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The orchid genus Dipodium R.Br. (Epidendroideae) comprises leafy autotrophic and leafless mycoheterotrophic species, with the latter confined to sect. Dipodium. This study examined plastome degeneration in Dipodium in a phylogenomic and temporal context. Whole plastomes were reconstructed and annotated for 24 Dipodium samples representing 14 species and two putatively new species, encompassing over 80% of species diversity in sect. Dipodium. Phylogenomic analysis based on 68 plastid loci including a broad outgroup sampling across Orchidaceae found that sect. Leopardanthus is the sister lineage to sect. Dipodium. Dipodium ensifolium, the only leafy autotrophic species in sect. Dipodium, was found to be a sister to all leafless, mycoheterotrophic species, supporting a single evolutionary origin of mycoheterotrophy in the genus. Divergence-time estimations found that Dipodium arose ca. 33.3 Ma near the lower boundary of the Oligocene and that crown diversification commenced in the late Miocene, ca. 11.3 Ma. Mycoheterotrophy in the genus was estimated to have evolved in the late Miocene, ca. 7.3 Ma, in sect. Dipodium. The comparative assessment of plastome structure and gene degradation in Dipodium revealed that plastid ndh genes were pseudogenised or physically lost in all Dipodium species, including in leafy autotrophic species of both Dipodium sections. Levels of plastid ndh gene degradation were found to vary among species as well as within species, providing evidence of relaxed selection for retention of the NADH dehydrogenase complex within the genus. Dipodium exhibits an early stage of plastid genome degradation, as all species were found to have retained a full set of functional photosynthesis-related genes and housekeeping genes. This study provides important insights into plastid genome degradation along the transition from autotrophy to mycoheterotrophy in a phylogenomic and temporal context.
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Diabetes mellitus (DM) has been proposed to be positively associated with breast cancer (BCa) risk due to shared risk factors, metabolic dysfunction, and the use of antidiabetic medications. We conducted a systematic review and meta-analysis to evaluate the association between DM and BCa risk. We searched PubMed, Embase, and Web of Science for cohort and case-control studies assessing the association between DM and BCa published before 10 December 2021. Two reviewers independently screened the studies for inclusion, abstracted article data, and rated study quality. Random effects models were used to estimate summary risk ratios (RRs) and 95% confidence intervals (CIs). From 8396 articles identified in the initial search, 70 independent studies were included in the meta-analysis. DM was associated with an overall increased risk of BCa (RR = 1.20, 95% CI: 1.11-1.29). The 24 case-control studies demonstrated a stronger association (RR = 1.26, 95% CI: 1.13-1.40) than the 46 cohort studies (RR = 1.15, 95% CI: 1.05-1.27). Studies reporting risk by menopausal status found that postmenopausal women had an elevated risk of developing BCa (RR = 1.12, 95% CI: 1.07-1.17). No association between DM and BCa risk was observed among premenopausal women (RR = 0.95, 95% CI: 0.85-1.05). In addition, DM was associated with significantly increased risks of oestrogen receptor (ER)+ (RR = 1.09, 95% CI: 1.00-1.20), ER- (RR = 1.16, 95% CI: 1.04-1.30), and triple negative BCa (RR = 1.41, 95% CI: 1.01-1.96). The association estimate for human epidermal growth factor 2-positive BCa was also positive (RR = 1.21, 95% CI: 0.52-2.82), but the CI was wide and crossed the null. Our meta-analysis confirms a modest positive association between DM and BCa risk. In addition, our results suggest that the association between DM and BCa may be modified by menopausal status, and that DM may be differentially associated with BCa subtypes defined by receptor status. Additional studies are warranted to investigate the mechanisms underlying these associations and any influence of DM on BCa receptor expression.
