A Novel Splice Site Variant in Gene in Multiple Affected NEM8 Family Members Who Present Phenotypic Variability.

Introduction: Nemaline myopathy (NEM) is a heterogeneous muscle disease, which usually presents with hypotonia and muscle weakness. Biallelic pathogenic variants of gene cause severe form of NEM (NEM8), which leads to a wide range of symptoms, including hypotonia, muscle weakness, joint contractures and fractures. Nemaline bodies in muscle fiber are characteristic findings of the disease.

Safety and Efficacy of Nusinersen Focusing on Renal and Hematological Parameters in Spinal Muscular Atrophy.

Background: Spinal muscular atrophy (SMA) is a motor neuron disease caused by mutations in the SMN1 gene. Nusinersen, an antisense oligonucleotide, has been shown to improve motor function in SMA patients. However, concerns regarding its renal safety remain as previous studies have linked similar treatments to renal toxicity.

Pediatric, adult, and late-onset multiple sclerosis patients: A unified analysis of clinical profiles and treatment responses.

Objective: This study aimed to conduct a unified analysis comparing the clinical characteristics, disease progression, and treatment responses of pediatric-onset multiple sclerosis (POMS), adult-onset multiple sclerosis (AOMS), and late-onset multiple sclerosis (LOMS) patients.

Methods: Utilizing a retrospective cohort design, we analyzed the records of 269 patients from MS clinics and categorized them into the POMS (<18 years), AOMS (≥18 and <50 years), and LOMS (≥50 years) groups based on age at diagnosis. Data collection focused on demographics, clinical manifestations, disability scores, MRI findings, and treatment outcomes.

Are we heroes or couriers? A phenomenological study on reappropriation of professional subjectivity and agency among health professionals during COVID-19 contact tracing in Türkiye.

During the COVID-19 pandemic, Türkiye implemented a distinctive contact tracing approach involving in-person home visits by medical professionals to individuals who tested positive for the virus. This study examines the experiences of health professionals involved in contact tracing, exploring how they reappropriated their professional subjectivity and agency during their deployment in this role. It is an interpretive phenomenological qualitative study.

Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders.

Purpose: We describe 3 families with Charcot-Marie-Tooth neuropathy (CMT), harboring a homozygous NDUFS6 NM_004553.6:c.309+5G>A variant previously linked to fatal Leigh syndrome.

The Role of Neuroinflammatory Mediators in the Pathogenesis of Traumatic Brain Injury: A Narrative Review.

Traumatic brain injury (TBI) is a debilitating acquired neurological disorder that afflicts nearly 74 million people worldwide annually. TBI has been classified as more than just a single insult because of its associated risk toward various long-term neurological and neurodegenerative disorders. This risk may be triggered by a series of postinjury secondary molecular and cellular pathology, which may be dependent on the severity of the TBI.

Functional Outcomes and Complication Analysis of Plate Osteosynthesis versus Hemiarthroplasty in Three-part and Four-part Proximal Humerus Fractures.

Objective: To compare the functional results and complications of open reduction-internal fixation and hemiarthroplasty performed in Neer three-part and four-part proximal humerus fractures.

Methods: The retrospective study was conducted at the Istanbul Training and Research Hospital, Turkey, and comprised data of patients who were diagnosed with three-part or four-part fracture of the proximal humerus and underwent surgical procedure between January 2008 and April 2013. Those who had undergone open reduction-internal fixation using anatomical locking plates were placed in group A, and those who had undergone hemiarthroplasty were in group B.

Clinical predictors of drug-resistant epilepsy in children.

Background/aim: In up to 20% of epilepsy patients, seizures may not be controlled despite the use of antiepileptic drugs, either alone or in combination. These individuals are considered to have drug-resistant epilepsy. Drug-resistant epilepsy is usually associated with intellectual disability, psychiatric comorbidity, physical injury, sudden unexpected death, and low quality of life.

The Effect of the Coronavirus 2019 (COVID-19) Pandemic on the Number and Characteristics of Orthopedic Trauma Patients in a Tertiary Care Hospital in Istanbul.

Objective The aim of this study was to investigate the distribution of the causes of traumatic fractures, types of fractures, and fractures requiring surgery occurred during the one month period following the measures taken by the government due to the COVID-19 pandemic and to compare these data with that of the previous year. Patients and methods The number of patients with fractures, the distribution of these fractures and the number of patients who had surgical indications and underwent a surgery were identified. Patients' age, gender and the type of trauma they were exposed to were determined.

Long-Term results of total Hip Arthroplasty performed using a cementless expansive Acetabular Cup and Spotorno Femoral Stem.

Objective: In this study we aimed to investigate the long-term clinical and radiological results, revision rates and causes, and the rate of implant survival in total hip arthroplasty performed using CLS expansion cup and Spotorno cementless femoral stem.

