Open Access. Powered by Scholars. Published by Universities.®

Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons

Open Access. Powered by Scholars. Published by Universities.®

202 Full-Text Articles 598 Authors 43597 Downloads 54 Institutions

All Articles in Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Faceted Search

202 full-text articles. Page 1 of 8.

Aberrant Brain Functional Connectivity In Newborns With Congenital Heart Disease Before Cardiac Surgery, Josepheen De Asis-Cruz, Mary T. Donofrio, Gilbert Vezina, Catherine Limperopoulos 2018 George Washington University

Aberrant Brain Functional Connectivity In Newborns With Congenital Heart Disease Before Cardiac Surgery, Josepheen De Asis-Cruz, Mary T. Donofrio, Gilbert Vezina, Catherine Limperopoulos

Pediatrics Faculty Publications

Newborns with congenital heart disease (CHD) requiring open heart surgery are at increased risk for neurodevelopmental disabilities. Recent quantitative MRI studies have reported disrupted growth, microstructure, and metabolism in fetuses and newborns with complex CHD. To date, no study has examined whether functional brain connectivity is altered in this high-risk population after birth, before surgery. Our objective was to compare whole-brain functional connectivity of resting state networks in healthy, term newborns (n = 82) and in term neonates with CHD before surgery (n = 30) using graph theory and network-based statistics. We report for the first time intact global network topology – efficient ...


Survival Advantage Of Both Human Hepatocyte Xenografts And Genome-Edited Hepatocytes For Treatment Of Alpha-1 Antitrypsin Deficiency, Florie Borel, Qiushi Tang, Gwladys Gernoux, Cynthia Greer, Ziqiong Wang, Adi Barzel, Mark A. Kay, Leonard D. Shultz, Dale L. Greiner, Terence R. Flotte, Michael A. Brehm, Christian Mueller 2017 University of Massachusetts Medical School

Survival Advantage Of Both Human Hepatocyte Xenografts And Genome-Edited Hepatocytes For Treatment Of Alpha-1 Antitrypsin Deficiency, Florie Borel, Qiushi Tang, Gwladys Gernoux, Cynthia Greer, Ziqiong Wang, Adi Barzel, Mark A. Kay, Leonard D. Shultz, Dale L. Greiner, Terence R. Flotte, Michael A. Brehm, Christian Mueller

Christian Mueller

Hepatocytes represent an important target for gene therapy and editing of single-gene disorders. In alpha-1 antitrypsin (AAT) deficiency, one missense mutation results in impaired secretion of AAT. In most patients, lung damage occurs due to a lack of AAT-mediated protection of lung elastin from neutrophil elastase. In some patients, accumulation of misfolded PiZ mutant AAT protein triggers hepatocyte injury, leading to inflammation and cirrhosis. We hypothesized that correcting the Z mutant defect in hepatocytes would confer a selective advantage for repopulation of hepatocytes within an intact liver. A human PiZ allele was crossed onto an immune-deficient (NSG) strain to create ...


Cost-Effectiveness Analysis Of Neonatal Screening Of Critical Congenital Heart Defects In China., Ruoyan Gai Tobe, Gerard R Martin, Fuhai Li, Akinori Moriichi, Bin Wu, Rintaro Mori 2017 George Washington University

Cost-Effectiveness Analysis Of Neonatal Screening Of Critical Congenital Heart Defects In China., Ruoyan Gai Tobe, Gerard R Martin, Fuhai Li, Akinori Moriichi, Bin Wu, Rintaro Mori

Pediatrics Faculty Publications

Background: Pulse oximetry screening is a highly accurate tool for the early detection of critical congenital heart disease (CCHD) in newborn infants. As the technique is simple, noninvasive, and inexpensive, it has potentially significant benefits for developing countries. The aim of this study is to provide information for future clinical and health policy decisions by assessing the costeffectiveness of CCHD screening in China.

Methods and Findings: We developed a cohort model to evaluate the cost-effectiveness of screening all Chinese newborns annually using 3 possible screening options compared to no intervention: pulse oximetry alone, clinical assessment alone, and pulse oximetry as ...


