Association between fetal fraction of cell-free DNA and adverse pregnancy outcomes.

Purpose: To determine the association between fetal fraction (FF) levels in cell-free fetal DNA (cffDNA) testing and adverse pregnancy outcomes.

Methods: This retrospective cohort study, conducted at a single center, involved 2063 pregnant women with normal 1st and 2nd trimester non-invasive prenatal test (NIPT) results between 2016 and 2021. Pregnancy outcomes were examined by determining the  < 4% and  < 5th percentile (3.

Subacute THYROiditis Related to SARS-CoV-2 VAccine and Covid-19 (THYROVAC Study): A Multicenter Nationwide Study.

Context: The aims of the study are to compare characteristics of subacute thyroiditis (SAT) related to different etiologies, and to identify predictors of recurrence of SAT and incident hypothyroidism.

Methods: This nationwide, multicenter, retrospective cohort study included 53 endocrinology centers in Turkey. The study participants were divided into either COVID-19-related SAT (Cov-SAT), SARS-CoV-2 vaccine-related SAT (Vac-SAT), or control SAT (Cont-SAT) groups.

Transforming pharmaceutical education: A needs-based global analysis for policy development.

Background: A needs-based approach is desirable for the transformation of pharmaceutical education, and to link pharmaceutical education with the health needs of populations and national priorities. There are varying levels of data in the literature on the status of pharmaceutical education in all six World Health Organization (WHO) regions, especially in the context of needs identification and evidence-based policy interventions. The framework for this study was the FIP Development Goals.

Liquid biopsy markers for early diagnosis of brain metastasis patients with breast cancer by metabolomics.

Breast cancer is the most common cancer in women and is the second most common cause of cancer related mortality. Metabolomics, the identification of small metabolites, is a technique for determining the amount of these metabolites. This study aimed to identify markers for the early diagnosis of brain metastasis by metabolomic methods in breast cancer patients A total of 88 breast cancer patients with distant metastases were included in the study.

Experiences in the molecular genetic and histopathological evaluation of calpainopathies.

Calpainopathy is mainly characterized by symmetric and progressive weakness of proximal muscles. Several reports showed that the most common LGMD subtype is LGMDR1 or calpainopathy, which had previously been defined as LGMD2A. Until now, more than 500 likely pathogenic/pathogenic variants in the CAPN3 gene have been reported.

JAK2V617F, CALR and MPL515L/K mutations and plateletcrit in essential thrombocythemia: A single centre's experience.

Aims: JAK2V617F (JAK2), calreticulin (CALR) and MPL515L/K (MPL) mutations are important in essential thrombocythemia (ET) and may be associated with various clinical consequences of the disease. This study aimed to compare the clinical and haematological parameters of ET patients regarding the mentioned mutations and the role of plateletcrit (PCT).

Methods: Seventy patients who were diagnosed with ET between 2005 and 2017 in a single centre were included in this descriptive study.

Euglycemic Diabetic Ketoacidosis Associated with Empagliflozin Use in the Course of the SARS-Cov-2 Pandemic.

Sodium glucose cotransporter 2 (SGLT2) inhibitors are among the new generation oral anti-diabetic drugs that have started to be used in the treatment of type 2 diabetes mellitus. Although these drugs are highly beneficial, life-threatening side effects such as euglycemic diabetic ketoacidosis (eDKA) are reported with their use. In eDKA, metabolic acidosis and anion gap appear in blood gases and serum glucose in less than 200 mg/dl.

Investigating KRAS/BRAF mutation in oropharyngeal squamous cell carcinomas: a preliminary study.

Objectives: This study aims to investigate the role of KRAS/BRAF gene mutation in the pathogenesis of oropharyngeal squamous cell carcinoma (OSCC).

Patients And Methods: A total of 26 OSCC patients (23 males, 3 females; mean age 60 years; range 41 to 77 years) diagnosed between January 2003 and November 2013 were included in the study. The methods used in our study were quantitative fluorescence polymerase chain reaction for KRAS/BRAF mutation analysis.

