Diseases Commons^™

Hla-Dqa1 And Plcg2 Are Candidate Risk Loci For Childhood-Onset Steroid-Sensitive Nephrotic Syndrome., Rasheed A. Gbadegesin, Adebowale Adeyemo, Nicholas J A Webb, Larry A A. Greenbaum, Asiri Abeyagunawardena, Shenal Thalgahagoda, Arundhati Kale, Debbie Gipson, Tarak Srivastava, Jen-Jar Lin, Deepa Chand, Tracy E. Hunley, Patrick D. Brophy, Arvind Bagga, Aditi Sinha, Michelle N. Rheault, Joanna Ghali, Kathy Nicholls, Elizabeth Abraham, Halima S. Janjua, Abiodun Omoloja, Gina-Marie Barletta, Yi Cai, David D. Milford, Catherine O'Brien, Atif Awan, Vladimir Belostotsky, William E. Smoyer, Alison Homstad, Gentzon Hall, Guanghong Wu, Shashi Nagaraj, Delbert Wigfall, John Foreman, Michelle P. Winn, Mid-West Pediatric Nephrology Consortium

Manuscripts, Articles, Book Chapters and Other Papers

Steroid-sensitive nephrotic syndrome (SSNS) accounts for >80% of cases of nephrotic syndrome in childhood. However, the etiology and pathogenesis of SSNS remain obscure. Hypothesizing that coding variation may underlie SSNS risk, we conducted an exome array association study of SSNS. We enrolled a discovery set of 363 persons (214 South Asian children with SSNS and 149 controls) and genotyped them using the Illumina HumanExome Beadchip. Four common single nucleotide polymorphisms (SNPs) in HLA-DQA1 and HLA-DQB1 (rs1129740, rs9273349, rs1071630, and rs1140343) were significantly associated with SSNS at or near the Bonferroni-adjusted P value for the number of single variants that were …

The Reproducibility And Absolute Values Of Echocardiographic Measurements Of Left Ventricular Size And Function In Children Are Algorithm Dependent., Renee Margossian, Shan Chen, Lynn A. Sleeper, Lloyd Y. Tani, Girish S. Shirali, Fraser Golding, Elif Seda Selamet Tierney, Karen Altmann, Michael J. Campbell, Anita Szwast, Angela Sharkey, Elizabeth Radojewski, Steven D. Colan, Pediatric Heart Network Investigators

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Several quantification algorithms for measuring left ventricular (LV) size and function are used in clinical and research settings. The aims of this study were to investigate the effects of measurement algorithm and beat averaging on the reproducibility of measurements of the left ventricle and to assess the magnitude of agreement among the algorithms in children with dilated cardiomyopathy.

METHODS: Echocardiograms were obtained in 169 children from eight clinical centers. Inter- and intrareader reproducibility was assessed on measurements of LV volumes using the biplane Simpson, modified Simpson, and 5/6 × area × length (5/6AL) algorithms. Percentage error was calculated as …

Oseltamivir-Warfarin Interaction In Hypoplastic Left Heart Syndrome: Case Report And Review., Jonathan B. Wagner, Susan M. Abdel-Rahman

Manuscripts, Articles, Book Chapters and Other Papers

An 8-year-old boy with hypoplastic left heart syndrome with a previous history of thrombosis within the inferior vena cava receiving stable warfarin dosing for anticoagulation was diagnosed with influenza B. He was subsequently placed on oseltamivir therapy according to the Centers for Disease Control and Prevention clinical practice guidelines. During the hospitalization, his international normalized ratio steadily increased to supratherapeutic levels and returned to baseline after discontinuation of oseltamivir therapy. This case represents a drug-drug interaction that has not been previously reported in children or adolescents. An extensive review of the pharmacokinetic and pharmacodynamic literature did not uncover a definitive …

Use Of N-Acetylcysteine In Children With Fulminant Hepatic Failure Caused By Acute Viral Hepatitis, Ali Faisal Saleem, Qalab Abbas, Anwarul Haque

Department of Paediatrics and Child Health

Objective: To determine the efficacy of N-acetylcysteine (NAC) in children aged > 1 month to 16 years admitted with Fulminant Hepatic Failure (FHF) secondary to Acute Viral Hepatitis (AVH) in a tertiary care center of a developing country.

