The Homozygous c.612C>G Mutation in C1QBP is Associated with Late-Onset Progressive External Ophthalmoplegia
Abstract
653 3436
The Homozygous c.612C>G Mutation in C1QBP is Associated with Late-Onset Progressive External Ophthalmoplegiaby
Abstract
Biallelic pathogenic variants in C1QBP are an infrequent, yet increasingly recognised, cause of progressive external ophthalmoplegia (PEO). Although most published cases include cardiomyopathy, isolated late‑onset PEO without cardiac disease remains exceptional. To characterise, for the first time, a Moldavian‑Ukrainian pedigree in which homozygous c.612C>G (p.Phe204Leu) in C1QBP causes autosomal‑recessive PEO in the absence of cardiomyopathy, thereby expanding the phenotypic spectrum of C1QBP‑related disease. W [...] 653 3436 |
Therapeutic Carbohydrate Reduction for Lipedema: Guidelines for a Patient-Centered, Holistic ApproachAbstract
Lipedema is a chronic, often misdiagnosed disease characterized by painful, disproportionate fat accumulation in the extremities. Commonly mistaken for obesity or lymphedema, lipedema primarily affects women and has long been thought to be resistant to dietary intervention, a belief originating from its initial description by Allen and Hines at the Mayo Clinic in 1940. However, emerging research challenges this notion, revealing that individuals with lipedema often respond positively to therapeutic carbohydrate (CH [...] 3521 29477 |
Psychometric Properties of the Persian Version of the Interpersonal Mindfulness Scale (IMS) among Iranian Adolescentsby
Abstract
Interpersonal mindfulness, involving present-moment awareness and acceptance during social interactions, is crucial for emotional regulation and adaptive interpersonal functioning. This study examined the psychometric properties of the Persian version of the Interpersonal Mindfulness Scale (IMS), a 27-item instrument with four subscales: presence, awareness of self and others, nonjudgmental acceptance, and nonreactivity. The cross-sectional sample included 15- to 17-year-old Iranian adolescents (2023–2024), r [...] 923 5477 |
Neural Network of Alpha Rhythm rs-EEG Activity for the Assessment of Consciousness in Psychopathologyby
Abstract
Consciousness is an integrative process that combines several executive functions, as well as the analytical and synthetic activity of the brain. In some psychopathological conditions, in particular, in schizophrenia, low-information "borderline" disorders of the executive functions and consciousness are often formed at the onset. The present study was aimed at assessing the integration of the bran alpha regulatory system and the modulation of consciousness based on the data of recording the alpha rhythm of resting [...] 787 4110 |
Engaging with an Industrial Pandemic: Drivers of and Responses to the Expansion of Ultra-Processed Foods in East and Southern AfricaAbstract
Intensified marketing and expanding consumption of ultra-processed foods (UPFs) that contain high sugar, salt, trans-fats and other additives and sugar sweetened beverages in Sub-Saharan Africa (SSA) are associated with rising obesogenic environments and non-communicable diseases, termed by some an ‘industrial pandemic’ due to its commercial drivers and cross border nature. This review paper addresses the question of how far SSA, positioned at an early point of a rising wave, is controlling this growing health chal [...] 1248 5051 |
An Interview with Prof. Rosita GabbianelliAbstract
An Interview with Prof. Rosita Gabbianelli 491 2313 |
Duration of Hospitalization is Associated with the Gut Microbiome in Patients Undergoing Hematopoietic Stem Cell Transplantation: Early Results from a Randomized Trial of Home Versus Hospital Transplantationby
Abstract
Home-based hematopoietic stem cell transplantation (HCT) is an innovative care model with growing interest, but its impact on the gut microbiome remains unexplored in a randomized setting. We present interim results from the first randomized controlled trials (RCT) evaluating the effect of HCT location—home versus hospital—on gut microbial diversity and antimicrobial resistance (AMR) gene carriage. We hypothesize that patients randomized to undergo home HCT would have higher gut taxonomic diversity and lower AMR ge [...] 1838 4938 |
Fairness and Reasonableness Tariff Indicator (FRTI) to Meter and Compare Rate Policy in the Electricity Regimes. The Case of Argentina in 2022Abstract
The tariff policy for energy services is a fundamental issue for today's societies, especially for end users, including residential, commercial, and industrial. The main objective of this paper is to propose a statistical method to calculate, compare, and evaluate policies of this nature. To this end, firstly, it is intended to rethink an old concept on this type of policy, the principle of fairness and reasonableness, through the linkage with the perspective of human rights, specifically with the right to energy, [...] 932 5251 |
Physiological Impact of Milk on Multiple Health Outcomes in HumanAbstract
Milk is best known as a nutrient-rich fluid produced by the mammary glands of mammals, designed primarily to feed young. In the human diet, cow milk is most prevalent, but milk of other mammals and plant milk are common too. This study aims to investigate milk's nutritional value in various age groups and review opposing evidence of its effect on cardiovascular diseases in adults. It is a literature-based strategy to synthesize information from observational and meta-analytic studies. The milk content—macronutrient [...] 1985 10065 |
A Review on the Ethnomedicinal Plants Used in Zimbabwe for the Treatment and Management of Skin Conditions: Perspectives on Pharmacological and Toxicological Evaluationby
Abstract
Medicinal plants remain central to healthcare in Africa, where up to 80% of the population relies on traditional remedies to manage a range of health conditions, including skin ailments. In Zimbabwe, the country's rich biodiversity and favourable agroecological zones support a diverse range of ethnomedicinal plants. However, much of the knowledge surrounding these plants remains dispersed and scientifically under-evaluated. This review consolidates evidence from ethnobotanical surveys, peer-reviewed research, and g [...] 1712 12453 |
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