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. A cell-free DNA result positive for monosomy X may represent fetal Turner syndrome, maternal Turner syndrome, or confined placental mosaicism. A positive screen for monosomy X with discordant results of diagnostic fetal karyotype presents unique interpretation and management challenges because of potential implications for previously unrecognized maternal Turner syndrome. The current international consensus clinical practice guidelines for the care of individuals with Turner syndrome throughout the lifespan do not specifically address management of individuals with a cell-free DNA screen positive for monosomy X. This study aimed to provide context and expert-driven recommendations for maternal and/or fetal evaluation and management when cell-free DNA screening is positive for monosomy X. We highlight unique challenges of cell-free DNA screening that is incidentally positive for monosomy X, present recommendations for determining if the result is a true-positive, and discuss when diagnosis of Turner syndrome is applicable to the fetus vs the mother. Whereas we defer the subsequent management of confirmed Turner syndrome to the clinical practice guidelines, we highlight unique considerations for individuals initially identified through cell-free DNA screening.

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. We used the MBSRQ-AS instrument with 5 subscales: Appearance Evaluation (AE), Appearance Orientation (AO), Body Areas Satisfaction Scale (BASS), Overweight Preoccupation (OWP), and Self Classified Weight (SCW) subscales. Mean scores were compared with the available sex-matched population norms and compared between different subcohorts. RESULTS: Of 59 eligible girls, 37 girls agreed to participate with mean age 17.35 ± 1.6 years. Girls with TS had significantly lower scores than the sex-matched population norms in AO (mean [SD]: 3.32 [0.42] vs 3.91 [0.6]); P < .001) and SCW (mean [SD]: 3.26 [0.71] vs 3.57 [0.73]; P = .01) subscales. In contrast, they had slightly higher scores in BASS (mean [SD]: 3.38 [0.74] vs 3.23 [0.74]; P = .23) and OWP (mean [SD]: 3.12 [0.39] vs 3.03 [0.96]; P = .21) subscales though not statistically significant. Girls with classic 45X karyotype and those who were overweight/obese had lower scores in AE and AO subscales than the normal population (P < .05). CONCLUSION: Compared with sex-matched population norms, girls with TS are not reporting negative effects due to their appearance and report general satisfaction with most areas of their body; however, girls with TS with classic karyotype or who were obese/overweight were generally unhappy with their physical appearance. They also seem to not focus their attention on their appearance.

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. Trends in the prevalence of infants defined as RDS by ICD-9 code (ICD9-RDS), length of stay, BPD, and mortality were analyzed using Cochran-Armitage and Jonckheere-Terpstra tests and multivariable logistic regression. RESULTS: Of 1 526 186 preterm live births with GA ≤34 weeks, 554 409 had ICD9-RDS (260 cases per 1000 live births) with the prevalence increasing from 170 to 361 (Ptrend < 0.001) and associated decrease in all-cause mortality (7.6% to 6.1%; Ptrend < 0.001) from 2003 to 2014. Increased utilization of non-invasive mechanical ventilation (NIMV) (69.5% to 74.3%; Ptrend < 0.001) was associated with decreased invasive mechanical ventilation (IMV) use >96 h (60.4 to 56.6%; Ptrend < 0.001). Exclusive NIMV use increased from 16.8% to 29.1% (Ptrend < 0.0001). BPD incidence decreased from 14% to 12.5% (Ptrend < 0.001). LOS increased from 32 days to 38 days (Ptrend < 0.001) and cost increased from $49,521 to $55,394 (Ptrend < 0.001). CONCLUSION: From 2003 to 2014, the assigned ICD9-RDS diagnosis, and utilization of NIMV increased and mortality among infants assigned the ICD9-RDS diagnosis decreased. With higher survival, hospital cost increased incrementally, indicating the importance of ongoing analysis of appropriate reimbursement for the care provided at tertiary centers for preterm infants.

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. Here, we review these recent studies and emerging scientific evidence that suggest metabolic dysregulation may play a role in pediatric obesity-related asthma. We also review the genetic and epigenetic factors that may underlie susceptibility to metabolic dysregulation and associated pulmonary morbidity among children. Lastly, we identify knowledge gaps that need further exploration to better define pathways that will allow development of primary preventive strategies for obesity-related asthma in children.

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.

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 participants were then trained on pediatric CPR using standard guidelines. The knowledge and skills were reassessed immediately after training and at 6 weeks after training. A total of 74 participants-28 in-service and 46 preservice professionals-were enrolled. At initial assessment, in-service nurses were found to have insignificant higher mean knowledge scores (6.6 versus 5.8, P = 0.08) while the preservice nurses had significantly higher skill scores (6.5 versus 3.2, P < 0.001). Immediately after training, the scores improved in both groups. At 6 weeks however, we observed a nonuniform decline in performance in both groups-in-service nurses performing better in knowledge test (10.5 versus 9.1, P = 0.01) and the preservice nurses performing better in skill test (9.8 versus 7.4, P < 0.001). Thus, knowledge and skills of in-service and preservice nurses in pediatric CPR improved with training. In comparison to preservice nurses, the in-service nurses seemed to retain knowledge better with time than skills.

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. Of these, 10 culture samples grew ESBL-positive organisms and 62 samples grew ESBL-negative organisms. The frequency of ESBL-producing organisms was found to be 5.3%. ESBL infection incidence densities were found to be 3.4 per 1000 patient-days. Klebsiella (60%) was the most common organism producing ESBL followed by Escherichia coli (30%) and Pseudomonas (10%). Eighty percent of the ESBL-producing organisms were sensitive to piperacillin-tazobactam. Risk factors found significant by univariate analysis (P < 0.05) were preterm, low birthweight, perinatal asphyxia, respiratory distress syndrome, anaemia, metabolic acidosis, prolonged mechanical ventilation (>7 days), length of hospitalization, length of level 3 stay, prior antibiotic use, central venous catheter duration, peripherally inserted central venous catheter duration, and total parenteral nutrition duration. Factors that retained significance in the logistic regression model were duration of hospital stay (adjusted OR: 0.958, CI: 0.920-0.997, and P value = 0.037) and gestational age (adjusted OR: 1.39, CI: 1.037-1.865, and P value = 0.028). There was no significant difference in the mortality between the two groups.

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. The child received mechanical ventilation for 280 days and was discharged on home ventilation. The relevant literature is reviewed.