Early Release Science of the exoplanet WASP-39b with JWST NIRSpec PRISM.

Transmission spectroscopy1-3 of exoplanets has revealed signatures of water vapour, aerosols and alkali metals in a few dozen exoplanet atmospheres4,5. However, these previous inferences with the Hubble and Spitzer Space Telescopes were hindered by the observations' relatively narrow wavelength range and spectral resolving power, which precluded the unambiguous identification of other chemical species-in particular the primary carbon-bearing molecules6,7. Here we report a broad-wavelength 0.5-5.5 µm atmospheric transmission spectrum of WASP-39b8, a 1,200 K, roughly Saturn-mass, Jupiter-radius exoplanet, measured with the JWST NIRSpec's PRISM mode9 as part of the JWST Transiting Exoplanet Community Early Release Science Team Program10-12. We robustly detect several chemical species at high significance, including Na (19σ), H2O (33σ), CO2 (28σ) and CO (7σ). The non-detection of CH4, combined with a strong CO2 feature, favours atmospheric models with a super-solar atmospheric metallicity. An unanticipated absorption feature at 4 µm is best explained by SO2 (2.7σ), which could be a tracer of atmospheric photochemistry. These observations demonstrate JWST's sensitivity to a rich diversity of exoplanet compositions and chemical processes.

Evolution of a local adolescent breast imaging service.

BACKGROUND: The pathway for paediatric patients (<18 years) with breast-related symptoms from primary care has evolved in recent years within our region. Historically patients were managed at their local site within the region with varied management approaches, including young patients undergoing potentially unnecessary breast biopsies, and timelines adopted. In 2020, the establishment of a dedicated paediatric breast clinic enabled a smoother referral process from primary care, an appropriate clinical setting for the patient population and a standardised management pathway. METHODS: A retrospective review was performed of patients aged between 9 and 18 years referred to the breast service between 2017 and 2022. We reviewed the trends in referral numbers over the years, referral indications, ultrasound findings and clinical outcomes. RESULTS: There has been a yearly increment in the number of patients referred, primarily driven by the 15-18 age group. The primary referral indication was a breast lump (52%), gynaecomastia (14%), abscess (9%), and breast pain (6%). The most prevalent ultrasound findings were a normal breast (41%) and a fibroadenoma (25%). Of patients presenting with a breast lump, 40% demonstrated a normal ultrasound and 46% fibroadenomas. Conservative management was opted for the majority of patients with simple fibroadenomas and gynaecomastia. An unusual case of dermatofibrosarcoma protruberans was identified, stressing the importance of prompt surgical review for rapidly growing masses. DISCUSSION: The new clinic structure has optimized under-18 patient care, reducing unnecessary interventions and alleviating pressure on adult breast units. We propose a management pathway that can be adopted at a local/regional level.

Barriers and Translational Solutions to Improving Community Living Outcomes among People of Color with Disabilities with Opioid Use Disorder: A Focus Group Perspective.

This investigation examined vocational rehabilitation, substance abuse, and mental health service providers' perceptions about barriers and potentially translational solutions to poor community living outcomes for people of color with disabilities (i.e., African Americans, Latinx, Native Americans and Alaskan Natives, Asian Americans, and Pacific islanders) who have opioid use disorder. We conducted one focus group discussion (N = 12) that identified the proliferation of opioids in the community, treatment access, employment, and transportation as community living outcome barriers. The findings point to the need for further research that address poor outcomes among target group members.

Penetrating Colon Trauma-the Effect of Injury Location on Outcomes.

BACKGROUND: There is limited evidence to suggest that the more distal a penetrating colonic injury, the poorer its expected outcome, prompting consideration of diversion rather than anastomosis when faced with left colonic injury. The clinical outcomes of penetrating colonic trauma in relation to their anatomical location within the colon were reviewed. METHODS: A review was performed over eight years (2012-2020) of all patients over 18 years who had sustained penetrating colon injury and presented to our trauma centre in South Africa. Direct comparison was made between right colon vs left colon injuries. RESULTS: A total of 450 patients were included; right colon: 260, left colon: 190. Gunshots predominated in the right colon, and the PATI was higher in this group. There were minimal differences in admission physiology and blood gas parameters between groups, but higher damage control surgery and ICU admission rates for the right colon group. There were similar rates of primary repair, anastomosis, and stoma between groups. Leak rates were no different between the two groups, and although overall complication rates were higher for the right colon, there was no difference with regard to gastro-intestinal and other complications, nor for mortality. While regression analysis did identify PATI to be a risk factor for overall complications and mortality, it failed to do so for anastomotic leak. CONCLUSION: Our study did not demonstrate any difference in anastomotic leak rates or mortality between right vs left colonic injury. We recommend that all colonic injuries should be treated on their own merit, balanced against the patient's condition, regardless of anatomical location within the colon.

