Worth syndrome

Accumulation of the amyloid β (Aβ) peptide, derived from Aβ precursor protein (APP), is a trait of Down syndrome (DS), as is early development of dementia like Alzheimer's disease (AD). Treatments for AD in DS simply do not exist. New drug therapies for AD, e.g., Lecanemab, are monoclonal antibodies designed to clear amyloid plaques composed of Aβ. The increasingly real ability to target and dispose of Aβ favors the use of these drugs in individuals with DS for AD, perhaps as earlier intervention for cognitive impairment...

BACKGROUND: Benefits of Intermittent fasting (IF) on health-related outcomes have been found in a range of randomised controlled trials (RCTs). Our umbrella review aimed to systematically analyze and synthesize the available causal evidence on IF and its impact on specific health-related outcomes while evaluating its evidence quality. METHODS: We comprehensively searched the PubMed, Embase, Web of Science, and Cochrane databases (from inception up to 8 January 2024) to identify related systematic reviews and meta-analyses of RCTs investigating the association between IF and human health outcomes...

PURPOSE: To explore women's lived experiences of intimacy, sexuality and sexual functioning in the context of cauda equina syndrome (CES). METHODS: Ten women completed an in-depth semi-structured interview exploring the psychosocial impact of CES on their sexuality and data were analyzed using Interpretative Phenomenological Analysis (IPA). RESULTS: One superordinate theme was generated: "Sexuality forever altered, it's changed completely," reflecting the enduring impact of CES on women's sexuality...

BACKGROUND: Severe acute respiratory syndrome coronavirus 2 caused an unprecedented pandemic for more than 2 years, affecting the lifestyle health, and education systems at the global level. During this long pandemic period, online learning was considered the only secure learning alternative. Multiple studies have demonstrated positive or negative perceptions related to online teaching. AIM: Through this study, we identified the perceptions and different challenges that online learning brought to the education of the students of Alexander Xhuvani University, Elbasan, focusing on their achievements...

Introduction Premenstrual syndrome (PMS) is a regular clinical condition that affects most women during their reproductive years. Its related symptoms may be linked to a decrease in women's quality of life. Female nurses may be more susceptible to PMS due to the demanding nature of their job. The importance of nurses' jobs and how their quality of life will affect patients and themselves in parallel make female nurses a population that is worth investigating. Our objective is to estimate the level of PMS among Jordanian nurses and assess the potential impact of PMS on work-related quality of life among them...

BACKGROUND: Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) is a debilitating chronic disease of significant public health and clinical importance. It affects multiple systems in the body and has neuro-immunological characteristics. The disease is characterized by a prominent symptom called post-exertional malaise (PEM), as well as abnormalities in the immune-inflammatory pathways, mitochondrial dysfunctions and disturbances in neuroendocrine pathways. The purpose of this study was to evaluate the impact of ME/CFS on the mental health and secondary psychosocial manifestations of patients, as well as their coping mechanisms...

BACKGROUND: NGAL serum concentration have predictive value for cardiovascular events and mortality in patients with acute coronary syndrome (ACS). OBJECTIVES: Assessed the all-cause mortarlity prognosis value of serum neutrophil gelatinase-associated lipocalin (NGAL), combination with N-terminal pro B-type natriuretic peptide (NT-proBNP), and hsTnT, and GRACE score in patients with ACS. MATERIALS AND METHODS: We conducted a cross-sectional analysis study used in this study in 58 patients with ACS...

Temporal lobe epilepsy (TLE) is the most common form of epileptic syndrome. It has been established that due to its complex pathogenesis, a considerable proportion of TLE patients often progress to drug-resistant epilepsy. Ferroptosis has emerged as an important neuronal death mechanism in TLE, which is primarily influenced by lipid accumulation and oxidative stress. In previous studies of ferroptosis, more attention has been focused on the impact of changes in the levels of proteins related to the redox equilibrium and signaling pathways on epileptic seizures...

PURPOSE: Dexterity and bimanual coordination had not previously been compared between people with long COVID and people with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS). Therefore, this study determined dexterity and bimanual coordination in people with long COVID (∼16 month illness duration; n=21) and ME/CFS (∼16 year illness duration; n=20), versus age-matched healthy controls (n=20). METHODS: Dexterity, and bimanual coordination was determined using the Purdue pegboard test...

Functional dyspepsia is a common functional disorder of the gastrointestinal tract that is responsible for many primary care visits. No organic changes have been found to explain its symptoms. We hypothesize that modern lifestyles and environmental factors, especially psychological stress, play a crucial role in the high prevalence of functional dyspepsia and metabolic syndrome. While gastrointestinal tract diseases are rarely linked to metabolic disorders, chronic stress, obesity-related metabolic syndrome, chronic inflammation, intestinal dysbiosis, and functional dyspepsia have significant pathophysiological associations...

forming a bony opening through which the vertebral artery (VA) enters the vertebral canal. Block vertebra is a synostosis of at least two vertebral bodies that did not separate during the embryological development. It is worth distinguishing it from the Klippel-Feil syndrome, as the latter oftentimes involves other abnormalities (namely skeletal) and is typically diagnosed in childhood. Both variants could potentially lead to an impairment of the blood flow through the VA. Case report: The following case report presents a finding of two anomalies of the cervical spine, found in a 38 y...

