Introduction: Spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMD-JL1) is an extremely rare skeletal dysplasia belonging to a group of disorders called linkeropathies. It is characterized by skeletal and connective tissue abnormalities. Biallelic variants in genes encoding enzymes that synthesize the tetrasaccharide linker region of glycosaminoglycans lead to linkeropathies, which exhibit clinical and phenotypic features that overlap with each other.
View Article and Find Full Text PDFStudying the molecular basis of intestinal infections caused by enteric pathogens at the tissue level is challenging, because most human intestinal infection models have limitations, and results obtained from animals may not reflect the human situation. Infections with Salmonella enterica serovar Typhimurium (STm) have different outcomes between organisms. 3D tissue modeling of primary human material provides alternatives to animal experimentation, but epithelial co-culture with immune cells remains difficult.
View Article and Find Full Text PDFTo demonstrate the prevalence of malnutrition risk in a specific rehabilitation setting. The secondary aim of the study was to compare Malnutrition Screening Tool (MST) and Malnutrition Universal Screening Tool (MUST) with Nutritional Risk Screening-2002 (NRS-2002). Patients diagnosed with stroke, anoxic brain injury, spinal cord injury, multiple sclerosis, arthritis, neuromuscular diseases, Parkinson's disease, and lymphedema who were admitted to a rehabilitation hospital were included.
View Article and Find Full Text PDFSacubitril/valsartan is an angiotensin receptor-neprilysin inhibitor (ARNI) drug used to treat patients with heart failure and has shown improvement in outcomes. Different studies reported the use of an ARNI in patients using left ventricular assist devices (LVADs). However, there are limited data on the use of ARNIs in this population.
View Article and Find Full Text PDFThis study investigates the phenolic compounds (PC), volatile compounds (VC), and fatty acids (FA) of extra virgin olive oil (EVOO) derived from the Turkish olive variety "Sarı Ulak", along with ADMET, DFT, molecular docking, and gene network analyses of significant molecules identified within the EVOO. Chromatographic methods (GC-FID, HPLC) were employed to characterize FA, PC, and VC profiles, while quality parameters, antioxidant activities (TAC, ABTS, DPPH) were assessed via spectrophotometry. The analysis revealed a complex composition of 40 volatile compounds, with estragole, 7-hydroxyheptene-1, and 3-methoxycinnamaldehyde as the primary components.
View Article and Find Full Text PDFIntroduction And Hypothesis: The objective of our study is to investigate the presence of lower urinary tract symptoms (LUTS) and its correlation with the risk of falling in older women with cognitive frailty.
Methods: The descriptive study was conducted on 102 female older adults, 60 women were classed as cognitively frail and 42 as healthy. Women were classified as having mild cognitive impairment based on the Clinical Dementia Rating Scale and as frail based on the Clinical Frailty Scale.
Objectives: The objective of this study was to develop a self-report scale for the assessment of the competence of pre-hospital health professionals in responding to radiological incidents.
Methods: Based on the findings of a systematic review analyzing the literature, the instrument followed the processes of item generation, expert opinion, language control, pilot study, and field testing.
Results: In the exploratory factor analysis, 48 items were excluded on the grounds of insufficient common variance (>0.
Polycystic ovary syndrome (PCOS) is one of the most common endocrine and metabolic disorders . This study aimed to investigate the effects of high-intensity interval training (HIIT) on insulin resistance, oxidative stress, soleus muscle function, and myokine levels in a PCOS rat model. Female rats were assigned to four groups: Control, PCOS, PCOS+Exercise, and Exercise (n=15 each).
View Article and Find Full Text PDFA sexually transmitted bacterium, Mycoplasma genitalium has varying rates of reported resistance to macrolide and some fluoroquinolone group antimicrobials recommended for the treatment of its infections. It is currently recommended that the treatment of these must be planned according to macrolide resistance status. The aim of this study was to determine the presence of macrolide resistance associated mutations (MRM) and fluoroquinolone resistance associated mutations (QRM) in patients infected with M.
View Article and Find Full Text PDFAim: The tubercle of Zuckerkandl (TZ) is considered to be the fusion point of the ultimabranchial body and the median thyroid body. We aimed to evaluate the frequency of TZ and its relationship with other anatomical variations and recurrent laryngeal nerve (RLN) paralysis.
Material And Methods: Data regarding the thyroid lobe and RLN of patients with thyroidectomy between June 2016 and December 2019 were retrospectively evaluated.
