Chronic granulomatous disease: A single-center experience in Central Anatolia.

Background: Chronic granulomatous disease (CGD), one of the phagocytic cell defects, is the primary immunodeficiency caused by dysfunction of the NADPH oxidase complex in neutrophils.

Methods: The clinical, demographic and laboratory findings of 17 CGD patients who were followed-up between 2002 and 2021 were obtained retrospectively from the records of the patients.

Results: The number of male and female patients was 10/7.

Retrospective evaluation of "Rods and Rings" pattern detected in the anti-nuclear antibody (ANA) indirect immunofluorescence (IIF) test.

Introduction: Anti-rods and rings (anti-RR) antibodies have recently been described as a cytoplasmic pattern in IIF-based screening of autoantibodies on HEp-2 cells and ICAP has named it as AC-23. It is most frequently related to drug-induced antibody generation. This study aimed to investigate the clinical significance of AC-23 positivity and its relevance to the diagnosis and/or follow-up of the associated diseases and/or drug use.

Real-world data on the efficacy and safety of trastuzumab emtansine in patients with metastatic breast cancer previously treated with pertuzumab: Turkish oncology group multicenter study.

We aimed to evaluate the efficacy and safety of trastuzumab emtansine in patients with metastatic breast cancer previously treated with pertuzumab plus trastuzumab and taxane. We reviewed the medical records of patients who were diagnosed with Human Epidermal Growth Factor Receptor 2 (HER-2) positive metastatic breast cancer and received pertuzumab and then TDM-1 between January 2014 and January 2021 from twenty- five cancer centers. The Kaplan- Meier method estimated progression-free survival (PFS) and overall survival (OS).

Expanding the phenotypic and genotypic characteristics of trichohepatoenteric syndrome: a report of eight patients from five unrelated families.

Background: Trichohepatoenteric syndrome (THES) is characterized by neonatal-onset intractable diarrhea. It often requires long-term total parenteral nutrition (TPN). In addition, other characteristic findings of the syndrome include growth retardation, facial dysmorphism, hair abnormalities, various immunological problems and other rare system findings.

Elderly and aged asthma have different characteristics: results of a multicenter study.

Background/aim: Characteristics of asthma in the elderly population is not well-known. The aim of the present study was to evaluate asthma in the elderly population, to compare disease characteristics between patients diagnosed <60 (aged asthma) and ≥60 (elderly asthma) years of age.

Materials And Methods: The study was a prospective, multicenter, cross-sectional type.

Analysis of factors influencing target PASI responses and side effects of methotrexate monotherapy in plaque psoriasis: a multicenter study of 1521 patients.

Methotrexate (MTX) is commonly used as first-line systemic treatment agent in psoriasis. We aimed to evaluate the clinical characteristics and treatment responses of patients with psoriasis undergoing MTX monotherapy. Data from adult patients with plaque psoriasis who received MTX monotherapy for at least 3 months between April 2012 and April 2022 were retrospectively evaluated in 19 tertiary care centers.

Clinicopathologic Analysis and Prognostic Factors for Survival in Patients with Operable Ampullary Carcinoma: A Multi-Institutional Retrospective Experience.

In ampullary cancer, 5-year survival rates are 30-50%, even with optimal resection and perioperative systemic therapies. We sought to determine the important clinicopathological features and adjuvant treatments in terms of the prognosis of patients with operable-stage ampullary carcinomas. We included 197 patients who underwent pancreaticoduodenectomy to treat ampullary carcinomas between December 2003 and May 2019.

Effects of short-term pre-competition weight loss on certain physiological parameters and strength change in elite boxers.

Background: Athletes in certain sports aim to gain an advantage by competing in a lower body mass class instead of competing in their own body mass class. This study aims to reveal certain physiologic and strength changes in elite male boxers who lost body mass rapidly before the competition.

Methods: 30 thirty boxers who were aged between 19-24 years and having a mean age of 7.

May the prognostic nutritional index (PNI) play a role in predicting age-related macular degeneration?