Study Design: Analytical study.

Place and Duration of Study: Department of Paediatrics, The Aga Khan University Hospital, Karachi, Pakistan, from January 2007 to December 2011.

Methodology: Medical records of children (> 1 month - 16 years) with FHF admitted with AVH of known etiology who received NAC were reviewed retrospectively. Liver function tests (mean ± SD) at baseline, 24 hours after NAC and …

2015 Spctpd/Acc/Aap/Aha Training Guidelines For Pediatric Cardiology Fellowship Programs (Revision Of The 2005 Training Guidelines For Pediatric Cardiology Fellowship Programs)., R D. Ross, M Brook, J A. Feinstein, P Koenig, P Lang, R Spicer, J A. Vincent, A B. Lewis, G R. Martin, P J. Bartz, P S. Fischbach, D R. Fulton, G P. Matherne, B Reinking, S Srivastava, B Printz, T Geva, Girish S. Shirali, P Weinberg, P C. Wong, L B. Armsby, R N. Vincent, S R. Foerster, R J. Holzer, J W. Moore, A C. Marshall, L Latson, A M. Dubin, E P. Walsh, W Franklin, R J. Kanter, J P. Saul, M J. Shah, G F. Van Hare, T F. Feltes, S J. Roth, M C. Almodovar, D B. Andropoulos, D J. Bohn, J M. Costello, R J. Gajarski, A R. Mott, K Stout, A M. Valente, S Cook, M Gurvitz, A Saidi, S A. Webber, D T. Hsu, D D. Ivy, T J. Kulik, E Pahl, D N. Rosenthal, R Morrow, W T. Mahle, A M. Murphy, J S. Li, Y M. Law, J W. Newburger, S R. Daniels, D Bernstein, B S. Marino

Manuscripts, Articles, Book Chapters and Other Papers

No abstract provided.

Knowledge Base Of Adolescents With Congenital Heart Disease, Mark Gelatt, Julie Martin, Jennifer A. Marshall, Jennifer Panuco, Jenea Schmidt, Pamela Finn

Posters

Introduction:

Most congenital heart disease [CHD] is diagnosed and treated in early childhood with parents responsible for decision-making. The adolescent assumes this role in preparation for transition to an adult congenital heart program. We studied the knowledge base of our adolescent CHD patients and their parents.

Methods:

Established CHD patients, >11 y.o. and their parents, were independently surveyed in the outpatient clinic. Participation was voluntary. Cardiomyopathy, electrophysiology and transplant patients were excluded. Scores were assessed as full, partial or incomplete.

Results:

Most (98% parents; 83% adolescents) reported that their cardiologist had provided education. Adolescents provided a full (49%) and partial …

Impact Of Poor Air Quality On Chronic Respiratory Problems Among The Elderly, James D. Blando, My Ngoc Nguyen, Manasi Sheth-Chandra, Muge Akpinar-Elci

Community & Environmental Health Faculty Publications

[First Paragraph] There is a considerable body of evidence that suggests poor ambient air quality contributes to increased mortality and morbidity. ^1,2,3,4,5 The impact of ambient air quality on different segments of the general population, including children and among the elderly has also been investigated.^6,7,8,9 In light of the well documented public health significance of air pollution, it is imperative that investigators continue to evaluate details regarding the impact of poor air quality. In particular, it is interesting to note that some research has indicated an increased risk of the young and the elderly being admitted to the hospital …

Short-Term Effects On The Fetus And Long-Term Outcome On Children Exposed To Maternal Chemotherapy, Yocheved Kramer

