RESUMO
We previously selected and defined nine important post-operative morbidities linked to paediatric cardiac surgery, and prospectively measured their incidence following 3090 consecutive operations. Our aim was to study the impact of these morbidities on family functioning and parental quality of life over 6 months in a subset of cases. As part of a prospective case matched study in five of the ten children's cardiac centers in the UK, we compared outcomes for parents of children who had a 'single morbidity', 'multiple morbidities', 'extracorporeal life support (ECLS)' or 'no morbidity'. Outcomes were evaluated using the PedsQL Family impact module (FIM) at 6 weeks and 6 months post-surgery. Outcomes were modelled using mixed effects regression, with adjustment for case mix and clustering within centers. We recruited 340 patients with morbidity (60% of eligible patients) and 326 with no morbidity over 21 months. In comparison to the reference group of 'no morbidity', after adjustment for case mix, at 6 weeks parent health-related quality of life (HRQoL) and total FIM sores were lower (worse) only for ECLS (p < 0.005), although a higher proportion of parents in both the ECLS and multi-morbidity groups had low/very low scores (p < .05). At 6 months, parent outcomes had improved for all groups but parent HRQoL and total score for ECLS remained lower than the 'no morbidity' group (p < .05) and a higher proportion of families had low or very low scores in the ECLS (70%) group (p < .01). Post-operative morbidities impact parent HRQoL and aspects of family functioning early after surgery, with this impact lessening by 6 months. Families of children who experience post-operative morbidities should be offered timely psychological support.
Assuntos
Procedimentos Cirúrgicos Cardíacos , Qualidade de Vida , Criança , Humanos , Qualidade de Vida/psicologia , Procedimentos Cirúrgicos Cardíacos/efeitos adversos , Morbidade , Pais/psicologia , Incidência , Inquéritos e QuestionáriosRESUMO
A range of flavoring molecules are used in electronic cigarette liquids (e-liquids), some of which have been shown to form cyclic acetal adducts with e-liquid solvent components propylene glycol (PG) and vegetable glycerine (VG). The objective of this study was to identify the range of flavoring molecules which form adducts in e-liquid products. Common e-liquid flavoring molecules (N = 36) from a range of chemical class groups were exposed to PG, VG, or methanol and analyzed by GC-MS over a time frame of 4 weeks to identify possible reaction products. Adduct formation was observed, with 14 of the flavoring molecules reacting with methanol, 10 reacting with PG, and 10 reacting with VG. Furfural PG and VG acetals, valeraldehyde PG and VG acetals, veretraldehyde PG and VG acetals, p-anisaldehyde PG and VG acetals, and piperonal VG acetal were confirmed for the first time. Adducts formed by reaction with ketone-containing flavoring molecules were also observed for the first time. The presence of these acetals was confirmed in 32% of commercial e-liquid products analyzed (N = 142). This study has established a range of flavoring molecules which are able to react with solvent components PG and VG in e-liquids under standard storage conditions. These newly identified adducts need to be further assessed to determine their toxicological safety.
