Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders.

Purpose: We sought to evaluate outcomes for clinical management after a genetic diagnosis from the Deciphering Developmental Disorders study.

Methods: Individuals in the Deciphering Developmental Disorders study who had a pathogenic/likely pathogenic genotype in the DECIPHER database were selected for inclusion ( = 5010). Clinical notes from regional clinical genetics services notes were reviewed to assess predefined clinical outcomes relating to interventions, prenatal choices, and information provision.

Ethnicity and breast cancer incidence in over 329,500 women in England in 2011-2019.

Introduction: Previous studies have reported an overall lower breast cancer incidence in women from Asian and Black backgrounds compared with white women. Age standardised and age specific incidence rates in the largest specific ethnicities within Asian and Black groups are not reported.

Materials And Methods: Data on population size and the age distribution of women in five ethnic groups of interest (white British, Black African, Black Caribbean, Indian and Pakistani) were extracted from the Office for National Statistics 2001, 2011 and 2021 census data for England.

Unilateral Giant Myelolipoma of the Adrenal Gland: A Case Report.

Myelolipoma of the adrenal gland is a rare, benign, non-functioning tumor characterized by the presence of adipose tissue and bone marrow elements. We present the case of a 48-year-old woman with intermittent left flank pain and an incidental finding of an adrenal tumor on computed tomography. The patient underwent laparoscopic tumor resection due to the large size of the tumor.

Neuromodulatory Treatment for Dizziness and Chronic Neurological Dysfunction in an Elderly Patient Using Radio Electric Asymmetric Conveyer (REAC) Neuro Psycho Physical Optimization (NPPO) Gamma Brain Wave Optimization (BWO-G): A Case Report.

An 88-year-old woman presented with a longstanding history of dizziness, tremors, and progressive mental and physical decline, significantly impairing her mobility and autonomy. Recently discharged from an ICU, the patient required extensive support for daily activities. Diagnostic evaluations, including EEG and analysis, revealed irregular frequency peaks and altered cortical activity, particularly in the frontal and prefrontal regions.

Plasma exchange alone versus combination with intravenous immunoglobulin/methylprednisolone pulse therapy in severe systemic rheumatic diseases: a retrospective study.

Background: For severe systemic rheumatic diseases (SRDs), therapeutic plasma exchange (TPE) may be applied as a rescue therapy; it usually combined with intravenous immunoglobulin (IVIG) or intravenous methylprednisolone pulse (IVMP) in severe SRDs. However, the necessity of this combination treatment strategy in SRDs remains uncertain.

Objective: This retrospective study aimed to evaluate the effectiveness of TPE alone versus TPE combined with IVIG/IVMP in treating severe SRDs.

Neurovisual Training With Acoustic Feedback: An Innovative Approach for Nystagmus Rehabilitation.

Nystagmus has various clinical manifestations, including downbeat, upbeat, and torsional types, each associated with distinct neurologic features. Current rehabilitative interventions focusing on fixation training and optical correction often fail to achieve complete resolution. When nystagmus coexists with fragile X-associated tremor/ataxia syndrome (FXTAS), functional impairments worsen, particularly affecting balance.

Cognitive Training Using Virtual Reality: An Assessment of Usability and Adverse Effects.

Objective: To evaluate the usability and adverse effects associated with virtual reality (VR) cognitive training and identify factors influencing them.

Design: Survey-based observational study.

Setting: Department of Rehabilitation Medicine in the hospital.

Korean Practice Guidelines for Gastric Cancer 2024: An Evidence-based, Multidisciplinary Approach (Update of 2022 Guideline).

Gastric cancer is one of the most common cancers in both Korea and worldwide. Since 2004, the Korean Practice Guidelines for Gastric Cancer have been regularly updated, with the 4th edition published in 2022. The 4th edition was the result of a collaborative work by an interdisciplinary team, including experts in gastric surgery, gastroenterology, endoscopy, medical oncology, abdominal radiology, pathology, nuclear medicine, radiation oncology, and guideline development methodology.

Related factors of postoperative half-year care utilization for health status and recovery in older adults with hip fracture: A retrospective study of Osaka National Health Insurance Data.

