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Journal of the American Medical... Jul 2024Acute hepatic porphyria (AHP) is a group of rare but treatable conditions associated with diagnostic delays of 15 years on average. The advent of electronic health...
BACKGROUND
Acute hepatic porphyria (AHP) is a group of rare but treatable conditions associated with diagnostic delays of 15 years on average. The advent of electronic health records (EHR) data and machine learning (ML) may improve the timely recognition of rare diseases like AHP. However, prediction models can be difficult to train given the limited case numbers, unstructured EHR data, and selection biases intrinsic to healthcare delivery. We sought to train and characterize models for identifying patients with AHP.
METHODS
This diagnostic study used structured and notes-based EHR data from 2 centers at the University of California, UCSF (2012-2022) and UCLA (2019-2022). The data were split into 2 cohorts (referral and diagnosis) and used to develop models that predict (1) who will be referred for testing of acute porphyria, among those who presented with abdominal pain (a cardinal symptom of AHP), and (2) who will test positive, among those referred. The referral cohort consisted of 747 patients referred for testing and 99 849 contemporaneous patients who were not. The diagnosis cohort consisted of 72 confirmed AHP cases and 347 patients who tested negative. The case cohort was 81% female and 6-75 years old at the time of diagnosis. Candidate models used a range of architectures. Feature selection was semi-automated and incorporated publicly available data from knowledge graphs. Our primary outcome was the F-score on an outcome-stratified test set.
RESULTS
The best center-specific referral models achieved an F-score of 86%-91%. The best diagnosis model achieved an F-score of 92%. To further test our model, we contacted 372 current patients who lack an AHP diagnosis but were predicted by our models as potentially having it (≥10% probability of referral, ≥50% of testing positive). However, we were only able to recruit 10 of these patients for biochemical testing, all of whom were negative. Nonetheless, post hoc evaluations suggested that these models could identify 71% of cases earlier than their diagnosis date, saving 1.2 years.
CONCLUSIONS
ML can reduce diagnostic delays in AHP and other rare diseases. Robust recruitment strategies and multicenter coordination will be needed to validate these models before they can be deployed.
PubMed: 38946554
DOI: 10.1093/jamia/ocae141 -
Journal of Women's Health (2002) Jul 2024Military sexual trauma (MST) is more common among post-9/11 Veterans and women versus older Veterans and men. Despite mandatory screening, the concordance of electronic...
Electronic Health Record Concordance with Survey-Reported Military Sexual Trauma Among Younger Veterans: Associations with Health Care Utilization and Mental Health Diagnoses.
Military sexual trauma (MST) is more common among post-9/11 Veterans and women versus older Veterans and men. Despite mandatory screening, the concordance of electronic health record (EHR) documentation and survey-reported MST, and associations with health care utilization and mental health diagnoses, are unknown for this younger group. Veterans' Health Administration (VHA) EHR (2001-2021) were merged with data from the observational, nationwide WomenVeterans Cohort Study (collected 2016-2020, = 1058; 51% women). Experiencing MST was defined as positive endorsement of sexual harassment and/or assault. From the EHR, we derived Veterans' number of primary care and mental health visits in the initial two years of VHA care and diagnoses of posttraumatic stress disorder (PTSD), depression, and anxiety. First, the concordance of EHR MST screening and survey-reported MST was compared. Next, multivariate analyses tested the cross-sectional associations of EHR screening and survey-reported MST with Veterans' health care utilization, and compared the likelihood of PTSD, depression, and anxiety diagnoses by MST group, while covarying demographics and service-related characteristics. With few MST cases among men, multivariate analyses were only pursued for women. Overall, 29% of women and 2% of men screened positive for MST in the EHR, but 64% of women and 9% of men had survey-reported MST. Primary care utilization was similar between women with concordant, positive MST reports in the EHR and survey versus those with survey-reported MST only. Women with survey-reported MST only were less likely to have a PTSD or depression diagnosis than those with concordant, positive MST reports. There was no group difference in women's likelihood of anxiety. EHR MST documentation is discordant for many post-9/11 Veterans-both for men and women. Improving MST screening and better supporting MST disclosure are each critical to provide appropriate and timely care for younger Veterans, particularly women.
PubMed: 38946553
DOI: 10.1089/jwh.2023.0993 -
BJOG : An International Journal of... Jul 2024To investigate the association between postpartum haemorrhage (PPH) and subsequent cardiovascular disease.
