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Confirmation That Mat1a P.Ala259val Mutation Causes Autosomal Dominant Hypermethioninemia, M J. Muriello, S Viall, T Bottiglieri, K Cusmano-Ozog, C R. Ferreira 2017 George Washington University

Confirmation That Mat1a P.Ala259val Mutation Causes Autosomal Dominant Hypermethioninemia, M J. Muriello, S Viall, T Bottiglieri, K Cusmano-Ozog, C R. Ferreira

Pediatrics Faculty Publications

Methionine adenosyltransferase (MAT) I/III deficiency is an inborn error of metabolism caused by mutations in MAT1A, encoding the catalytic subunit of MAT responsible for the synthesis of S-adenosylmethionine, and is characterized by persistent hypermethioninemia. While historically considered a recessive disorder, a milder autosomal dominant form of MAT I/III deficiency occurs, though only the most common mutation p.Arg264His has ample evidence to prove dominant inheritance. We report a case of hypermethioninemia caused by the p.Ala259Val substitution and provide evidence of autosomal dominant inheritance by showing both maternal inheritance of the mutation and concomitant hypermethioninemia. The p.Ala259Val ...


The Home Matters: Adolescents Drink More Ssbs When Available At Home, Christina F. Haughton, Molly E. Waring, Lori Pbert, Milagros C. Rosal, Stephenie C. Lemon 2017 University of Massachusetts Medical School

The Home Matters: Adolescents Drink More Ssbs When Available At Home, Christina F. Haughton, Molly E. Waring, Lori Pbert, Milagros C. Rosal, Stephenie C. Lemon

Molly E. Waring

Objective: Sugar sweetened beverage (SSB) consumption has increased by 300% in the past three decades and the largest source of both added sugar and calories in the diets of US adolescents. It has been argued that the increased intake of SSBs has contributed to the rising prevalence of obesity. The availability and accessibility of foods/drinks in multiple levels of an adolescent’s environment can influence one’s choices and impact consumption. The aim of this study is to examine the association between adolescent self-report of the availability of SSBs in their home and SSB consumption and whether neighborhood and ...


The Home Matters: Adolescents Drink More Ssbs When Available At Home, Christina F. Haughton, Molly E. Waring, Lori Pbert, Milagros C. Rosal, Stephenie C. Lemon 2017 University of Massachusetts Medical School

The Home Matters: Adolescents Drink More Ssbs When Available At Home, Christina F. Haughton, Molly E. Waring, Lori Pbert, Milagros C. Rosal, Stephenie C. Lemon

Stephenie C. Lemon

Objective: Sugar sweetened beverage (SSB) consumption has increased by 300% in the past three decades and the largest source of both added sugar and calories in the diets of US adolescents. It has been argued that the increased intake of SSBs has contributed to the rising prevalence of obesity. The availability and accessibility of foods/drinks in multiple levels of an adolescent’s environment can influence one’s choices and impact consumption. The aim of this study is to examine the association between adolescent self-report of the availability of SSBs in their home and SSB consumption and whether neighborhood and ...


The Home Matters: Adolescents Drink More Ssbs When Available At Home, Christina F. Haughton, Molly E. Waring, Lori Pbert, Milagros C. Rosal, Stephenie C. Lemon 2017 University of Massachusetts Medical School

The Home Matters: Adolescents Drink More Ssbs When Available At Home, Christina F. Haughton, Molly E. Waring, Lori Pbert, Milagros C. Rosal, Stephenie C. Lemon

Lori Pbert

Objective: Sugar sweetened beverage (SSB) consumption has increased by 300% in the past three decades and the largest source of both added sugar and calories in the diets of US adolescents. It has been argued that the increased intake of SSBs has contributed to the rising prevalence of obesity. The availability and accessibility of foods/drinks in multiple levels of an adolescent’s environment can influence one’s choices and impact consumption. The aim of this study is to examine the association between adolescent self-report of the availability of SSBs in their home and SSB consumption and whether neighborhood and ...


