Medicine and Health Sciences Commons^™

Genetic Testing Practices Of Genetic Counselors, Geneticists, And Pediatric Neurologists With Regard To Childhood-Onset Neurogenetic Conditions, Sara Wofford

Dissertations and Theses (Open Access)

Identifying genetic diagnoses for neurological conditions with a considerable hereditary component, such as autism spectrum disorder (ASD), intellectual disability, and epilepsy, is critical to providing proper medical management for these patients and their families. However, many patients with these conditions are not tested appropriately or receive no genetic testing at all. The current study was designed to characterize the genetic testing practices of the providers most likely to evaluate or order genetic testing for these patients: pediatric neurologists, geneticists, and genetic counselors. The study noted significant variance between the testing strategies selected by pediatric neurologists compared to those of geneticists …

Optimization Of The Resident Didactic Curriculum - High Yield, High Reward!, Abigail Klitsch Do, Kris Rooney Md

Department of Pediatrics

No abstract provided.

Longitudinal Measures Of Deformation Are Associated With A Composite Measure Of Contractility Derived From Pressure-Volume Loop Analysis In Children., Shahryar M. Chowdhury, Ryan J. Butts, Carolyn L. Taylor, Varsha M. Bandisode, Karen S. Chessa, Anthony M. Hlavacek, Arni Nutting, Girish S. Shirali, G Hamilton Baker

Manuscripts, Articles, Book Chapters and Other Papers

Aims: The relationship between echocardiographic measures of left ventricular (LV) systolic function and reference-standard measures have not been assessed in children. The objective of this study was to assess the validity of echocardiographic indices of LV systolic function via direct comparison to a novel composite measure of contractility derived from pressure-volume loop (PVL) analysis.

Methods and results: Children with normal loading conditions undergoing routine left heart catheterization were prospectively enrolled. PVLs were obtained via conductance catheters. A composite invasive composite contractility index (ICCI) was developed using data reduction strategies to combine four measures of contractility derived from PVL analysis. Echocardiograms …

Childhood-Onset Systemic Lupus Erythematosus: A Cohort Study, Shakeel Ahmed, Syed Rehan Ali, Farida Karim, Sidra Ishaque, Iman Qaiser, Kanwal Nayani, Ayesha Ahmed

Department of Paediatrics and Child Health

Objective: To determine the clinical and immunological characteristics and short-term outcome of children with systemic lupus erythematosus (SLE).
Study Design: A descriptive cohort study.
Place and Duration of Study: Paediatric Rheumatology Clinic, The Aga Khan University Hospital, Karachi, from January 2011 to December 2015.
Methodology: Clinical and immunological profile and short-term outcome of children less than 16 years of age admitted in the paediatric ward, with the diagnosis of SLE was studied. Demographic data, clinical presentation, laboratory findings, immunological profile and treatment regimens of these children were evaluated.
Results: Thirty-two children, satisfying the criteria of American College of Rheumatology (ACR) …

Extraction And Analysis Of Vector Flow Imaging Data In A Pediatric Population, Bailey Stinnett

Biomedical Engineering Undergraduate Honors Theses

Vector flow imaging (VFI) is a new ultrasound technology that provides real time, angle-independent visualization of flow velocities in the heart and great vessels. Thus far, VFI has been used for superficial applications due to the limited penetration depth of available transducer probes; however, this depth in smaller pediatric patients enables adequate aortic views. In this project, VFI was used to study pediatric aortic stenosis (PAS)—a congenital heart defect that results in the narrowing of the aorta and/or aortic valve. The decision to refer PAS patients for surgical or catheter-based intervention is initially based on Doppler ultrasound. VFI is potentially …

6-Day-Old Term Infant With Fever And Lethargy, Gangaram Akangire, Archana Kulkarni, Winston M. Manimtim

Manuscripts, Articles, Book Chapters and Other Papers

Osteomyelitis in the neonatal period can be a diagnostic challenge, especially if it is mimicking brachial plexus palsy. We present a unique case of 6-day-old term infant with lethargy and fever diagnosed with Group B Streptococci (GBS) sepsis and meningitis. Few days later, infant developed right arm immobility leading to hematogenous spread of GBS to right humerus, leading to osteomyelitis and septic arthritis. Infant was treated with intravenous Ampicillin for 4 weeks with full arm mobility and full recovery from sepsis and meningitis. This case provides several clinical vignettes that may be crucial in timely diagnosis and treatment of osteomyelitis …

