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INTRODUCTION: Children with congenital heart defects (CHD) have shorter life expectancy than the general population. Previous studies also suggest that patients with CHD have higher risk of cancer. This study aims to describe cancer-related mortality among patients with a history of CHD interventions using the Pediatric Cardiac Care Consortium (PCCC), a large US cohort of such patients. METHODS: We performed a retrospective cohort study of individuals (<21 years) who underwent interventions for CHD in the PCCC from 1982 to 2003. Patients surviving their first intervention were linked to the National Death Index through 2020. Multivariable models assessed risk of cancer-related death, adjusting for age, sex, race, and ethnicity. Patients with/without genetic abnormalities (mostly Down syndrome [DS]) were considered separately, due to expected differential risk in cancer. RESULTS: Among the 57,601 eligible patients in this study, cancer was the underlying or contributing cause of death for 208; with 20% among those with DS. Significantly increased risk of cancer-related death was apparent among patients with DS compared to the non-genetic group (aHR: 3.63, 95% confidence interval [CI]: 2.52-5.24, p < .001). For the group with non-genetic abnormalities, the highest association with cancer-related death compared to those with mild CHD was found among those with more severe CHD (severe two-ventricle aHR: 1.82, 95% CI: 1.04-3.20, p = .036, single-ventricle aHR: 4.68, 95% CI: 2.77-7.91, p < .001). CONCLUSIONS: Patients with more severe forms of CHD are at increased risk for cancer-related death. Despite our findings, we are unable to distinguish whether having CHD raises the risk of cancer or reduces survival.
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BACKGROUND: Post graduate master's degree qualifications are increasingly required to advance allied health profession careers in education, clinical practice, leadership, and research. Successful awards are dependent on completion of a research dissertation project. Despite the high volume of experience gained and research undertaken at this level, the benefits and impact are not well understood. Our study aimed to evaluate the perceived impact and legacy of master's degree training and research on allied health profession practice and research activity. METHODS: A cross-sectional online survey design was used to collect data from allied health professionals working in the United Kingdom who had completed a postgraduate master's degree. Participants were recruited voluntarily using social media and clinical interest group advertisement. Data was collected between October and December 2022 and was analysed using descriptive statistics and narrative content analysis. Informed consent was gained, and the study was approved by the university research ethics committee. RESULTS: Eighty-four responses were received from nine allied health professions with paramedics and physiotherapists forming the majority (57%) of respondents. Primary motivation for completion of the master's degree was for clinical career progression (n = 44, 52.4%) and formation of the research dissertation question was predominantly sourced from individual ideas (n = 58, 69%). Formal research output was low with 27.4% (n = 23) of projects published in peer reviewed journal and a third of projects reporting no output or dissemination at all. Perceived impact was rated highest in individual learning outcomes, such as improving confidence and capability in clinical practice and research skills. Ongoing research engagement and activity was high with over two thirds (n = 57, 67.9%) involved in formal research projects. CONCLUSION: The focus of master's degree level research was largely self-generated with the highest perceived impact on individual outcomes rather than broader clinical service and organisation influence. Formal output from master's research was low, but ongoing research engagement and activity was high suggesting master's degree training is an under-recognised source for AHP research capacity building. Future research should investigate the potential benefits of better coordinated and prioritised research at master's degree level on professional and organisational impact.