Assuntos
Sistemas Eletrônicos de Liberação de Nicotina , Nicotina/química , Acetais , Metanol , Solventes , Propilenoglicol/química , Glicerol/química , Aromatizantes/química , Verduras/químicaRESUMO
OBJECTIVES: To explore whether postoperative morbidities after pediatric cardiac surgery affected children's health-related quality of life (HRQOL) at 6 months, through potentially modifiable parental psychological factors. DESIGN: We undertook a mediation analysis, to explore the causal pathway, based on data from a prospective, case-matched cohort study. PATIENTS: Six hundred sixty-six children undergoing cardiac surgery. SETTING: Five centers in the United Kingdom. INTERVENTIONS: No intervention. MEASUREMENTS AND MAIN RESULTS: Cases of morbidity were identified early after pediatric cardiac surgery, and matched controls with no morbidities were identified at discharge. Four mediators were assessed at 6 weeks after surgery, using the PedsQL Family Impact Module (Parent HRQOL and Family Function) and the PHQ-4 (Anxiety and Depression). The study outcome of child HRQOL was assessed at 6 months with the PedsQL. Of 666 children, 408 (65% of those surviving) contributed to the primary outcome. Children who had extracorporeal life support (ECLS) ( n = 11) ( p < 0.05) and multiple morbidities ( n = 62) ( p < 0.01) had worse 6-month HRQOL than those with a single morbidity ( n = 125) or no morbidity ( n = 209). After adjustment for case mix complexity and sociodemographic variables, there were significant indirect effects of parent HRQOL at 6 weeks, on the PedsQL Total Score (ECLS, -5.1 [-8.4 to -1.8]; p = 0.003; multiple morbidities, -2.1 [-3.7 to -0.5]; p = 0.01), PedsQL Physical Score (ECLS, -5.1 [-8.7 to -1.4]; p = 0.007; multiple morbidities, -2.1 [-3.8 to -0.4]; p = 0.016), and PedsQL Psychosocial Score (ECLS: -5.3 [-8.7 to -1.8); p = 0.003; multiple morbidities, -2.2 [-3.9 to -0.5]; p = 0.01). The proportion of the total effect of ECLS and multiple morbidity on the study outcomes mediated through parent HRQOL ranges between 18% and 61%. There was no evidence that the other three mediators had indirect effects on the study outcome. CONCLUSIONS: Parental HRQOL at 6 weeks after surgery contributes to child HRQOL at 6 months, among those with the severest types of morbidity, and as such should be a target for future interventions.
Assuntos
Análise de Mediação , Qualidade de Vida , Criança , Humanos , Qualidade de Vida/psicologia , Estudos de Coortes , Estudos Prospectivos , Pais/psicologia , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologia , Inquéritos e QuestionáriosRESUMO
BACKGROUND: The Warwick consensus defined femoroacetabular impingement syndrome as a motion-related clinical disorder of the hip with a triad of symptoms, clinical signs, and imaging findings representing symptomatic premature contact between the proximal femur and acetabulum. Several factors appear to cause labral and cartilage damage, including joint shape and orientation and patient activities. There is a lack of tools to predict impingement patterns in a patient across activities. Current computational modeling tools either measure pure ROM of the joint or include complexity that reduces reliability and increases time to achieve a solution. QUESTIONS/PURPOSES: The purpose of this study was to examine the efficacy of a low computational cost approach to combining cam-type hip shape and multiple hip motions for predicting impingement. Specifically, we sought to determine (1) the potential to distinguish impingement in individual hip shapes by analyzing the difference between a cam lesion at the anterior femoral neck and one located at the superior femoral neck; (2) sensitivity to three aspects of hip alignment, namely femoral neck-shaft angle, femoral version angle, and pelvic tilt; and (3) the difference in impingement measures between the individual activities in our hip motion dataset. METHODS: A model of the shape and alignment of a cam-type impinging hip was created and used to describe two locations of a cam lesion on the femoral head-neck junction (superior and anterior) based on joint shape information available in prior studies. Sensitivity to hip alignment was assessed by varying three aspects from a baseline (typical alignment described in prior studies), namely, femoral neck-shaft angle, femoral version, and pelvic tilt. Hip movements were selected from an existing database of 18 volunteers performing 13 activities (10 male, eight female; mean age 44 ± 19 years). A subset was selected to maximize variation in the range of joint angles and maintain a consistent number of people performing each activity, which resulted in nine people per activity, including at least three of each sex. Activities included pivoting during walking, squatting, and golf swing. All selected hip motion cases were applied to each hip shape model. For the first part of the study, the number of motion cases in which impingement was predicted was recorded. Quantitative analyses of the depth of penetration of the cam lesion into the acetabular socket and qualitative observations of impingement location were made for each lesion location (anterior and superior). In the second part of the study, in which we aimed to test the sensitivity of the findings to hip joint orientation, full analysis of both cam lesion locations was repeated for three modified joint orientations. Finally, the results from the first part of the analysis were divided by activity to understand how the composition of the activity dataset affected the results. RESULTS: The two locations of cam lesion generated impingement in a different percentage of motion cases (anterior cam: 56% of motion cases; superior cam: 13% of motion cases) and different areas of impingement in the acetabulum, but there were qualitatively similar penetration depths (anterior cam: 6.8° ± 5.4°; superior cam: 7.9° ± 5.8°). The most substantial effects of changing the joint orientation were a lower femoral version angle for the anterior cam, which increased the percentage of motion cases generating impingement to 67%, and lower neck-shaft angle for the superior cam, which increased the percentage of motion cases generating impingement to 37%. Flexion-dominated activities (for example, squatting) only generated impingement with the anterior cam. The superior cam generated impingement during activities with high internal-external rotation of the joint (for example, the golf swing). CONCLUSION: This work demonstrated the capability of a simple, rapid computational tool to assess impingement of a specific cam-type hip shape (under 5 minutes for more than 100 motion cases). To our knowledge, this study is the first to do so for a large set of motion cases representing a range of activities affecting the hip, and could be used in planning surgical bone removal. CLINICAL RELEVANCE: The results of this study imply that patients with femoroacetabular impingement syndrome with cam lesions on the superior femoral head-neck junction may experience impinging during motions that are not strongly represented by current physical diagnostic tests. The use of this tool for surgical planning will require streamlined patient-specific hip shape extraction from imaging, model sensitivity testing, evaluation of the hip activity database, and validation of impingement predictions at an individual patient level.