Associations Between Feeding Practices And Growth And Neurodevelopmental Outcomes, Barbara T. Do, Nellie I. Hansen, Carla Bann, Rebecca L. Lander, Shivaprasad S. Goudar, Omrana Pasha, Elwyn Chomba, Sangappa M. Dhaded, Vanessa R. Thorsten, Jan L. Wallander, Fred J. Biasini, Richard Derman, Robert L. Goldenberg, Waldemar A. Carlo

Global Health Articles

Background

Feeding practices over the first several years of a child’s life can critically influence development. The purpose of this study was to examine associations between feeding practices and growth and neurodevelopmental outcomes at 36 months of age among children from low- and low-middle-income countries (LMIC).

Methods

We conducted a secondary analysis using data collected from children in India, Pakistan, and Zambia who were enrolled in a randomized controlled trial of a home-based early development intervention program called Brain Research to Ameliorate Impaired Neurodevelopment Home-based Intervention Trial. Qualitative dietary data collected at 36 months was used to assess the modified …

Prevalence Of Prediabetes, Diabetes, And Its Associated Risk Factors Among Males In Saudi Arabia: A Population-Based Survey, Khaled K. Aldossari, Abdulrahman Aldiab, Jamaan M. Al-Zahrani, Sameer H. Al-Ghamdi, Mohammed Abdelrazik, Mohammed Ali Batais, Sundas Javad, Shanila Nooruddin, Hira Abdul Razzak, Ashraf El-Metwally

Department of Paediatrics and Child Health

Objectives: The study aims at determining the prevalence of prediabetes and diabetes and at ascertaining some concomitant risk factorsamong males in Saudi Arabia.
Methods: A population-based cross-sectional study including 381 Saudi adult males from different institutions was recruited. Odds ratios for diabetes risk and risk factors were calculated using log-binomial and multinomial logistic regression, using STATA version 12.
Results: The participants included 381 diabetic males with a median age of 45 years, average body mass index of 25 ± 40 kg/m², whereas waist circumferences ranged from 66 to 180 cm in the male study population. In addition, 27.82% …

Genomic Dna Methylation-Derived Algorithm Enables Accurate Detection Of Malignant Prostate Tissues, Erfan Aref-Eshghi, Laila C Schenkel, Peter Ainsworth, Hanxin Lin, David I Rodenhiser, Jean-Claude Cutz, Bekim Sadikovic

Paediatrics Publications

Introduction

The current methodology involving diagnosis of prostate cancer (PCa) relies on the pathology examination of prostate needle biopsies, a method with high false negative rates partly due to temporospatial, molecular, and morphological heterogeneity of prostate adenocarcinoma. It is postulated that molecular markers have a potential to assign diagnosis to a considerable portion of undetected prostate tumors. This study examines the genome-wide DNA methylation changes in PCa in search of genomic markers for the development of a diagnostic algorithm for PCa screening.

Methods

Archival PCa and normal tissues were assessed using genomic DNA methylation arrays. Differentially methylated sites and regions …

Ot In Pediatric Primary Care, Anne H. Zachry, J. Flick

Faculty Presentations

This session described a program where licensed occupational therapists and master’s level OT students provide free developmental screenings to infants and young children in local pediatric medical practice. Strategies for strategies for developing relationships and bridging communication between occupational therapists, primary practice physicians, and families were reviewed.

A Global Health Research Checklist For Clinicians., Rasha D Sawaya, Kristen A Breslin, Eiman Abdulrahman, Jennifer I Chapman, Dafina M Good, Lili Moran, Paul C Mullan, Oluwakemi Badaki-Makun

Pediatrics Faculty Publications

Global health research has become a priority in most international medical projects. However, it is a difficult endeavor, especially for a busy clinician. Navigating the ethics, methods, and local partnerships is essential yet daunting.To date, there are no guidelines published to help clinicians initiate and complete successful global health research projects. This Global Health Research Checklist was developed to be used by clinicians or other health professionals for developing, implementing, and completing a successful research project in an international and often low-resource setting. It consists of five sections: Objective, Methodology, Institutional Review Board and Ethics, Culture and partnerships, and Logistics. …