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Pessoal Técnico de Saúde , Educação de Pós-Graduação , Estudos Transversais , Humanos , Reino Unido , Pessoal Técnico de Saúde/educação , Pessoal Técnico de Saúde/psicologia , Masculino , Feminino , Inquéritos e Questionários , Ocupações Relacionadas com Saúde/educação , AdultoRESUMO
BACKGROUND: In the majority of cases, the cause of stillbirth remains unknown despite detailed clinical and laboratory evaluation. Approximately 10 to 20% of stillbirths are attributed to chromosomal abnormalities. However, the causal nature of single-nucleotide variants and small insertions and deletions in exomes has been understudied. METHODS: We generated exome sequencing data for 246 stillborn cases and followed established guidelines to identify causal variants in disease-associated genes. These genes included those that have been associated with stillbirth and strong candidate genes. We also evaluated the contribution of 18,653 genes in case-control analyses stratified according to the degree of depletion of functional variation (described here as "intolerance" to variation). RESULTS: We identified molecular diagnoses in 15 of 246 cases of stillbirth (6.1%) involving seven genes that have been implicated in stillbirth and six disease genes that are good candidates for phenotypic expansion. Among the cases we evaluated, we also found an enrichment of loss-of-function variants in genes that are intolerant to such variation in the human population (odds ratio, 2.15; 95% confidence interval [CI], 1.46 to 3.06). Loss-of-function variants in intolerant genes were concentrated in genes that have not been associated with human disease (odds ratio, 2.22; 95% CI, 1.41 to 3.34), findings that differ from those in two postnatal clinical populations that were also evaluated in this study. CONCLUSIONS: Our findings establish the diagnostic utility of clinical exome sequencing to evaluate the role of small genomic changes in stillbirth. The strength of the novel risk signal (as generated through the stratified analysis) was similar to that in known disease genes, which indicates that the genetic cause of stillbirth remains largely unknown. (Funded by the Institute for Genomic Medicine.).
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Variação Genética , Mutação , Natimorto/genética , Feminino , Mutação da Fase de Leitura , Humanos , Mutação com Perda de Função , Mutação de Sentido Incorreto , Gravidez , Sequenciamento do ExomaRESUMO
Social work supervision addresses professional development, staff support, and management of direct service workers. It is important in aging-services settings because of the impacts of complex and evolving biopsychosocial forces in clients' lives. This article presents findings of the Supervisory Leaders in Aging (SLA) study based on data available one-year post completion. SLA is a 30-hour certificate program for supervisors from aging-services settings addressing best practices in supervision of gerontological practice. The study compares participants' self-assessment of use of supervisory best practices before attending a 3-month workshop series and at two times following graduation. This article reports findings from the analysis of data provided by 114 out of 129 supervisors who completed the program. Participants increased the frequency of use of best practices at both three and 12 months after graduation. These increases were conceptually meaningful and statistically significant among participants who were low users of best practices prior to the program. SLA has led to significant adoption and maintenance of supervisory best practices among participating social work supervisors and especially among those who have not previously adopted routine use of best practices. The interactive small-group learning activities of SLA's educational model should be promoted and the curriculum of best practices should be further refined and tested as SLA is implemented in other communities.
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Geriatria , Humanos , Geriatria/educação , Serviço Social , Currículo , Modelos Educacionais , EnvelhecimentoRESUMO
AIMS: Daily diabetes stressful events take a toll on individuals with type 1 diabetes, and these experiences may look different across adulthood. The aims of the current study were to understand the nature of daily diabetes stress across adulthood and explore whether these experiences differed by age. METHODS: In this qualitative study, adults with T1D (N = 199, Mage = 46.81 years) described the most stressful event related to their diabetes each evening as part of a 14-day diary. Using a grounded theory approach, diabetes stressful events were coded for where they occurred, the source of stress (i.e. interpersonal or not), and content (e.g. sleep; blood glucose checking; frustration). RESULTS: Participants reported having a diabetes-related stressful event on 58% (M = 0.58, SD = (0.25)) of days. Daily stressful events included issues of diabetes management, diabetes-related interference to or from other areas of life, and negative impact on psychological well-being, but rarely included a social component. Older adults were less likely to report having a diabetes-related stressful event, but were more likely to report that stressful events occurred at home, compared to younger adults. CONCLUSION: The lived experience of diabetes-related stress appears similar across ages, with individuals continuing to experience generally the same types of diabetes-related events in similar frequencies. Interventions to help improve diabetes outcomes or well-being may benefit from targeting the most commonly experienced areas of stress, which includes reducing the interference of daily activities to and by diabetes management.
