Comprehensive ZEB2 gene analysis for Mowat-Wilson syndrome in a North American cohort: a suggested approach to molecular diagnostics.

Mowat-Wilson syndrome is a genetic condition characterized by a recognizable facial phenotype in addition to moderate to severe cognitive disability with severe speech impairment and variable multiple congenital anomalies. The anomalies may include Hirschsprung disease, heart defects, structural eye anomalies including microphthalmia, agenesis of the corpus callosum, and urogenital anomalies. Microcephaly, seizure disorder and constipation are common.

Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome.

Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the X-linked MECP2 gene. Recently, a new MeCP2 isoform was described, MeCP2_e1, which skips exon 2 and has an alternative N-terminus, translated from exon 1, whereas MeCP2_e2 is translated from a start codon in exon 2. Since the incorporation of exon 1 into standard sequencing protocols for RTT, few exon 1 mutations have been described and are thus assumed to be only rare causes of RTT.

Decellularization reduces calcification while improving both durability and 1-year functional results of pulmonary homograft valves in juvenile sheep.

Objective: The juvenile sheep functional valve chronic implant calcification model was used to compare long-term calcification rates, functional performance, and durability for 3 types of right ventricular outflow tract implants: classically cryopreserved homografts and 2 decellularized pulmonary valved conduits.

Methods: Fifteen juvenile sheep were randomly assigned to one of 3 study arms and underwent pulmonary valve replacement. The arms included the following: (1) cryopreserved ovine pulmonary valves; (2) cryopreserved, decellularized, saline (1 degrees C-10 degrees C)-stored ovine pulmonary valves; and (3) cryopreserved, decellularized, glycerolized (-80 degrees C) stored ovine pulmonary valves.

Heat shock protein 27 protects lung epithelial cells from hyperoxia-induced apoptotic cell death.

Oxygen toxicity or hyperoxia is one of the major contributing factors in the development of bronchopulmonary dysplasia. Heat shock protein 27 (Hsp27) is an important chaperone protein in the postnatal lung development. However, the role of Hsp27 in lung epithelial cells during hyperoxia is unclear.

Single-dose pharmacokinetics of oral and intravenous pantoprazole in children and adolescents.

The primary objective was to determine the pharmacokinetics of single oral and intravenous doses of pantoprazole in children 2 to 16 years of age. The secondary objective was to assess the safety and tolerability of these doses. Male and female hospitalized and nonhospitalized patients from ages 5 to 16 years received single oral doses (20 mg or 40 mg), and those from ages 2 to 16 years received single intravenous doses (0.

Single-dose pharmacokinetics of roflumilast in children and adolescents.

Roflumilast is an orally administered phosphodiesterase 4 inhibitor that has potential for use in pediatric patients with asthma. The pharmacokinetics of roflumilast and roflumilast N-oxide were examined in adolescents and children with stable mild to moderate asthma in an open-label crossover study with age-stratification and 2 treatment periods (100-microg dose in period 1, 250-microg dose in period 2) separated by a washout period. Plasma concentrations were measured by high-performance liquid chromatography tandem mass spectrometry.

Strain differentiation of dermatophytes.

As molecular-based investigations begin to uncover the large degree of genetic variation that can exist within dermatophyte species, and population-based studies reveal exceedingly high rates of endemicity for these organisms, species typing has become inadequate to gain insight into these pathogens and the nature of the infections that they cause. This review examines studies that have applied strain typing strategies to explore intra-specific genetic diversity among the dermatophytes in attempts to address a number of relevant clinico-epidemiologic questions about these common fungal pathogens.

Examining Trichophyton tonsurans genotype and biochemical phenotype as determinants of disease severity in tinea capitis.

Trichophyton tonsurans infections occur in various host populations, on various body sites and with varying degrees of inflammation. This investigation was undertaken to determine whether fungal factors could explain the degree of severity in clinical symptomatology among infected children. Otherwise healthy children (n=54) presenting with tinea capitis were enrolled in this study.

Laparoscopic duodenal atresia repair using surgical U-clips: a novel technique.

