Acute metabolic decompensation after liver transplant in a patient with maple syrup urine disease.

Maple syrup urine disease (MSUD) is an inborn error of metabolism characterized by the accumulation of branched-chain amino acids (leucine, isoleucine, and valine) caused by a defect in the branched-chain alpha-keto acid dehydrogenase complex. Liver transplant is an effective therapy for MSUD, and patients can usually tolerate a regular diet after transplant without symptomatic metabolic decompensation. Most post-transplant patients do not follow a sick-day diet.

Response of health-related quality of life following pediatric/congenital cardiac catheterization procedures.

Background: Health related quality of life (HRQOL) is a patient-reported metric (PRM) that provides a holistic measure of health that is not addressed in traditional outcome measures. The acute responsiveness of HRQOL after pediatric/congenital cardiac catheterization procedures has not, to our knowledge, been studied.

Methods: A single-center prospective cohort study was performed, longitudinally evaluating HRQOL and other PRM in school-age children and adolescents (ages 8-18) undergoing diagnostic and interventional cardiac catheterization procedures prior to their scheduled procedure, and then 1 day, ∼1 month, and ∼3 months after the procedure.

Multiple myeloma, IL6, and risk of schizophrenia: A Mendelian randomization, transcriptome, and Bayesian colocalization study.

Numerous clinical studies speculated the association between multiple myeloma (MM) and inflammatory diseases; however, there is limited validation of these claims via establishing a causal relationship and revealing the underlying mechanism. This exploratory study employed bidirectional Mendelian randomization (MR) analysis to investigate the causal relationships between MM and inflammatory diseases, including atherosclerosis, asthma, ankylosing spondylitis, Alzheimer's disease (AD), Parkinson's disease (PD), sarcoidosis, inflammatory bowel disease, nonalcoholic fatty liver disease, type II diabetes, and schizophrenia (SZ). Transcriptomic and genome-wide Bayesian colocalization analyses were further applied to reveal the underlying mechanism.

Incidence and Risk Factors for New and Recurrent Infarcts in Adults With Sickle Cell Disease.

Background: Most adults with sickle cell disease will experience a silent cerebral infarction (SCI) or overt stroke. Identifying patient subgroups with increased stroke incidence is important for future clinical trials focused on stroke prevention. Our 3-center prospective cohort study tested the primary hypothesis that adults with sickle cell disease and SCIs have a greater incidence of new stroke or SCI compared with those without SCI.

Effect of patient factors, center, and era on Fontan timing: An observational study using the Pediatric Health Information Systems Database.

Background: There are no consensus guidelines defining optimal timing for the Fontan operation, the last planned surgery in staged palliation for single-ventricle heart disease.

Objectives: Identify patient-level characteristics, center-level variation, and secular trends driving Fontan timing.

Methods: A retrospective observational study of subjects who underwent Fontan from 2007 to 2021 at centers in the Pediatric Health Information Systems database was performed using linear mixed-effects modeling in which age at Fontan was regressed on patient characteristics and date of operation with center as random effect.

Trends in Ductus Arteriosus Stent Versus Blalock-Taussig-Thomas Shunt Use and Comparison of Cost, Length of Stay, and Short-Term Outcomes in Neonates With Ductal-Dependent Pulmonary Blood Flow: An Observational Study Using the Pediatric Health Information Systems Database.

Background: The modified Blalock-Taussig-Thomas shunt is the gold standard palliation for securing pulmonary blood flow in infants with ductal-dependent pulmonary blood flow. Recently, the ductus arteriosus stent (DAS) has become a viable alternative.

Methods And Results: This was a retrospective multicenter study of neonates ≤30 days undergoing DAS or Blalock-Taussig-Thomas shunt placement between January 1, 2017 and December 31, 2020 at hospitals reporting to the Pediatric Health Information Systems database.

Biochemical characterization of patients with dihydrolipoamide dehydrogenase deficiency.

