Pediatrics Commons^™

The Clinical Outcome Study For Dysferlinopathy, Elizabeth Harris, Catherine Bladen, Anna Mayhew, Meredith James, Karen Bettinson, Avital Cnaan, The Jain Cos Consortium

Pediatrics Faculty Publications

Objective: To describe the baseline clinical and functional characteristics of an international cohort of 193 patients with dysferlinopathy.

Methods: The Clinical Outcome Study for dysferlinopathy (COS) is an international multicenter study of this disease, evaluating patients with genetically confirmed dysferlinopathy over 3 years. We present a cross-sectional analysis of 193 patients derived from their baseline clinical and functional assessments.

Results: There is a high degree of variability in disease onset, pattern of weakness, and rate of progression. No factor, such as mutation class, protein expression, or age at onset, accounted for this variability. Among patients with clinical diagnoses of Miyoshi …

Incidence Of X And Y Chromosomal Aneuploidy In A Large Child Bearing Population., Carole Samango-Sprouse, Eser Kırkızlar, Megan P Hall, Patrick Lawson, Zachary Demko, Susan M Zneimer, Kirsten J Curnow, Susan Gross, Andrea Gropman

Pediatrics Faculty Publications

BACKGROUND: X&Y chromosomal aneuploidies are among the most common human whole-chromosomal copy number changes, but the population-based incidence and prevalence in the child-bearing population is unclear.

METHODS: This retrospective analysis of prospectively collected data leveraged a routine non-invasive prenatal test (NIPT) using parental genotyping to estimate the population-based incidence of X&Y chromosome variations in this population referred for NIPT (generally due to advanced maternal age).

RESULTS: From 141,916 women and 29,336 men, 119 X&Y chromosomal abnormalities (prevalence: 1 in 1,439) were identified. Maternal findings include: 43 cases of 45,X (40 mosaic); 30 cases of 47,XXX (12 mosaic); 3 cases of …

Examination Of Reticulocytosis Among Chronically Transfused Children With Sickle Cell Anemia., Megha Kaushal, Colleen Byrnes, Zarir Khademian, Natalie Duncan, Naomi L.C. Luban, Jeffery L Miller, Ross M. Fasano, Emily Riehm Meier

Pediatrics Faculty Publications

Sickle cell anemia (SCA) is an inherited hemolytic anemia with compensatory reticulocytosis. Recent studies have shown that increased levels of reticulocytosis during infancy are associated with increased hospitalizations for SCA sequelae as well as cerebrovascular pathologies. In this study, absolute reticulocyte counts (ARC) measured prior to transfusion were analysed among a cohort of 29 pediatric SCA patients receiving chronic transfusion therapy (CTT) for primary and secondary stroke prevention. A cross-sectional flow cytometric analysis of the reticulocyte phenotype was also performed. Mean duration of CTT was 3.1 ± 2.6 years. Fifteen subjects with magnetic resonance angiography (MRA) -vasculopathy had significantly higher …

Introduction To Bioethics Special Supplement V: Ethical Issues In Genomic Testing Of Children., John D. Lantos

Manuscripts, Articles, Book Chapters and Other Papers

Next-generation genome sequencing of children is one of the most promising and most challenging new technologies in pediatrics. On the one hand, it offers the hope that we will be able to diagnose rare conditions that were previously impossible to diagnose, which, in turn, might lead to new treatments. On the other hand, the technology for sequencing presents daunting problems of interpretation. It is problematic to conduct the research necessary to characterize the pathogenicity of those variants at the same time that we are using them to guide the clinical care of children who have complex medical problems. It is …

Whole-Genome Sequencing And Disability In The Nicu: Exploring Practical And Ethical Challenges., Michael J. Deem

Manuscripts, Articles, Book Chapters and Other Papers

Clinical whole-genome sequencing (WGS) promises to deliver faster diagnoses and lead to better management of care in the NICU. However,several disability rights advocates have expressed concern that clinical use of genetic technologies may reinforce and perpetuate stigmatization of and discrimination against disabled persons in medical and social contexts. There is growing need, then, for clinicians and bioethicists to consider how the clinical use of WGS in the newborn period might exacerbate such harms to persons with disabilities. This article explores ways to extend these concerns to clinical WGS in neonatal care. By considering these perspectives during the early phases of …

