Risultati per: BPCO e deficit di Alfa 1-antitripsina: quando sospettarlo

Introduction
Neurodevelopmental disorders, notably attention-deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD), present substantial challenges in mental health. Individuals referred for assessment in a psychiatric unit experience complex needs. This implies that their needs necessitate coordination across multiple sectors. Cross-sectoral collaboration models have emerged as essential strategies for addressing the complexities of these disorders. However, evidence of their existence, implementation and success remains limited. This protocol aims to outline a scoping review where we will explore existing collaboration models, evaluate their implementation and gain an understanding of how cross-sectoral collaboration models can be developed to ultimately benefit individuals referred for assessment of ADHD or ASD.

Methods and analysis
This proposed scoping review will follow the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews guidelines. A comprehensive search will be conducted across PubMed, CINAHL, Embase, PsycINFO and Google Scholar, as well as grey literature sources, between 1 December 2024 and 1 January 2025. Inclusion criteria will encompass studies focusing on cross-sectoral collaboration for individuals referred for assessment of ADHD or ASD, published in English, Danish, Norwegian or Swedish. The search will use a three-block search string, with iterative refinement guided by familiarity with the evidence base. Data extraction will involve study characteristics and implementation details, using the Consolidated Framework for Implementation Research in combination with Proctor et al’s implementation outcomes framework. Results will be synthesised into descriptive tables, providing a comprehensive mapping of existing models and emphasising implementation feasibility.

Ethics and dissemination
Ethical approval is not required for this protocol since it involves the review of existing literature without the involvement of human participants or personal data. Findings will be disseminated at national and international conferences and will be integrated into future efforts to develop cross-sectoral collaboration models in Denmark.

Objectives
To examine the association between maternal plasma cotinine concentrations during pregnancy and attention-deficit/hyperactivity disorder (ADHD) related characteristics in children.

Design
Prospective birth cohort study from the Hokkaido Study on Environment and Children’s Health.

Setting
Hokkaido, Japan.

Participants
A total of 7217 children were included in the analysis. Their mothers were recruited to this study between 2003 and 2012 during early pregnancy. Blood samples of mothers in their third trimester of pregnancy were obtained.

Main outcome measures
ADHD-related characteristics screened by the ADHD-Rating Scale (ADHD-RS) in children at 6 and 8 years of age.

Results
The mothers were classified into three groups according to plasma cotinine levels (median=0.22 ng/mL)—non-smokers (≤0.21 ng/mL), passive smokers (0.22–11.48 ng/mL) and active smokers (≥11.49 ng/mL). ADHD was suspected in 302 (8.6%), 334 (10.9%) and 90 (14.5%) children in the non-smoker, passive smoker and active smoker groups, respectively. Children born to mothers in the smoking group had a statistically significant increased risk of ADHD-related characteristics (adjusted RR=1.49, 95% CI=1.19–1.86 and adjusted RR=1.20, 95% CI=1.03–1.40 for the active and passive smoking groups, respectively).

Conclusion
This large Japanese cohort study suggests an association between smoking during pregnancy and the risk of ADHD in children 6 and 8 years of age.

Introduction
Attention deficit hyperactivity disorder (ADHD) is a common neurodevelopmental disorder among children and adolescents. The disorder negatively influences their academic performance and social relations, and their quality of life (QoL) is lower than that of peers without ADHD. The majority of children and adolescents with ADHD are treated with medication that potentially has an insufficient effect or frequently occurring adverse events. Physical activity is thought to alter the physiology of ADHD by affecting the same catecholaminergic system in the brain which is targeted by medication.

Methods and analysis
This protocol is written in accordance with the ‘Preferred Reporting Items for Systematic Review and Meta-Analysis Protocols’ guideline. Randomised clinical trials with participating children and adolescents between the ages of 3 and 18 years with a primary diagnosis of ADHD or hyperkinetic disorder will be included in the systematic review. The main objective of the review is to examine the effect of physical activity on QoL, executive functions, symptoms and functional impairment in this population. Previous systematic reviews on the effect of physical activity in children and adolescents with ADHD have several methodological and conceptual limitations. These reviews, for example, included both randomised and non-randomised clinical trials or had restrictions regarding the frequency and intensity of the physical activity interventions they included. The present review will include the newest studies in the field and follow the main principles outlined in the ‘Cochrane Handbook for Systematic Reviews of Interventions’. Furthermore, it will be the first review in the field to include QoL as an outcome and to apply trial sequential analysis as part of the meta-analysis.

Ethics and dissemination
As the systematic review is a secondary analysis of data from primary trials, approval from an ethics committee is not required. The results of the review will be published in a peer-reviewed scientific journal and presented at relevant conferences.

Trial registration number
This protocol was registered with the International Prospective Register of Systematic Reviews (PROSPERO) on 16 August 2024 (CRD42024576670).