An International Delphi Survey For The Definition Of The Variables For The Development Of New Classification Criteria For Periodic Fever Aphtous Stomatitis Pharingitis Cervical Adenitis (Pfapa)., Federica Vanoni, Silvia Federici, Jordi Antón, Karyl S Barron, Paul Brogan, Fabrizio De Benedetti, Fatma Dedeoglu, Erkan Demirkaya, Veronique Hentgen, Tilmann Kallinich, Ronald Laxer, Ricardo Russo, Natasa Toplak, Yosef Uziel, Alberto Martini, Nicolino Ruperto, Marco Gattorno, Michael Hofer

Paediatrics Publications

Background

Diagnosis of Periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) is currently based on a set of criteria proposed in 1999 modified from Marshall's criteria. Nevertheless no validated evidence based set of classification criteria for PFAPA has been established so far. The aim of this study was to identify candidate classification criteria PFAPA syndrome using international consensus formation through a Delphi questionnaire survey.

Methods

A first open-ended questionnaire was sent to adult and pediatric clinicians/researchers, asking to identify the variables thought most likely to be helpful and relevant for the diagnosis of PFAPA. In a second survey, respondents …

Therapeutic Effect Of Steroids In Osmotic Demyelination Of Infancy., Lalit R. Bansal

Manuscripts, Articles, Book Chapters and Other Papers

An 11-month-old male presented with acute gastroenteritis, seizures, and altered mental status. Laboratory workup revealed serum sodium of 177 mmol/L. Magnetic resonance imaging of the brain showed reduced diffusion in the supratentorial white matter, T2 hyperintensities in the left central pons and midbrain, subacute stroke in the right occipital lobe, and bilateral cerebellar hemorrhagic infarcts. The child was presumed to have hypernatremia-induced central pontine and extrapontine myelinolysis. He received 5 days of high-dose methylprednisolone for persistent encephalopathy and spastic quadriparesis with rapid recovery of his cognitive function and neurological examination. The child remained seizure-free and achieved normal development at 3-month …

An Inpatient Patient Safety Curriculum For Pediatric Residents., John Szymusiak, Michael D Fox, Catherine Polak, Kwonho Jeong, Doris Rubio, Stephanie Dewar, Andrew Urbach, Alda Maria Gonzaga

Department of Pediatrics Faculty Papers

Introduction: Patient safety is recognized as an important part of pediatric resident education. There is a lack of published safety curricula targeting pediatric residents. A local needs assessment showed that while residents felt safety was an important part of their current and future jobs, they did not feel prepared to apply safety principles to their future careers or participate in a root cause analysis (RCA).

Methods: This curriculum was delivered to senior-level pediatric and multiple-board residents during five monthly, hour-long, multidisciplinary sessions. Sessions covered systems-based thinking, terminology, the second victim phenomenon, RCA, and medication errors, while providing feedback on recent …

Medical Decision-Making In Paediatrics: Infancy To Adolescence, Kevin W. Coughlin

Paediatrics Publications

Medical decision-making in the paediatric population is complicated by the wide variation in physical and psychological development that occurs as children progress from infancy to adolescence. Parents and legal guardians are the de facto decision-makers in early infancy, but thereafter, the roles of parents/ legal guardians and paediatric patients become ever more complex. Health care providers (HCPs), while not decision-makers per se, have a significant role in medical decision-making throughout childhood. This statement outlines the ethical principles of medical decision-making for HCPs involved in caring for paediatric patients. This revision focuses on individual decision-making in the context of the patient–provider …

Macrophage-Derived Il-1Β/Nf-Κb Signaling Mediates Parenteral Nutrition-Associated Cholestasis., Karim C El Kasmi, Padade M Vue, Aimee L Anderson, Michael W Devereaux, Swati Ghosh, Natarajan Balasubramaniyan, Sophie A Fillon, Carola Dahrenmoeller, Ayed Allawzi, Crystal Woods, Sarah Mckenna, Clyde J Wright, Linda Johnson, Angelo D'Alessandro, Julie A Reisz, Eva Nozik-Grayck, Frederick J Suchy, Ronald J Sokol

