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Pompe disease or glycogenosis type II is a rare disease caused by mutations in the GAA gene that leads to deficiency of the acid alpha-1,4-glucosidase enzyme. As a result of the enzymatic defect, a pr…

Pompe disease or glycogenosis type II is a rare disease caused by mutations in the GAA gene that leads to deficiency of the acid alpha-1,4-glucosidase enzyme. As a result of the enzymatic defect, a progressive accumulation of intralysosomal glycogen occurs in various tissues, causing smooth, cardiac and skeletal muscle involvement. When the age of onset of the disease is after the first year of life, it is called late-onset Pompe disease (LOPD). Weakness of the axial and proximal waist muscles and respiratory dysfunction are common manifestations. Enzyme replacement therapy (ERT) has been available for more than 15 years and is the standard treatment. This therapy changes the course of the disease, although the effectiveness of the treatment reduces over time. New enzyme therapies represent new treatment opportunities for patients with LOPD. Here we present updated recommendations from a group of experts in Pompe disease on the diagnosis, treatment and follow-up of LOPD patients, with the aim of providing a guide for the clinical management of the disease. Copyright © 2025 Sociedad Española de Neurología. Published by Elsevier España, S.L.U. All rights reserved.

What's Changed fix: Keep requested keys alive in the naive scheduler by @SimonHeybrock in https://github.com/scipp/sciline/pull/240 Full Changelog: https://github.com/scipp/sciline/compare/26.8.0...…

What's Changed fix: Keep requested keys alive in the naive scheduler by @SimonHeybrock in https://github.com/scipp/sciline/pull/240 Full Changelog: https://github.com/scipp/sciline/compare/26.8.0...26.9.0

To evaluate the effectiveness and tolerability of dolutegravir/lamivudine (DTG/3TC) at 96 weeks in virologically suppressed persons with HIV, both overall and across subgroups, within CoRIS, a large m…

To evaluate the effectiveness and tolerability of dolutegravir/lamivudine (DTG/3TC) at 96 weeks in virologically suppressed persons with HIV, both overall and across subgroups, within CoRIS, a large multicenter cohort in Spain, in 2018-2023 METHODS: We included treatment-experienced adults with HIV who were virologically suppressed (viral load <50 copies/mL) when switching to DTG/3TC. We calculated the proportion maintaining viral suppression (VS), change in CD4 cell counts, virological failure (VF; two consecutive viral load (VL) =50 copies/mL or one =1000 copies/mL), and discontinuations due to adverse events (AEs) up to 96 weeks post-switch. Outcomes were stratified by sex, age, region of origin, antiretroviral regimen at switch, and previous VF RESULTS: Among 2058 participants (22.5% women), 95.9% maintained VS, 2.2% experienced VF, and 2.2% discontinued due to AEs. In multivariable analysis, no significant differences in VS, VF or CD4 change were observed across most subgroups. Participants aged =50 years were more likely to maintain VS, had lower VF risk, and a smaller CD4 increase compared with <50 years. Prior VF was associated with lower likelihood of maintaining VS and higher VF risk. Switching from 2NRTIs + PI or 2NRTIs + INSTI increased risk of VF compared with NRTIs+NNRTI CONCLUSIONS: DTG/3TC showed high effectiveness and tolerability at 96 weeks, with consistent outcomes across most subgroups. Previous VF reduced the likelihood of sustained VS. © 2025 British HIV Association.