Studio italiano, da domani il congresso di Pneumologia a Milano

Circulation, Volume 150, Issue Suppl_1, Page A4139743-A4139743, November 12, 2024. Background:Alfa-tubulin detyrosination is one of the post-translational modifications of tubulin c-terminal tail, observed in failing cardiomyocytes. Tubulin is known to regulate mitochondrial function, however, the effects of detyrosinated α-tubulin on mitochondrial function remains unrevealed.Methods and Results:We tested the effects of α-tubulin detyrosination on mitochondrial function with tubulin tyrosine ligase knocked out (TTL KO) H9C2 and Vasohibin 1 overexpressed (VASH1 OE) H9C2 cells, which had high amounts of detyrosinated α-tubulin. Alfa-tubulin detyrosination reduced mitochondrial respiration and mitochondrial membrane potential. Moreover, we found mitophagy, evaluated with Mito-Keima fluorescence and LC3 lipidation, were suppressed in TTL KO and VASH1 OE cells. Mitochondria in detyrosinated α-tubulin increasing cells contained less ubiquitinated proteins, suggesting that α-tubulin detyrosination might inhibit Parkin-mediated mitophagy. Next, we overexpressed VASH1 in the mouse heart with AAV9 to validate the effects of detyrosinated α-tubulin on cardiac function. Cardiomyocyte-restricted overexpression of VASH1 led to heart failure with preserved ejection fraction (HFpEF) evidenced by prolonged isovolumic relaxation time and increased mitral E/E’ ratio. Cardiac VASH1 OE mice also displayed a reduction in running distance during exercise exhaustion test. The VASH1 OE heart showed suppressed LC3 lipidation, suggesting decreased mitophagy.Conclusion:We demonstrated α-tubulin detyrosination reduces mitochondrial function through the inhibition of mitophagy, leading to HFpEF progression. Our study elucidates that α-tubulin detyrosination may act as a potential target for the novel therapy for HFpEF patients.

This phase 2 nonrandomized controlled trial evaluates the safety and response rates of bintrafusp alfa in patients with recurrent or metastatic cervical cancer.

Introduction
Autistic young people and/or those with attention deficit hyperactivity disorder (ADHD) who have co-occurring mental health conditions experience significant challenges when transitioning from child and adolescent mental health services (CAMHS) to adult mental health services (AMHS). However, barriers and facilitators to this service transition are poorly understood for this population. This scoping review aims to synthesise the available evidence on barriers and enablers to the transition from CAMHS to AMHS for autistic young people and/or those with ADHD.

Methods and analysis
Arksey and O’Malley’s six-step framework for scoping reviews will be used. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews checklist will guide the reporting of this review. Electronic databases of Medline, PsycINFO, CINAHL, Scopus, ProQuest Central and Google Scholar will be searched for relevant articles published in English with no date limitations. Title, abstract and full-text screening will be completed by two independent reviewers. Studies will be eligible for inclusion if the article focuses on (1) adolescents and/or young people (aged 18–24) with a primary diagnosis of autism spectrum disorder and/or ADHD (population) and (2) describes factors associated with service or care transitions (concept) (3) from CAMHS to AMHS (context). Study quality will be evaluated using the Standard Quality Assessment Criteria for Evaluating Primary Research Papers from a Variety of Fields. Data describing the factors that enable or inhibit the transition from CAMHS to AMHS will be extracted and synthesised using the Bronfenbrenner’s social ecological model as a framework for organising and reporting results.

Ethics and dissemination
Ethics approval is not required. Findings will be disseminated via peer-reviewed publications and presented at conferences.

Trial registration number
https://doi.org/10.17605/OSF.IO/BZPQF.

Objectives
This study aimed to explore the perspectives of people with attention deficit hyperactivity disorder (ADHD), their supporters and primary care professionals (PCPs), on the wider physical and mental health needs of people with ADHD and the support currently available.

Design
Qualitative semi-structured interviews, analysed using reflexive thematic analysis.

Setting
Five general practice surgeries across England.

Participants
Participants with lived experience (people with ADHD and their supporters (n=11)) and PCPs (n=9) (eg, general practitioners and practice managers), recruited via clinical academic networks and previous work packages of this study.

Results
We generated three major themes in relation to ADHD, using reflexive thematic analysis: understanding health, barriers to health and addressing health. Within these, participants reflected on mental and physical health challenges, as well as wider social difficulties and variability in support offered/accessed.

Conclusions
This study highlights that health problems in ADHD are complex and rooted both in individual factors (eg, mental health) and social factors (eg, support). This study also highlights the differences in expectations and fulfilment of healthcare.

Introduction
Attention deficit hyperactivity disorder (ADHD) is a neuropsychiatric condition prevalent in both children and adults. With growing awareness of the importance of the preconception period in health, it is essential to understand whether preconception parental mental health and related factors are related to onset of offspring ADHD. This protocol presents the methodology for undertaking a systematic review to investigate associations between parental mental health and/or psychotropic use during the preconception years and offspring ADHD.

Methods and analysis
Peer-reviewed literature will be identified by searching relevant electronic databases including Medline complete, Embase, PsycINFO and CINAHL; reference lists of eligible articles will be hand searched and grey literature considered. Eligible study designs include population-based and/or clinically based cohort or case–control studies. The primary exposure and outcome of interest is parental history of mental health conditions in the preconception period and offspring ADHD, respectively (ie, according to semistructured interviews/confirmed diagnosis by a relevant health professional or screening instruments). Critical appraisal will be undertaken. A descriptive synthesis will be presented including characteristics of the included studies, critical appraisal scores and a summary of main findings (eg, presented in tables, text and figures). A meta-analysis will be conducted, if possible, and statistical techniques will be employed if heterogeneity is detected.

Ethics and dissemination
Ethical permissions are not required for this systematic review since the study will only use published data. Findings from this systematic review will be published in a peer-reviewed scientific journal/presented at national and international conferences relevant to the field.

PROSPERO registration number
CRD42023460379.

New England Journal of Medicine, Volume 391, Issue 3, Page 235-246, July 18, 2024.

Con una carenza cresce il rischio di malattie cardiache e osteoporosi

Con carenza cresce rischio di malattie cardiache e osteoporosi

Annals of Internal Medicine, Ahead of Print.