Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database.

The last decade has proven that amyotrophic lateral sclerosis (ALS) is clinically and genetically heterogeneous, and that the genetic component in sporadic cases might be stronger than expected. This study investigates 1,200 patients to revisit ALS in the ethnically heterogeneous yet inbred Turkish population. Familial ALS (fALS) accounts for 20% of our cases.

Comparative in vitro activity of plazomicin and older aminoglyosides against Enterobacterales isolates; prevalence of aminoglycoside modifying enzymes and 16S rRNA methyltransferases.

Comparative in vitro activity of plazomicin and 4 older aminoglycosides was evaluated with broth microdilution in 714 blood isolates from 14 hospitals in Turkey. Isolates included Escherichia coli (n=320), Klebsiella spp. (n=294), Enterobacter spp.

Engineered formate dehydrogenase from Chaetomium thermophilum, a promising enzymatic solution for biotechnical CO fixation.

Objectives: Formate dehydrogenases (FDHs) are NAD(P)H-dependent enzymes that catalyse the reversible oxidation of formate to CO. The main goal was to use directed evolution to obtain variants of the FDH from Chaetomium thermophilum (CtFDH) with enhanced reduction activity in the conversion of CO into formic acid.

Results: Four libraries were constructed targeting five residues in the active site.

Coronavirus Disease 2019 (COVID-19) From the Point of View of Neurologists: Observation of Neurological Findings and Symptoms During the Combat Against a Pandemic.

Some respiratory viruses have long been known to cause neurological involvement. A novel coronavirus, leading to severe acute respiratory syndrome, also called coronavirus disease 19 (COVID-19), seems to be a new member of neuroinvasive viruses. While severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) keeps on spreading around the world rapidly, reports about the neurological manifestations associated with SARS-CoV-2, increases day by day.

CD4 T Cells of Myasthenia Gravis Patients Are Characterized by Increased IL-21, IL-4, and IL-17A Productions and Higher Presence of PD-1 and ICOS.

Myasthenia gravis (MG) is an autoimmune disease mediated by autoantibodies predominantly against the acetylcholine receptor (AChR). Specific T cell subsets are required for long-term antibody responses, and cytokines secreted mainly from CD4 T cells regulate B cell antibody production. The aim of this study was to assess the differences in the cytokine expressions of CD4 T cells in MG patients with AChR antibodies (AChR-MG) and the effect of immunosuppressive (IS) therapy on cytokine activity and to test these findings also in MG patients without detectable antibodies (SN-MG).

Nivolumab for relapsed or refractory Hodgkin lymphoma: real-life experience.

Classical Hodgkin lymphoma (cHL) is considered a curable disease; however, in approximately one-third of the responding patients, the disease relapses following completion of therapy. One of the drugs that have been approved for the treatment of relapsed/refractory cHL is nivolumab, an immune check point inhibitor that shows its effects by blocking the programmed death 1 (PD-1) receptor. In this study, we present a retrospective "real-life" analysis of the usage of nivolumab in patients with relapsed/refractory cHL that have joined the named patient program (NPP) for nivolumab, reflecting 4 years of experience in the treatment of relapsed/refractory cHL.

In vitro susceptibility of OXA-48, NDM, VIM and IMP enzyme- producing Klebsiella spp. and Escherichia coli to fosfomycin.

Introduction: Infections caused by Carbapenemase-producing Enterobacterales (CPE) are an important public health issue. Intravenous fosfomycin can be considered as an alternative for the treatment of serious infections caused by CPE. In this study, in vitro activity of fosfomycin was investigated among CPE isolates.

Novel variants in Turkish patients with glycogen storage disease.

Background: Glycogen storage diseases (GSD) are disorders of autosomal recessive carbohydrate metabolism, characterized by glycogen accumulation. The liver and muscle tissue are commonly affected but patients may present with different clinical manifestations. The presence of glycogen can be demonstrated in biopsies and definitive diagnosis can be made by enzymatic or molecular analysis.

Low-dose low-molecular-weight heparin prophylaxis against obstetrical complications in pregnancies with metabolic and immunological disorder-associated placental inflammation.

