Evaluation of glycogen storage patients: Report of twelve novel variants and new clinical findings in a Turkish population

© 2021 by the authors. Licensee MDPI, Basel, Switzerland.Glycogen storage diseases (GSDs) are clinically and genetically heterogeneous disorders that disturb glycogen synthesis or utilization. Although it is one of the oldest inherited metabolic disorders, new genetic methods and long-time patient follow-ups provide us with unique insight into the genotype–phenotype correlations. The aim of this study was to share the phenotypic features and molecular diagnostic results that include new pathogenic variants in our GSD cases. Twenty-six GSD patients were evaluated retrospectively. Demographic data, initial laboratory and imaging features, and current findings of the patients were recorded. Molecular analysis results were classified as novel or previously defined variants. Novel variants were analyzed with pathogenicity prediction tools according to American College of Medical Genetics and Genomics (ACGM) criteria. Twelve novel and rare variants in six different genes were associated with the disease. Hearing impairment in two patients with GSD I, early peripheral neuropathy after liver transplantation in one patient with GSD IV, epilepsy and neuromotor retardation in three patients with GSD IXA were determined. We characterized a heterogeneous group of all diagnosed GSDs over a 5-year period in our institution, and identified novel variants and new clinical findings. It is still difficult to establish a genotype–phenotype correlation in GSDs

The Relationship of Serum S100B Levels with Infarction Size and Clinical Outcome in Acute Ischemic Stroke Patients

ABSTRACT Introduction: S100B protein, which helps nerve development and differentiation, is produced by astrocytes and can be detected in peripheral circulation after brain damage. In this study, we aimed to investigate the relationship between the serum S100B protein level and the infarction volume and clinical outcome and also the early prognostic role of serum S100B protein in patients with ischemic stroke

The Relationship of Serum S100B Levels with Infarction Size and Clinical Outcome in Acute Ischemic Stroke Patients

Introduction: S100B protein, which helps nerve development and differentiation, is produced by astrocytes and can be detected in peripheral circulation after brain damage. In this study, we aimed to investigate the relationship between the serum S100B protein level and the infarction volume and clinical outcome and also the early prognostic role of serum S100B protein in patients with ischemic stroke

The Relationship of Serum S100B Levels with Infarction Size and Clinical Outcome in Acute Ischemic Stroke Patients

Introduction: S100B protein, which helps nerve development and differentiation, is produced by astrocytes and can be detected in peripheral circulation after brain damage. In this study, we aimed to investigate the relationship between the serum S100B protein level and the infarction volume and clinical outcome and also the early prognostic role of serum S100B protein in patients with ischemic stroke

Diagnostic importance of S100A9 and S100A12 in breast cancer

Background: The most frequent cause of cancer deaths throughout the world is breast cancer (BC). Therefore, preventing, diagnosing and treating BC has gained importance. S100 protein probably plays an important role in carcinogenesis, cancer development, and metastasis. In this study, we aimed at diagnostic and clinic-pathological importance of serum levels of S100A9 and S100A12 with known cytokine-like pro-inflammatory effects in BC

Heat shock protein 70 is a useful marker for predicting colorectal cancer

Purpose: In colorectal cancer (CRC), as in most of other malignancies, heat shock proteins (HSPs) are overexpressed and are associated with apoptosis, cancer cell proliferation, differentiation, invasion, and metastasis. HSP70 is one of the HSPs and has a promising future in cancer studies for both diagnostic and therapeutic applications. In this study, we tried to evaluate the serum levels of HSP70 in CRC patients, and to evaluate its predictive value of detecting CRC

Do Low Serum 25-Hydroxyvitamin D Levels Affect Progression of Prediabetes to Type 2 Diabetes?

Objectives: This study aims to investigate 25-hydroxyvitamin D (25(OH) D) levels in patients with glucose and glycated hemoglobin (HbA1c) defined prediabetes and type 2 diabetes mellitus (T2DM)

The clinical efficiency of acupuncture in preventing migraine attacks and its effect on serotonin levels

Objectives: This study aims to investigate the efficacy of acupuncture in preventing migraine attacks