Diagnoses Cue Sheet, P-00920
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Inherited Cerebellar Ataxia in Childhood: a Pattern-Recognition Approach Using Brain MRI
REVIEW ARTICLE Inherited Cerebellar Ataxia in Childhood: A Pattern-Recognition Approach Using Brain MRI L. Vedolin, G. Gonzalez, C.F. Souza, C. Lourenc¸o, and A.J. Barkovich ABSTRACT SUMMARY: Ataxia is the principal symptom of many common neurologic diseases in childhood. Ataxias caused by dysfunction of the cerebellum occur in acute, intermittent, and progressive disorders. Most of the chronic progressive processes are secondary to degen- erative and metabolic diseases. In addition, congenital malformation of the midbrain and hindbrain can also be present, with posterior fossa symptoms related to ataxia. Brain MR imaging is the most accurate imaging technique to investigate these patients, and imaging abnormalities include size, shape, and/or signal of the brain stem and/or cerebellum. Supratentorial and cord lesions are also common. This review will discuss a pattern-recognition approach to inherited cerebellar ataxia in childhood. The purpose is to provide a comprehensive discussion that ultimately could help neuroradiologists better manage this important topic in pediatric neurology. ABBREVIATIONS: AR ϭ autosomal recessive; CAC ϭ cerebellar ataxia in childhood; 4H ϭ hypomyelination with hypogonadotropic hypogonadism and hypodon- tia; JSRD ϭ Joubert syndrome and related disorders; OPHN1 ϭ oligophrenin-1 taxia is an inability to coordinate voluntary muscle move- plastic/paraneoplastic disorders, immune-mediated/demyelinat- Aments that cannot be attributed to weakness or involuntary ing disorders, and drugs/toxins (antiepileptic medications, -
The National Economic Burden of Rare Disease Study February 2021
Acknowledgements This study was sponsored by the EveryLife Foundation for Rare Diseases and made possible through the collaborative efforts of the national rare disease community and key stakeholders. The EveryLife Foundation thanks all those who shared their expertise and insights to provide invaluable input to the study including: the Lewin Group, the EveryLife Community Congress membership, the Technical Advisory Group for this study, leadership from the National Center for Advancing Translational Sciences (NCATS) at the National Institutes of Health (NIH), the Undiagnosed Diseases Network (UDN), the Little Hercules Foundation, the Rare Disease Legislative Advocates (RDLA) Advisory Committee, SmithSolve, and our study funders. Most especially, we thank the members of our rare disease patient and caregiver community who participated in this effort and have helped to transform their lived experience into quantifiable data. LEWIN GROUP PROJECT STAFF Grace Yang, MPA, MA, Vice President Inna Cintina, PhD, Senior Consultant Matt Zhou, BS, Research Consultant Daniel Emont, MPH, Research Consultant Janice Lin, BS, Consultant Samuel Kallman, BA, BS, Research Consultant EVERYLIFE FOUNDATION PROJECT STAFF Annie Kennedy, BS, Chief of Policy and Advocacy Julia Jenkins, BA, Executive Director Jamie Sullivan, MPH, Director of Policy TECHNICAL ADVISORY GROUP Annie Kennedy, BS, Chief of Policy & Advocacy, EveryLife Foundation for Rare Diseases Anne Pariser, MD, Director, Office of Rare Diseases Research, National Center for Advancing Translational Sciences (NCATS), National Institutes of Health Elisabeth M. Oehrlein, PhD, MS, Senior Director, Research and Programs, National Health Council Christina Hartman, Senior Director of Advocacy, The Assistance Fund Kathleen Stratton, National Academies of Science, Engineering and Medicine (NASEM) Steve Silvestri, Director, Government Affairs, Neurocrine Biosciences Inc. -
Neonatal Dermatology Review
