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PL5 Year Pediatric Endocrinology Goals and Objectives for Clinical Service Months
University of Texas San Antonio Pediatric Endocrinology Fellowship Jane L. Lynch, MD, PD Elia Escaname MD, APD Fellowship Director 2020 PL 5 Year Pediatric Endocrinology Goals and Objectives for Clinical Service Months The goals for the clinical rotations at the Texas Diabetes Institute are to develop the knowledge, attitudes and skills necessary to evaluate, diagnose and manage endocrine conditions in pediatric patients in a manner commensurate with level of training. July 2020 Page 1 COMPETENCIES: PATIENT CARE: Develop proficiency in the care of infants, children, and adolescents with endocrine disorders. Practice the necessary skills for good patient care 1A Goal: Develop proficiency in respectfully gathering essential information through review of pertinent records, interviewing patients and caregivers/family members with particular attention to relevant history, systematic medical assessment and physical exam on a patient with concerns of an endocrine disorder. These skills apply to outpatient, inpatient and research patients. Objectives • Obtain appropriate history and perform a physical exam for patients referred with the following endocrine conditions • Generate a problem list and create an assessment of the patient using up to date nomenclature • Suggest and interpret appropriate laboratory tests and summarize pertinent positive and negative findings with a differential diagnosis. • Develop proficiency in developing a treatment plan based on the endocrine diagnosis • Carry out the care plan with follow-up clinic visits, lab study interpretation and timely review of the results with the attending endocrine physician Endocrine Conditions: 1. Short stature, including constitutional delay 2. Disorders of anterior pituitary hormone physiology, including growth hormone deficiency 3. Disorders of posterior pituitary hormone physiology, including diabetes insipidus 4. -
Clinical Utility Gene Card For: 3-M Syndrome – Update 2013
European Journal of Human Genetics (2014) 22, doi:10.1038/ejhg.2013.156 & 2014 Macmillan Publishers Limited All rights reserved 1018-4813/14 www.nature.com/ejhg CLINICAL UTILITY GENE CARD UPDATE Clinical utility gene card for: 3-M syndrome – Update 2013 Muriel Holder-Espinasse*,1, Melita Irving1 and Vale´rie Cormier-Daire2 European Journal of Human Genetics (2014) 22, doi:10.1038/ejhg.2013.156; published online 31 July 2013 Update to: European Journal of Human Genetics (2011) 19, doi:10.1038/ejhg.2011.32; published online 2 March 2011 1. DISEASE CHARACTERISTICS nonsense and missense mutations c.4333C4T (p.Arg1445*) and 1.1 Name of the disease (synonyms) c.4391A4C (p.His1464Pro), respectively, render CUL7 deficient 3-M syndrome (gloomy face syndrome, dolichospondylic dysplasia). in recruiting ROC1, leading to impaired ubiquitination. OBSL1: microsatellites analysis of the locus (2q35-36.1) in con- 1.2 OMIM# of the disease sanguineous families. OBSL1: microsatellites analysis of the locus 273750. (2q35-36.1) in consanguineous families. Mutations induce non- sense mediated decay. Knockdown of OBSL1 in HEK293 cells 1.3 Name of the analysed genes or DNA/chromosome segments shows the role of this gene in the maintenance of normal levels of CUL7, OBSL1 and CCDC8.1–5 CUL7. Abnormal IGFBP2 andIGFBP5 mRNA levels in two patients with OBSL1 mutations, suggesting that OBSL1 modulates the 1.4 OMIM# of the gene(s) expression of IGFBP proteins. CCDC8: microsatellites analysis 609577 (CUL7), 610991 (OBSL1) and 614145 (CCDC8). at the locus (19q13.2-q13.32). CCDC8, 1-BP DUP, 612G and CCDC8, 1-BP. -
Patient Advocacy Organizations, Industry Funding, and Conflicts of Interest
