ScreenPlus: A comprehensive, multi-disorder newborn screening program.

The increasing availability of novel therapies highlights the importance of screening newborns for rare genetic disorders so that they may benefit from early therapy, when it is most likely to be effective. Pilot newborn screening (NBS) studies are a way to gather objective evidence about the feasibility and utility of screening, the accuracy of screening assays, and the incidence of disease. They are also an optimal way to evaluate the complex ethical, legal and social implications (ELSI) that accompany NBS expansion for disorders.

Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease.

KARS1 encodes a lysyl-transfer RNA synthetase (LysRS) that links lysine to its cognate transfer RNA. Two different KARS1 isoforms exert functional effects in cytosol and mitochondria. Bi-allelic pathogenic variants in KARS1 have been associated to sensorineural hearing and visual loss, neuropathy, seizures, and leukodystrophy.

Domestic Violence and Its Effects on Women, Children, and Families.

Men and women experience severe domestic violence (DV) and intimate partner violence (IPV); however, women and children remain especially vulnerable. Violence along the DV/IPV continuum has been recognized as a type of child maltreatment and a child's awareness that a caregiver is being harmed or at risk of harm is sufficient to induce harmful sequelae. Consequences of these abusive behaviors are associated with mental and physical health consequences.

The Acculturation Toolkit: An Orientation for Pediatric International Medical Graduates Transitioning to the United States Medical System.

Introduction: International medical graduates (IMGs) consistently contribute to the US physician workforce. In fact, 25% of practicing pediatricians in the US are IMGs, highlighting the needs of IMG trainees. IMGs face unique challenges with acculturation compared to their peers due to unfamiliarity with the US medical system, especially the dynamics around patient-centered care.

Rising Clinical Burden of Psychiatric Visits on the Pediatric Emergency Department.

Objective: The mental health epidemic in pediatrics has resulted in a growing clinical burden on the health care system, including pediatric emergency departments (PED). Our objective was to describe the changing characteristics of visits to an urban PED, in particular length of stay, for emergency psychiatric evaluations (EPEs) over a 10-year period.

Methods: A retrospective study of children with an EPE in the PED at a large urban quaternary care children's hospital was performed during two discrete periods a decade apart: July 1, 2003-June 30, 2004 (period 1) and July 1, 2013-June 30, 2014 (period 2).

Seronegative Myasthenia Gravis, as a Rare Autoimmune Condition in Turner Syndrome.

Girls with Turner syndrome (TS), especially with isochromosome 46,X,i(X)(q10), are prone to develop autoimmunity. Associations of several autoimmune conditions with TS have been frequently described in the past. However, the unique combination of TS and myasthenia gravis (MG) has been reported only once before in a girl with mosaic monosomy 45,X/46,XX.

Rare Case of Spinal Cord Compression as Initial Presentation of Thymic Carcinoma.

Thymic carcinomas are rare aggressive cancers with limited clinical trial data. Its usual treatment is surgical resection with variable response to chemotherapy and radiation. It usually presents as anterior mediastinal mass with late sequela of metastases to the lymph nodes, pleura and bones.

Rare Presentation of Adrenocortical Carcinoma in a 4-Month-Old Boy.

Adrenocortical carcinoma (ACC) is a rare malignancy and even rarer in infancy. Most of these tumors in pediatric age group are hormonally active and predominantly present with virilization. Cortisol hypersecretion presenting as Cushing syndrome is extremely rare and seen in older age groups.

Associations Between Adverse Childhood Experiences and ADHD Diagnosis and Severity.

Objective: Although identifying adverse childhood experiences (ACEs) among children with behavioral disorders is an important step in providing targeted therapy and support, little is known about the burden of ACEs among children with attention deficit-hyperactivity disorder (ADHD). We described the prevalence of ACEs in children with and without ADHD, and examined associations between ACE type, ACE score, and ADHD diagnosis and severity.

Methods: Using the 2011 to 2012 National Survey of Children's Health, we identified children aged 4 to 17 years whose parents indicated presence and severity of ADHD, and their child's exposure to 9 ACEs.

Sudden versus gradual pressure wean from Nasal CPAP in preterm infants: a randomized controlled trial.

Objective: In preterm infants, nasal continuous positive airway pressure (NCPAP) is widely used for treatment of respiratory distress syndrome. However, the strategies for successfully weaning infants off NCPAP are still not well defined and there remains considerable variation between the methods. The objective of this study is to determine whether gradual weaning of NCPAP pressure is more successful than sudden weaning off NCPAP to room air.

International travel is a risk factor for extended-spectrum β-lactamase-producing Enterobacteriaceae acquisition in children: A case-case-control study in an urban U.S. hospital.