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Diabetes Mellitus Tipo 1/complicações , Acontecimentos que Mudam a Vida , Estresse Psicológico/psicologia , Adulto , Idoso , Diabetes Mellitus Tipo 1/psicologia , Feminino , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Estresse Psicológico/epidemiologia , Estresse Psicológico/etiologia , Estados Unidos/epidemiologiaRESUMO
Anomalous right coronary artery from pulmonary artery (ARCAPA) is a rare congenital heart disease that can lead to abnormal coronary perfusion and a need for surgical repair. Here, we report the outcomes of patients who underwent ARCAPA surgery within the Pediatric Cardiac Care Consortium (PCCC), a North American registry of interventions for paediatric heart diseases. We queried the PCCC for patients undergoing surgical repair for ARCAPA at <18 years of age between 1982 and 2003. Outcomes were obtained from the PCCC and after linkage with the National Death Index (NDI) and the Organ Procurement and Transplantation Network (OPTN) through 2019. Twenty-four patients (males: 15) were identified having surgery for ARCAPA at a median age of 5.8 (IQR 2.7-10.3) years. Of them, 23 cases were considered "simple" (without major intracardiac disease) and one "complex" (co-existing with tetralogy of Fallot). Five patients presented with symptoms [chest pain (1), dyspnoea on exertion (2) or history of syncope (2)]; while the remaining 19 patients were referred for evaluation of either murmur or co-existing CHD. There was no in-hospital mortality after the surgical repair. Fourteen patients had sufficient identifiers for NDI/OPTN linkage; among them, only one death occurred from unrelated non-cardiac causes within a median period of 19.4 years of follow-up (IQR: 18-24.6). Outcomes were excellent after reimplantation up to 25 years later and further longitudinal monitoring is important to understand the interaction of pre-existing coronary pathology with the effects of ageing.
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INTRODUCTION AND PURPOSE: The purpose of this study was to evaluate the outcomes of utilizing a 3D prosthetic device with a home exercise program. This case study was intended to see if the application of a home exercise program utilizing a 3D printed prosthetic hand resulted in increased range of motion, strength, coordination, sensory integration, and perceived function of the upper extremity. STUDY DESIGN: Case Study METHODS: This study outlines one rehabilitation protocol for a 6-year-old boy with right congenital upper limb deficiency. A 4-week home rehabilitation protocol was utilized with a 3D printed prosthetic hand. Pre-assessment measurements were taken of range of motion, strength testing, BOT-2 coordination, and a sensory questionnaire. The home program included ROM exercises, body-powered use of the 3D printed device, strengthening without the device and sensory integration exercises. The frequency of the protocol was 3 times per week for 30 minutes with adult supervision. RESULTS: Improvements were seen in range of motion, strength, coordination, and sensory integration. Results demonstrated improved right upper extremity strength with all movements except radial deviation. Range of motion improved with passive and active wrist flexion, extension, and forearm pronation. Sensory integration questionnaires showed decreased sensory sensitivities. A structured home exercise program with and without a 3D printed hand improved upper extremity function in this population. DISCUSSION: Evaluating the outcomes of a home rehabilitation protocol for a child using a 3D printed hand was successful. The studies evidence will help guide treatment and clinical decision making for future studies.
