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.

Assessment of dyslipidemia management in Turkey using a Delphi panel.

This study evaluated the management of dyslipidemia in Turkey with the goal of understanding current diagnosis and treatment patterns, as well as identifying unmet needs in achieving effective low-density lipoprotein cholesterol (LDL-C) targets. Using a Delphi panel consisting of nine expert cardiologists, the study reveals key gaps in dyslipidemia management, particularly in the underutilization of combination therapies, such as statins and PCSK9 inhibitors, which are crucial for achieving LDL-C targets in high-risk patients. The findings indicate that while many patients with very high cardiovascular risk are diagnosed, a significant proportion do not receive optimal treatment to reach LDL-C levels recommended by European guidelines.

Development of In-Hospital and Discharge Protocols for Optimal Lipid-Lowering Strategies in Patients with Acute Coronary Syndrome in Türkiye: Expert Guidance.

Although guidelines strongly recommend low levels of low-density lipoprotein cholesterol (LDL-C) in patients with acute coronary syndrome (ACS), these goals are not achieved in many patients. We present expert recommendations for the in-hospital and post-discharge management of lipid-lowering therapy in ACS patients in Türkiye. A group of expert cardiologists comprising members of the Turkish Society of Cardiology and leading lipidologists who have all worked in national cardiology lipid working groups for at least 4 years, considered the optimal approach to lipid management in ACS patients in Türkiye, taking into account Turkish healthcare infrastructure and issues from real-world practice.

Turkish Society of Gastroenterology: Pancreas Working Group, Acute Pancreatitis Committee Consensus Report.

Acute pancreatitis (AP) is a clinical condition that arises acutely in the pancreas through various inflammatory pathways due to multiple causes. Turkish Society of Gastroenterology Pancreas Working Group developed comprehensive guidance statements regarding the management of AP that include its epidemiology, etiology, clinical presentation, diagnostic criteria, disease severity, treatment, prognosis, local and systemic complications. The statements were developed through literature review, deliberation, and consensus opinion.