MODY

INTRODUCTION: Maturity-Onset Diabetes of the Young (MODY) is an unusual type of diabetes often missed in clinical practice, especially in Africa. Treatment decisions for MODY depend on a precise diagnosis, only made by genetic testing. We aimed to determine MODY knowledge among Nigerian healthcare professionals (HCPs), their perceptions, and barriers to the implementation of genetic testing in diabetes patients. METHODS: A cross-sectional survey was conducted among doctors and nurses in three levels of public and private healthcare institutions in Ibadan, Nigeria, from December 2018 to June 2019...

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Diabetes mellitus (DM) represents a problem for the healthcare system worldwide. DM has very serious complications such as blindness, kidney failure, and cardiovascular disease. In addition to the very bad socioeconomic impacts, it influences patients and their families and communities. The global costs of DM and its complications are huge and expected to rise by the year 2030. DM is caused by genetic and environmental risk factors. Genetic testing will aid in early diagnosis and identification of susceptible individuals or populations using ATP-sensitive potassium (KATP ) channels present in different tissues such as the pancreas, myocardium, myocytes, and nervous tissues...

Chromosome 17q12 deletion syndrome (OMIM #614527) is a rare genetic disorder associated with a heterozygous 1.4-1.5 Mb deletion at chromosome 17q12, leading to a spectrum of clinical manifestations, including kidney abnormalities, neurodevelopmental delay, maturity-onset diabetes of the young type 5 (MODY5), and Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. We present the case of a 14-year-old Korean female diagnosed with chromosome 17q12 deletion syndrome, confirmed by chromosomal microarray analysis...

INTRODUCTION: There is a lack of evidence that the benefits of screening for atrial fibrillation (AF) outweigh the harms. Following the completion of the Screening for Atrial Fibrillation with ECG to Reduce stroke (SAFER) pilot trial, the aim of the main SAFER trial is to establish whether population screening for AF reduces incidence of stroke risk. METHODS AND ANALYSIS: Approximately 82 000 people aged 70 years and over and not on oral anticoagulation are being recruited from general practices in England...

We investigate the effect of a magnetic field on the band structure of bilayer graphene with a magic twist angle of 1.08°. The coupling of a tight-binding model and the Peierls phase allows the calculation of the energy bands of periodic two-dimensional systems. For an orthogonal magnetic field, the Landau levels are dispersive, particularly for magnetic lengths comparable to or larger than the twisted bilayer cell size. A high in-plane magnetic field modifies the low-energy bands and gap, which we demonstrate to be a direct consequence of the minimal coupling...

Theoretical examination based on first principle computation has been conducted for van der Waals heterostructure (vdwHS) GaAlS2/HfS2 including structural, optoelectronic and photocatalytic characteristics. From the adhesion energy calculation, the AB configuration of GaAlS2/HfS2 vdwHS is the most stable. A type-II GaAlS2/HfS2 vdwHS is a dynamically and thermally stable structure. The band edge position, projected band, and projected charge densities verify the type-II alignment of GaAlS2/HfS2 vdwHS. For GaAlS2/HfS2, GaAlS2 is acting as a donor and HfS2 is acting as an acceptor ensured by the charge density difference plot...

Dust pollution poses significant risks to human health, air quality, and food safety, necessitating the identification of dust occurrence and the development of dust susceptibility maps (DSMs) to mitigate its effects. This research aims to detect dust occurrence using satellite images and prepare a DSM for Bushehr province, Iran, by enhancing the attentive interpretable tabular learning (TabNet) model through three swarm-based metaheuristic algorithms: particle swarm optimization (PSO), grey wolf optimizer (GWO), and hunger games search (HGS)...

OBJECTIVE: Maturity-onset diabetes of the young (MODY) occurs due to mutations in genes involved in pancreatic beta cell function and insulin secretion, has heterogeneous clinical and laboratory features, and account for 1-5% of all diabetes cases. The prevalence and distribution of MODY subtypes vary between countries. The aim of this study was to evaluate the clinical and laboratory characteristics, mutation distribution, and phenotype-genotype relationship in a large case series of pediatric Turkish patients genetically diagnosed with MODY...

Pancreas serves endocrine and exocrine functions in the body; thus, their pathology can cause a broad range of irreparable consequences. Endocrine functions include the production of hormones such as insulin and glucagon, while exocrine functions involve the secretion of digestive enzymes. Disruption of these functions can lead to conditions like diabetes mellitus and exocrine pancreatic insufficiency. Also, the symptoms and causality of pancreatic cancer very greatly depends on their origin: pancreatic ductal adenocarcinoma is one of the most fatal cancer; however, most of tumor derived from endocrine part of pancreas are benign...