Residential Segregation, Neighborhood Social And Physical Context In Obesity Disparities In Hispanic Preschoolers: A Conceptual Model, Catherina Chang Martinez PhD(c), Nasar U. Ahmed PhD, Ruby A. Natale PhD, PsyD 2017 Robert Stempel College of Public Health and Social Work, Florida International University

Residential Segregation, Neighborhood Social And Physical Context In Obesity Disparities In Hispanic Preschoolers: A Conceptual Model, Catherina Chang Martinez Phd(C), Nasar U. Ahmed Phd, Ruby A. Natale Phd, Psyd

Journal of Health Disparities Research and Practice

During the last decade, there has been a significant inclusion in obesity prevention studies from individual characteristics to household factors then neighborhood factors. The study of place in the context of early childhood obesity studies has been limited to the food and physical built environment. With the persistent disparities in the prevalence of childhood obesity, and Hispanic minorities being increasingly affected, there is a need to reexamine existing models and develop new model conceptual frameworks to examine the role of place and residential segregation in the context of race, ethnicity, social position, and socioeconomic disparities. In the context of place ...


Creative Movement Dance Class For Adolescents With Autism Spectrum Disorder, Zoe N. Brennan, Abigail L. Koning, April L. Miller 2017 Grand Valley State University

Creative Movement Dance Class For Adolescents With Autism Spectrum Disorder, Zoe N. Brennan, Abigail L. Koning, April L. Miller

Pediatrics

Objective: The objective of this phenomenological study was to identify how an occupational therapy developed Creative Movement Dance Class (CMDC) addresses social interaction skills in adolescents with Autism Spectrum Disorder (ASD).

Method: Interviews were conducted with a Certified Occupational Therapist Assistant (COTA), Occupational Therapist (OT), ballet instructor, student intern, teacher, and an aide that were directly involved with the CMDC.

Results: Three themes were identified. The first theme, structure of the class, consisted of eight sub-themes including opportunity to practice, fulfilling sensory needs, the Just Right Challenge, classroom support, classroom expectations, interprofessional collaboration, themes, and format of the class. The ...


Alternative Interventions For Children Coping With Chronic Conditions: A Critical Review Of The Literature, Nina M. Pelsi, Kim S. Amer 2017 DePaul University

Alternative Interventions For Children Coping With Chronic Conditions: A Critical Review Of The Literature, Nina M. Pelsi, Kim S. Amer

DePaul Discoveries

Reduction of stressors and anxiety levels in adolescents with chronic illnesses is a critical concept in pediatric health care in America today. The many stressors associated with chronic illness include displaying physical and mental differences, social stigma, financial difficulty, and family stress. These stressors may affect the adolescent’s ability to learn and cope in everyday life. The current research was a critical review of the literature examining studies done with adolescents coping with chronic diseases and illnesses. The aim was to analyze the most efficacious non-pharmacological methods for reducing stressors in adolescents with chronic illness. A critical review of ...


Optimizing Linkage To Care And Initiation And Retention On Treatment Of Adolescents With Newly Diagnosed Hiv Infection., Eva Caroline Ruria, Rose Masaba, Judith Kose, Godfrey Woelk, Eliud Mwangi, Lucy Matu, Hillary Ng'eno, Beatrice Bikeri, Natella Rakhmanina 2017 George Washington University

Optimizing Linkage To Care And Initiation And Retention On Treatment Of Adolescents With Newly Diagnosed Hiv Infection., Eva Caroline Ruria, Rose Masaba, Judith Kose, Godfrey Woelk, Eliud Mwangi, Lucy Matu, Hillary Ng'eno, Beatrice Bikeri, Natella Rakhmanina

Pediatrics Faculty Publications

Objective: Unsuccessful linkage to care and treatment increases adolescent HIV-related morbidity and mortality. This study evaluated the effect of a novel adolescent and youth Red Carpet Program (RCP) on the timing and outcomes of linkage to care.

Design: A prepost implementation evaluation of the pilot RCP program.

Settings: Healthcare facilities (HCFs) and schools in Homa Bay County, Kenya.

Study participants: HIV-infected adolescents (15–19 years) and youth (20–21 years).

