Clinical features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants.

Unlabelled: The RASopathies are a group of disorders resulting from a germline variant in the genes encoding the Ras/mitogen-activated protein kinase pathway. These disorders include Noonan syndrome (NS), cardiofaciocutaneous syndrome (CFC), Costello syndrome (CS), Legius syndrome (LS), and neurofibromatosis type 1 (NF1), and have overlapping clinical features due to RAS/MAPK dysfunction. In this study, we aimed to describe the clinical and molecular features of patients exhibiting phenotypic manifestations consistent with RASopathies.

Developing standards for the implementation of stepped care in child and youth mental health service settings: protocol for a multi-method, delphi-based study.

Introduction: Canadian youth mental health (YMH) systems have the potential to urgently tackle the mental health treatment gap currently impacting young people, and stepped care (SC) is one model that can address this need. The adoption of SC models can guide the development of better-connected YMH systems by simplifying transitions and care pathways. To do so requires robust standards that are co-created across stakeholder groups, including with lived experience experts, to ensure the effective implementation of SC models.

Urinary fatty acid-binding protein 4 is a promising biomarker for glomerular damage in patients with diabetes mellitus.

Aims/introduction: Fatty acid-binding protein (FABP) 4, which acts as an adipokine secreted by adipocytes, macrophages, and capillary endothelial cells, is expressed in injured glomerular cells. It has been reported that urinary (U-) FABP4 is associated with renal dysfunction and proteinuria in several glomerular kidney diseases. However, the clinical significance of U-FABP4 in diabetic kidney disease (DKD) remains undetermined.

Concurrent Evaluation of Restless Leg Syndrome, Neuropathic Pain, and Quality of Life in Anti-neutrophil Cytoplasmic Antibody-Associated Vasculitis: Single-Center Data.

Objective This study aims to investigate the frequency of restless leg syndrome (RLS) and neuropathic pain (NeP) and their effects on the quality of life (QoL) of patients with anti-neutrophil cytoplasmic antibody-associated vasculitis (AAV). Methods The study included 30 patients with AAV and 30 healthy volunteers. Demographic and clinical parameters and laboratory data were recorded.

The Effect of Modafinil Treatment on Cravings in Methamphetamine Use Disorder.

There is a need for treatments that can reduce cravings in methamphetamine use disorder (MUD), which is trending upwards worldwide. The aim of this study was to evaluate the effect of modafinil treatment on substance craving in patients with MUD. The study included 100 patients with MUD who were being treated in an inpatient detoxification center.

Atherogenic Dyslipidemia Is Critically Related to Aortic Complicated Lesions in Cryptogenic Stroke.

Aims: Atherogenic dyslipidemia (AD) is regarded as a residual risk of cardiovascular diseases characterized by low high-density lipoprotein cholesterol (HDL-C) and high triglyceride (TG) levels and related to the intracranial stenosis of atheromatous thrombotic brain infarction (ATBI). Further, atherosclerosis is possibly related to another stroke subtype, including cryptogenic stroke (CS). In particular, an aortic complicated lesion (ACL) is a notable embolic source of CS, since recurrence of aortogenic brain embolism is not rare.

DNA repair protein RAD50 is involved in the streptozotocin-induced diabetes susceptibility of mice.

Streptozotocin (STZ) is widely used as a pancreatic beta-cell toxin to induce experimental diabetes in rodents. Strain-dependent variations in STZ-induced diabetes susceptibility have been reported in mice. Differences in STZ-induced diabetes susceptibility are putatively related to pancreatic beta-cell fragility via DNA damage response.

Cholangiocyte organoids for disease, cancer, and regenerative medicine.

The biliary tract is a ductal network comprising the intrahepatic (IHBDs) and extrahepatic bile duct (EHBDs). Biliary duct disorders include cholangitis, neoplasms, and injury. However, the underlying mechanisms are not fully understood.

Dual single‑nucleotide polymorphism biomarker combination for opioid selection to treat cancer pain.

We have been exploring biomarkers that could help physicians select the appropriate opioid for individualized treatment of cancer pain. Recently, we identified a single nucleotide polymorphism (SNP) of (rs17809012) as one such biomarker that was significantly associated with the analgesic effect of morphine. The current study measured the plasma concentrations of chemokines/cytokines in pre-treatment plasma samples of a total of 138 patients who were randomized to receive morphine (n=70) or oxycodone (n=68).

Bridging the Gap Between Diabetes and Cardiovascular Disease: A Comparative Review of Different Glucagon-Like Peptide-1 (GLP-1) Agonists: Efficacy, Safety, and Patient Outcomes.

Diabetes mellitus, particularly Type 2 diabetes (T2DM) remains a significant concern globally with an increase in prevalence reported in recent years. If diabetes is not managed properly, it can lead to several complications including an increased risk of cardiovascular disease (CVD). Cardiovascular complications such as coronary heart disease, peripheral artery disease, and stroke are common among individuals with diabetes.

Design of buffer property for the new enrichment method of circulating tumor cell based on immunomagnetic-negative separation.

Metastasis is a significant contributor to cancer-related mortality and a critical issue in cancer. Monitoring the changes in circulating tumor cells (CTCs) with metastatic potential is a valuable prognostic and predictive biomarker. CTCs are a rare population in the peripheral blood of patients with cancer.