The Challenge Of Analyzing The Results Of Next-Generation Sequencing In Children., Isabelle Thiffault, John Lantos

Manuscripts, Articles, Book Chapters and Other Papers

In recent years, next-generation sequencing technologies have revolutionized approaches to genetic studies. Whole-exome or whole-genome sequencing allows diagnoses in many patients who have complex phenotypes and unusual clinical presentations. As genomic and exomic testing expands in both the research and clinical settings, pediatricians will need to understand the technology of next-generation sequencing and the complexity of interpreting genomic variants relevant to patient phenotypic features. This article briefly explains the technology by which genomes are sequenced and discusses some of the complexity related to interpreting genomic variants. We conclude with some thoughts on the clinical applications of such testing.

What Lies Past Remission: The Perceived Late Effects Of Pediatric Cancer, Monica L. Molinaro

Theses and Dissertations (Comprehensive)

Objective

Pediatric cancer survival rates are increasing (Childhood Cancer Canada Foundation, 2011) and with this, so are the late effects of pediatric cancer (Oeffinger et al., 2006). This research examines the lived experiences of the perceived long-term effects of pediatric cancer on adult survivors and their primary support persons in order to understand the multifaceted nature of the illness on adults, and how it affects others close to them.

Methods

The theoretical orientation used to guide the research was phenomenology in order to present an accurate depiction of all the participants’ lived experiences. Specifically, background questionnaires were administered and one-on-one …

Childhood Obesity, A Public Health Crisis: Narrative Review Of Public Health Interventions For Childhood Obesity, Sumera Aziz Ali, Savera Aziz Ali, Nadir Suhail, Shiyam Sunder Tikmani, Gulshan Bano

Community Health Sciences

Introduction: Child obesity is the major pediatric public health crisis of the current century and its trend is increasing in the developing countries due to nutrition and epidemiologic transition. Considering the burden of childhood obesity and its associated outcomes need for obesity prevention in children has become priority both for government and researchers.
Objective: The objective of this review is to provide the updated knowledge and evidence from various research studies, designed to provide interventions either in school or at home.
Methodology: Electronic databases like Google scholar, PubMed and Sciencedirect were used as search engines. Key terms used during the …

Effect Of Mobile Phone Text Messages Reminders On Uptake Of Routine Immunization Among Children In Pakistan- Study Protocol For A Randomized Clinical Trial, Abdul Momin Kazi, Murtaza Ali, Khurram Zubair, Hussain Kalimuddin, Syed Asad Ali

Department of Paediatrics and Child Health

Introduction: Routine Immunization (RI) is considered one of the best public health interventions to decrease child morbidity and mortality. The RI coverage in Pakistan is still well below the desired level, leading to continued polio transmission, large measles outbreaks and thousands of deaths from vaccine-preventable illnesses. Different innovative and cost effective strategies are required to look into for enhancement in vaccination uptake and coverage. We plan to test the effectiveness of reminders to parents/caregivers on cell phones through short messaging system (SMS) in improving vaccine uptake and on-time routine immunization for children in Pakistan.
Methods and Analysis: A parallel-randomized controlled …

Hereditary Sensory Autonomic Neuropathy Ii, A Rare Disease In A Large Pakistani Family, Fazal M. Arain, Prem Chand

Department of Paediatrics and Child Health

Hereditary Sensory Autonomic Neuropathy II (HSAN II) is a rare genetic disorder, characterized by severe loss of pain, temperature and touch sensation. Injuries in these patients can progress to necrosis and shedding of digits and limbs. Here we report two cases of HSAN II belonging to a Pakistani family. Individual 1, a forty five year old man, had complete loss of pain sensation since birth. Self-mutilation and complication of injuries resulted in the shedding of all the digits and right foot and surgical amputation of left leg. Individual 2, a five year old girl,had delay in healing of wounds and …

