Chronic myeloproliferative neoplasm in adulthood in CBL syndrome harboring a splice-site variant alongside a novel constitutional variant.

Casitas B-cell lineage (CBL) syndrome is a rare RASopathy known to predispose to CBL-mutated juvenile myelomonocytic leukemia (JMML) in childhood. Adulthood acute myeloid leukemia arising out of a genetic aberrancies consistent with prior CBL-mutated JMML has been twice previously described, but chronic myeloproliferative neoplasia has not. We present a case of progressive myeloproliferative neoplasm in adulthood in the context of CBL syndrome alongside a novel CSF3R variant.

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.

Purpose: Genetic variants causing aberrant premessenger RNA splicing are increasingly being recognized as causal variants in genetic disorders. In this study, we devise standardized practices for polymerase chain reaction (PCR)-based RNA diagnostics using clinically accessible specimens (blood, fibroblasts, urothelia, biopsy).

Methods: A total of 74 families with diverse monogenic conditions (31% prenatal-congenital onset, 47% early childhood, and 22% teenage-adult onset) were triaged into PCR-based RNA testing, with comparative RNA sequencing for 19 cases.

Effectiveness of a Pre-emptive Preoperative Belladonna and Opium Suppository on Postoperative Urgency and Pain After Ureteroscopy.

Purpose: Postoperative ureteroscopy patients can develop bladder spasms, complaints of pain, and the urgent need to void during emergence from anesthesia. Discomfort leads to patient agitation, resulting in a risk to patient safety. The purpose of this study was to determine the effectiveness of a preemptive preoperative belladonna and opium (B + O) suppository on postoperative bladder comfort, narcotic requirements, and length of stay of ureteroscopy patients.

KBG syndrome: An Australian experience.

In 2011, heterozygous mutations in the ANKRD11 gene were identified in patients with KBG syndrome. Since then, 100 cases have been described with the expansion of the clinical phenotype. Here we present 18 KBG affected individuals from 13 unrelated families, 16 with pathogenic mutations in the ANKRD11 gene.

A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.

Type 2 collagen disorders encompass a diverse group of skeletal dysplasias that are commonly associated with orthopedic, ocular, and hearing problems. However, the frequency of many clinical features has never been determined. We retrospectively investigated the clinical, radiological, and genotypic data in a group of 93 patients with molecularly confirmed SEDC or a related disorder.

Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients.

Background: Several retinal dystrophies are associated with syndromic features including such conditions as Bardet-Biedl and Joubert syndromes. Cohen syndrome is an autosomal recessive disorder associated with multiple clinical manifestations including developmental delay, acquired microcephaly, myopia, pigmentary retinopathy, joint hypermobility, truncal obesity, friendly disposition and intermittent neutropenia. In young patients, diagnosis is difficult, because several of the characteristic features may not be present until school age or later years and the intermittent neutropenia is not always detectable.

ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome.

Mowat-Wilson syndrome (MWS) is a severe intellectual disability (ID)-distinctive facial gestalt-multiple congenital anomaly syndrome, commonly associating microcephaly, epilepsy, corpus callosum agenesis, conotruncal heart defects, urogenital malformations and Hirschsprung disease (HSCR). MWS is caused by de novo heterozygous mutations in the ZEB2 gene. The majority of mutations lead to haplo-insufficiency through premature stop codons or large gene deletions.

Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.

From data collected via a large international collaborative study, we have constructed a growth chart for patients with molecularly confirmed congenital spondylo-epiphyseal dysplasia (SEDC) and other COL2A1 related dysplasias. The growth chart is based on longitudinal height measurements of 79 patients with glycine substitutions in the triple-helical domain of COL2A1. In addition, measurements of 27 patients with other molecular defects, such as arginine to cysteine substitutions, splice mutations, and mutations in the C-terminal propeptide have been plotted on the chart.

Cooperative m-learning with nurse practitioner students.

New technologies give nurse academicians the opportunity to incorporate innovative teaching-learning strategies into the nursing curricula. Mobile technology for learning, or m-learning, has considerable potential for the nursing classroom but lacks sufficient empirical evidence to support its use. Based on Mayer's multimedia learning theory, the effect of using cooperative and interactive m-learning techniques in enhancing classroom and clinical learning was explored.

A rubric for improving the quality of online courses.

All of the graduate students in the School of Nursing take some of their Master of Science courses online. A group of six School of Nursing faculty members and a graduate student received funding to determine best practices in online courses. The group developed an evaluation rubric to measure quality in the graduate online curriculum.

Identification of meningococcal genes necessary for colonization of human upper airway tissue.

Neisseria meningitidis is an exclusively human pathogen that has evolved primarily to colonize the nasopharynx rather than to cause systemic disease. Colonization is the most frequent outcome following meningococcal infection and a prerequisite for invasive disease. The mechanism of colonization involves attachment of the organism to epithelial cells via bacterial type IV pili (Tfp), but subsequent events during colonization remain largely unknown.

Predictors of preterm birth in birth certificate data.

Demographic factors have been shown to be moderate predictors of preterm birth in prior studies which used hospital databases and epidemiologic sample surveys. This retrospective study used de-identified 2003 North Carolina birth certificate data (n=73,040) and replicated the statistical and computational methods used in a prior study of an academic medical center's data warehouse. Receiver Operating Characteristics (ROC) curves were used to compare results across methods.

An innocuous duplication of 11.2 Mb at 13q21 is gene poor: sub-bands of gene paucity and pervasive CNV characterize the chromosome anomalies.

A boy with autistic spectrum disorder without dysmorphisms was found to have a chromosome duplication of part of band 13q21. His mother and grandfather both of normal intellect had the same chromosomal duplication. Comparison was made with the Chromosome anomaly database www.

Neisseria meningitidis lactate permease is required for nasopharyngeal colonization.

Neisseria meningitidis is a human specific pathogen that is part of the normal nasopharyngeal flora. Little is known about the metabolic constraints on survival of the meningococcus during colonization of the upper airways. Here we show that glucose and lactate, both carbon energy sources for meningococcal growth, are present in millimolar concentrations within nasopharyngeal tissue.

Infusing PDA technology into nursing education.

Use of the personal digital assistant (PDA) has been infused into the accelerated baccalaureate program at Duke University to help prepare nursing students for professional practice. The authors provide an overview of the use of PDAs in the classroom, laboratory, and clinical setting. Technical aspects of PDA infusion and steps to ensure regulatory compliance are explored.