Methods: Clinical results of total hip arthroplasty performed on 131 hips of 114 patients in Istanbul Training and Research Hospital between 1993 and 2003 were retrospectively evaluated according to the Harris Hip Score. Revision rates were determined and implant survival rates were identified using the Kaplan-Meier estimator.

Enlightening the neuroprotective effect of quercetin in epilepsy: From mechanism to therapeutic opportunities.

Epilepsy is a devastating neurological disorder characterized by the repeated occurrence of epileptic seizures. Epilepsy stands as a global health concern affecting around 70 million people worldwide. The mainstream antiepileptic drugs (AEDs) only exert symptomatic relief and drug-resistant epilepsy occurs in up to 33 percent of patients.

Tibial tubercle-trochlear groove (TT-TG) distance is a reliable measurement of increased rotational laxity in the knee with an anterior cruciate ligament injury.

Background: The aims of this study were: 1. To evaluate the use of the tibial tubercle-trochlear groove (TT-TG) distance as a measurement showing rotational instability after anterior cruciate ligament (ACL) injury. 2.

Intravenous Levetiracetam for Treatment of Seizures in Term and Preterm Neonates.

Context: Seizures are the most frequent neurological disturbance in the neonatal period, and there are no evidence-based guidelines for the treatment of neonatal seizures. Here we report a study on the use of levetiracetam as second-line therapy in the treatment of seizures in term and preterm neonates.

Aim: The aim of this study was to assess the efficacy and safety of levetiracetam for seizures of term and preterm neonates.

FACTORS AFFECTING THE FUNCTIONAL OUTCOME OF OXFORD PHASE 3 UNICOMPARTMENTAL KNEE ARTHROPLASTY.

Objective: To determine the factors that affect the functional outcome of Oxford Phase 3 unicompartmental knee arthroplasty (UKA).

Methods: We assessed a total of 52 UKA knees of 49 patients with a minimum follow-up of 2 years (24-72 months). We recorded the results for Range of motion (ROM) and body mass index (BMI) and the presence o patello-femoral arthrosis (PFA).

The frequency of reduction loss after arthroscopic fixation of acute acromioclavicular dislocations using a double-button device, and its effect on clinical and radiological results.

Background: The aim of this study was to investigate the effect of reduction loss of more than 3 mm on clinical and radiological results after at least 2 years of follow-up after arthroscopic fixation of acute acromioclavicular joint dislocations using a double-button device.

Methods: Thirty-six patients who had acute (< 3 weeks old), type III or V acromioclavicular (AC) joint dislocations underwent arthroscopic fixation of the AC joint using a double-button device. Clinical and radiological evaluations were performed at preoperative, postoperative first day, 3 months and last follow-up.

Radiologic Outcomes and Complication Analysis of the Posterior Vertebral Column Resection in the Treatment of Previously Operated Severe Kyphoscoliosis: A Retrospective Case Series.

Objective: The aim of this study was to evaluate the radiologic outcomes and complication analysis of posterior vertebral column resection (PVCR) performed on previously operated patients with severe kyphoscoliosis (SK).

Methods: Twelve patients (6 men and 6 women) with SK underwent PVCR. The mean age of the patients preoperatively was 16 years (range, 10-26 years).

Arthroscopic Fixation of a Posterior Acetabular Wall Fracture: A Case Report.

The aim of this study was to present the results of an unusual surgical technique for the treatment of posterior wall acetabular fractures. A 49-year-old man presented to the emergency department after a fall from three meters. His X-rays revealed a right acetabular posterior wall fracture.

Medial Swivel Dislocation of the Talonavicular Joint with Associated Cuboid Fracture.

Medial talonavicular dislocation associated with cuboid fracture is rare. We report an 18-year-old man with this injury who exhibited excellent results after open reduction and stabilization of the joint with temporary Kirshner wires.

The Effect of Critical Shoulder Angle on Clinical Scores and Retear Risk After Rotator Cuff Tendon Repair at Short-term Follow Up.

The authors aimed to investigate whether standard acromioplasty can reduce critical shoulder angle (CSA) effectively and to investigate the effects of postoperative CSA on the clinical outcomes and retear rates. Patients are divided in to three groups: group 1 (24 patients): CSA under 35° before surgery, group 2 (25 patients): CSA over 35° before surgery and under 35° after surgery and group 3 (17 patients): CSA over 35° before and after surgery. Standard acromioplasty was performed if CSA is over 35 and no acromioplasty was performed if the CSA is already under 35.

The effect of morbid obesity (BMI ≥ 35 kg/m) on functional outcome and complication rate following unicompartmental knee arthroplasty: a case-control study.

Background: The aim of this study was to evaluate and compare the functional outcomes and complication rates of patients in short-term and midterm follow-up period when medial unicompartmental knee arthroplasty (UKA)-applied patients were grouped according to BMI values.

Methods: One hundred four patients (mean age 60.2 ± 7.