QJM: An International Journal of Medicine最新文献

Background: ALG8-congenital disorder of glycosylation (ALG8-CDG) is a rare inherited metabolic disorder leading to severe multisystem manifestations, with no reported prenatal patients to date.

Methods: We describe two fetuses from a single family with ALG8-CDG presenting with prenatal hydrops, undergoing comprehensive prenatal ultrasound, umbilical cord blood biochemistry, autopsy, placental pathology, and genetic testing.

Results: Prenatal ultrasound revealed fetal hydrops, skeletal anomalies, cardiac developmental abnormalities, cataracts, echogenic kidneys and bowel, oligohydramnios, choroid plexus cysts, and intrauterine growth restriction. Umbilical cord blood biochemistry demonstrated fetal anemia, coagulation disorders, and abnormal liver and kidney function. Autopsy confirmed fetal hydrops and associated anomalies. A novel compound heterozygous mutation comprising the missense variant c.754T>C (p.Ser252Pro) and a partial exonic deletion (deletion of exons 1-2) in the ALG8 gene was identified in fetus P2.

Conclusions: This study represents the first prenatal diagnosis of ALG8-CDG, comprehensively delineating the prenatal phenotypic spectrum. Prenatal ultrasound, umbilical cord blood biochemistry, and placental pathology findings aid in the assessment of prenatal manifestations, invaluable for prenatal diagnosis, genetic counseling, and potential interventions in future patients.

Background: The optimal approach to the diagnosis of atrial fibrillation in primary care is unclear.

Aim: To determine if external loop recorder (ELR) screening improves atrial fibrillation detection in community dwelling adults with a CHA2DS2-VASc score of greater than two.

Design: Randomised cross-over clinical trial.

Methods: Community dwelling adults ≥55 years with a CHA2DS2-VASc score of greater than two, who were deemed suitable for atrial fibrillation screening and oral anticoagulation by their general practitioner were randomly assigned to immediate or delayed ELR monitoring. The intervention period was ELR cardiac monitoring for 1 week and the usual care period was healthcare professional pulse screening and completion of electrocardiogram (ECG) or cardiac rhythm strip if pulse was identified as irregular.

Results: Of 488 participants randomized, 244 were assigned to the immediate monitoring period (intervention) and 244 were assigned to the delayed monitoring period. Mean (SD) age was 75.0 (7.0) years and 333 participants were women (68%). Atrial fibrillation was detected in 32 of 488 participants (6.6%) in the intervention period versus 5 of 488 (1%) in the usual care period (absolute difference, 5.53% (3.2%-7.9%), P < 0.001; number needed to screen 15 (11-23). Twelve cases (37.5%) of ELR-detected atrial fibrillation were greater than 24 hours in duration. Oral anticoagulation was initiated in all participants (n = 32).

Conclusions: Among older community dwelling adults with a CHA2DS2-VASc score of greater than 2, screening with ELR for one week was associated with a 5.5% incremental detection of new atrial fibrillation over usual care.

Trial registration: ClinicalTrials.gov Register: NCT03911986.

Background: Cardiovascular diseases (CVD) are leading contributors to global morbidity and mortality, significantly influenced by non-optimal temperatures. This study projects the impact of temperature fluctuations on CVD through 2050, considering environmental and climate changes.

Methods: Using Global Burden of Disease (GBD) study data, we analysed age-standardized death rates (ASDR) and disability-adjusted life years (ASR DALYs) related to non-optimal temperatures. We applied Estimated Annual Percentage Change (EAPC) for trend analysis and Auto-Regressive Integrated Moving Average (ARIMA) models for forecasting CVD mortality and DALYs from 2022 to 2050.

Results: EAPC analysis revealed a decline in CVD mortality rates, with a decrease of -0.32% for males (95% CI: -0.39% to -0.24%) and -0.42% for females (95% CI: -0.48% to -0.36%), indicating reduced mortality from non-optimal temperatures. Regions with higher Socio-Demographic Index (SDI) showed more significant declines. ARIMA forecasts predict a substantial increase in CVD burden with deaths projected to rise from 1.2 million in 2022 to 1.9 million by 2050, and DALYs expected to increase from 2.4 million to over 3 million during the same period.

Conclusion: The projected rise in CVD due to temperature variability highlights the need for robust health systems integrated with climate action to mitigate risks. This research underscores the importance of advancing SDG 3.4 to reduce non-communicable disease mortality and emphasizes climate considerations in health planning per SDG 13.