Cinacalcet as adjunctive therapy in pseudohypoparathyroidism type 1b.

Background: In patients with pseudohypoparathyroidism type 1b (PHP1b) due to a tissue-specific imprinting defect in the G-protein α-subunit, skeletal disorders can arise from the bones being sensitive to parathyroid hormone (PTH) while the kidneys remain resistant to this hormone.

Case-diagnosis/treatment: We report a 4.8-year-old girl with PHP1b who presented with an abnormal gait, severe skeletal changes and elevated levels of serum PTH (2844 pg/ml), phosphate (7.

Motivational Interviewing to Reduce Substance Use in Adolescents with Psychiatric Comorbidity.

Substance use among adolescents with one or more psychiatric disorders is a significant public health concern. In this study, 151 psychiatrically hospitalized adolescents, ages 13-17 with comorbid psychiatric and substance use disorders, were randomized to a two-session Motivational Interviewing intervention to reduce substance use plus treatment as usual (MI) vs. treatment as usual only (TAU).

Safety and Effectiveness of Whole Body Cooling Therapy for Neonatal Encephalopathy on Transport.

Objective: The purpose of this study was to evaluate the safety and effectiveness of a transport protocol using active and passive methods for therapeutic whole body cooling of the neonate with hypoxic-ischemic encephalopathy.

Methods: A retrospective study of neonates who received whole body cooling during transport by our pediatric/neonatal transport team between December 2008 and April 2012 was conducted.

Results: Sixty-three of 66 (95%) neonates arrived within a safety temperature range of 33.

Secondary solid cancer screening following hematopoietic cell transplantation.

Hematopoietic stem cell transplant (HCT) recipients have a substantial risk of developing secondary solid cancers, particularly beyond 5 years after HCT and without reaching a plateau overtime. A working group was established through the Center for International Blood and Marrow Transplant Research and the European Group for Blood and Marrow Transplantation with the goal to facilitate implementation of cancer screening appropriate to HCT recipients. The working group reviewed guidelines and methods for cancer screening applicable to the general population and reviewed the incidence and risk factors for secondary cancers after HCT.

Insulin Resistance, Metabolic Syndrome, and Polycystic Ovary Syndrome in Obese Youth.

School nurses are well aware of the childhood obesity epidemic in the United States, as one in three youth are overweight or obese. Co-morbidities found in overweight or obese adults were not commonly found in youth three decades ago but are now increasingly "normal" as the obesity epidemic continues to evolve. This article is the second of six related articles discussing the co-morbidities of childhood obesity and discusses the complex association between obesity and insulin resistance, metabolic syndrome, and polycystic ovary syndrome.

Primary-care providers' perceived barriers to integration of genetics services: a systematic review of the literature.

Purpose: We aimed to systematically review the literature to identify primary-care providers' perceived barriers against provision of genetics services.

Methods: We systematically searched PubMed and ERIC using key and Boolean term combinations for articles published from 2001 to 2012 that met inclusion/exclusion criteria. Specific barriers were identified and aggregated into categories based on topic similarity.

Predicting death or tracheostomy placement in infants with severe bronchopulmonary dysplasia.

Objective: To estimate the risk of death or tracheostomy placement (D/T) in infants with severe bronchopulmonary dysplasia (sBPD) born < 32 weeks' gestation referred to regional neonatal intensive care units.

Study Design: We conducted a retrospective cohort study in infants born < 32 weeks' gestation with sBPD in 2010-2011, using the Children's Hospital Neonatal Database. sBPD was defined as the need for FiO2 ⩾ 0.

Altered pulmonary lymphatic development in infants with chronic lung disease.

Pulmonary lymphatic development in chronic lung disease (CLD) has not been investigated, and anatomy of lymphatics in human infant lungs is not well defined. Hypothesis. Pulmonary lymphatic hypoplasia is present in CLD.

Family history and clefting as major criteria for CHARGE syndrome.

CHARGE syndrome is an autosomal dominant malformation syndrome associated with mutations in CHD7. The condition is typically sporadic with few familial cases reported. The diagnosis of CHARGE syndrome is based on a combination of major and minor criteria comprised of structural and functional abnormalities, most of which are part of the original CHARGE acronym, although additional anomalies have been added.

The role of human cytochrome P450 enzymes in the formation of 2-hydroxymetronidazole: CYP2A6 is the high affinity (low Km) catalyst.

Despite metronidazole's widespread clinical use since the 1960s, the specific enzymes involved in its biotransformation have not been previously identified. Hence, in vitro studies were conducted to identify and characterize the cytochrome P450 enzymes involved in the formation of the major metabolite, 2-hydroxymetronidazole. Formation of 2-hydroxymetronidazole in human liver microsomes was consistent with biphasic, Michaelis-Menten kinetics.

Inherited polyneuropathies.

The large degree of clinical heterogeneity within each of the major categories of inherited neuropathies can lead to difficulties in making correct diagnoses based on clinical findings alone. The observation of key clinical findings coupled with electrophysiological findings and understanding of inheritance patterns, should allow the clinician to make judicious use of genetic testing to confirm the clinical diagnosis. An understanding of the clinical and electrophysiological nature of these disorders, as well as an understanding of how to clinically distinguish the inherited conditions from acquired conditions, is imperative to this process.

Health-related quality of life, depression, and metabolic parameters in overweight insulin-resistant adolescents.

Introduction: The purpose of this study was to examine the incidence and severity of depression and health-related quality of life (HRQoL) in youth with insulin resistance (IR) who are overweight/obese and to examine the impact on making lifestyle changes.