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OBJECTIVE: To evaluate long-term transplant-free survival and causes of death in the trisomy 21 (T21) population after surgery for congenital heart disease (CHD) in comparison with patients who are euploidic. STUDY DESIGN: This is a retrospective cohort study from the Pediatric Cardiac Care Consortium, enriched with prospectively collected data from the National Death Index and the Organ Procurement and Transplantation Network for patients with sufficient direct identifiers. Kaplan-Meier survival plots were generated and multivariable Cox proportional hazards models were used to examine risk factors for mortality between patients with T21 and 1:1 matched patients with comparable CHD who are euploidic. RESULTS: A long-term survival analysis was completed for 3376 patients with T21 (75 155 person-years) who met inclusion criteria. The 30-year survival rate for patients with T21 ranged from 92.1% for ventricular septal defect to 65.3% for complex common atrioventricular canal. Of these, 2185 patients with T21 were successfully matched with a patient who was euploidic. After a median follow-up of 22.86 years (IQR, 19.45-27.14 years), 213 deaths occurred in the T21 group (9.7%) compared with 123 (5.6%) in the euploidic comparators. After adjustment for age, sex, era, CHD complexity, and initial palliation, the hazard ratio of CHD-related mortality was 1.34 times higher in patients with T21 (95% CI, 0.92-1.97; P = .127). CONCLUSIONS: CHD-related mortality for patients with T21 after cardiac surgical intervention is comparable with euploidic comparators. Children with T21 require lifelong surveillance for co-occurring conditions associated with their chromosomal abnormality.
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Síndrome de Down/mortalidade , Cardiopatias Congênitas/mortalidade , Cardiopatias Congênitas/cirurgia , Procedimentos Cirúrgicos Cardíacos , Causas de Morte , Pré-Escolar , Estudos de Coortes , Síndrome de Down/complicações , Feminino , Cardiopatias Congênitas/complicações , Humanos , Lactente , Recém-Nascido , Masculino , Estudos Retrospectivos , Taxa de Sobrevida , Fatores de TempoRESUMO
CSNK2B has recently been implicated as a disease gene for neurodevelopmental disability (NDD) and epilepsy. Information about developmental outcomes has been limited by the young age and short follow-up for many of the previously reported cases, and further delineation of the spectrum of associated phenotypes is needed. We present 25 new patients with variants in CSNK2B and refine the associated NDD and epilepsy phenotypes. CSNK2B variants were identified by research or clinical exome sequencing, and investigators from different centers were connected via GeneMatcher. Most individuals had developmental delay and generalized epilepsy with onset in the first 2 years. However, we found a broad spectrum of phenotypic severity, ranging from early normal development with pharmacoresponsive seizures to profound intellectual disability with intractable epilepsy and recurrent refractory status epilepticus. These findings suggest that CSNK2B should be considered in the diagnostic evaluation of patients with a broad range of NDD with treatable or intractable seizures.
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Deficiências do Desenvolvimento/genética , Epilepsia Generalizada/genética , Adolescente , Adulto , Idade de Início , Criança , Pré-Escolar , Deficiências do Desenvolvimento/fisiopatologia , Epilepsias Mioclônicas/diagnóstico , Epilepsias Mioclônicas/etiologia , Epilepsias Mioclônicas/genética , Epilepsia Generalizada/diagnóstico , Epilepsia Generalizada/etiologia , Exoma/genética , Feminino , Variação Genética , Humanos , Lactente , Deficiência Intelectual/etiologia , Deficiência Intelectual/genética , Masculino , Mutação/genética , Fenótipo , Estado Epiléptico/diagnóstico , Estado Epiléptico/etiologia , Estado Epiléptico/genética , Adulto JovemRESUMO
BACKGROUND: Brain tumor survivors are at risk for significant late effects following treatment completion that may adversely impact health-related quality of life (HRQOL). The current study examines the relationship between executive functioning (EF) and HRQOL in pediatric brain tumor survivors within a longitudinal framework. We hypothesized that early deficits in EF would be related to less optimal HRQOL in this population. PROCEDURE: The current study utilized retrospective medical chart review to identify neurocognitive correlates of HRQOL in 137 youth previously treated for a pediatric brain tumor. Participants completed the Pediatric Quality of Life Inventory (PedsQL) and neuropsychological assessment, including a well-validated measure of executive functioning (Behavior Rating Inventory of Executive Function; BRIEF). General linear regression and multivariate models were utilized to examine the relationship between child executive functioning and HRQOL. RESULTS: Multiple domains of child executive functioning, as reported by parents on the BRIEF, significantly predicted parent-proxy reported HRQOL after controlling for demographic and medical covariates, including child intellectual functioning (IF). Similarly, after controlling for covariates, the BRIEF Cognitive Regulation Index was a significant predictor of self-reported physical and school functioning domains of HRQOL. CONCLUSION: Current data demonstrate EF is a significant predictor of HRQOL during survivorship for youth previously diagnosed with a pediatric brain tumor. Results suggest that opportunities may exist to intervene and improve HRQOL of pediatric brain tumor survivors by targeting EF.
