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.

Evaluation of the effects of thyroid functions on frailty in geriatric patients using the Edmonton, SOF and FRAIL Scales.

Unlabelled: BACKGROUND AND RATIONALE: Thyroid dysfunction in older adults often mimics the signs of aging, impacting metabolism and overall physiological balance. While age-related chronic conditions have been extensively studied, the relationship between thyroid function and frailty remains underexplored.

Objective: This study aimed to evaluate the effects of thyroid dysfunction on frailty among individuals aged 65 years and older.

Sialidosis type 1 in a Turkish family: a case report and review of literatures.

Objectives: Sialidosis type 1 is a rare autosomal recessive lysosomal storage disorder caused by pathogenic variants in the gene, which encodes the sialic acid-degrading enzyme α-neuraminidase. Sialidosis type 1 is a milder form with a late-onset phenotype, characterized by progressive myoclonic epilepsy and ataxia with cherry-red spots. Sialidosis type 2 is an early-onset and more severe form presenting with dysmorphic features, hepatosplenomegaly and cognitive delay.

Gastroprotection in Heart Failure and Outcomes: A Systematic Review of Proton Pump Inhibitors and Histamine-2 Receptor Antagonists.

Purpose: The management of heart failure (HF) frequently includes gastroprotection via proton pump inhibitors (PPIs) or histamine-2 receptor antagonists (H2RAs). This systematic review evaluates their impact on HF outcomes, including exacerbation, hospitalization, mortality, and major adverse cardiac events (MACE).

Methods: In accordance with PRISMA guidelines, a complete search across databases such as PubMed/Medline, Scopus, and Web of Science was conducted until December 10, 2023.

A new technique for stress urinary incontinence without using vaginal mesh.

Stress urinary incontinence (SUI) is a fairly common disease among women. Synthetic meshes are frequently used in midurethral sling procedures due to the high long-term success rates. Because of the publications about vaginal mesh complications in recent years, urogynecologists are turning to techniques without mesh.

Mutation Case Report and Literature Review.

Introduction: Mutations in the RMND1 gene that cause defects in the mitochondrial respiratory chain result in a highly variable phenotypic presentation. The protein required for meiotic nuclear division 1 homolog (RMND1) is localized to the inner mitochondrial membrane and is encoded by the nuclear genome.

Case Presentation: We report a new patient from a consanguineous family who was severely affected by a previously described combined oxidative phosphorylation deficiency 11 and was treated rapidly due to early diagnosis.

The Impact of Hormone Replacement Therapy on the Risk of Heart Failure in Postmenopausal Women: A Meta-Analysis of Clinical and Observational Studies.

Purpose: The relationship between heart failure (HF) and hormone replacement therapy (HRT) in postmenopausal women remains unclear. This paper aimed to elucidate the association between HRT and HF outcomes in postmenopausal women by scrutinizing evidence from clinical trials and observational studies.

Methods: The meta-analysis was systematically executed following the PRISMA guidelines to include studies identified from the electronic databases, including PubMed, EMBASE, EBSCO, ICTRP, and NIH clinical trials.

Diagnosis Rates Through Cancer Screening Programs in Patients with Breast Carcinoma.

Aim: This study investigated whether breast cancer patients had ever applied for Cancer Early Diagnosis Screening and Training Centers (KETEM).

Method: This study, conducted from November 2020 to April 2021, adopts a cross-sectional research design and is planned as a survey study. The "Diagnosis Rates with Screening Programs in Breast Cancer Patients" survey was conducted on women over 45 who were diagnosed with breast cancer in the Medical Oncology Clinic of İzmir Katip Çelebi University Atatürk Education and Research Hospital.

Evaluation of risk factors, functionalities, and quality of life in patients with pediatric acute arterial ischemic stroke.

Background: This study aimed to evaluate the etiology and prognosis of patients followed up for pediatric acute arterial ischemic stroke.

Methods: The clinical characteristics and etiology of patients aged 1 month-18 years who had acute arterial ischemic stroke between January 2010 and December 2020 were retrospectively evaluated. At last follow-up, the patients` functionality (Barthel Index, Functional Independence Measure), quality of life (SF-36 questionnaire), and motor outcomes (Gross Motor Function Classification System) were recorded prospectively/crosssectionally.