Laparoscopic repair of duodenal atresia has been reported. Reports to date have indicated use of standard laparoscopic suturing and knot tying. Unfortunately, there has been a high leak rate associated with the technique.

Multilocus genotyping identifies infections by multiple strains of Trichophyton tonsurans.

Acquisition of multiple genetic strains of a single dermatophyte species should not be unexpected in areas of high endemicity, and yet multistrain infections are infrequently reported. This communication details mixed Trichophyton tonsurans infections and highlights the need to confirm the presence of multiple strains in a clinical single isolate by use of a multilocus approach.

Considerations in the rational design and conduct of phase I/II pediatric clinical trials: avoiding the problems and pitfalls.

Over the past decade, there has been a heightened awareness of the need to include children in the drug development process. With this awareness has come an expansion of the infrastructure for conducting studies in children and an increase in the sponsorship of pediatric clinical trials. However, the growth in pediatric research has, in many cases, not been accompanied by an increase in the involvement of trained pediatric investigators when it comes to trial design and/or interpretation.

Dilation efficacy: is 1% cyclopentolate enough?

Background: Pediatric eye examinations include cycloplegia and dilation. Most clinicians use 2 or 3 different medications in drop or spray form to ease instillation. We studied whether a single drop of a cycloplegic agent would provide effective dilation as well.

Sampling for indoor fungi: what the clinician needs to know.

Purpose Of Review: A great deal of concern has arisen recently regarding the potential adverse effects of indoor fungi. Our understanding of this complex problem has been hampered by a lack of standardized protocols for performing an indoor assessment for fungi. Without such standards, it is difficult to compare results from one study with those from another or to measure the effect of indoor fungal contamination on a building and its occupants.

Ontogeny of drug metabolizing enzymes in the neonate.

Fetal exposure to xenobiotics is modulated to a considerable degree by the metabolic capabilities of the mother and the placenta. However, once liberated from the uterine environment the neonate is instantly exposed to a wide array of new macromolecules in the form of byproducts of cellular metabolism, dietary constituents, environmental toxins and pharmacologic agents. The rapid and efficient biotransformation of these compounds by Phase I and Phase II drug-metabolizing enzymes is an essential process if the infant is to avoid the accumulation of reactive compounds that could produce cellular injury or tissue dysfunction.

Comparison of various urine collection intervals for caffeine and dextromethorphan phenotyping in children.

Caffeine and dextromethorphan have been used successfully both alone and in combination to assess phenotype and enzyme activity in children of various ages. Previous pediatric phenotyping studies with these agents have used varying durations of urine collection. However, the minimum duration required for accurate phenotypic assessment with these compounds in children remains unknown.

Activities of cytochrome P450 1A2, N-acetyltransferase 2, xanthine oxidase, and cytochrome P450 2D6 are unaltered in children with cystic fibrosis.

The activities of hepatic cytochrome P450 (CYP) 1A2, N-acetyltransferase 2 (NAT-2), xanthine oxidase (XO), and CYP2D6 were evaluated in 12 young children (aged 3-8 years) with mild cystic fibrosis (CF) and 12 age-matched healthy control subjects by use of standard caffeine and dextromethorphan phenotyping methods. Subjects were given 4 oz of Coca-Cola (approximately 35 mg caffeine) (The Coca-Cola Company, Atlanta, Ga) and a single 0.5-mg/kg dose of dextromethorphan.

Five new subjects with ring chromosome 22.

Ring chromosome 22, a rare cytogenetic finding, was first described by Weleber et al. in 1968. Since then approximately 50 patients have been reported in the medical literature.

SPONASTRIME dysplasia: report of an 11-year-old boy and review of the literature.

SPONASTRIME (SPOndylar and NAsal changes, with STRIations of the MEtaphyses) dysplasia is a rare, autosomal recessive bone disorder first described by Fanconi et al. [1983: Helv Paediatr Acta 38:267-280]. Radiographic findings include abnormal vertebral bodies with age-dependent changes, and striations of the metaphyses, scoliosis, and retarded ossification of the carpal bones.