Factors in Utilization of Telehealth Treatment by Rural African-Americans with Opioid Use Disorder and Disabilities.

This study explored factors that impact telehealth service utilization for treatment of African Americans with disabilities with opioid use disorder in rural communities. A focus group was conducted involving 12 different mental health, substance use, and rehabilitation counseling professionals. The analysis was completed using NVivo (Version 12). The results identified critical barriers that included historical distrust of technology and healthcare systems, digital divide/unavailability of Internet modems, fear of losing confidentiality, and agency non-approval. The benefits were improved communication, reduction of stigma, continuity of care, and convenience of collaboration. The findings indicate the need for additional research in this topic area.

Assistive Technology Workplace Accommodation and Employment among Diverse Populations with Disabilities: Does Race/Ethnicity Matter?

The purpose of this study was to examine the relationship between assistive technology workplace accommodation (AT-WA) usage and employment status among racial/ethnic populations with disabilities. Chi-square tests and logistic regression were used to analyze secondary data from the 2015 Kessler Foundation National Employment and Disability Survey (KFNEDS). Results indicated that significantly more consumers who used AT-WA were currently working, and a significantly greater proportion of them were White. Moreover, a significantly lower proportion of those who did not use AT-WA had less expected odds of being currently employed. Specific implications are discussed to inform practices, policy, and/or future research.

Community Living Outcome Factors for People of Color with Disabilities and Concomitant Opioid Use Disorder: A Scoping Review.

This scoping review mapped the pertinent extant published and grey literature and policy to assess factors that promote positive community living outcomes among people of color with disabilities and concomitant opioid use disorder (OUD) in the United States (U.S.). Forty-three publications covering OUD and people of color with disabilities and people of color with disabilities and community living content were reviewed. Select community living barriers and potential interventions were identified for people of color with disabilities in general; however, the review failed to classify such factors for those with OUD. Authors offered recommendations for practice, research, and policy.

Clinical features may help to identify children and adolescents with greatest risk for thyroid nodules.

BACKGROUND: Thyroid nodules (TN) are detected in a small number of asymptomatic children and adolescents but are more frequently malignant (22-26%) than in adults leading some clinicians to perform thyroid ultrasound (US) for all children with goiter or autoimmune thyroiditis (AIT). Our study was designed to determine if suspicious clinical features predict the presence of TN in children with goiter or AIT so that US could be performed on those at highest risk. METHODS: This was a retrospective review of 223 children and adolescents with goiter or AIT evaluated at a single institution. US was not performed on all patients. It is our practice to define glands that are large, firm, or nodular to palpation as "suspicious". Suspicious glands were interrogated by US and if TN was confirmed, this was further evaluated by fine-needle aspiration followed by surgery if indicated. RESULTS: The median age was 12.9 years with 74.4% female. TN were confirmed by US in 16.6% of all patients but only 4.8% of those with AIT. By univariate analysis, TN were more common in those with family history of TN or differentiated thyroid carcinoma (DTC), thyroid asymmetry, and lower thyrotropin (TSH) levels. Differentiated thyroid carcinoma (DTC) was identified in 10.8% of TN and 1.8% of all patients. Firmness was significantly more common in patients with DTC (p = 0.0013). CONCLUSION: TN were less common in those with AIT than reported in previous studies, suggesting that clinical features might fail to identify the majority of TN in patients with AIT. However, patients with asymmetric thyroid and a family history of TN or DTC have greatest risk for TN.

The advantages of UK Biobank's open-access strategy for health research.

Ready access to health research studies is becoming more important as researchers, and their funders, seek to maximize the opportunities for scientific innovation and health improvements. Large-scale population-based prospective studies are particularly useful for multidisciplinary research into the causes, treatment and prevention of many different diseases. UK Biobank has been established as an open-access resource for public health research, with the intention of making the data as widely available as possible in an equitable and transparent manner. Access to UK Biobank's unique breadth of phenotypic and genetic data has attracted researchers worldwide from across academia and industry. As a consequence, it has enabled scientists to perform world-leading collaborative research. Moreover, open access to an already deeply characterized cohort has encouraged both public and private sector investment in further enhancements to make UK Biobank an unparalleled resource for public health research and an exemplar for the development of open-access approaches for other studies.