Aim: The aim of this study was to investigate the relationship between preoperative patient factors and postoperative half-year health care utilization reflecting recovery, common complications, comorbidities, and significant health concerns, identifying strong risk and protective factors.

Methods: This retrospective cohort study utilized linear, quantile, and ordinal regressions to analyze Osaka National Health Insurance data from 26 606 elderly patients who underwent hip fracture surgery between 2012 and 2018.

Results: The key factors associated with multiple postoperative care utilizations (P < 0.

Beyond COVID-19: Reported clinical practices in maternity care in Victoria during the COVID-19 pandemic and implications for the future - A statewide review.

Background: In Australia, during the COVID-19 pandemic many routine pregnancy visits were replaced by telehealth, along with changes to routine screening and visitor policies. Many providers plan to continue these changes.

Aims: Describe changes to maternity care provision across the state of Victoria during the COVID-19 pandemic.

Recurrent peripheral intravenous catheterization in neonates: A case series.

Neonatal peripheral intravenous catheters (PIVCs) can be difficult to insert, often requiring multiple attempts, with each attempt causing pain and delaying treatment. The aim of this study was describe the clinical characteristics of neonates requiring multiple PIVCs during hospitalization. A secondary case series of neonates requiring three or more PIVCs during their admission were identified from a cohort admitted to an Australian Neonatal Unit between October 2020 and February 2021.

Robotic Laparoscopy and Endoscopy Cooperative Surgery for Primary Appendiceal Mucinous Carcinoma Masquerading as Bladder Cancer: A Case Report.

Bladder invasion by appendiceal cancer resulting in a vesico-appendiceal fistula is an uncommon occurrence. Both radical tumor removal and functional preservation of the bladder are desirable in the surgical treatment of this disease, and there are few reports on detailed surgical methods. Here, we describe a case of primary appendiceal mucinous carcinoma with bladder invasion treated with robotic laparoscopy and endoscopy cooperative surgery (RECS).

Association of Cardiovascular Disease Risk Factors With Estimated Dietary Salt Consumption in Bangladeshi Adults: A Nationally Representative Cross-Sectional Study.

This population-based, nationally representative cross-sectional study assessed the daily salt consumption status and its associated cardiovascular disease (CVD) risk factors using weighted data from the STEPwise approach to noncommunicable disease risk factor surveillance conducted in 2018 in Bangladesh. It included a non-institutionalized adults' population of 6189 men and women aged 18-69 years. Their daily salt consumption was estimated using the spot urine sodium concentration following the Tanaka equation and reported according to the standard nomenclature proposed by the World Hypertension League and partner organizations involved in dietary salt reduction.

Occurrence of sleep disorders and the value of body mass index of seniors and the quality of their aging.

Aim: The aim of the study was to assess the occurrence of sleep disorders and the value of body mass index in seniors, taking into account their quality of aging and participation in classes at Universities of the Third Age (UTAs).

Methods: The study involved 631 (100%) seniors from the Silesian Voivodeship, aged 60 to 96 years (𝑥̅ = 70.28 ± 6.

Unifying biology of neurodegeneration in lysosomal storage diseases.

There are currently at least 70 characterised lysosomal storage diseases (LSD) resultant from inherited single-gene defects. Of these, at least 30 present with central nervous system (CNS) neurodegeneration and overlapping aetiology. Substrate accumulation and dysfunctional neuronal lysosomes are common denominator, but how variants in 30 different genes converge on this central cellular phenotype is unclear.

Second-Trimester Inflammatory Markers in Predicting Fetal Growth Restriction: A Retrospective Analysis.

Problem: Fetal growth restriction (FGR) is a critical pregnancy complication linked to increased perinatal morbidity and mortality. Inflammation plays a key role in FGR's pathophysiology, and systemic inflammation markers may serve as predictors. This study evaluates the role of various inflammation indices; systemic immune-inflammation index (SII), systemic inflammatory response index (SIRI), pan-immune-inflammation value (PIV), neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), monocyte-to-lymphocyte ratio (MLR), lymphocyte-to-platelet ratio (LMR), monocyte-to-platelet ratio (MPR), aggregate systemic inflammation index (AISI), systemic coagulation inflammation index (SCII), and immature granulocyte percentage (IG%) in predicting FGR.

