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Journal of Epidemiology and Community... Jun 2024Stroke is increasingly prevalent at younger ages but the risk factors are uncertain. We examined the association between adolescent cognitive function and early-onset...
BACKGROUND
Stroke is increasingly prevalent at younger ages but the risk factors are uncertain. We examined the association between adolescent cognitive function and early-onset stroke.
METHODS
This was a nationwide population-based cohort study of 1 741 345 Israeli adolescents (42% women) who underwent comprehensive cognitive function tests at age 16-20 years, before mandatory military service, during 1987-2012. Cognitive function (range: 1-9) was categorised as low (1-3, corresponding to IQ score below 89), medium (4-7, IQ score range: 89-118), or high (8-9, IQ score above 118). Participant data were linked to the Israeli National Stroke Registry. Cox proportional hazard models were used to estimate risks for the first occurrence of ischaemic stroke during 2014-2018.
RESULTS
During 8 689 329 person-years of follow-up, up to a maximum age of 50 years, 908 first stroke events occurred (767 ischaemic and 141 haemorrhagic). Compared with a reference group of people with high cognitive function, body mass index-adjusted and sociodemographic-adjusted HRs (95% CIs) for early-onset stroke were 1.78 (1.33-2.38) in medium and 2.68 (1.96-3.67) in low cognitive function groups. There was evidence of a dose-response relationship ( for trend <0.0001) such that one-unit of lower cognitive function z-score was associated with a 33% increased risk of stroke (1.33; 1.23-1.42). These associations were similar for ischaemic stroke but lower for haemorrhagic stroke; persisted in sensitivity analyses that accounted for diabetes status and hypertension; and were evident before age 40 years.
CONCLUSIONS
Alongside adolescent obesity and hypertension, lower cognitive function may be a risk factor for early-onset stroke.
PubMed: 38937113
DOI: 10.1136/jech-2024-222114 -
Sexually Transmitted Infections Jun 2024A number of females with pelvic inflammatory disease will present to general surgical services with non-specific abdominal pain. Screening for sexually transmitted...
Embedding a novel screening programme for sexually transmitted infections (chlamydia and gonorrhoea) within an ambulatory emergency surgical assessment unit: an observational cohort study.
BACKGROUND
A number of females with pelvic inflammatory disease will present to general surgical services with non-specific abdominal pain. Screening for sexually transmitted infections (STI) as an underlying cause is not routinely offered. We therefore established an STI screening programme for young females presenting to a same day emergency ambulatory surgical clinic as part of the diagnostic pathway. Data outlining the incidence and prevalence of STIs as the underlying cause of lower abdominal pain were collected.
METHODS
We conducted an observational cohort study. Self-collected vulvovaginal swabs for chlamydia and gonorrhoea were offered as part of a standardised diagnostic pathway for all females meeting inclusion criteria presenting with abdominal pain. Positive results were referred to our local sexual health team for treatment and contact tracing.
RESULTS
The cohort comprised 297 eligible patients; 259 participated, 20 patients declined testing and 18 samples were rejected as inadequate in the laboratory. 5.4% of swab results were positive (2 gonorrhoea and 12 chlamydia). All patients with positive swabs had presented with lower abdominal pain and of these only 21% had a documented sexual history.
CONCLUSION
Undiagnosed STIs are prevalent, with significant fertility and public health risks. Young females seeking medical assessment for abdominal pain provide an opportunistic screening cohort with a likely subset of patients presenting with abdominal pain as a direct result of an STI. Our results demonstrate a high incidence of positive tests, suggesting further training of surgeons to include a sexual history in assessment of females with abdominal pain is vital.
PubMed: 38937097
DOI: 10.1136/sextrans-2023-056024 -
Journal of Neurointerventional Surgery Jun 2024Mechanical thrombectomy (MT) is the standard of care for acute ischemic stroke (AIS) patients with large vessel occlusion (LVO). The SOFAST study collected clinical...