OBJECTIVE
To investigate the association between postpartum haemorrhage (PPH) and subsequent cardiovascular disease.
DESIGN
Population-based retrospective cohort study, using record linkage between Aberdeen Maternity and Neonatal Databank (AMND) and Scottish healthcare data sets.
SETTING
Grampian region, Scotland.
POPULATION
A cohort of 70 904 women who gave birth after 24 weeks of gestation in the period 1986-2016.
METHODS
We used extended Cox regression models to investigate the association between having had one or more occurrences of PPH in any (first or subsequent) births (exposure) and subsequent cardiovascular disease, adjusted for sociodemographic, medical, and pregnancy and birth-related factors.
MAIN OUTCOME MEASURES
Cardiovascular disease identified from the prescription of selected cardiovascular medications, hospital discharge records or death from cardiovascular disease.
RESULTS
In our cohort of 70 904 women (with 124 795 birth records), 25 177 women (36%) had at least one PPH. Compared with not having a PPH, having at least one PPH was associated with an increased risk of developing cardiovascular disease, as defined above, in the first year after birth (adjusted hazard ratio, aHR 1.96; 95% confidence interval, 95% CI 1.51-2.53; p < 0.001). The association was attenuated over time, but strong evidence of increased risk remained at 2-5 years (aHR 1.19, 95% CI 1.11-1.30, P < 0.001) and at 6-15 years after giving birth (aHR 1.17, 95% CI 1.05-1.30, p = 0.005).
CONCLUSIONS
Compared with women who have never had a PPH, women who have had at least one episode of PPH are twice as likely to develop cardiovascular disease in the first year after birth, and some increased risk persists for up to 15 years.
PubMed: 38946538
DOI: 10.1111/1471-0528.17896 -
European Journal of Public Health Jul 2024Contact tracing is a public health intervention implemented in synergy with other preventive measures to curb epidemics, like the coronavirus pandemic. The development...
BACKGROUND
Contact tracing is a public health intervention implemented in synergy with other preventive measures to curb epidemics, like the coronavirus pandemic. The development and use of digital devices have increased worldwide to enhance the contact tracing process. The aim of the study was to evaluate the effectiveness and impact of tracking coronavirus disease 2019 (COVID-19) patients using digital solutions.
METHODS
Observational studies on digital contact tracing (DCT), published 2020-21, in English were identified through a systematic literature review performed on nine online databases. An ad hoc form was used for data extraction of relevant information. Quality assessment of the included studies was performed with validated tools. A qualitative synthesis of the findings is reported.
RESULTS
Over 8000 records were identified and 37 were included in the study: 24 modelling and 13 population-based studies. DCT improved the identification of close contacts of COVID-19 cases and reduced the effective reproduction number of COVID-19-related infections and deaths by over 60%. It impacted positively on societal and economic costs, in terms of lockdowns and use of resources, including staffing. Privacy and security issues were reported in 27 studies.
CONCLUSIONS
DCT contributed to curbing the COVID-19 pandemic, especially with the high uptake rate of the devices and in combination with other public health measures, especially conventional contact tracing. The main barriers to the implementation of the devices are uptake rate, security and privacy issues. Public health digitalization and contact tracing are the keys to countries' emergency preparedness for future health crises.
Topics: COVID-19; Humans; Contact Tracing; SARS-CoV-2; Pandemics; Digital Technology; Public Health
PubMed: 38946444
DOI: 10.1093/eurpub/ckae039 -
International Journal of Food Sciences... Jul 2024This study aims to investigate longitudinal associations between the dietary glycemic index (GI) and glycemic load (GL) and changes in glycemic and cardio-metabolic...
Dietary glycemic index and glycemic load predict longitudinal change in glycemic and cardio-metabolic biomarkers among old diabetic adults living in a resource-poor country.
This study aims to investigate longitudinal associations between the dietary glycemic index (GI) and glycemic load (GL) and changes in glycemic and cardio-metabolic outcomes. A 28-month retrospective cohort study included 110 Vietnamese diabetic patients, collecting their dietary GI and GL values along with blood biochemical data from baseline 24-h dietary recall and medical records. Latent class growth modelling identified three distinct HbA1c trajectories during the follow-up period, with 51% of patients achieving good glycemic control. The adjusted linear mixed-effect model showed that 1 unit increase in logarithms in dietary GL was associated with a 0.14% increase in the log-HbA1c. Among poorly controlled diabetic patients, baseline GL values were positively correlated with increases in HbA1c; GI showed effects on changes in fasting plasma glucose and the triglyceride-glucose (TyG) index. No significant association was observed in patients with good glycemic control.