Evaluation of angiotensin converting enzyme insertion/deletion, alpha adducin (ADD1) G460W, and IL-10 gene polymorphisms, and determination of prognostic effects in idiopathic sudden sensorineural hearing loss.

Objective: The aim of this study was to examine angiotensin converting enzyme (ACE) insertion/deletion, alpha adducin, and interleukin-10 (IL-10) gene polymorphisms (GPs) in terms of both idiopathic sudden sensorineural hearing loss (ISSNHL) risk and their potential prognostic effects.

Methods: The study group consisted of 70 patients and the control group consisted of 50 patients. Venous blood samples were analyzed for relevant GPs via kompetitive allele-specific polymerase chain reaction.

Association Between Sleep Duration and Cardiovascular Disease Among Asian Americans.

Background: Cardiovascular disease (CVD) prevalence varies widely among Asian American adults. The American Heart Association added healthy sleep to its metrics to define ideal cardiovascular health. Little is known about the association between sleep and CVD prevalence among Asian subgroups.

Transforming Households with Refraction and Innovative Financial Technology (THRIFT): study protocol for a randomised controlled trial of vision interventions and online banking among the elderly in Kurigram.

Introduction: Presbyopia, difficulty in seeing close-ups, affects a billion people globally. Mobile financial services (MFS) have been mandated since January 2021 for Bangladesh government social safety net payments, including old age allowance (OAA) and widow allowance (WA). We report the protocol for the Transforming Households with Refraction and Innovative Financial Technology randomised trial assessing the impact on the use of online banking of providing presbyopic safety net beneficiaries with reading glasses, and brief smartphone and mobile banking app training.

The perspectives and knowledge of patients with cancer on mpox and mpox vaccination: a cross-sectional study.

Objective: The recent outbreak of monkeypox (mpox) poses significant public health challenges, particularly for immunocompromised populations such as patients with cancer. However, misinformation poses a significant challenge during new outbreaks for patients with chronic diseases, as observed during the COVID-19 pandemic. Therefore, we aimed to assess perspectives and knowledge of patients with cancer on mpox and their willingness to receive mpox vaccination.

The relationship between long COVID, labor productivity, and socioeconomic losses in Japan: A cohort study.

Objectives: We examined shifts in labor productivity and their economic ramifications among adult patients with long COVID in Japan.

Methods: A total of 396 patients were categorized into three groups based on symptom progression: non-long COVID, long COVID recovered, and long COVID persistent. Patient-reported outcomes were assessed at three time intervals: 3, 6, and 12 months after COVID-19 diagnosis.

Choosing the Correct Guide Video on Central Venous Catheter Placement From YouTube.

Objective Proper preparation is necessary before performing certain procedures on a patient. Recently, videos created using social media content have been used as a preparation method. This has become particularly important in medical education since the COVID-19 pandemic.

The Awareness of Methylphenidate and Its Use: Experiences and Perceptions of Medical Students.

Background and objective Over the past decade, the use of psychostimulants typically prescribed for attention-deficit/hyperactivity disorder (ADHD), such as methylphenidate (MP), has become popular among undergraduate students to enhance their academic performance. Despite potential health and legal repercussions, the misuse of these medications has become a significant public health issue, not only in the general population but particularly among students in medical schools across Turkey. This study investigated the prevalence of MP misuse among Turkish medical students and the factors contributing to it.

Japan Diabetes Complications Study: Revisiting one of the first large-scale clinical studies in East Asians with diabetes.

This review highlights the significance of the Japan Diabetes Complications Study (JDCS), one of the earliest large-scale studies of people with type 2 diabetes outside Europe and the United States, in understanding type 2 diabetes mellitus among East Asian populations, particularly in Japan. Historically, large-scale clinical studies on type 2 diabetes mellitus have predominantly focused on Western populations, despite East Asians comprising the largest proportion of diabetic patients globally. The JDCS, which was initiated in 1996, enrolled 2,033 Japanese type 2 diabetes mellitus patients.

Translation and Cross-Cultural Adaptation: A Critical Step in Multi-National Survey Studies.

Survey studies are valuable tools that can quickly and cost-effectively collect data from diverse populations across different cultures and locations. When conducted across multiple countries, careful translation and cross-cultural adaptation are necessary to maintain the validity and reliability of the findings. This point is particularly important for patient-facing questionnaires, especially in fields like psychology and sexual medicine.

Urinary continence outcomes after robot-assisted laparoscopic radical prostatectomy: Significance of anterior reconstruction.

Objective: Urinary continence after radical prostatectomy is a crucial aspect of patient quality of life. The aim of this study was to identify the factors influencing urinary continence after robot-assisted laparoscopic radical prostatectomy, focusing on the role of anterior reconstruction.

Methods: We collected clinical data from 375 patients at a single institution.

Glucocorticoid tapering pace in microscopic polyangiitis and granulomatosis with polyangiitis in Japanese real-world practice: A propensity score-matched retrospective cohort study from the J-CANVAS registry.

Objective: To assess the prevalence and outcomes among regimens of glucocorticoid tapering for microscopic polyangiitis (MPA) and granulomatosis with polyangiitis (GPA) in real-world practice.

Methods: We retrospectively examined the Japan Collaborative Registry of ANCA-associated Vasculitis (J-CANVAS) registry, and evaluated the prevalence of glucocorticoid tapering regimens in the PEXIVAS trial. In patients with newly diagnosed MPA and GPA, we compared outcomes among standard and reduced pace regimens.