Assuntos
Impacto Femoroacetabular , Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Impacto Femoroacetabular/cirurgia , Reprodutibilidade dos Testes , Tomografia Computadorizada por Raios X , Articulação do Quadril/diagnóstico por imagem , Articulação do Quadril/patologia , Acetábulo/diagnóstico por imagem , Acetábulo/patologia , Amplitude de Movimento ArticularRESUMO
DiGeorge syndrome (DGS) is a primary immunodeficiency characterized by various degrees of T-cell deficiency. In partial DGS (pDGS), other risk factors could predispose to recurrent infections, autoimmunity, and allergy. The aim of this study was to assess the effect of different factors in the development of infections, autoimmunity, and/or allergy in patients with pDGS. We studied 467 pDGS patients in follow-up at Great Ormond Street Hospital. Using a multivariate approach, we observed that palatal anomalies represent a risk factor for the development of recurrent otitis media with effusion. Gastroesophageal reflux/dysphagia and asthma/rhinitis represent a risk factor for the development of recurrent upper respiratory tract infections. Allergy and autoimmunity were associated with persistently low immunoglobulin M levels and lymphopenia, respectively. Patients with autoimmunity showed lower levels of CD3+, CD3+CD4+, and naïve CD4+CD45RA+CD27+ T lymphocytes compared with pDGS patients without autoimmunity. We also observed that the physiological age-related decline of the T-cell number was slower in pDGS patients compared with age-matched controls. The age-related recovery of the T-cell number depended on a homeostatic peripheral proliferation of T cells, as suggested by an accelerated decline of the naïve T lymphocytes in pDGS as well as a more skewed T-cell repertoire in older pDGS patients. These evidences suggest that premature CD4+ T-cell aging and lymphopenia induced spontaneous peripheral T-cell proliferation might contribute to the pathogenesis of autoimmunity in patients with pDGS. Infections in these patients represent, in most of the cases, a complication of anatomical or gastroenterological anomalies rather than a feature of the underlying immunodeficiency.
Assuntos
Autoimunidade/imunologia , Síndrome de DiGeorge/imunologia , Síndrome de DiGeorge/patologia , Adolescente , Adulto , Autoimunidade/genética , Criança , Pré-Escolar , Síndrome de DiGeorge/complicações , Feminino , Humanos , Lactente , Masculino , Adulto JovemRESUMO
The Australian Government recently walked away from changes to the importation of nicotine-containing electronic cigarette fluids, originally due to come into force on 1 January 2021. Additionally, the Therapeutic Goods Administration is in the process of rescheduling nicotine for use in e-fluids. We are concerned that the 270 000 daily vapers in Australia will purchase high concentrations of nicotine (≥100 mg/mL) for mixing with nicotine-free locally purchased e-fluids, which is a pathway of increased relative harm. We would like to see regulation of these products to limit the maximum concentration of nicotine, ensure appropriate child-resistant containers and compulsory labelling for all nicotine-containing e-fluid bottles.