Articles, Abstracts, and Reports

In infants intolerant of enteral feeding because of intestinal disease, parenteral nutrition may be associated with cholestasis, which can progress to end-stage liver disease. Here we show the function of hepatic macrophages and phytosterols in parenteral nutrition-associated cholestasis (PNAC) pathogenesis using a mouse model that recapitulates the human pathophysiology and combines intestinal injury with parenteral nutrition. We combine genetic, molecular, and pharmacological approaches to identify an essential function of hepatic macrophages and IL-1β in PNAC. Pharmacological antagonism of IL-1 signaling or genetic deficiency in CCR2, caspase-1 and caspase-11, or IL-1 receptor (which binds both IL-1α and IL-1β) prevents PNAC in …

Evaluating The Effectiveness Of Text Messaging And Phone Call Reminders To Minimize No Show At Pediatric Outpatient Clinics In Pakistan: Protocol For A Mixed-Methods Study, Sana Saeed, Noureen Somani, Fatima Sharif, Abdul Momin Kazi

Department of Paediatrics and Child Health

Background: Missing health care appointments without canceling in advance results in a no show, a vacant appointment slot that cannot be offered to others. No show can be reduced by reminding patients about their appointment in advance. In this regard, mobile health (mHealth) strategy is to use text messaging (short message service, SMS), which is available on all cellular phones, including cheap low-end handsets. Nonattendance for appointments in health care results in wasted resources and disturbs the planned work schedules.
Objectives: The purpose of this study is to evaluate the efficacy of the current text messaging (SMS) and call-based …

Geospatial Inequalities And Determinants Of Nutritional Status Among Women And Children In Afghanistan: An Observational Study, Nadia Akseer, Zaid Ahmad Bhatti, Taufiq Mashal, Sajid Bashir Soofi, Rahim Moineddin, Robert E Black Md, Zulfiqar Ahmed Bhutta

Department of Paediatrics and Child Health

Background: Undernutrition is a pervasive condition in Afghanistan, and prevalence is among the highest in the world. We aimed to comprehensively assess district-level geographical disparities and determinants of nutritional status (stunting, wasting, or underweight) among women and children in Afghanistan.
Methods: The study used individualised data from the recent Afghanistan National Nutrition Survey 2013. Outcome variables were based on growth and weight anthropometry data, which we analysed linearly as Z scores and as dichotomous categories. We analysed data from a total of almost 14 000 index mother–child pairs using Bayesian spatial and generalised least squares regression models accounting for the …

Does Specialist Physician Supply Affect Pediatric Asthma Health Outcomes?, Guido Filler, Tom Kovesi, Erik Bourdon, Sarah Ann Jones, Laurentiu Givelichian, Cheryl Rockman-Greenberg, Jason Gilliland, Marion Williams, Elaine Orrbine, Bruno Piedboeuf

Paediatrics Publications

Background

Pediatrician and pediatric subspecialist density varies substantially among the various Canadian provinces, as well as among various states in the US. It is unknown whether this variability impacts health outcomes. To study this knowledge gap, we evaluated pediatric asthma admission rates within the 2 Canadian provinces of Manitoba and Saskatchewan, which have similarly sized pediatric populations and substantially different physician densities.

Methods

This was a retrospective cross-sectional cohort study. Health regions defined by the provincial governments, have, in turn, been classified into "peer groups" by Statistics Canada, on the basis of common socio-economic characteristics and socio-demographic determinants of health. …

Seroprevalence Of Anti-Polio Antibodies In Children From Polio High Risk Area Of Afghanistan: A Cross Sectional Survey 2017, Imtiaz Hussain, Ondrej Mach, Nasir A. Hamid, Zaid Bhatti, Deborah D. Moore, Shahid Khan, Hasan Khan, William C. Weldon, Zulfiqar Ahmed Bhutta, Sajid Bashir Soofi

Department of Paediatrics and Child Health

Background: Afghanistan is one of the remaining wild-poliovirus (WPV) endemic countries. We conducted a seroprevalence survey of anti-poliovirus antibodies in Kandahar Province.
Methods: Children in two age groups (6–11 months and 36–48 months) visiting Mirwais hospital in Kandahar for minor ailments unrelated to polio were enrolled. After obtaining informed consent, we collected venous blood and conducted neutralization assay to detect poliovirus neutralizing antibodies.
Results: A total of 420 children were enrolled and 409/420 (97%) were analysed. Seroprevalence to poliovirus type 1 (PV1) was 97% and 100% in the younger and older age groups respectively; it was 71% and 91% for …

