A 5-month-old male patient presented with obstructive hydrocephalus caused by pineal cyst apoplexy. Ventriculoperitoneal shunt surgery was performed for hydrocephalus treatment. During follow-up, spontaneous shrinkage of the cyst was observed.
View Article and Find Full Text PDFBackground: Cystic fibrosis (CF) is a multisystemic disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, resulting in defective synthesis or function of the CFTR protein. Historically, CF treatment focused on managing symptoms and complications. Fortunately, modulator drugs are now available to directly target the defective CFTR protein.
View Article and Find Full Text PDFBackground: Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS), a relatively common cause of late-onset progressive ataxia, is a genetic disease characterised by biallelic pentanucleotide AAGGG repeat expansion in intron 2 of the replication factor complex subunit 1 gene. Herein, we describe the first molecularly confirmed CANVAS family with five affected siblings from Turkey.
Case Presentation: The family comprised seven siblings born from healthy non-consanguineous parents.
: Cisplatin is a chemotherapeutic drug that is frequently used with hyperthermic intraperitoneal chemotherapy (HIPEC). Cisplatin-induced gonadotoxicity leads to a depletion of the ovarian reserve, causing premature ovarian insufficiency. This study aimed to investigate the impact of hyperthermia on cisplatin-induced ovarian toxicity and to determine whether sevoflurane or desflurane could be a more appropriate choice of anesthetic for reducing ovarian toxicity in HIPEC procedures.
View Article and Find Full Text PDFPurpose: To evaluate the lamina cribrosa, retinal nerve fiber layer (RNFL), and macula in patients with primary open-angle glaucoma (POAG) and pseudoexfoliation glaucoma (PEXG) and healthy individuals using enhanced depth imaging (EDI) of spectral-domain optical coherence tomography (SD-OCT).
Methods: A total of 158 eyes were included in the study, comprising 58 eyes of 29 patients with POAG, 50 eyes of 25 patients with PEXG, and 50 eyes of 25 healthy individuals. The lamina cribrosa thickness (LCT) (at three locations), lamina cribrosa depth (LCD), RNFL thickness, and the macular thickness were measured using the EDI mode of the SD-OCT.
Human development relies on the correct replication, maintenance and segregation of our genetic blueprints. How these processes are monitored across embryonic lineages, and why genomic mosaicism varies during development remain unknown. Using pluripotent stem cells, we identify that several patterning signals-including WNT, BMP, and FGF-converge into the modulation of DNA replication stress and damage during S-phase, which in turn controls chromosome segregation fidelity in mitosis.
View Article and Find Full Text PDFBackground: Rhinorrhea is a common complication after endoscopic endonasal transsphenoidal pituitary surgery (EETPS). This study evaluates the effectiveness of our sellar reconstruction technique in preventing rhinorrhea.
Methods: From June 2020 to March 2024, a surgical team performed 490 EETPS procedures on 458 pituitary adenoma patients.
Psoriasis is a common multisystem inflammatory disease, and arthritis is an essential component of the disorder, requiring early diagnosis and prompt treatment for successful management. In this study, we aimed to investigate the relationship between nail and scalp involvement and other covariates with psoriatic arthritis (PsA). This cross-sectional study, conducted from June 2021 through December 2021, included 763 patients from 11 different centers in Turkey.
View Article and Find Full Text PDFBackground And Objectives: Hepatocellular carcinoma (HCC) is a primary cancer that poorly responds to treatment. Molecular cancer studies led to the development of kinase inhibitors, among which sorafenib stands out as a multi-kinase inhibitor approved by FDA for first line use in HCC patients. However, the efficiency of sorafenib was shown to be counteracted by numerous subcellular pathways involving the effector kinase AKT, causing resistance and limiting its survival benefit.
View Article and Find Full Text PDFObjectives: To draw attention to acute positional vertigo and central positional nystagmus (CPN) developing as the sole features of cerebellar nodulus infarction.