PubMed: 38946436
DOI: 10.1080/09637486.2024.2368843 -
European Journal of Preventive... Jul 2024Although parity, infertility, and age at first birth are important for later development of cardiovascular disease, research on their association with atrial...
AIMS
Although parity, infertility, and age at first birth are important for later development of cardiovascular disease, research on their association with atrial fibrillation (AF) is limited.
METHODS
We linked data from the population-based HUNT study, the Medical Birth Registry of Norway (MBRN) and validated medical records from local hospitals. A total of 24,015 women aged 45 years or older were followed for verified incident AF. Parity and age at first birth were retrieved from the MBRN or from self-reported questionnaires in the HUNT. History of infertility was self-reported on the HUNT questionnaire. Cox-proportional hazard models were used to calculate hazard ratios (HR) for the multivariable-adjusted associations of parity, infertility, and age at first birth with risk of AF.
RESULTS
During a median follow-up of 12.8 years, 1,448 (6.0%) participants developed AF. Women with higher parity (four or more births vs. two births) were at 21% higher risk of AF (HR 1.21, 95% confidence interval (CI), 1.05-1.39). History of infertility was also associated with risk of AF (HR 1.20, 95% CI, 1.02-1.42). Among parous women, younger age at first birth (<20 years vs. 20-29 years) was associated with a 20% higher risk of AF (HR 1.20, 95% CI, 1.03-1.40).
CONCLUSION
Women with four or more births, or a history of infertility, or younger age at first birth have approximately a 20% higher risk of AF among women over 45 years old.
PubMed: 38946335
DOI: 10.1093/eurjpc/zwae215 -
Blood Pressure Monitoring Aug 2024A novel automated auscultatory upper arm cuff blood pressure (BP) monitor KOROT V2 Doctor (InBody BPBIO280KV) was developed for professional use. An electronic...
Validation of a novel professional automated auscultatory upper-arm cuff blood pressure monitor in a general population according to the AAMI/ESH/ISO Universal Standard: KOROT V2 Doctor (InBody BPBIO280KV).
OBJECTIVE
A novel automated auscultatory upper arm cuff blood pressure (BP) monitor KOROT V2 Doctor (InBody BPBIO280KV) was developed for professional use. An electronic stethoscope embedded in the device cuff records the Korotkoff sounds, which are graphically displayed during deflation allowing visual evaluation by the healthcare professional. The device provides automated measurements of BP and this study evaluated its accuracy.
METHODS
The requirements of the Association for the Advancement of Medical Instrumentation/European Society of Hypertension/International Organization for Standardization (AAMI/ESH/ISO) Universal Standard (ISO 81060-2:2018) and its Amendment 1.2020-01 were applied. Participants were recruited to fulfill the age, sex, BP, arm circumference, and cuff distribution criteria of the Universal Standard and its Amendment in a general population using the same arm sequential measurement method. Three cuffs of the test device were tested for arm circumference 23-28, 28-35, and 33-42 cm.
RESULTS
Data from 85 individuals were analyzed [mean age: 56.4 ± 16.0 (SD) years, 50 men, arm circumference 23-42 cm]. For validation Criterion 1, the mean difference ±SD between the test device and reference BP readings (N = 255) was -1.3 ± 6.0/1.5 ± 5.0 mmHg (systolic/diastolic; threshold ≤5 ± 8 mmHg). For Criterion 2, the SD of the averaged BP differences per individual (N = 85) was 4.61/3.48 mmHg (systolic/diastolic; threshold ≤6.82/6.78 mmHg).
CONCLUSION
The KOROT V2 Doctor (InBody BPBIO280KV) device for professional use, which provides automated auscultatory measurements with visual display of the Korotkoff sounds, comfortably fulfills all the requirements of the AAMI/ESH/ISO Universal Standard (ISO 81060-2:2018) in a general population and can be recommended for clinical use.
