Risk Factors for Falls in Community-Dwelling Older Adults During the Novel Coronavirus Pandemic in Japan: A Prospective Cohort Study.

This study aimed to test the hypothesis that knowledge derived from indirect assessments can be used to identify fall risk factors during a period of social distancing. A baseline survey of 1953 community-dwelling older adults was conducted in May 2020, with a follow-up survey performed in May 2023 to assess the situation 3 years later. In total, 339 individuals were followed from baseline to follow-up.

Comparison of muscle activities during bench press at different angles in beginners.

[Purpose] The bench press can strengthen targeted muscles, such as the pectoralis major, deltoid, and triceps brachii. This study examined differences in muscle activities during the bench press at different angles in beginners to collect basic data and evaluate the clinical effectiveness of the bench press. [Participants and Methods] The participants were 15 male students with <1 year of training experience.

Phenotypic quantification of Nphs1-deficient mice.

Background: Steroid-resistant nephrotic syndrome (SRNS) is the second most frequent cause of chronic kidney disease in children and young adults. The most severe form of steroid-resistant nephrotic syndrome is congenital nephrotic syndrome Finnish type (CNSF), caused by biallelic loss-of-function variants in NPHS1, encoding nephrin. Since each of the 68 monogenic causes of steroid-resistant nephrotic syndrome represents a rare cause of the disease, tailoring therapeutic interventions to multiple molecular targets remains challenging, suggesting gene replacement therapy (GRT) as a viable alternative.

Quantifiable and reproducible phenotypic assessment of a constitutive knockout mouse model for congenital nephrotic syndrome of the Finnish type.

Steroid-resistant nephrotic syndrome (SRNS) is the second most frequent cause of childhood chronic kidney disease. Congenital nephrotic syndrome of the Finnish type (CNF) (MIM# 256300) is caused by biallelic variants in the gene NPHS1, encoding nephrin, an integral component of the kidney filtration barrier. No causal treatments exist, and children inevitably require kidney replacement therapy.

Changes in frailty and lifestyle among community-dwelling older adults: A two-point cross-sectional study during and after the COVID-19 pandemic in Japan.

We aimed to verify the characteristics of lifestyles and frailty among older adults during and after the COVID-19 pandemic. This two-point cross-sectional study conducted a baseline survey (BL) in 2020 and a follow-up survey (FU) in 2023 with community-dwelling individuals aged ≥65 years in Japan. The 700 and 572 participants in the BL and FU were analyzed.

Recessive variants in the intergenic locus cause monogenic kidney disease responsive to anti-proteinuric treatment.

In genetic disease, an accurate expression landscape of disease genes and faithful animal models will enable precise genetic diagnoses and therapeutic discoveries, respectively. We previously discovered that variants in , encoding nitric oxide synthase 1 (NOS1) adaptor protein, cause monogenic nephrotic syndrome (NS). Here, we determined that an intergenic splice product of N / and neighboring , which precludes NOS1 binding, is the predominant isoform in mammalian kidney transcriptional and proteomic data.

Quantitative phenotyping of knockout mice as a prerequisite for gene replacement studies.

Steroid-resistant nephrotic syndrome (SRNS) is the second most frequent cause of chronic kidney disease before the age of 25 yr. Nephrin, encoded by localizes to the slit diaphragm of glomerular podocytes and is the predominant structural component of the glomerular filtration barrier. Biallelic variants in can cause congenital nephrotic syndrome of the Finnish type, for which, to date, no causative therapy is available.

Fall Risk Prediction for Community-Dwelling Older Adults: Analysis of Assessment Scale and Evaluation Items without Actual Measurement.

The frequency of falls increases with age. In Japan, the population is aging rapidly, and fall prevention measures are an urgent issue. However, assessing fall risk during the coronavirus disease pandemic was complicated by the social distancing measures implemented to prevent the disease, while traditional assessments that involve actual measurements are complicated.

Advantages of whole-exome sequencing over immunomapping in 67 Brazilian patients with epidermolysis bullosa.

Background: Epidermolysis bullosa (EB) is characterized by skin fragility and blistering. In Brazil, the diagnosis is usually obtained through immunomapping, which involves a skin biopsy. Most recently, whole exome sequencing (WES) has become an important tool for the diagnosis of the subtypes of EB, providing information on prognosis as well as allowing appropriate genetic counseling for the families.