Supplementary Online Content Rose SL, Highland J, Karafa MT, Joffe S. Patient advocacy organizations, industry funding, and conflicts of interest. JAMA Intern Med. Published online January 17, 2017. doi:10.1001/jamainternmed.2016.8443 eTable 1. Search Terms Used to Identify Organizations eTable 2. Inclusion and Exclusion Criteria eTable 3. Sensitivity Analysis Comparing Survey Responses of Executive and Non-Executive Respondents of Patient Advocacy Organizations (PAOs) eFigure. Survey This supplementary material has been provided by the authors to give readers additional information about their work. © 2017 American Medical Association. All rights reserved. Downloaded From: https://jamanetwork.com/ on 10/01/2021 eTable 1. Search Terms Used to Identify Organizations Aagenaes Syndrome Anoxia Carcinoid Aarskog Syndrome Antiphospholipid Syndrome Carcinoma Aase-Smith Syndrome II Antley-Bixler Syndrome Cardiac Abdominal Cystic Phenotype Cardiogenic Lymphangioma Anxiety Cardiogenic Shock Abdominal Obesity Metabolic Aphasia Cardiomyopathy Syndrome Apraxia Cardiovascular Achondroplasia Arrhythmia Carotid Artery Disease Achromatopsia Arteriosclerosis Celiac Acid Lipase Disease Arthritis Central Cord Syndrome Acoustic Neuroma Asperger Syndrome Cervical Cancer Acquired Hyperostosis Aspergers Chondrodysplasia Punctata Syndrome Asthma Acrocephalosyndactylia Chordoma Astrocytoma Addison Disease Churg-Strauss Syndrome Ataxia ADHD Colon Cancer Atherosclerosis Adie's syndrome Colorectal Cancer Atrial Adrenal Hyperplasia Conduct Disorder Atrial Fibulation -
Trim37-Deficient Mice Recapitulate Several Features of the Multi-Organ
© 2016. Published by The Company of Biologists Ltd | Biology Open (2016) 5, 584-595 doi:10.1242/bio.016246 RESEARCH ARTICLE Trim37-deficient mice recapitulate several features of the multi- organ disorder Mulibrey nanism Kaisa M. Kettunen1,2,3,4, Riitta Karikoski5, Riikka H. Hämäläinen6, Teija T. Toivonen1, Vasily D. Antonenkov7, Natalia Kulesskaya3, Vootele Voikar3, Maarit Hölttä-Vuori8,9, Elina Ikonen8,9, Kirsi Sainio10, Anu Jalanko11, Susann Karlberg12, Niklas Karlberg12, Marita Lipsanen-Nyman12, Jorma Toppari13, Matti Jauhiainen11, J. Kalervo Hiltunen7, Hannu Jalanko14 and Anna-Elina Lehesjoki1,2,3,* ABSTRACT of the human MUL disease and thus provide a good model to study Mulibrey nanism (MUL) is a rare autosomal recessive multi-organ disease pathogenesis related to TRIM37 deficiency, including disorder characterized by severe prenatal-onset growth failure, infertility, non-alcoholic fatty liver disease, cardiomyopathy and infertility, cardiopathy, risk for tumors, fatty liver, and type 2 tumorigenesis. diabetes. MUL is caused by loss-of-function mutations in TRIM37, KEY WORDS: Mulibrey nanism, Infertility, Fatty liver, which encodes an E3 ubiquitin ligase belonging to the tripartite motif Cardiomyopathy, Tumorigenesis, Growth failure (TRIM) protein family and having both peroxisomal and nuclear localization. We describe a congenic Trim37 knock-out mouse INTRODUCTION (Trim37−/−) model for MUL. Trim37−/− mice were viable and had Mulibrey nanism (MUL) is a rare autosomal recessive multi-organ normal weight development until approximately -
Repercussions of Inborn Errors of Immunity on Growth☆ Jornal De Pediatria, Vol
Jornal de Pediatria ISSN: 0021-7557 ISSN: 1678-4782 Sociedade Brasileira de Pediatria Goudouris, Ekaterini Simões; Segundo, Gesmar Rodrigues Silva; Poli, Cecilia Repercussions of inborn errors of immunity on growth☆ Jornal de Pediatria, vol. 95, no. 1, Suppl., 2019, pp. S49-S58 Sociedade Brasileira de Pediatria DOI: https://doi.org/10.1016/j.jped.2018.11.006 Available in: https://www.redalyc.org/articulo.oa?id=399759353007 How to cite Complete issue Scientific Information System Redalyc More information about this article Network of Scientific Journals from Latin America and the Caribbean, Spain and Journal's webpage in redalyc.org Portugal Project academic non-profit, developed under the open access initiative J Pediatr (Rio J). 2019;95(S1):S49---S58 www.jped.com.br REVIEW ARTICLE ଝ Repercussions of inborn errors of immunity on growth a,b,∗ c,d e Ekaterini Simões Goudouris , Gesmar Rodrigues Silva Segundo , Cecilia Poli a Universidade Federal do Rio de Janeiro (UFRJ), Faculdade de Medicina, Departamento de Pediatria, Rio de Janeiro, RJ, Brazil b Universidade Federal do Rio de Janeiro (UFRJ), Instituto de Puericultura e Pediatria Martagão Gesteira (IPPMG), Curso de Especializac¸ão em Alergia e Imunologia Clínica, Rio de Janeiro, RJ, Brazil c Universidade Federal de Uberlândia (UFU), Faculdade de Medicina, Departamento de Pediatria, Uberlândia, MG, Brazil d Universidade Federal de Uberlândia (UFU), Hospital das Clínicas, Programa de Residência Médica em Alergia e Imunologia Pediátrica, Uberlândia, MG, Brazil e Universidad del Desarrollo, -
2021 Western Medical Research Conference