NEONATAL Advanced Desert DERMATOLOGY Dermatology Jennifer Peterson Kevin Svancara Jonathan Bellew DISCLOSURES No relevant financial relationships to disclose Off-label use of acitretin in ichthyoses will be discussed PHYSIOLOGIC Vernix caseosa . Creamy biofilm . Present at birth . Opsonizing, antibacterial, antifungal, antiparasitic activity Cutis marmorata . Reticular, blanchable vascular mottling on extremities > trunk/face . Response to cold . Disappears on re-warming . Associations (if persistent) . Down syndrome . Trisomy 18 . Cornelia de Lange syndrome PHYSIOLOGIC Milia . Hard palate – Bohn’s nodules . Oral mucosa – Epstein pearls . Associations . Bazex-Dupre-Christol syndrome (XLD) . BCCs, follicular atrophoderma, hypohidrosis, hypotrichosis . Rombo syndrome . BCCs, vermiculate atrophoderma, trichoepitheliomas . Oro-facial-digital syndrome (type 1, XLD) . Basal cell nevus (Gorlin) syndrome . Brooke-Spiegler syndrome . Pachyonychia congenita type II (Jackson-Lawler) . Atrichia with papular lesions . Down syndrome . Secondary . Porphyria cutanea tarda . Epidermolysis bullosa TRANSIENT, NON-INFECTIOUS Transient neonatal pustular melanosis . Birth . Pustules hyperpigmented macules with collarette of scale . Resolve within 4 weeks . Neutrophils Erythema toxicum neonatorum . Full term . 24-48 hours . Erythematous macules, papules, pustules, wheals . Eosinophils Neonatal acne (neonatal cephalic pustulosis) . First 30 days . Malassezia globosa & sympoidalis overgrowth TRANSIENT, NON-INFECTIOUS Miliaria . First weeks . Eccrine -
Approach to a Case of Congenital Heart Disease
BAI JERBAI WADIA HOSPITAL FOR CHILDREN PEDIATRIC CLINICS FOR POST GRADUATES PREFACE This book is a compilation of the discussions carried out at the course for post-graduates on ” Clinical Practical Pediatrics” at the Bai Jerbai Wadia Hospital for Children, Mumbai. It has been prepared by the teaching faculty of the course and will be a ready-reckoner for the exam-going participants. This manual covers the most commonly asked cases in Pediatric Practical examinations in our country and we hope that it will help the students in their practical examinations. An appropriately taken history, properly elicited clinical signs, logical diagnosis with the differential diagnosis and sound management principles definitely give the examiner the feeling that the candidate is fit to be a consultant of tomorrow. Wishing you all the very best for your forthcoming examinations. Dr.N.C.Joshi Dr.S.S.Prabhu Program Directors. FOREWARD I am very happy to say that the hospital has taken an initiative to organize this CME for the postgraduate students. The hospital is completing 75 years of its existence and has 2 done marvelous work in providing excellent sevices to the children belonging to the poor society of Mumbai and the country. The hospital gets cases referred from all over the country and I am proud to say that the referrals has stood the confidence imposed on the hospital and its faculty. We do get even the rarest of the rare cases which get diagnosed and treated. I am sure all of you will be immensely benefited by this programme. Wish you all the best in your examination and career. -
CARE PLAN Electrolyte and Fluid Imbalance
CARE PLAN Electrolyte and Fluid Imbalance . Related to: Check all that apply Endocrine dysfunction Treatment/Drug side effects Urinary difficulties Nutritional deficiency Tissue trauma Renal dysfunction Post-op complications Trauma Other _____________ Status: Achieved/ Progressing/Not Date/Select Outcome Select Interventions Met (comment for negative variances) Serum electrolytes, Perform initial/routine BUN, blood gases will assessments, assess be within desired limits for neurological manifestations indicating electrolyte imbalance. Report findings to clinician (MD, PA, NP) promptly. Implement therapeutic actions (i.e., appropriate diet, administer replacement electrolytes—sodium bicarb, mag sulfate, etc., as ordered) Assess/monitor serum levels of electrolytes; report finding to MD promptly Monitor for associated complications Absence of cardiac Assess/monitor cardiac dysrhythmias rhythm Published by Cinahl Information Systems, a division of EBSCO Information Services. Copyright©2016, Cinahl Information Systems. All rights reserved. No part of this may be reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, or by any information storage and retrieval system, without permission in writing from the publisher. Cinahl Information Systems accepts no liability for advice or information given herein or errors/omissions in the text. It is merely intended as a general informational overview of the subject for the healthcare professional. Cinahl Information Systems, 1509 Wilson Terrace, -
Basilar Artery and Its Branches Called Pontine Arteries