Assuntos
Sistemas Eletrônicos de Liberação de Nicotina , Vaping , Austrália , Humanos , Nicotina , FumantesRESUMO
Ambient air pollution is a leading risk factor for the global burden of disease. One possible pathway of particulate matter (PM)-induced toxicity is through iron (Fe), the most abundant metal in the atmosphere. The aim of the review was to consider the complexity of Fe-mediated toxicity following inhalation exposure focusing on the chemical and surface reactivity of Fe as a transition metal and possible pathways of toxicity via reactive oxygen species (ROS) generation as well as considerations of size, morphology, and source of PM. A broad term search of 4 databases identified 2189 journal articles and reports examining exposure to Fe via inhalation in the past 10 years. These were sequentially analyzed by title, abstract and full-text to identify 87 articles publishing results on the toxicity of Fe-containing PM by inhalation or instillation to the respiratory system. The remaining 87 papers were examined to summarize research dealing with in vitro, in vivo and epidemiological studies involving PM containing Fe or iron oxide following inhalation or instillation. The major findings from these investigations are summarized and tabulated. Epidemiological studies showed that exposure to Fe oxide is correlated with an increased incidence of cancer, cardiovascular diseases, and several respiratory diseases. Iron PM was found to induce inflammatory effects in vitro and in vivo and to translocate to remote locations including the brain following inhalation. A potential pathway for the PM-containing Fe-mediated toxicity by inhalation is via the generation of ROS which leads to lipid peroxidation and DNA and protein oxidation. Our recommendations include an expansion of epidemiological, in vivo and in vitro studies, integrating research improvements outlined in this review, such as the method of particle preparation, cell line type, and animal model, to enhance our understanding of the complex biological interactions of these particles.
Assuntos
Poluentes Atmosféricos/toxicidade , Exposição por Inalação/efeitos adversos , Ferro/toxicidade , Material Particulado/toxicidade , Animais , Humanos , Espécies Reativas de OxigênioRESUMO
In the original version of this article unfortunately two authors were missing: Dr. Jürgen Weidemann and Dr. Daniel Berthold. The correct list of authors is presented above.
RESUMO
Studies of chest computed tomography (CT) in patients with primary antibody deficiency syndromes (ADS) suggest a broad range of bronchial pathology. However, there are as yet no multicentre studies to assess the variety of bronchial pathology in this patient group. One of the underlying reasons is the lack of a consensus methodology, a prerequisite to jointly document chest CT findings. We aimed to establish an international platform for the evaluation of bronchial pathology as assessed by chest CT and to describe the range of bronchial pathologies in patients with antibody deficiency. Ffteen immunodeficiency centres from 9 countries evaluated chest CT scans of patients with ADS using a predefined list of potential findings including an extent score for bronchiectasis. Data of 282 patients with ADS were collected. Patients with common variable immunodeficiency disorders (CVID) comprised the largest subgroup (232 patients, 82.3%). Eighty percent of CVID patients had radiological evidence of bronchial pathology including bronchiectasis in 61%, bronchial wall thickening in 44% and mucus plugging in 29%. Bronchiectasis was detected in 44% of CVID patients aged less than 20 years. Cough was a better predictor for bronchiectasis than spirometry values. Delay of diagnosis as well as duration of disease correlated positively with presence of bronchiectasis. The use of consensus diagnostic criteria and a pre-defined list of bronchial pathologies allows for comparison of chest CT data in multicentre studies. Our data suggest a high prevalence of bronchial pathology in CVID due to late diagnosis or duration of disease.