The Science Journal of the Lander College of Arts and Sciences

Ethical questions with regard to treatment arise when pregnant women are diagnosed with cancer. Does the health of the mother or the health of the fetus take priority? However, research suggests that concern over transplacental transfer should not deter those seeking treatments since avoidance of favorable transfer drugs can allow chemotherapy to be a viable option if properly administered. Doctors highly contraindicate the use of chemotherapeutic drugs in the first trimester due to high risks such as teratogenesis and fetal death. However, they reassure that treatment can be given in the final two trimesters. It presents minimal consequences as long …

Syphilis: The Forgotten Sexually Transmitted Disease. A Brief Case Report, Amy Burnett, Hatim A. Omar

Pediatrics Faculty Publications

Syphilis has declined significantly over the last 30 years. Due to that success, many physicians no longer have the skills to recognize its symptoms. We present a case of syphilis as a demonstration of this fact.

Rare Presentation Of Pancreatitis Secondary To Intussusception Of Duodenal Duplication Cyst, A Pediatric Case Report, Valentina Shakhnovich, Jennifer Colombo, Amita A. Desai, Shawn D. St Peter

Manuscripts, Articles, Book Chapters and Other Papers

No abstract provided.

Heart Of The Matter, Children's Mercy Hospital

Our Story Continues

The Ward Family Heart Center at Children’s Mercy has received approval to begin performing pediatric heart transplants, making it the first healthcare facility in the Kansas City region to offer the life-saving procedure to pediatric patients.

Leading the Children’s Mercy heart transplant team are two nationally recognized experts:

James D. St. Louis, MD, is a board-certified thoracic and cardiac surgeon with more than 15 years of pediatric experience. Dr. St. Louis previously was the Director of Pediatric Cardiac Transplantation at the University of Minnesota Amplatz Children’s Hospital.

Aliessa P. Barnes, MD, is a board-certified pediatric cardiologist specializing in pediatric heart …

Technical Performance Score Is Associated With Outcomes After The Norwood Procedure., Meena Nathan, Lynn A. Sleeper, Richard G. Ohye, Peter C. Frommelt, Christopher A. Caldarone, James S. Tweddell, Minmin Lu, Gail D. Pearson, J William Gaynor, Christian Pizarro, Ismee A. Williams, Steven D. Colan, Carolyn Dunbar-Masterson, Peter J. Gruber, Kevin Hill, Jennifer Hirsch-Romano, Jeffrey P. Jacobs, Jonathan R. Kaltman, S Ram Kumar, David Morales, Scott M. Bradley, Kirk Kanter, Jane W. Newburger, Pediatric Heart Network Investigators, Girish S. Shirali

Manuscripts, Articles, Book Chapters and Other Papers

Objectives: The technical performance score (TPS) has been reported in a single center study to predict the outcomes after congenital cardiac surgery. We sought to determine the association of the TPS with outcomes in patients undergoing the Norwood procedure in the Single Ventricle Reconstruction trial.

Methods: We calculated the TPS (class 1, optimal; class 2, adequate; class 3, inadequate) according to the predischarge echocardiograms analyzed in a core laboratory and unplanned reinterventions that occurred before discharge from the Norwood hospitalization. Multivariable regression examined the association of the TPS with interval to first extubation, Norwood length of stay, death or transplantation, …

Impact Of Pre-Stage Ii Hemodynamics And Pulmonary Artery Anatomy On 12-Month Outcomes In The Pediatric Heart Network Single Ventricle Reconstruction Trial., Ranjit Aiyagari, John F. Rhodes, Peter Shrader, Wolfgang A. Radtke, Varsha M. Bandisode, Lisa Bergersen, Matthew J. Gillespie, Robert G. Gray, Lin T. Guey, Kevin D. Hill, Russel Hirsch, Dennis W. Kim, Kyong-Jin Lee, Andrew N. Pelech, Jeremy Ringewald, Cheryl Takao, Julie A. Vincent, Richard G. Ohye, Pediatric Heart Network Investigators, Girish S. Shirali

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: To compare the interstage cardiac catheterization hemodynamic and angiographic findings between shunt types for the Pediatric Heart Network Single Ventricle Reconstruction trial. The trial, which randomized subjects to a modified Blalock-Taussig shunt (MBTS) or right ventricle-to-pulmonary artery shunt (RVPAS) for the Norwood procedure, demonstrated the RVPAS was associated with a smaller pulmonary artery diameter but superior 12-month transplant-free survival.