3 Farah Mohammad Ahmad Al-Tarefe Mohammad Al salem تذكر أ َّن : أولئك الذين بداخلهم شيء يفوق كل الظروف ، هم فقط من استطاعوا أ ّن يحققوا انجازاً رائعاً .... كن ذا همة Recommendation: Study this sheet after you finish the whole anatomy material . Dr.Alsalem started talking about the blood supply for brain and spinal cord which are mentioned in sheet#5 so that we didn't write them . 26:00-56:27/ Rec.Lab#3 Let start : Medulla oblengata : we will study the blood supply in two levels . A- Close medulla (central canal) : It is divided into four regions ; medial , anteromedial , posteriolateral and posterior region. Medially : anterior spinal artery. Anteromedial: vertebral artery posterolateral : posterior inferior cerebellar artery ( PICA). Posterior : posterior spinal artery which is a branch from PICA. B-Open medulla ( 4th ventricle ) : It is divided into four regions ; medial , anteromedial , posteriolateral region. Medially : anterior spinal artery. Anteromedial: vertebral artery posterolateral : posterior inferior cerebellar artery ( PICA). 1 | P a g e Lesions: 1- Medial medullary syndrome (Dejerine syndrome): It is caused by a lesion in anterior spinal artery which supplies the area close to the mid line. Symptoms: (keep your eyes on right pic). Contralateral hemiparesis= weakness: the pyramid will be affected . Contralateral loss of proprioception , fine touch and vibration (medial lemniscus). Deviation of the tongue to the ipsilateral side when it is protruded (hypoglossal root or nucleus injury). This syndrome is characterized by Alternating hemiplegia MRI from Open Medulla (notice the 4th ventricle) Note :The Alternating hemiplegia means ; 1- The upper and lower limbs are paralyzed in the contralateral side of lesion = upper motor neuron lesion . -
A Brazilian Cohort of Individuals with Phelan-Mcdermid Syndrome
Samogy-Costa et al. Journal of Neurodevelopmental Disorders (2019) 11:13 https://doi.org/10.1186/s11689-019-9273-1 RESEARCH Open Access A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype- phenotype correlation and identification of an atypical case Claudia Ismania Samogy-Costa1†, Elisa Varella-Branco1†, Frederico Monfardini1, Helen Ferraz2, Rodrigo Ambrósio Fock3, Ricardo Henrique Almeida Barbosa3, André Luiz Santos Pessoa4,5, Ana Beatriz Alvarez Perez3, Naila Lourenço1, Maria Vibranovski1, Ana Krepischi1, Carla Rosenberg1 and Maria Rita Passos-Bueno1* Abstract Background: Phelan-McDermid syndrome (PMS) is a rare genetic disorder characterized by global developmental delay, intellectual disability (ID), autism spectrum disorder (ASD), and mild dysmorphisms associated with several comorbidities caused by SHANK3 loss-of-function mutations. Although SHANK3 haploinsufficiency has been associated with the major neurological symptoms of PMS, it cannot explain the clinical variability seen among individuals. Our goals were to characterize a Brazilian cohort of PMS individuals, explore the genotype-phenotype correlation underlying this syndrome, and describe an atypical individual with mild phenotype. Methodology: A total of 34 PMS individuals were clinically and genetically evaluated. Data were obtained by a questionnaire answered by parents, and dysmorphic features were assessed via photographic evaluation. We analyzed 22q13.3 deletions and other potentially pathogenic copy number variants (CNVs) and also performed genotype-phenotype correlation analysis to determine whether comorbidities, speech status, and ASD correlate to deletion size. Finally, a Brazilian cohort of 829 ASD individuals and another independent cohort of 2297 ID individuals was used to determine the frequency of PMS in these disorders. Results: Our data showed that 21% (6/29) of the PMS individuals presented an additional rare CNV, which may contribute to clinical variability in PMS. -
Alternating Hemiplegia of Childhood Syndrome
