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Nevin Manimala Statistics

Risk-conferring HLA variants in an epilepsy cohort: benefits of multifaceted use of whole genome sequencing in clinical practice

J Neurol Neurosurg Psychiatry. 2023 Jun 26:jnnp-2023-331419. doi: 10.1136/jnnp-2023-331419. Online ahead of print.

ABSTRACT

BACKGROUND: Whole genome sequencing is increasingly used in healthcare, particularly for diagnostics. However, its clinically multifaceted potential for individually customised diagnostic and therapeutic care remains largely unexploited. We used existing whole genome sequencing data to screen for pharmacogenomic risk factors related to antiseizure medication-induced cutaneous adverse drug reactions (cADRs), such as human leucocyte antigen HLA-B*15:02, HLA-A*31:01 variants.

METHODS: Genotyping results, generated from the Genomics England UK 100 000 Genomes Project primarily for identification of disease-causing variants, were used to additionally screen for relevant HLA variants and other pharmacogenomic variants. Medical records were retrospectively reviewed for clinical and cADR phenotypes for HLA variant carriers. Descriptive statistics and the χ2 test were used to analyse phenotype/genotype data for HLA carriers and compare frequencies of additional pharmacogenomic variants between HLA carriers with and without cADRs, respectively.

RESULTS: 1043 people with epilepsy were included. Four HLA-B*15:02 and 86 HLA-A*31:01 carriers were identified. One out of the four identified HLA-B*15:02 carriers had suffered antiseizure medication-induced cADRs; the point prevalence of cADRs was 16.9% for HLA-A*31:01 carriers of European origin (n=46) and 14.4% for HLA-A*31:01 carriers irrespective of ancestry (n=83).

CONCLUSIONS: Comprehensive utilisation of genetic data spreads beyond the search for causal variants alone and can be extended to additional clinical benefits such as identifying pharmacogenomic biomarkers, which can guide pharmacotherapy for genetically-susceptible individuals.

PMID:37364985 | DOI:10.1136/jnnp-2023-331419

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Nevin Manimala Statistics

Analysis of the psychological causes of early substance use among adolescents in school and university settings

Rev Infirm. 2023 Jun-Jul;72(292):37-39. doi: 10.1016/j.revinf.2023.05.010. Epub 2023 Jun 12.

ABSTRACT

Experimentation with psychoactive substances (PAS), such as alcohol, tobacco or cannabis, is common in adolescence, and continues to pose a public health issue that can lead to failure at school and university. Most of the work on these issues focuses on addiction-related aspects, and little on the underlying causes of addiction. This article sheds psycho-social theoretical light on the causes of first-time use of APS, and cannabis in particular. It is particularly aimed at school nurses and university preventive medicine nurses.

PMID:37364976 | DOI:10.1016/j.revinf.2023.05.010

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Nevin Manimala Statistics

Soothing in units for difficult patients and in psychiatric intensive care units

Rev Infirm. 2023 Jun-Jul;72(292):32-33. doi: 10.1016/j.revinf.2023.05.008. Epub 2023 Jun 12.

ABSTRACT

In the units for difficult patients (UMD) and the intensive psychiatric care units (Usip), patients whose mental pathologies have or could generate violent acts which can go as far as committing homicide are taken care of. If, during the psychiatric care of these patients, isolation and restraint measures can be put in place as a last resort, in general it is the symptomatological and behavioral appeasement of these persons that is sought in an alternative way.

PMID:37364974 | DOI:10.1016/j.revinf.2023.05.008

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Nevin Manimala Statistics

Isolation and restraint in units for difficult patients and in psychiatric intensive care units

Rev Infirm. 2023 Jun-Jul;72(292):23-25. doi: 10.1016/j.revinf.2023.05.005. Epub 2023 Jun 12.

ABSTRACT

The units for difficult patients (UMD) and the intensive psychiatric care units (Usip) are psychiatric services that are not successively sectorized, created to meet the needs of intensive care in a closed environment and sometimes of a forensic nature. These two systems are used to care for patients whose clinical condition often makes it too complex to maintain them in sector psychiatric units, and many of their operating rules differ. This is not the case for seclusion and restraint measures and the application of the law governing these measures.

PMID:37364971 | DOI:10.1016/j.revinf.2023.05.005

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Nevin Manimala Statistics

Isolement, contention et apaisement en psychiatrie

Rev Infirm. 2023 Jun-Jul;72(292):15. doi: 10.1016/j.revinf.2023.05.002. Epub 2023 Jun 13.