Survival Advantage Of Both Human Hepatocyte Xenografts And Genome-Edited Hepatocytes For Treatment Of Alpha-1 Antitrypsin Deficiency, Florie Borel, Qiushi Tang, Gwladys Gernoux, Cynthia Greer, Ziqiong Wang, Adi Barzel, Mark A. Kay, Leonard D. Shultz, Dale L. Greiner, Terence R. Flotte, Michael A. Brehm, Christian Mueller 2017 University of Massachusetts Medical School

Survival Advantage Of Both Human Hepatocyte Xenografts And Genome-Edited Hepatocytes For Treatment Of Alpha-1 Antitrypsin Deficiency, Florie Borel, Qiushi Tang, Gwladys Gernoux, Cynthia Greer, Ziqiong Wang, Adi Barzel, Mark A. Kay, Leonard D. Shultz, Dale L. Greiner, Terence R. Flotte, Michael A. Brehm, Christian Mueller

Pediatric Publications and Presentations

Hepatocytes represent an important target for gene therapy and editing of single-gene disorders. In alpha-1 antitrypsin (AAT) deficiency, one missense mutation results in impaired secretion of AAT. In most patients, lung damage occurs due to a lack of AAT-mediated protection of lung elastin from neutrophil elastase. In some patients, accumulation of misfolded PiZ mutant AAT protein triggers hepatocyte injury, leading to inflammation and cirrhosis. We hypothesized that correcting the Z mutant defect in hepatocytes would confer a selective advantage for repopulation of hepatocytes within an intact liver. A human PiZ allele was crossed onto an immune-deficient (NSG) strain to create ...


Lipidomic Evaluation Of Feline Neurologic Disease After Aav Gene Therapy, Heather L. Gray-Edwards, Xuntian Jiang, Ashley N. Randle, Amanda R. Taylor, Taylor L. Voss, Aime K. Johnson, Victoria J. McCurdy, Miguel Sena-Esteves, Daniel S. Ory, Douglas R. Martin 2017 Auburn University

Lipidomic Evaluation Of Feline Neurologic Disease After Aav Gene Therapy, Heather L. Gray-Edwards, Xuntian Jiang, Ashley N. Randle, Amanda R. Taylor, Taylor L. Voss, Aime K. Johnson, Victoria J. Mccurdy, Miguel Sena-Esteves, Daniel S. Ory, Douglas R. Martin

Open Access Articles

GM1 gangliosidosis is a fatal lysosomal disorder, for which there is no effective treatment. Adeno-associated virus (AAV) gene therapy in GM1 cats has resulted in a greater than 6-fold increase in lifespan, with many cats remaining alive at > 5.7 years of age, with minimal clinical signs. Glycolipids are the principal storage product in GM1 gangliosidosis whose pathogenic mechanism is not completely understood. Targeted lipidomics analysis was performed to better define disease mechanisms and identify markers of disease progression for upcoming clinical trials in humans. 36 sphingolipids and subspecies associated with ganglioside biosynthesis were tested in the cerebrospinal fluid of ...


Identification Of Stiffness-Induced Signalling Mechanisms In Cells From Patent And Fused Sutures Associated With Craniosynostosis., Sara Barreto, Arlyng Gonzalez Vazquez, Andrew R. Cameron, Fergal J. O'Brien, Dylan J Murray 2017 Royal College of Surgeons in Ireland

Identification Of Stiffness-Induced Signalling Mechanisms In Cells From Patent And Fused Sutures Associated With Craniosynostosis., Sara Barreto, Arlyng Gonzalez Vazquez, Andrew R. Cameron, Fergal J. O'Brien, Dylan J Murray

Anatomy Articles

Craniosynostosis is a bone developmental disease where premature ossification of the cranial sutures occurs leading to fused sutures. While biomechanical forces have been implicated in craniosynostosis, evidence of the effect of microenvironmental stiffness changes in the osteogenic commitment of cells from the sutures is lacking. Our aim was to identify the differential genetic expression and osteogenic capability between cells from patent and fused sutures of children with craniosynostosis and whether these differences are driven by changes in the stiffness of the microenvironment. Cells from both sutures demonstrated enhanced mineralisation with increasing substrate stiffness showing that stiffness is a stimulus capable ...