SOFIA Aspiration System as first-line Technique (SOFAST): a prospective, multicenter study to assess the efficacy and safety of the 6 French SOFIA Flow Plus aspiration catheter for endovascular stroke thrombectomy.
BACKGROUND
Mechanical thrombectomy (MT) is the standard of care for acute ischemic stroke (AIS) patients with large vessel occlusion (LVO). The SOFAST study collected clinical evidence on the safety and efficacy of the 6 French SOFIA Flow Plus aspiration catheter (SOFIA 6F) when used as first-line treatment.
METHODS
This was a prospective, multicenter investigation to assess the safety and efficacy of SOFIA 6F used for first-line aspiration. Anterior circulation LVO stroke patients were enrolled. The primary endpoint was the final modified Thrombolysis in Cerebral Infarction (mTICI)≥2b rate. Secondary endpoints included first-pass and first-line mTICI≥2b rates, times from arteriotomy to clot contact and mTICI≥2b, and 90-day modified Rankin Scale (mRS)≤2. First-line and final mTICI scores were adjudicated by an independent imaging core lab. Safety events were assessed by an independent clinical events adjudicator.
RESULTS
A total of 108 patients were enrolled across 12 centers from July 2020 to June 2022. Median age was 67 years, median National Institutes of Health Stroke Scale (NIHSS) was 15.5, and 56.5% of patients received intravenous thrombolytics. At the end of the procedure, 97.2%, 85.2%, and 55.6% of patients achieved mTICI≥2b, ≥2c, and 3, respectively. With SOFIA 6F first-line aspiration, 87.0%, 79.6%, and 52.8% achieved mTICI≥2b, ≥2c, and 3, respectively. After the first pass, 75.0%, 70.4%, and 50.9% achieved mTICI≥2b, ≥2c, and 3, respectively. Median times from arteriotomy to clot contact and successful revascularization were 12 and 17 min, respectively. At 90 days, 66.7% of patients achieved mRS≤2.
CONCLUSIONS
First-line aspiration with SOFIA 6F is safe and effective with high revascularization rates and short procedure times.
PubMed: 38937082
DOI: 10.1136/jnis-2024-021811 -
Journal of Medical Genetics Jun 2024Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as DNA methyltransferase 3 alpha ()-overgrowth syndrome (DOS), was first described by Tatton-Brown in 2014....
BACKGROUND
Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as DNA methyltransferase 3 alpha ()-overgrowth syndrome (DOS), was first described by Tatton-Brown in 2014. This syndrome is characterised by overgrowth, intellectual disability and distinctive facial features and is the consequence of germline loss-of-function variants in , which encodes a DNA methyltransferase involved in epigenetic regulation. Somatic variants of are frequently observed in haematological malignancies, including acute myeloid leukaemia (AML). To date, 100 individuals with TBRS with de novo germline variants have been described. We aimed to further characterise this disorder clinically and at the molecular level in a nationwide series of 24 French patients and to investigate the correlation between the severity of intellectual disability and the type of variant.
METHODS
We collected genetic and medical information from 24 individuals with TBRS using a questionnaire released through the French National AnDDI-Rares Network.
RESULTS
Here, we describe the first nationwide French cohort of 24 individuals with germline likely pathogenic/pathogenic variants in , including 17 novel variants. We confirmed that the main phenotypic features were intellectual disability (100% of individuals), distinctive facial features (96%) and overgrowth (87%). We highlighted novel clinical features, such as hypertrichosis, and further described the neurological features and EEG results.
CONCLUSION
This study of a nationwide cohort of individuals with TBRS confirms previously published data and provides additional information and clarifies clinical features to facilitate diagnosis and improve care. This study adds value to the growing body of knowledge on TBRS and broadens its clinical and molecular spectrum.