Determination of HER2 and p53 Mutations by Sequence Analysis Method and EGFR/Chromosome 7 Gene Status by Fluorescence in Situ Hybridization for the Predilection of Targeted Therapy Modalities in Immunohistochemically Triple Negative Breast Carcinomas in Turkish Population.

Triple negative breast cancer (TNBC), an agressive subtype accounts nearly 15 % of all breast carcinomas. Conventional chemotherapy is the only treatment modality thus new, effective targeted therapy methods have been investigated. Epidermal growth factor receptor (EGFR) inhibitors give hope according to the recent studies results.

Blastoid variant mantle cell lymphoma with complex karyotype including 11q duplication.

We describe a case of blastoid mantle cell lymphoma with a complex karyotype. The blastoid variant is a rare type of non-Hodgkin lymphoma exhibiting an aggressive clinical course. Mantle cell lymphoma is a distinct entity of mature B-cell neoplasms genetically characterized by the presence of t(11;14).

Presence of matrix metalloproteinase-2 and tissue inhibitor matrix metalloproteinase-2 gene polymorphisms and immunohistochemical expressions in intracranial meningiomas.

Object: Meningiomas are benign extraaxial tumors with a slow progression. Some of them, in spite of being benign in nature, may show an aggressive progression pattern. To investigate the behavioral characteristics of meningiomas, researchers have studied matrix metalloproteinases (MMPs), their tissue inhibitors (TIMPs), interstitial collagens, proteins, vascular endothelial growth factors (VEGF), and tumor necrosis factors.

A comparison of muscle strength and endurance, exercise capacity, fatigue perception and quality of life in patients with chronic obstructive pulmonary disease and healthy subjects: a cross-sectional study.

Background: Chronic obstructive pulmonary disease (COPD) has significant systemic effects that substantially impact quality of life and survival. The purpose of this study was to assess and compare peripheral muscle strength and endurance, exercise capacity, fatigue perception and quality of life between patients with COPD and healthy subjects.

Methods: Twenty COPD patients (mean FEV1 49.

Methylation profile analysis of DNA repair genes in hepatocellular carcinoma with MS-MLPA.

Hepatocellular carcinoma (HCC) is one of the rare tumors with well-defined risk factors. The multifactorial etiology of HCC can be explained by its complex molecular pathogenesis. In the current study, the methylation status of 7 genes involved in DNA repair mechanisms, namely MLH1, PMS2, MSH6, MSH2, MGMT, MSH3, and MLH3, was investigated in tumor samples from HCC patients, using the methylation-specific-multiplex ligated probe amplification method and the results were correlated with available clinical findings.

Fluorescence in situ hybridization analysis of the hTERC region in acute myeloid leukemia patients.

Objective: The telomerase RNA component (hTERC) gene is located at 3q26. Increased hTERC gene expression has been frequently observed and amplification was shown using fluorescence in situ hybridization (FISH) in different cancers. The aim of this study was to determine whether hTERC gene amplification is detectable by FISH in acute myeloid leukemia (AML) cells.

First-trimester ultrasonography revealed a gestational sac featuring cystic spaces and no visible embryo: a case of trisomy 7.

Ultrasound examination in early pregnancy has steadily gained importance and is now routine for most women in the first trimester. The sonographic features of early trisomy 7 pregnancies are not well characterized. We present a case of trisomy 7 in which early pregnancy ultrasound revealed a gestational sac featuring cystic spaces and no visible embryo.

Chromosome heteromorphisms: an impact on infertility.

Introduction: Cytogenetic heteromorphisms are described as heritable variations at specific chromosomal regions without a proven impact on phenotype.

Materials And Methods: We compared the presence of chromosome heteromorphisms in the karyotypes of two patient groups. The first group of patients consisted of 276 individuals of 138 infertile couples.