Challenging clinical management of a patient with Gaucher disease type IIIC homozygous for the D409H mutation, aortic valve calcification and porcelain aorta.

Background: Gaucher disease is a rare lysosomal storage disorder caused by glucocerebrosidase enzyme deficiency resulting in the cumulative deposition of glucocerebroside in macrophages, predominantly effecting bone marrow, liver and spleen. Gaucher disease type IIIC is a rare subtype that is characterized by cardiovascular involvement, eye-movement disorders, and late-onset neurological symptoms.

Case Presentation: We present a 14-year-old adolescent boy diagnosed with Gaucher disease type IIIC at age four with a homozygous D409H mutation who developed severe aortic valve stenosis, extensive aortic calcification and a porcelain aorta despite enzyme replacement treatment since the diagnosis.

Successful desensitization in a patient with metastatic colorectal cancer presenting with regorafenib-mediated fix drug eruption.

Introduction: Regorafenib is an oral protein kinase inhinitor approved fot the treatment of metastatic colorecral cancer. We present a first successful case of desensitization in regorafenib-related fix-drug eruption in the literature.

Case Report: A 44-year-old female patient was diagnosed with metastatic colorectal adenocarcinoma.

Very high take-off the right coronary artery with double outlet right ventricle.

This article presents an anatomical variation of the very high take-off right coronary artery from the ascending aorta. Clinical care is complicated by the patient's double outlet right ventricle and right aortic arch associated with this situation.

Percutaneous Metallic Stents in Malignant Biliary Obstruction: Comparison of Nitinol and Wall Stents.

Introduction: Palliation of malign biliary obstruction is important which is commonly carried out by percutaneous biliary stenting. Our primary aim with this study was assessment of performance of wall stents, and nitinol stents for the palliation of malign biliary obstruction.

Methods: The medical records of 157 patients who underwent biliary stenting in our department between January 1, 1995, and December 31, 2005, were retrospectively analyzed.

Predictive modeling of mortality in carbapenem-resistant bloodstream infections using machine learning.

, a notable drug-resistant bacterium, often induces severe infections in healthcare settings, prompting a deeper exploration of treatment alternatives due to escalating carbapenem resistance. This study meticulously examined clinical, microbiological, and molecular aspects related to in-hospital mortality in patients with carbapenem-resistant . (CRAB) bloodstream infections (BSIs).

Ictal Coprolalia: Three Cases with Nondominat Frontal Lobe Involvement and Review of the Literature.

Coprolalia is defined as the involuntary use of obscene, socially unacceptable, and derogatory words. Ictal coprolalia is a rare presentation of epilepsy. This study aimed to determine the localizing and lateralizing value and frequency of ictal coprolalia in epilepsy patients.

Predictors of anastomotic leak and conduit necrosis after oesophagectomy: Results from the oesophago-gastric anastomosis audit (OGAA).

Background: Both anastomotic leak (AL) and conduit necrosis (CN) after oesophagectomy are associated with high morbidity and mortality. Therefore, the identification of preoperative, modifiable risk factors is desirable. The aim of this study was to generate a risk scoring model for AL and CN after oesophagectomy.

Sepiapterin Reductase Deficiency Misdiagnosed as Neurological Sequelae of Meningitis.

Introduction: Sepiapterin reductase deficiency (SRD) is an exceedingly rare neurotransmitter disease caused by an enzyme error involved in the synthesis of tetrahydrobiopterin (BH4). It has been described in nearly 60 cases so far. The clinical manifestations include motor and speech delay, axial hypotonia, dystonia, weakness, oculogyric crises, diurnal fluctuation, and improvement of symptoms during sleep.

Evaluation of keyhole-pattern reduction glossoplasty for macroglossia in beckwith-wiedemann syndrome: A multidimensional analysis of postoperative course and outcomes.

The aim of this study was to evaluate the postoperative course and long-term functional and aesthetic outcomes in patients with Beckwith-Wiedemann syndrome (BWS) following surgical reduction of macroglossia, using multiple questionnaires. Patients with BWS who underwent keyhole reduction for macroglossia were included in this study. The postoperative course for each patient was recorded, and multiple questionnaires were administered to evaluate aesthetic concerns, oral incompetence or feeding difficulties, sleep-disordered breathing symptoms, and speech.

No link between type I interferon autoantibody positivity and adverse reactions to COVID-19 vaccines.

