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Iron Dysregulation in Movement Disorders
Neurobiology of Disease 46 (2012) 1–18 Contents lists available at SciVerse ScienceDirect Neurobiology of Disease journal homepage: www.elsevier.com/locate/ynbdi Review Iron dysregulation in movement disorders Petr Dusek a,c, Joseph Jankovic a,⁎, Weidong Le b a Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA b Parkinson's Disease Research Laboratory, Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA c Department of Neurology and Center of Clinical Neuroscience, Charles University in Prague, 1st Faculty of Medicine and General University Hospital, Prague, Czech Republic article info abstract Article history: Iron is an essential element necessary for energy production, DNA and neurotransmitter synthesis, myelination Received 9 November 2011 and phospholipid metabolism. Neurodegeneration with brain iron accumulation (NBIA) involves several genetic Revised 22 December 2011 disorders, two of which, aceruloplasminemia and neuroferritinopathy, are caused by mutations in genes directly Accepted 31 December 2011 involved in iron metabolic pathway, and others, such as pantothenate-kinase 2, phospholipase-A2 and fatty acid Available online 12 January 2012 2-hydroxylase associated neurodegeneration, are caused by mutations in genes coding for proteins involved in phospholipid metabolism. Phospholipids are major constituents of myelin and iron accumulation has been linked Keywords: Iron to myelin derangements. Another group of NBIAs is caused by mutations in lysosomal enzymes or transporters Neurodegeneration such as ATP13A2, mucolipin-1 and possibly also β-galactosidase and α-fucosidase. Increased cellular iron uptake Dystonia in these diseases may be caused by impaired recycling of iron which normally involves lysosomes. -
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. -
Total Serum Phosphate Levels Less Than 3.0 Mg/Dl. • Mild Hypophosp
HYPOPHOSPHATEMIA DEFINITION: Total serum phosphate levels less than 3.0 mg/dL. Mild hypophosphatemia: 2.5-3.0 mg/dL. Moderate hypophosphatemia: 1.0-2.5 mg/dL. Severe hypophosphatemia: < 1.0 mg/dL. INCIDENCE IN CRITICAL ILLNESS: Common. ETIOLOGY: Transcellular shift: Refeeding syndrome (abrupt initiation of carbohydrate causes an insulin spike, which increases cellular phosphate uptake); exogenous administration of insulin; respiratory alkalosis. Renal loss: Diuretics; osmotic diuresis in diabetic ketoacidosis; hyperparathyroidism (primary and secondary; decreases urinary resorption of phosphate); proximal renal tubular dysfunction (Fanconi’s syndrome). Insufficient intestinal absorption: Malnutrition; phosphate-binding antacids; vitamin D deficiency; chronic diarrhea; nasogastric tube suction; malabsorption. Extreme catabolic states: Burns; trauma; sepsis. CLINICAL MANIFESTATIONS: Cardiovascular: Acute left ventricular dysfunction; reversible dilated cardiomyopathy. Hematologic: Acute hemolytic anemia; leukocyte dysfunction. Neuromuscular: Diffuse skeletal muscle weakness; rhabdomyolysis; bone demineralization; acute and chronic respiratory failure secondary to diaphragmatic weakness (impaired ventilator weaning); confusion and lethargy; gait disturbance; paresthesias. TREATMENT: It is impossible to accurately predict the exact quantity of phosphate repletion required because most phosphate is intracellular. Moderate hypophosphatemia: Oral supplementation is usually adequate (provided the gastrointestinal tract is functional). -
A Mutation in Lamin A/C Gene Previously Known to Cause Emery
ical C lin as C e f R o l e a p n o r r t u s o J Journal of Clinical Case Reports Chalissery et al., J Clin Case Rep 2016, 6:4 ISSN: 2165-7920 DOI: 10.4172/2165-7920.1000770 Case Report Open Access A Mutation in Lamin A/C Gene Previously Known to Cause Emery- Driefuss Muscular Dystrophy Causing A Phenotype of Limb Girdle Muscular Dystrophy Type 1B Albi J Chalissery1*, Tudor Munteanu1, Yvonne Langan2, Francesca Brett2 and Janice Redmond1 1Department of Neurology, St James’s Hospital, Ireland 2Department of Neurophysiology, St James’s Hospital, Ireland 3Department of Neuropathology, Beaumont Hospital, Dublin, Ireland *Corresponding author: Albi J Chalissery, Department of Neurology, St James’s Hospital, James’s Street, Dublin 8, Ireland, Tel +353 1 410 3000; E-mail: [email protected] Rec date: Feb 19, 2016; Acc date: Apr 13, 2016; Pub date: Apr 18, 2016 Copyright: © 2016 Chalissery AJ, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Abstract Mutations in the lamin protein(found in the nuclear envelope) known to cause different allelic disorders including limb girdle muscular dystrophies (LGMD) and Emery-Dreifuss muscular dystrophy (EDMD). LGMDs are a heterogeneous group of disorders with progressive proximal muscle weakness in an autosomal inheritance pattern. LGMD type 1B is a disorder secondary to a mutation in the gene encoding Lamin A/C protein in the nuclear envelope. -