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Neoplasias da Mama , Diabetes Mellitus Tipo 2 , Humanos , Feminino , Incidência , Neoplasias da Mama/epidemiologia , Neoplasias da Mama/etiologia , Fatores de Risco , Diabetes Mellitus Tipo 2/complicações , Estudos de CoortesRESUMO
Objective: The aim of this study is to examine complementary and alternative medicine (CAM) use among women with symptomatic uterine fibroids in the United States. Materials and Methods: In this cross-sectional analysis of baseline data from a multicenter, prospective cohort study of premenopausal women undergoing surgery for symptomatic fibroids and who enrolled in the Uterine Leiomyoma Treatment with Radiofrequency Ablation study from 2017 to 2019, we contrast women indicating use of at least one CAM modality specifically for fibroid symptoms against women using CAM for other reasons and CAM nonusers. Multivariable logistic regression models were performed to identify participant characteristics independently associated with CAM use for fibroids. Results: Among 204 women, 55% were Black/African American and the mean age was 42 (standard deviation 6.6) years. CAM use was common (67%), with 42% (95% confidence interval [CI]: 35%-49%) reporting use of CAM specifically to treat fibroid symptoms. Most commonly, CAM treatments used for fibroids were diet (62%) and herbs (52%), while CAM treatments for other reasons were exercise (80%) and massage (43%). On average, each participant who reported CAM use utilized three different types of CAM modalities. In a multivariable model, participants were more likely to use CAM for fibroids if they had pelvic pressure (odds ratio [OR] 2.50, 95% CI: 1.07-5.87, p = 0.04), a body-mass index lower than average (OR 0.76, 95% CI: 0.60-0.97, p = 0.03), and a lower health-related quality of life score (OR 0.61, 95% CI: 0.46-0.81, p = 0.001). Conclusions: In this diverse sample of women with symptomatic fibroids, CAM use was highly prevalent. Our findings highlight the need for providers to query patients about CAM use and understand the role of CAM in fibroid management. ClinicalTrials.gov Identifier: NCT02100904.
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Terapias Complementares , Leiomioma , Neoplasias Uterinas , Humanos , Feminino , Estados Unidos , Adulto , Neoplasias Uterinas/terapia , Neoplasias Uterinas/complicações , Estudos Prospectivos , Qualidade de Vida , Estudos Transversais , Leiomioma/terapia , Leiomioma/complicaçõesRESUMO
PURPOSE: The proportion of head and neck cancers (HNCs) with human papillomavirus (HPV) positivity in sub-Saharan Africa (SSA) is poorly characterized. Characterizing this has implications in staging, prognosis, resource allocation, and vaccination policies. This study aims to determine the proportion of HPV-associated HNC in SSA. MATERIALS AND METHODS: This systematic review included searches from PubMed, EMBASE, Web of Science, African Index Medicus, Google Scholar, and African Journals Online. All English publications reporting the proportion of HNC specimens from SSA patients who tested positive for HPV and/or p16 were included. Study quality was assessed using the National Institutes of Health Quality Assessment Tool for Case Series Studies. RESULTS: In this systematic review of 31 studies and 3,850 patients, the overall p16 positivity was 13.6% (41 of 1,037 patients tested) with the highest proportion among oropharyngeal cancers (20.3%, 78 of 384 patients) and the overall HPV polymerase chain reaction positivity was 15.3% (542 of 3,548 samples tested) with the highest proportion among nasopharyngeal cancers (16.5%, 23 of 139 patients). Among the 369 HPV strains detected, the most common genotypes were HPV 16 (226 patients, 59.2%) and HPV 18 (78, 20.4%). CONCLUSION: HPV was found to be associated with a significant proportion of HNC in SSA. The genotypes reported suggest that the nine-valent vaccine and gender-neutral vaccination policies should be considered. Given that these studies may not accurately capture prevalence nor causation of HPV in HNC subsites, additional research is needed to provide a more thorough epidemiologic understanding of HPV-associated HNC in SSA, including risk factors and clinical outcomes.