Type I interferons act as gatekeepers against viral infection, and autoantibodies that neutralize these signaling molecules have been associated with COVID-19 severity and adverse reactions to the live-attenuated yellow fever vaccine. On this background, we sought to examine whether autoantibodies against type I interferons were associated with adverse events following COVID-19 vaccination. Our nationwide analysis suggests that type I interferon autoantibodies were not associated with adverse events after mRNA or viral-vector COVID-19 vaccines.

Safety and efficacy of growth-friendly instrumentation for early-onset scoliosis in patients with spinal muscular atrophy type 1 in the disease-modifying treatment era.

Purpose: To evaluate the safety of growth-friendly instrumentation for early-onset scoliosis (EOS) in patients with spinal muscular atrophy (SMA) type 1 who received disease-modifying treatment (DMT) and analyze short-term efficacy.

Methods: Retrospective search was conducted between 2017 and 2023. Patients with genetically confirmed SMA type 1 who were surgically treated for spinal deformity and receiving DMTs (nusinersen, risdiplam, or onasemnogene abeparvovec) were included.

Successful desensitization in a patient with recurrent anaplastic oligodendroglioma presenting with procarbazine-mediated anaphylaxis.

Introduction: Procarbazine is an oral chemotherapeutic agent used in the treatment of brain malignancies and is associated with hypersensitivity reactions. In case of grade 4 reactions, rechallenge should be avoided, and the agent should be replaced, unless the treatment is curative, in which case the application of a desensitization protocol should be considered. We present a successful case of desensitization in procarbazine anaphylaxis.

Comparative Analysis of Perfusion Index and End-Tidal Carbon Dioxide in Cardiac Arrest Patients: Implications for Hemodynamic Monitoring and Resuscitation Outcomes.

Background: During cardiopulmonary resuscitation (CPR), some parameters (e.g., intraarterial pressure measurement and end-tidal carbon dioxide (EtCO)) indicate the quality and outcome of resuscitation.

Refusal of the hospitalization: a distressed dilemma in obstetric practice.

Background: Pregnant women are a special population in which hospitalizations are more recommended due to physiological changes mimicking pathologies and medico-legal concerns.

Objectives: We aimed to assess the obstetric outcomes of expectant mothers who were admitted to the obstetrics emergency outpatient clinic and declined the hospitalization advised by doctors. Additionally, we examined the appropriateness of physicians' recommendations.

Duties of Anaesthetists and Assessment of Awareness, Concerns, and Expectations on Anaesthesia Practices.

Objective: Numerous studies performed worldwide indicate that the public has limited knowledge of anaesthesia practices and anaesthetists' duties and responsibilities. This study aimed to identify the level of knowledge about anaesthetists and anaesthesia practices, and to assess the reasons for anxiety about anaesthesia of the population admitted to our hospital, which is tertiary in Turkey. The secondary aim was to analyze their differences according to sex, education level, and acquired anaesthesia experience.

Case Series: Exposure to Glucagon-like Peptide-1 Receptor Agonist in the First Trimester of Pregnancy in Two Siblings.

Background: The safety of glucagon-like peptide-1 receptor agonists in pregnancy is under investigation. In this report, we want to share the results of a patient with polycystic ovary syndrome who applied to our outpatient clinic for diabetes and had two unplanned pregnancies following the initiation of exenatide for obesity treatment.

Case Presentation: A 40-year-old woman with diabetes was admitted to the endocrinology outpatient clinic.

Current Status of Pediatric Oncology Clinics and Nursing Practices in Turkey.

Cancer is a significant health problem in Turkey with pediatric cancer being the fourth leading cause of death among children. Pediatric oncology has been acknowledged as a pediatric subspecialty since 1983, and 3,000 new cases of childhood cancer are expected every year. We describe our country's geography, the number and distribution of pediatric oncology centers, the profile of clinical and academic nurses, and our clinical practice.

Ictal crying in epileptic seizures and psychogenic nonepileptic seizures: What are the hints to differentiate them?

Objectives: Ictal crying (IC) is a quite rare semiological manifestation of epileptic seizures (ESs) and it has been mostly reported in psychogenic nonepileptic seizures (PNESs). However, labeling IC as a pathognomonic sign of PNES can be harmful. We first aimed to investigate IC frequency in ES and PNES and highlight the differences of IC between ES and PNES.

Web based research in sexual medicine: a position statement of the European Society for Sexual Medicine.

Background: Although the use of the Web has brought major advances in every step of the research process, this also comes with several methodological challenges.

Aim: The article presents the European Society for Sexual Medicine's position statements on key methodological concerns relative to Web-based research in sexual medicine.

Methods: The authors conducted a systematic scoping review of articles using Web-based research methods in sexual medicine.