METHODS: We analyzed the pre-stage II catheterization data for the trial subjects. The hemodynamic variables and shunt and pulmonary angiographic data were compared between shunt types; their association with 12-month transplant-free survival was also evaluated.

RESULTS: Of 549 randomized subjects, …

Factors Associated With Neurodevelopment For Children With Single Ventricle Lesions., Caren S. Goldberg, Minmin Lu, Lynn A. Sleeper, William T. Mahle, J William Gaynor, Ismee A. Williams, Kathleen A. Mussatto, Richard G. Ohye, Eric M. Graham, Deborah U. Frank, Jeffrey P. Jacobs, Catherine Krawczeski, Linda Lambert, Alan Lewis, Victoria L. Pemberton, Renee Sananes, Erica Sood, Stephanie B. Wechsler, David C. Bellinger, Jane W. Newburger, Pediatric Heart Network Investigators, Girish S. Shirali

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: To measure neurodevelopment at 3 years of age in children with single right-ventricle anomalies and to assess its relationship to Norwood shunt type, neurodevelopment at 14 months of age, and patient and medical factors.

STUDY DESIGN: All subjects in the Single Ventricle Reconstruction Trial who were alive without cardiac transplant were eligible for inclusion. The Ages and Stages Questionnaire (ASQ, n = 203) and other measures of behavior and quality of life were completed at age 3 years. Medical history, including measures of growth, feeding, and complications, was assessed through annual review of the records and phone interviews. The …

Frequency Of Cardiorenal Syndrome Type-I In Hospitalized Children With Acute Heart Failure In A Tertiary-Care Hospital, Mehjabeen Zaidi, Arshalooz Jamila Rehman, Anwarul Haque, Saleem Akhtar, Prem Kumar Maheshwar

Department of Paediatrics and Child Health

Objective: To determine the frequency of cardiorenal syndrome in hospitalized children with acute heart failure.

Study Design: Descriptive study.

Place and Duration of Study: Paediatric Intensive Care Unit, The Aga Khan University Hospital, Karachi, from December 2010 to December 2011.

Methodology: Sixty eight (68) children with acute heart failure fulfilling the selection criteria were evaluated for worsening of renal function (WRF). Serum creatinine was done at baseline and repeated at 72 hours to see the worsening of renal function. Estimated serum creatinine clearance was calculated by Schwartz formula.

Results: Mean age of patients was 43.6 ± 55.2 months. There were …

Frequency Of Retinopathy Of Prematurity In Premature Neonates With A Birth Weight Below 1500 Grams And A Gestational Age Less Than 32 Weeks: A Study From A Tertiary Care Hospital In A Lower-Middle Income Country, Arjumand Sohaila, Shiyam Sunder Tikmani, Iqtidar Ahmed Khan, Huba Atiq, Ali Syed Muhammad Akhtar, Prem Kumar, Kishwer Kumar

Department of Emergency Medicine

Introduction: Retinopathy of prematurity (ROP) is a treatable cause of blindness in neonates. In Pakistan, ROP is often not recognized early because screening and treatment programs are not yet in place in most neonatal units, even in tertiary care hospitals. It is hoped that this report will help inform medical professionals of the magnitude of the problem and help to design appropriate management strategies.

Objectives: The aim was to determine the frequency of ROP in premature and very low birth weight (BW) neonates (BW(GA)weeks).

Study Design: Cross-sectional study.

