EEFSEC deficiency: A selenopathy with early-onset neurodegeneration.

Inborn errors of selenoprotein expression arise from deleterious variants in genes encoding selenoproteins or selenoprotein biosynthetic factors, some of which are associated with neurodegenerative disorders. This study shows that bi-allelic selenocysteine tRNA-specific eukaryotic elongation factor (EEFSEC) variants cause selenoprotein deficiency, leading to progressive neurodegeneration. EEFSEC deficiency, an autosomal recessive disorder, manifests with global developmental delay, progressive spasticity, ataxia, and seizures.

The relationship between smoking and clinical outcome in ischemic stroke patients undergoing reperfusion therapy.

Background: It has been suggested that smokers have higher recanalization rate, lower risk of cerebral hemorrhage and better prognosis than non-smokers (smoking paradox) after reperfusion therapy in patients with acute ischemic stroke (IS). This study aimed to assess the effects of smoking on recanalization, intracranial hemorrhage, and clinical outcomes in patients with acute IS following reperfusion therapy.

Methods: Patients were categorized into smokers and non-smokers, with data collected on types of reperfusion therapy, demographics, medication use, comorbidities, stroke etiology, mRS and NIHSS scores, TICI and ECASS classifications.

Can the severity of erectile dysfunction be predicted by the change in plasma viscosity.

Background: We aimed to contribute to the literature by exploring the possible relationship of PV with erectile dysfunction (ED), as in atherosclerosis-based vascular diseases.

Methods: Between October 2021 and December 2022, 99 patients who applied to the urology polyclinic with a complaint of ED were included in the study (Group 1). Fifty-two patients who applied with a complaint other than ED constituted the control group (Group 2).

Examination of immunohistochemical of the effects of flattened and unflattened radiotherapy beams in nude mice breast cancer xenografts.

Purpose: The aim of this study was to investigate the radiobiological effects underlying the inhibition of breast cancer (BCa) following radiotherapy in nude mice models, and to evaluate the impact of changes in immunohistochemical parameters induced by FF and FFF beams.

Materials And Methods: The study included thirty-six adult nude mouse models, which were randomly assigned to five groups: control (G1), breast cancer (BCa) (G2), FF-400 MU/min (G3), FFF-1100 MU/min (G4), and FFF-1800 MU/min (G5). The control group received neither radiation nor treatment, while the BCa group had a cancer model without radiation.

De-Escalation of Nodal Surgery in Clinically Node-Positive Breast Cancer.

Importance: Increasing evidence supports the oncologic safety of de-escalating axillary surgery for patients with breast cancer after neoadjuvant chemotherapy (NAC).

Objective: To evaluate the oncologic outcomes of de-escalating axillary surgery among patients with clinically node (cN)-positive breast cancer and patients whose disease became cN negative after NAC (ycN negative).

Design, Setting, And Participants: In the NEOSENTITURK MF-1803 prospective cohort registry trial, patients from 37 centers with cT1-4N1-3M0 disease treated with sentinel lymph node biopsy (SLNB) or targeted axillary dissection (TAD) alone or with ypN-negative or ypN-positive disease after NAC were recruited between February 15, 2019, and January 1, 2023, and evaluated.

[Genomic Characterization of SARS-CoV-2 Isolates Obtained from Antalya, Türkiye].

As the number of coronavirus diseases-2019 (COVID-19) cases have decreased and measures have started to be implemented at an individual level rather than in the form of social restrictions, severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) still maintains its importance and has already taken its place in the spectrum of agents investigated in multiplex molecular test panels for respiratory tract infections in routine diagnostic use. In this study, we aimed to present mutation analysis and clade distribution of whole genome sequences from randomly selected samples that tested positive with SARS-CoV-2 specific real-time reverse transcription polymerase chain reaction (rRT-PCR) test at different periods of the pandemic in our laboratory with a commercial easy-to-use kit designed for next-generation sequencing systems. A total of 84 nasopharyngeal/oropharyngeal swab samples of COVID-19 suspected patients which were sent for routine diagnosis to the medical microbiology laboratory and detected as SARSCoV-2 RNA positive with rRT-PCR were randomly selected from different periods for sequence analysis.

[Investigation of Resistance Nodulation Division (RND) Efflux Pump and OPRD Expression Levels in Antibiotic Resistance of Clinical Pseudomonas aeruginosa Isolates].

The increasing antibiotic resistance in Pseudomonas aeruginosa, responsible for both community-acquired and hospital-acquired infections, is of global significance. The primary mechanisms contributing to resistance development in P.aeruginosa include the increased activity of efflux pumps, decreased permeability of outer membrane porins and the production of carbapenemases.

[Multicentric Screening of Local Antibiotic Resistance in Uncomplicated Urinary System Infections: 1850 Patients from 37 Centers].

This study was aimed to identify the most frequently observed pathogens in uncomplicated urinary tract infections from outpatient urinary isolates obtained across seven different geographical regions in Türkiye and to determine whether the antibiotic resistance rates of these pathogens differ significantly between these regions. The study included patients aged 18 to 65 years who were diagnosed with uncomplicated urinary tract infections and had positive urine cultures from March 2021 to August 2022, across 37 different centers in Türkiye. The participating centers were selected based on their use of the disk diffusion method, in line with the European Committee on Antimicrobial Susceptibility Testing (EUCAST) guidelines, to ensure standardization of urine culture data.

Nd:YAG Laser Application for the Treatment of Retained Lens Fragment in the Anterior Chamber Following Cataract Surgery.

Cataract surgery is the most frequently performed surgery worldwide. Although it is an effective surgical treatment option for improving patients' visual acuity, various complications can occur postoperatively. One such complication is the presence of retained lens material in the anterior chamber, which can lead to intraocular inflammation, increased intraocular pressure, corneal edema, and endothelial cell loss.