Pathogen-Specific Burdens Of Community Diarrhoea In Developing Countries: A Multisite Birth Cohort Study (Mal-Ed), Sadia Shakoor, Shahida Qureshi, Furqan Kabir, Anita K. M. Zaidi, Zulfiqar Ahmed Bhutta, Imran Ahmed, Didar Alam, Syed Asad Ali, Muneera Rasheed, Sajid Bashir Soofi, Ali Turab, Aisha Khizar Yousafzai

Department of Pathology and Laboratory Medicine

Background: Most studies of the causes of diarrhoea in low-income and middle-income countries have looked at severe disease in people presenting for care, and there are few estimates of pathogen-specific diarrhoea burdens in the community.
Methods: We undertook a birth cohort study with not only intensive community surveillance for diarrhoea but also routine collection of non-diarrhoeal stools from eight sites in South America, Africa, and Asia. We enrolled children within 17 days of birth, and diarrhoeal episodes (defined as maternal report of three or more loose stools in 24 h, or one loose stool with visible blood) were identified through …

Comparing Functional Motor Control And Gait Parameters In Children With Autism To Those Of Age-Matched Peers Who Are Typically Developing, Patricia Stevenson, Samantha Novotny, Jillian May, Christopher Ancell

UNLV Theses, Dissertations, Professional Papers, and Capstones

The purpose of this study was to compare motor performance of children with Autism Spectrum Disorder (ASD) to that of age-matched peers who are typically developing (TD) on motor control tasks plus symmetry and variability of gait parameters across four walking conditions. A sample of convenience of children with ASD (n=6) and peers who are TD (n=6) were recruited. Motor control was assessed using initiation and completion times on the Timed Up and Go (TUG) test. Gait parameters were collected using a computerized walkway under four trial conditions: 1) walking at self-selected velocity (SSV); 2) walking during a tray-carrying task …

Extraordinary Diversity Of Immune Response Proteins Among Sea Urchins: Nickel-Isolated Sp185/333 Proteins Show Broad Variations In Size And Charge., Lauren S. Sherman, Catherine S. Schrankel, Kristy J. Brown, L. Courtney Smith

Pediatrics Faculty Publications

Effective protection against pathogens requires the host to produce a wide range of immune effector proteins. The Sp185/333 gene family, which is expressed by the California purple sea urchin Strongylocentrotus purpuratus in response to bacterial infection, encodes a highly diverse repertoire of anti-pathogen proteins. A subset of these proteins can be isolated by affinity to metal ions based on multiple histidines, resulting in one to four bands of unique molecular weight on standard Western blots, which vary depending on the individual sea urchin. Two dimensional gel electrophoresis (2DE) of nickel-isolated protein samples followed by Western blot was employed to detect …

Making The Leap From Research Laboratory To Clinic: Challenges And Opportunities For Next-Generation Sequencing In Infectious Disease Diagnostics., Brittany Goldberg, Heike Sichtig, Chelsie Geyer, Nathan Ledeboer, George M Weinstock

Pediatrics Faculty Publications

Next-generation DNA sequencing (NGS) has progressed enormously over the past decade, transforming genomic analysis and opening up many new opportunities for applications in clinical microbiology laboratories. The impact of NGS on microbiology has been revolutionary, with new microbial genomic sequences being generated daily, leading to the development of large databases of genomes and gene sequences. The ability to analyze microbial communities without culturing organisms has created the ever-growing field of metagenomics and microbiome analysis and has generated significant new insights into the relation between host and microbe. The medical literature contains many examples of how this new technology can be …

Should Sports Drinks Be Given To Children And Adolescents Engaged In Athletics As An Effective Source Of Hydration?, Zeev W. Rubinson

The Science Journal of the Lander College of Arts and Sciences

Dehydration in children and adolescents is a major concern for caretakers. Often children are not drinking enough, particularly while participating in physical activity. Utilizing data drawn from pediatricians, nutritionists, and bio-scientists, this paper will examine whether sports drinks are a good source of fluids for the exercising child. The results of the research indicate that the advantages generally associated with sports drinks, to achieve higher body water absorption levels, prevent electrolyte deficits, and maintain proper electrolyte/water concentrations, are reserved for unique circumstances. Sports drink intake should be encouraged only when the child is participating in prolonged physical activity, in intense …