Dihydrolipoamide dehydrogenase (DLD; E3) oxidizes lipoic acid. Restoring the oxidized state allows lipoic acid to act as a necessary electron sink for the four mitochondrial keto-acid dehydrogenases: pyruvate dehydrogenase, alpha-ketoglutarate dehydrogenase, branched-chain α-keto-acid dehydrogenase, and 2-oxoadipate dehydrogenase. DLD deficiency (DLDD) is caused by biallelic pathogenic variants in .

Association of Interstage Monitoring Era and Likelihood of Hemodynamic Compromise at Intervention for Recoarctation Following the Norwood Operation.

Background Intensive monitoring has been associated with a lower death rate between the Norwood operation and superior cavopulmonary connection, possibly due to early identification and effective treatment of residual anatomic lesions like recoarctation before lasting harm occurs. Methods and Results Neonates undergoing a Norwood operation and receiving interstage care at a single center between January 1, 2005, and September 18, 2020, were studied. In those with recoarctation, we evaluated association of era ([1] preinterstage monitoring, [2] a transitional phase, [3] current era) and likelihood of hemodynamic compromise (progression to moderate or greater ventricular dysfunction/atrioventricular valve regurgitation, initiation/escalation of vasoactive/respiratory support, cardiac arrest preceding catheterization, or interstage death with recoarctation on autopsy).

Postmortem diagnosis of very long chain acyl-CoA dehydrogenase (VLCAD) deficiency in a neonate with sudden cardiac death.

Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is an autosomal recessive long chain fatty acid β-oxidation disorder with a variable clinical spectrum, ranging from an acute neonatal presentation with cardiac and hepatic failure to childhood or adult onset of symptoms with hepatomegaly or rhabdomyolysis provoked by illness or exertion. Neonatal cardiac arrest or sudden unexpected death can be the presenting phenotype in some patients, emphasizing the importance of early clinical suspicion and intervention. We report a patient who had a cardiac arrest and died at one day of age.

A Unique High-Output Cardiac Hypertrophy Phenotype Arising From Low Systemic Vascular Resistance in Cantu Syndrome.

Background Cardiomegaly caused by left ventricular hypertrophy is a risk factor for development of congestive heart failure, classically associated with decreased systolic and/or diastolic ventricular function. Less attention has been given to the phenotype of left ventricular hypertrophy with enhanced ventricular function and increased cardiac output, which is potentially associated with high-output heart failure. Lack of recognition may pose diagnostic ambiguity and management complexities.

Dietary compliance in a randomized double-blind infant feeding trial during infancy aiming at prevention of type 1 diabetes.

The international Trial to Reduce IDDM in the Genetically at Risk (TRIGR) tested the hypothesis whether extensively hydrolyzed casein-based versus regular cow's milk-based infant formula reduces the risk of type 1 diabetes. We describe dietary compliance in the trial in terms of study formula intake, feeding of nonrecommended foods, and serum cow's milk antibody concentration reflecting intake of cow's milk protein among 2,159 eligible newborn infants with a biological first-degree relative affected by type 1 diabetes and with HLA-conferred susceptibility to type 1 diabetes. The participating infants were introduced to the study formula feeding at the median age of 15 days with a median duration of study formula use of 63 days.

Reducing infant catheterization in the emergency department through clean-catch urine collection.

Objective: Our emergency department (ED) traditionally relied on urethral catheterization to obtain urine cultures when evaluating infants for urinary tract infections (UTIs). Catheterization is associated with adverse effects, and recent studies have demonstrated clean-catch urine methods can be successfully used to obtain urine cultures. We pursued a quality improvement (QI) initiative aimed at decreasing the frequency of urethral catheterizations in our ED by using an established clean-catch technique to obtain infant urine cultures.

Fatal COVID-19 infection in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case report.

Long-chain fatty-acyl CoA dehydrogenase deficiency (LCHADD) is an inborn error of long chain fatty acid oxidation with various features including hypoketotic hypoglycemia, recurrent rhabdomyolysis, pigmentary retinopathy, peripheral neuropathy, cardiomyopathy, and arrhythmias. Various stresses trigger metabolic decompensation. Coronavirus disease 2019 (COVID-19) is a pandemic caused by the RNA virus SARS-CoV-2 with diverse presentations ranging from respiratory symptoms to myocarditis.