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Neoplasias de Cabeça e Pescoço , Infecções por Papillomavirus , Estados Unidos , Humanos , Papillomavirus Humano , Infecções por Papillomavirus/diagnóstico , Infecções por Papillomavirus/epidemiologia , Infecções por Papillomavirus/prevenção & controle , Neoplasias de Cabeça e Pescoço/epidemiologia , Neoplasias de Cabeça e Pescoço/complicações , Papillomaviridae/genética , Fatores de RiscoRESUMO
Australia harbours a rich and highly endemic orchid flora with over 90% of native species found nowhere else. However, little is known about the assembly and evolution of Australia's orchid flora. Here, we used a phylogenomic approach to infer evolutionary relationships, divergence times and range evolution in Pterostylidinae (Orchidoideae), the second largest subtribe in the Australian orchid flora, comprising the genera Pterostylis and Achlydosa. Phylogenetic analysis of 75 plastid genes provided well-resolved and supported phylogenies. Intrageneric relationships in Pterostylis were clarified and monophyly of eight of 10 sections supported. Achlydosa was found to not form part of Pterostylidinae and instead merits recognition at subtribal level, as Achlydosinae. Pterostylidinae were inferred to have originated in eastern Australia in the early Oligocene, coinciding with the complete separation of Australia from Antarctica and the onset of the Antarctic Circumpolar Current, which led to profound changes in the world's climate. Divergence of all major lineages occurred during the Miocene, accompanied by increased aridification and seasonality of the Australian continent, resulting in strong vegetational changes from rainforest to more open sclerophyllous vegetation. The majority of extant species were inferred to have originated in the Quaternary, from the Pleistocene onwards. The rapid climatic oscillations during the Pleistocene may have acted as important driver of speciation in Pterostylidinae. The subtribe underwent lineage diversification mainly within its ancestral range, in eastern Australia. Long-distance dispersals to southwest Australia commenced from the late Miocene onwards, after the establishment of the Nullarbor Plain, which constitutes a strong edaphic barrier to mesic plants. Range expansions from the mesic into the arid zone of eastern Australia (Eremaean region) commenced from the early Pleistocene onwards. Extant distributions of Pterostylidinae in other Australasian regions, such as New Zealand and New Caledonia, are of more recent origin, resulting from long-distance dispersals from the Pliocene onwards. Temperate eastern Australia was identified as key source area for dispersals to other Australasian regions.
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OBJECTIVE: To investigate whether sluggish cognitive tempo (SCT) was associated with anxiety, depression, and academic performance (AP) in children with reading disorder (RD), and whether ADHD-Inattention (ADHD-IN) moderated these relationships. METHOD: Parents and teachers of children with RD (N = 147, ages 6-18) completed evaluations of SCT, ADHD, anxiety, depression, and AP, every 3 months for 18 months. Baseline and longitudinal associations between SCT and outcomes, and effect moderation of ADHD-IN, were assessed. RESULTS: Teacher-rated SCT was positively associated with teacher-rated anxiety (p < .001) and negatively associated with AP (p < .001) cross-sectionally and longitudinally, with significant effect modification by ADHD-IN for both outcomes. SCT was not associated with depression in adjusted cross-sectional and longitudinal analyses. There were no significant findings for any parent-reported measures. CONCLUSION: SCT has negative effects on anxiety and AP in children with RD among individuals with low ADHD-IN according to teacher report. Targeted treatment of SCT may provide substantial benefits.
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Desempenho Acadêmico , Transtorno do Deficit de Atenção com Hiperatividade , Dislexia , Adolescente , Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Criança , Cognição , Estudos Transversais , Dislexia/psicologia , Humanos , Estudos Longitudinais , Tempo Cognitivo LentoRESUMO
Prior studies have suggested that grit and resilience predict both academic and career success. However, these qualities have not been examined in children with reading disorder (RD). We therefore investigated whether grit and resilience were associated with anxiety, depression, academic performance, and quality of life (QOL) in these students. This 3-year longitudinal cohort study included 163 participants with RD from 3 schools. Evaluations were completed by parents and/or teachers every 3 months. The Grit and Resilience Scale was adapted from the 10-item Connor-Davidson Resilience Scale and the 12-item Grit Scale. Outcome measures included anxiety (School Anxiety Scale - Teacher Report and the 8-item Spence Children's Anxiety Scale), depression (Short Mood and Feelings Questionnaire), academic performance, and QOL (Pediatric QOL Inventory 4.0). Multivariate linear regression models (adjusting for age and sex) assessed the associations at baseline. Repeated measures analysis using mixed-effects models assessed the relationship longitudinally. There were statistically significant associations between grit and resilience and all outcomes at baseline and over time. After adjusting for age and sex, improved grit and resilience was associated with decreased anxiety (ß = - 0.4, p < 0.001) and improved academic performance (ß = 0.5, p < 0.001) when grit and resilience was measured by teachers, as well as decreased depression (ß = - 0.3, p < 0.001) and improved QOL (ß = 0.6, p < 0.001) when grit and resilience was measured by parents. Grit and resilience are significantly related to mental health, academic performance, and QOL in children with RD. This suggests that interventions to improve grit and resilience may lead to positive benefits.