NO ABSTRACT

PMID:37364968 | DOI:10.1016/j.revinf.2023.05.002

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Nevin Manimala Statistics

Predictors of longitudinal changes in body weight, muscle and fat in patients with and ever-smokers at risk of COPD

Respirology. 2023 Jun 26. doi: 10.1111/resp.14537. Online ahead of print.

ABSTRACT

BACKGROUND AND OBJECTIVE: Weight and muscle loss are predictors of poor outcomes in chronic obstructive pulmonary disease. However, to our knowledge, no study has investigated the predictors of longitudinal weight loss or its composition from functional and morphological perspectives.

METHODS: This longitudinal observational study with a median follow-up period of 5 years (range: 3.0-5.8 years) included patients with COPD and ever-smokers at risk of COPD. Using chest computed tomography (CT) images, airway and emphysematous lesions were assessed as the square root of the wall area of a hypothetical airway with an internal perimeter of 10 mm (√Aaw at Pi10) and the percentage of low attenuation volume (LAV%). Muscle mass was estimated using cross-sectional areas (CSAs) of the pectoralis and erector spinae muscles, and fat mass was estimated using the subcutaneous fat thickness at the level of the 8th rib measured using chest CT images. Statistical analyses were performed using the linear mixed-effects models.

RESULTS: In total, 114 patients were enrolled. Their body mass index remained stable during the study period while body weight and muscle CSA decreased over time and the subcutaneous fat thickness increased. Reduced forced expiratory volume in 1 s and peak expiratory flow (PEF) at baseline predicted the future decline in muscle CSA.

CONCLUSION: Severe airflow limitation predicted future muscle wasting in patients with COPD and ever-smokers at risk of COPD. Airflow limitation with a PEF slightly below 90% of the predicted value may require intervention to prevent future muscle loss.

PMID:37364930 | DOI:10.1111/resp.14537

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Nevin Manimala Statistics

Community-based physical activity promotion confers broad-spectrum benefits for military veterans with chronic and complex conditions: evidence from 4 years of rehabilitation consultant referrals

BMJ Mil Health. 2023 Jun 25:e002375. doi: 10.1136/military-2023-002375. Online ahead of print.

ABSTRACT

INTRODUCTION: Veterans experience a high incidence of chronic and complex health conditions requiring a holistic approach to health and well-being. The Adapted Physical Activity Program (APAP) is a theory-based programme developed to support the physical activity (PA) participation of community-dwelling people with disabilities. Although available to all people with disabilities, of the 214 clients referred between 2015 and 2019, two hundred and three were veterans. This study aimed to understand this unexpected predominance by describing the characteristics of the veterans referred to APAP, including client goals, as well as describing the characteristics of the rehabilitation consultants who made the referrals.

METHODS: Descriptive statistics were used to describe specific characteristics of the veterans and the rehabilitation consultants. Content analysis was used to analyse client goals.

RESULTS: Client data highlighted the complexity of this clinical population. All clients had been diagnosed with more than one health condition, with most experiencing both a physical injury and a mental health diagnosis. Content analysis revealed six overarching client goals, including supporting sustainable PA participation, mental health and well-being, participation in meaningful activities, community and social engagement, management of condition and physical health and fitness. Data from the referring organisations showed that each organisation had multiple health professionals that made repeated referrals to APAP. The most common health profession to make a referral to APAP was occupational therapy.

CONCLUSION: Veterans have a high incidence of chronic and complex health conditions including physical injury and mental illness. Programmes and services that look beyond addressing the diagnosis and treatment of specific conditions to supporting the overall health and well-being of the individual are required. Person-centred, community-based PA programmes such as APAP might offer this solution. Further research is required to assess the efficacy of such programmes with this population.

PMID:37364900 | DOI:10.1136/military-2023-002375

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Nevin Manimala Statistics

Neurodevelopment and healthcare utilisation at age 5-6 years in bronchopulmonary dysplasia: an EPIPAGE-2 cohort study

Arch Dis Child Fetal Neonatal Ed. 2023 Jun 23:fetalneonatal-2023-325376. doi: 10.1136/archdischild-2023-325376. Online ahead of print.

ABSTRACT

OBJECTIVE: We aimed to study neurodevelopmental outcomes and healthcare utilisation at age 5-6 years in very preterm children with bronchopulmonary dysplasia (BPD).

DESIGN: Prospective and national population-based study.

SETTING: All the neonatal units in 25 French regions (21 of the 22 metropolitan regions and 4 overseas regions).

PATIENTS: Children born before 32 weeks’ gestation in 2011.

INTERVENTIONS: Blind, comprehensive and standardised assessment by trained neuropsychologists and paediatricians at age 5-6 years.

