The First Case of Autosomal Recessive Cerebellar Ataxia with Prominent Paroxysmal Non-kinesigenic Dyskinesia Caused by a Truncating FGF14 Variant in a Turkish Patient.

Background: ATX-FGF/SCA27A has been exclusively associated with heterozygous variants in the FGF14 gene, presenting with postural tremor, slowly progressive cerebellar ataxia, and psychiatric and behavioral disturbances.

Objectives: This study describes the first case of ATX-FGF/SCA27A linked to a biallelic frameshift variant in the FGF14 gene.

Methods: Whole-exome sequencing (WES) was conducted using the Illumina NovaSeq 6000 platform, and the identified variant was confirmed using Sanger sequencing.

A Homozygous MYH1 Variant Underlies Autosomal Recessive Isolated Recurrent Rhabdomyolysis.

Rhabdomyolysis is a severe condition involving the breakdown of skeletal muscle fibers, leading to the release of muscle components into the bloodstream, which can lead to potential complications such as acute kidney injury and electrolyte imbalances. The etiology of rhabdomyolysis is multifactorial, encompassing traumatic, exertional, metabolic, infectious, toxic, and genetic causes. Genetic causes, including variants in LPIN1, RYR1, and CACNA1S, are increasingly recognized as significant contributors to recurrent rhabdomyolysis.

The effect of gonadotropin gap for non-growing follicles in poor ovarian response: Might this be a new strategy?

Objective: Cessation of gonadotropin stimulation might affect follicular growth in patients in POSEIDON groups 3 and 4, which are unresponsive to high-dose stimulation.

Materials And Methods: In this retrospective study, data were extracted from the medical records of patients treated at the Acıbadem Maslak Hospital Assisted Reproductive Technologies Unit between November 2010 and December 2020. Eighty-five patients who fulfilled the inclusion criteria were included in the study.

A comparative analysis of axial and appendicular skeletal maturity staging systems through assessment of longitudinal growth and curve modulation after VBT surgery.

Purpose: Appendicular skeleton markers are commonly used for maturity assessment for Adolescent Idiopathic Scoliosis (AIS) patients. Traditionally, Risser has been a standard skeletal maturity assessment method. More recently, Sanders classification (SSMS), as a more comprehensive system, became popular, especially in decision-making for Vertebral Body Tethering (VBT).

Apoptotic effect of thymoquinone on OVCAR3 cells via the P53 and CASP3 activation.

Purpose: The limitations in cancer treatment and the inadequacy of classical methods have made it necessary to discover therapeutics in cancer treatment. The cytotoxicity of thymoquinone, which has quite different properties in terms of biological activities, in ovarian cancer cells, and the changes in the expression levels of apoptotic genes (p53/caspase-3 (casp-3)) were investigated.

Methods: In the study, thymoquinone (5, 50, 100, 250 and 500 µM and 24, 48, 72 hours) were applied to ovarian adenocarcinoma cancer cell line (OVCAR3), at different concentrations.

Non-bacterial thrombotic endocarditis in long-standing primary hypoparathyroidism: A case report.

Non-bacterial thrombotic endocarditis is a rare condition characterized by the formation of thrombotic vegetations on heart valve leaflets, leading to valvular dysfunction, heart failure and thromboembolic events. It is known to be associated with other diseases and some cases remain undiagnosed or can be diagnosed in the postmortem analysis. Surgical excision of the mass may be necessary to prevent further embolic events and other complications.

The Importance of 18 F-FDG PET/CT in a Rare Case of Multiple Myeloma Presenting With Nasal Plasmacytoma.

Nasopharyngeal plasmacytoma is a rare presentation of multiple myeloma. We emphasize the importance of imaging by presenting the 18 F-FDG PET/CT findings of a patient with nasopharyngeal plasmacytoma and lytic hypermetabolic bone lesions.

The effect of degenerative scoliosis and spinopelvic parameters on dislocation of hip hemiarthroplasty.

Background: Degeneration of the spine may affect pelvic parameters and hip mobility. This study aimed to evaluate the effects of degenerative scoliosis and spinopelvic parameters on hip hemiarthroplasty dislocations.

Methods: A retrospective analysis was conducted on patients who underwent hemiarthroplasty for intracapsular hip fracture over a twenty-year period.

Comparing ovarian reserve parameters after laparoscopic endometrioma resection in the follicular vs. luteal phase: a prospective cohort study.

Objective: To evaluate whether performing laparoscopic endometrioma surgery in the follicular or luteal phase affects changes in ovarian reserve.

Methods: This prospective cohort study was conducted in a university-affiliated hospital. A total of 55 women who underwent unilateral laparoscopic endometrioma removal were included in the study.

Ceftazidime-Avibactam Versus Polymyxin-Based Combination Therapies: A Study on 30-Day Mortality in Carbapenem-Resistant Enterobacterales Bloodstream Infections in an OXA-48-Endemic Region.

: Ceftazidime-avibactam (CAZ-AVI) is recommended as first-line treatment for Oxacillinase-48 (OXA-48) β-Lactamase-producing carbapenem-resistant Enterobacterales (CRE) infections, while polymyxin-based combination therapies (PBCTs) are used as a last resort when CAZ-AVI is unavailable. Research comparing the effectiveness of CAZ-AVI and PBCT in CRE blood stream infections (CRE-BSIs) is limited, mostly focusing on carbapenemase (KPC)-producing isolates. In Turkey, OXA-48 is endemic and OXA-48-Like is common.

Effects of preconceptional vitamin D levels on in vitro fertilization outcomes in infertile patients with polycystic ovary syndrome: A retrospective cohort study.

Background: Vitamin D plays various roles in different stages of reproduction, and abnormalities in its levels are associated with diseases such as polycystic ovary syndrome (PCOS). This study aimed to determine the relationship between initial vitamin D levels and in vitro fertilization (IVF) outcomes in PCOS patients.

Methods: This retrospective cohort study included 1174 PCOS patients who consulted the Acıbadem Maslak Hospital IVF Clinic between January 2015 and March 2021.

The effect of intratesticular autologous platelet-rich plasma injection on sperm retrieval rates and in vitro fertilization outcomes in couples with non-obstructive azoospermia.

Aim: To assess the efficacy of intratesticular injection of autologous platelet-rich plasma (PRP) in men with non-obstructive azoospermia (NOA) and a history of failed microdissection-testicular sperm extraction (mTESE) procedures.

Methods: A prospective case series of a cohort study was conducted involving couples diagnosed with NOA. Patients with at least one failed mTESE procedure were included.