Copy number variations in patients with idiopathic recurrent pregnancy loss: an arrayCGH approach.

Background: It is not always possible to determine the causative basis of pregnancy losses and even today it has been reported that 50% of cases with recurrent pregnancy loss (RPL) have no reason to be detected. In our study, it is aimed to reveal the copy number variations (CNVs) of the genes which presumably have a potential effect in individuals with RPL and contribute to subsequent functional studies in the follow-up.

Methods: We retrospectively evaluated the array-comparative genomic hybridization (aCGH) data of cytogenetically 64 normal individuals (21 couples, 11 unrelated women, and 11 unrelated men) who had applied to our outpatient clinic from January 2016 to December 2017, for the history of idiopathic two or more RPL.

Visual Evoked Potentials in Patients With Vitamin B12 Deficiency.

Purpose: The aim of this study was to investigate the subclinical involvement of the optic nerve in asymptomatic patients with vitamin B12 deficiency using visual evoked potentials.

Methods: This study included 40 asymptomatic patients diagnosed with vitamin B12 deficiency (considered as serum levels below 150 pg/mL) and a control group of 40 healthy individuals. All participants underwent a visual evoked potential examination.

Electrode Fixation with Bone Cement or Stimloc® in Deep Brain Stimulation Surgery: A Comparative Study.

Aim: To examine the postoperative outcomes of electrode fixation using bone cement and Stimloc® in patients with Parkinson?s disease (PD) who underwent subthalamic nucleus (STN) deep brain stimulation (DBS).

Material And Methods: Between 2016 and 2018, permanent electrode fixation was performed in 30 patients with PD, of which 15 received bone cement and the remaining 15 received Stimloc®. Data regarding preoperative Unified Parkinson?s Disease Rating Scale (UPDRS) III scores, levodopa equivalent daily dose (LEDD) values, surgery duration, and the fixation technique used were recorded.

Subthalamic Nucleus Deep Brain Stimulation in a Patient with Severe Axial Symptoms and Suboptimal Levodopa Responsive Parkinson's Disease.

Aim: Deep brain stimulation (DBS) is a well-established treatment option for improving function and quality of life (QoL) in carefully selected patients with Parkinson?s disease (PD). Patient selection is a crucial step that should be performed by an experienced multidisciplinary team according to the proposed inclusion and exclusion criteria to increase the QoL of patients.

Case Report: A 47-year-old bedridden woman with a 20-year history of PD presented with levodopa-unresponsive tremor and severe axial symptoms.

Multicenter Validation of Individual Preoperative Motor Outcome Prediction for Deep Brain Stimulation in Parkinson's Disease.

Background: Subthalamic nucleus deep brain stimulation (STN DBS) is an established therapy for Parkinson's disease (PD) patients suffering from motor response fluctuations despite optimal medical treatment, or severe dopaminergic side effects. Despite careful clinical selection and surgical procedures, some patients do not benefit from STN DBS. Preoperative prediction models are suggested to better predict individual motor response after STN DBS.

Identification of a novel pathogenic variant in CKAP2L and literature review in a child with Filippi syndrome and congenital talipes equinovarus.

Filippi syndrome (MIM #272440), one of the craniodigital syndromes, is a rare genetic entity with autosomal recessive inheritance and characterized by pre- and postnatal growth retardation, microcephaly, distinctive facial appearance, developmental delay/intellectual disability, and variable syndactylies of the fingers and toes. In this report, a further female patient of Filippi syndrome who additionally had a unilateral congenital talipes equinovarus (CTEV), a feature not previously recorded, is described. Genetic testing revealed a novel homozygous frameshift pathogenic variant (c.

Effects of Deep Brain Stimulation of the Subthalamic Nucleus on the Postoperative Levodopa Response: One Year Follow Up.

Aim: To investigate the effect of preoperative levodopa responsiveness to clinical outcomes in the first postoperative year, and to evaluate the changes in the postoperative levodopa responsiveness in patients undergoing subthalamic nucleus (STN) deep brain stimulation (DBS).

Material And Methods: Forty-nine Parkinson?s Disease (PD) patients undergoing bilateral DBS of the STN were included in this study. Their clinical motor symptoms were assessed preoperatively by UPDRS Part III score in both OFF and ON medication states.

The Effect of Bitter Melon (Momordica charantia) Extract on the Uptake of Tc Labeled Paclitaxel: In Vitro Monitoring in Breast Cancer Cells.

Background: Bitter Melon Extract (BME) is widely used for the treatment of various diseases worldwide due to its rich phytochemical and antioxidant content. The well-known anti-cancer drug Paclitaxel (PAC) plays a major role in the treatment of various cancer types such as ovarian, breast, and lung cancer. Technetium-99m (99mTc) radiolabeled paclitaxel is emerging as an imaging probe for breast cancer in vivo.

A socio-ecological approach to improve industrial zones towards eco-industrial parks.