Aim: It is known that a healthy and balanced diet plays an important role in the etiopathogenesis of age-related macular degeneration (AMD). The aim of this study is to show the possible relationship between the prognostic nutritional index (PNI) and AMD.

Methods: This observational longitudinal study included 50 patients who were diagnosed with AMD and 100 participants as control group in the Ophthalmology Polyclinic of Kırşehir Ahi Evran Training and Research Hospital between December 2022 and February 2023.

Comparison of clinical features of cystic fibrosis patients eligible but not on CFTR modulators to ineligible for CFTR modulators.

Introduction: Cystic fibrosis transmembrane conductance regulator (CFTR) modulator drugs target the underlying defect and improve CFTR function. They are a part of standard care in many countries, but not all patients are eligible for these drugs due to age and genotype. Here, we aimed to determine the characteristics of non-eligible patients for CFTR modulators in the CF registry of Turkey (CFRT) to highlight their clinical needs.

Rare heterozygous genetic variants of NRXN and NLGN gene families involved in synaptic function and their association with neurodevelopmental disorders.

The interaction of neurexins (NRXNs) in the presynaptic membrane with postsynaptic cell adhesion molecules called neuroligins (NLGNs) is critical for this synaptic function. Impaired synaptic functions are emphasized in neurodevelopmental disorders to uncover etiological factors. We evaluated variants in NRXN and NLGN genes encoding molecules located directly at the synapse in patients with neuropsychiatric disorders using clinical exome sequencing and chromosomal microarray.

A New Scoring System for the Evaluation of Ibrutinib-Associated Arrhythmias in Chronic Lymphocytic Leukemia: The ACEF Score.

Objective: Bruton tyrosine kinase inhibition in cardiac tissue causes inhibition of the PI3K-AKT signaling pathway, which is responsible for protecting cardiac tissue during stress. Therefore, there is an increase in the risk of arrhythmia. This study explores the prediction of that risk with the Age-Creatinine-Ejection Fraction (ACEF) score as a simple scoring system based on the components of age, creatinine, and ejection fraction.

Comprehensive Insights Into Pediatric Craniopharyngioma: Endocrine and Metabolic Profiles, Treatment Challenges, and Long-term Outcomes from a Multicenter Study.

Objective: Craniopharyngiomas (CPG) have complex treatment challenges due to their proximity to vital structures, surgical and radiotherapeutic complexities, and the tendency for recurrence. The aim of this study was to identify the prevalence of endocrine and metabolic comorbidities observed during initial diagnosis and long-term follow-up in a nationwide cohort of pediatric CPG patients. A further aim was to highlight the difficulties associated with CPG management.

Expression of CD44, PCNA and E-cadherin in pterygium tissues.

Purpose: Pterygium is a common ocular surface disease defined by fibrovascular conjunctival growth extending onto the cornea. However, its pathogenesis remains unclear. This study aimed to determine the role of CD44, proliferating cell nuclear antigen (PCNA), and E-cadherin in pterygium formation and recurrence.

Immunosuppressive treatment results in patients with primary IgA nephropathy in Turkiye; the data from TSN-GOLD working group.

Background: Immunoglobulin A (IgA) nephropathy (IgAN) treatment consists of maximal supportive care and, for high-risk individuals, immunosuppressive treatment (IST). There are conflicting results regarding IST. Therefore, we aimed to investigate IST results among IgAN patients in Turkiye.

Baseline Characteristics of a Patient Cohort and Predictors of In-hospital MORtality in CORonary Care Units (MORCOR-TURK) Trial in Türkiye.

Objective: The MORtality in CORonary Care Units in Türkiye (MORCOR-TURK) trial is a national registry evaluating predictors and rates of in-hospital mortality in coronary care unit (CCU) patients in Türkiye. This report describes the baseline demographic characteristics of patients recruited for the MORCOR-TURK trial.

Methods: The study is a multicenter, cross-sectional, prospective national registry that included 50 centers capable of 24-hour CCU service, selected from all seven geographic regions of Türkiye.