Interventions To Reduce Neonatal Mortality From Neonatal Tetanus In Low And Middle Income Countries - A Systematic Review, Adeel Ahmed Khan, Aysha Zahidie, F. Rabbani 2017 Aga Khan University

Interventions To Reduce Neonatal Mortality From Neonatal Tetanus In Low And Middle Income Countries - A Systematic Review, Adeel Ahmed Khan, Aysha Zahidie, F. Rabbani

Fauziah Rabbani

Background In 1988, WHO estimated around 787,000 newborns deaths due to neonatal tetanus. Despite few success stories majority of the Low and Middle Income Countries (LMICs) are still struggling to reduce neonatal mortality due to neonatal tetanus. We conducted a systematic review to understand the interventions that have had a substantial effect on reducing neonatal mortality rate due to neonatal tetanus in LMICs and come up with feasible recommendations for decreasing neonatal tetanus in the Pakistani setting. Methods We systemically reviewed the published literature (Pubmed and Pubget databases) to identify appropriate interventions for reducing tetanus related neonatal mortality. A ...


Characterization Of Hemangioma-Initiating Stem Cells, Natalie Montwill 2017 The University of Western Ontario

Characterization Of Hemangioma-Initiating Stem Cells, Natalie Montwill

Electronic Thesis and Dissertation Repository

Infantile hemangioma (IH) is the most common vascular tumour of infancy. IH undergoes a unique life cycle consisting of robust endothelial cell proliferation and vessel formation in the proliferating phase, followed by spontaneous regression in the involuting phase. Our laboratory has shown that IH arises from multipotential stem cells termed hemangioma stem cells (HemSCs). However, the phenotype of HemSCs has not been fully elucidated. Here, I examined HemSCs and compared these lesion-derived cells to a panel of normal counterparts. My results show that HemSCs share similar gene expression profiles with human fetal liver-derived stem cells (FLSCs) and postnatal bone marrow ...


(Ccug)N Rna Toxicity In A Drosophila Model Of Myotonic Dystrophy Type 2 (Dm2) Activates Apoptosis, Vildan Betul Yenigun, Mario Sirito, Alla Amcheslavsky, Tomek Czernuszewicz, Jordi Colonques-Bellmunt, Irma Garcia-Alcover, Marzena Wojciechowska, Clare Bolduc, Zhihong Chen, Arturo Lopez Castel, Ralf Krahe, Andreas Bergmann 2017 University of Texas

(Ccug)N Rna Toxicity In A Drosophila Model Of Myotonic Dystrophy Type 2 (Dm2) Activates Apoptosis, Vildan Betul Yenigun, Mario Sirito, Alla Amcheslavsky, Tomek Czernuszewicz, Jordi Colonques-Bellmunt, Irma Garcia-Alcover, Marzena Wojciechowska, Clare Bolduc, Zhihong Chen, Arturo Lopez Castel, Ralf Krahe, Andreas Bergmann

Open Access Articles

The myotonic dystrophies are prototypic toxic RNA gain-of-function diseases. Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are caused by different unstable, noncoding microsatellite repeat expansions - (CTG)DM1 in DMPK and (CCTG)DM2 in CNBP Although transcription of mutant repeats into (CUG)DM1 or (CCUG)DM2 appears to be necessary and sufficient to cause disease, their pathomechanisms remain incompletely understood. To study the mechanisms of (CCUG)DM2 toxicity and develop a convenient model for drug screening, we generated a transgenic DM2 model in the fruit fly Drosophila melanogaster with (CCUG)n repeats of variable length (n=16 and 106 ...