Background: The cerebellar nodulus is vascularized by the medial branch of the posterior inferior cerebellar artery, which also supplies the uvula, tonsil, tuber, and pyramid of the vermis, and the inferior part of the cerebellar hemisphere, making isolated cerebellar nodulus infarction extremely rare. CPN occurs after a change in head position with respect to gravity and is caused by pathologies involving the vestibulo-cerebellar pathways.
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.
View Article and Find Full Text PDFIntroduction: Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are life-threatening acute mucocutaneous disorders usually triggered by drugs. In this study, we aimed to evaluate the factors affecting mortality in patients with SJS-TEN.
Methods: Our study is a retrospective cohort study, analyzing data collected from a total of 12 tertiary care centers between April 2012 and April 2022.
Purpose: We aimed to evaluate retinal nerve fiber and choroidal layer alterations in adolescents with anorexia nervosa using spectral-domain optical coherence tomography.
Methods: Thirty patients with anorexia nervosa and 30 healthy adolescents aged 12-18 years were included in this study. Their age, sex, body mass index, anorexia nervosa type, disease duration, and spectral-domain optical coherence tomography data were recorded.
Ulus Travma Acil Cerrahi Derg
April 2024
Background: This descriptive analysis examines the victims of the February 6, 2023, earthquakes in Kahramanmaraş and Elbistan, Türkiye. It aims to detail the injury profiles related to neuro-musculoskeletal trauma, assess the rehabilitation needs of patients, and propose a comprehensive rehabilitation approach.
Methods: The study included patients injured in the Kahramanmaraş-centered earthquake on February 6, 2023, who were transported to our hospital based on their rehabilitation needs.
Purpose: This study aims to investigate the efficacy of lower dose pilocarpine in alleviating late dry mouth symptoms in head and neck cancer patients received radiotherapy.
Methods: Eighteen head and neck cancer patients experiencing persistent dry mouth were enrolled in this study. All participants started pilocarpine treatment a median of 6 months post-radiotherapy.
Background: Cardiovascular autonomic neuropathy (CAN) is a serious complication of diabetes, impacting the autonomic nerves that regulate the heart and blood vessels. Timely recognition and treatment of CAN are crucial in averting the onset of cardiovascular complications. Both clinically apparent autonomic neuropathy and subclinical autonomic neuropathy, particularly CAN pose a significant risk of morbidity and mortality in children with type 1 diabetes mellitus (T1DM).
View Article and Find Full Text PDFBackground: Poor balance ability may contribute to shoulder pathology in patients with existing shoulder pathologies or vice versa. The relationship between kinesiophobia and chronic shoulder pain intensity has been researched, although the conclusions are conflicting. To our knowledge, no study in the literature explores the association between kinesiophobia and balance in patients with shoulder pain.
View Article and Find Full Text PDFBackground: In the UK, unique and unforeseen factors, including COVID-19, Brexit, and Ukraine-Russia war, have resulted in an unprecedented cost of living crisis, creating a second health emergency. We present, one of the first rapid reviews with the aim of examining the impact of this current crisis, at a population level. We reviewed published literature, as well as grey literature, examining a broad range of physical and mental impacts on health in the short, mid, and long term, identifying those most at risk, impacts on system partners, including emergency services and the third sector, as well as mitigation strategies.
View Article and Find Full Text PDFStroke is a significant health problem that may result in long-term functional deficits. Balance and walking problems are among the most common post-stroke deficits, and they may negatively affect quality of life. Our aim in this study was to investigate the effects of cervical mobilization on balance and gait parameters after stroke.
View Article and Find Full Text PDFUnlabelled: BACKGROUND AND OBJECTIVES: Children with tracheostomies are at increased risk of tracheostomy-related complications and require extra care. Standardized training programs for caregivers can improve tracheostomy care and reduce complications. In this study, we compared caregiver knowledge and skill scores after a standardized theoretical and practical training program on tracheostomy care (IStanbul PAediatric Tracheostomy (ISPAT) project) immediately and 1 year post-training and evaluated how this training affected the children's clinical outcomes.
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