Effects of miRNAs in inborn error of metabolism and treatment strategies.

Metabolism is the name given to all of the chemical reactions in the cell involving thousands of proteins, including enzymes, receptors, and transporters. Inborn errors of metabolism (IEM) are caused by defects in the production and breakdown of proteins, fats, and carbohydrates. Micro ribonucleic acids (miRNAs) are short non-coding RNA molecules, ⁓19-25 nucleotides long, hairpin-shaped, produced from DNA.

Analysis of Patients with Urethral Stricture in Kidney Transplant Recipients.

Background: We aimed to assess the rates of urethral stricture in transplant recipients, analyse patients with urethral strictures and present the posttreatment follow-up outcomes.

Methods: Between 2004 and 2023, a retrospective examination was conducted on kidney transplant recipients who underwent removal of ureteral catheters through retrograde cystoscopy at our facility or referred from external centres. The collected data encompassed patient demographics, pre- and posttransplant maximum urinary flow rate, specifics of stenosis, surgical interventions and outcomes from a 1-year follow-up.

Paratesticular/inguinal SMARCB1/INI1 deficient carcinomas with yolk sac tumour-like differentiation are aggressive somatic malignancies.

Aims: Extragonadal yolk sac tumour (YST) is rare, and may present a diagnostic challenge. YST differentiation was recently reported in some somatically derived tumours in the sinonasal location and in the female genital tract, together with a SMARCB1/INI1 loss. We report two paratesticular/inguinal tumours with striking morphological and immunohistochemical similarities with YST, further expanding the spectrum of extragonadal tumours with YST-like morphology and SMARCB1/INI1 loss.

Vascular Injury of Penetrating Trauma of the Extremities.

Physical examination and computed tomography angiography (CTA) are used for diagnosing arterial injury in extremity trauma. In recent years, CTA has been overused to obtain more objective data. Our study aimed to investigate the effect of using CTA for the management of patients with extremity penetrating injuries, specifically in cases where vascular injury was not detected during initial examination.

Comparison of long-term outcomes of infliximab and adalimumab therapy in biologic-naive patients with ulcerative colitis.

Background: To compare the long-term safety and efficacy of Adalimumab (ADA) and Infliximab (IFX) agents in biologic-naive patients with Ulcerative colitis (UC).

Methods: The key focus was on specific outcomes such as the requirement of hospitalization due to UC, colectomy, steroid administration, and severe infections that led to the discontinuation of therapy.

Results: Anti-TNF treatment was initiated in 208 of the 475 patients with ulcerative colitis.

Investigation of serum C-type natriuretic peptide concentration at diagnosis and remission in pediatric osteosarcomas.

Unlabelled: Osteosarcoma (OS) bone tumor of childhood although the etiology of OS has not been fully elucidated, there is evidence linking it with factors related to pubertal development. In recent years, plasma CNP concentration and height velocity in children and CNP have been implicated as an emerging new growth marker during childhood. We aimed to determine the serum NT-proCNP levels of patients with pediatric osteosarcoma and its relation with clinical-laboratory growth parameters and look for any correlation of serum NT-proCNP levels with different prognostic factors in childhood osteosarcoma.

The impact of implant design consistency in staged bilateral total knee arthroplasty on gait patterns and functional outcomes: A comparative analysis.

Background: The aim of this study was to assess whether there are any differences in plantar pressure distribution and gait cycle between patients with the same implant design and patients with different designs in staged bilateral TKA and to examine the impact of these differences on clinical and functional outcomes.

Methods: A retrospective review was conducted of all patients who underwent staged bilateral TKA. The patients were divided into two groups based on the prosthesis design used in both knees.

Celiac Disease in Social Media: Content analysis of YouTube videos.

Background: YouTube is an increasingly used platform for medical information. However, the reliability and validity of health-related information on celiac disease (CD) on YouTube has not been determined.

Objective: The aim of this study was to analyse the reliability and validity of CD-related YouTube videos.

Echocardiographic Evaluation of the Effect of Long-Term Methylphenidate Use on Cardiovascular Functions.

Objective: ADHD is one of the most common neurodevelopmental disorders, seen in children and adolescents, and is often treated with various pharmacological agents, especially methylphenidate. There are differing opinions in the literature regarding the cardiovascular safety of long-term methylphenidate use. Studies suggest that the drug may increase the risk of hypertension, myocardial infarction, ventricular arrhythmia, sudden cardiac death, cardiomyopathy, heart failure (HF), pulmonary hypertension, and stroke.

Ethical Use of Cadaveric Images in Anatomical Textbooks, Atlases, and Journals: A Consensus Response From Authors and Editors.

Nowadays, consent to use donor bodies for medical education and research is obtained from the body donors and their families before the donation. Recently, the International Federation of Associations of Anatomists (IFAA) published guidelines that could restrict the appearance of cadaveric images in commercial anatomical resources such as textbooks and other educational products. These guidelines state that the donor must expressly consent to using such images for this purpose.

Ambulatory blood pressure profiles of children with asthma compared to healthy controls.

Background: Studies suggest that asthma and hypertension may be comorbid conditions. Most of these studies are epidemiological research. However, data on the relationship between asthma and hypertension in childhood are limited.

A rare EGFR exon 19 insertion mutation in metastatic lung adenocarcinoma: a favorable response to afatinib.