The Lysosomal Protein Cathepsin L Is A Progranulin Protease, Chris W. Lee, Jeannette N. Stankowski, Jeannie Chew, Casey N. Cook, Ying-Wai Lam, Sandra Almeida, Yari Carlomagno, Kwok-Fai Lau, Mercedes Prudencio, Fen-Biao Gao, Matthew Bogyo, Dennis W. Dickson, Leonard Petrucelli 2017 Mayo Clinic

The Lysosomal Protein Cathepsin L Is A Progranulin Protease, Chris W. Lee, Jeannette N. Stankowski, Jeannie Chew, Casey N. Cook, Ying-Wai Lam, Sandra Almeida, Yari Carlomagno, Kwok-Fai Lau, Mercedes Prudencio, Fen-Biao Gao, Matthew Bogyo, Dennis W. Dickson, Leonard Petrucelli

Open Access Articles

Haploinsufficiency of GRN, the gene encoding progranulin (PGRN), causes frontotemporal lobar degeneration (FTLD), the second most common cause of early-onset dementia. Receptor-mediated lysosomal targeting has been shown to regulate brain PGRN levels, and complete deficiency of PGRN is a direct cause of neuronal ceroid lipofuscinosis (NCL), a lysosomal storage disease. Here we show that the lysosomal cysteine protease cathepsin L (Cat L) can mediate the proteolytic cleavage of intracellular PGRN into poly-granulin and granulin fragments. Further, PGRN and Cat L co-localize in lysosomes of HEK293 cells, iPSC-derived neurons and human cortical neurons from human postmortem tissue. These data identify Cat ...


Evolution Of The Alpha-1 Antitrypsin Muscle Gene Therapy: Translation From Clinical Trial To Benchtop And Back Again, Alisha M. Gruntman, Gwladys Gernoux, Gensheng Wang, Janet Benson, Jeff Chulay, Dave Knop, Christian Mueller, Terence R. Flotte 2017 University of Massachusetts Medical School

Evolution Of The Alpha-1 Antitrypsin Muscle Gene Therapy: Translation From Clinical Trial To Benchtop And Back Again, Alisha M. Gruntman, Gwladys Gernoux, Gensheng Wang, Janet Benson, Jeff Chulay, Dave Knop, Christian Mueller, Terence R. Flotte

Christian Mueller

Alpha-one antitrypsin (AAT) deficiency is a genetic disease affecting the lungs due to inadequate anti-protease activity in the pulmonary interstitium. On-going human trials use intra-muscular delivery of adeno-associated virus (rAAV1), allowing expressing myofibers to secrete normal (M)AAT protein. In the Phase IIa trial, patients in the highest dose cohort (6x1012vg/kg) were given 100 intra-muscular (IM) injections of undiluted vector, with serum AAT levels still substantially below target levels. Previous work has shown that delivering rAAV vector to the musculature via limb perfusion leads to widespread gene expression in myofibers. We hypothesize that widespread delivery would result in an ...


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 ...


Abnormal Dendritic Maturation Of Developing Cortical Neurons Exposed To Corticotropin Releasing Hormone (Crh): Insights Into Effects Of Prenatal Adversity?, Megan M. Curran, Curt A. Sandman, Elyssia Poggi Davis, Laura M. Glynn, Tallie Z. Baram 2017 University of California, Irvine

Abnormal Dendritic Maturation Of Developing Cortical Neurons Exposed To Corticotropin Releasing Hormone (Crh): Insights Into Effects Of Prenatal Adversity?, Megan M. Curran, Curt A. Sandman, Elyssia Poggi Davis, Laura M. Glynn, Tallie Z. Baram

Psychology Faculty Articles and Research

Corticotropin releasing hormone (CRH) produced by the hypothalamus initiates the hypothalamic- pituitary-adrenal (HPA) axis, which regulates the body's stress response. CRH levels typically are undetectable in human plasma, but during pregnancy the primate placenta synthesizes and releases large amounts of CRH into both maternal and fetal circulations. Notably, placental CRH synthesis increases in response to maternal stress signals. There is evidence that human fetal exposure to high concentrations of placental CRH is associated with behavioral consequences during infancy and into childhood, however the direct effects on of the peptide on the human brain are unknown. In this study, we ...