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 . -
Type II Familial Synpolydactyly: Report on Two Families with an Emphasis on Variations of Expression
European Journal of Human Genetics (2011) 19, 112–114 & 2011 Macmillan Publishers Limited All rights reserved 1018-4813/11 www.nature.com/ejhg SHORT REPORT Type II familial synpolydactyly: report on two families with an emphasis on variations of expression Mohammad M Al-Qattan*,1 Type II familial synpolydactyly is rare and is known to have variable expression. However, no previous papers have attempted to review these variations. The aim of this paper was to review these variations and show several of these variable expressions in two families. The classic features of type II familial synpolydactyly are bilateral synpolydactyly of the third web spaces of the hands and bilateral synpolydactyly of the fourth web spaces of the feet. Several members of the two families reported in this paper showed the following variations: the third web spaces of the hands showing syndactyly without the polydactyly, normal feet, concurrent polydactyly of the little finger, concurrent clinodactyly of the little finger and the ‘homozygous’ phenotype. It was concluded that variable expressions of type II familial synpolydactyly are common and awareness of such variations is important to clinicians. European Journal of Human Genetics (2011) 19, 112–114; doi:10.1038/ejhg.2010.127; published online 18 August 2010 Keywords: type II familial syndactyly; inherited synpolydactyly; variations of expression INTRODUCTION CASE REPORTS Type II familial synpolydactyly is rare and it has been reported in o30 The first family families.1–12 It is characterized by bilateral synpolydactyly of the third The family had a history of synpolydactyly type II for several web spaces of the hands and bilateral synpolydactyly of the fourth web generations on the mother’s side (Table 1). -
The Genetic Basis for Skeletal Diseases
insight review articles The genetic basis for skeletal diseases Elazar Zelzer & Bjorn R. Olsen Harvard Medical School, Department of Cell Biology, 240 Longwood Avenue, Boston, Massachusetts 02115, USA (e-mail: [email protected]) We walk, run, work and play, paying little attention to our bones, their joints and their muscle connections, because the system works. Evolution has refined robust genetic mechanisms for skeletal development and growth that are able to direct the formation of a complex, yet wonderfully adaptable organ system. How is it done? Recent studies of rare genetic diseases have identified many of the critical transcription factors and signalling pathways specifying the normal development of bones, confirming the wisdom of William Harvey when he said: “nature is nowhere accustomed more openly to display her secret mysteries than in cases where she shows traces of her workings apart from the beaten path”. enetic studies of diseases that affect skeletal differentiation to cartilage cells (chondrocytes) or bone cells development and growth are providing (osteoblasts) within the condensations. Subsequent growth invaluable insights into the roles not only of during the organogenesis phase generates cartilage models individual genes, but also of entire (anlagen) of future bones (as in limb bones) or membranous developmental pathways. Different mutations bones (as in the cranial vault) (Fig. 1). The cartilage anlagen Gin the same gene may result in a range of abnormalities, are replaced by bone and marrow in a process called endo- and disease ‘families’ are frequently caused by mutations in chondral ossification. Finally, a process of growth and components of the same pathway. -
A Molecular and Genetic Analysis of Otosclerosis