A Novel Homozygous Deletion within the FRY Gene Associated with Nonsyndromic Developmental Delay.

The role of autosomal recessive (AR) variants in clinically heterogeneous conditions such as intellectual disability and developmental delay (ID/DD) has been difficult to uncover. Implication of causative pathogenic AR variants often requires investigation within large and consanguineous families, and/or identifying rare biallelic variants in affected individuals. Furthermore, detection of homozygous gene-level copy number variants during first-line genomic microarray testing in the pediatric population is a rare finding. We describe a 6.7-year-old male patient with ID/DD and a novel homozygous deletion involving the FRY gene identified by genomic SNP microarray. This deletion was observed within a large region of homozygosity on the long arm of chromosome 13 and in a background of increased low-level (2.6%) autosomal homozygosity, consistent with a reported common ancestry in the family. FRY encodes a protein that regulates cell cytoskeletal dynamics, functions in chromosomal alignment in mitosis in vitro, and has been shown to function in the nervous system in vivo. Homozygous mutation of FRY has been previously reported in 2 consanguineous families from studies of autosomal recessive ID in Middle Eastern and Northern African populations. This report provides additional supportive evidence that deleterious biallelic mutation of FRY is associated with ID/DD and illustrates the utility of genomic SNP microarray detection of low-level homozygosity.

Tremella saccharicola f.a., sp. nov., a novel tremellaceous yeast species isolated from tropical regions.

Ten strains representing a single anamorphic novel yeast species were isolated from the external surface (DMKU-SP23 and DMKU-SP40) and tissue (DMKU-SE89, DMKU-SE99, DMKU-SE100 and DMKU-SE147) of sugarcane leaves in Thailand, and phylloplane (IMUFRJR 52034) and rhizoplane (IMUFRJ 52036 and 52037) of sugarcane and associated soil (IMUFRJ 52035) in Brazil. These strains showed zero to two nucleotide substitutions in the sequences of the D1/D2 region of the LSU rRNA gene and zero to three nucleotide substitutions in the internal transcribed spacer (ITS) region. Tremella globispora was the most closely related species, but with 1.7-2.1 % nucleotide substitutions in the D1/D2 region of the LSU rRNA gene, and 5.3-6.0 % nucleotide substitutions in the ITS region. Phylogenetic analysis based on the concatenated sequences of the ITS and the D1/D2 regions showed that these 10 strains represented a single species belonging to the genus Tremella (class Tremellomycetes, subphylum Agaricomycotina) that was distinct from related species. They therefore represented a novel species of the genus Tremella although the formation of basidia and basidiocarp were not observed. The name Tremella saccharicola f.a., sp. nov. is proposed. The type strain is DMKU-SP23T (=NBRC 109698T=BCC 61186T).

Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar.

Conflict resolution in genomic variant interpretation is a critical step toward improving patient care. Evaluating interpretation discrepancies in copy number variants (CNVs) typically involves assessing overlapping genomic content with focus on genes/regions that may be subject to dosage sensitivity (haploinsufficiency (HI) and/or triplosensitivity (TS)). CNVs containing dosage sensitive genes/regions are generally interpreted as "likely pathogenic" (LP) or "pathogenic" (P), and CNVs involving the same known dosage sensitive gene(s) should receive the same clinical interpretation. We compared the Clinical Genome Resource (ClinGen) Dosage Map, a publicly available resource documenting known HI and TS genes/regions, against germline, clinical CNV interpretations within the ClinVar database. We identified 251 CNVs overlapping known dosage sensitive genes/regions but not classified as LP or P; these were sent back to their original submitting laboratories for re-evaluation. Of 246 CNVs re-evaluated, an updated clinical classification was warranted in 157 cases (63.8%); no change was made to the current classification in 79 cases (32.1%); and 10 cases (4.1%) resulted in other types of updates to ClinVar records. This effort will add curated interpretation data into the public domain and allow laboratories to focus attention on more complex discrepancies.

Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

PURPOSE: Chromosomal microarray (CMA) is recommended as the first-tier test in evaluation of individuals with neurodevelopmental disability and congenital anomalies. CMA may not detect balanced cytogenomic abnormalities or uniparental disomy (UPD), and deletion/duplications and regions of homozygosity may require additional testing to clarify the mechanism and inform accurate counseling. We conducted an evidence review to synthesize data regarding the benefit of additional testing after CMA to inform a genetic diagnosis. METHODS: The review was guided by key questions related to the detection of genomic events that may require additional testing. A PubMed search for original research articles, systematic reviews, and meta-analyses was evaluated from articles published between 1 January 1983 and 31 March 2017. Based on the key questions, articles were retrieved and data extracted in parallel with comparison of results and discussion to resolve discrepancies. Variables assessed included study design and outcomes. RESULTS: A narrative synthesis was created for each question to describe the occurrence of, and clinical significance of, additional diagnostic findings from subsequent testing performed after CMA. CONCLUSION: These findings may be used to assist the laboratory and clinician when making recommendations about additional testing after CMA, as it impacts clinical care, counseling, and diagnosis.

Why Public Health Researchers Should Consider Using Disability Data from the American Community Survey.

The United States (US) federal government allocates hundreds of billions of dollars to provide resources to Americans with disabilities, older adults, and the poor. The American Community Survey (ACS) influences the distribution of those resources. The specific aim of the project is to introduce health researchers to Public Use Microdata Sample file from 2009 to 2011. The overall goal of our paper is to promote the use of ACS data relevant to disability status. This study provides prevalence estimates of three disability related items for the population at or over the age of 15 years who reside in one of the continental states. When population weights are applied to the 7,198,221 individuals in the sample under analysis, they are said to represent 239,641,088 of their counterparts in the US population. Detailed tabulations by state (provided as Microsoft Excel® spreadsheets in ACS output) clearly show disability prevalence varies from state-to-state. Because analyses of the ACS data have the ability to influence resources aiding individuals with physical mobility challenges, its use should be promoted. Particular attention should be given to monetary allocations which will improve accessibility of the existing built environment for the individuals with mobility impairment.

Novel COL4A2 variant in a large pedigree: Consequences and dilemmas.

Pathogenic COL4A2 variants cause abnormalities in collagen production and can have serious implications for a range of organ systems, most notably the brain. Herein, we describe a large family of first-degree relatives affected by a novel heterozygous variant in COL4A2 (c.3490G.A). A wide disease spectrum is described, from asymptomatic to symptomatic, including 2 children with porencephaly and co-existing juvenile idiopathic polyarthritis. During a subsequent pregnancy, antenatal testing identified a positive fetus. In view of the literature, we review management and genetic counselling dilemmas.

Electrophysiologically identified piriformis syndrome is successfully treated with incobotulinum toxin a and physical therapy.

INTRODUCTION: Piriformis syndrome is entrapment of the sciatic nerve by the piriformis muscle. METHODS: In this article we describe a 56-person randomized, double-blind, controlled study involving physical therapy and incobotulinum toxin A or placebo. Inclusion criteria were 3-SD delay of posterior tibial (PT) or fibular (FN) H-reflexes on flexion, adduction, and internal rotation (FAIR) testing, and normal paraspinal electromyographic findings. Outcome measures included adverse side effects, visual analog scale (VAS) findings, and H-reflex delay on the FAIR test. RESULTS: Mean intervention VAS score decreased significantly more compared with placebo at 2, 4, 6, 8, 10, and 12 weeks post-injection (P < 0.0001). FAIR test scores for PT, but not FN, decreased significantly more compared with placebo at 2, 4, 6, and 8 weeks post-injection (PT: P = 0.038, 0.003, 0.003, and 0.046). Adverse effects were minimal. VAS slope and PT FAIR test results varied significantly (P < 0.0001). CONCLUSION: Incobotulinum toxin A chemodenervation may be useful for treating piriformis syndrome as identified by the FAIR test. Muscle Nerve 56: 258-263, 2017.

Occultifur plantarum f.a., sp. nov., a novel cystobasidiomycetous yeast species.

