MYT1L is a neuronal transcription factor highly expressed in the developing and adult brain. While pathogenic mutation causes neurodevelopmental disorders, these have not been characterized in human models of neurodevelopment. Here, we defined the consequences of pathogenic mutation in human pluripotent stem cell-derived cortical interneurons.
View Article and Find Full Text PDFBackground: Acute kidney injury (AKI) is a major contributor to end-stage kidney disease (ESKD). About one-third of patients with ESKD due to AKI recover kidney function. However, the inability to accurately predict recovery leads to improper triage of clinical monitoring and impacts the quality of care in ESKD.
View Article and Find Full Text PDFBackground: Cardiovascular disease is the leading cause of mortality in patients with kidney failure, and their risk of cardiovascular events is 10 to 20 times higher as compared with the general population.
Methods And Results: We evaluated 508 822 patients who initiated dialysis between January 1, 2005 and December 31, 2014 using the United States Renal Data System with linked Medicare claims. We determined hospitalization rates for cardiovascular events, defined by acute coronary syndrome, heart failure, and stroke.
Understanding the nanoscale elastic-size-effects of atomically thin transition-metal dichalcogenides (TMDs) as a function of thickness underpins the avenue of flexible 2D electronics. In this work, we employed the atomic force acoustic microscopy (AFAM) technique to investigate the thickness-dependent elastic properties of CVD grown 2H-MoS films. The monolayer MoS exhibited a Young's modulus of 273 ± 27 GPa.
View Article and Find Full Text PDFObjective: Quantify the evolution and severity of neonatal skin injury, specifically diaper skin compromise, by embedding a validated skin integrity evaluation into the electronic health record (EHR).
Methods: Retrospective longitudinal cohort analysis of 747 patients stratified by gestation: 22-27, 28-31, 32-24, and 35-37 weeks, from birth to discharge. Primary outcomes were time to first perineal erythema, duration as percent days with erythema, and severity as maximum score.
Key Points: Women on home hemodialysis have higher 1-year mortality than men, and women and men have comparable survival on long-term follow-up. Compared with White patients on home hemodialysis, there was no difference in all-cause mortality for Black patients, Hispanics, or Native Americans. Among patients undergoing home hemodialysis, Asians had a lower risk of all-cause mortality than White patients.
View Article and Find Full Text PDFMutations in the chromodomain helicase DNA binding protein 2 (CHD2) gene are associated with neurodevelopmental disorders. However, mechanisms by which CHD2 regulates human brain development remain largely uncharacterized. Here, we used a human embryonic stem cell model of cortical interneuron (hcIN) development to elucidate its roles in this process.
View Article and Find Full Text PDFUnlabelled: Acute antibody-mediated rejection (AMR) is mediated by the activation of the classical complement system in addition to noncomplement-dependent inflammatory pathways. Complement fixation by donor-specific antibodies leads to cleavage of the complement proteins C4, C3, and C5 to produce multiple complement split-products (CSP) and the end-effector membrane attack complex, C5b-9. In this study, we investigate CSP as potential biomarkers for AMR.
View Article and Find Full Text PDFIntroduction: We determined the rate of cystoscopy with hydrodistention (CH) before and after the 2011 American Urological Association (AUA) amended clinical guideline, "Diagnosis and Treatment of Interstitial Cystitis/Bladder Pain Syndrome."
Methods: Clinical encounters with a diagnosis of interstitial cystitis/bladder pain syndrome (IC/BPS) where cystoscopy with and without hydrodistention was performed were identified in the Vizient® Clinical Data Base between January 2009 and February 2020. Demographic and clinical information such as patient age, gender, race, treating physician specialty, insurance type and type of hospital (teaching vs nonteaching) was recorded.
Background: Copy number variants (CNVs) linked to genes involved in nervous system development or function are often associated with neuropsychiatric disease. While CNVs involving deletions generally cause severe and highly penetrant patient phenotypes, CNVs leading to duplications tend instead to exhibit widely variable and less penetrant phenotypic expressivity among affected individuals. CNVs located on chromosome 15q13.
View Article and Find Full Text PDFReprogramming of somatic cells into induced pluripotent stem cells (iPSCs) and their differentiation into neural lineages is a revolutionary experimental system for studying neurological disorders, including intellectual and developmental disabilities (IDDs). However, issues related to variability and reproducibility have hindered translating preclinical findings into drug discovery. Here, we identify areas for improvement by conducting a comprehensive review of 58 research articles that utilized iPSC-derived neural cells to investigate genetically defined IDDs.