orphananesthesia Anaesthesia recommendations for Alternating Hemiplegia of Childhood syndrome Disease name: Alternating hemiplegia of childhood syndrome (AHC) ICD 10: G98 Synonyms: AHC syndrome (An ATP1A3-related neurologic disorder). AHC was named for its most striking and diagnostic motor symptom; however, the range of manifestations show it to be a CNS disorder affecting function broadly in various brain circuits, heart and the disease evolves with age. Disease summary: AHC is a very rare neurological disorder first described in 1971 which has received increasing interest recently [1]. It is characterized by hemiplegia of either side of the body, paroxysmal tonic or dystonic spells, oculomotor abnormalities and developmental delay.2-4 Onset occurs before 18 months of age. This condition is diagnosed based on the occurrence of the above combination of symptoms, is usually due to de novo pathogenic variant in ATP1A3 and has also been reported in a few families [2-3]. Onset and progression of neurological symptoms have been well characterized. While the course and severity of deficits can vary considerably, there appears to be progression over time, at least in some patients. The differential diagnosis of AHC includes familial hemiplegic migraine (FHM) syndromes (e.g. FHM1-CACNA1A; FHM2-ATP1A2), episodic ataxia type 6, glutamate transporter disorders (SLC1A3), glucose transporter defects, GLUT1 deficiency (SLC2A1), infantile onset epileptic encephalopathies, severe myoclonic epilepsy of infancy (Dravet syn- drome), SCN1A mutations, mitochondrial disorders, and disorders of dopamine biosynthesis/ neurotransmitter disorders. The prevalence has been estimated at 1:1,000,000 with most cases being due to de novo mutations [4-6]. Triggers in AHC and other ATP1A3 related diseases that can induce paroxysmal episodes in AHC are frequent. -
Genetic Syndromes and Genes Involved
ndrom Sy es tic & e G n e e n G e f Connell et al., J Genet Syndr Gene Ther 2013, 4:2 T o Journal of Genetic Syndromes h l e a r n a DOI: 10.4172/2157-7412.1000127 r p u y o J & Gene Therapy ISSN: 2157-7412 Review Article Open Access Genetic Syndromes and Genes Involved in the Development of the Female Reproductive Tract: A Possible Role for Gene Therapy Connell MT1, Owen CM2 and Segars JH3* 1Department of Obstetrics and Gynecology, Truman Medical Center, Kansas City, Missouri 2Department of Obstetrics and Gynecology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 3Program in Reproductive and Adult Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA Abstract Müllerian and vaginal anomalies are congenital malformations of the female reproductive tract resulting from alterations in the normal developmental pathway of the uterus, cervix, fallopian tubes, and vagina. The most common of the Müllerian anomalies affect the uterus and may adversely impact reproductive outcomes highlighting the importance of gaining understanding of the genetic mechanisms that govern normal and abnormal development of the female reproductive tract. Modern molecular genetics with study of knock out animal models as well as several genetic syndromes featuring abnormalities of the female reproductive tract have identified candidate genes significant to this developmental pathway. Further emphasizing the importance of understanding female reproductive tract development, recent evidence has demonstrated expression of embryologically significant genes in the endometrium of adult mice and humans. This recent work suggests that these genes not only play a role in the proper structural development of the female reproductive tract but also may persist in adults to regulate proper function of the endometrium of the uterus. -
A Randomized Controlled Trial of Intranasal Oxytocin in Phelan-Mcdermid Syndrome
A Randomized Controlled Trial of Intranasal Oxytocin in Phelan-McDermid Syndrome Jarrett Fastman Icahn School of Medicine at Mount Sinai Jennifer Foss-Feig Icahn School of Medicine at Mount Sinai Yitzchak Frank Icahn School of Medicine at Mount Sinai Danielle Halpern Icahn School of Medicine at Mount Sinai Hala Harony-Nicolas Icahn School of Medicine at Mount Sinai Christina Layton Icahn School of Medicine at Mount Sinai Sven Sandin Icahn School of Medicine at Mount Sinai Paige Siper Icahn School of Medicine at Mount Sinai Lara Tang Icahn School of Medicine at Mount Sinai Pilar Trelles Icahn School of Medicine at Mount Sinai Jessica Zweifach Icahn School of Medicine at Mount Sinai Joseph D. Buxbaum Icahn School of Medicine at Mount Sinai Alexander Kolevzon ( [email protected] ) Icahn School of Medicine at Mount Sinai https://orcid.org/0000-0001-8129-2671 Research Article Keywords: Phelan-McDermid