Cytogenetic Patterns, Congenital Heart Disease, and Thyroid Dysfunction in Children with Down Syndrome.

Objectives: To study the cytogenetic patterns, congenital heart disease, and thyroid dysfunction in children with Down syndrome.

Study Design: This was a retrospective observational study of children with Down syndrome over a period of 20 years, from a major referral institution in Kerala state, South India. The cytogenetic patterns, echocardiography reports, and thyroid profiles were analyzed using SPSS, version 20, software.

Wire- and magnetic-seed-guided localization of impalpable breast lesions: iBRA-NET localisation study.

Background: Wire localization is historically the most common method for guiding excision of non-palpable breast lesions, but there are limitations to the technique. Newer technologies such as magnetic seeds may allow some of these challenges to be overcome. The aim was to compare safety and effectiveness of wire and magnetic seed localization techniques.

Exploration of chest wall perforator vascular anatomy on standard breast MRI: A potential aid to chest wall perforator flap planning.

Local chest wall perforator flaps (CWPFs) are a volume replacement technique permitting breast-conserving surgery in patients who otherwise may require a mastectomy. These flaps are based on one or more perforating arteries arising from the lateral chest wall that travel through the soft tissue and into the sub-dermal plexus to perfuse the flap. Examples include the lateral intercostal and lateral thoracic artery perforators (LICAP and LTAP, respectively).

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.

Overlapping clinical phenotypes and an expanding breadth and complexity of genomic associations are a growing challenge in the diagnosis and clinical management of Mendelian disorders. The functional consequences and clinical impacts of genomic variation may involve unique, disorder-specific, genomic DNA methylation episignatures. In this study, we describe 19 novel episignature disorders and compare the findings alongside 38 previously established episignatures for a total of 57 episignatures associated with 65 genetic syndromes.

Assessment of Functional Mobility After COVID-19 in Adults Aged 50 Years or Older in the Canadian Longitudinal Study on Aging.

Importance: The association of COVID-19 not requiring hospitalization with functional mobility in community-dwelling adults above and beyond the impact of the pandemic control measures implemented in 2020 remains to be elucidated.

Objective: To evaluate the association between a COVID-19 diagnosis and change in mobility and physical function of adults in Canada aged 50 years or older during the initial pandemic lockdown.

Design, Setting, And Participants: This population-based cohort study used data from the Canadian Longitudinal Study on Aging (CLSA) COVID-19 study.

Are early social communication skills a harbinger for language development in infants later diagnosed autistic?-A longitudinal study using a standardized social communication assessment.

The early emergence of social communication challenges and their impact on language in infants later diagnosed with autism has sparked many early intervention programs that target social communication skills. While research has consistently shown lower scores on social communication assessments in the first year of life, there is limited research at 12-months exploring associations between different dimensions of social communication and later language. Understanding associations between early social communication skills and language would enhance our ability to choose high priority intervention goals that will impact downstream language skills.

Negative Pressure Neurogenesis: A Novel Approach to Accelerate Nerve Regeneration after Complete Peripheral Nerve Transection.

Unlabelled: Various modalities to facilitate nerve regeneration have been described in the literature with limited success. We hypothesized that negative pressure applied to a sectioned peripheral nerve would enhance nerve regeneration by promoting angiogenesis and axonal lengthening.

Methods: Wistar rats' sciatic nerves were cut (creating ~7 mm nerve gap) and placed into a silicone T-tube, to which negative pressure was applied.

Quantitative Insights Into β-Lactamase Inhibitor's Contribution in the Treatment of Carbapenemase-Producing Organisms With β-Lactams.

Carbapenemase-producing organisms (CPOs) are associated with high mortality rates. The recent development of β-lactamase inhibitors (BLIs) has made it possible to control CPO infections safely and effectively with β-lactams (BLs). This study aims to explicate the quantitative relationship between BLI's β-lactamase inhibition and CPO's BL susceptibility restoration, thereby providing the infectious disease society practical scientific grounds for regulating the use of BL/BLI in CPO infection treatment.

Infant vocalizing and phenotypic outcomes in autism: Evidence from the first 2 years.

Infant vocalizations are early-emerging communicative markers shown to be atypical in autism spectrum disorder (ASD), but few longitudinal, prospective studies exist. In this study, 23,850 infant vocalizations from infants at low (LR)- and high (HR)-risk for ASD (HR-ASD = 23, female = 3; HR-Neg = 35, female = 13; LR = 32, female = 10; 80% White; collected from 2007 to 2017 near Philadelphia) were analyzed at 6, 12, and 24 months. At 12 months, HR-ASD infants produced fewer vocalizations than HR-Neg infants.