[No abstract available]

The success of living donor liver transplantation (LDLT) has bridged the growing gap between organ demand and availability in patients with liver failure or liver cancer. Safety of the living liver do…

The success of living donor liver transplantation (LDLT) has bridged the growing gap between organ demand and availability in patients with liver failure or liver cancer. Safety of the living liver donor (LLD) is paramount, and astute intraoperative management plays a critical role in ensuring optimal outcomes in them. Given that intraoperative surgical and anesthesia practices vary widely across centers, the International Liver Transplantation Society (ILTS) and the International Living Donor Liver Transplantation Group (iLDLT Group) convened a global consensus conference in Toronto in March 2025 to develop guidelines for intraoperative management of the LLD. This manuscript details the recommendations on intraoperative considerations for the safety of LLD developed by Working Group II of the Consensus Scientific Committee, using the Grading of Recommendations, Assessment, Development, and Evaluation (GRADE) system for assessment of recommendations, and the Danish model of consensus. Working Group II focused on intraoperative monitoring, fluid and ventilation strategies, surgical techniques for vascular and biliary division, surgeon and center specific experience, and intraoperative crises planning. These guidelines aim to support both established and emerging LDLT teams to ensure high-quality and safe intraoperative care for the LLD. Copyright © 2025 American Association for the Study of Liver Diseases.

BackgroundAlzheimer's disease (AD) is a leading cause of dementia. Following the discovery of the amyloid's antimicrobial properties, research has focused on infectious agents as potential contributor…

BackgroundAlzheimer's disease (AD) is a leading cause of dementia. Following the discovery of the amyloid's antimicrobial properties, research has focused on infectious agents as potential contributors. This study investigates the role of multi-pathogen infections in AD by analyzing serological and molecular microbiologic markers in serum and cerebrospinal fluid (CSF).MethodsA unicentric case-control study was conducted in AD patients (n=44) and healthy controls (n=35) in a Spanish reference cognitive disorders unit. Serum and CSF samples were analyzed using chemiluminescence immunoassay and ELISA for several pathogens. Molecular detection was performed through nucleic acid amplification. Multivariable logistic regression with bootstrap validation identified independent predictors of AD.ResultsSeropositivity for HCMV and Coxiella burnetii was significantly more frequent in AD patients, with C. burnetii linked to rapid progression. No microbial DNA was detected in CSF. Age (OR 1.55, 95% CI 1.17-2.03), HCMV (OR 20.02, 95% CI 2.64-183.38), and Chlamydia pneumoniae (OR 8.60, 95% CI 0.96-96.57) seropositivity were independent predictors of AD in the adjusted logit model, with an AUC of 0.79 after bootstrap validation. Wide confidence intervals indicate uncertainty in the exact strength of association. Triple-positive patients (HCMV, C. pneumoniae, C. burnetii) showed faster progression, poorer neuropsychological performance, and impaired CSF biomarkers, including lower A40/A42 ratios and higher neurofilament light levels.ConclusionsLatent infections with HCMV, C. pneumoniae, and C. burnetii may contribute to AD pathophysiology, possibly through systemic or immune-mediated mechanisms. Further studies are needed to replicate these findings and clarify the role of infectious burden in AD.

To compare incidence of forearm radial artery occlusion (RAO) and hemostasis characteristics between distal and conventional transradial approach (DRA and TRA, respectively). © 2021 Wiley Periodicals …

To compare incidence of forearm radial artery occlusion (RAO) and hemostasis characteristics between distal and conventional transradial approach (DRA and TRA, respectively). © 2021 Wiley Periodicals LLC.

This deposit serves as a long-term archive for the unprocessed raw data of the Maharashtra electoral roll used for the 2014 assembly elections (36 constituencies, downloaded November 2014), which fed …

This deposit serves as a long-term archive for the unprocessed raw data of the Maharashtra electoral roll used for the 2014 assembly elections (36 constituencies, downloaded November 2014), which fed the maharolls2014 work in my dataset on religion and politics in India. The roll for the 2014 general election is in the maharolls2014 records.

This deposit serves as a long-term archive for the unprocessed raw data of the Maharashtra electoral roll used for the 2014 assembly elections (36 constituencies, downloaded November 2014), which fed …

This deposit serves as a long-term archive for the unprocessed raw data of the Maharashtra electoral roll used for the 2014 assembly elections (36 constituencies, downloaded November 2014), which fed the maharolls2014 work in my dataset on religion and politics in India. The roll for the 2014 general election is in the maharolls2014 records.