PubMed: 38937076
DOI: 10.1136/jmg-2024-110031 -
Immunology and Allergy Clinics of North... Aug 2024A clear disease classification schema coupled with an understanding of the specific mechanisms involved in the different types of angioedema without hives informs the... (Review)
Review
A clear disease classification schema coupled with an understanding of the specific mechanisms involved in the different types of angioedema without hives informs the diagnostic assessment. The recommended approach involves several key steps. Foremost is the recognizing of the clinical clues which allow for the differentiation of mast cell-mediated disorders from bradykinin-mediated angioedema. Enhanced vascular permeability related to bradykinin is of critical importance to identify given the implications for disease morbidity and risk of mortality. The ability to efficiently categorize and diagnose all forms of angioedema results in improved patient outcomes.
Topics: Humans; Angioedema; Mast Cells; Bradykinin; Diagnosis, Differential; Capillary Permeability
PubMed: 38937014
DOI: 10.1016/j.iac.2024.03.010 -
Global Health, Science and Practice Jun 2024Countries that are high burden for TB must reverse the COVID-19 pandemic's devastating effects to accelerate progress toward ending TB. Vietnam's Double X (2X) strategy...
Countries that are high burden for TB must reverse the COVID-19 pandemic's devastating effects to accelerate progress toward ending TB. Vietnam's Double X (2X) strategy uses chest radiography (CXR) and GeneXpert (Xpert) rapid diagnostic testing to improve early detection of TB disease. Household contacts and vulnerable populations (e.g., individuals aged 60 years and older, smokers, diabetics, those with alcohol use disorders, and those previously treated for TB) with and without TB symptoms were screened in community campaigns using CXRs, followed by Xpert for those with a positive screen. In public non-TB district facilities, diabetics, respiratory outpatients, inpatients with lung disease, and other vulnerable populations underwent 2X evaluation. During COVID-19 restrictions in Vietnam, the 2X strategy improved access to TB services by decentralization to commune health stations, the lowest level of the health system, and enabling self-screening using a quick response mobile application. The number needed to screen (NNS) with CXRs to diagnose 1 person with TB disease was calculated for all 2X models and showed the highest yield among self-screeners (11 NNS with CXR), high yield for vulnerable populations in communities (60 NNS) and facilities (19 NNS), and moderately high yield for household contacts in community campaigns (154 NNS). Computer-aided diagnosis for CXRs was incorporated into community and facility implementation and improved physicians' CXR interpretations and Xpert referral decisions. Integration of TB infection and TB disease evaluation increased eligibility for TB preventive treatment among household contacts, a major challenge during implementation. The 2X strategy increased the rational use of Xpert, employing a health system-wide approach that reached vulnerable populations with and without TB symptoms in communities and facilities for early detection of TB disease. This strategy was effectively adapted to different levels of the health system during COVID-19 restrictions and contributed to post-pandemic TB recovery in Vietnam.
Topics: Humans; Vietnam; COVID-19; Tuberculosis, Pulmonary; Mass Screening; SARS-CoV-2; Middle Aged; Radiography, Thoracic; Tuberculosis; Female; Pandemics; Male; Vulnerable Populations
PubMed: 38936961
DOI: 10.9745/GHSP-D-24-00024 -
In Vivo (Athens, Greece) 2024Hearing impairment affects a small but significant percentage of newborns (0.1-0.4%). Newborn hearing screening (NHS) is recommended for early detection and treatment....
BACKGROUND/AIM
Hearing impairment affects a small but significant percentage of newborns (0.1-0.4%). Newborn hearing screening (NHS) is recommended for early detection and treatment. The implementation of NHS can vary among countries. In this study, we present the methodology, organization, and technical requirements of NHS. This study analyzed results from a tertiary hospital, identified issues, and proposed solutions.
PATIENTS AND METHODS
In the studied region, there are five maternity hospitals and a perinatal intensive care center and in 2020, there were 5,864 live births. Screening is performed at three levels. The first screening is conducted on the 2-3 day of a newborn's life in a maternity hospital, the first rescreening on the 3-6 week at a relevant ENT department, and the second rescreening on the 3-6 month of life at the regional screening center where the central database is also held.