Validating Candidate Congenital Heart Disease Genes In Drosophila., Jun-Yi Zhu, Yulong Fu, Adam Richman, Zhe Han 2017 George Washington University

Validating Candidate Congenital Heart Disease Genes In Drosophila., Jun-Yi Zhu, Yulong Fu, Adam Richman, Zhe Han

Pediatrics Faculty Publications

Genomic sequencing efforts can implicate large numbers of genes and de novo mutations as potential disease risk factors. A high throughput in vivo model system to validate candidate gene association with pathology is therefore useful. We present such a system employing Drosophila to validate candidate congenital heart disease (CHD) genes. The protocols exploit comprehensive libraries of UAS-GeneX-RNAi fly strains that when crossed into a 4×Hand-Gal4 genetic background afford highly efficient cardiac-specific knockdown of endogenous fly orthologs of human genes. A panel of quantitative assays evaluates phenotypic severity across multiple cardiac parameters. These include developmental lethality, larva and adult heart ...


5 Year Expression And Neutrophil Defect Repair After Gene Therapy In Alpha-1 Antitrypsin Deficiency, Christian Mueller, Gwladys Gernoux, Alisha M. Gruntman, Florie Borel, Emer P. Reeves, Roberto Calcedo, Farshid N. Rouhani, Anthony Yachnis, Margaret Humphries, Martha Campbell-Thompson, Louis M. Messina, Jeffrey D. Chulay, Bruce Trapnell, James M. Wilson, Noel G. McElvaney, Terence R. Flotte 2017 University of Massachusetts Medical School

5 Year Expression And Neutrophil Defect Repair After Gene Therapy In Alpha-1 Antitrypsin Deficiency, Christian Mueller, Gwladys Gernoux, Alisha M. Gruntman, Florie Borel, Emer P. Reeves, Roberto Calcedo, Farshid N. Rouhani, Anthony Yachnis, Margaret Humphries, Martha Campbell-Thompson, Louis M. Messina, Jeffrey D. Chulay, Bruce Trapnell, James M. Wilson, Noel G. Mcelvaney, Terence R. Flotte

Christian Mueller

Alpha-1 antitrypsin deficiency is a monogenic disorder resulting in emphysema due principally to the unopposed effects of neutrophil elastase. We previously reported achieving plasma wild-type alpha-1 antitrypsin concentrations at 2.5%-3.8% of the purported therapeutic level at 1 year after a single intramuscular administration of recombinant adeno-associated virus serotype 1 alpha-1 antitrypsin vector in alpha-1 antitrypsin deficient patients. We analyzed blood and muscle for alpha-1 antitrypsin expression and immune cell response. We also assayed previously reported markers of neutrophil function known to be altered in alpha-1 antitrypsin deficient patients. Here, we report sustained expression at 2.0%-2 ...


5 Year Expression And Neutrophil Defect Repair After Gene Therapy In Alpha-1 Antitrypsin Deficiency, Christian Mueller, Gwladys Gernoux, Alisha M. Gruntman, Florie Borel, Emer P. Reeves, Roberto Calcedo, Farshid N. Rouhani, Anthony Yachnis, Margaret Humphries, Martha Campbell-Thompson, Louis M. Messina, Jeffrey D. Chulay, Bruce Trapnell, James M. Wilson, Noel G. McElvaney, Terence R. Flotte 2017 University of Massachusetts Medical School

5 Year Expression And Neutrophil Defect Repair After Gene Therapy In Alpha-1 Antitrypsin Deficiency, Christian Mueller, Gwladys Gernoux, Alisha M. Gruntman, Florie Borel, Emer P. Reeves, Roberto Calcedo, Farshid N. Rouhani, Anthony Yachnis, Margaret Humphries, Martha Campbell-Thompson, Louis M. Messina, Jeffrey D. Chulay, Bruce Trapnell, James M. Wilson, Noel G. Mcelvaney, Terence R. Flotte

University of Massachusetts Medical School Faculty Publications

Alpha-1 antitrypsin deficiency is a monogenic disorder resulting in emphysema due principally to the unopposed effects of neutrophil elastase. We previously reported achieving plasma wild-type alpha-1 antitrypsin concentrations at 2.5%-3.8% of the purported therapeutic level at 1 year after a single intramuscular administration of recombinant adeno-associated virus serotype 1 alpha-1 antitrypsin vector in alpha-1 antitrypsin deficient patients. We analyzed blood and muscle for alpha-1 antitrypsin expression and immune cell response. We also assayed previously reported markers of neutrophil function known to be altered in alpha-1 antitrypsin deficient patients. Here, we report sustained expression at 2.0%-2 ...