Abstracts J Investig Med: first published as 10.1136/jim-2021-WRMC on 21 December 2020. Downloaded from Genetics I Purpose of Study Genomic sequencing has identified a growing number of genes associated with developmental brain disorders Concurrent session and revealed the overlapping genetic architecture of autism spectrum disorder (ASD) and intellectual disability (ID). Chil- 8:10 AM dren with ASD are often identified first by psychologists or neurologists and the extent of genetic testing or genetics refer- Friday, January 29, 2021 ral is variable. Applying clinical whole genome sequencing (cWGS) early in the diagnostic process has the potential for timely molecular diagnosis and to circumvent the diagnostic 1 PROSPECTIVE STUDY OF EPILEPSY IN NGLY1 odyssey. Here we report a pilot study of cWGS in a clinical DEFICIENCY cohort of young children with ASD. RJ Levy*, CH Frater, WB Galentine, MR Ruzhnikov. Stanford University School of Medicine, Methods Used Children with ASD and cognitive delays/ID Stanford, CA were referred by neurologists or psychologists at a regional healthcare organization. Medical records were used to classify 10.1136/jim-2021-WRMC.1 probands as 1) ASD/ID or 2) complex ASD (defined as 1 or more major malformations, abnormal head circumference, or Purpose of Study To refine the electroclinical phenotype of dysmorphic features). cWGS was performed using either epilepsy in NGLY1 deficiency via prospective clinical and elec- parent-child trio (n=16) or parent-child-affected sibling (multi- troencephalogram (EEG) findings in an international cohort. plex families; n=3). Variants were classified according to Methods Used We performed prospective phenotyping of 28 ACMG guidelines. -
Constrictive Pericarditis and Primary Amenorrhea with Syndactyly in an Iranian Female: Mulibrey Nanism Syndrome
TEHRAN HEART CENTER Case Report Constrictive Pericarditis and Primary Amenorrhea with Syndactyly in an Iranian Female: Mulibrey Nanism Syndrome Tahereh Davarpasand, MD, Maryam Sotoudeh Anvari, MD, Mohammad Naderan, MD*, Mohammad Ali Boroumand, MD, Hossein Ahmadi, MD Tehran Heart Center, Tehran University of Medical Sciences, Tehran, Iran. Received 25 March 2015; Accepted 10 June 2016 Abstract Mulibrey nanism is a rare autosomal recessive syndrome caused by a mutation in the TRIM37 gene with severe growth retardation and multiple organ involvement. Early diagnosis is important because 50% of the patients develop congestive heart failure owing to constrictive pericarditis, and this condition plays a critical role in the final prognosis. A 37-year-old female patient presented with symptoms of dyspnea on exertion and shortness of breath. She had severe growth failure and craniofacial dysmorphic feature. Cardiac evaluation showed constrictive pericarditis, moderate pulmonary hypertension, and mild pericardial effusion. The patient underwent pericardiectomy, but her thick and adhesive pericardium forced the surgeon to do partial pericardiotomy. Our report underlines the importance of attention to probable Mulibrey nanism when confronting patients with primary amenorrhea, growth retardation, and dysmorphic features. Early cardiac examination is of great significance in the course of the disorder, and patients must be pericardiectomized to relieve the symptoms and increase survival. J Teh Univ Heart Ctr 2016;11(4):187-191 This paper should be cited as: Davarpasand T, Sotoudeh Anvari M, Naderan M, Boroumand MA, Ahmadi H. Constrictive Pericarditis and Primary Amenorrhea with Syndactyly in an Iranian Female: Mulibrey Nanism Syndrome. J Teh Univ Heart Ctr 2016;11(4):187-191. -
Handbook for Pediatric Endocrinology Rotation
ENDOCRINOLOGY & DIABETES UNIT 4480 Oak Street, Ambulatory Care Building, Room K4-213, Vancouver, BC V6H 3V4 Endocrine Clinic: 604-875-3611 Diabetes Clinic: 604-875-2868 Reception: 604-875-2117 Administrative Secretary: 604-875-2624 Fax: 604-875-3231 http://endodiab.bcchildrens.ca HANDBOOK FOR PEDIATRIC ENDOCRINOLOGY ROTATION Dr. Shazhan Amed, Head Dr. Jean-Pierre Chanoine Dr. Daniel Metzger Dr. Laura Stewart Dr. Dina Panagiotopoulos Dr. Ralph Rothstein Dr. Brenden Hursh Dr. Danya Fox Dr. Trisha Patel Dr. Fatema Abdulhussein September 13, 2021 www.bcchildrens.ca/endocrinology-diabetes-site/documents/resmanual.pdf Page 1 of 45 September 13, 2021 www.bcchildrens.ca/endocrinology-diabetes-site/documents/resmanual.pdf