BACKGROUND: Diabetes is a global health challenge with escalating prevalence rates. Cardiovascular complications represent the leading cause of mortality among individuals with diabetes. Notably, dyslipidemia stands as a prominent risk factor for cardiovascular disease in Type 2 diabetes mellitus (T2DM) patients. Timely detection and management of dyslipidemia in these patients hold the potential to deter its progression and substantially reduce the risk of cardiovascular-related morbidity and mortality...

Middle lobe syndrome is a rare but important clinical entity worth investigating in local obstructive or inflammatory cause. One of its rare etiologies is broncholithiasis. We report the observation of a young female patient who presented with recurrent hemoptysis. Chest CT scan showed atelectasis of the middle lobe and suggested the diagnosis of broncholithiasis by objectifying, within the collapsed lobe, a calcification located in the bronchial lumen. Bronchial fibroscopy was of little help. Recurrent hemoptysis and doubt about pulmonary neoplasia led to a diagnostic and therapeutic lobectomy...

BACKGROUND: Diabetes is a metabolic disorder posing a global threat to health. Many scholars are dedicated to developing non-pharmacological therapies, and mindfulness intervention is among the potentially effective approaches. Due to the rapid increase in relevant research in recent years, along with the diverse focus and interventions used in studies, it has become challenging for practitioners to quickly comprehend the key features of this field and the directions worth paying attention to...

Mangoes (Mangifera indica) are widely prized for their abundant nutritional content and variety of beneficial bioactive compounds and are popularly utilized in various foods, pharmaceuticals, and cosmetics industries. However, it is important to note that certain proteins present in mango can trigger various allergic reactions, ranging from mild oral allergy syndrome to severe life-threatening anaphylaxis. The immunoglobulin E-mediated hypersensitivity of mango is mainly associated with three major allergenic proteins: Man i 1 (class IV chitinase), Man i 2 (pathogenesis-related-10 protein; Bet v 1-related protein), and Man i 4 (profilin)...

Transactional sex increases sub-Saharan African women's risk of HIV acquisition. We quantitatively explored the pathways contributing towards women's future engagement in transactional sex with casual partners and khwapheni (secret concurrent sex partners). We conducted secondary data analysis from a cluster randomised controlled trial in urban informal settlements in eThekwini Municipality., South Africa. Data were collected at enrolment (t0) and 24 months' later (t2) using self-completed questionnaires. Structural equation modelling (SEM) assessed pathways leading to transactional sex over two years...

INTRODUCTION: Current implementation efforts have failed to achieve equitable HIV pre-exposure prophylaxis (PrEP) provision for transgender and gender-diverse (trans) populations. We conducted a choice-based conjoint analysis to measure preferences for key attributes of hypothetical PrEP delivery programmes among a diverse online sample predominantly comprised of transmasculine and nonbinary individuals in the United States. METHODS: Between April 2022 and June 2022, a national online survey with an embedded conjoint analysis experiment was conducted among 304 trans individuals aged ≥18 years in the United States to assess five PrEP programme attributes: out-of-pocket cost; dispensing venue; frequency of visits for PrEP-related care; travel time to PrEP provider; and ability to bundle PrEP-related care with gender-affirming hormone therapy services...

BACKGROUND: The contribution of gut microbiota to the pathogenesis of polycystic ovary syndrome (PCOS) is controversial. The causal relationship to this question is worth an in-depth comprehensive of known single nucleotide polymorphisms associated with gut microbiota. METHODS: We conducted bidirectional Mendelian randomization (MR) utilizing instrumental variables associated with gut microbiota (N = 18,340) from MiBioGen GWAS to assess their impact on PCOS risk in the FinnGen GWAS (27,943 PCOS cases and 162,936 controls)...

CONTEXT: Familial tall stature (FTS) is considered to be a benign variant of growth with a presumed polygenic etiology. However, monogenic disorders with possible associated pathological features could also be hidden under the FTS phenotype. OBJECTIVES: To elucidate the genetic etiology in families with FTS and to describe their phenotype in detail. DESIGN, SETTINGS AND PATIENTS: Children with FTS (height in both the child and his/her taller parent >2 SD) referred to the Endocrinology center of Motol University Hospital were enrolled to the study...

BACKGROUND: The American Heart Association (AHA), in conjunction with the National Institutes of Health, annually reports the most up-to-date statistics related to heart disease, stroke, and cardiovascular risk factors, including core health behaviors (smoking, physical activity, nutrition, sleep, and obesity) and health factors (cholesterol, blood pressure, glucose control, and metabolic syndrome) that contribute to cardiovascular health. The AHA Heart Disease and Stroke Statistical Update presents the latest data on a range of major clinical heart and circulatory disease conditions (including stroke, brain health, complications of pregnancy, kidney disease, congenital heart disease, rhythm disorders, sudden cardiac arrest, subclinical atherosclerosis, coronary heart disease, cardiomyopathy, heart failure, valvular disease, venous thromboembolism, and peripheral artery disease) and the associated outcomes (including quality of care, procedures, and economic costs)...