Utility of multimodal imaging in the clinical diagnosis of inherited retinal degenerations.

Inherited retinal degeneration (IRD) is a heterogeneous group of genetic disorders of variable onset and severity, with vision loss being a common endpoint in most cases. More than 50 distinct IRD phenotypes and over 280 causative genes have been described. Establishing a clinical phenotype for patients with IRD is particularly challenging due to clinical variability even among patients with similar genotypes.

Advancing precision medicine through the integration of clinical cardiovascular genetics - An Asian perspective.

Purpose: The integration of cardiovascular genetic (CVG) testing into clinical practice is gaining recognition, but its implementation in the Asian setting has not been widely reported. We present our experience developing a clinical CVG service and analyze its impact on patient care at our center.

Methods: In 2020, the National Heart Centre Singapore collaborated with SingHealth Duke-NUS Genomic Medicine Centre, to establish a comprehensive clinical CVG service.

Clinical Implementation of Nephrologist-Led Genomic Testing for Glomerular Diseases in Singapore: Rationale and Protocol.

Introduction: The early diagnosis and appropriate treatment of monogenic glomerular diseases can reduce kidney failure, avoid unnecessary investigations such as kidney biopsies and ineffective treatment with immunosuppressants, guide transplant decisions, and inform the genetic risks of their family members. Yet, genetic testing for kidney disease is underutilized in Singapore. We aimed to implement a nephrologist-led genetic service and evaluate the acceptance, adoption, utility, and cost-effectiveness of genetic testing for monogenic glomerular disease in Singapore.

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships.

Purpose: The Clinical Genome Resource (ClinGen) Gene Curation Expert Panels (GCEPs) have historically focused on specific organ systems or phenotypes; thus, the ClinGen Syndromic Disorders GCEP (SD-GCEP) was formed to address an unmet need.

Methods: The SD-GCEP applied ClinGen's framework to evaluate the clinical validity of genes associated with rare syndromic disorders. 111 Gene-Disease Relationships (GDRs) associated with 100 genes spanning the clinical spectrum of syndromic disorders were curated.

Oat polar lipids and sunflower lecithin similarly improve cardiometabolic risk markers and appetite controlling hormone responses after breakfast and a subsequent lunch. A randomized crossover study in healthy adults.

Introduction: The alarming global increase in lifestyle-related disorders such as obesity and type 2 diabetes mellitus (T2DM) has increased during the last several decades. Poor dietary choices significantly contribute to this increase and prevention measures are urgently needed. Dietary intake of bioactive compounds found in foods are linked to a decrease likelihood of these disorders.

Identification of Correlation Between Frailty and Lower Urinary Tract Symptoms in Elderly Male Using Korean-FRAIL Scale.

Purpose: The K-FRAIL scale is a Korean version of the aging questionnaire that allows screening and diagnosis of easily observable aging in the elderly through a simple self-answer questionnaire. The objective of this study was to examine the relation between fraility and clinical symptoms of the lower urinary tract in elderly men using the K-FRAIL scale.

Materials And Methods: A prospective study was conducted on 100 patients who underwent urological examination at our hospital from January 2021 to December 2021.

Patients' Perceptions of Their Therapist: Effects of Race, Culture, and Cultural Competency on the Working Alliance.

Objective: The purpose of this study was to investigate the extent to which patients feel racially and culturally similar to their therapist, patients' perceptions of their therapist's cultural competence, and how these factors relate to the working alliance in a naturalistic treatment setting.

Methods: Participants were 119 adult patients treated at a large outpatient clinic by clinicians with a range of professional backgrounds (e.g.

The relationship between depression, anxiety and lower urinary tract symptoms in men.

Purpose: Patients with lower urinary tract symptoms (LUTS) often experience comorbid depression and anxiety, yet the mechanisms underlying this association remain incompletely understood. This prospective study aimed to investigate the relationship between depression, anxiety, and LUTS in men.

Materials And Methods: A prospective study was conducted with 350 male patients who underwent urologic examinations at our institution from January 2021 to December 2021.

Correlation between urine cytology results on the day after overnight continuous saline irrigation following transurethral resection of bladder tumor and bladder tumor recurrence.

Purpose: To investigate the relationship between urine cytology results after overnight continuous saline irrigation (OCSI) following transurethral resection of bladder tumor (TURBT) and bladder tumor recurrence in non-muscle invasive bladder cancer (NMIBC).

Materials And Methods: A retrospective study was conducted on patients diagnosed with NMIBC between 2016 and 2020 after undergoing TURBT at our hospital. All patients received OCSI following TURBT and had urine cytology test at postoperative 1 day.

A new invertebrate NPY-like polypeptide, ZoaNPY, from the Zoanthus sociatus, as a novel ligand of human NPY Y2 receptor rescues vascular insufficiency via PLC/PKC and Src- FAK-dependent signaling pathways.