Study Setting : Neonatal intensive care unit (NICU) of a tertiary care …

Functional Health Status In Children And Adolescents After Fontan: Comparison Of Generic And Disease-Specific Assessments., Brian W. Mccrindle, Victor Zak, Victoria L. Pemberton, Linda M. Lambert, Victoria L. Vetter, Wyman W. Lai, Karen Uzark, Renee Margossian, Andrew M. Atz, Amanda Cook, Jane W. Newburger, Pediatric Heart Network Investigators, Girish S. Shirali

Manuscripts, Articles, Book Chapters and Other Papers

PURPOSE: The aim of this study was to compare associations between generic versus disease-specific functional health status assessments and patient and clinical characteristics for patients with severe congenital heart disease.

METHODS: This was a cross-sectional observational study involving 325 single ventricle patients, aged 10-18 years, after Fontan procedure. Enrolled patients underwent a medical history review, laboratory testing, and assessment of the functional health status by completion of the generic Child Report Child Health Questionnaire and the disease-specific Congenital Heart Adolescent and Teenage questionnaire. Correlated conceptually equivalent domains from both questionnaires were identified and their associations with patient and clinical variables …

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. ( …

Lean Body Mass May Explain Apparent Racial Differences In Carotid Intima-Media Thickness In Obese Children., Shahryar M. Chowdhury, Melissa H. Henshaw, Brad Friedman, J Philip Saul, Girish S. Shirali, Janet Carter, Bryana M. Levitan, Tom Hulsey

Manuscripts, Articles, Book Chapters and Other Papers

Background: Racial differences in carotid intima-media thickness (cIMT) have been suggested to be associated with the disproportionally high prevalence of cardiovascular disease in black adults. The objective of this study was to evaluate the effects of cardiovascular risk factors on the racial differences seen in cIMT in obese children.

Methods: Obese subjects aged 4 to 21 years were recruited prospectively. Height, weight, blood pressure, fasting insulin, glucose, lipid panel, high-sensitivity C-reactive protein, and body composition by dual-energy x-ray absorptiometry were obtained. B-mode carotid imaging was analyzed by a single blinded physician.

Results: A total of 120 subjects (46 white, 74 …

Syphilis: A Forgotten Sexually Transmitted Disease?, Amy Burnett, Hatim A. Omar

Pediatrics Faculty Publications

Syphilis has declined significantly over the last 30 years. Due to that success, many physicians no longer have the skills to recognize its symptoms. We present a case of syphilis as a demonstration of this fact and hope that health professionals in the field of adolescent medicine will think about this diagnosis in their clinical work.

Age Related Clinical Manifestation Of Acute Bacterial Meningitis In Children, Jabeen Fayyaz, Arshalooz Rehman, Akhter Hamid, Munawar Khursheed, Nukhbha Zia, Asher Feroze

Department of Emergency Medicine

Objective: To determine the signs and symptoms of acute bacterial meningitis (ABM) in different age grops of a paediatric population.

Methods: The retrospective study comprised patients who had been admitted through the Emergency Department of Aga Khan University Hospital, Karachi with the relevant diagnosis from September 2009 to September 2011. Case record forms were used to collect data from patient files. Data was collected using variables such as age, gender, presenting complaints, clinical signs and symptoms, computed tomography scan findings and final outcome of patients. There was a minimal risk of breach in patient confidentiality. SPSS 19 was used for …

Rota Virus Diarrhea In Hospitalized Children, Muhammad Irfan Habib, Sayyeda Ghazala Kazi, Khalid Mehmood Ahmed Khan, Nukhba Zia

Department of Emergency Medicine

Objective: To determine the frequency and clinical features of Rota virus diarrhea in children presenting in a tertiary care hospital.

Study Design: A cross-sectional, observational study.

Place and Duration of Study: National Institute of Child Health, Karachi, from January to June 2007.

Methodology: A total of three hundred children of either gender aged 1 month to 5 years, who presented with diarrhea of < 7 days as a primary illness were enrolled. Children with bloody diarrhea or nosocomial gastroenteritis acquired duringhospitalization for other disease were not included. Detection of Rota virus in stool was done by enzyme linked immunoassay.