PURPOSE: To study prostate specific membrane antigen - positron emission tomography (Ga68 PSMA-PETCT) based patterns of relapse at biochemical failure (BCF) after prostate-only radiotherapy (PORT) in high-risk (HR) prostate cancer and its implications on pelvic contouring recommendations. METHODS AND MATERIALS: Patients with clinico-radiological high-risk node-negative prostate cancer treated with curative PORT and androgen deprivation therapy (ADT), either within the POP-RT randomised trial or off trial, who underwent a Ga68 PSMA-PETCT upon BCF were included...

OBJECTIVE: To characterize differences between urologists and advanced practice providers (APPs) in utilization of cystoscopy for hematuria. METHODS: We identified patients initially evaluated for hematuria by a urologist or urology APP between 2015 and 2020 in the MarketScan® Research Databases. We determined whether they received a cystoscopy within six months of their urology visit and the number of days until cystoscopy. We used multivariable regression to analyze the association between these outcomes and whether the urology clinician was an advanced practice registered nurse (APRN), physician assistant (PA), or urologist...

Aerosol optical depth (AOD) serves as a crucial indicator for assessing regional air quality. To address regional and urban pollution issues, there is a requirement for high-resolution AOD products, as the existing data is of very coarse resolution. To address this issue, we retrieved high-resolution AOD over Kanpur (26.4499°N, 80.3319°E), located in the Indo-Gangetic Plain (IGP) region using Landsat 8 imageries and implemented the algorithm SEMARA, which combines SARA (Simplified Aerosol Retrieval Algorithm) and SREM (Simplified and Robust Surface Reflectance Estimation)...

Fodder radish is widely used as a livestock supplement, however, the nutritional value of fodder radish under different water conditions remains insufficiently understood. This study aimed to assess the chemical components and in vitro, ruminal dry matter degradability of two fodder radish genotypes (Endurance and Line 2) subjected to three irrigation regimes: well-watered (W1), moderate water stress (W2), and severe water stress (W3). The analysis revealed statistically significant effects of the main factors on the chemical composition and estimates of fodder radish leaves and tubers, particularly in terms of Crude Protein (CP) and Ether Extract (EE) across genotypes...

Amyand's hernia is defined as the presence of an appendix contained within an inguinal hernia. An inguinal hernia is the protrusion of a small or large bowel through a peritoneal defect of the groin. In rare cases, the appendix can become incarcerated or strangulated within the hernia, cutting off the blood supply to the organ. If incarcerated, the appendix is at risk for strangulation, which can lead to rupture and cause worsening of symptoms and/or collapse. We report a case of a 76-year-old male with a history of inguinal hernia repair 30 years prior, who presented with 30 days of intermittent right lower quadrant pain and unintentional weight loss...

BACKGROUND: Isoniazid (INH) is an important drug in many TB regimens, and unfavorable treatment outcomes can be caused by suboptimal pharmacokinetics. Dose adjustment can be personalized by measuring peak serum concentrations; however, the process involves cold-chain preservation and laboratory techniques such as liquid chromatography (LC)/mass spectrometry (MS), which are unavailable in many high-burden settings. Urine spectrophotometry could provide a low-cost alternative with simple sampling and quantification methods...

Breast cancer, a leading cause of female mortality due to delayed detection owing to asymptomatic nature and limited early diagnostic tools, was investigated using a multi-modal approach. Plasma-derived small EVs from breast cancer patients (BrCa, n = 74) and healthy controls (HC, n = 30) were analyzed. Small EVs (n = 104), isolated through chemical precipitation, underwent characterization via transmission electron microscopy (TEM) and nanoparticle tracking analysis (NTA)...

Understanding how ecosystems respond and adapt to drought has become an urgent issue as drought stress intensifies under climate change, yet this topic is not fully understood. Currently, conclusions on the response of ecosystems in different regions to drought disturbance are inconsistent. Based on long MODIS data and observed data, this study systematically explored the relationships between ecosystem patterns, structures and functions and drought, taking a typical climate change-sensitive area and an ecologically fragile area-the Yellow River Basin-as a case study...

BACKGROUND AND AIM: To investigate the prognostic implication of body mass index (BMI) on clinical outcomes after acute ischemic and hemorrhagic stroke. METHODS: The subjects of the study included adult patients with available baseline body weight and height data who had suffered an acute stroke and were registered in the Japan Stroke Data Bank-a hospital-based, multicenter stroke registration database-between January 2006 and December 2020. The outcome measures included unfavorable outcomes defined as a modified Rankin Scale [mRS] score of 5-6 and favorable outcomes (mRS 0-2) at discharge, and in-hospital mortality...

UNLABELLED: The cGAS-STING signaling pathway has emerged as a key mediator of inflammation. However, the roles of chloride homeostasis on this pathway are unclear. Here, we uncovered a correlation between chloride homeostasis and cGAS-STING signaling. We found that dysregulation of chloride homeostasis attenuates cGAS-STING signaling in a lysosome-independent manner. Treating immune cells with chloride channel inhibitors attenuated 2'3'-cGAMP production by cGAS and also suppressed STING polymerization, leading to reduced cytokine production...