Objective: We investigated the importance of prophylactic administration of low-dose low-molecular-weight heparin (LMWH) in women with risk factors associated with placental inflammation.

Materials And Methods: This retrospective cohort study included 300 pregnant women with a singleton pregnancy (30 primigravidas and 270 multigravidas) who received prophylactic low-dose LMWH to prevent placental inflammation. Based on maternal risk factors, patients were categorized into 3 groups as follows: Group 1: Patients with metabolic risk factors for placental inflammation ( = 205), Group 2: Patients with immunological risk factors for placental inflammation ( = 42), Group 3: Patients with metabolic and immunological risk factors for placental inflammation ( = 53).

The changing resistance patterns of bacterial uropathogens in children.

Background: Increased antimicrobial resistance is a problem in managing urinary tract infections (UTI). With this study we assessed the resistance patterns of urinary isolates in children with UTI between January 2017 and January 2018.

Methods: A retrospective cohort study was conducted.

Analysis of forensic genetic parameters of 22 autosomal STR markers (PowerPlex® Fusion System) in a population sample from Bosnia and Herzegovina.

Bosnia and Herzegovina is a multinational and multireligious country, located in the western part of the Balkan Peninsula. Migrations through history were a key factor in the genetic identity of the Bosnian-Herzegovinian population. To analyse genetic polymorphisms of 22 autosomal short tandem repeat (STR) loci in the population of Bosnia and Herzegovina and to compare STR allele frequencies for STR loci with the reference data for European populations.

Thymoquinone Glucuronide Conjugated Magnetic Nanoparticle for Bimodal Imaging and Treatment of Cancer as a Novel Theranostic Platform.

Background: Theranostic oncology combines therapy and diagnosis and is a new field of medicine that specifically targets the disease by using targeted molecules to destroy the cancerous cells without damaging the surrounding healthy tissues.

Objective: We aimed to develop a tool that exploits enzymatic TQ release from glucuronide (G) for the imaging and treatment of lung cancer. We added magnetic nanoparticles (MNP) to enable magnetic hyperthermia and MRI, as well as 131I to enable SPECT imaging and radionuclide therapy.

Analysis of pre-chemotherapy WBC, PLT, monocyte, hemoglobin, and MPV levels in acute myeloid leukemia patients with WT1, FLT3, or NPM gene mutations.

Effects of mutations on AML (acute myeloid leukemia) patients have been an area of clinical interest. The aim of this study was to analyze pre-chemotherapy WBC (white blood cell), platelet, monocyte, hemoglobin, and mean platelet volume (MPV) levels in acute myeloid leukemia patients with Wilms tumor 1 (WT1), FMS-like tyrosine kinase 3 (FLT3), or nucleophosmin (NPM) gene mutations, attempting to detect and compare possible differences in these values.The study included 71 patients with acute myeloid leukemia known to have WT1, FLT3, or NPM gene mutations.

The relationship between serum asymmetric dimethylarginine levels and radial artery spasm.

Objective: The use of the radial approach in coronary angiography or percutaneous coronary intervention has increased owing to its advantages over the femoral approach such as rapid patient mobilization and improved patient comfort. However, radial artery spasm (RAS) that occurs during the procedure is a crucial factor in transradial approach failure and access site switch. Asymmetric dimethylarginine (ADMA) is a naturally occurring, modified amino acid that inhibits nitric oxide (NO) production.

Renal function and the oxidative status among children with thalassemia major and healthy controls: A cross-sectional study.

Background: Renal dysfunction is an underestimated complication of thalassemia major.

Objectives: The aim of this study is to compare the glomerular and tubular functions in children with β- Thalassemia major (β- TM) with healthy controls and assess the oxidative stress caused by high ferritin levels.

Design And Setting: This prospective cross-sectional study was conducted in tertiary care hospital.

The Effectiveness of Sirolimus Treatment in Two Rare Disorders with Nonketotic Hypoinsulinemic Hypoglycemia: The Role of mTOR Pathway.

Nonketotic-hypoinsulinemic hypoglycemia (NkHH) is a very rare problem charcterized by increase in glucose consumption without hyperinsulinism. This disorder has mainly been reported in cases with mutation and rarely in cases with mutation. In cases with or mutation, there is no effective therapy other than frequent feeding to counter hypoglycemia.

