Cell-free DNA screening positive for monosomy X: clinical evaluation and management of suspected maternal or fetal Turner syndrome.

Initially provided as an alternative to evaluation of serum analytes and nuchal translucency for the assessment of pregnancies at high risk of trisomy 21, cell-free DNA screening for fetal aneuploidy, also referred to as noninvasive prenatal screening, can now also screen for fetal sex chromosome anomalies such as monosomy X as early as 9 to 10 weeks of gestation. Early identification of Turner syndrome, a sex chromosome anomaly resulting from the complete or partial absence of the second X chromosome, allows medical interventions such as optimizing obstetrical outcomes, hormone replacement therapy, fertility preservation and support, and improved neurocognitive outcomes. However, cell-free DNA screening for sex chromosome anomalies and monosomy X in particular is associated with high false-positive rates and low positive predictive value.

Body Image, Self-perception, and Satisfaction Among Girls With Turner Syndrome: A Prospective Cross-sectional Study.

Context: Delayed puberty and short stature in girls with Turner syndrome (TS) can lead to low body image, self-esteem, and satisfaction.

Objective: We aimed to evaluate body image, self-perception, and satisfaction among girls with TS using the Multi-Dimensional Body Image Self Relations Questionnaire-Appearance Scale (MBSRQ-AS).

Methods: Patients with karyotype-proven diagnosis of TS between 15 and 21 years were included after they achieved final adult height.

Rhabdomyolysis due to rosuvastatin in a patient with ROHHAD syndrome.

We report a 13-year-old female with rapid-onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome, panhypopituitarism, dyslipidemia, type 2 diabetes mellitus, and nonalcoholic fatty liver disease, who developed rhabdomyolysis and acute kidney injury, two weeks after switching from lovastatin to rosuvastatin. She had been on lovastatin for eight years without any adverse effects.

Trends in epidemiology and outcomes of respiratory distress syndrome in the United States.

Background: The management practices of Respiratory Distress Syndrome (RDS) in the newborn have changed over time. We examine the trends in the epidemiology, resource utilization, and outcomes (mortality and bronchopulmonary dysplasia [BPD]) of RDS in preterm neonates ≤34 weeks gestational age (GA) in the United States.

Methods: In this retrospective serial cross-sectional study, we used ICD-9 codes to classify preterm infants GA ≤34 weeks between 2003 and 2014 from the National Inpatient Sample as having RDS or not.

Pediatric Obesity-Related Asthma: The Role of Metabolic Dysregulation.

The burden of obesity-related asthma among children, particularly among ethnic minorities, necessitates an improved understanding of the underlying disease mechanisms. Although obesity is an independent risk factor for asthma, not all obese children develop asthma. Several recent studies have elucidated mechanisms, including the role of diet, sedentary lifestyle, mechanical fat load, and adiposity-mediated inflammation that may underlie the obese asthma pathophysiology.

Frequency and characteristics of infections caused by extended-spectrum beta-lactamase-producing organisms in neonates: a prospective cohort study.

This prospective cohort study was conducted to determine the frequency of infections caused by extended-spectrum beta-lactamase- (ESBL-) producing organisms, various bacteria producing ESBL, antibiotic susceptibility of these organisms, and the risk factors associated with these infections in a neonatal intensive care unit in a tertiary care hospital in North India. Of the 150 neonates enrolled in the study, 47 culture-positive neonates were included in the study cohort and were divided into two groups: ESBL-positive (8 neonates) and ESBL-negative (39 neonates) cohorts. Various organisms were isolated from 72 culture samples in these 47 neonates.

Knowledge and skill retention of in-service versus preservice nursing professionals following an informal training program in pediatric cardiopulmonary resuscitation: a repeated-measures quasiexperimental study.

Our objective was to compare the impact of a training program in pediatric cardiopulmonary resuscitation (CPR) on the knowledge and skills of in-service and preservice nurses at prespecified time points. This repeated-measures quasiexperimental study was conducted in the pediatric emergency and ICU of a tertiary care teaching hospital between January and March 2011. We assessed the baseline knowledge and skills of nursing staff (in-service nurses) and final year undergraduate nursing students (preservice nurses) using a validated questionnaire and a skill checklist, respectively.

The maya behind moyamoya--the two extremes of the disease.

Two children with moyamoya disease at the extremes of the disease- one with minimal clinical involvement and the other one with profound clinical features are reported with an interesting finding of the collaterals being the reason (maya) behind such varied presentations. To the best of authors' knowledge this is the first Indian report describing the reason behind the varied presentations of moyamoya disease.

Multiminicore disease with respiratory failure.

Multiminicore disease is a rare form of slowly progressive or nonprogressive myopathy, characterized by multiple cores within the muscle fibers. Respiratory failure in multiminicore disease rarely occurs. We describe a 5-year-old girl with multiminicore disease and early-onset respiratory failure after an episode of bronchopneumonia.