Comparing the shear bond strength of veneering materials to the PAEKs after surface treatments.

Background: This study aimed to evaluate the impact of various surface treatments on the shear bond strength (SBS) of polyetheretherketone (PEEK) and polyetherketoneketone (PEKK) polymers to indirect laboratory composite (ILC) and lithium disilicate ceramic (LDC) veneering materials.

Methods: Polymer specimens (7 × 7x2 mm) were sectioned from PEEK and PEKK discs (N = 294) and randomly allocated to 7 groups (n = 20); untreated (Cnt), plasma (Pls), 98% sulfuric acid (Sa), sandblasting with 110 µm AlO (Sb), tribochemical silica coating with 110 µm silica modified AlO (Tbc), Sb + Sa, Tbc + Sa. Scanning electron microscopy assessments were performed on one sample of each treatment group, and veneering materials were applied to the remaining specimens (n = 10).

Evaluation of clinical and electroencephalographic findings in patients with early childhood epilepsy and inborn errors of metabolism.

Introduction: Epilepsy is one of the leading chronic diseases of childhood, and an underlying IEM is an etiology that can easily be overlooked. The aim of this study was to determine the frequency of metabolic disease in patients diagnosed with epilepsy in the first two years of life, as well as to determine the clinical, radiological, and electroencephalographic (EEG) characteristics of the metabolic disease subtypes associated with epilepsy and evaluate treatment response in our study.

Materials And Methods: The records of patients diagnosed with epilepsy before the age of 2 years in our pediatric neurology clinic between 2014 and 2021 were reviewed retrospectively.

Acute Middle Cerebral Artery Occlusion Detection Using Mobile Non-Imaging Brain Perfusion Ultrasound-First Case.

Mobile brain perfusion ultrasound (BPU) is a novel non-imaging technique creating only hemispheric perfusion curves following ultrasound contrast injection and has been specifically designed for early prehospital large vessel occlusion (LVO) stroke identification. We report on the first patient investigated with the SONAS system, a portable point-of-care ultrasound system for BPU. This patient was admitted into our stroke unit about 12 h following onset of a fluctuating motor aphasia, dysarthria and facial weakness resulting in an NIHSS of 3 to 8.

A mobile battery-powered brain perfusion ultrasound (BPU) device designed for prehospital stroke diagnosis: correlation to perfusion MRI in healthy volunteers.

Background: Early prehospital stroke identification is crucial for goal directed hospital admission especially in rural areas. However, clinical prehospital stroke scales are designed to identify any stroke but cannot sufficiently differentiate hemorrhagic from ischemic stroke, including large vessel occlusion (LVO) amenable to mechanical thrombectomy. We report on a novel small, portable and battery driven point-of-care ultrasound system (SONAS®) specifically developed for mobile non-invasive brain perfusion ultrasound (BPU) measurement after bolus injection of an echo-enhancing agent suitable for the use in prehospital stroke diagnosis filling a current, unmet and critical need for LVO identification.

Recurrent vertebrobasilar strokes and transient-ischemic attacks with challenging workup: Case report.

Detecting the stroke etiology in young patients can be challenging. Among others, determining causality between ischemic stroke and patent foramen ovale (PFO) remains a complicated task for stroke neurologists, given the relatively high prevalence of PFOs. Thorough diagnostic workup to identify incidental vascular risk factors and rare embolic sources is crucial to avoid premature PFO closure suggesting successful secondary stroke prevention.

Analysis and Differences of the Neurosurgical Complications During COVID-19 Pandemic.

Objectives: The objective of the study was to analyze the complications of neurosurgical operations during the COVID-19 pandemic by comparing them with the complications observed in the pre-pandemic period.

Methods: Two groups were formed: (1) Patients who were operated in the 5-month period of the pandemic (March-July 2020) and (2) those who were operated the same operations in the same period 1 year before (March-July 2019). Demographics, characteristics, medical follow-up data, complications, and outcome compared between the groups.