Assuntos
Brônquios/patologia , Síndromes de Imunodeficiência/patologia , Parede Torácica/patologia , Adolescente , Adulto , Idoso , Bronquiectasia/patologia , Criança , Pré-Escolar , Imunodeficiência de Variável Comum/patologia , Feminino , Humanos , Lactente , Masculino , Espirometria/métodos , Tomografia Computadorizada por Raios X/métodos , Adulto JovemRESUMO
Access to cannabis and cannabinoid products is increasing worldwide for recreational and medicinal use. Two primary compounds within cannabis plant matter, Δ9-tetrahydrocannabinol (THC) and cannabidiol (CBD), are both psychoactive, but only THC is considered intoxicating. There is significant interest in potential therapeutic properties of these cannabinoids and of CBD in particular. Some research has suggested that CBD may ameliorate adverse effects of THC, but this may be dose dependent as other evidence suggests possible potentiating effects of THC by low doses of CBD. We conducted a randomised placebo controlled trial to examine the acute effects of these compounds alone and in combination when administered by vaporisation to frequent and infrequent cannabis users. Participants (n = 36; 31 male) completed 5 drug conditions spaced one week apart, with the following planned contrasts: placebo vs CBD alone (400 mg); THC alone (8 mg) vs THC combined with low (4 mg) or high (400 mg) doses of CBD. Objective (blind observer ratings) and subjective (self-rated) measures of intoxication were the primary outcomes, with additional indices of intoxication examined. CBD showed some intoxicating properties relative to placebo. Low doses of CBD when combined with THC enhanced, while high doses of CBD reduced the intoxicating effects of THC. The enhancement of intoxication by low-dose CBD was particularly prominent in infrequent cannabis users and was consistent across objective and subjective measures. Most effects were significant at p < .0001. These findings are important to consider in terms of recommended proportions of THC and CBD in cannabis plant matter whether used medicinally or recreationally and have implications for novice or less experienced cannabis users.Trial registration: ISRCTN Registry Identifier: ISRCTN24109245.
Assuntos
Canabidiol/farmacologia , Moduladores de Receptores de Canabinoides/farmacologia , Cannabis , Transtornos Dissociativos/induzido quimicamente , Dronabinol/farmacologia , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos , Transtornos da Percepção/induzido quimicamente , Adolescente , Adulto , Pressão Sanguínea/efeitos dos fármacos , Canabidiol/administração & dosagem , Canabidiol/efeitos adversos , Moduladores de Receptores de Canabinoides/administração & dosagem , Moduladores de Receptores de Canabinoides/efeitos adversos , Dronabinol/administração & dosagem , Interações Medicamentosas , Feminino , Frequência Cardíaca/efeitos dos fármacos , Humanos , Masculino , Pessoa de Meia-Idade , Autorrelato , Adulto JovemRESUMO
BACKGROUND: Hospital-treated deliberate self-harm (DSH) is common, costly and has high repetition rates. Since brief contact interventions (BCIs) may reduce the risk of DSH repetition, we aim to evaluate whether a SMS (Short Message Service) text message Intervention plus Treatment As Usual (TAU) compared to TAU alone will reduce hospital DSH re-presentation rates in Western Sydney public hospitals in Australia. METHODS/DESIGN: Our study is a 24-month randomized controlled trial (RCT). Adult patients who present with DSH to hospital emergency, psychiatric, and mental health triage and assessment departments will be randomly assigned to an Intervention condition plus TAU receiving nine SMS text messages at 1, 2, 3, 4, 5, 6, 8, 10 and 12-months post-discharge. Each message will contain telephone numbers for two mental health crises support tele-services. Primary outcomes will be the difference in the number of DSH re-presentations, and the time to first re-presentation, within 12-months of discharge. DISCUSSION: This study protocol describes the design and implementation of an RCT using SMS text messages, which aim to reduce hospital re-presentation rates for DSH. Positive study findings would support the translation of an SMS-aftercare protocol into mental health services at minimal expense. TRIAL REGISTRATION AND ETHICS APPROVAL: This trial has been registered with the Australian and New Zealand Clinical Trials Registry (Trial registration: ACTRN12617000607370 . Registered 28 April 2017) and has been approved by two Local Health Districts (LHDs). Western Sydney LHD Human Research Ethics Committee approved the study for Westmead Hospital and Blacktown Hospital (Protocol: HREC/16/WMEAD/336). Nepean Blue Mountains LHD Research Governance Office approved the study for Nepean Hospital (SSA/16/Nepean/170).
Assuntos
Comportamento Autodestrutivo/prevenção & controle , Comportamento Autodestrutivo/psicologia , Tentativa de Suicídio/prevenção & controle , Tentativa de Suicídio/psicologia , Envio de Mensagens de Texto , Adulto , Austrália/epidemiologia , Feminino , Seguimentos , Humanos , Masculino , Serviços de Saúde Mental , Nova Zelândia/epidemiologia , Comportamento Autodestrutivo/epidemiologiaRESUMO
E-cigarettes are increasingly common around the world, particularly among youth. Ingestion of nicotine-containing e-liquid, while relatively rare, is the major toxicological risk associated with their use. Current Australian regulation has nicotine for use in e-cigarettes listed as a dangerous poison in Schedule 7, with its supply or sale illegal in all states and territories, while regulation on the sale of e-cigarettes and accessories varies by state. However, with increasing evidence that e-cigarettes produce far fewer toxic by-products than their combustible counterparts perhaps it is time to review this regulation.