Effect of COVID-19 pandemic lockdowns on planned cancer surgery for 15 tumour types in 61 countries: an international, prospective, cohort study.

Background: Surgery is the main modality of cure for solid cancers and was prioritised to continue during COVID-19 outbreaks. This study aimed to identify immediate areas for system strengthening by comparing the delivery of elective cancer surgery during the COVID-19 pandemic in periods of lockdown versus light restriction.

Methods: This international, prospective, cohort study enrolled 20 006 adult (≥18 years) patients from 466 hospitals in 61 countries with 15 cancer types, who had a decision for curative surgery during the COVID-19 pandemic and were followed up until the point of surgery or cessation of follow-up (Aug 31, 2020).

Hypertriglyceridemia in Critically Ill Patients With SARS-CoV-2 Infection.

Background: Patients with SARS-CoV-2 infection could develop severe disease requiring critical care admission. Case reports indicated high incidence of hypertriglyceridemia (HTG) in critically ill patients infected with SARS-CoV-2, which might be related to the drugs.

Objective: We sought to determine the risk factors associated with HTG in this population and to investigate the relationship between HTG and lipase.

Contemporary Outcomes After Partial Resection of Infected Aortic Grafts.

Introduction: Aortic graft infection remains a considerable clinical challenge, and it is unclear which variables are associated with adverse outcomes among patients undergoing partial resection.

Methods: A retrospective, multi-institutional study of patients who underwent partial resection of infected aortic grafts from 2002 to 2014 was performed using a standard database. Baseline demographics, comorbidities, operative, and postoperative variables were recorded.

Drainage of pancreatic fluid collections using a lumen-apposing metal stent with an electrocautery-enhanced delivery system.

Background And Aim: Our aim was to evaluate the efficacy and safety of a lumen-apposing metal stent with an electrocautery-enhanced delivery system (EDS-LAMS) for endoscopic ultrasound (EUS)-guided drainage of pancreatic fluid collections (PFCs) in regular clinical practice.

Methods: A retrospective and subsequent prospective analysis was undertaken of all patients who underwent EUS-guided drainage of their PFCs using the EDS-LAMS at 17 tertiary therapeutic endoscopy centers.

Results: Two hundred eight cases of EDS-LAMS deployment were attempted in 202 patients (mean age 52.

Implementation of medical tests in a Value-Based healthcare environment: A framework for delivering value.

Significant variation in the utilisation of medical tests is known to have an adverse impact on health outcomes and analysis of this variation is an important tool for quality assurance in healthcare. The introduction of a new medical test into a care pathway requires two distinct processes, termed adoption and implementation. One cause of the unwarranted variation in the use of medical tests is poor adoption and implementation.

Growth Rates of Infants Randomized to Continuous Positive Airway Pressure or Intubation After Extremely Preterm Birth.

Objective: To evaluate the effects of early treatment with continuous positive airway pressure (CPAP) on nutritional intake and in-hospital growth rates of extremely preterm (EPT) infants.

Study Design: EPT infants (24-27 weeks of gestation) enrolled in the Surfactant Positive Airway Pressure and Pulse Oximetry Trial (SUPPORT) were included. EPT infants who died before 36 weeks of postmenstrual age (PMA) were excluded.

Applying adherent DBT Principles to treatment in a partial hospital setting: An analysis over 5-years of outcomes from intake to discharge.

Objectives: A small number of studies to date have examined Partial Hospital (PH) that utilize a Dialectical Behavior Therapy (DBT) model. Preliminary findings suggest DBT PH programs can be effective in various symptom reduction.

Methods: This study examined clinically relevant outcomes and included a heterogeneous clinical sample over a five-year period.

Innovations for the future of breast surgery.

Background: Future innovations in science and technology with an impact on multimodal breast cancer management from a surgical perspective are discussed in this narrative review. The work was undertaken in response to the Commission on the Future of Surgery project initiated by the Royal College of Surgeons of England.

Methods: Expert opinion was sought around themes of surgical de-escalation, reduction in treatment morbidities, and improving the accuracy of breast-conserving surgery in terms of margin status.

Food Insecurity in an Urban Pregnancy Cohort.

Objective: Food insecurity is a prominent problem and has been implicated in adverse maternal and neonatal outcomes. This study aims to describe the food insecure population in an urban academic health center perinatal cohort.

Study Design: We enrolled 451 postpartum inpatients at the University of Cincinnati Medical Center who completed a questionnaire and were then categorized as food insecure based on U.