We used generalized estimating equations to quantify the impact of recent vaccination or intercurrent infections on immune and inflammatory biomarkers among 144 human immunodeficiency virus (HIV)-infected adults with HIV RNA < 50 copies/mL on antiretroviral therapy. These events were associated with a 2.244 µg/mL increase in high sensitivity C-reactive protein and should be routinely assessed in future studies.
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http://dx.doi.org/10.1093/ofid/ofv036 | DOI Listing |
Neurol Sci
December 2024
Neurophysiopathology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Introduction: Biallelic variants in QARS1, a house-keeping gene involved in protein synthesis, cause a rare encephalopathy classically characterized by severe developmental delay, drug-resistant neonatal-onset epilepsy, microcephaly, and brain atrophy. We aim to raise awareness on mild QARS1-related phenotypes describing a 6-year-old patient.
Case Description: Epilepsy onset occurred at 3.
Case Rep Pediatr
December 2024
Paediatric Cardiac Anaesthetic Department, Bristol Royal Hospital for Children, Upper Maudlin Street, Bristol BS2 8BJ, UK.
TANGO2 deficiency disorder, a rare autosomal recessive genetic disorder characterised by biallelic loss-of-function variants in the TANGO2 gene, was first described in 2016. This disorder involves the transport and Golgi organisation homologue, impacting Golgi membrane redistribution into the endoplasmic reticulum. Clinically, affected individuals exhibit a multiorgan phenotype, with prominent neurological manifestations such as developmental delay and regression.
View Article and Find Full Text PDFKlin Padiatr
December 2024
Pädiatrische Pneumologie, Klinik für Kinderheilkunde III, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.
Duchenne muscular dystrophy is the most common inherited neuromuscular disease in children. In addition to the progressive loss of motor skills and cardiac involvement, respiratory muscle weakness leads to a restrictive lung disease and cough insufficiency. Specific respiratory interventions have significantly improved survival and quality of life of the affected boys.
View Article and Find Full Text PDFBrain
November 2024
Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, Perth, WA 6009, Australia.
BMC Med Res Methodol
October 2024
Department of Medical Statistics, London School of Hygiene and Tropical Medicine, London, UK.
Background: The ICH E9 (R1) addendum on Estimands and Sensitivity analysis in Clinical trials proposes a framework for the design and analysis of clinical trials aimed at improving clarity around the definition of the targeted treatment effect (the estimand) of a study.
Methods: We adopt the estimand framework in the context of a study using "trial emulation" to estimate the risk of pneumocystis pneumonia, an opportunistic disease contracted by people living with HIV and AIDS having a weakened immune system, when considering two antibiotic treatment regimes for stopping antibiotic prophylaxis treatment against this disease. A "while on treatment" strategy has been implemented for post-randomisation (intercurrent) events.
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