Our recent multi-omics studies have revealed rich sources of novel bioactive proteins and polypeptides from marine organisms including cnidarians. In the present study, we initially conducted a transcriptomic analysis to review the composition profile of polypeptides from Zoanthus sociatus. Then, a newly discovered NPY-like polypeptide-ZoaNPY was selected for further in silico structural, binding and virtually pharmacological studies.

Clinical outcome and safety of holmium laser prostate enucleation after transrectal prostate biopsies for benign prostatic hyperplasia.

Purpose: This study aimed to assess the clinical outcome and safety of holmium laser enucleation of the prostate (HoLEP) following transrectal ultrasound-guided prostate biopsy (TR biopsy) in the treatment of benign prostate hyperplasia.

Materials And Methods: We retrospectively analyzed data from 556 patients who underwent HoLEP between 2014 and 2021. The patients were categorized into six groups: Group 1-A (n=45) underwent HoLEP within four months post TR biopsy.

Cluster analysis and visualisation of electronic health records data to identify undiagnosed patients with rare genetic diseases.

Rare genetic diseases affect 5-8% of the population but are often undiagnosed or misdiagnosed. Electronic health records (EHR) contain large amounts of data, which provide opportunities for analysing and mining. Data mining, in the form of cluster analysis and visualisation, was performed on a database containing deidentified health records of 1.

Arthroscopic Release of the First Metatarsophalangeal Joint: The 3-Portal Approach.

Arthrofibrosis of the first metatarsophalangeal joint may cause significant limitation of sport and daily activities. Surgical release is indicated if conservative management fails. Open release may have a high recurrence rate of joint stiffness because the surgical trauma will induce fibrous tissue formation and the presence of lengthy surgical wounds may hinder early joint mobilization.

The epidemiology of male lower urinary tract symptoms associated with benign prostatic hyperplasia: Results of 20 years of Korean community care and surveys.

Purpose: To investigate the prevalence of lower urinary tract symptoms/benign prostatic hyperplasia in a Korean population.

Materials And Methods: The Korean Prostate & Voiding Health Association provided free prostate-related community health care and conducted surveys in all regions of Korea from 2001 to 2022 with the cooperation of local government public health centers. A total of 72,068 males older than 50 were surveyed and analyzed.

Exercise training modifies skeletal muscle clock gene expression but not 24-hour rhythmicity in substrate metabolism of men with insulin resistance.

Twenty-four hour rhythmicity in whole-body substrate metabolism, skeletal muscle clock gene expression and mitochondrial respiration is compromised upon insulin resistance. With exercise training known to ameliorate insulin resistance, our objective was to test if exercise training can reinforce diurnal variation in whole-body and skeletal muscle metabolism in men with insulin resistance. In a single-arm longitudinal design, 10 overweight and obese men with insulin resistance performed 12 weeks of high-intensity interval training recurrently in the afternoon (between 14.

A novel intronic variant in ROBO3 associated with horizontal gaze palsy with progressive scoliosis: case report and literature review.

Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare, autosomal recessive inherited disorder caused by mutations in ROBO3 gene. The clinical features of HGPPS include horizontal gaze palsy, progressive scoliosis, other oculomotor abnormalities such as strabismus and nystagmus. Whole-exome sequencing (WES) is used to diagnose rare Mendelian disorders, when routine standard tests have failed to make a formal pathological diagnosis.

Clinical effectiveness of mindfulness-based music therapy on improving emotional regulation in blind older women: A randomized controlled trial.

Background: This study aimed to investigate clinical effectiveness of a structured eight-week mindfulness-based music therapy (MBMT) program on improving mood regulation in older women with blindness. This investigation compared a MBMT group with a mindfulness intervention (MI) group and a control group.

Methods: Ninety-two older females with blindness from a residential setting in Hong Kong were recruited and randomly allocated to a MBMT ( = 31), MI ( = 30), or control ( = 31) group.

Proportion of paediatric admissions with any stage of noma at the Anka General Hospital, northwest Nigeria.

Introduction: Noma is a rapidly spreading infection of the oral cavity which mainly affects young children. Without early treatment, it can have a high mortality rate. Simple gingivitis is a warning sign for noma, and acute necrotizing gingivitis is the first stage of noma.

Application of mask images of contrast-enhanced MR angiography to detect carotid intraplaque hemorrhage in patients with moderate to severe symptomatic and asymptomatic carotid stenosis.

Purpose: Carotid intraplaque hemorrhage (IPH) on MRI predicts stroke. Magnetization-prepared rapid acquisition gradient (MP-RAGE) is widely used to detect IPH. CE-MRA is used routinely to assess stenosis.