RESULTS
In the studied region, 5,793 out of 5,864 (98.79%) newborns received NHS in 2020. Of these, 120 (2.07%) were tested positive on their first screening. Ninety-four patients (78.3%) of those attended the ENT department for a first rescreening. Thirty-four patients (0.59% of total) were tested positive again and referred to the regional screening center. Out of the 27 patients who attended the second rescreening, four (0.07% of the total) were ultimately diagnosed with hearing impairment.
CONCLUSION
Our study found that newborn hearing screening (NHS) in our region achieved a high compliance rate of 98.8% for initial screenings in 2020. However, challenges remain in the rescreening process due to data management issues, inter-regional cooperation, and public awareness. The recent implementation of mandatory screenings, updated guidelines, and a centralized database is expected to enhance the effectiveness of NHS. Further research is needed to evaluate these improvements.
Topics: Humans; Infant, Newborn; Neonatal Screening; Hearing Tests; Hearing Loss; Female; Male
PubMed: 38936904
DOI: 10.21873/invivo.13650 -
The British Journal of General Practice... Jul 2024
Topics: Humans; Psoriasis; Mass Screening
PubMed: 38936859
DOI: 10.3399/bjgp24X738753 -
The Journal of Thoracic and... Jun 2024Shape-sensing robotic-assisted bronchoscopy (ssRAB) is an emerging technology for the sampling of pulmonary lesions. We seek to characterize the ssRAB learning curve at...
OBJECTIVE
Shape-sensing robotic-assisted bronchoscopy (ssRAB) is an emerging technology for the sampling of pulmonary lesions. We seek to characterize the ssRAB learning curve at an academic center.
METHODS
SsRAB procedures performed by 9 proceduralists at a single institution were analyzed. Cumulative sum analyses were performed to examine diagnostic sampling and procedure time over each operator's first 50 cases, with the acceptable yield threshold set to 73%.
RESULTS
During the study period, 442 patients underwent sampling of 551 lesions. Each operator sampled 61 (IQR, 60-63) lesions. Lesion size was 1.90 cm (IQR, 1.33-2.80). The median procedure time for single-target cases decreased from 62 minutes during the first 10 cases to 39 minutes after case 40 (P<0.001). The overall diagnostic yield was 72% (range, 58-83%). Six of 9 operators achieved proficiency over the study period. An aggregated cumulative sum analysis of those who achieved competency demonstrated a steep improvement between lesions 1 and 21 and crossing of the competency threshold by lesion 25. Temporal analysis of yield-related lesion characteristics demonstrated that at approximately lesion 20, more challenging lesions were increasingly targeted, as evidenced by smaller target size, higher rates of unfavorable radial endobronchial ultrasound views and a negative bronchus sign.
CONCLUSIONS
Skills acquisition in ssRAB is variable. Approximately half of proceduralists become facile with the technology within 25 lesions. After the initial learning phase, operators increasingly target lesions with more challenging features. Overall, these findings can inform certification and competency standards and provide new users with expectations related to performance over time.
PubMed: 38936600
DOI: 10.1016/j.jtcvs.2024.06.018 -
JMIR Bioinformatics and Biotechnology Jun 2024Health care is at a turning point. We are shifting from protocolized medicine to precision medicine, and digital health systems are facilitating this shift. By providing...
Health care is at a turning point. We are shifting from protocolized medicine to precision medicine, and digital health systems are facilitating this shift. By providing clinicians with detailed information for each patient and analytic support for decision-making at the point of care, digital health technologies are enabling a new era of precision medicine. Genomic data also provide clinicians with information that can improve the accuracy and timeliness of diagnosis, optimize prescribing, and target risk reduction strategies, all of which are key elements for precision medicine. However, genomic data are predominantly seen as diagnostic information and are not routinely integrated into the clinical workflows of electronic medical records. The use of genomic data holds significant potential for precision medicine; however, as genomic data are fundamentally different from the information collected during routine practice, special considerations are needed to use this information in a digital health setting. This paper outlines the potential of genomic data integration with electronic records, and how these data can enable precision medicine.
PubMed: 38935958
DOI: 10.2196/55632