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Neoplasias Encefálicas , Função Executiva , Qualidade de Vida , Adolescente , Neoplasias Encefálicas/psicologia , Criança , Humanos , Estudos Retrospectivos , SobreviventesRESUMO
A cryophilic basidiomycetous yeast unable to grow at 18 °C or higher temperatures was isolated from a subsurface permafrost layer collected in the Eastern Swiss Alps and from melted sea ice collected in the Artic at Frobisher Bay, Nunavut, Canada. Phylogenetic analyses employing combined sequences of the D1/D2 domain and ITS region indicated that the two new isolates belong to the family Camptobasidiaceae of the class Microbotryomycetes but are distantly related to any of the currently recognized species and genera. Consequently, the novel genus Cryolevonia, and the novel species Cryolevonia schafbergensis (type strain PYCC 8347T=CBS 16055T) are proposed to accommodate this cryophilic yeast. Although sparse hyphae and teliospore-like stuctures were observed upon prolonged incubation, a sexual cycle was not observed and therefore C. schafbergensis is documented solely from its asexual stage.
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Basidiomycota/classificação , Camada de Gelo/microbiologia , Pergelissolo/microbiologia , Filogenia , Basidiomycota/isolamento & purificação , Canadá , DNA Fúngico/genética , DNA Espaçador Ribossômico/genética , Técnicas de Tipagem Micológica , Análise de Sequência de DNA , SuíçaRESUMO
BACKGROUND: Unrecognised and untreated parental mental illness is a major adverse childhood experience with potentially life-long consequences for health and wellbeing. In the United Kingdom (UK) health visitors provide a universal health promotion service to children aged 0-5 years, which includes safeguarding. This preventive work is highly relevant to policy aims of improving outcomes for children living with adverse childhood experiences, but is currently under researched. The aim of this study was to explore how health visitors promote young children's wellbeing when a parent has a mental health problem, and to co-produce strategies to improve child health outcomes. METHODS: A mixed methods study was conducted, consisting of a cross-sectional survey and consensus workshops in Wales, UK. In phase 1 health visitors (n = 174) responded to an online questionnaire designed to explore the nature and scope of their preventive work with families experiencing mental ill health. For phase 2 providers of health and other support services (n = 38) took part in Nominal Group Technique workshops to co-produce strategies for better joint working to protect the wellbeing of children living with parental ill health. RESULTS: We identified that health visitors routinely provide support to families where parents have a range of mental health problems, including severe mental illness. Most practice is focused on mothers with depression, and fewer respondents were confident about working with fathers. Unmet training needs were identified in relation to adult mental illness, particularly the impact upon children. Solutions to working more effectively with professional and voluntary agencies included raising awareness of professional roles and responsibilities, timely two-way communication, taking a strengths-based approach and maintaining a focus on the child. CONCLUSIONS: This study provided evidence on the range of parental mental ill health encountered by health visitors and the strategies they use to protect children's wellbeing. Increasing the effectiveness of joint working is key to improving outcomes for babies and young children, including greater use of voluntary sector services. This study has implications for those who commission and provide health and welfare services for children, and adult mental health services.