One of the concrete examples of industrial symbiosis development is eco-industrial parks, which improves resource efficiency and minimizes environmental impacts by adopting models for waste exchanges between industries. Despite past efforts, many industrial zones around the world are not yet considered as eco-industrial parks because of the low number (or total lack) of symbiotic relationships among industries. A promising strategy is to develop those existing industrial zones into eco-industrial parks.

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.

Arthrogryposis is a clinical finding that is present either as a feature of a neuromuscular condition or as part of a systemic disease in over 400 Mendelian conditions. The underlying molecular etiology remains largely unknown because of genetic and phenotypic heterogeneity. We applied exome sequencing (ES) in a cohort of 89 families with the clinical sign of arthrogryposis.

Microelectrode Recording for Deep Brain Stimulation of the Subthalamic Nucleus in Patients with Advanced Parkinson's Disease: Advantage or Loss of Time?

Aim: To investigate the effect of using microelectrode recording (MER) on the length of time required to carry out a deep brain stimulation (DBS) procedure of the subthalamic nucleus in patients with Parkinson's disease (PD).

Material And Methods: The time required to include MER in the DBS operation was calculated for the first and second sides in 24 patients with PD. The number of microelectrodes used on each trajectory for the first and second sides, and the percentage of permanent electrodes implanted on each trajectory for the first and second sides, were quantified.

Characterizing the Intraoperative Microelectrode Recording-Induced Microlesion Effect on Motor Symptoms in Patients with Parkinson's Disease Undergoing Deep Brain Stimulation of the Subthalamic Nucleus.

Aim: To investigate microelectrode recording (MER)-induced microlesion effect (MLE) on the motor symptoms of 30 patients with Parkinson’s disease (PD) who underwent deep brain stimulation of the subthalamic nucleus.

Material And Methods: MER-induced MLE was evaluated based on the difference between tremor, rigidity, and bradykinesia scores in the preoperative off-state and intraoperative state following MER and before test stimulation.

Results: MLE scores improved by 21.

Selenium Protects Retinal Cells from Cisplatin-Induced Alterations in Carbohydrate Residues.

Background: Investigate alterations in the expression and localization of carbohydrate units in rat retinal cells exposed to cisplatin toxicity.

Aims: The aim of the study was to evaluate putative protective effects of selenium on retinal cells subjected to cisplatin.

Study Design: Animal experiment.

Protective effect of 2-APB on testicular ischemia-reperfusion injury in rats.

Purpose: We performed biochemical and histopathological evaluations to assess the effects of 2-APB on ischemia-reperfusion induced testicular damage.

Materials And Methods: A total of 28 rats were randomly divided into 4 groups, including sham treated, ischemia-reperfusion, ischemia-reperfusion plus 2 mg/kg 2-APB and ischemia-reperfusion plus 4 mg/kg 2-APB. Testicular tissue superoxide dismutase, glutathione, malondialdehyde, total antioxidant capacity and DNA fragmentation levels were determined.

Ultrasonographic findings in hereditary neuropathy with liability to pressure palsies.

Objectives: The aims of this study were to evaluate the sonographic findings of patients with hereditary neuropathy with liability to pressure palsies (HNPP) and to examine the correlation between sonographic and electrophysiological findings.

Methods: Nine patients whose electrophysiological findings indicated HNPP and whose diagnosis was confirmed by genetic analysis were enrolled in the study. The median, ulnar, peroneal, and tibial nerves were evaluated by ultrasonography.

Inhibitory effect of sub-conjunctival tocilizumab on alkali burn induced corneal neovascularization in rats.

Background: To evaluate the effects of sub-conjunctivally applied interleukin-6 receptor (IL-6R) antibody (tocilizumab) on alkali burn induced corneal neovascularization (CNV) in rats.

Methods: Alkali burn induced corneal neovascularization was created in 24 right eyes of 24 rats. The rats were then randomized into 2 groups.

The protective effect of selenium in cisplatin-related retinotoxicity.

Purpose: The aim of this study is to evaluate the retinal toxicity of cisplatin and neuroprotective effect of selenium in cisplatin-related retinal toxicity.

Methods: Eighteen adult Wistar-Albino rats were divided into three groups. Group 1 (n = 6) received intraperitoneal (i.

Syncope associated with subthalamic nucleus deep brain stimulation in a patient with Parkinson's disease.

In advanced Parkinson's disease (PD), deep brain stimulation (DBS) may be an alternative option for the treatment of motor symptoms. Side effects associated with subthalamic nucleus (STN) DBS in patients with PD are emerging as the most frequent sensory and motor symptoms. DBS-related syncope is reported as extremely rare.

Volumetric analysis of the subthalamic and red nuclei based on magnetic resonance imaging in patients with Parkinson's disease.

Parkinson's disease (PD) is associated with degeneration of the dopaminergic neurons in the substantia nigra. The subthalamic nucleus (STN) plays a pivotal role in the pathogenesis. However, there is not much known about the morphological changes in the STN.