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Dislexia , Qualidade de Vida , Criança , Estudos de Coortes , Humanos , Estudos Longitudinais , LeituraRESUMO
Importance: The US Department of Veterans Affairs (VA) offers programs that reduce barriers to care for veterans and those with housing instability, poverty, and substance use disorder. In this setting, however, the role that social and behavioral risk factors play in COVID-19 outcomes is unclear. Objective: To examine whether social and behavioral risk factors were associated with mortality among US veterans with COVID-19 and whether this association might be modified by race/ethnicity. Design, Setting, and Participants: This cohort study obtained data from the VA Corporate Data Warehouse to form a cohort of veterans who received a positive COVID-19 test result between March 2 and September 30, 2020, in a VA health care facility. All veterans who met the inclusion criteria were eligible to participate in the study, and participants were followed up for 30 days after the first SARS-CoV-2 or COVID-19 diagnosis. The final follow-up date was October 31, 2020. Exposures: Social risk factors included housing problems and financial hardship. Behavioral risk factors included current tobacco use, alcohol use, and substance use. Main Outcomes and Measures: The primary outcome was all-cause mortality in the 30-day period after the SARS-CoV-2 or COVID-19 diagnosis date. Multivariable logistic regression was used to estimate odds ratios, clustering for health care facilities and adjusting for age, sex, race, ethnicity, marital status, clinical factors, and month of COVID-19 diagnosis. Results: Among 27â¯640 veterans with COVID-19 who were included in the analysis, 24â¯496 were men (88.6%) and the mean (SD) age was 57.2 (16.6) years. A total of 3090 veterans (11.2%) had housing problems, 4450 (16.1%) had financial hardship, 5358 (19.4%) used alcohol, and 3569 (12.9%) reported substance use. Hospitalization occurred in 7663 veterans (27.7%), and 1230 veterans (4.5%) died. Housing problems (adjusted odds ratio [AOR], 0.96; 95% CI, 0.77-1.19; P = .70), financial hardship (AOR, 1.13; 95% CI, 0.97-1.31; P = .11), alcohol use (AOR, 0.82; 95% CI, 0.68-1.01; P = .06), current tobacco use (AOR, 0.85; 95% CI, 0.68-1.06; P = .14), and substance use (AOR, 0.90; 95% CI, 0.71-1.15; P = .41) were not associated with higher mortality. Interaction analyses by race/ethnicity did not find associations between mortality and social and behavioral risk factors. Conclusions and Relevance: Results of this study showed that, in an integrated health system such as the VA, social and behavioral risk factors were not associated with mortality from COVID-19. Further research is needed to substantiate the potential of an integrated health system to be a model of support services for households with COVID-19 and populations who are at risk for the disease.
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COVID-19/mortalidade , Habitação , Pandemias , Pobreza , Transtornos Relacionados ao Uso de Substâncias , Veteranos , Adulto , Idoso , Consumo de Bebidas Alcoólicas , COVID-19/etnologia , Estudos de Coortes , Etnicidade , Feminino , Pessoas Mal Alojadas , Humanos , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Razão de Chances , Grupos Raciais , Fatores de Risco , SARS-CoV-2 , Uso de Tabaco , Estados Unidos/epidemiologia , United States Department of Veterans AffairsAssuntos
Assistência Ambulatorial/métodos , Tratamento Farmacológico da COVID-19 , Seleção de Pacientes , Ensaios Clínicos Controlados Aleatórios como Assunto/métodos , Telemedicina/métodos , Antibacterianos/uso terapêutico , Arritmias Cardíacas , Azitromicina/uso terapêutico , Inibidores Enzimáticos/uso terapêutico , Humanos , Hidroxicloroquina/uso terapêutico , Medição de Risco , SARS-CoV-2 , Estados Unidos , United States Department of Veterans Affairs , VeteranosRESUMO
This systematic review evaluated the feasibility of implementing universal screening programs for postpartum mood and anxiety disorder (PMAD) among caregivers of infants hospitalized in the neonatal intensive care unit (NICU). Four moderate quality post-implementation cohort studies satisfied inclusion criteria (n = 2752 total participants). All studies included mothers; one study included fathers or partners. Screening included measures of depression and post-traumatic stress. Screening rates ranged from 48.5% to 96.2%. The incidence of depression in mothers ranged from 18% to 43.3% and was 9.5% in fathers. Common facilitators included engaging multidisciplinary staff in program development and implementation, partnering with program champions, and incorporating screening into routine clinical practice. Referral to mental health treatment was the most significant barrier. This systematic review suggests that universal PMAD screening in NICUs may be feasible. Further research comparing a wider range of PMAD screening tools and protocols is critical to address these prevalent conditions with significant consequences for parents and infants.