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Saúde da Criança , Filho de Pais com Deficiência , Promoção da Saúde , Transtornos Mentais , Enfermeiros de Saúde Comunitária/psicologia , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Inquéritos e Questionários , País de GalesRESUMO
Severe atrioventricular valve (AVV) or semilunar valve (SLV) regurgitation in the setting of a single ventricle physiology may proceed to valve replacement if repair strategies fail. Outcome data for these children are limited. We present transplant-free survival of a case series of children with single ventricle physiology undergoing either atrioventricular replacement (AVVR) or semilunar valve replacement (SLVR) from a multi-institutional, US-based registry (Pediatric Cardiac Care Consortium-PCCC). Outcomes were derived from PCCC and by linkage with the National Death Index (NDI) and Organ Procurement Transplant Network (OPTN). Fifty children with single ventricle physiology were identified to have received either AVVR (n = 38) or SLVR (n = 12). There were 17 in-hospital deaths including 8 intraoperative deaths (all intraoperative deaths were among children requiring AVVR). The in-hospital mortality was 42% and 8% for AVVR and SLVR, respectively. Among the 33 children surviving to hospital discharge, follow-up was available in 15 (46%). Death or cardiac transplant after hospital discharge occurred in 10-death in 4 (all among those requiring AVVR), cardiac transplant in 6 (2 following AVVR, 4 following SLVR). Valve replacement in children with single ventricle physiology, especially AVVR, is associated with poor outcomes. Alternative palliation strategies should be considered in children with single ventricle physiology with significant AVV or SLV regurgitations.
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Implante de Prótese de Valva Cardíaca/métodos , Coração Univentricular/cirurgia , Adolescente , Criança , Pré-Escolar , Feminino , Implante de Prótese de Valva Cardíaca/mortalidade , Humanos , Masculino , Estudos Retrospectivos , Fatores de Tempo , Resultado do Tratamento , Coração Univentricular/mortalidade , Coração Univentricular/fisiopatologiaRESUMO
Mutations in the gene SCAPER (S-phase CyclinA Associated Protein residing in the Endoplasmic Reticulum) have recently been identified as causing syndromic autosomal recessive retinitis pigmentosa with the extraocular manifestations of intellectual disability and attention-deficit/hyperactivity disorder. We present the case of an 11-year-old boy that presented to our clinic with the complaint of decreased night vision. Clinical presentation, family history, and diagnostic imaging were congruent with the diagnosis of autosomal recessive retinitis pigmentosa. Genetic testing of the patient and both parents via whole-exome sequencing revealed the homozygous mutation c.2023-2A>G in SCAPER. Unique to our patient's presentation is the absence of intellectual disability and attention-deficit/hyperactivity disorder, suggesting that SCAPER-associated retinitis pigmentosa can also present without systemic manifestations.
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Proteínas de Transporte/genética , Sequenciamento do Exoma , Retinose Pigmentar/genética , Criança , Exoma/genética , Proteínas do Olho/genética , Heterozigoto , Humanos , Masculino , Mutação , LinhagemRESUMO
The ClinGen Inborn Errors of Metabolism Working Group was tasked with creating a comprehensive, standardized knowledge base of genes and variants for metabolic diseases. Phenylalanine hydroxylase (PAH) deficiency was chosen to pilot development of the Working Group's standards and guidelines. A PAH variant curation expert panel (VCEP) was created to facilitate this process. Following ACMG-AMP variant interpretation guidelines, we present the development of these standards in the context of PAH variant curation and interpretation. Existing ACMG-AMP rules were adjusted based on disease (6) or strength (5) or both (2). Disease adjustments include allele frequency thresholds, functional assay thresholds, and phenotype-specific guidelines. Our validation of PAH-specific variant interpretation guidelines is presented using 85 variants. The PAH VCEP interpretations were concordant with existing interpretations in ClinVar for 69 variants (81%). Development of biocurator tools and standards are also described. Using the PAH-specific ACMG-AMP guidelines, 714 PAH variants have been curated and will be submitted to ClinVar. We also discuss strategies and challenges in applying ACMG-AMP guidelines to autosomal recessive metabolic disease, and the curation of variants in these genes.
