Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.

Developmental and epileptic encephalopathies (DEEs) feature altered brain development, developmental delay and seizures, with seizures exacerbating developmental delay. Here we identify a cohort with biallelic variants in DENND5A, encoding a membrane trafficking protein, and develop animal models with phenotypes like the human syndrome. We demonstrate that DENND5A interacts with Pals1/MUPP1, components of the Crumbs apical polarity complex required for symmetrical division of neural progenitor cells.

Loss of symmetric cell division of apical neural progenitors drives -related developmental and epileptic encephalopathy.

Developmental and epileptic encephalopathies (DEEs) are a heterogenous group of epilepsies in which altered brain development leads to developmental delay and seizures, with the epileptic activity further negatively impacting neurodevelopment. Identifying the underlying cause of DEEs is essential for progress toward precision therapies. Here we describe a group of individuals with biallelic variants in and determine that variant type is correlated with disease severity.

Predictive features of pre-operative computed tomography and magnetic resonance imaging for advanced disease in renal cell carcinoma.

Objective: We evaluated predictive features of pre-operative computed tomography and magnetic resonance imaging for advanced disease in renal cell carcinoma.

Materials And Methods: 92 patients with pathologically confirmed diagnosis of renal cell carcinoma were included in our study. Patients were divided into two groups according to preoperative imaging as computed tomography (CT) (55 patients) and magnetic resonance imaging (MRI) (37 patients).

The value of LH supplementation in young women with diminished ovarian reserve treated with GnRH Antagonist Protocol for ovarian hyperstimulation in ICSI-cycles.

Objectives: To compare the success of two controlled ovarian hyperstimulation protocols; rFSH + hp-hMG with only rFSH in the GnRH antagonist protocol in diminished ovarian reserve under 35 years of age.

Material And Methods: Data from January 2015 to June 2019 were abstracted from the hospital records of IVF Clinic. The women younger than 35 years of age who were diagnosed as diminished ovarian reserve and underwent standard GnRH antagonist protocol were included.

Evaluation of embryo transfer through a scoring system: ETSS (Embryo transfer scoring system).

Introduction: To create a scoring system by including all of the factors that are recommended for an ideal ET and to investigate its correlation with the Β-HCG results.

Materials And Methods: This study was conducted as a retrospective trial between January 2009 and December 2018. Women who had a single ET between the specified dates were included in the study.

The effect of plastic bottled water consumption on outcomes of ICSI cycles undertaken for unexplained infertility.

Research Question: Do bisphenol A (BPA) levels in maternal urine, serum and follicular fluid affect embryo quality and intracytoplasmic sperm hinjection (ICSI) cycle outcomes in women with unexplained infertility?

Design: Prospective study conducted between 1 April 2019 and 30 September 2019. The study cohort consisted of 82 women aged between 23 and 33 years who underwent intracytoplasmic sperm injection owing to unexplained infertility and provided urine, blood and follicular fluid samples on the day of oocyte retrieval. Consumption of drinking water from plastic carboys or bottles at home were considered as chronic BPA exposure.

Low transcriptional activity of PON2 in recurrent abortion: A novel therapeutic agent?

Objective: Oxidative stress has been reported to be associated with various pregnancy complications and to play key roles in many of them. An inadequate level of antioxidant defense may eventually lead to an early pregnancy loss. There is a lack of information about the roles of the PON2 and PON3 enzymes in the etiology of the cases of unexplained recurrent abortus.

Different presentations of cow`s milk protein allergy during neonatal period.

Aktaş S, Ergenekon E, Ünal S, Türkyılmaz C, Hirfanoğlu İM, Atalay Y. Different presentations of Cow's milk protein allergy during neonatal period. Turk J Pediatr 2017; 59: 322-328.

Better knowledge and regular vaccination practices correlate well with higher seasonal influenza vaccine uptake in people at risk: Promising survey results from a university outpatient clinic.

Background: The knowledge, beliefs, opinions, and attitudes of patients and their relatives regarding seasonal influenza vaccination were evaluated.

Methods: This descriptive study was undertaken in the outpatient clinics of Baskent University Hospital. There were 566 responders who completed a self-administered questionnaire.

Echocardiography may cause significant pain response in preterm infants.

Objective: The objective of this study is to evaluate if echocardiographic examination causes any pain response in term and preterm infants.

Methods: Term and preterm neonates who admitted to Neonatal Intensive Care Unit at Gazi University Hospital and Etlik Zubeyde Hanim Training and Research Hospital and were performed echocardiography for any reason were included into the study. Neonates were evaluated before, during and 10 minutes after the examination.

The effect of anxiety and depression scores of couples who underwent assisted reproductive techniques on the pregnancy outcomes.

Objective: The aim of this study was to determine the effect of anxiety and depression scores of couples who underwent Assisted Reproductive Techniques (ART) on pregnancy outcomes.

Method: This study was conducted as a prospective and comparative study with 217 couples. The study data was collected by using a semi-structured questionnaire and the Turkish version of the State-Trait Anxiety Inventory (STAI), and Beck Depression Inventory (BDI).

Idiopathic bilateral bloody tearing.

Bloody tear is a rare and distinct clinic phenomenon. We report a case presenting with the complaint of recurrent episodes of bilateral bloody tearing. A 16-year-old girl presented to our clinic with complaint of bloody tearing in both eyes for 3 months.

Xylitol and its usage in ENT practice.

Background: Xylitol is a five-carbon sugar alcohol. Natural sources of xylitol include plums, strawberries and raspberries. Xylitol is commercially available in chewing gums, lozenges, syrups, nasal sprays, toothpastes, mouthwashes and other products in some countries.