Blakemore

OBJECTIVE: The goal of this study was to review and analyze the medical literature for cases of prenatal and/or postnatally diagnosed bilateral renal agenesis (BRA) and create a comprehensive summary of the genetic etiologies known to be associated with this condition. METHODS: A literature search was conducted as a scoping review employing Online Mendeliain Inheritance in Man, PubMed, and Cochrane to identify cases of BRA with known underlying genetic (chromosomal vs...

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INTRODUCTION: Alcohol use disorders are heritable, with genetic factors predicting approximately 50% of the risk. Returning information about genetic risk could promote avoidance of alcohol, reducing alcohol use disorder risk. This study explored attitudes toward a precision prevention model of alcohol use disorder targeting adolescents. METHODS: This study conducted interviews with adolescents and adults to explore attitudes about precision prevention of alcohol use disorders...

Bladder exstrophy epispadias complex (BEEC) encompasses a spectrum of conditions ranging from mild epispadias to the most severe form: omphalocele-bladder exstrophy-imperforate anus-spinal defects (OEIS). BEEC involves abnormalities related to anatomical structures that are proposed to have a similar underlying etiology and pathogenesis. In general, BEEC, is considered to arise from a sequence of events in embryonic development and is believed to be a multi-etiological disease with contributions from genetic and environmental factors...

Acute myeloid leukemia (AML) with the high-risk variant inv(3)/t(3;3) or t(3;3)(q21;26.2) is rarely seen in the pediatric and young adult population. It is associated with poor outcomes with ineffective therapeutic options. Here, we present a case of an 18-year-old female with treatment refractory inv(3) AML in whom remission was unable to be obtained. Better treatment options are needed given the increased resistance to traditional therapy this subtype portrays. Here, we review the literature on pediatric and young adult inv(3) AML along with newer therapeutic options...

AEF: aorto-oesophageal fistula;BB: button battery;CTA: computed tomography angiography;ER: emergency room;GI: gastro-intestinal;SBT: Sengstaken-Blakemore tube.

PURPOSE: To evaluate live birth rates (LBRs) for in vitro fertilization (IVF) cycles with ≤5 follicles at trigger, with the goal of helping patients with low follicle counts decide whether to proceed to retrieval. METHODS: This is a retrospective cohort study from an urban, university-affiliated fertility center. All IVF cycles that yielded <10 oocytes between 2016 and 2020 were reviewed. Cycles were included if <5 follicles measuring >14 mm were verified on trigger day...

BACKGROUND: Severe adolescent idiopathic scoliosis (AIS) can be treated with instrumented fusion, but the number of anchors needed for optimal correction is controversial. METHODS: We conducted a multicenter, randomized study that included patients undergoing spinal fusion for single thoracic curves between 45° and 65°, the most common form of operatively treated AIS. Of the 211 patients randomized, 108 were assigned to a high-density screw pattern and 103, to a low-density screw pattern...

STUDY QUESTION: What structural (logistical) and psychological challenges do patients who cryopreserve oocytes or embryos for medical reasons face, including possible barriers to using their frozen materials? SUMMARY ANSWER: The majority of women who underwent oocyte or embryo cryopreservation for medical reasons reported a desire to use their frozen oocytes or embryos but had been impeded by ongoing medical issues, the need for a gestational carrier, or the lack of a partner...

Random-Intercept Cross-Lagged Panel Models allow for the decomposition of measurements into between- and within-person components and have hence become popular for testing developmental hypotheses. Here, we describe how developmental researchers can implement, test and interpret interaction effects in such models using an empirical example from developmental psychopathology research. We illustrate the analysis of Within × Within and Between × Within interactions utilising data from the United Kingdom-based Millennium Cohort Study within a Bayesian Structural Equation Modelling framework...

Adolescence is a sensitive period for categorical self-concept development, which affects the ability to take others' perspectives, which might differ from one's own, and how self-related information is memorized. Little is known about whether these two processes are related in adolescence. The current study recruited 97 male participants aged 11-35 years. Using a self-referential memory task, we found that younger participants were less prone to recognize previously seen town-related adjectives, compared to self-related adjectives...