The Effectiveness of Biological Agents on Chronic Rhinosinusitis with Nasal Polyposis in Patients with Comorbid Asthma: A Multicenter Real-Life Study from Türkiye.

: Real-life data on the efficacy of biologic agents (BAs) on asthma-comorbid CRSwNP are needed. Our primary goal is to investigate the effects of BAs on CRSwNP symptoms, as well as endoscopic and tomography scores. Our secondary goal is to show a reduction in the frequency of acute sinusitis exacerbations and the need for surgery.

Bilateral Iris Metastasis in a Patient with Small Cell Lung Carcinoma: A Case Report.

Small cell lung carcinoma (SCLC) is a neuroendocrine tumor with high probability of early disseminated disease and paraneoplastic syndromes. Choroid is the most common uveal tissue affected by metastatic disease followed by iris and ciliary body. Herein, we present a 46-year-old male with bilateral multiple iris metastasis.

Association of Gene Variants with Autism Spectrum Disorder and Other Neuropsychiatric Disorders.

Introduction: Autism spectrum disorder (ASD) is a neuropsychiatric disorder characterized by impaired social skills and limited or repetitive behaviors. In this study, we investigated the role of the gene in the etiopathogenesis of ASD.

Methods: Single-nucleotide variants were evaluated in 79 ASD patients (59 males +20 females) with no established genetic etiology associated with ASD using whole-exome sequencing/clinical exome sequencing method.

A case report of iridoschisis and cataract: a challenging diagnosis.

Purpose: To report the cataract surgery of a 79-year-old female patient with iridoschisis and senile nuclear cataracts.

Observations: Ophthalmologic examination of the 79-year-old female patient who came to our clinic with complaints of decreased vision in the right eye was observed to have a grade-3 senile nuclear cataract and iridoschisis in quadrants 2-3, 4-7, and 10-11 of the iris in the right eye and a grade-2 senile nuclear cataract and iridoschisis in quadrants 5-7 in the left eye to a lesser extent compared to the right eye. The iris fibrils were not connected to the corneal endothelium.

The efficacy of palbociclib and ribociclib in the first-line treatment of metastatic hormone receptor-positive, human epidermal growth factor receptor 2-negative breast cancer in male patients: a Turkish oncology group (TOG) study.

Introduction: Male breast cancer, comprising approximately 1% of all breast cancer cases, often leads to the exclusion of male patients as a criterion in clinical trials. While the efficacy of Cyclin-dependent kinases 4 and 6 (CDK 4/6) inhibitors has been established in metastatic hormone receptor-positive (HR +) and human epidermal growth factor receptor 2-negative (HER2 -) breast cancer in women, limited data exist on their effectiveness in male patients. We aimed to evaluate the efficacy and safety of palbociclib or ribociclib in male patients with breast cancer.

Perceptions of adult intensive care unit patients regarding nursing presence and their intensive care experiences: A descriptive-correlational study.

Aims And Objectives: This study aims to determine the relationship between perceptions of nursing presence and intensive care experiences in adult intensive care unit patients'.

Background: Intensive care units (ICUs) are settings where patients have many negative emotions and experiences, which affect both treatment and post-discharge outcomes. The holistic presence of nurses may help patients turn their negative emotions and experiences into positive ones.

Evaluating the effectiveness of inflammatory markers in pediatric open globe injury using a modified pediatric ocular trauma score.

Background: This study aims to assess pediatric patients with Open Globe Injury (OGI) using the Modified Pediatric Ocular Trauma Score (MPOTS) and to investigate the correlation between Neutrophil-to-Lymphocyte ratio (NLR) and Platelet-to-Lympho-cyte ratio (PLR) parameters with the prognosis determined by MPOTS.

Methods: In this retrospective study, we included pediatric patients with OGI. Recorded data encompassed demographic details, injury type, duration from injury to surgery, complete ophthalmological examinations, initial and final visual acuities, anterior segment and fundus findings, and NLR and PLR values.