Interventions: RCP provided fast-track peer-navigated services, peer counseling, and psychosocial support at HCFs and schools in six Homa Bay subcounties in 2016. RCP training and sensitization was implemented in 50 ...


The Effect Of Occupational Therapy Play-Based Interventions On Cooperative Behavior In Elementary School Aged Children With Autism Spectrum Disorder, Shaunna Kelder, Jennifer E. Langill, Carol A. Reiss, Nicole F. Socia 2017 Grand Valley State University

The Effect Of Occupational Therapy Play-Based Interventions On Cooperative Behavior In Elementary School Aged Children With Autism Spectrum Disorder, Shaunna Kelder, Jennifer E. Langill, Carol A. Reiss, Nicole F. Socia

Pediatrics

The purpose of this study was to explore the perceptions of occupational therapy practitioners regarding the effect play-based interventions have on cooperative behaviors in elementary school aged children with autism spectrum disorder (ASD). While occupational therapy practitioners use a variety of interventions involving play to enhance skills related to social, self-regulation and communication, the concept of how play affects cooperative behavior, specifically in children with ASD, has not been readily identified. This qualitative research project utilized an anonymous survey to collect the perceptions of occupational therapists (OT) and certified occupational therapy assistants (COTA). The intent of the survey was to ...


Development Of Bone Targeting Drugs., Molly Stapleton, Kazuki Sawamoto, Carlos J. Alméciga-Díaz, William G. Mackenzie, Robert W. Mason, Tadao Orii, Shunji Tomatsu 2017 University of Delaware; Nemours/Alfred I. duPont Hospital for Children

Development Of Bone Targeting Drugs., Molly Stapleton, Kazuki Sawamoto, Carlos J. Alméciga-Díaz, William G. Mackenzie, Robert W. Mason, Tadao Orii, Shunji Tomatsu

Department of Pediatrics Faculty Papers

The skeletal system, comprising bones, ligaments, cartilage and their connective tissues, is critical for the structure and support of the body. Diseases that affect the skeletal system can be difficult to treat, mainly because of the avascular cartilage region. Targeting drugs to the site of action can not only increase efficacy but also reduce toxicity. Bone-targeting drugs are designed with either of two general targeting moieties, aimed at the entire skeletal system or a specific cell type. Most bone-targeting drugs utilize an affinity to hydroxyapatite, a major component of the bone matrix that includes a high concentration of positively-charged Ca ...


Emerging Antimicrobial Resistance In Early And Late-Onset Neonatal Sepsis, Lamiaa Mohnsen, Nermin Ramy, Dalia Saied, Dina Akmal, Niveen Salama, Mona Abdel Haleim, Hany Aly 2017 George Washington University

Emerging Antimicrobial Resistance In Early And Late-Onset Neonatal Sepsis, Lamiaa Mohnsen, Nermin Ramy, Dalia Saied, Dina Akmal, Niveen Salama, Mona Abdel Haleim, Hany Aly

Pediatrics Faculty Publications

Background

Compared to developed countries, the use of antimicrobials in Egypt is less regulated and is available over the counter without the need for prescriptions. The impact of such policy on antimicrobial resistance has not been studied. This study aimed to determine the prevalence of early and late onset sepsis, and the frequency of antimicrobial resistance in a major referral neonatal intensive care unit (NICU).

Methods

The study included all neonates admitted to the NICU over a 12-month period. Prospectively collected clinical and laboratory data were retrieved, including blood cultures and endotracheal aspirate cultures if performed.

Results

A total of ...


The Role Of Skeletal Survey In Identifying Non-Accidental Trauma In Pediatric Trauma Patients, Jonathan Green 2017 University of Massachusetts Medical School

The Role Of Skeletal Survey In Identifying Non-Accidental Trauma In Pediatric Trauma Patients, Jonathan Green

GSBS Dissertations and Theses

Background: Non-accidental Trauma (NAT) is a major cause of morbidity and mortality in children. Children less than 2 years old are at greater risk of NAT than older children. A skeletal survey is a series of X-rays of all the bones in the body, or at least the axial skeleton and the large cortical bones used to identify NAT in children. In this observational study, we examined the association between a child’s age, frequency of positive skeletal surveys, and the types of injuries discovered in pediatric patients undergoing a trauma work-up.