Background: Extended-spectrum β-lactamase-producing Enterobacteriaceae (ESBL) infections are increasing in both adults and children. The aim of this study was to describe the epidemiology of children with ESBL in an ethnically-diverse population, to determine what proportion of these infections were community-onset, and to identify risk factors predisposing children to ESBL acquisition.

Methods: A case-case-control study of children aged 0-18 years was conducted from 2012 to 2014.

Effect of Marijuana Use on Thyroid Function and Autoimmunity.

Background: Marijuana is legalized for medical use in 24 states and for recreational use in 5. However, effects of marijuana use on thyroid function and autoimmunity are unknown.

Methods: We performed a cross-sectional analysis of data from the National Health and Nutrition Examination Survey (NHANES) conducted between 2007 and 2012 to assess the effects of marijuana on thyroid function and autoimmunity in users.

No Rush to Motherhood: The Lived Experience of African American Never Pregnant Sexually Active Female Teens.

Purpose: The aim of this study was to gain a deeper understanding of the lived experiences of underserved minority sexually active teenaged girls' successful avoidance of unwanted pregnancy.

Design And Method: Merleau-Ponty's methodology and van Manen's method of doing phenomenological research guided and facilitated the process of the study. 7 participants were eligible and all of them were interviewed for this study.

Association of A Dilated Coronary Sinus in the Fetus with Actual and Apparent Coarctation of the Aorta and Diminutive Left Heart Structures.

Evidence suggests an association between left heart obstructive lesions and dilated coronary sinus (DCS), but this has not been studied in fetuses. A retrospective review of fetal echocardiograms (FE) over an 8-year period was conducted, and patients with DCS were identified and confirmed postnatally. There were 5840 FE performed on 4920 women during this period.

Topical Iodine-Induced Thyrotoxicosis in a Newborn with a Giant Omphalocele.

Introduction: Neonatal thyrotoxicosis is a life-threatening condition with potentially irreversible neurologic sequelae. Most cases are seen in neonates born to mothers with Graves' disease. Topical iodine-induced hypothyroidism has been reported in neonates, but iodine-induced neonatal hyperthyroidism has not been described; albeit a familiar entity in adults.

Bilateral Adrenal Hyperplasia as a Possible Mechanism for Hyperandrogenism in Women With Polycystic Ovary Syndrome.

Context: Androgen excess may be adrenal and/or ovarian in origin; we hypothesized that a subgroup of patients with polycystic ovarian syndrome (PCOS) may have some degree of abnormal adrenocortical function.

Objective: The objective of the study was to evaluate the pituitary adrenal axis with an oral low- and high-dose dexamethasone-suppression test (Liddle's test) in women with PCOS.

Design: This was a case-control study.

Relationship of ambulatory blood pressure and body mass index to left ventricular mass index in pediatric patients with casual hypertension.

Both obesity and hypertension are associated with left ventricular hypertrophy (LVH) in children. Our objective was to compare the prevalence of LVH in obese and nonobese subjects with casual hypertension who underwent ambulatory blood pressure monitoring (ABPM). Untreated children (aged 6-20 years) underwent 24-hour ABPM, and left ventricular mass index (LVMI) was measured.

Young Patients With Diabetes Have Decreased Cerebrovascular Reactivity Under Hypercapneic Conditions.

Objective: Adult diabetic patients have an abnormal cerebrovascular response to hypercapnia, but there are few studies focused on diabetes mellitus type 1 and cerebral blood flow in pediatric or adolescent patients. We hypothesize that young patients with diabetes exhibit a different response to hypercapnia than normal control counterparts.

Methods: Using transcranial Doppler techniques, we compared young diabetic patients with healthy controls by measuring cerebral blood velocity before and during carbon dioxide challenge.

Lipoprotein Particles in Adolescents and Young Women With PCOS Provide Insights Into Their Cardiovascular Risk.

Context: Adult women with polycystic ovarian syndrome (PCOS) have an increased risk for cardiovascular disease, but the evidence for this is controversial in adolescents and young women with PCOS. Measurement of low-density lipoprotein (LDL) particle number, measured by nuclear magnetic resonance spectroscopy is a novel technology to assess cardiovascular risk.

Objective: The objective of the study was to evaluate lipoprotein particle number and size in young women with PCOS and its relationship with insulin resistance and hyperandrogenism.

Children neglected: Where cumulative risk theory fails.

Neglected children, by far the majority of children maltreated, experience an environment most deficient in cognitive stimulation and language exchange. When physical abuse co-occurs with neglect, there is more stimulation through negative parent-child interaction, which may lead to better cognitive outcomes, contrary to Cumulative Risk Theory. The purpose of the current study was to assess whether children only neglected perform worse on cognitive tasks than children neglected and physically abused.

Lead poisoning in children.

There is no safe lead level in children. Primary prevention is the most effective way to bring about the complete removal of lead from the environment and eliminate lead poisoning as a public health concern. The National Lead Information Center can be reached via the Internet at www.