy predominantly affecting women. To date, numerous numbers of studies were reported novel genetic contributors with diagnostic, prognostic, and therapeutic potential for the breast carcinogenesis. However, the role of urotensin-II in breast carcinogenesis has not been elucidated yet.

Evaluation of 28 cases of mucormycosis.

Mucormycosis is a rare but invasive fungal disease with high mortality. The present study aimed to retrospectively investigate the demographic characteristics, as well as the clinical, radiological and laboratory features and the results of treatment, in the patients followed in our hospital because of mucormycosis. The present study retrospectively evaluated 28 cases, which were followed in our hospital because of mucormycosis between January 2002 and July 2013.

Heterochromatin distribution and localization of nucleolar organizing regions in the 2n = 52 cytotypes of and from Turkey.

Background: The blind mole rats (Spalacinae) are fossorial rodents exhibiting exceptionally extensive variation in the karyotype. The taxonomy of this group is not definitively resolved, and the species discrimination is often not clear, even with the use of chromosomal analyses.

Results: We have studied the karyotype of three populations of blind mole rats (Spalacinae) from Anatolia classified tentatively as (Bolu and Içel provinces) and (Gaziantep province).

Polymorphisms in MMP-2 and TIMP-2 in Turkish patients with prostate cancer.

Aim: Prostate cancer is the most commonly diagnosed malignancy and the second most common cause of cancer deaths in the Western male population. Matrix metalloproteinases (MMPs) and tissue inhibitors of MMPs (TIMPs) modulate the remodeling of the extracellular matrix (ECM). The imbalance between MMPs and TIMPs may lead to an emergence of pathological processes such as cancer.

Herniation of the liver: an extremely rare entity.

We hereby present the case of a 75 years old female who was complaining of right upper quadrant abdominal pain. She had a history of cystectomy, cholecystectomy and choledochotomy operations for liver hydatid cyst 5 years ago. In addition, multiple endoscopic retrograde cholangiopancreatography sessions had been performed for recurrent biliary duct stones in the last 4 years.

Harnessing the p53-PUMA axis to overcome DNA damage resistance in renal cell carcinoma.

Resistance to DNA damage-induced apoptosis is a hallmark of cancer and a major cause of treatment failure and lethal disease outcome. A tumor entity that is largely resistant to DNA-damaging therapies including chemo- or radiotherapy is renal cell carcinoma (RCC). This study was designed to explore the underlying molecular mechanisms of DNA damage resistance in RCC to develop strategies to resensitize tumor cells to DNA damage-induced apoptosis.

The investigation of miR-221-3p and PAK1 gene expressions in breast cancer cell lines.

The most common malignancy in women is breast cancer. Drug resistance in the treatment of cancer still remains a major clinical concern. Resistance to tamoxifen is seen in half of the recurrences in breast cancer.

Functional outcomes of repair of Achilles tendon using a biological open surgical method.

Objective: The aim of this study was to evaluate the mid-term functional outcomes of ankles following biological open Achilles tendon repair and early postoperative mobilization.

Methods: The study retrospectively evaluated 22 male patients who underwent one-sided biological open Achilles tendon repair. The American Orthopaedic Foot and Ankle Society (AOFAS) hindfoot score, isokinetic muscle strength and endurance tests and active angle reproduction test at 15° of dorsiflexion and 20° of plantarflexion of the injured and uninjured sides were measured and compared.

Comparison of superior septal approach with left atriotomy in mitral valve surgery.

Objective: In this study, we aimed to compare clinical outcomes of superior transseptal approach with the conventional left atriotomy in patients undergoing mitral valve surgery.

Methods: Between January 2010 and November 2012, a total of 91 consecutive adult patients (39 males, 52 females; mean age: 54.0±15.

Loss of heterozygosity of chromosome 13q33-34 region and molecular analysis of ING1 and p53 genes in bladder carcinoma.

Cancer is a consequence of accumulation of genetic and epigenetic alterations in the cell which can lead to activation of oncogenes or inactivation of tumor suppressor genes (TSG). Since members of ING family were discovered as TSGs in different cancer types, it was aimed to analyze the chromosome 13q33-34 region, ING1 and p53 genes in bladder cancer. 30 paired normal and tumor tissues were investigated in terms of microdeletion of chromosome 13q33-34 region, ING1 expression and mutation status of ING1 and p53 genes.

The association of the expression of miR-122-5p and its target ADAM10 with human breast cancer.

MicroRNAs can regulate many biological functions. miR-122-5p has a tumor suppressor function through different molecular pathways. Also, our second hit, ADAM10, targeted by miR-122-5p, is a major determinant of HER2 shedding causing that trastuzumab cannot bind to HER2 receptors.

Characteristics of childhood glial tumors, management approaches and life expectancy of the patients.

Purpose: To evaluate the clinical characteristics, management approaches and life expectancy in pediatric patients with neuroepithelial glial tumors except ependymal tumors.

Methods: Between January 2003 and August 2008, 48 patients (30 boys, 18 girls; mean age: 10.9 ± 4.

Cytoplasmic domain of δ subunit is important for the extra-synaptic targeting of GABAA receptor subtypes.

GABA(A) receptors (GABA(A)Rs) are hetero-pentameric chloride channels and the primary sites for fast synaptic inhibition. We have expressed recombinant γ2 and δ subunits of GABA(A)Rs in cultured hippocampal neurons to analyze the membrane targeting of synaptic and extra-synaptic GABA(A)Rs, a phenomenon not well understood. Our data demonstrate that the synaptic targeting of γ2-containing GABA(A)Rs (γ2-GABA(A)Rs) does not depend on the cytoplasmic loop of γ2 subunit, in parallel with previous findings, showing that the synaptic localization of γ2-GABA(A)Rs requires the TM4 domain of γ2 rather than the large cytoplasmic loop.

Right ventricular mass: intracardiac ectopic thyroid tissue: a case report.

Ectopic thyroid tissue is a result of abnormal migration of thyroid tissue during the embryonic state. Most of these rare cases, almost 90% of them, are located in the base of the tongue and a minority of them is located anteriorly near the hyoid bone area. Below we report the case of a young patient with an intracardiac mass first diagnosed with three-dimensional echocardiography and afterward successfully treated surgically.

Complexity of lower extremity peripheral artery disease reflects the complexity of coronary artery disease.

We investigated the relationship between peripheral artery disease complexity and coronary artery disease complexity in patients with peripheral artery disease. A total of 449 patients were enrolled. SYNTAX score, a marker of coronary artery disease complexity, was assessed by dedicated computer software and complexity of peripheral artery disease was determined by Trans Atlantic Inter-Society Consensus II classification.