Methods: The study sample consisted of all pediatric ...


Determining The Longitudinal Validity And Meaningful Differences In Hrql Of The Pedsql™ Sickle Cell Disease Module., Julie A Panepinto, J Paul Scott, Oluwakemi Badaki-Makun, Deepika S Darbari, Corrie E Chumpitazi, Gladstone E Airewele, +several additional authors 2017 George Washington University

Determining The Longitudinal Validity And Meaningful Differences In Hrql Of The Pedsql™ Sickle Cell Disease Module., Julie A Panepinto, J Paul Scott, Oluwakemi Badaki-Makun, Deepika S Darbari, Corrie E Chumpitazi, Gladstone E Airewele, +Several Additional Authors

Pediatrics Faculty Publications

BACKGROUND: Detecting change in health status over time and ascertaining meaningful changes are critical elements when using health-related quality of life (HRQL) instruments to measure patient-centered outcomes. The PedsQL™ Sickle Cell Disease module, a disease specific HRQL instrument, has previously been shown to be valid and reliable. Our objectives were to determine the longitudinal validity of the PedsQL™ Sickle Cell Disease module and the change in HRQL that is meaningful to patients.

METHODS: An ancillary study was conducted utilizing a multi-center prospective trial design. Children ages 4-21 years with sickle cell disease admitted to the hospital for an acute painful ...


Complete Congenital Heart Block: A Case Of Multilevel Block., Ian W Hovis, David N Schidlow, Jeffrey P Moak 2017 George Washington University

Complete Congenital Heart Block: A Case Of Multilevel Block., Ian W Hovis, David N Schidlow, Jeffrey P Moak

Pediatrics Faculty Publications

No abstract provided.


Aplastic Anemia: Clinicohaematological Features, Treatment And Outcome Analysis, Rabia Wali, Zehra Fidoo, Salman Adil, Muhammad Ahmed Naqvi 2017 Aga Khan University

Aplastic Anemia: Clinicohaematological Features, Treatment And Outcome Analysis, Rabia Wali, Zehra Fidoo, Salman Adil, Muhammad Ahmed Naqvi

Salman Naseem Adil

Objective: To determine the clinicohaematological features, treatment and outcome of children diagnosed with aplastic anemia at a single institution. Study Design: Observational study. Place and Duration of Study: The Aga Khan University Hospital, Karachi, from January 1999 till December 2008. Methodology: Medical records of children aged less than 15 years of age diagnosed with aplastic anemia were reviewed. Clinicohaematological features, treatment and its response to therapy and outcome were recorded. Results were described in percentages. Results: Ninety patients were diagnosed to have aplastic anemia (AA); 65 were male during the study period. Age ranged from 1 to 15 years. Fever ...


A National Perspective On Childhood Obesity Medical Education: Do Medical Students In Canada Perceive That They Are Prepared To Treat Children With Obesity?, Dr. Dalia Hasan 2017 The University of Western Ontario

A National Perspective On Childhood Obesity Medical Education: Do Medical Students In Canada Perceive That They Are Prepared To Treat Children With Obesity?, Dr. Dalia Hasan

Electronic Thesis and Dissertation Repository

The purposes of this survey-based, mixed-methods study were to investigate medical students’ perceptions of: (1) the overall level of medical school training acquired in relation to childhood obesity treatment; (2) the medical school training acquired in relation to specific competencies associated with the treatment of children with obesity and their caregiver(s); and (3) additional training needed. Results showed that of the 507 students who provided complete data, approximately 60% (n = 303) disagreed or strongly disagreed that their medical training related to childhood obesity was adequate. With regard to specific competencies and additional training needed, quantitative and qualitative data revealed ...