The Efficacy of Adalimumab Treatment in Pediatric Non-Infectious Uveitis: A Retrospective Cohort Study.

Objectives: To evaluate the clinical features of pediatric non-infectious uveitis (NIU) patients treated with adalimumab (ADA) and the efficacy of ADA in patients unresponsive to conventional immunosuppressive therapy.

Materials And Methods: The records of 91 NIU patients aged ≤16 years who received ADA therapy were evaluated retrospectively. The patients' demographic and clinical characteristics and treatment approaches were recorded.

Evaluation of current patient-based real-time quality control in clinical chemistry testing.

Introduction: To perform simulation studies on patient-based real-time quality control (PBRTQC) for aspartate aminotransferase (AST), iron (Fe), potassium (K), and thyrotropin (thyroid stimulating hormone, TSH) analytes, focusing on optimizing systematic error detection while minimizing data loss.

Methods: Clinical laboratory data for the four analytes were analyzed using various truncation methods. Among these methods, truncation limits corresponding to fixed percentiles (e.

The effect of telephone-assisted breastfeeding monitoring on physiological jaundice, exclusive breastfeeding in the first six months, development of colic, and breastfeeding self-efficacy: A randomized controlled trial.

This randomized controlled study was conducted to evaluate the effects of telephone-assisted breastfeeding monitoring on physiological jaundice, exclusive breastfeeding in the first six months, colic, breastfeeding success, and breastfeeding self-efficacy. Breastfeeding and infant care training were given to pregnant women by video calls (N = 54). Video call counseling was provided to the mothers in the intervention group (n = 27) every day for the first week after discharge and weekly until the 24th week, and the control group (n = 27) was only telephone called in follow-up weeks.

The psychometric properties of the Four Square Step Test in older adults with mild cognitive impairment.

Purpose: The study aimed to determine the test-retest, interrater, and minimum detectable change, concurrent and known-groups validity in older adults with mild cognitive impairment. Minimal detectable change values are the degree of change needed to exceed a measurement's error within a confidence limit.

Methods: A total of 46 older adults with mild cognitive impairment and 34 healthy controls were included.

Comparison of the efficacy of treatment with clobetasol propionate or bexarotene in early-stage mycosis fungoides.

Background: There are few studies in the literature comparing the effectiveness of topical treatments in early-stage mycosis fungoides (MF).

Objectives: It was aimed to evaluate the clinical efficacy, side effects and topical treatment compliance with bexarotene or clobetasol propionate in early-stage MF.

Methods: A total of 40 patients with stage IA-IB MF were enrolled in the study.

Increased ferritin with contraceptives containing ethinyl estradiol drospirenone in polycystic ovary syndrome: a paradox of iron storage and iron deficiency.

Objectives: The relationship between elevated ferritin levels and metabolic abnormalities in PCOS patients, and whether ferritin is a cause or a consequence, is still debated. This study aimed to evaluate the impacts of the fourth generation combined oral contraceptive containing ethinyl estradiol/drospirenone (EE 30 mcg/DRSP 3 mg), known for its favorable metabolic profile and lower side effect risk, on iron metabolism in PCOS patients, while also exploring the potential relationship between metabolic parameters and iron status.

Methods: The retrospective analysis was conducted on 81 women aged 18-45, diagnosed with PCOS according to the Rotterdam criteria and treated with EE/DRSP for six months.

Iloprost-Loaded Electrospun Polycaprolactone/Gelatin Membranes for Enhanced Healing of Colon Anastomosis.

Despite the variety of proposed solutions, anastomotic leakage is still a critical complication after colorectal surgery, which causes increased clinical mortality and morbidity. By enhancing microcirculation in the colonic mucosa, the use of Iloprost (Ilo) has shown promising results for the healing of anastomosis. The purpose of this study is to examine the performance of Ilo-impregnated Polycaprolactone:Gelatin electrospun membranes (PCL/Gel/Ilo) on anastomosis repair and intra-abdominal adhesion behavior in the Rat colon.

Activity of CDK4/6 inhibitors and parameters affecting survival in elderly patients in age-subgroups: Turkish Oncology Group (TOG) retrospective study.

Highly selective inhibitors of cyclin-dependent kinase 4 and 6 (CDK4/6is) have emerged as a standart of care for first- and second-line therapies in combination with endocrine therapy (ET) for HR+/HER2- metastatic breast cancer (MBC) patients. It has been reported that combination therapy is more effective than ET alone and is safe in elderly patients as well as young patients. Nevertheless, elderly and very old patients with HR+/HER2-MBC treated with CDK4/6 inhibitor (CDK4/6i) combinations are relatively underrepresented in randomized controlled trials.

Evaluation of the effects of thyroid functions on frailty in geriatric patients using the Edmonton, SOF and FRAIL Scales.

Unlabelled: BACKGROUND AND RATIONALE: Thyroid dysfunction in older adults often mimics the signs of aging, impacting metabolism and overall physiological balance. While age-related chronic conditions have been extensively studied, the relationship between thyroid function and frailty remains underexplored.

Objective: This study aimed to evaluate the effects of thyroid dysfunction on frailty among individuals aged 65 years and older.

Cardiac effects and comorbidities of neurological diseases.

Neurological disorders encompass a complex and heterogeneous spectrum of diseases affecting the brain, spinal cord, and peripheral nervous system, each presenting unique challenges that extend well beyond primary neurological symptoms. These disorders profoundly impact cardiovascular health, prompting an intensified exploration into the intricate interconnections between the neurological and cardiovascular systems. This review synthesizes current insights and research on cardiovascular comorbidities associated with major neurological conditions, including stroke, epilepsy, Parkinson's disease, multiple sclerosis, and Alzheimer's disease.