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Transtornos de Ansiedade , Unidades de Terapia Intensiva Neonatal , Transtornos de Ansiedade/diagnóstico , Transtornos de Ansiedade/epidemiologia , Cuidadores , Estudos de Viabilidade , Feminino , Humanos , Lactente , Recém-Nascido , Período Pós-PartoRESUMO
The purpose of this study was to examine the association between anxiety and overall academic performance (AP) in children with reading disorder (RD). This two-year longitudinal cohort study included 128 participants (aged 7-14 years) with RD. Anxiety symptoms were evaluated using the School Anxiety Scale - Teacher Report for the first year and the eight-item Spence Children's Anxiety Scale for the second year. AP was assessed by teacher ratings of progress in academic content areas, including reading, writing and math. Teachers completed evaluations every 3 months. We standardized all scores (to z scores). Multivariate linear regression models (adjusting for age, sex and Attention-Deficit/Hyperactivity Disorder symptoms) assessed the association cross-sectionally at each timepoint of survey completion. Repeated measures analysis using mixed models assessed the relationship longitudinally. Results from both univariate and multivariate analyses showed anxiety being significantly negatively associated with AP in children with RD, both cross-sectionally and longitudinally. Importantly, increased anxiety was significantly associated with reduced AP over time within an individual (adjusted ß = -0.22, p = .002). This lends support to screening for anxiety disorders in children with RD. Future research should examine the directionality of this relationship, potential mediators in the pathway and whether interventions to reduce anxiety increase AP.
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Desempenho Acadêmico , Transtorno do Deficit de Atenção com Hiperatividade , Dislexia , Ansiedade/epidemiologia , Transtornos de Ansiedade/epidemiologia , Transtorno do Deficit de Atenção com Hiperatividade/complicações , Criança , Estudos de Coortes , Humanos , Estudos LongitudinaisRESUMO
UCLA PEERS® for Adolescents is a widely applied program among a number of social skills training programs developed over the years. We synthesized current research evidence on the PEERS program to evaluate the treatment effect on four commonly used outcome measures. 12 studies met inclusion criteria for the review and nine met the criteria for meta-analysis. Results showed moderate to large pooled effects across measures and informants in favor of the PEERS program, with the largest effect seen in social knowledge improvement and the smallest effect in the frequency of get-togethers. The heterogeneity of effects across studies were examined and the limitations of the current evidence were discussed.
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Transtorno do Espectro Autista , Transtorno Autístico , Adolescente , Humanos , Grupo Associado , Habilidades SociaisRESUMO
Natural history collections are repositories of biodiversity and are potentially used by molecular ecologists for comparative taxonomic, phylogenetic, biogeographic and forensic purposes. Specimens in fish collections are preserved using a combination of methods with many fixed in formalin and then preserved in ethanol for long-term storage. Formalin fixation damages DNA, thereby limiting genetic analyses. In this study, the authors compared the DNA barcoding and identification success for frozen and formalin-fixed tissues obtained from specimens in the CSIRO Australian National Fish Collection. They studied 230 samples from fishes (consisting of >160 fish species). An optimized formalin-fixed, paraffin-embedded DNA extraction method resulted in usable DNA from degraded tissues. Four mini barcoding assays of the mitochondrial DNA (mtDNA) were characterized with Sanger and Illumina amplicon sequencing. In the good quality DNA (without exposure to formalin), up to 88% of the specimens were correctly matched at the species level using the cytochrome oxidase subunit 1 (COI) mini barcodes, whereas up to 58% of the specimens exposed to formalin for less than 8 weeks were correctly identified to species. In contrast, 16S primers provided higher amplification success with formalin-exposed tissues, although the COI gene was more successful for identification. Importantly, the authors found that DNA of a certain size and quality can be amplified and sequenced despite exposure to formalin, and Illumina sequencing provided them with greater power of resolution for taxa identification even when there was little DNA present. Overall, within parameter constraints, this study highlights the possibilities of recovering DNA barcodes for identification from formalin-fixed fish specimens, and the authors provide guidelines for when successful identification could be expected.