Results: Out of 300 children, 188 (63%) tested positive and 112 (37%) tested negative for Rota virus. Positive Rota virus cases in 7 – 12 months of age was (n = 34, 18.08%). Overall, 151 (80.3%) children …

Variation In Feeding Practices Following The Norwood Procedure., Linda M. Lambert, Nancy A. Pike, Barbara Medoff-Cooper, Victor Zak, Victoria L. Pemberton, Lisa Young-Borkowski, Martha L. Clabby, Kathryn N. Nelson, Richard G. Ohye, Bethany Trainor, Karen Uzark, Nancy Rudd, Louise Bannister, Rosalind Korsin, David S. Cooper, Christian Pizarro, Sinai C. Zyblewski, Bronwyn H. Bartle, Richard V. Williams, Pediatric Heart Network Investigators, Girish S. Shirali

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVES: To assess variation in feeding practice at hospital discharge after the Norwood procedure, factors associated with tube feeding, and associations among site, feeding mode, and growth before stage II.

STUDY DESIGN: From May 2005 to July 2008, 555 subjects from 15 centers were enrolled in the Pediatric Heart Network Single Ventricle Reconstruction Trial; 432 survivors with feeding data at hospital discharge after the Norwood procedure were analyzed.

RESULTS: Demographic and clinical variables were compared among 4 feeding modes: oral only (n = 140), oral/tube (n = 195), nasogastric tube (N-tube) only (n = 40), and gastrostomy tube (G-tube) only …

Pediatric Gastroesophageal Reflux Disease, Adina Mezrahi

The Science Journal of the Lander College of Arts and Sciences

This objective of this review is to present the known data in regards to Gastroesophageal Reflux Disease (GERD) in infants. Articles with relevant definitions, diagnosis and treatment options were evaluated. It is evident that much controversy exists in the diagnosis and treatment of this disease, and there is the question as whether this disease can be called GERD. Current ability to attribute the symptoms infants present with the disease is still difficult to clarify, despite the fact that as many as 60% of infants show symptoms of this disease. The current testing options have proven to be insufficient in concretely …

Effects Of Whole Body Therapeutic Hypothermia On Gastrointestinal Morbidity And Feeding Tolerance In Infants With Hypoxic Ischemic Encephalopathy., Kimberly M. Thornton, Hongying Dai, Seth Septer, Joshua E. Petrikin

Manuscripts, Articles, Book Chapters and Other Papers

Objective. This retrospective cohort study evaluated the effects of whole body therapeutic hypothermia (WBTH) on gastrointestinal (GI) morbidity and feeding tolerance in infants with moderate-to-severe hypoxic ischemic encephalopathy (HIE). Study Design. Infants ≥ 35 weeks gestational age and ≥1800 grams birth weight with moderate-to-severe HIE treated from 2000 to 2012 were compared. 68 patients had documented strictly defined criteria for WBTH: 32 historical control patients did not receive WBTH (non-WBTH) and 36 cohort patients received WBTH. Result. More of the non-WBTH group infants never initiated enteral feeds (28% versus 6%; P = 0.02), never reached full enteral feeds (38% versus …

Fluid Flow Shear Stress Over Podocytes Is Increased In The Solitary Kidney., Tarak Srivastava, Gianni E. Celsi, Mukut Sharma, Hongying Dai, Ellen T. Mccarthy, Melanie Ruiz, Patricia A. Cudmore, Uri S. Alon, Ram Sharma, Virginia A. Savin

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Glomerular hyperfiltration is emerging as the key risk factor for progression of chronic kidney disease (CKD). Podocytes are exposed to fluid flow shear stress (FFSS) caused by the flow of ultrafiltrate within Bowman's space. The mechanism of hyperfiltration-induced podocyte injury is not clear. We postulated that glomerular hyperfiltration in solitary kidney increases FFSS over podocytes.