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Genoma Humano/genética , Erros Inatos do Metabolismo/genética , Fenilalanina Hidroxilase/genética , Bases de Dados Genéticas , Frequência do Gene/genética , Testes Genéticos , Variação Genética/genética , HumanosRESUMO
Faults strengthen or heal with time in stationary contact, and this healing may be an essential ingredient for the generation of earthquakes. In the laboratory, healing is thought to be the result of thermally activated mechanisms that weld together micrometre-sized asperity contacts on the fault surface, but the relationship between laboratory measures of fault healing and the seismically observable properties of earthquakes is at present not well defined. Here we report on laboratory experiments and seismological observations that show how the spectral properties of earthquakes vary as a function of fault healing time. In the laboratory, we find that increased healing causes a disproportionately large amount of high-frequency seismic radiation to be produced during fault rupture. We observe a similar connection between earthquake spectra and recurrence time for repeating earthquake sequences on natural faults. Healing rates depend on pressure, temperature and mineralogy, so the connection between seismicity and healing may help to explain recent observations of large megathrust earthquakes which indicate that energetic, high-frequency seismic radiation originates from locations that are distinct from the geodetically inferred locations of large-amplitude fault slip.
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Aggressive behavior is widespread in the animal kingdom, but the degree of molecular conservation between distantly related species is still unclear. Recent reports suggest that at least some of the molecular mechanisms underlying this complex behavior in flies show remarkable similarities with such mechanisms in mice and even humans. Surprisingly, some aspects of neuronal control of aggression also show remarkable similarity between these distantly related species. We will review these recent findings, address the evolutionary implications, and discuss the potential impact for our understanding of human diseases characterized by excessive aggression.
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Agressão/fisiologia , Comportamento Animal/fisiologia , Neurônios/metabolismo , Neuropeptídeos/metabolismo , Animais , Evolução Biológica , Drosophila melanogaster/genética , Humanos , Camundongos , Receptores Citoplasmáticos e Nucleares/genética , Transcrição Gênica/genéticaRESUMO
Introduction: Recruiting racial, ethnic, and other underserved minorities into conventional clinic-based and other trials is known to be challenging. The Sistas Inspiring Sistas Through Activity and Support (SISTAS) Program was a one-year randomized controlled trial (RCT) to promote physical activity and healthy eating among AA women in SC to reduce inflammatory biomarkers, which are linked to increased breast cancer (BrCa) risk and mortality. This study describes the development, recruitment, and implementation of the SISTAS clinical trial and provides baseline characteristics of the study participants. Methods: SISTAS was developed using community-based participatory research (CBPR) approaches. At baseline, study participants completed assessments and underwent clinical measurements and blood draws to measure C-reactive protein (CRP) and interleukin-6 (IL-6). Participants randomized to the intervention received 12 weekly classes followed by nine monthly booster sessions. Post-intervention measurements were assessed at 12-week and 12-month follow-ups. Results: We recruited a total of 337 women who tended to: be middle-aged (mean age 48.2 years); have some college education; be employed full-time; have Medicare as their primary insurance; be non-smokers; and perceive their personal health as good. On average, the women were pre-hypertensive at baseline (mean systolic blood pressure = 133.9 mm Hg; mean diastolic blood pressure = 84.0 mm Hg) and morbidly obese (mean BMI >40.0 kg/m2); the mean fat mass and fat-free mass among participants were 106.4 lb and 121.0 lb, respectively. Conclusion: The SISTAS RCT addresses some of the gaps in the literature with respect to CBPR interventions targeting AA women, such as implementing diet and physical activity in CBPR-based studies to decrease BrCa risk.