Whole-exome sequencing reveals causative genetic variants for several overgrowth syndromes in molecularly negative Beckwith-Wiedemann spectrum.

Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder caused by (epi)genetic alterations at 11p15. Because approximately 20% of patients test negative via molecular testing of peripheral blood leukocytes, the concept of Beckwith-Wiedemann spectrum (BWSp) was established to encompass a broader cohort with diverse and overlapping phenotypes. The prevalence of other overgrowth syndromes concealed within molecularly negative BWSp remains unexplored.

[Categorization of the health status and its transition of community-dwelling older adults during the coronavirus disease (COVID-19) epidemic].

Aim: The purpose of this study was to categorize and clarify transitions in the health status of older adults living in the community during the coronavirus disease (coronavirus disease 2019: COVID-19) pandemic.

Methods: The participants were older adults (≥65 years of age) who lived in Takasaki City, Gunma Prefecture. The survey items included basic information and subjective health perception (questionnaire for medical checkup of old-old).

Factors associated with falls during voluntary self-isolation among community-dwelling older people: a longitudinal study.

[Purpose] We aimed to explore the factors that predict falls in community-dwelling older people over 6 months during their voluntary self-isolation for the coronavirus disease (SARS-CoV-2). [Participants and Methods] In this longitudinal study, we surveyed older people aged ≥65 years living in Takasaki City, Gunma Prefecture, using a questionnaire. We investigated the relationship between the frailty screening index and fall rate.

An integrated genetic analysis of epileptogenic brain malformed lesions.

Focal cortical dysplasia is the most common malformation during cortical development, sometimes excised by epilepsy surgery and often caused by somatic variants of the mTOR pathway genes. In this study, we performed a genetic analysis of epileptogenic brain malformed lesions from 64 patients with focal cortical dysplasia, hemimegalencephy, brain tumors, or hippocampal sclerosis. Targeted sequencing, whole-exome sequencing, and single nucleotide polymorphism microarray detected four germline and 35 somatic variants, comprising three copy number variants and 36 single nucleotide variants and indels in 37 patients.

Possible Duration of WISH-type Hip Brace Use: Prognostic Value of Timed Up and Go Test.

Objectives: The WISH-type S-form hip brace (WISH brace) has significantly improved hip function and functional mobility in patients with hip osteoarthritis (OA). However, most patients later undergo surgery. The main purpose of this study was to evaluate how long the orthosis can be effectively used by patients with hip OA, and to reveal the associated prognostic factors.

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.

Purpose: Pathogenic variants in genes involved in the epigenetic machinery are an emerging cause of neurodevelopment disorders (NDDs). Lysine-demethylase 2B (KDM2B) encodes an epigenetic regulator and mouse models suggest an important role during development. We set out to determine whether KDM2B variants are associated with NDD.

Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.

Purpose: Brain monoamine vesicular transport disease is an infantile-onset movement disorder that mimics cerebral palsy. In 2013, the homozygous SLC18A2 variant, p.Pro387Leu, was first reported as a cause of this rare disorder, and dopamine agonists were efficient for treating affected individuals from a single large family.

Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy.

Purpose: Cerebellar hypoplasia and atrophy (CBHA) in children is an extremely heterogeneous group of disorders, but few comprehensive genetic studies have been reported. Comprehensive genetic analysis of CBHA patients may help differentiating atrophy and hypoplasia and potentially improve their prognostic aspects.

Methods: Patients with CBHA in 176 families were genetically examined using exome sequencing.

Relationship between consistent subjective cognitive decline and occurrence of falls six months later.

Purpose: To examine the association between consistent subjective cognitive decline and fall occurrence six months later.

Method: A cohort study was conducted at two time points in community-dwelling older adults. The first survey was conducted from May to July 2020 and the second from November 2020 to January 2021.

Epidemiological and clinical characteristics of COVID-19 in Eastern Algeria.

Introduction: COVID-19 is a highly transmissible and pathogenic viral infection caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Algeria was also affected by the COVID-19, it was considered the third most affected country in Africa.

Aim: The main aim of the study was to identify risk factors and the impact of risk factors on the incidence SARS-CoV-2 infection and the clinical course of the COVID-19, through a behavioral survey on a representative sample of the people who have been previously diagnosed with COVID-19.