More than 50 neurological and neuromuscular diseases are caused by short tandem repeat (STR) expansions, with 37 different genes implicated to date. We describe the use of programmable targeted long-read sequencing with Oxford Nanopore’s ReadUntil function for parallel genotyping of all known neuropathogenic STRs in a single assay. Our approach enables accurate, haplotype-resolved assembly and… Continue reading Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing
Author: aledopress
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Exploring Overweight Risk Trajectories During Childhood and Their Associations With Elevated Blood Pressure at Late Adolescence: a Retrospective Cohort Study
Background:Overweight during childhood is significantly associated with higher risk of high blood pressure (HBP) in later life. However, recognition of critical intervention period is limited. We aimed to analyze the changes in overweight risk during school-age and its relationship with HBP. Methods:Seventeen thousand eight hundred sixteen school-aged children (53.9% boys) with a mean follow-up time… Continue reading Exploring Overweight Risk Trajectories During Childhood and Their Associations With Elevated Blood Pressure at Late Adolescence: a Retrospective Cohort Study
Risk of cancer in regular and low meat-eaters, fish-eaters, and vegetarians: a prospective analysis of UK Biobank participants
Following a vegetarian diet has become increasingly popular and some evidence suggests that being vegetarian may be associated with a lower risk of cancer overall. However, for specific cancer sites, the evidence is limited. Our aim was to assess the associations of vegetarian and non-vegetarian diets with risks of all cancer, colorectal cancer, postmenopausal breast… Continue reading Risk of cancer in regular and low meat-eaters, fish-eaters, and vegetarians: a prospective analysis of UK Biobank participants
Vitamins D2 and D3 Have Overlapping But Different Effects on the Human Immune System Revealed Through Analysis of the Blood Transcriptome
Vitamin D is best known for its role in maintaining bone health and calcium homeostasis. However, it also exerts a broad range of extra-skeletal effects on cellular physiology and on the immune system. Vitamins D2 and D3 share a high degree of structural similarity. Functional equivalence in their vitamin D-dependent effects on human physiology is… Continue reading Vitamins D2 and D3 Have Overlapping But Different Effects on the Human Immune System Revealed Through Analysis of the Blood Transcriptome
Muscle-strengthening activities are associated with lower risk and mortality in major non-communicable diseases: a systematic review and meta-analysis of cohort studies
Objective To quantify the associations between muscle-strengthening activities and the risk of non-communicable diseases and mortality in adults independent of aerobic activities. Design Systematic review and meta-analysis of prospective cohort studies. Data sources MEDLINE and Embase were searched from inception to June 2021 and the reference lists of all related articles were reviewed. Eligibility criteria… Continue reading Muscle-strengthening activities are associated with lower risk and mortality in major non-communicable diseases: a systematic review and meta-analysis of cohort studies
Effectiveness of the BNT162b2 vaccine among children 5-11 and 12-17 years in New York after the Emergence of the Omicron Variant
Importance: There is limited evidence on the effectiveness of the BNT162b2 vaccine for children, particularly those 5-11 years and after the Omicron variant's emergence. Objective: To estimate BNT162b2 vaccine effectiveness against COVID cases and hospitalizations among children 5-11 years and 12-17 years during December, 2021 and January, 2022. Design: Analyses of cohorts constructed from linked… Continue reading Effectiveness of the BNT162b2 vaccine among children 5-11 and 12-17 years in New York after the Emergence of the Omicron Variant
Retrospective Study of Outcomes and Hospitalization Rates of Patients in Italy with a Confirmed Diagnosis of Early COVID-19 and Treated at Home Within 3 Days or After 3 Days of Symptom Onset with Prescribed and Non-Prescribed Treatments Between November 2020 and August 2021
This retrospective study aimed to investigate outcomes and hospitalization rates in patients with a confirmed diagnosis of early COVID-19 treated at home with prescribed and non-prescribed treatments. MATERIAL AND METHODS: The medical records of a cohort of 158 Italian patients with early COVID-19 treated at home were analyzed. Treatments consisted of indomethacin, low-dose aspirin, omeprazole,… Continue reading Retrospective Study of Outcomes and Hospitalization Rates of Patients in Italy with a Confirmed Diagnosis of Early COVID-19 and Treated at Home Within 3 Days or After 3 Days of Symptom Onset with Prescribed and Non-Prescribed Treatments Between November 2020 and August 2021
Sodium-containing acetaminophen and cardiovascular outcomes in individuals with and without hypertension
AimsPrevious studies have found high sodium intake to be associated with increased risks of cardiovascular disease (CVD) and all-cause mortality among individuals with hypertension; findings on the effect of intake among individuals without hypertension have been equivocal. We aimed to compare the risks of incident CVD and all-cause mortality among initiators of sodium-containing acetaminophen with… Continue reading Sodium-containing acetaminophen and cardiovascular outcomes in individuals with and without hypertension
FIPS Score for Prediction of Survival After TIPS Placement: External Validation and Comparison With Traditional Risk Scores in a Cohort of Chinese Patients With Cirrhosis
Various prognostic scores for patients with chronic liver disease have been applied for predicting survival after transjugular intrahepatic portosystemic shunt (TIPS) placement. In 2021, the Freiburg index of post-TIPS survival (FIPS) score was developed specifically for predicting survival after TIPS placement. The score has exhibited variable performance in initial investigations conducted in German and U.S.… Continue reading FIPS Score for Prediction of Survival After TIPS Placement: External Validation and Comparison With Traditional Risk Scores in a Cohort of Chinese Patients With Cirrhosis
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