Assessment of the Appropriateness of Prescriptions in a Geriatric Outpatient Clinic.

Objectives: Appropriateness of the geriatric outpatients' medications needs special attention due to risks of falls, fractures, depression, hospital admissions and mortality. This study aimed to identify current practice on medication usage by using the 2 version of "Screening Tool of Older People's Potentially Inappropriate Prescriptions" and "Screening Tool to Alert Doctors to Right Treatment" criteria and affecting factors for the Turkish population.

Materials And Methods: This cross-sectional study was conducted between September 2015 and May 2016 at a university research and training hospital's geriatric outpatient clinic.

Index event of cerebral amyloid angiopathy (CAA) determines long-term prognosis and recurrent events (retrospective analysis and clinical follow-up).

Background: The modified Boston criteria (mBC) define the probability for the diagnosis of cerebral amyloid angiopathy (CAA). Its initial clinical presentation differs from asymptomatic cerebral microbleedings (cMBs), acute ischemic stroke (AIS), cortical hemosiderosis (cSS), to lobar ICH (lICH).

Methods: Retrospective analyses and clinical follow-ups of individuals with at least mBC "possible" CAA from 2005 to 2018.

Cerebrovascular Risk Factors in Possible or Probable Cerebral Amyloid Angiopathy, Modifier or Bystander?

Cerebral amyloid angiopathy (CAA) is a frequent cause of atypical intracerebral hemorrhage (ICH) in the elderly. Stroke risk factors such as arterial hypertension (AHT), atrial fibrillation (AFib), diabetes mellitus (DM), and renal dysfunction (RD) are increasingly apparent in these patients. In this retrospective study, we analyzed the presence of these stroke risk factors in different initial CAA presentations comprising cerebral microbleeds (CMB), acute ischemic stroke (AIS), cortical superficial hemosiderosis (cSS), or lobar ICH (LICH) and evaluated their influence on the initial clinical presentation of patients with CAA.

Lumbar Intradiscal Ozone Chemonucleolysis Applied Together with the Epidural Steroid Treatment.

Objectives: Intradiscal ozone treatment is a minimally-invasive method that can be applied to patients who have low back pain and do not respond to conservative treatment. This retrospectively designed study aimed to evaluate its clinical efficacy, adverse effects, or complication rates.

Methods: Patients with lumbar degenerative disc disease (LDDD) who underwent intradiscal O-O treatment between January 2016 and April 2018 were included in the study.

Acromesomelic dysplasia-Maroteaux type, nine patients with two novel variants.

Objectives: Acromesomelic dysplasia, type Maroteaux, is an autosomal recessive skeletal dysplasia caused by biallelic loss of function variations of , which encodes a cartilage regulator C-type natriuretic peptide receptor B. variations impair skeletal growth. It is a rare type of dwarfism characterized by shortening of the middle and distal segments of the limbs with spondylar dysplasia.

Retrospective evaluation of patients with X-linked adrenoleukodystrophy with a wide range of clinical presentations: a single center experience.

Objectives: X-linked adrenoleukodystrophy (X-ALD), is a peroxisomal inborn error of metabolism caused due to the loss of function variants of gene that leads to accumulation of very long chain fatty acids (VLCFAs) in several tissues including the neurological system. Childhood cerebral X-ALD (CCALD) is the most common and severe form of X-ALD, if left untreated. Allogenic hematopoietic stem cell transplantation (HSCT) is the only available therapy that halts neurological deterioration in CCALD.

MAN1B1-CDG: novel patients and novel variant.

Objectives: Congenital disorders of glycosylation (CDGs) are a group of genetic disorders due to hypoglycosylation of proteins and lipids. A type I pattern is associated with defects in glycan assembly and transfer (CDG-I; cytosol; and endoplasmic reticulum defects), a type II pattern is seen in processing defects of the Golgi apparatus. MAN1B1-CDG is an autosomal recessive CDG-II due to mutations in the 1,2-mannosidase gene (MAN1B1), mainly characterized by psychomotor disability, facial dysmorphism, truncal obesity, and hypotonia.