Clinical and genetic characteristics of patients with monocarboxylate transporter-8 deficiency: a multicentre retrospective study.

Unlabelled: Allan-Herndon-Dudley syndrome is a neurodevelopmental disorder characterized by motor and intellectual disabilities. Despite its rarity, there has been a rise in interest due to ongoing research and emerging therapy suggestions. In this multicenter, retrospective, cross-sectional study, the genetic characteristics and clinical data of twenty-one cases of genetically confirmed MCT8 deficiency were evaluated.

Breast Cancer Recurrence in Initially Clinically Node-Positive Patients Undergoing Sentinel Lymph Node Biopsy After Neoadjuvant Chemotherapy in the NEOSENTITURK-Trials MF18-02/18-03.

Background: This study aims to identify factors predicting recurrence and unfavorable prognosis in cN+ patients who have undergone sentinel lymph node biopsy (SLNB) following neoadjuvant chemotherapy (NAC).

Methods: The retrospective multi-centre "MF18-02" and the prospective multi-centre cohort registry trial "MF18-03" (NCT04250129) included patients with cT1-4N1-3M0 with SLNB+/- axillary lymph node dissection (ALND) post-NAC.

Results: A total of 2407 cN+ patients, who later achieved cN0 status after NAC and subsequently underwent SLNB, were studied.

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.

Fabry disease in familial Mediterranean fever according to the severity of the disease.

Objectives: Mutations in the α-galactosidase A (GLA) gene result in Fabry disease (FD), a rare metabolic condition. FD patients present with heterogeneous clinical manifestations, which may overlap with systemic diseases including familial Mediterranean fever (FMF). The aim of this study was to determine the frequency of FD in patients with mild and severe FMF and to prevent misdiagnosis by increasing clinicians' awareness.

Impact of patient characteristics on ASDAS disease activity state cut-offs in axial spondyloarthritis: results from nine European rheumatology registries.

Objectives: To re-evaluate cut-offs for disease activity states according to the Axial Spondyloarthritis Disease Activity Score (ASDAS), and study the impact of sex, age, calendar time, disease and symptom duration on ASDAS and ASDAS cut-offs in a large contemporary cohort.

Methods: Data from 2939 patients with axial spondyloarthritis (axSpA) starting their first tumour necrosis factor inhibitor in nine European registries were pooled and analysed. Receiver operating characteristic analyses were performed to identify cut-offs against external criteria.

Depression scores and its relationship with sexual quality of life in women with type 1 and type 2 diabetes: A cross-sectional study.

Diabetes is an important public health problem with increasing prevalence worldwide. However, the prevalence of diabetes in women is increasing. Women with diabetes have many physical and psychological complications.

Factors Associated with Increasing Costs in Severe Chronic Obstructive Pulmonary Disease Exacerbation: Turkish Thoracic Society Chronic Obstructive Pulmonary Disease Assembly.

Chronic obstructive pulmonary disease (COPD) that is the third leading cause of death in the world is one of the main economic burden. The cost is primarily due to COPD exacerbations and hospitalizations. We aimed to determine the factors associated with increasing costs in severe COPD exacerbation.

Limbal graft transplantation: a rare implementation in pediatric limbal stem cell deficiency.

Purpose: To evaluate limbal graft transplantation success in pediatric patients with chemical injury-induced limbal stem cell deficiency (LSCD) using the 'LSCD Working Group' staging system.

Methods: Medical records of 11 eyes of 11 children who underwent limbal graft transplantation (limbal autograft/limbal allograft) were included. Surgical success was defined as improvement in the post-operative 1st year LSCD stage.

Impact of the COVID-19 Pandemic on Diabetic Foot Patients: A Shift in the Infectious Agent Profile Toward Nonfermentative Gram-Negative Bacilli.

Background: Diabetes foot infection is a very important public health problem that causes serious health problems, mortality, and high health expenditures, and is one of the most important complications of diabetes mellitus. There are concerns that approaches such as limited personal visits to doctors, avoidance of hospitals, and restrictions on nonemergency surgical procedures during the coronavirus disease of 2019 pandemic pose a threat to those with diabetic foot problems, including diabetic foot ulcers (DFUs), ischemia, and infection, resulting in increased limb loss and mortality.

Methods: This multicenter, retrospective, cross-sectional study was conducted in 14 tertiary care hospitals from various regions of Turkey.

A case of Williams syndrome with Wolff-Parkinson-White syndrome.

Introduction: Williams syndrome (WS) cases have been reported to have with 25-100 times greater increased risk of sudden cardiac death (SCD). SCD has been reported in cases without any evidence of structural cardiovascular anomalies. Wolff-Parkinson-White (WPW) syndrome is characterized by short PR interval and delta wave.

Adiponectin in spinal cord injury: What is the role of nutrition in serum adiponectin concentration?

The study aimed to analyze the relationship between serum adiponectin concentration, Mediterranean diet (MD) adherence, and Dietary Approaches to Stop Hypertension (DASH) diet adherence in patients with spinal cord injury (SCI). Thirty-three SCI patients (21 males, 12 females; median age: 33 years; range, 18 to 65 years) and 33 age-, sex-, and body mass index-matched healthy controls (21 males, 12 females; median age: 33 years; range, 18 to 64 years) were included in this cross-sectional study between March 2021 and March 2022. Serum adiponectin concentrations of all participants were measured.

Assessing safety and efficacy of TNFi treatment in late onset ankylosing spondylitis: a TURKBIO registry study.

Clinical data on the use of tumour necrosis factor inhibitors (TNFi) in late-onset ankylosing spondylitis (LoAS) are limited. The present study aimed to evaluate efficacy, safety, and treatment adherence associated with the initial use of TNFi therapy in biologic naive patients diagnosed with LoAS. Patients whose age of onset was ≥ 45 years and < 45 years were classified as having LoAS and YoAS, respectively, based on the age of symptom onset.

Genetic Findings in Short Turkish Children Born to Consanguineous Parents.

Introduction: The diagnostic yield of genetic analysis in the evaluation of children with short stature depends on associated clinical characteristics, but the additional effect of parental consanguinity has not been well documented.

Methods: This observational case series of 42 short children from 34 consanguineous families was collected by six referral centres of paediatric endocrinology (inclusion criteria: short stature and parental consanguinity). In 18 patients (12 families, group 1), the clinical features suggested a specific genetic defect in the growth hormone (GH) insulin-like growth factor I (IGF-I) axis, and a candidate gene approach was used.

Similarities and differences of neuropsychological functions, metacognitive abilities and resilience in Cognitive Disengagement Syndrome (CDS) and Attention Deficit/Hyperactivity Disorder (ADHD).

It was aimed to evaluate the relationships between neuropsychological functions, self-reported metacognitive abilities, and resilience levels among children with Attention Deficit Hyperactivity Disorder (ADHD) and those with Cognitive Disengagement Syndrome (CDS) compared to healthy controls. This cross-sectional, case-control study was consisted of 36 children with CDS only, 36 with ADHD only, 33 with CDS and ADHD and 39 control children were enrolled for a total sample of 144 children. The intellectual and neuropsychological functioning of the participating children was evaluated using the WISC-IV.

Investigation of the psychometric properties of "exercise Benefits/Barriers scale" in Turkish patients with rheumatoid arthritis.

Background: Rheumatoid arthritis (RA) is a chronic systemic disease accompanied by several symptoms and functional disabilities. Physical activity (PA) is crucial for disease management and patients' perception of exercise is essential for a rehabilitation plan.

Purpose: This study aims to examine the psychometric properties of the Exercise Benefits/Barriers Scale (EBBS) that is frequently used in previous studies in the RA population.