Page 2 of 45 ENDOCRINOLOGY & DIABETES UNIT HANDBOOK FOR PEDIATRIC ENDOCRINOLOGY ROTATION TABLE OF CONTENTS EDU Rotation-Specific Goals and Objectives (by CanMEDS 2005 roles) Royal College of Physicians and Surgeons of Canada: Objectives of Training in Pediatrics (July 2008). Core Competencies for all Faculty Members in the Department of Pediatrics Grievance Procedures EDU Rotation Responsibilities EDU Paperwork, Guidelines & General Information for Students, Residents, & Fellows Orientation to Nutrition Management for Diabetes: Tips for the Doctor in Clinic and On-call Inpatient Consultations & Inpatient Admissions/Discharges Telephone Tips for On-call Residents & Fellows Diabetes Learning Resources & Links Guidelines for Peri-Procedural Management of Children and Adolescents with Diabetes Who Require General Anesthesia Articles Rose SR, Vogiatzi MG, Copeland KC. A general pediatric approach to evaluating a short child. Pediatrics in Review 26(11):410–420, 2005. Rosen DS. Physiologic growth and development during adolescence. Pediatrics in Review 25(6):194–200, 2004. Kaplowitz PB. -
MECHANISMS in ENDOCRINOLOGY: Novel Genetic Causes of Short Stature
J M Wit and others Genetics of short stature 174:4 R145–R173 Review MECHANISMS IN ENDOCRINOLOGY Novel genetic causes of short stature 1 1 2 2 Jan M Wit , Wilma Oostdijk , Monique Losekoot , Hermine A van Duyvenvoorde , Correspondence Claudia A L Ruivenkamp2 and Sarina G Kant2 should be addressed to J M Wit Departments of 1Paediatrics and 2Clinical Genetics, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, Email The Netherlands [email protected] Abstract The fast technological development, particularly single nucleotide polymorphism array, array-comparative genomic hybridization, and whole exome sequencing, has led to the discovery of many novel genetic causes of growth failure. In this review we discuss a selection of these, according to a diagnostic classification centred on the epiphyseal growth plate. We successively discuss disorders in hormone signalling, paracrine factors, matrix molecules, intracellular pathways, and fundamental cellular processes, followed by chromosomal aberrations including copy number variants (CNVs) and imprinting disorders associated with short stature. Many novel causes of GH deficiency (GHD) as part of combined pituitary hormone deficiency have been uncovered. The most frequent genetic causes of isolated GHD are GH1 and GHRHR defects, but several novel causes have recently been found, such as GHSR, RNPC3, and IFT172 mutations. Besides well-defined causes of GH insensitivity (GHR, STAT5B, IGFALS, IGF1 defects), disorders of NFkB signalling, STAT3 and IGF2 have recently been discovered. Heterozygous IGF1R defects are a relatively frequent cause of prenatal and postnatal growth retardation. TRHA mutations cause a syndromic form of short stature with elevated T3/T4 ratio. Disorders of signalling of various paracrine factors (FGFs, BMPs, WNTs, PTHrP/IHH, and CNP/NPR2) or genetic defects affecting cartilage extracellular matrix usually cause disproportionate short stature. -
Growth Hormone Deficiency and Excessive Sleepiness: a Case Report and Review of the Literature
HHS Public Access Author manuscript Author ManuscriptAuthor Manuscript Author Pediatr Manuscript Author Endocrinol Rev. Manuscript Author Author manuscript; available in PMC 2020 September 01. Published in final edited form as: Pediatr Endocrinol Rev. 2019 September ; 17(1): 41–46. doi:10.17458/ per.vol17.2019.ge.ghdeficiencyandsleepiness. Growth Hormone Deficiency and Excessive Sleepiness: A Case Report and Review of the Literature Anisha Gohil, D.O., Indiana University School of Medicine, Riley Hospital for Children, Fellow, Endocrinology & Diabetes, 705 Riley Hospital Drive, Room 5960, Indianapolis, IN 46202 Erica Eugster, M.D. Indiana University School of Medicine, Riley Hospital for Children, Professor of Pediatrics, 705 Riley Hospital Drive, Room 5960, Indianapolis, IN 46202 Abstract The somatotropic axis is intricately involved in normal sleep, as evidenced by the fact that hypothalamic growth hormone-releasing hormone (GHRH) has sleep promoting effects and pituitary growth hormone (GH) release is strongly associated with slow-wave sleep (SWS). Abnormalities in the somatotropic axis, such as GH deficiency