Concerns of Pregnant Women in "Prenatal Screening/Diagnosis" Practice and Termination of Pregnancy.

Objective: To investigate the reasons for decision-making and concerns of patients in the field of prenatal screening, invasive prenatal diagnostic testing (IPDT), and termination of pregnancy (TOP).

Study Design: This questionnaire-based study consisted of 107 pregnant women who were referred for prenatal screening to the Hacettepe University Hospital. The questionnaire given to patients was prepared from scratch since there is no standard set of questions measuring patients' feelings and concerns regarding prenatal screening/diagnosis, IPDT, and TOP.

Neurofibromin Is an Estrogen Receptor-α Transcriptional Co-repressor in Breast Cancer.

We report that neurofibromin, a tumor suppressor and Ras-GAP (GTPase-activating protein), is also an estrogen receptor-α (ER) transcriptional co-repressor through leucine/isoleucine-rich motifs that are functionally independent of GAP activity. GAP activity, in turn, does not affect ER binding. Consequently, neurofibromin depletion causes estradiol hypersensitivity and tamoxifen agonism, explaining the poor prognosis associated with neurofibromin loss in endocrine therapy-treated ER breast cancer.

Infiltration of bupivacaine into the preperitoneal space and trocar incisions of patients undergoing laparoscopic totally extraperitoneal repair of unilateral inguinal hernia: a prospective randomized controlled observational study.

Introduction: Although laparoscopic repair of inguinal hernia is associated with reduced postoperative pain, it is not entirely painless. In addition to reducing the need for analgesic medication, postoperative complications, and hospitalization, postoperative pain control enables early return to normal activity.

Aim: To evaluate the efficacy of bupivacaine instilled into the pre-peritoneal space and trocar incisions of patients undergoing laparoscopic totally extraperitoneal (TEP) repair of inguinal hernia.

Heart rate variability in juvenile systemic lupus erythematosus patients.

Başaran Ö, Çetin İİ, Aydın F, Uncu N, Çakar N, Ekici F, Çelikel Acar B. Heart rate variability in juvenile systemic lupus erythematosus patients. Turk J Pediatr 2019; 61: 733-740.

The Prognostic Value of F-FDG PET/CT and KRAS Mutation in Colorectal Cancers.

Objective: Prognostic effect of KRAS mutation and side of tumor in colorectal cancer is a highly controversial subject. Therefore, we evaluated the association between FDG uptake pattern in F-fluoro-2-deoxy-glucose positron emission tomography/computed tomography (F-FDG PET/CT) imaging and KRAS mutation and tumor localization in patients with a diagnosis of colon cancer and assessed the effects of these three factors on prognosis and survival.

Methods: Eighty-three patients with colorectal cancer were retrospectively included in this study.

Inferior prognosis in poor mobilizing myeloma patients.

Introduction: Induction treatment followed by autologous stem cell transplantation (ASCT) has been accepted as the standard treatment for multiple myeloma (MM) patients. Granulocyte colony stimulating agent (G-CSF), chemotherapy or agents likes plerixafor are being used for the mobilization of stem cells from bone marrow. In this study, we evaluated the impact of the mobilization methods on the outcome of MM patients after ASCT.

Ratio of Fabry disease in patients with idiopathic left ventricular hypertrophy: A single-center study in Turkey.

Objective: Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism which arises due to deficient or absent activity of lysosomal α-galactosidase A (α-Gal A). This may be associated with increased left ventricular (LV) wall thickness and may mimic the morphological features of hypertrophic cardiomyopathy. The purpose of this study was to define the ratio of occurrence of FD to the manifestation of unexplained left ventricular hypertrophy (LVH).

The effect of serum vitamin B12, folate, ferritin levels and transferrin saturation on stem cell mobilization in allogeneic donors.

Introduction: Peripheric blood derived stem cells are used in 75 % of allogeneic stem cell transplantations. Iron, vitamin B12 and folate involve in hematopoiesis. Therefore serum levels of iron, vitamin B12 and folat may effect stem cell mobilization.