[This corrects the article DOI: 10.1016/j.jctube.
View Article and Find Full Text PDFBackground: Previous studies in mouse, and zebrafish embryos show strong expression in progenitor cells of neuronal and neural crest tissues suggesting its involvement in neural crest specification. However, the role of human transcription factor activator protein 2 ( in human embryonic central nervous system (CNS), orofacial and maxillofacial development is unknown.
Methods: Through a collaborative work, exome survey was performed in families with congenital CNS, orofacial and maxillofacial anomalies.
Rationale: Biologic medications for immune-mediated inflammatory diseases may increase the risk of tuberculosis (TB) reactivation, but data on screening for TB in low TB prevalence areas are limited.
Objective: To assess the real-world practice patterns of TB screening among prescribers of biologic medications.
Methods: We conducted a retrospective observational study at a single, university-based healthcare facility in a low TB prevalence area.
Arthrogryposis multiplex congenita (AMC) is characterized by nonprogressive symmetric contractures of multiple joints with normal intellect and normal systemic examination. AMC is often due to fetal akinesia, which has neurologic, muscular, and connective tissue etiologies. We present a case of AMC due to a variant in the titin (TTN) gene in a term neonate.
View Article and Find Full Text PDFThere is substantial variation in the mean and variance of light levels (luminance and contrast) in natural visual scenes. Retinal ganglion cells maintain their sensitivity despite this variation using two adaptive mechanisms, which control how responses depend on luminance and on contrast. However, the nature of each mechanism and their interactions downstream of the retina are unknown.
View Article and Find Full Text PDFMajor adverse cardiovascular events (MACEs) are the leading cause of early (<1 y) complications after liver transplantation (LT). NASH, the leading indication for waitlisting for LT, is associated with high cardiac risk factor burden. The contemporary prevalence and temporal trends in pretransplant cardiac risk factor burden and post-LT MACE among LT recipients (LTRs) with and without NASH are unknown.
View Article and Find Full Text PDFCommuters in urban settlements are frequently exposed to high concentrations of air pollutants due to their proximity to mobile sources, making exposure to traffic-related air pollutants an important public health issue. Recent trends in urban transport towards zero- and low-tailpipe emission alternatives will likely result in decreased exposure to air pollutants. The TrUST (Urban transformations and health) study offers a unique opportunity to understand the impacts of a new cable car (TransMiCable) in underserved communities within Bogotá, Colombia.
View Article and Find Full Text PDFPeutz-Jeghers syndrome (PJS) is an autosomal dominant mutation of the STK11/LKB1 gene on chromosome 19 often characterized by mucocutaneous pigmentation, hamartomatous polyps, anemia, gastrointestinal bleeding and intussusception. We present the case of a 21-year-old female with no pertinent family history who received the diagnosis of PJS after presenting to the hospital with two episodes intussusception. Patients with PJS have an increased lifetime risk of developing stomach, small bowel, colon, pancreatic, breast, cervical, uterus and testicular cancer requiring religious surveillance at an early age.
View Article and Find Full Text PDFThe goal of newborn screening is to enhance the outcome of individuals with serious, treatable disorders through early, pre-symptomatic detection. The lysosomal storage disorders (LSDs) comprise a group of more than 50 diseases with a combined frequency of approximately 1:7000. With the availability of existing and new enzyme replacement therapies, small molecule treatments and gene therapies, there is increasing interest in screening newborns for LSDs with the goal of reducing disease-related morbidity and mortality through early detection.
View Article and Find Full Text PDFBackground: With the increasing number of genomic sequencing studies, hundreds of genes have been implicated in neurodevelopmental disorders (NDDs). The rate of gene discovery far outpaces our understanding of genotype-phenotype correlations, with clinical characterization remaining a bottleneck for understanding NDDs. Most disease-associated Mendelian genes are members of gene families, and we hypothesize that those with related molecular function share clinical presentations.
View Article and Find Full Text PDFObjective: To provide updated evidence and consensus-based recommendations for the classification of individuals who screen positive for Krabbe Disease (KD) and recommendations for long-term follow-up for those who are at risk for late onset Krabbe Disease (LOKD).
Methods: KD experts (KD NBS Council) met between July 2017 and June 2020 to develop consensus-based classification and follow-up recommendations. The resulting newly proposed recommendations were assessed in a historical cohort of 47 newborns from New York State who were originally classified at moderate or high risk for LOKD.