Assuntos
Sistemas Eletrônicos de Liberação de Nicotina/instrumentação , Regulamentação Governamental , Nicotina/administração & dosagem , Fumar/epidemiologia , Austrália/epidemiologia , HumanosRESUMO
BACKGROUND: Medical school selection decisions have consequences beyond graduation. With generally low attrition rates, most medical students become junior doctors. Universities are therefore not just selecting students into a medical course; they are choosing the future medical workforce. Understanding the relationship between selection criteria and outcomes beyond the successful completion of a medical degree may inform approaches to student selection. METHODS: A retrospective data matching study was conducted involving 39 interns employed by a South Australian local health network in 2017 who had originally entered Flinders University's medical school through a graduate pathway. Student selection data were matched with internship workplace performance scores (measured by supervising consultants' reports across five clinical rotations using a standardised assessment). Correlational analyses then examined associations between these two sets of variables. RESULTS: An overall selection rank (equal thirds of weighted Grade Point Average from a prior degree, a panel interview, and a national selection test) was moderately associated with all performance measures, accounting for up to 25% of variance. Both weighted Grade Point Average and the interview had multiple and mostly moderate correlations with performance. An increasing number of years taken to complete the course was associated with poorer workplace performance across multiple outcome measures (moderate to strong negative associations with 31 to 62% of shared variance), as was age to a lesser extent (7 to 14%). The national selection test contributed a single and small relationship accounting for 5% of variance with one outcome measure. CONCLUSIONS: Selection into medicine is a critical assessment given that most students become doctors. This study found multiple associations between selection scores and junior doctor workplace performance measures in the internship year, with weighted Grade Point Average from a prior degree and an interview appearing more important than the national selection test. Future collaborative research should map desired workplace performance outcomes to initial student selection and explore the impact of changes to selection which focus on assessment of these domains. The association between slower course progression and poorer workplace performance should also be examined.
Assuntos
Avaliação Educacional , Competência Profissional/estatística & dados numéricos , Critérios de Admissão Escolar , Faculdades de Medicina , Estudantes de Medicina/estatística & dados numéricos , Local de Trabalho , Feminino , Humanos , Satisfação no Emprego , Masculino , Estudos Retrospectivos , Adulto JovemRESUMO
BACKGROUND: Clinical studies have shown that bipolar patients have increased serum uric acid levels. High serum uric acid levels could play a role contributing to high prevalence of metabolic syndrome. Metabolic syndrome is known to increase the risk of developing a number of life threatening diseases including coronary heart disease, hypertension, and type 2 diabetes. This study investigated the association between hyperuricemia and metabolic syndrome and its components in individuals suffering from bipolar disorders. METHODS: This study recruited 318 inpatients suffering from bipolar disorders from Beijing Hui-Long-Guan Hospital in China and 160 healthy subjects from the same region as the controls. We used National Cholesterol Education Program Adult Treatment Panel III Adapted criteria (NCEP ATP-III A) for the diagnosis of metabolic syndrome. Hyperuricemia was determined as serum uric acid level above 420 µmol/L in men and 360 µmol/L in women (N Engl J Med 359(17):1811-1821, 2008). RESULTS: Among 318 bipolar patients, there was higher prevalence of metabolic syndrome (42.5%) and hyperuricemia (27.7%) than healthy controls (21.9 and 11.9%). Bipolar patients with metabolic syndrome had increased prevalence of hyperuricemia (OR = 3.0, CI95 [1.7-5.4]). Hypertriglyceridemia and larger waist circumference (WC) were associated with hyperunicemia (OR = 1.8, CI95 [1.1-3.1], OR = 1.9, CI95 [1.1-3.4]). Hyperuricemia was associated with metabolic syndrome in bipolar patients (p < 0.001) and especially with hypertriglyceridemia (OR = 1.9, CI95 [1.1-3.1] and increased WC (OR = 2.1 [1.2-4.0]). Bipolar patients over 50 years of age and hyperuricemia were highly prone to develop metabolic syndrome (OR = 14.0, CI95 [5.0-39.0]). CONCLUSIONS: Hyperuricemia was highly associated with development of metabolic disorder particularly for aged patients suffering from bipolar disorders. Early prevention of hyperuricemia and metabolic syndrome may lead better life for bipolar patients when they get older.