Infant Feeding Practices Of Emirati Women In The Rapidly Developing City Of Abu Dhabi, United Arab Emirates, Hazel Gardner, Katherine Green, Andrew Gardner

Research outputs 2014 to 2021

Rapid economic and cultural transition in the United Arab Emirates (UAE) has been accompanied by new challenges to public health; most notably a rapid rise in chronic disease. Breastfeeding is known to improve health outcomes in adulthood, is associated with reduced risk of developing chronic disease, and is therefore an important public health issue for this rapidly increasing population. Factors associated with infant feeding practices were examined in a cohort of 125 Emirati women and their infants, with data collected at birth and 3, 6 and 15 months postpartum by questionnaires and interviews. Participants were recruited in the Corniche Hospital, …

Resveratrol And Cancer: Focus On In Vivo Evidence, Lindsay G. Carter, John A. D'Orazio, Kevin J. Pearson

Graduate Center for Nutritional Sciences Faculty Publications

Resveratrol is a naturally occurring polyphenol that provides a number of anti-aging health benefits including improved metabolism, cardioprotection, and cancer prevention. Much of the work on resveratrol and cancer comes from in vitro studies looking at resveratrol actions on cancer cells and pathways. There are, however, comparatively fewer studies that have investigated resveratrol treatment and cancer outcomes in vivo, perhaps limited by its poor bioavailability when taken orally. Although research in cell culture has shown promising and positive effects of resveratrol, evidence from rodents and humans is inconsistent. This review highlights the in vivo effects of resveratrol treatment on breast, …

Cystic Echinococcoses In Mongolia: Molecular Identification, Serology And Risk Factors, Akira Ito, Temuulen Dorjsuren, Anu Davaasuren, Tetsuya Yanagida, Yasuhito Sako, Kazuhiro Nakaya, Minoru Nakao, Oyun-Erdene Bat-Ochir, Tsendjav Ayushkhuu, Narantuya Bazarragchaa, Nyamkhuu Gonchigsengee, Tiaoying Li, Gurbadam Agvaandaram, Abmed Davaajav, Chinchuluun Boldbaatar, Gantigmaa Chuluunbaatar

Harold W. Manter Laboratory of Parasitology: Library Materials

Abstract

Background

Cystic echinococcosis (CE) is a globally distributed cestode zoonosis that causes hepatic cysts. Although Echinococcus granulosus sensu stricto (s.s.) is the major causative agent of CE worldwide, recent molecular epidemiological studies have revealed that E. canadensis is common in countries where camels are present. One such country is Mongolia.

Methodology/Principal Findings

Forty-three human hepatic CE cases that were confirmed histopathologically at the National Center of Pathology (NCP) in Ulaanbaatar (UB) were identified by analysis of mitochondrial cox1 gene as being caused by either E. canadensis (n = 31, 72.1%) or E. granulosus s.s. ( …

The Relationship Among School Playground Design And Conditions And Physical Activity Levels In Children, Ipuna Estavillo Black

UNLV Theses, Dissertations, Professional Papers, and Capstones

Almost 20% of children aged 6 to 11 years are obese in the United States, tripling over the last ten years. The rise in childhood obesity challenges nurses in their efforts to improve community health and sustainability. A decrease in physical activity (PA) levels has been associated with an increase in obesity. Schools have been identified as a primary setting to provide children adequate amounts of daily PA, and nurses working in the area of child health promotion can work with schools to provide opportunities for children to increase PA levels. The playground is one environment where children can increase …

The Baby Friendly Hospital Initiative, Kathryn E. Brackett

Senior Honors Theses

Abstract

The Baby-Friendly Hospital Initiative (BFHI) is a worldwide movement started by the World Health Organization (WHO) and the United Nations Children’s Fund (UNICEF) that is aimed at providing hospitals with a certification that guarantees the best possible patient-centered care for mothers and infants. It focuses on breastfeeding as optimal infant nutrition, and implements strategies to encourage and support mothers to breastfeed their infants exclusively for six months after birth. The Ten Steps to Successful Breastfeeding are a set of 10 simple, easy to understand guidelines developed by WHO and UNICEF for implementing this initiative in the hospital setting and …