Objectives: This study aims to investigate the relationships among factors affecting complication development and premature physeal closure (PPC) in patients undergoing surgical treatment within 12 h of the time of injury.
Patients And Methods: Between January 2015 and January 2021, a total of 46 patients (37 males, 9 females; mean age: 11.9±2.
Int J Gynaecol Obstet
December 2024
Objective: To evaluate the maternal and fetal outcomes of 12 pregnant women diagnosed with pemphigoid gestationis, in conjunction with a review of the literature.
Methods: A retrospective review was conducted on the medical records of 12 patients diagnosed with pemphigoid gestationis who presented between January 2014 and January 2024.
Results: Twelve pregnant patients with pemphigoid gestationis were included in the study.
Background: Virtual games developed for educational purposes have an important place in the education of nursing students.
Purpose: This study was designed to investigate the experiences of nurse educators regarding the use of virtual games in nursing education.
Methods: A descriptive qualitative design was used in this research, which was conducted between June and August 2022.
Sodium-glucose cotransporter-2 inhibitors (SGLT2-i) have been shown to reduce risks of clinical events in patients with heart failure (HF). However, data on the use of SGLT2-i in patients with left ventricular assist devices (LVADs) are scarce. We thought to assess the efficacy and safety of SGLT2-i in patients with LVADs.
View Article and Find Full Text PDFEur J Cardiothorac Surg
November 2024
The structural and functional integrity of conduits used for coronary artery bypass grafting is critical for graft patency. Disruption of endothelial integrity and endothelial dysfunction are incurred during conduit harvesting subsequent to mechanical or thermal injury and during conduit storage prior to grafting, leading to acute thrombosis and early graft failure. Late graft failure, in particular that of vein grafts, is precipitated by progressive atherogenesis.
View Article and Find Full Text PDFIdentification of a new pathogenic ASTN1 p.R517X (c.1549C>T) variant in a 7-month-old girl using gene sequencing methods and bioinformatics analysis.
View Article and Find Full Text PDFBackground: Subcutaneous heparin injections sometimes cause pain, ecchymosis, and hematoma. The prevalence of complications depends on the injection site, technique, and drug absorption. This study investigated the effect of two types of subcutaneous heparin injections on pain, ecchymosis, and hematoma as well as drug absorption rates.
View Article and Find Full Text PDFNorth Clin Istanb
November 2024
Pheochromocytomas are potentially malignant and may manifest with vascular thrombi. We present the treatment of a patient with pheochromocytoma and tumor thrombosis of the renal vein and inferior vena cava. A thirty-eight-year-old male patient was admitted complaining of abdominal pain and headache.
View Article and Find Full Text PDFTympanal organ plays an important role for insects in perception, fleeing from predators, defense, finding and choosing sex, communication, and carrying out social interactions. It is positioned in different areas among various insect groups. Tympanal organ is in the abdomen in the Pyralidae family, many species of which are harmful to economically important agricultural products and storage products.
View Article and Find Full Text PDFEur Arch Otorhinolaryngol
December 2024
Introduction: Pathogenic variants in several genes encoding components of the mitochondrial respiratory chain have been linked to various clinical phenotypes such as progressive cavitating leukoencephalopathy (PCL). The association between PCL, previously linked to numerous gene mutations in the literature, and the gene mutations has emerged as a recent and noteworthy discovery. PCL is generally diagnosed in symptomatic patients during the early years of life, mostly in infancy.
View Article and Find Full Text PDFAtrial septal defects (ASD) divert flow from systemic to pulmonary circulation, and some degree of plasma volume expansion and neurohormonal activation are necessary to maintain the effective circulatory volume. The aim of the present study was to understand the patterns of neurohormonal activation in ASD patients. 16 ASD patients and 10 controls were enrolled.
View Article and Find Full Text PDFSARS-CoV-2 infection is associated with long-lasting neurological symptoms, although the underlying mechanisms remain unclear. Using optical clearing and imaging, we observed the accumulation of SARS-CoV-2 spike protein in the skull-meninges-brain axis of human COVID-19 patients, persisting long after viral clearance. Further, biomarkers of neurodegeneration were elevated in the cerebrospinal fluid from long COVID patients, and proteomic analysis of human skull, meninges, and brain samples revealed dysregulated inflammatory pathways and neurodegeneration-associated changes.
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