Introduction: Suboptimal pathologic nodal staging prevails after curative-intent resection of lung cancer. We evaluated the impact of a lymph node specimen collection kit on lung cancer surgery outcomes in a prospective, population-based, staggered implementation study.
Methods: From January 1, 2014, to August 28, 2018, we implemented the kit in three homogeneous institutional cohorts involving 11 eligible hospitals from four contiguous hospital referral regions.
Curr Opin Organ Transplant
February 2021
Purpose Of Review: As the field of transplant has advanced, cardiac events have become the leading cause of morbidity and mortality after liver and kidney transplantation ahead of graft failure and infection. This trend has been bolstered by the transplantation of older and sicker patients who have a higher burden of cardiovascular risk factors, accentuating the need to determine which patients should undergo more extensive cardiac evaluation prior to transplantation.
Recent Findings: Computed tomography coronary angiography with or without coronary artery calcium scoring is now preferred over stress imaging in most transplant candidates for assessment of coronary artery disease.
Background: The purpose of this scoping review was to examine the nature and quality of research regarding paediatric supracondylar humerus (SCH) fractures in low and lower middle-income countries (LICs).
Methods: We searched PubMed, Embase, Web of Science, and African Journals Online on January 9, 2018, for studies of SCH fractures in LICs. Studies were categorized by geographic region, Gartland classification of included patients, and study design.
In early 2018, the Centers for Medicare & Medicaid Services released the Medical Review of Evaluation and Management (E/M) Documentation, which allows supervising teaching physicians to rely on a medical student's documentation to support billing for E/M services. This change has potential to enhance education, clinical documentation quality, and the satisfaction of students, postgraduate trainees, and teaching physicians. However, its practical adoption presents many challenges that must be navigated successfully to realize these important goals in compliance with federal and local requirements, while avoiding unintended downstream problems.
View Article and Find Full Text PDFBackground: Surgical resection is the main curative modality for non-small cell lung cancer (NSCLC), but variation in the quality of care contributes to suboptimal survival rates. Improving surgical outcomes by eliminating quality deficits is a key strategy for improving population-level lung cancer survival. We evaluated the long-term survival effect of providing direct feedback on institutional performance in a population-based cohort.
View Article and Find Full Text PDFBackground: The burden oral anticoagulation is a limitation of mechanical valve prostheses.
Objectives: The aim of this study was to test whether patients could be safely managed with dual-antiplatelet therapy (DAPT) (aspirin 325 mg and clopidogrel 75 mg) or lower warfarin after On-X mechanical aortic valve replacement (mAVR).
Methods: PROACT (Prospective Randomized On-X Anticoagulation Trial) (n = 576) is a multicenter (41 sites) noninferiority trial.
Background: Accurate pathologic nodal staging improves early stage non-small cell lung cancer survival. In an ongoing implementation study, we measured the impact of a surgical lymph node specimen collection kit and a more thorough pathologic gross dissection method on attainment of guideline-recommended pathologic nodal staging quality.
Methods: We prospectively collected data on curative intent non-small cell lung cancer resections from 2009 to 2016 from 11 hospitals in four contiguous Dartmouth Hospital referral regions.
Surgery is the most important curative treatment modality for patients with early-stage non-small cell lung cancer (NSCLC). We examined the pattern of surgical resection for NSCLC in a high incidence and mortality region of the United States over a 10-year period (2004-2013) in the context of a regional surgical quality improvement initiative. We abstracted patient-level data on all resections at 11 hospitals in 4 contiguous Dartmouth Hospital Referral Regions in North Mississippi, East Arkansas, and West Tennessee.
View Article and Find Full Text PDFBackground: The National Comprehensive Cancer Network (NCCN) surgical resection guidelines for non-small cell lung cancer recommend anatomic resection, negative margins, examination of hilar/intrapulmonary lymph nodes, and examination of three or more mediastinal nodal stations. We examined the survival impact of these criteria.
Methods: A population-based observational study was done using patient-level data from all curative-intent, non-small cell lung cancer resections from 2004 to 2013 at 11 institutions in four contiguous Dartmouth Hospital referral regions in three US states.
Purpose: Krabbe disease (KD) results from galactocerebrosidase (GALC) deficiency. Infantile KD symptoms include irritability, progressive stiffness, developmental delay, and death. The only potential treatment is hematopoietic stem cell transplantation.
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