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Poor treatment outcomes of children on highly active antiretroviral therapy: protocol for a systematic review and meta-analysisWhile access to highly active antiretroviral therapy (HAART) for children with HIV has expanded and the use of HAART has substantially reduced the morbidity and mortality of children due to HIV, poor treatment outcomes among children with HIV are still a major public health problem globally. The aim of this systematic review and meta-analysis is to quantify treatment outcomes among children with HIV.
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Early disease surveillance in young children with cystic fibrosis: A qualitative analysis of parent experiencesSensitive measures of early lung disease are being integrated into therapeutic trials and clinical practice in cystic fibrosis (CF). The impact of early disease surveillance (EDS) using these novel and often intensive techniques on young children and their families is not well researched.
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Vascular Effects of ACE (Angiotensin-Converting Enzyme) Inhibitors and Statins in Adolescents With Type 1 DiabetesAn increased albumin-creatinine ratio within the normal range can identify adolescents at higher risk of developing adverse cardio-renal outcomes as they progress into adulthood. Utilizing a parallel randomized controlled trial and observational cohort study, we characterized the progression of vascular phenotypes throughout this important period and investigated the effect of ACE (angiotensin-converting enzyme) inhibitors and statins in high-risk adolescents.
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Spatial analysis of hepatobiliary abnormalities in a population at high-risk of cholangiocarcinoma in ThailandCholangiocarcinoma (CCA) is a serious health challenge with low survival prognosis. The liver fluke, Opisthorchis viverrini, plays a role in the aetiology of CCA, through hepatobiliary abnormalities: liver mass (LM), bile duct dilation, and periductal fibrosis (PDF). A population-based CCA screening program, the Cholangiocarcinoma Screening and Care Program, operates in Northeast Thailand. Hepatobiliary abnormalities were identified through ultrasonography.
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Microbiomic Analysis on Low Abundant Respiratory Biomass Samples; Improved Recovery of Microbial DNA From Bronchoalveolar Lavage FluidIn recent years the study of the commensal microbiota is driving a remarkable paradigm shift in our understanding of human physiology. However, intrinsic technical difficulties associated with investigating the Microbiomics of some body niches are hampering the development of new knowledge. This is particularly the case when investigating the functional role played by the human microbiota in modulating the physiology of key organ systems. A major hurdle in investigating specific Microbiome communities is linked to low bacterial density and susceptibility to bias caused by environmental contamination.
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Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC-7 MutantsClC-7 is a chloride-proton antiporter of the CLC protein family. In complex with its accessory protein Ostm-1, ClC-7 localizes to lysosomes and to the osteoclasts' ruffled border, where it plays a critical role in acidifying the resorption lacuna during bone resorption. Gene inactivation in mice causes severe osteopetrosis, neurodegeneration, and lysosomal storage disease. Mutations in the human CLCN7 gene are associated with diverse forms of osteopetrosis.
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SMART Work Design: Accelerating the Diagnosis of Rare Diseases in the Western Australian Undiagnosed Diseases ProgramThe accurate and efficient diagnosis of rare diseases, many of which include congenital anomalies, depends largely on the specialists who diagnose them - including their ability to work alongside specialists from other fields and to take full advantage of cutting-edge precision medicine technologies and precision public health approaches.
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Understanding group A streptococcal pharyngitis and skin infections as causes of rheumatic fever: Protocol for a prospective disease incidence studyThis study will identify the incidence of true Group A Streptococcal pharyngitis and serological responses to Group A Streptococcal GAS skin infections
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RD-RAP: Beyond rare disease patient registries, devising a comprehensive data and analytic frameworkWe introduce and describe the concept of a Rare Disease Registry and Analytics Platform
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Golden Age of Medicine 2.0: Lifestyle Medicine and Planetary Health PrioritizedWe emphasize that barriers to planetary health and the clinical application of lifestyle medicine are maintaining an unhealthy status quo