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This multisite, single-group, prospective, observational study examines the feasibility and potential impact of genomic newborn screening using dried blood spots in a racially and ethnically diverse population from New York State.
Today’s genomic technology introduces a multitude of assays that could be deployed in health care: diagnostic testing of patients with suspected monogenic conditions, polygenic risk prediction for common diseases, pharmacogenomic analysis for drug-gene interactions, analysis of tumors for targetable somatic sequence variations, and noninvasive screening for prenatal chromosomal disorders or occult cancer. Alongside these approaches we must also grapple with screening of the ostensibly healthy population for monogenic diseases of newborns, children, and adults with either targeted or genome-scale sequencing.
Il 25 Airc celebra 60 anni d’impegno, 141 milioni alla ricerca
Autore/Fonte: USPSTF
Purpose
There is limited research on individuals undergoing self-initiated health examinations, and the Werlabs cohort will be a base for such research.
Participants
All individuals aged 18 or older who had undertaken a self-initiated health examination at Werlabs AB with at least one recorded value of creatinine or cholesterol in Sweden (from 1 January 2015 through 31 December 2023) was included. Medical history and anthropometric measurements were self-reported through an online questionnaire. We describe cohort baseline characteristics, demographic variables and cardiometabolic risk factors.
Findings to date
The study population includes 149 556 individuals who provided at least one health screening. The median (IQR) age was 43 (33–54) years and 54% were women. The most common self-reported chronic disease was hypertension (4.5%), followed by cardiovascular disease (0.9%) and 12.6% reported values of obesity. The prevalence was 2.1% for diabetes, 1.2% for kidney disease (including an estimated glomerular filtration rate of 3.0 mmol/L and 4.1% for anaemia (haemoglobin
Introduction
The annual prevalence of elder mistreatment (EM) in cognitively intact older adults is estimated to be 11%, yet the annual prevalence in older adults with Alzheimer’s disease and related dementias (AD/ADRD) is estimated to be as high as 75%. Associated with a decrease in quality of life and increase in risk of mortality, EM represents a significant public health burden. Home-based primary care (HBPC) providers are uniquely positioned to address the critical need for robust EM screening and reporting, especially among individuals with AD/ADRD. This protocol seeks to adapt the Detection of Elder mistreatment Through Emergency Care Technicians (DETECT) screening tool, previously used by emergency medical technicians, for use by HBPC providers.
Methods and analysis
The protocol consists of two main phases which include four substudies. Substudy 1 uses a qualitative approach to understand the current barriers to clinician identification and reporting of EM in HBPC, including what adaptations need to be made to DETECT for use in HBPC. Substudy 2 is a cluster randomised controlled trial evaluating the impact of Detection of Elder Abuse Through Emergency Care Technicians Screening Tool Revision for Home-Based Primary Care (DETECT-RPC) on clinician identification of older adult patients with increased risk of EM and referring their concerns to the appropriate authorities and service providers. Substudies 3 and 4 apply a mixed-methods approach to postscreening interviews with clinicians and caregiver/care recipient dyads, respectively. These substudies aim to evaluate DETECT-RPC’s impact on barriers to EM identification and reporting as well as the harms and benefits of using the screening tool from the perspective of patients and their caregivers.
Ethics and dissemination
All components of this study are conducted with the approval of the Institutional Review Board of the University of Texas Health Science Center at Houston (HSC-SPH-22-0732, HSC-SPH-23-0105, HSC-SPH-23-0965, HSC-SPH-24-0123). The results of this study will be disseminated through a peer-reviewed journal as well as through presentations at professional conferences, invited talks and other standard channels.
Trial registration number
NCT05958654 (ClinicalTrials.gov).
Annals of Internal Medicine, Volume 178, Issue 2, Page 177-186, February 2025.
Annals of Internal Medicine, Ahead of Print.
Iss,adesione 43% indagini su seno, 41% su cervice e 27% su colon
Introduction
Dementia is one of the most relevant widespread diseases, with a prevalence of currently 55 million people with dementia worldwide. However, about 60–75% of people with dementia have not yet received a formal diagnosis. Asymptomatic screening of cognitive impairments using neuropsychiatric tests has been proven to efficiently enhance diagnosis rates. Digital screening tools, in particular, provide the advantage of being accessible without spatial or time restrictions. The study aims to validate a digital cognitive screening test (digiDEM-SCREEN) as an app in the German language.
Methods and analysis
This is a multicentre study in Bavaria. Participants are people with mild cognitive impairment, people with dementia in an early stage and cognitively healthy people. Recruitment will take place in specialised diagnostic facilities (memory outpatient clinics). 135 participants are aimed based on a power analysis. Sociodemographic data, diagnosis and results of neuropsychiatric tests (Consortium to Establish a Registry for Alzheimer’s Disease, Montreal Cognitive Assessment, digiDEM-SCREEN) will be collected at one point per person via electronic data capturing. The sensitivity, specificity and corresponding cut-off values will be determined based on receiver-operating-characteristic curves. The correlation of the digiDEM-SCREEN test with existing cognitive screening/testing procedures will be analysed.
Ethics and dissemination
The study obtained ethical approval from the Ethics Committee of the Julius-Maximilians-Universität of Würzburg (JMU) (application number: 177/23-sc). The test will give feedback about the current cognitive status and possible cognitive impairments that should lead to the users seeking further diagnostic measures by medical professionals. It will be accessible free of charge in established app stores. The results of the validation study will be published in peer-reviewed journals.
Oncologi, la preservazione della fertilità tra le nuove problematiche
Un terzo dei pazienti finisce in una casa di cura entro 3 anni
A randomized trial showed that sepsis alerts, based on the qSOFA score, lowered 90-day inpatient mortality.
Introduction
MODY2 (maturity-onset diabetes of the young type 2, MIM125851) is a monogenic diabetes with an autosomal dominant transmission caused by a variant of the GCK gene. MODY2 is often confused with type 1 or type 2 diabetes, but despite a slightly elevated blood glucose level, it does not induce long-term vascular complications, nor does it require pharmacological treatment. Genetic testing for the diagnosis of MODY2 is currently reserved for genetic specialists and some physicians. Still, access to it by primary care healthcare professionals (HCPs), coupled with appropriate training, would improve the diagnosis and management of patients with MODY2. Thus, to evaluate the implementation in primary care of genetic testing for the screening of MODY2 (iMOgene study), an implementation pilot study has been designed supported by the RE-AIM (Reach, Effectiveness, Adoption, Implementation, Maintenance) framework.
Method and analysis
Two primary care clinics will be involved in the region of Saguenay-Lac-Saint-Jean (Québec, Canada). An asynchronous online training on MODY2 and genetic testing, including pre/post questionnaires, will be provided to the HCPs. Satisfaction, adoption and maintenance indicators will be collected throughout the project for each clinic. Questionnaires for patients and professionals and focus groups with HCPs will be conducted to assess implementation. This study will document the implementation process of genetic testing in primary care by identifying facilitating and limiting factors to establish specifications for scaling up.
Ethics and dissemination
The present protocol has been approved by the research ethic committee of the ‘Centre intégré universitaire de santé et de services sociaux of Saguenay-Lac-Saint-Jean’ (CIUSSS-SLSJ) on 9 January 2024 and by the ‘Comité central d’éthique de la recherche’ (CCER) of the ‘Ministère de la Santé et des Services Sociaux’ of Quebec (Canada) on 30 January 2024. The informed consent of participants will be obtained orally. Dissemination of the study results will involve peer-review publications, presentations at major national and international scientific conferences.
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