Epidermal growth factor receptor (EGFR) mutations like the common L858R and exon 19 deletions are well studied, but rarer mutations like exon 19 insertions have received less attention. This case report describes a patient with this uncommon EGFR exon 19 insertion mutation in metastatic lung adenocarcinoma. A 51-year-old male nonsmoker with metastatic lung adenocarcinoma and a rare EGFR exon 19 insertion mutation experienced disease progression on initial carboplatin-pemetrexed chemotherapy.

S-Sulfocysteine's toxic effects on HT-22 cells are not triggered by glutamate receptors, nor do they involve apoptotic or genotoxicity mechanisms.

S-Sulfocysteine (SSC) is a metabolite derived from the metabolism of sulfur-containing amino acids. It has been implicated in neurotoxicity observed in children with sulfite oxidase deficiency. The aim of our study was to confirm the neurotoxic effects of SSC using a mouse hippocampal cell line (HT-22) and to investigate the role of apoptosis in these effects, especially in terms of caspase-3 activation and genotoxicity.

High-frequency laser therapy: a new alternative to physiotherapy in the treatment of cervical disk hernia.

Introduction: High-frequency laser therapy has been increasingly used in several musculoskeletal disorders, but there is still a lack of evidence for the usage of the device in neck pain. This study aimed to compare the effectiveness of physiotherapy, high-frequency laser, and exercise therapy methods in the treatment of pain in cervical disk herniation.

Methods: It was a multicenter, randomized, controlled clinical trial.

Hajdu-Cheney Syndrome, a Rare Cause of Acro-Osteolysis and Osteoporosis With Zoledronic Acid Experience.

Hajdu-Cheney syndrome (HCS), caused by a heterozygous gain of function variant of the NOTCH2 gene, is a rare skeletal dysplasia. Although the main presentation is acro-osteolysis, osteoporosis, and facial dysmorphism, having a wide range of clinical manifestations creates diagnostic difficulties. Here, a 15-year-old male patient with HCS who had no complaints until this age except for two short bone fractures and one vertebral collapse fracture due to a fall was reported.

Thalamo-insular cortex connections in the rat and human.

The insular cortex (ICx) has a role in large a variety of functions. Thalamus plays an important role in modulating cortical functions. The present study aims to show thalamic-ICx connections using the fluoro-gold (FG) tracing method in rats and diffusion tensoring-based tractography (DTI) in humans.

Strongyloides stercoralis infection in a patient initiating corticosteroid therapy for hypereosinophilia: A case report.

Strongyloides stercoralis (S. stercoralis) is a soil-transmitted nematode that is endemic to tropical and subtropical regions. S.

Assessing cognitive functions in non-neuropsychiatric childhood systemic lupus erythematosus: Cross-sectional study.

Objectives: Systemic Lupus Erythematosus (SLE) is an autoimmune disease characterized by multisystem, including neuropsychiatric, involvement. The nervous system is affected in 20-27 % of patients within approximately two years after diagnosis. This study aimed to examine neurocognitive impairment in childhood-onset SLE (cSLE) patients before the development of any neurological, psychiatric, or cognitive manifestations.

De-Escalation of Nodal Surgery in Clinically Node-Positive Breast Cancer.

Importance: Increasing evidence supports the oncologic safety of de-escalating axillary surgery for patients with breast cancer after neoadjuvant chemotherapy (NAC).

Objective: To evaluate the oncologic outcomes of de-escalating axillary surgery among patients with clinically node (cN)-positive breast cancer and patients whose disease became cN negative after NAC (ycN negative).

Design, Setting, And Participants: In the NEOSENTITURK MF-1803 prospective cohort registry trial, patients from 37 centers with cT1-4N1-3M0 disease treated with sentinel lymph node biopsy (SLNB) or targeted axillary dissection (TAD) alone or with ypN-negative or ypN-positive disease after NAC were recruited between February 15, 2019, and January 1, 2023, and evaluated.

Similar prognosis, different decisions: understanding parents about the possibility of termination of pregnancy due to fetal anomalies.

In this study, we investigated the factors that influence families' decision-making processes about whether to carry a pregnancy to term or to terminate it in cases of fetal anomalies. A questionnaire was administered to 25 participants who chose to terminate their pregnancy and 25 participants who chose to carry their pregnancy to term. Among the sociodemographic characteristics investigated, only monthly income significantly differed between the groups ( = .

[Clinical Impact of Current Variants in COVID-19 Patients: Clinical Characteristics in Variant EG.5].

The severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) virus has mutated at a high rate since the beginning of the pandemic, leading to the formation of different variants. Alpha, Beta, Gamma, Delta and Omicron have emerged as concerning variants identified by the World Health Organization (WHO). The Omicron variant and its sublineages became dominant worldwide in 2022.

[Investigation of Resistance Nodulation Division (RND) Efflux Pump and OPRD Expression Levels in Antibiotic Resistance of Clinical Pseudomonas aeruginosa Isolates].

The increasing antibiotic resistance in Pseudomonas aeruginosa, responsible for both community-acquired and hospital-acquired infections, is of global significance. The primary mechanisms contributing to resistance development in P.aeruginosa include the increased activity of efflux pumps, decreased permeability of outer membrane porins and the production of carbapenemases.