A Longitudinal Study Of Peripubertal Serum Organochlorine Concentrations And Semen Parameters In Young Men: The Russian Children's Study, Lidia Minguez-Alarcon, Oleg Sergeyev, Jane S. Burns, Paige L. Williams, Mary M. Lee, Susan A. Korrick, Luidmila Smigulina, Boris Revich, Russ Hauser 2017 Harvard T.H. Chan School of Public Health

A Longitudinal Study Of Peripubertal Serum Organochlorine Concentrations And Semen Parameters In Young Men: The Russian Children's Study, Lidia Minguez-Alarcon, Oleg Sergeyev, Jane S. Burns, Paige L. Williams, Mary M. Lee, Susan A. Korrick, Luidmila Smigulina, Boris Revich, Russ Hauser

Mary M. Lee

BACKGROUND: Exposures to endocrine disrupting chemicals during critical phases of testicular development may be related to poorer semen parameters. However, few studies have assessed the association between childhood organochlorine (OC) exposure and adult semen parameters.

OBJECTIVE: We examined whether peripubertal serum OC concentrations are associated with semen parameters among young Russian men.

METHODS: From 2003 to 2005, 516 boys were enrolled at age 8-9 years and followed for up to ten years. Serum OCs were measured in the enrollment samples using high-resolution mass spectrometry. At age 18-19 years, 133 young men provided one or two semen samples (256 samples) collected ...


Characterization Of Severe Malaria In Liberian Children 5 Years Old And Younger, Patricia A. McQuilkin 2017 University of Massachusetts Medical School

Characterization Of Severe Malaria In Liberian Children 5 Years Old And Younger, Patricia A. Mcquilkin

GSBS Dissertations and Theses

Malaria continues to be a challenging problem in the developing world, and the burden of this life threatening disease continues to be borne by young children living in Sub Saharan Africa. One of the biggest challenges to the prevention and control of this problem lies in accurately diagnosing malaria, and distinguishing it from the many other febrile illnesses which present in children in this age group.

Liberia is a West African country with a high burden of malaria. Very little is known about the presentation of severe malaria in children aged 5 years old and younger in Liberia. We undertook ...


The Bch-Sbpr: A Multi-Disciplinary Registry Collecting Longitudinal Data On Patients With Spina Bifida, Mohammad Alkawaldeh, Rebecca Sherlock, Estrada Carlos, Erika Alkhawaldeh 2017 University of Massachusetts Amherst

The Bch-Sbpr: A Multi-Disciplinary Registry Collecting Longitudinal Data On Patients With Spina Bifida, Mohammad Alkawaldeh, Rebecca Sherlock, Estrada Carlos, Erika Alkhawaldeh

UMass Center for Clinical and Translational Science Research Retreat

Introduction. In the U.S. alone, approximately 1500 infants are born with SB each year. An estimated 166,000 individuals with SB live in the United States.

Background. The BCH-SBPR was established in August 2015 to help increase knowledge about new procedures, surgeries and treatment options, growing up with Spina Bifida, and to guide healthcare practices by prospectively studying a cohort of children born with this condition.

Objective. The objective of this project is to collect comprehensive longitudinal clinical data (demographics, treatments, and outcomes) from a multi- disciplinary clinic on patients with SB.

Design: Prospective longitudinal design. Data collection will ...


The Home Matters: Adolescents Drink More Ssbs When Available At Home, Christina F. Haughton, Molly E. Waring, Lori Pbert, Milagros C. Rosal, Stephenie C. Lemon 2017 University of Massachusetts Medical School

The Home Matters: Adolescents Drink More Ssbs When Available At Home, Christina F. Haughton, Molly E. Waring, Lori Pbert, Milagros C. Rosal, Stephenie C. Lemon

UMass Center for Clinical and Translational Science Research Retreat

Objective: Sugar sweetened beverage (SSB) consumption has increased by 300% in the past three decades and the largest source of both added sugar and calories in the diets of US adolescents. It has been argued that the increased intake of SSBs has contributed to the rising prevalence of obesity. The availability and accessibility of foods/drinks in multiple levels of an adolescent’s environment can influence one’s choices and impact consumption. The aim of this study is to examine the association between adolescent self-report of the availability of SSBs in their home and SSB consumption and whether neighborhood and ...


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