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Sistemas de Identificação Animal/métodos , Peixes/classificação , Peixes/genética , Formaldeído/química , Manejo de Espécimes/normas , Sistemas de Identificação Animal/normas , Animais , Austrália , Código de Barras de DNA Taxonômico , DNA Mitocondrial/genética , Complexo IV da Cadeia de Transporte de Elétrons/genética , Sequenciamento de Nucleotídeos em Larga Escala/normas , FilogeografiaRESUMO
Esophageal cancer (EC) is a leading cause of cancer morbidity and mortality in Africa. Despite the high burden of disease, optimal management strategies for EC in resource-constrained settings have yet to be established. This systematic review evaluates the literature on treatments for EC throughout Africa and compares the efficacy and safety of varying treatment strategies in this context (PROSPERO CRD42017071546). PubMed, Embase and African Index Medicus were searched for studies published on treatment strategies for EC in Africa from 1980 to 2020. Searches were supplemented by examining bibliographies of included studies and relevant conference proceedings. Methodological quality/risk of bias was assessed using the Cochrane Risk-of-Bias tool and the Newcastle-Ottawa Scale. Forty-six studies were included. Case series constituted the majority of studies: 13 were case series reporting on outcomes of esophagectomies, 17 on palliative luminal or surgical interventions, four on radiotherapy and three on concurrent chemoradiation. Nine randomized controlled trials were identified, of which four prospectively compared different treatment modalities (one investigating radiotherapy vs chemoradiation, three evaluating rigid plastic stents vs other treatments). This review summarizes the research on EC treatments in Africa published over the last four decades and outlines critical gaps in knowledge related to management in this context. Areas in need of further research include (a) evaluation of the safety and efficacy of neoadjuvant therapy in patients with locally advanced disease; (b) strategies to improve long-term survival in patients treated with definitive chemoradiation; and (c) the comparative effectiveness of modern palliative interventions, focusing on quality of life and survival as outcome measures.
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Neoplasias Esofágicas/terapia , Quimiorradioterapia , Neoplasias Esofágicas/psicologia , Esofagectomia , Humanos , Cuidados Paliativos , Garantia da Qualidade dos Cuidados de Saúde , Qualidade de VidaRESUMO
Background: Musculoskeletal (MSK) problems are common, yet many primary care (PC) providers feel inadequately trained to manage these conditions. Previous studies describe successful MSK educational innovations at single sites, but none have reported on subsequent attempts to replicate or adapt these innovations to new contexts. This article presents a study of a national Veterans Affairs MSK training program modified to fit an existing PC educational program.Objectives: (1) To evaluate the effectiveness and feasibility of an adapted MSK curriculum in a new context. (2) To provide a model for adaptation studies in health professions education.Design: A national MSK shoulder and knee curriculum was adapted for San Francisco VA PC trainees, which included a small-group workshop and workplace learning within a newly-created MSK clinic. Effectiveness was evaluated by assessments of trainee confidence in exam and injection skills (via 5-point Likert scale) and faculty-observed performance of knee and shoulder exams (reported as percent of maximum possible score). Feasibility was evaluated by determining acceptability of the program to PC trainees (via 5-point Likert scale) and ability to implement the curriculum using local resources.Results: 52 trainees completed the training during a 2-year period. Trainees' confidence in MSK exam skills improved from 3.3 to 4.5 for shoulder, and from 3.5 to 4.6 for knee. Confidence performing joint injections improved from 2.6 to 4.2 (shoulder) and 2.5 to 4.5 (knee) (p < 0.001 for all). Observed performance improved markedly - from 50% to 92% for shoulder, and 57% to 90% for knee. Feasibility was evident in high acceptability (5.0 for MSK clinic, and 4.9 for workshops), and successful and sustained implementation.Conclusions: Adapting an established MSK curriculum to a new context was effective and feasible. This may serve as a more efficient model for improving trainee education than de novo curriculum design at individual sites.