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Dieta Saudável , Exercício Físico , Obesidade Mórbida , Negro ou Afro-Americano/psicologia , Negro ou Afro-Americano/estatística & dados numéricos , Pesquisa Participativa Baseada na Comunidade , Dieta Saudável/etnologia , Dieta Saudável/psicologia , Exercício Físico/fisiologia , Exercício Físico/psicologia , Feminino , Conhecimentos, Atitudes e Prática em Saúde , Promoção da Saúde/métodos , Humanos , Pessoa de Meia-Idade , Obesidade Mórbida/diagnóstico , Obesidade Mórbida/etnologia , Obesidade Mórbida/psicologia , Avaliação de Resultados em Cuidados de Saúde , Seleção de Pacientes , Estados Unidos/epidemiologiaRESUMO
Pyridoxine-Dependent Epilepsy (PDE) is a recessive disorder caused by deficiency of α-aminoadipic semialdehyde dehydrogenase in the catabolic pathway of lysine. It is characterized by intractable seizures controlled by the administration of pharmacological doses of vitamin B6. Despite seizure control with pyridoxine, intellectual disability and developmental delays are still observed in some patients with PDE, likely due to the accumulation of toxic intermediates in the lysine catabolic pathway: alpha-aminoadipic semialdehyde (AASA), delta-1-piperideine-6-carboxylate (P6C), and pipecolic acid. Here we evaluate biochemical and clinical parameters in two PDE patients treated with a lysine-restricted diet and arginine supplementation (100-150mg/kg), aimed at reducing the levels of PDE biomarkers. Lysine restriction resulted in decreased accumulation of PDE biomarkers and improved development. Plasma lysine but not plasma arginine, directly correlated with plasma levels of AASA-P6C (p<0.001, r(2)=0.640) and pipecolic acid (p<0.01, r(2)=0.484). In addition, plasma threonine strongly correlated with the levels of AASA-P6C (p<0.0001, r(2)=0.732) and pipecolic acid (p<0.005, r(2)=0.527), suggesting extreme sensitivity of threonine catabolism to pyridoxine availability. Our results further support the use of dietary therapies in combination with pyridoxine for the treatment of PDE.
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Arginina/administração & dosagem , Biomarcadores/sangue , Epilepsia/dietoterapia , Lisina/sangue , Pré-Escolar , Suplementos Nutricionais , Epilepsia/metabolismo , Feminino , Humanos , Lactente , Lisina/deficiência , Masculino , Ácidos Pipecólicos/sangue , Estudos Retrospectivos , Sacaropina Desidrogenases/sangue , Resultado do TratamentoRESUMO
INTRODUCTION AND HYPOTHESIS: There is a paucity of literature on resumption of normal voiding predictors after synthetic retropubic sling insertion and lack of a standardized method of determination. Our goals were to determine the incidence of a successful voiding trial; whether clinical, operative, or urodynamic variables predict discharge with a catheter; and incidence of later retention in those who were initially successful. METHODS: We performed an internal-review-board (IRB)-approved retrospective chart review of 229 consecutive patients who underwent retropubic sling (TVT, Boston Scientific, Natick, MA, USA)) from 2001 to 2010. Exclusions were concomitant surgery or cystotomy at the time of retropubic sling insertion. All participants underwent a voiding trial in recovery consisting of 300 cc sterile-water retrograde fill and were discharged home without a catheter after single void of at least 200 cc following catheter removal. RESULTS: Of 170 patients, 136 (80 %) passed the voiding trial the same day, with 165 (97 %) passing within 1 day. Factors associated with delayed voiding were age ≥65 years (p < 0.05), presence of Valsalva voiding (p < 0.01), lower body mass index (BMI) (p < 0.05), and higher gravidity (p < 0.05) and parity (p < 0.01). Age ≥65 years [adjusted odds ratio (aOR) 3.72, 95 % confidence interval (CI) 1.40-9.90, p < 0.01] and Valsalva voiding (aOR 3.89, 95 % CI 1.56-9.69, p < 0.01) remained significant independent predictors in multivariate analysis. CONCLUSIONS: The majority of patients with retropubic sling can be safely discharged home the same day without a catheter after retrograde fill. Women >65 years or Valsalva voiders had nearly four times the odds of being discharged with a catheter. Most patients resume normal voiding within 24 h after retropubic sling insertion, but >65 years and Valsalva voiding are risk factors for voiding inability at discharge.