syndrome, PMS, shank3, autism spectrum disorder, ASD, oxytocin Posted Date: March 5th, 2021 Page 1/24 DOI: https://doi.org/10.21203/rs.3.rs-268151/v1 License: This work is licensed under a Creative Commons Attribution 4.0 International License. Read Full License Page 2/24 Abstract Background Phelan-McDermid syndrome (PMS) is a rare neurodevelopmental disorder caused by haploinsuciency of the SHANK3 gene and characterized by global developmental delays, decits in speech and motor function, and autism spectrum disorder (ASD). Monogenic causes of ASD such as PMS are well suited to investigations with novel therapeutics, as interventions can be targeted based on established genetic etiology. While preclinical studies have demonstrated that the neuropeptide oxytocin can reverse electrophysiological, attentional, and social recognition memory decits in Shank3-decient rats, there have been no trials in individuals with PMS. -
22Q13.3 Deletion Syndrome
22q13.3 deletion syndrome Description 22q13.3 deletion syndrome, which is also known as Phelan-McDermid syndrome, is a disorder caused by the loss of a small piece of chromosome 22. The deletion occurs near the end of the chromosome at a location designated q13.3. The features of 22q13.3 deletion syndrome vary widely and involve many parts of the body. Characteristic signs and symptoms include developmental delay, moderate to profound intellectual disability, decreased muscle tone (hypotonia), and absent or delayed speech. Some people with this condition have autism or autistic-like behavior that affects communication and social interaction, such as poor eye contact, sensitivity to touch, and aggressive behaviors. They may also chew on non-food items such as clothing. Less frequently, people with this condition have seizures or lose skills they had already acquired (developmental regression). Individuals with 22q13.3 deletion syndrome tend to have a decreased sensitivity to pain. Many also have a reduced ability to sweat, which can lead to a greater risk of overheating and dehydration. Some people with this condition have episodes of frequent vomiting and nausea (cyclic vomiting) and backflow of stomach acids into the esophagus (gastroesophageal reflux). People with 22q13.3 deletion syndrome typically have distinctive facial features, including a long, narrow head; prominent ears; a pointed chin; droopy eyelids (ptosis); and deep-set eyes. Other physical features seen with this condition include large and fleshy hands and/or feet, a fusion of the second and third toes (syndactyly), and small or abnormal toenails. Some affected individuals have rapid (accelerated) growth. -
Genes in Eyecare Geneseyedoc 3 W.M
Genes in Eyecare geneseyedoc 3 W.M. Lyle and T.D. Williams 15 Mar 04 This information has been gathered from several sources; however, the principal source is V. A. McKusick’s Mendelian Inheritance in Man on CD-ROM. Baltimore, Johns Hopkins University Press, 1998. Other sources include McKusick’s, Mendelian Inheritance in Man. Catalogs of Human Genes and Genetic Disorders. Baltimore. Johns Hopkins University Press 1998 (12th edition). http://www.ncbi.nlm.nih.gov/Omim See also S.P.Daiger, L.S. Sullivan, and B.J.F. Rossiter Ret Net http://www.sph.uth.tmc.edu/Retnet disease.htm/. Also E.I. Traboulsi’s, Genetic Diseases of the Eye, New York, Oxford University Press, 1998. And Genetics in Primary Eyecare and Clinical Medicine by M.R. Seashore and R.S.Wappner, Appleton and Lange 1996. M. Ridley’s book Genome published in 2000 by Perennial provides additional information. Ridley estimates that we have 60,000 to 80,000 genes. See also R.M. Henig’s book The Monk in the Garden: The Lost and Found Genius of Gregor Mendel, published by Houghton Mifflin in 2001 which tells about the Father of Genetics. The 3rd edition of F. H. Roy’s book Ocular Syndromes and Systemic Diseases published by Lippincott Williams & Wilkins in 2002 facilitates differential diagnosis. Additional information is provided in D. Pavan-Langston’s Manual of Ocular Diagnosis and Therapy (5th edition) published by Lippincott Williams & Wilkins in 2002. M.A. Foote wrote Basic Human Genetics for Medical Writers in the AMWA Journal 2002;17:7-17. A compilation such as this might suggest that one gene = one disease.