Method: New patients presenting for treatment in an IR clinic were screened for depression and HRQoL and reassessed twice during a 1-year treatment period. Metabolic and growth parameters were obtained for each participant.

Effect of a significant other on client change talk in motivational interviewing.

Objective: To examine significant-other (SO) and therapist behaviors as predictors of client change language within motivational interviewing (MI) sessions.

Method: Participants from an emergency department received a single session of MI that included SO participation (N = 157). Sessions were coded using therapy process coding systems.

Vitamin D status of children receiving chronic dialysis.

Background: Patients receiving chronic dialysis therapy are presumed to be at risk for 25(OH) D(3) deficiency, but little information is available on its prevalence, manifestations of deficiency, and the impact of ergocalciferol supplementation.

Methods: A single-center, retrospective study of 51 prevalent pediatric patients on hemodialysis or peritoneal dialysis was conducted to address these issues.

Results: Forty of 51 (78.

Impact of divorce on children: developmental considerations.

Although divorce can have significant negative impact on children, a variety of protective factors can increase the likelihood of long-term positive psychological adjustment. • Exposure to high levels of parental conflict is predictive of poor emotional adjustment by the child regardless of the parents' marital status. • Epidemiologic data reveal that custody and parenting arrangements are evolving, with more emphasis on joint custody and access to both parents by the child.

The correlation of fluid balance changes during cardiopulmonary bypass to mortality in pediatric and congenital heart surgery patients.

Edema acquired during the perioperative period has long been associated with increased mortality. Edema acquired during cardiopulmonary bypass (CPB) may contribute to this mortality. The intent of this retrospective study was to test the premise that edema in the form of a positive fluid balance change (FBC) acquired during CPB correlated to mortality.

Advances in pediatric renal replacement therapy.

Advances in the understanding and clinical application of hemodialysis, peritoneal dialysis, and continuous renal replacement therapy have resulted in strategies designed to further improve their safety and efficacy. These advances have been particularly important to children, in whom a variety of clinical and technical issues must be taken into consideration for optimum dialysis across a broad spectrum of patient size and need. This manuscript reviews recent data pertaining to the use of renal replacement therapy, with an emphasis on those aspects of dialysis management that are especially pertinent to pediatric ESRD and acute kidney injury care.

Pulmonary function testing in young children.

Pulmonary function testing (PFT) is of great importance in the evaluation and treatment of respiratory diseases. Spirometry is simple, noninvasive, and has been the most commonly used technique in cooperative children, obtaining reliable data in only a few minutes. The development of commercially available equipment as well as the simplification of previous techniques that now require minimal patient cooperation applied during tidal breathing have significantly stimulated the use of PFT in younger children.

Interexaminer agreement in physical examination for children with suspected soft tissue abscesses.

Objective: This study aimed to measure interexaminer agreement for physical examination (PE) findings in children with a suspected soft tissue abscess.

Methods: A prospective study was conducted from March 1 to July 31, 2007, at an urban, tertiary care children's hospital emergency department. Children presenting to the emergency department with a suspected local skin abscess were independently examined by 2 physicians.

Pediatric cardiopulmonary bypass adaptations for long-term survival of baboons undergoing pulmonary artery replacement.

Cardiopulmonary bypass (CPB) protocols of the baboon (Papio cynocephalus anubis) are limited to obtaining experimental data without concern for long-term survival. In the evaluation of pulmonary artery tissue engineered heart valves (TEHVs), pediatric CPB methods are adapted to accommodate the animals' unique physiology enabling survival up to 6 months until elective sacrifice. Aortic access was by a 14F arterial cannula and atrial access by a single 24F venous cannula.

Identifying neonatal and pediatric cardiac and congenital diaphragmatic hernia extracorporeal membrane oxygenation patients at increased mortality risk.

Unlabelled: A previous review from our institution established clinically measured cut-points that defined the late implementation of extracorporeal membrane oxygenation (ECMO) correlating to increased mortality in neonatal and pediatric respiratory patients. Using the same methods, this review evaluates pediatric and neonatal cardiac and congenital diaphragmatic hernia (CDH) patients to determine if the same cut-points exist in this higher risk patient population. Neonatal and pediatric cardiac and CDH patients placed on ECMO between November 1989 and December 2008 were retrospectively reviewed to determine the first adjusted anion gap (AGc), the first venoarterial carbon dioxide (CO2) gradient (p[v-a]CO2), and the first Viability Index (AGc + p[v-a]CO2 = INDEX) on ECMO.

Comparative analysis of secreted enzymes between the anthropophilic-zoophilic sister species Trichophyton tonsurans and Trichophyton equinum.

Trichophyton tonsurans (TT) and Trichophyton equinum (TE) are two closely related dermatophytes with very different host preferences. This study was designed to examine the genetic and transcript level variations of secreted enzymes between TT and TE. Thirty-one genes representing 10 gene families were selected for comparison and complete genomic and cDNA sequences were elucidated.

The nonfenestrated extracardiac Fontan procedure: a cohort of 145 patients.

Background: There are limited data available on the outcomes of single-ventricle patients who have undergone a nonfenestrated extracardiac Fontan procedure. This study examined the clinical experience of a large cohort of patients from a single institution who received this procedure.

Methods: A retrospective data set of 145 patients who underwent a nonfenestrated extracardiac Fontan procedure from July 1997 to September 2008 was reviewed.