Assuntos
Transtorno Bipolar , Hiperuricemia , Síndrome Metabólica , Adulto , Transtorno Bipolar/diagnóstico , Transtorno Bipolar/epidemiologia , Transtorno Bipolar/metabolismo , China/epidemiologia , Comorbidade , Correlação de Dados , Manual Diagnóstico e Estatístico de Transtornos Mentais , Feminino , Humanos , Hiperuricemia/diagnóstico , Hiperuricemia/epidemiologia , Hiperuricemia/etiologia , Hiperuricemia/prevenção & controle , Masculino , Síndrome Metabólica/diagnóstico , Síndrome Metabólica/epidemiologia , Síndrome Metabólica/prevenção & controle , Síndrome Metabólica/psicologia , Pessoa de Meia-Idade , Prevalência , Ácido Úrico/sangue , Circunferência da CinturaRESUMO
BACKGROUND: Activated phosphoinositide 3-kinase δ syndrome (APDS) is a recently described combined immunodeficiency resulting from gain-of-function mutations in PIK3CD, the gene encoding the catalytic subunit of phosphoinositide 3-kinase δ (PI3Kδ). OBJECTIVE: We sought to review the clinical, immunologic, histopathologic, and radiologic features of APDS in a large genetically defined international cohort. METHODS: We applied a clinical questionnaire and performed review of medical notes, radiology, histopathology, and laboratory investigations of 53 patients with APDS. RESULTS: Recurrent sinopulmonary infections (98%) and nonneoplastic lymphoproliferation (75%) were common, often from childhood. Other significant complications included herpesvirus infections (49%), autoinflammatory disease (34%), and lymphoma (13%). Unexpectedly, neurodevelopmental delay occurred in 19% of the cohort, suggesting a role for PI3Kδ in the central nervous system; consistent with this, PI3Kδ is broadly expressed in the developing murine central nervous system. Thoracic imaging revealed high rates of mosaic attenuation (90%) and bronchiectasis (60%). Increased IgM levels (78%), IgG deficiency (43%), and CD4 lymphopenia (84%) were significant immunologic features. No immunologic marker reliably predicted clinical severity, which ranged from asymptomatic to death in early childhood. The majority of patients received immunoglobulin replacement and antibiotic prophylaxis, and 5 patients underwent hematopoietic stem cell transplantation. Five patients died from complications of APDS. CONCLUSION: APDS is a combined immunodeficiency with multiple clinical manifestations, many with incomplete penetrance and others with variable expressivity. The severity of complications in some patients supports consideration of hematopoietic stem cell transplantation for severe childhood disease. Clinical trials of selective PI3Kδ inhibitors offer new prospects for APDS treatment.
Assuntos
Classe I de Fosfatidilinositol 3-Quinases/genética , Síndromes de Imunodeficiência/genética , Transtornos Linfoproliferativos/genética , Mutação/genética , Infecções Respiratórias/genética , Adolescente , Adulto , Animais , Antibioticoprofilaxia , Criança , Pré-Escolar , Classe I de Fosfatidilinositol 3-Quinases/antagonistas & inibidores , Estudos de Coortes , Inibidores Enzimáticos/uso terapêutico , Feminino , Transplante de Células-Tronco Hematopoéticas , Infecções por Herpesviridae/genética , Infecções por Herpesviridae/mortalidade , Infecções por Herpesviridae/terapia , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Síndromes de Imunodeficiência/mortalidade , Síndromes de Imunodeficiência/terapia , Lactente , Cooperação Internacional , Transtornos Linfoproliferativos/mortalidade , Transtornos Linfoproliferativos/terapia , Masculino , Camundongos , Pessoa de Meia-Idade , Recidiva , Infecções Respiratórias/mortalidade , Infecções Respiratórias/terapia , Inquéritos e Questionários , Análise de Sobrevida , Adulto JovemRESUMO
Primary immunodeficiencies (PIDs) are a widely heterogeneous group of inherited defects of the immune system consisting of many clinical phenotypes with at least 300 underlying genetic deficits currently known. Patients with PIDs can present with, or develop during the course of their life, a susceptibility to recurrent and chronic infection along with autoimmune, allergic, inflammatory, and/or proliferative disorders, all potentially leading to end-organ damage. In recent years, a combination of basic and clinical research has greatly improved understanding of the underlying immunological and genetic defects in PIDs, leading to improved diagnosis, classification, and treatment approaches. In this review, we consider some of the key understandings that should direct diagnostic and treatment approaches in PID and offer insights into current and emerging management approaches and the lifelong care of patients from childhood through to adulthood.