Characterization Of Sex-Based Dna Methylation Signatures In The Airways During Early Life., Cesar L Nino, Geovanny F Perez, Natalia Isaza, Maria J Gutierrez, Jose L Gomez, Gustavo Nino

Pediatrics Faculty Publications

Human respiratory conditions are largely influenced by the individual's sex resulting in overall higher risk for males. Sex-based respiratory differences are present at birth suggesting a strong genetic component. Our objective was to characterize early life sex-based genomic signatures determined by variable X-chromosome methylation in the airways. We compared male versus female genome-wide DNA methylation in nasal airway samples from newborns and infants aged 1-6 months (N = 12). We analyzed methylation signals across CpG sites mapped to each X-linked gene using an unsupervised classifier (principal components) followed by an internal evaluation and an exhaustive cross-validation. Results were validated in …

Treating Pediatric Neuromuscular Disorders: The Future Is Now, James J Dowling, Hernan D Gonorazky, Ronald D Cohn, Craig Campbell

Paediatrics Publications

Pediatric neuromuscular diseases encompass all disorders with onset in childhood and where the primary area of pathology is in the peripheral nervous system. These conditions are largely genetic in etiology, and only those with a genetic underpinning will be presented in this review. This includes disorders of the anterior horn cell (e.g., spinal muscular atrophy), peripheral nerve (e.g., Charcot-Marie-Tooth disease), the neuromuscular junction (e.g., congenital myasthenic syndrome), and the muscle (myopathies and muscular dystrophies). Historically, pediatric neuromuscular disorders have uniformly been considered to be without treatment possibilities and to have dire prognoses. This perception has gradually changed, starting in part …

The Turkish Version Of The Juvenile Arthritis Multidimensional Assessment Report (Jamar), Erkan Demirkaya, Seza Ozen, Betul Sozeri, Nuray Aktay Ayaz, Ozgur Kasapcopur, Erbil Unsal, Balahan Bora Makay, Kenan Barut, Berna Eren Fidanci, Dogan Simsek, Mustafa Cakan, Alessandro Consolaro, Francesca Bovis, Nicolino Ruperto

Paediatrics Publications

The Juvenile Arthritis Multidimensional Assessment Report (JAMAR) is a new parent/patient reported outcome measure that enables a thorough assessment of the disease status in children with juvenile idiopathic arthritis (JIA). We report the results of the cross-cultural adaptation and validation of the parent and patient versions of the JAMAR in the Turkish language. The reading comprehension of the questionnaire was tested in 10 JIA parents and patients. Each participating centre was asked to collect demographic, clinical data and the JAMAR in 100 consecutive JIA patients or all consecutive patients seen in a 6-month period and to administer the JAMAR to …

Pupillometric Assessment Of Small Doses Of Opioid In A Pediatric Population, David Strum, Elizabeth Malphrus, Kevin Jackson, Julia Finkel

GW Research Days 2016 - 2020

According to the CDC, opioid prescriptions in the United States have more than tripled from 1999-2014, which has correlated with the staggering increase in opioid-involved drug overdose deaths. This pattern of prescription is thought to be a major contributory factor to the increase in drug overdose in America, as four out of five new heroin users started by misusing prescription painkillers. Providers need the means to objectively monitor analgesic efficacy of treatment in patients with pain to mitigate unnecessary analgesic prescribing.

It is well established that mu opioid agonists like morphine cause miosis, an effect to which tolerance does not …

Characteristics Of Correctly Identified Pediatric Obesity And Overweight Status And Management In An Academic General Pediatric Clinic, Ana Morais, Joseph Kelly, James E. Bost, Susma Vaidya

GW Research Days 2016 - 2020

Objective: The goals of this study were to identify and characterize the rates of documentation and guideline-based management of overweight and obese children within an academic pediatric clinic.

Population/Methods: Overweight, obese, and severely obese children were identified from 7,422 well child visits in 2016 within a primary care clinic that cares for a primarily urban, minority (80% African American), and Medicaid (85%) population until the age of 12. During this 1-year study, there were 79 pediatric residents, 19 attending pediatricians, and 5 nurse practitioners who treated patients. Through a retrospective electronic medical record review, diagnosis and treatment including counseling, …

Parental Compliance For Two Stage Fowler-Stephens Laparoscopic Orchiopexy: Is Everyone Following Up For The Second Stage And, If Not, Who Is At Risk?, Campbell Grant, H. Gil Rushton, Tanya D. Davis

GW Research Days 2016 - 2020

Purpose: Patients undergoing a two-stage Fowler-Stephens laparoscopic orchiopexy for intra-abdominal testes are typically recommended to undergo the second stage 4-6 months after the first stage. . As part of a quality care initiative, our studied examined if patients were in fact following up within this window and, if not, why patients were lost to follow up.