METHODS: Infant Sprague-Dawley rats at 5 days of age and C57BL/6J 14-week-old adult mice underwent unilateral nephrectomy. Micropuncture and morphological studies were then performed on 20- and 60-day-old rats. FFSS over podocytes in uninephrectomized rats and mice was calculated using the recently published equation …

Diagnosis, Treatment And Follow-Up In Four Children With Biotinidase Deficiency From Pakistan, Bushra Afroze, Mohammad Wasay

Department of Medicine

Biotinidase deficiency is an inherited disorder in which the vitamin biotin is not recycled. If untreated, affected individuals develop neurological and cutaneous symptoms. Untreated individuals with biotinidase deficiency either succumb to disease or are left with significant morbidity. We describe clinical course and follow-up of 4 children from Pakistan. All 4 presented with classical symptoms of biotinidase deficiency and responded dramatically to oral biotin within days to weeks. Biotinidase deficiency is reported in Pakistani children from different part of world, however; there is no such report from Pakistan. This highlights lack of awareness of biotinidase deficiency among physicians in Pakistan

Multicenter Study Comparing Shunt Type In The Norwood Procedure For Single-Ventricle Lesions: Three-Dimensional Echocardiographic Analysis., Gerald R. Marx, Girish S. Shirali, Jami C. Levine, Lin T. Guey, James F. Cnota, Jeanne M. Baffa, William L. Border, Steve Colan, Gregory Ensing, Mark K. Friedberg, David J. Goldberg, Salim F. Idriss, J Blaine John, Wyman W. Lai, Minmin Lu, Shaji C. Menon, Richard G. Ohye, David Saudek, Pierre C. Wong, Gail D. Pearson, Pediatric Heart Network Investigators

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: The Pediatric Heart Network's Single Ventricle Reconstruction (SVR) trial randomized infants with single right ventricles (RVs) undergoing a Norwood procedure to a modified Blalock-Taussig or RV-to-pulmonary artery shunt. This report compares RV parameters in the 2 groups using 3-dimensional echocardiography.

METHODS AND RESULTS: Three-dimensional echocardiography studies were obtained at 10 of 15 SVR centers. Of the 549 subjects, 314 underwent 3-dimensional echocardiography studies at 1 to 4 time points (pre-Norwood, post-Norwood, pre-stage II, and 14 months) for a total of 757 3-dimensional echocardiography studies. Of these, 565 (75%) were acceptable for analysis. RV volume, mass, mass:volume ratio, ejection fraction, …

Predictors Of Disease Progression In Pediatric Dilated Cardiomyopathy., Kimberly M. Molina, Peter Shrader, Steven D. Colan, Seema Mital, Renee Margossian, Lynn A. Sleeper, Girish S. Shirali, Piers Barker, Charles E. Canter, Karen Altmann, Elizabeth Radojewski, Elif Seda Selamet Tierney, Jack Rychik, Lloyd Y. Tani, Pediatric Heart Network Investigators

Manuscripts, Articles, Book Chapters and Other Papers

Background: Despite medical advances, children with dilated cardiomyopathy (DCM) remain at high risk of death or need for cardiac transplantation. We sought to identify predictors of disease progression in pediatric DCM.

Methods and results: The Pediatric Heart Network evaluated chronic DCM patients with prospective echocardiographic and clinical data collection during an 18-month follow-up. Inclusion criteria were age <22 years and DCM disease duration >2 months. Patients requiring intravenous inotropic/mechanical support or listed status 1A/1B for transplant were excluded. Disease progression was defined as an increase in transplant listing status, hospitalization for heart failure, intravenous inotropes, mechanical support, or death. Predictors of disease progression were identified using …

The Predictive Value Of Renal Ultrasound Of Vesicoureteral Reflux After First Urinary Tract Infection In Neonates And Infants 0-24 Months, Richard J. Mazzaccaro Md, Michael J. Weiss Mph

Department of Pediatrics

No abstract provided.