Topics: Humans; Male; Female; Middle Aged; Aged; Adult; Blood Pressure Determination; Blood Pressure Monitors; Auscultation; Arm; Blood Pressure
PubMed: 38946333
DOI: 10.1097/MBP.0000000000000707 -
Journal of Audiology & Otology Jul 2024: Various materials are used to perform post-mastoidectomy mastoid obliteration (MO) to reduce the risk of recurrent infections, stasis of secretions, or caloric...
BACKGROUND AND OBJECTIVES
: Various materials are used to perform post-mastoidectomy mastoid obliteration (MO) to reduce the risk of recurrent infections, stasis of secretions, or caloric dizziness. Autologous materials used as fillers for MO tend to be insufficient owing to shrinkage over time or inadequate volume of these substances. Synthetic materials are unsatisfactory for MO because of the risk of rejection and extrusion. We investigated the safety and effectiveness of bone allografts for post-mastoidectomy MO.
SUBJECTS AND METHODS
: We reviewed the medical records of patients who underwent mastoidectomy with MO between January 2013 and January 2021. In the MO group, bone allografts were additionally used to fill the residual mastoid cavity. In the canal wall down (CWD) group, all patients underwent CWD mastoidectomy with use of additional inferiorly based mucoperiosteal flaps.
RESULTS
: The study included the MO group (23 ears) and the CWD group (53 ears). In the MO group, compared with the preoperative status, we observed a decrease in the tendency of the air-bone gap postoperatively. Compared with the CWD group, the total complication rate showed a decreasing tendency in the MO group.
CONCLUSIONS
: No patient showed post-MO shrinkage of the grafted bone allograft or otorrhea. Further large-scale studies are warranted to confirm the advantages of bone allografts for MO, including maintenance with time and sufficient amount.
PubMed: 38946329
DOI: 10.7874/jao.2023.00367 -
Gynecological Endocrinology : the... Dec 2024To determine whether ultrasonic manifestations of Hashimoto's thyroiditis (HT) related to embryo qualities or pregnancy outcomes in women with thyroid autoimmunity (TAI)...
OBJECTIVE
To determine whether ultrasonic manifestations of Hashimoto's thyroiditis (HT) related to embryo qualities or pregnancy outcomes in women with thyroid autoimmunity (TAI) undergoing fertilization/intracytoplasmic sperm injection.
METHODS
Our study was a retrospective cohort study. A total of 589 euthyroid women enrolled from January 2017 to December 2019. 214 TAI women and 375 control women were allocated in each group according to serum levels of thyroid peroxidase antibodies (TPOAb) and/or anti-thyroglobulin antibodies (TgAb). Basal serum hormone levels and thyroid ultrasound were assessed, embryo qualities, pregnancy outcomes were collected from medical records. Diagnosis of thyroid ultrasound was used for subanalysis. Logistic regression was used to evaluate outcomes of embryo development and pregnancy.
RESULTS
Implantation rate was significantly lower in euthyroid women with TAI compared with control group (TAI group: 65.5% vs. Control group: 73.0%, adjusted OR (95% CI): 0.65 (0.44, 0.97), = 0.04). We further stratified TAI group into two groups: one group with HT features under ultrasound and another group with normal thyroid ultrasound. After regression analysis, TAI women with HT morphological changes had a lower chance of implantation compared with control group (TAI group with HT: 64.1% vs. Control group: 73.0%, adjusted OR (95% CI): 0.63 (0.41, 0.99), = 0.04), while there was no significant difference on implantation rate between TAI women with normal thyroid ultrasound and control group. Other outcomes, such as embryo qualities and pregnancy rate, were comparable between TAI and control groups.
CONCLUSIONS
A higher risk of implantation failure was seen among euthyroid women with TAI, especially women with HT morphological changes under ultrasound. The underlying mechanisms of implantation failure among euthyroid HT patients need further research.
Topics: Humans; Female; Adult; Pregnancy; Sperm Injections, Intracytoplasmic; Retrospective Studies; Embryo Implantation; Thyroid Gland; Ultrasonography; Fertilization in Vitro; Hashimoto Disease; Pregnancy Rate; Autoantibodies; Pregnancy Outcome; Autoimmunity
PubMed: 38946301
DOI: 10.1080/09513590.2024.2368832 -
The American Journal of Psychiatry Jul 2024
Topics: Humans; Depressive Disorder, Treatment-Resistant; Medical Records
PubMed: 38946279
DOI: 10.1176/appi.ajp.20240377