Superresolution Imaging Of Human Cytomegalovirus Vmia Localization In Sub-Mitochondrial Compartments, Shivaprasad Bhuvanendran, Kyle Salka, Kristen Rainey, Sen Chandra Sreetama, Elizabeth Williams, Margretha Leeker, Vidhya Prasad, Jonathan Boyd, George H. Patterson, Jyoti K. Jaiswal, Anamaris M. Colberg-Poley

Pediatrics Faculty Publications

The human cytomegalovirus (HCMV) viral mitochondria-localized inhibitor of apoptosis (vMIA) protein, traffics to mitochondria-associated membranes (MAM), where the endoplasmic reticulum (ER) contacts the outer mitochondrial membrane (OMM). vMIA association with the MAM has not been visualized by imaging. Here, we have visualized this by using a combination of confocal and superresolution imaging. Deconvolution of confocal microscopy images shows vMIA localizes away from mitochondrial matrix at the Mitochondria-ER interface. By gated stimulated emission depletion (GSTED) imaging, we show that along this interface vMIA is distributed in clusters. Through multicolor, multifocal structured illumination microscopy (MSIM), we find vMIA clusters localize away from …

Immunologic Special Forces: Anti-Pathogen Cytotoxic T-Lymphocyte Immunotherapy Following Hematopoietic Stem Cell Transplantation, Michael Keller, Catherine M. Bollard

Pediatrics Faculty Publications

Anti-pathogen adoptive T-cell immunotherapy has been proven to be highly effective in preventing or controlling viral infections following hematopoietic stem cell transplantation. Recent advances in manufacturing protocols allow an increased number of targeted pathogens, eliminate the need for viral transduction, broaden the potential donor pool to include pathogen-naïve sources, and reduce the time requirement for production. Early studies suggest that anti-fungal immunotherapy may also have clinical benefit. Future advances include further broadening of the pathogens that can be targeted and development of T-cells with resistance to pharmacologic immunosuppression.

Culturable Aerobic And Facultative Anaerobic Intestinal Bacterial Flora Of Black Cobra (Naja Naja Karachiensis) In Southern Pakistan, Junaid Iqbal, Mehwish Sagheer, Nazneen Tabassum, Ruqaiyyah Siddiqui, Naveed Ahmed Khan

Department of Biological & Biomedical Sciences

Using morphological analysis and biochemical testing, here for the first time, we determined the culturable gut bacterial flora (aerobes and facultative anaerobes) in the venomous Black Cobra (Naja naja karachiensis) from South Asia. The findings revealed that these snakes inhabit potentially pathogenic bacteria including Serratia marcescens, Pseudomonas aeruginosa, Shewanella putrefaciens, Aeromonas hydrophila, Salmonella sp., Moraxella sp., Bacillus sp., Ochrobactrum anthropi, and Providencia rettgeri. These findings are of concern, as injury from snake bite can result in wound infections and tissue necrosis leading to sepsis/necrotizing fasciitis and/or expose consumers of snake meat/medicine in the community to infections.

Prenatal Development: Annotated Bibliography, Victoria J. Molfese, Amanda Prokasky, Kathleen Moritz Rudasill, Ibrahim H. Acar, Xiaoqing Tu, Kate Sirota, Brian Keiser

Department of Child, Youth, and Family Studies: Faculty Publications

For decades, researchers have investigated how events in the prenatal period impact women and their infants. These studies, particularly by researchers in the medical, neuroscience, and behavioral science fields, led to discoveries of important information regarding the prenatal events that were strongly associated with mortality (or death) and morbidity (or incidences of injury, pathology and abnormalities/anomalies, and neurobehavioral sequelae) in the neonatal and infancy periods. Among the many common findings from early research studies, two are particularly noteworthy. First, maternal and fetal risk conditions arising in the prenatal period do not do so in isolation. Sameroff and Chandler characterized this …