Developmental Programming of NAFLD by Parental Obesity.

The surge of obesity across generations has become an increasingly relevant issue, with consequences for associated comorbidities in offspring. Data from longitudinal birth cohort studies support an association between maternal obesity and offspring nonalcoholic fatty liver disease (NAFLD), suggesting that perinatal obesity or obesogenic diet exposure reprograms offspring liver and increases NAFLD susceptibility. In preclinical models, offspring exposed to maternal obesogenic diet have increased hepatic steatosis after diet-induced obesity; however, the implications for later NAFLD development and progression are still unclear.

Cystic Fibrosis Foundation consensus guidelines for the care of individuals with advanced cystic fibrosis lung disease.

Background: Advanced cystic fibrosis lung disease (ACFLD) is common, is associated with reduced quality of life, and remains the most frequent cause of death in individuals with cystic fibrosis (CF). These consensus guidelines provide recommendations to the CF community on management of both common and unique issues that arise when individuals reach a state of ACFLD.

Methods: The CF Foundation assembled a multidisciplinary expert panel consisting of three workgroups: Pulmonary management; Management of comorbid conditions; Symptom management and psychosocial issues.

Asymmetric sensorineural hearing loss is a risk factor for late-onset hearing loss in pediatric cancer survivors following cisplatin treatment.

Background: Ototoxicity is a significant complication of cisplatin treatment. Hearing loss can be symmetric or asymmetric, and may decline after therapy. This study examined the risks of asymmetric and late-onset hearing loss (LOHL) in cisplatin-treated pediatric patients with cancer.

Metabolic importance of adipose tissue monoacylglycerol acyltransferase 1 in mice and humans.

Adipocyte triglyceride storage provides a reservoir of energy that allows the organism to survive times of nutrient scarcity, but excessive adiposity has emerged as a health problem in many areas of the world. Monoacylglycerol acyltransferase (MGAT) acylates monoacylglycerol to produce diacylglycerol; the penultimate step in triglyceride synthesis. However, little is known about MGAT activity in adipocytes, which are believed to rely primarily on another pathway for triglyceride synthesis.

The influence of atopy and asthma on immune responses in inner-city adults.

Asthma in the inner-city population is usually atopic in nature, and is associated with significant morbidity and mortality. However, the underlying immune abnormalities that underlie asthma in urban adults have not been well defined. We investigated the influence of atopy and asthma on cytokine responses of inner-city adult women to define immune abnormalities associated with asthma and atopy.

Determinants of Anemia and Hemoglobin Concentration in Haitian School-Aged Children.

Anemia diminishes oxygen transport in the body, resulting in potentially irreversible growth and developmental consequences for children. Limited evidence for determinants of anemia exists for school-aged children. We conducted a cluster randomized controlled trial in Haiti from 2012 to 2013 to test the efficacy of a fortified school snack.

Isoprenoid metabolism in apicomplexan parasites.

Apicomplexan parasites include some of the most prevalent and deadly human pathogens. Novel antiparasitic drugs are urgently needed. Synthesis and metabolism of isoprenoids may present multiple targets for therapeutic intervention.

An update on the efficacy of oral corticosteroids in the treatment of wheezing episodes in preschool children.

Traditionally, oral corticosteroids (OCSs) have been the mainstay of treatment for acute wheezing episodes among preschool children with a history of recurrent wheezing. Although there is substantial evidence for the efficacy of OCSs as a treatment for asthma exacerbations in school-aged children and adolescents, recent clinical studies questioned the benefits of OCSs as a treatment for acute wheezing in preschool children. This review summarizes the current evidence on the efficacy of OCSs as a treatment for acute wheezing episodes among preschool age children with episodic wheezing, focusing on studies performed in three different settings: OCS treatment initiated by parents in the outpatient setting, OCS treatment initiated in the emergency department (ED), and OCS treatment among hospitalized preschool children.