OBJECTIVE: Adolescence is a key developmental window that may determine long-term mental health. As schools may influence mental health of students, this study aimed to examine the association of school-level characteristics with students' mental health over time. METHOD: Longitudinal data from a cluster randomized controlled trial comprising 8,376 students (55% female; aged 11-14 years at baseline) across 84 schools in the United Kingdom were analyzed. Data collection started in the academic years 2016/2017 (cohort 1) and 2017/2018 (cohort 2), with follow-up at 1, 1...

OBJECTIVES: Delayed bleeding is a rare but important major adverse event (mAE) after endoscopic submucosal tunneling procedures (ESTP), which is scarcely reported. We aimed to characterize the clinical characteristics of delayed bleeding and provide better management of this mAE. METHOD: From August 2010 to October 2022, we reviewed 3852 patients with achalasia receiving peroral endoscopic myotomy (POEM) and 1937 patients with upper gastrointestinal tumors receiving submucosal tunneling endoscopic resection (STER)...

Given well-established links between socio-economic adversity and mental health, it is unsurprising that young people's mental health is deteriorating amidst economic crises. The World Health Organisation (WHO) recognises mental health as "crucial to personal, community, and socio-economic development" and outlines goals to reshape environments such as schools to protect mental health. Schools offer an ideal setting to promote wellbeing and prevent mental ill-health during a key developmental window. We describe how social inequalities present a challenge to designing school-based interventions for prevention and promotion for mental health and wellbeing, and suggest priorities to aid and evaluate their effectiveness...

BACKGROUND: Several observational studies indicate that dietary habits in children and adolescents are associated with school performance. These associations are heavily confounded by socio-economic characteristics, such as household income and parents' educational attainment, amongst other factors. The objective of this study was to explore the association between diet and school performance in adolescents from the Northern Finland Birth Cohort 1986 (NFBC1986). METHODS: Dietary and school performance data were collected using self-reported questionnaires from adolescents in the NFBC1986 cross-sectional, 16-year follow-up study...

IMPORTANCE: As young people's mental health difficulties increase, understanding risk and resilience factors under challenging circumstances becomes critical. OBJECTIVE: To explore the outcomes of the COVID-19 pandemic on secondary school students' mental health difficulties, as well as the associations with individual, family, friendship, and school characteristics. DESIGN, SETTING, AND PARTICIPANTS: For this cohort study, follow-up data from the My Resilience in Adolescence (MYRIAD) cluster randomized clinical trial were collected across 2 representative UK cohorts...

The coupling of carboxylic acids and amines to form amide linkages is the most commonly performed reaction in the pharmaceutical industry. Herein, we report a new strategy that merges these traditional amide coupling partners to generate sulfonamides, important amide bioisosteres. This method leverages copper ligand-to-metal charge transfer (LMCT) to convert aromatic acids to sulfonyl chlorides, followed by one-pot amination to form the corresponding sulfonamide. This process requires no prefunctionalization of the native acid or amine and extends to a diverse set of aryl, heteroaryl, and s -rich aliphatic substrates...

The 2,2'-bipyridyl-6,6'-dicarboxylate ligand ( bdc ) has been shown in prior work to effectively capture the uranyl(VI) ion, UO2 2+ , from aqueous solutions. However, the redox properties of the uranyl complex of this ligand have not been addressed despite the relevance of uranium-centered reduction to the nuclear fuel cycle and the presence of a bipyridyl core in bdc , a motif long recognized for its ability to support redox chemistry. Here, the bdc complex of UO2 2+ ( 1-UO 2 ) has been synthetically prepared and isolated under nonaqueous conditions for the study of its reductive chemical and electrochemical behavior...

PURPOSE: To evaluate pre-implantation genetic testing for aneuploidy (PGT-A) outcomes in patients without infertility compared to infertile patients. METHODS: We performed a retrospective cohort study of all patients without an infertility diagnosis ("fertile" patients) who utilized PGT-A at a large university-affiliated fertility center between 2016 and 2021. Fertile patients were 1-to-3 matched to infertile controls by age and number of oocytes retrieved. The primary outcome was blastocyst aneuploidy rate...

PURPOSE: Our aim was to describe the reproductive decisions and outcomes of BRCA-positive patients who used preimplantation genetic testing for monogenic disorders (PGT-M). METHODS: We performed a retrospective case series of all PGT-M cycles for BRCA variants between 2010-2021 at a large urban academic fertility center. All patients who underwent ≥ 1 cycle of IVF with PGT-M for BRCA1 or BRCA2 were included. The primary outcome was total number of BRCA-negative euploid embryos per patient...