MAIN OUTCOME MEASURES: Overall neurodevelopmental disabilities, behavioural difficulties, developmental coordination disorders, full-scale IQ, cerebral palsy, social interaction disorders, rehospitalisation in the previous 12 months and detailed developmental support.

RESULTS: Of the 3186 children included, 413 (11.7%) had BPD. The median gestational age of children with BPD was 27 weeks (IQR 26.0-28.0) and without BPD was 30 weeks (28.0-31.0). At age 5-6 years, 3150 children were alive; 1914 (60.8%) had a complete assessment. BPD was strongly associated with mild, moderate and severe overall neurodevelopmental disabilities (OR 1.49, 95% CI 1.05 to 2.20; 2.20, 1.41 to 3.42 and 2.71, 1.67 to 4.40). BPD was associated with developmental coordination disorders, behavioural difficulties, lower IQ score as well as rehospitalisation in the last 12 months and developmental support. The association between BPD and cerebral palsy was statistically significant before adjustment but not in adjusted analyses.

CONCLUSIONS: BPD was strongly and independently associated with many neurodevelopmental disabilities. Improving medical and neurodevelopmental management of BPD in very preterm children should be a priority to reduce its long-term consequences.

PMID:37364896 | DOI:10.1136/archdischild-2023-325376

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Nevin Manimala Statistics

Clinical efficacy of thermal ablation for the treatment of pulmonary carcinoid tumor: a propensity-matched analysis

Int J Hyperthermia. 2023;40(1):2225817. doi: 10.1080/02656736.2023.2225817.

ABSTRACT

OBJECTIVE: To investigate the clinical efficacy of thermal ablation in the treatment of pulmonary carcinoid (PC) tumor.

METHODS: Data of patients with inoperable PC diagnosed from 2000 to 2019 were obtained from the SEER database and analyzed according to different therapeutic modality: thermal ablation vs non-ablation. Propensity score matching (PSM) was used to reduce intergroup differences. Kaplan-Meier curves and the log-rank test were used to compare intergroup differences of overall survival (OS) and lung cancer-specific survival (LCSS). Cox proportional risk models were used to reveal prognostic factors.

RESULTS: After PSM, the thermal ablation group had better OS (p < .001) and LCSS (p < .001) than the non-ablation group. Subgroup analysis stratified by age, sex, histologic type and lymph node status subgroups showed similar survival profile. In the subgroup analysis stratified by tumor size, the thermal ablation group showed better OS and LCSS than those of the non-ablation group for tumors ≤3.0 cm, not statistically significant for tumors >3.0 cm. Subgroup analysis by M stage showed that thermal ablation was superior to non-ablation in OS and LCSS for patients with M0 stage, but no significant difference was found in subgroups with distant metastatic disease. Multivariate analysis showed that thermal ablation was an independent prognostic factor for OS (HR: 0.34, 95% CI: 0.25-0.46, p < .001) and LCSS (HR: 0.23, 95%CI: 0.12-0.43, p < .001).

CONCLUSION: For patients with inoperable PC, thermal ablation might be a potential treatment option, especially in M0-stage with tumor size ≤3 cm.

PMID:37364893 | DOI:10.1080/02656736.2023.2225817

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Nevin Manimala Statistics

Conscientious, competent and caring: producing the junior doctor of the future

Br J Hosp Med (Lond). 2023 Jun 2;84(6):1-9. doi: 10.12968/hmed.2022.0481. Epub 2023 Jun 5.

ABSTRACT

This article is based on the Association for the Study of Medical Education Gold Medal Plenary for 2022, given by the first author. It outlines different ways in which medical training can be approached, based on his career and his work with colleagues. Among the attributes that it would be desirable to promote in future doctors are conscientiousness, competence and care for patients as individuals. This article explores each of these in separate sections. The first demonstrates that the trait of conscientiousness can be observed in first and second year medical students by their compliance in routine low level tasks such as attendance and submission of required work on time. A ‘conscientiousness index’ calculated on this basis is a statistically significant predictor of later events such as performance in exams, the prescribing safety assessment, and the UK situational judgement test in subsequent years, and also in postgraduate assessments such as Royal college exams and the annual reviews of competence progression. The second proposes that competence in tasks undertaken by junior doctors is better achieved by teaching on medical imaging, clinical skills and living anatomy than by cadaveric dissection. The final section argues that the incorporation of arts and humanities teaching into medical education is likely to lead to better understanding of the patient perspective in later practice.

PMID:37364882 | DOI:10.12968/hmed.2022.0481