of hypothalamic or pituitary origin, result in an alteration of normal sleep patterns which may explain the fatigue reported in these individuals. Sleep disorders such as narcolepsy, in which individuals abnormally enter rapid eye movement (REM) sleep at sleep onset are also associated with an altered GHRH circadian rhythm and abnormal GH secretion. While few studies are available, this review explores what is known about sleep abnormalities in GH deficiency, the effect of treatment on sleep in patients with GH deficiency, and GH secretion in narcolepsy. Emerging evidence suggests a hypothalamic link between narcolepsy and GH secretion. We also describe the unique constellation of isolated idiopathic GH deficiency and severe excessive sleepiness in adopted Nicaraguan siblings, one of which has narcolepsy and the other idiopathic hypersomnia. -
Pediatric Endocrinology Referral Guidelines
Pediatric Endocrinology Referral Guidelines Thank you for referring your patients to our division. We are striving to provide the best possible experience for your patients and also meet your needs as a primary care provider. To that end, we have created referral guidelines that will help you perform preliminary laboratory and radiologic evaluations prior to your patient seeing one of our subspecialists. Remember, these are just guidelines and if you are unable to perform a work up, we will still see your patient in a timely manner. Also, we are not expecting anyone to interpret the lab or radiology results, thus please call our clinic if you feel there is an urgent consult required. We have attempted to delineate specific cases where an urgent referral is indicated. While we would like all laboratories to be created equal and perform the same test in the same way, they are not. Thus, we usually prefer lab tests to be performed at CPL, LabCorp, Quest, or Esoterix. However, even amongst these facilities, they don’t always have the ideal endocrine tests available and we may send blood to special reference laboratories. We ask that you inform your patients while you are performing a preliminary work up, that there may be other labs or tests that are warranted. We generally prefer to review our own bone ages, as there is a lot of variation amongst radiologists. We have access to studies performed at ARA, ARC, Seton, CPRMC, and some Telerad facilities. If you perform a bone age outside of one of these facilities, please send the image on a CD with your patient. -
Ccr Pediatric Oncology Series
CCR PEDIATRIC ONCOLOGY SERIES CCR Pediatric Oncology Series Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma Jennifer M. Kalish1, Leslie Doros2, Lee J. Helman3, Raoul C. Hennekam4, Roland P. Kuiper5, Saskia M. Maas6, Eamonn R. Maher7, Kim E. Nichols8, Sharon E. Plon9, Christopher C. Porter10, Surya Rednam9, Kris Ann P. Schultz11, Lisa J. States12, Gail E. Tomlinson13, Kristin Zelley14, and Todd E. Druley15 Abstract A number of genetic syndromes have been linked to increased cancer predisposition specialists. At this time, these recommenda- risk for Wilms tumor (WT), hepatoblastoma (HB), and other tions are not based on the differential risk between different embryonal tumors. Here, we outline these rare syndromes with at genetic or epigenetic causes for each syndrome, which some least a 1% risk to develop these tumors and recommend uniform European centers have implemented. This differentiated approach tumor screening recommendations for North America. Specifi- largely represents distinct practice environments between the cally, for syndromes with increased risk for WT, we recommend United States and Europe, and these guidelines are designed to renal ultrasounds every 3 months from birth (or the time of be a broad framework within which physicians and families can diagnosis) through the seventh birthday. For HB, we recommend work together to implement specific screening. Further study is screening with full abdominal ultrasound and alpha-fetoprotein expected to lead to modifications of these recommendations. Clin serum measurements every 3 months from birth (or the time of Cancer Res; 23(13); e115–e22. Ó2017 AACR. diagnosis) through the fourth birthday. We recommend that See all articles in the online-only CCR Pediatric Oncology when possible, these patients be evaluated and monitored by Series.