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Síndromes de Imunodeficiência/diagnóstico , Síndromes de Imunodeficiência/terapia , Adolescente , Adulto , Fatores Etários , Criança , Pré-Escolar , Atenção à Saúde , Gerenciamento Clínico , Humanos , Síndromes de Imunodeficiência/etiologia , Lactente , Recém-Nascido , Adulto JovemRESUMO
BACKGROUND: Recruitment is a widely cited barrier of representative intellectual disability research, yet it is rarely studied. This study aims to document the rates of recruiting children with intellectual disabilities using two methods and discuss the impact of such methods on sample characteristics. METHODS: Questionnaire completion rates are compared between (i) participants being approached in child development centre waiting rooms and (ii), one year later, the same participants being invited to take part by phone, email and/or post. RESULTS: The face-to-face recruitment method resulted in a better recruitment rate (58.5% compared to 18.5%) and a larger sample (n = 438) than the telephone/email/post sample (n = 40). It also required less hours of researcher time per completed questionnaire. CONCLUSIONS: In-line with previous research, recruitment of participants with intellectual disabilities (or their parents/carers) requires significant time and resources to get a sample of an acceptable size.
Assuntos
Deficiência Intelectual , Pais , Seleção de Pacientes , Projetos de Pesquisa , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Inquéritos e QuestionáriosAssuntos
DNA Ligase Dependente de ATP/deficiência , Predisposição Genética para Doença , Transplante de Células-Tronco Hematopoéticas , Biópsia , Gerenciamento Clínico , Estudos de Associação Genética , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Transplante de Células-Tronco Hematopoéticas/métodos , Humanos , Lactente , Masculino , Mutação , Fenótipo , Resultado do TratamentoRESUMO
Diesel engines have been a mainstay within many industries since the early 1900s. Exposure to diesel particulate matter (DPM) is a major issue in many industrial workplaces given the potential for serious health impacts to exposed workers; including the potential for lung cancer and adverse irritant and cardiovascular effects. Personal respiratory protective devices are an accepted safety measure to mitigate worker exposure against the potentially damaging health impacts of DPM. To be protective, they need to act as effective filters against carbon and other particulates. In Australia, the filtering efficiency of respiratory protective devices is determined by challenging test filter media with aerosolised sodium chloride to determine penetration at designated flow rates. The methodology outlined in AS/NZS1716 (Standards Australia International Ltd and Standards New Zealand 2012. Respiratory protective devices. Sydney/Wellington: SAI Global Limited/Standards New Zealand) does not account for the differences between characteristics of workplace contaminants like DPM and sodium chloride such as structure, composition, and particle size. This study examined filtering efficiency for three commonly used AS/NZS certified respirator filter models, challenging them with two types of diesel emissions; those from a diesel generator and a diesel engine. Penetration through the filter media of elemental carbon (EC), total carbon (TC), and total suspended particulate (TSP) was calculated. Results indicate that filtering efficiency assumed by P2 certification in Australia was achieved for two of the three respirator models for DPM generated using the small diesel generator, whilst when the larger diesel engine was used, filtering efficiency requirements were met for all three filter models. These results suggest that the testing methodology specified for certification of personal respiratory protective devices by Standards Australia may not ensure adequate protection for respirator users against DPM under all circumstances of diesel generated particles.