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Educação Médica/organização & administração , Medicina Geral/educação , Doenças Musculoesqueléticas/fisiopatologia , Competência Clínica , Currículo , Estudos de Viabilidade , Humanos , Atenção Primária à Saúde , São Francisco , Estados Unidos , United States Department of Veterans AffairsRESUMO
Prior studies have documented a lower quality of life (QOL) in children with autism spectrum disorder (ASD) compared to typically developing peers, but few studies have examined the trajectory of QOL over time in the same population. We conducted a 2-year cohort study in 29 children attending a specialized school for ASD with quarterly measures of parent-rated QOL as well as parent and teacher measures of behavior and social skills to determine the trajectory of change in QOL and predictors of change. The average change in QOL was constant (no change over time), but there was substantial variation with some students showing significant gains and others showing declines. Exploratory analyses revealed that improvements in behavior and social skills were greater (nonsignificantly) among children with improvements in QOL. Children with improved QOL were also younger and had a lower initial symptom burden. This study suggests that early intervention programs that provide social skills and behavioral management strategies may improve QOL in children with ASD. The study also highlights the need to develop and study novel, qualitative measures of QOL in this population.
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Transtorno do Espectro Autista/fisiopatologia , Transtorno do Espectro Autista/psicologia , Transtorno do Espectro Autista/reabilitação , Educação Inclusiva , Avaliação de Resultados em Cuidados de Saúde , Qualidade de Vida , Adolescente , Terapia Comportamental , Criança , Intervenção Educacional Precoce , Feminino , Seguimentos , Humanos , Masculino , Instituições Acadêmicas , Comportamento Social , Habilidades SociaisRESUMO
Genetic white matter disorders have heterogeneous etiologies and overlapping clinical presentations. We performed a study of the diagnostic efficacy of genome sequencing in 41 unsolved cases with prior exome sequencing, resolving an additional 14 from an historical cohort (n = 191). Reanalysis in the context of novel disease-associated genes and improved variant curation and annotation resolved 64% of cases. The remaining diagnoses were directly attributable to genome sequencing, including cases with small and large copy number variants (CNVs) and variants in deep intronic and technically difficult regions. Genome sequencing, in combination with other methodologies, achieved a diagnostic yield of 85% in this retrospective cohort.
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Leucoencefalopatias/diagnóstico , Leucoencefalopatias/genética , Sistema de Registros , Sequenciamento Completo do Genoma , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Leucoencefalopatias/patologia , Masculino , LinhagemRESUMO
OBJECTIVE: Women with schizophrenia appear to receive breast cancer diagnoses at later stages of the disease compared with the general population. To study this disparity, this report reviewed and quantified the differences in rates of mammography screening for women with schizophrenia and other psychotic disorders compared with the general population. METHODS: A systematic literature search was conducted in PubMed, Embase, Web of Science, and PsycINFO databases. Each database was searched from inception to September 14, 2018. The search strategy included search terms for breast cancer, mammography, schizophrenia, and psychosis. Two reviewers independently screened and evaluated eligible studies. The main outcome measure was the rate of mammography screening among women with schizophrenia and psychotic disorders versus a comparable population of women without these diagnoses. Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines were used for abstracting data, and the Newcastle-Ottawa Scale was used for assessing data quality. A meta-analysis with a random-effects model was performed. RESULTS: From a total of 304 abstracts reviewed, 11 studies met the inclusion criteria, representing 25,447 women with diagnoses of schizophrenia or psychosis across four countries. The meta-analysis showed that women with schizophrenia were less likely than women without schizophrenia to receive mammography screening (pooled OR=0.50, 95% confidence interval=0.38-0.64, p<0.001). In subgroup analysis, this association was not significantly affected by quality of the study. CONCLUSIONS: Women with schizophrenia and other psychotic disorders were about half as likely as the general population to receive mammography screening. Further research is needed to determine causes of this disparity.