Nine strains representing a single anamorphic novel yeast species in dispersed tropical and subtropical habitats were isolated from sugarcane leaf tissue (DMKU-SE24, DMKU-SE45T, DMKU-SE129 and DMKU-SE134) and corn leaf tissue (DMKU-CE36) in Thailand, phylloplane and rhizoplane of sugarcane in Brazil (IMUFRJ 52018 and IMUFRJ 52019), bromeliad leaf tissue in Brazil (IMUFRJ 51954) and plant leaf in Japan (IPM31-24). These strains showed identical or only 1 nt substitution in the sequences of the D1/D2 region of the LSU rRNA gene and 0-5 nt substitutions in the internal transcribed spacer (ITS) region. Phylogenetic analysis based on the combined sequences of the ITS and the D1/D2 regions showed that the eight of these strains represented a single species in the genus Occultifur that was distinct from related species. Occultifur kilbournensis was the most closely related species, but with 0.9-1.2 % nucleotide substitutions in the D1/D2 region of the LSU rRNA gene, and 2.4-2.6 % nucleotide substitutions in the ITS region. They are therefore considered to represent a novel species of the genus Occultifur although the formation of basidia was not observed. The name Occultifur plantarum f.a., sp. nov. is proposed. The type strain is DMKU-SE45T (=CBS 14554T=TBRC 6561T).

Australian adolescents' beliefs and help-seeking intentions towards peers experiencing symptoms of depression and alcohol misuse.

BACKGROUND: Many young people are reluctant to seek professional help for mental health problems, preferring to rely on their friends for support. It is therefore important to ensure that adolescents can identify signs of psychological distress in their peers, talk to them about these, and help them access appropriate services when necessary. The current study examined adolescents' ability to recognise symptoms of depression and alcohol misuse, perceived barriers to help-seeking, and their intentions to encourage a peer to seek help from a range of informal and formal help sources. METHOD: The current study used baseline data from a randomised controlled trial of a school-based intervention that teaches adolescents how to overcome barriers to accessing professional help for mental health and substance use problems (MAKINGtheLINK). Participants (n = 2456) were presented with two vignettes portraying depression and alcohol misuse, respectively, and were asked to identify the problems described. Participants provided data on their past help-seeking behaviour, confidence to help a peer, perceived barriers to help-seeking, and intentions to encourage a peer to seek help. RESULTS: Health professionals were the main source of help that participants had relied on for depressive symptoms, followed by friends and parents. In contrast, friends were the main source of help that participants had relied on for alcohol and other drug problems, followed by health professionals and parents. Just over half of the sample correctly identified the problems described in the two vignettes, although the majority of participants were confident that they could talk to a peer and help them seek professional help if needed. Most agreed that the vignettes described problems that warranted professional help, however approximately half the sample was unsure or considered it unlikely that they would seek help if they experienced similar problems. For both disorders, participants were most likely to encourage a peer to seek help from their family, followed by formal help sources and friends. CONCLUSIONS: While the results point towards a greater willingness to approach formal help sources, particularly for depression, peers remain an important source of support for young people experiencing mental health and substance use problems.

Study protocol: families and childhood transitions study (FACTS) - a longitudinal investigation of the role of the family environment in brain development and risk for mental health disorders in community based children.

BACKGROUND: Extant research has demonstrated that parenting behaviour can be a significant contributor to the development of brain structure and mental health during adolescence. Nonetheless, there is limited research examining these relationships during late childhood, and particularly in the critical period of brain development occurring between 8 and 10 years of age. The effects of the family environment on the brain during late childhood may have significant implications for later functioning, and particularly mental health. The Families and Childhood Transitions Study (FACTS) is a multidisciplinary longitudinal cohort study of brain development and mental health, with two waves of data collection currently funded, occurring 18-months apart, when child participants are aged approximately 8- and 10-years old. METHODS/DESIGN: Participants are 163 children (M age [SD] = 8.44 [0.34] years, 76 males) and their mothers (M age [SD] = 40.34 [5.43] years). Of the 163 families who consented to participate, 156 completed a video-recorded and observer-coded dyadic interaction task and 153 completed a child magnetic resonance imaging brain scan at baseline. Families were recruited from lower socioeconomic status (SES) areas to maximise rates of social disadvantage and variation in parenting behaviours. All experimental measures and tasks completed at baseline are repeated at an 18-month follow-up, excluding the observer coded family interaction tasks. The baseline assessment was completed in October 2015, and the 18-month follow up will be completed May 2017. DISCUSSION: This study, by examining the neurobiological and mental health consequences of variations in parenting, has the potential to significantly advance our understanding of child development and risk processes. Recruitment of lower SES families will also allow assessment of resilience factors given the poorer outcomes often associated with this population.