View Article and Find Full Text PDFBreast milk reduces morbidity and mortality in infants admitted to neonatal intensive care unit (NICU). We determined predictors of procuring mother's own milk (MOM) among NICU-admitted newborn-mother dyads: (1) initiation of any milk expression; (2) initiation of milk expression within 6 hours of birth; (3) MOM as the first enteral feeding; (4) colostrum for oral care within 36 hours of birth if not yet orally fed; and (5) provision of MOM at 21 days of life or discharge, whichever occurred first. We performed a retrospective chart review of NICU-admitted newborn-mother dyads at an urban medical center from June 1, 2018-May 31, 2019.
View Article and Find Full Text PDFRationale & Objective: Although end-stage kidney disease (ESKD) adversely affects fertility, pregnancies can occur among women receiving dialysis. ESKD increases the risk for adverse pregnancy outcomes and little is known about contraceptive use in women undergoing dialysis.
Study Design: Retrospective cohort study.
Background And Objectives: AKI requiring dialysis is a contributor to the growing burden of kidney failure, yet little is known about the frequency and patterns of recovery of AKI and its effect on outcomes in patients on incident dialysis.
Design, Setting, Participants, & Measurements: Using the US Renal Data System, we evaluated a cohort of 1,045,540 patients on incident dialysis from January 1, 2005 to December 31, 2014, retrospectively. We examined the association of kidney failure due to AKI with the outcome of all-cause mortality and the associations of sex and race with kidney recovery.
Background: Acute kidney injury (AKI) during pregnancy is a public health problem and is associated with maternal and fetal morbidity and mortality. Clinical outcomes and health care utilization in pregnancy-related AKI, especially in women with diabetes, are not well studied.
Methods: Using data from the 2006 to 2015 Nationwide Inpatient Sample, we identified 42,190,790 pregnancy-related hospitalizations in women aged 15-49 years.
Background: Autism spectrum disorder (ASD) is a neurodevelopmental disorder with pronounced heritability in the general population. This is largely attributable to the effects of polygenic susceptibility, with inherited liability exhibiting distinct sex differences in phenotypic expression. Attempts to model ASD in human cellular systems have principally involved rare de novo mutations associated with ASD phenocopies.
View Article and Find Full Text PDFThe dashboards of electronic health record (EHR) systems could potentially support the chart biopsy that occurs before or after physician handoffs. In this study, we conducted a simulation handoff study and recorded the participants' navigation patterns in an EHR system mock-up. We analyzed the navigation patterns of dashboard use in terms of duration, frequency, and sequence, and we examined the relationship between dashboard use in chart biopsy and the errors identified after handoffs.
View Article and Find Full Text PDFBackground: Pregnancy in women with ESKD undergoing dialysis is uncommon due to impaired fertility. Data on pregnancy in women on dialysis in the United States is scarce.
Methods: We evaluated a retrospective cohort of 47,555 women aged 15-44 years on dialysis between January 1, 2005 and December 31, 2013 using data from the United States Renal Data System with Medicare as primary payer.
Purpose: To inform graduate medical education (GME) outcomes at the individual resident level, this study sought a method for attributing care for individual patients to individual interns based on "footprints" in the electronic health record (EHR).
Method: Primary interns caring for patients on an internal medicine inpatient service were recorded daily by five attending physicians of record at University of Cincinnati Medical Center in August 2017 and January 2018. These records were considered gold standard identification of primary interns.
Background: Although kidney transplant improves reproductive function in women with end-stage kidney disease (ESKD), pregnancy in kidney transplant recipients' remains challenging due to the risk of adverse maternal and fetal outcomes.
Methods: We evaluated a retrospective cohort of 7,966 women who were aged 15-45 years and received a kidney transplant between January 1, 2005 and December 31, 2011 from the United States Renal Data System with Medicare as the primary payer for the entire three years after the date of transplantation. Unadjusted and adjusted rates of pregnancy in the first three post-transplant years were calculated, using Poisson regression for the adjustment.
Objective: To identify the nationwide rate of salpingectomy for permanent contraception before and after the January 2015 American College of Obstetricians and Gynecologists (ACOG) Committee Opinion, Salpingectomy for Ovarian Cancer Prevention.
Study Design: Using ICD-9/10 diagnosis and procedure codes within the Vizient database, we identify permanent contraception procedures with and without salpingectomy, among females 18-50 years old between January 2013 and January 2017. Subject, hospital characteristics and costs information were recorded.
Background: Racial minorities and women constitute substantial portions of the incident and prevalent end-stage renal disease (ESRD) population in the United States. Although ESRD is characterized by high mortality, temporal trends, and race and sex differences in mortality have not been studied.
Methods: We evaluated 944,650 adult patients who initiated dialysis between January 1, 2005 and December 31, 2014, using the United States Renal Data System, for sex-related and race-related trends in mortality.