Contrast-Enhanced Ultrasound Diagnosis of Uterine Myometrial Ischemia Following Myometrial Repair Sutures for Postpartum Hemorrhage Caused by Placenta Accreta.

We report the case of a 28-year-old female patient (gravida 2, para 1) who underwent a cesarean section after 33 weeks of pregnancy due to severe preeclampsia. The placenta was deeply embedded in the myometrium. Localized myometrial ischemia occurred following repair and suturing of the myometrium at the placental attachment site.

Labia Majora Approach to Aesthetic and Functional Complaints. A Standardized Topographic Labia Majora Classification.

Functional and aesthetic aberrations of labia majora are poorly described in scientific literature, and there is a lack of standardization and algorithms for treatment. The labia majora differs from the labia minora in that it has transitional epithelium, fascia, erectile tissue, and adipose components connected to crural, pelvic, and perineal structures. Non-surgical treatments, such as radiofrequency and light-based therapy, must match the symptoms and target these unique structures to have an effect.

Characteristics and Clinical Outcomes of Women with Polycystic Ovary Syndrome After Bariatric Surgery.

Background: Polycystic ovary syndrome (PCOS) commonly co-occurs with obesity, medical comorbidities, and psychiatric symptoms. Bariatric surgery is an effective treatment for co-occurring obesity and PCOS. While the incidence of PCOS declines substantially after bariatric surgery, the condition is still present for a subset of women.

Exploring the Potential Use of Probiotics, Prebiotics, Synbiotics, and Postbiotics as Adjuvants for Modulating the Vaginal Microbiome: a Bibliometric Review.

Women's health is related to several factors that include physical, mental, and reproductive health. Additionally, the vaginal microbiota modulation performs a fundamental role in the regulation of physiological homeostasis and dysbiosis, which provides us a potential overview of the use of different biotic agents and their implications for female health. The objective of this work was propitiated insights and conception about the influence of probiotics, prebiotics, synbiotics, and postbiotics as adjuvants for prevention/treatment on the main infections that can affect women's health.

Comparison of patient-reported symptoms with multi-item patient-reported outcome measures of fatigue, anxiety, and depression in the clinical care of women undergoing chemotherapy for early breast cancer.

Background: As patient-reported symptoms are increasingly incorporated into routine clinical practice and captured in electronic medical records these data can be used to conduct health-related quality of life research studies. This study compares symptom reports from the Patient-Reported Outcomes version of the Common Terminology Criteria for Adverse Events (PRO-CTCAE) and its precursor patient reported symptom monitoring (PRSM) (hereafter PRSM/PRO-CTCAE) with multi-item patient-reported outcome (PRO) scales for fatigue (Functional Assessment of Chronic Illness Therapy/FACIT-Fatigue) and depression and anxiety (Mental Health Index/MHI).

Methods: This is a secondary analysis of data collected from women with early breast cancer (Stage I-III) scheduled for chemotherapy who completed PRSM/PRO-CTCAE, FACIT-Fatigue, and MHI scales pre- and post-chemotherapy.

Dietary deacetylated chitin nanoparticles confer protection against diazinon toxicity in male African catfish: evaluation of immune-biochemical, antioxidant, and reproductive profiles.

Currently, deacetylated chitin (chitosan) nanoparticles (CNPs) are successfully utilized in aquaculture practices. This trial demonstrates the efficacy of CNPs in combating diazinon (DZN) toxicity in African catfish, Clarias gariepinus, via monitoring hepato-renal function, serum immune trait, hormonal function, and hepato-renal antioxidant activity. Four groups were allocated as follows: a control group, a CNPs group (0.

Skeletal muscle-specific Bambi deletion induces hypertrophy and oxidative switching coupling with adipocyte thermogenesis against metabolic disorders.

Skeletal muscle plays a significant role in both local and systemic energy metabolism. The current investigation aims to explore the role of the Bambi gene in skeletal muscle, focusing on its implications for muscle hypertrophy and systemic metabolism. We hypothesize that skeletal muscle-specific deletion of Bambi induces muscle hypertrophy, improves metabolic performance, and activates thermogenic adipocytes via the reprogramming of progenitor of iWAT, offering potential therapeutic strategies for metabolic syndromes.