Materials and Methods: We retrospectively reviewed a cohort of 105 patients who underwent the first stage of a 2-stage Fowler-Stephens orchidopexy at our institution between 1/2005 to 1/2015. Bivariate and multivariate analyses were performed to compare clinical, surgical, and socioeconomic factors. Patients identified as …

Resilience Of Children With Chronic Health Conditions: The Impact Of Neuropsychiatric Comorbidities, Sarah Bernstein, Sandra Cushner-Weinstein

GW Research Days 2016 - 2020

BACKGROUND: Resilience, the ability to overcome adversity and effectively recover from stressful experiences, is a complex theory with many contributing factors. Previous studies have shown that condition-specific summer camps for children with chronic health conditions increase resilience and adaptive coping skills, change attitudes toward the illness, and improve quality of life. The aim of this study was to determine how neuropsychiatric comorbid diagnoses such as attention deficit hyperactivity disorder (ADHD), learning disability, and anxiety disorder influence the resilience of children with chronic health conditions.

METHODS: Children with chronic health conditions including autism, epilepsy, cerebral palsy, Tourette’s syndrome, sickle cell anemia, …

Implementation Of A Guideline-Based Nontuberculous Mycobacteria Management Algorithm, Claire Elson, Ellen Meier, Douglas Swanson, Christopher M. Oermann

Posters

Nontuberculous mycobacterial (NTM) disease is a challenge to manage in patients with cystic fibrosis (CF). Diagnosis of NTM pulmonary disease is complex. Effective treatment requires long term, multi-drug therapy delivered by several routes. Consensus recommendations published in 2016 were developed to guide CF providers in NTM screening, diagnosis and management. Primary Outcomes. Children’s Mercy-Kansas City (CMKC) developed an NTM working group to facilitate implementation of standardized NTM management. Methods. NTM working group: Pulmonologist (CF Center Director), Infectious Diseases specialist, nurse practitioner (CF Center Coordinator), and pharmacist. Sought expertise from the Director of Microbiology Laboratory regarding susceptibility testing. Developed NTM Management …

Non O1, Non O139 Vibrio Cholerae Bacteraemia In An Infant; Case Report And Literature Review, Mirza Zain Baig, Umme Hani Abdullah, Yusra Shafquat, Khadija Nuzhat Humayun, Afia Zafar

Medical College Documents

Non 01, Non O139 Vibrio cholerae bacteraemia is a rare but potentially fatal occurrence. There have been very few incidents of this infection from around the world. The treatment regimen of antibiotics also varies in literature. We present a case of bacteraemia caused by Non O1, Non O139 Vibrio cholerae along with associated risk factors, disease manifestations, laboratory diagnosis and treatment regimen. This serves to add additional information regarding symptoms and signs of this infection along with management of patient. Knowledge regarding this topic shall be highly useful to professionals if further cases are detected. In the discussion section, a …

Diagnostic Dilemma Of Patients With Methylmalonic Aciduria: Experience From A Tertiary Care Centre In Pakistan, Hafsa Majid, Aysha Habib Khan, Lena Jafri, Azeema Jamil, Nasir Yousufzai, Midhat Fatima, Zeba Zulfiqar Ali, Bushra Afroze

Department of Pathology and Laboratory Medicine

Objective: To determine the frequency of disorders leading to methylmalonic acidurias.
Methods: This cross-sectional study was conducted from January 2013 to April 2016 at the Aga Khan University Hospital, Karachi, and comprised patients diagnosed with methylmalonic acidurias based on urine organic acid analysis. Clinical history and biochemical data was collected from the biochemical genetics laboratory requisition forms. Organic acid chromatograms of all the subjects were critically reviewed by a biochemical pathologist and a metabolic physician. For assessing the clinical outcome, medical charts of the patients were reviewed. SPSS 19 was used for data analysis.
Results: Of the 1,778 patients 50(2.81%) …