Activation Of Human Herpesvirus Replication By Apoptosis, Alka Prasad, Jil Remick, Steven L. Zeichner

Pediatrics Faculty Publications

A central feature of herpesvirus biology is the ability of herpesviruses to remain latent within host cells. Classically, exposure to inducing agents, like activating cytokines or phorbol esters that stimulate host cell signal transduction events, and epigenetic agents (e.g., butyrate) was thought to end latency. We recently showed that Kaposi's sarcoma-associated herpesvirus (KSHV, or human herpesvirus-8 [HHV-8]) has another, alternative emergency escape replication pathway that is triggered when KSHV's host cell undergoes apoptosis, characterized by the lack of a requirement for the replication and transcription activator (RTA) protein, accelerated late gene kinetics, and production of virus with decreased infectivity. Caspase-3 …

Alloreactivity-Based Medical Conditions, Stanislav Vukmanovic, Margaret G. Petroff, Anne M. Stevens, Daniel Rukavina

Pediatrics Faculty Publications

No abstract provided.

Malnutrition In Young Pakistani Children, Shela Akbar Ali Hirani

School of Nursing & Midwifery

Background: Pakistan is a developing country with the second highest infant and child mortality rate in South Asia. In this region, malnutrition underlies much of the high infant and under five child morbidity and mortality rates. Although struggle to tackle the issue of malnutrition among young Pakistani children has been going on since many decades, till yet a realistic solution for this growing problem has not been found.

Objective: This paper aims at reviewing literature to analyse the biological, maternal, socio-cultural, environmental, and politico-economical determinants of malnutrition among young children in Pakistan so that need based interventions can …

Use Of A Video Game Based Balance Training Intervention On The Balance And Function Of Children With Developmental Disabilities, Gina C. Siconolfi-Morris

Theses and Dissertations--Rehabilitation Sciences

Many children with developmental disabilities (DD) have physical impairments and limitations in their participation. Rehabilitation research often focuses on either physical impairments or participation restrictions, when both need to be investigated. The purposes of these two studies were to evaluate an at home therapist directed video game balance training intervention on balance, gait velocity (GV), hip strength and activities of children with DD. The pilot study was a single-subject non-concurrent multiple baseline design. Balance measures included: weight bearing symmetry; center of pressure area and velocity; time to boundary mean minima and standard deviation; and timed up and go. The participant’s …

Advancing Our Understanding Of The Inheritance And Transmission Of Pectus Excavatum, Lisa Horth, Michael W. Stacey, Virginia K. Proud, Kara Segna, Chelsea Rutherford, Donald Nuss, Robert E. Kelly

Bioelectrics Publications

Pectus excavatum is the most common congenital chest wall abnormality expressed in children, yet its inheritance is poorly understood. Here we present the first comprehensive assessment of the inheritance of this disorder. After evaluating 48 pedigrees and 56 clinical traits of probands and family members, we find strong evidence of autosomal recessive, genetic control for this disorder. Additionally there is likely more than one pectus disease-associated allele, as well as a relatively large number of disease allele carriers in the human population. Some clinical traits appear important and may serve as reliable indicators for predicting the likelihood of pectus excavatum …

Effects Of Environment On Children's Motor Scores, Eligibility Status, And Administration Times, Derrick Mittelstadt, Abigail Parker, Kirsten Pickett, Heather Temkin

UNLV Theses, Dissertations, Professional Papers, and Capstones

Best practices for assessing developmental skills in young children focus on naturalistic observation in everyday settings, but the effects of environment on test scores, eligibility status and administration time have not been explored. The Peabody Developmental Motor Scales-Second Edition (PDMS-2) was administered to 34 children aged 18 to 59 months in natural and pull-out settings. PDMS-2 total, gross, and fine motor quotient (TMQ, GMQ, and FMQ) scores were significantly lower in the natural environment (p’s≤.014). Based on our results, more children would qualify for services when tested in natural environments using TMQ and GMQ scores. It also took significantly longer …