An Innovative Nurse-Managed Transition Clinic For Adolescents And Young Adults With Spina Bifida: A Pilot Study, Mohammad Alkawaldeh, Rebecca Sherlock, Estranda Carlos, Erika Alkhawaldeh 2017 University of Massachusetts Amherst

An Innovative Nurse-Managed Transition Clinic For Adolescents And Young Adults With Spina Bifida: A Pilot Study, Mohammad Alkawaldeh, Rebecca Sherlock, Estranda Carlos, Erika Alkhawaldeh

UMass Center for Clinical and Translational Science Research Retreat

Background. Transition from pediatric to adult care for patients with complex illness is challenging. The Spina Bifida Center at Boston Children’s Hospital (SBC) has approximately 650 patients, of which 25% (N=162) are ≥ 18 years of age. The SBC has not had a structured paradigm for successful transition. A first transition clinic with our pediatric and adult care urology partners was initiated in August 2016.

Methods. A 20 question (TRAQ: Transition Readiness Assessment Questionnaire) paper survey was distributed to patients in the first Spina Bifida Transition Clinic at Boston Children's Hospital. TRAQ is a validated, patient-centered questionnaire which ...


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 ...


Evolution Of The Alpha-1 Antitrypsin Muscle Gene Therapy: Translation From Clinical Trial To Benchtop And Back Again, Alisha M. Gruntman, Gwladys Gernoux, Gensheng Wang, Janet Benson, Jeff Chulay, Dave Knop, Christian Mueller, Terence R. Flotte 2017 University of Massachusetts Medical School

Evolution Of The Alpha-1 Antitrypsin Muscle Gene Therapy: Translation From Clinical Trial To Benchtop And Back Again, Alisha M. Gruntman, Gwladys Gernoux, Gensheng Wang, Janet Benson, Jeff Chulay, Dave Knop, Christian Mueller, Terence R. Flotte

UMass Center for Clinical and Translational Science Research Retreat

Alpha-one antitrypsin (AAT) deficiency is a genetic disease affecting the lungs due to inadequate anti-protease activity in the pulmonary interstitium. On-going human trials use intra-muscular delivery of adeno-associated virus (rAAV1), allowing expressing myofibers to secrete normal (M)AAT protein. In the Phase IIa trial, patients in the highest dose cohort (6x1012vg/kg) were given 100 intra-muscular (IM) injections of undiluted vector, with serum AAT levels still substantially below target levels. Previous work has shown that delivering rAAV vector to the musculature via limb perfusion leads to widespread gene expression in myofibers. We hypothesize that widespread delivery would result ...


Video Capsule Endoscopy In Patients With Muir-Torre Syndrome, Erik Holzwanger, Yasir Al-Azzawi, David R. Cave 2017 University of Massachusetts Medical School

Video Capsule Endoscopy In Patients With Muir-Torre Syndrome, Erik Holzwanger, Yasir Al-Azzawi, David R. Cave

UMass Center for Clinical and Translational Science Research Retreat

Introduction: Muir-Torre Syndrome (MTS) is a rare, primarily autosomal dominant disorder that is distinguished by having sebaceous skin malignancies in addition to visceral malignancies. The most common form of MTS is a variant of HNPCC. Our aim is to demonstrate the utilization of VCE in patients with MTS as the first line screening method.

Methods: Single center, retrospective chart review study of outpatients with MTS who underwent a video capsule endoscopy study between January 2006 and January 2016.

Results: Four patients, all women and mean age of 57 years old, with MTS underwent a video capsule endoscopy at our institution ...


Digital Commons powered by bepress