A molecular and genetic analysis of otosclerosis Joanna Lauren Ziff Submitted for the degree of PhD University College London January 2014 1 Declaration I, Joanna Ziff, confirm that the work presented in this thesis is my own. Where information has been derived from other sources, I confirm that this has been indicated in the thesis. Where work has been conducted by other members of our laboratory, this has been indicated by an appropriate reference. 2 Abstract Otosclerosis is a common form of conductive hearing loss. It is characterised by abnormal bone remodelling within the otic capsule, leading to formation of sclerotic lesions of the temporal bone. Encroachment of these lesions on to the footplate of the stapes in the middle ear leads to stapes fixation and subsequent conductive hearing loss. The hereditary nature of otosclerosis has long been recognised due to its recurrence within families, but its genetic aetiology is yet to be characterised. Although many familial linkage studies and candidate gene association studies to investigate the genetic nature of otosclerosis have been performed in recent years, progress in identifying disease causing genes has been slow. This is largely due to the highly heterogeneous nature of this condition. The research presented in this thesis examines the molecular and genetic basis of otosclerosis using two next generation sequencing technologies; RNA-sequencing and Whole Exome Sequencing. RNA–sequencing has provided human stapes transcriptomes for healthy and diseased stapes, and in combination with pathway analysis has helped identify genes and molecular processes dysregulated in otosclerotic tissue. Whole Exome Sequencing has been employed to investigate rare variants that segregate with otosclerosis in affected families, and has been followed by a variant filtering strategy, which has prioritised genes found to be dysregulated during RNA-sequencing. -
Diagnosis, Treatment and Follow Up
DOI: 10.1002/jimd.12024 REVIEW International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up Ruqaiah Altassan1,2 | Romain Péanne3,4 | Jaak Jaeken3 | Rita Barone5 | Muad Bidet6 | Delphine Borgel7 | Sandra Brasil8,9 | David Cassiman10 | Anna Cechova11 | David Coman12,13 | Javier Corral14 | Joana Correia15 | María Eugenia de la Morena-Barrio16 | Pascale de Lonlay17 | Vanessa Dos Reis8 | Carlos R Ferreira18,19 | Agata Fiumara5 | Rita Francisco8,9,20 | Hudson Freeze21 | Simone Funke22 | Thatjana Gardeitchik23 | Matthijs Gert4,24 | Muriel Girad25,26 | Marisa Giros27 | Stephanie Grünewald28 | Trinidad Hernández-Caselles29 | Tomas Honzik11 | Marlen Hutter30 | Donna Krasnewich18 | Christina Lam31,32 | Joy Lee33 | Dirk Lefeber23 | Dorinda Marques-da-Silva9,20 | Antonio F Martinez34 | Hossein Moravej35 | Katrin Õunap36,37 | Carlota Pascoal8,9 | Tiffany Pascreau38 | Marc Patterson39,40,41 | Dulce Quelhas14,42 | Kimiyo Raymond43 | Peymaneh Sarkhail44 | Manuel Schiff45 | Małgorzata Seroczynska29 | Mercedes Serrano46 | Nathalie Seta47 | Jolanta Sykut-Cegielska48 | Christian Thiel30 | Federic Tort27 | Mari-Anne Vals49 | Paula Videira20 | Peter Witters50,51 | Renate Zeevaert52 | Eva Morava53,54 1Department of Medical Genetic, Montréal Children's Hospital, Montréal, Québec, Canada 2Department of Medical Genetic, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia 3Department of Human Genetics, KU Leuven, Leuven, Belgium 4LIA GLYCOLAB4CDG (International -
Advances in Understanding the Genetics of Syndromes Involving Congenital Upper Limb Anomalies
Review Article Page 1 of 10 Advances in understanding the genetics of syndromes involving congenital upper limb anomalies Liying Sun1#, Yingzhao Huang2,3,4#, Sen Zhao2,3,4, Wenyao Zhong1, Mao Lin2,3,4, Yang Guo1, Yuehan Yin1, Nan Wu2,3,4, Zhihong Wu2,3,5, Wen Tian1 1Hand Surgery Department, Beijing Jishuitan Hospital, Beijing 100035, China; 2Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing 100730, China; 3Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing 100730, China; 4Department of Orthopedic Surgery, 5Department of Central Laboratory, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China Contributions: (I) Conception and design: W Tian, N Wu, Z Wu, S Zhong; (II) Administrative support: All authors; (III) Provision of study materials or patients: All authors; (IV) Collection and assembly of data: Y Huang; (V) Data analysis and interpretation: L Sun; (VI) Manuscript writing: All authors; (VII) Final approval of manuscript: All authors. Correspondence to: Wen Tian. Hand Surgery Department, Beijing Jishuitan Hospital, Beijing 100035, China. Email: [email protected]. Abstract: Congenital upper limb anomalies (CULA) are a common birth defect and a significant portion of complicated syndromic anomalies have upper limb involvement. Mostly the mortality of babies with CULA can be attributed to associated anomalies. The cause of the majority of syndromic CULA was unknown until recently. Advances in genetic and genomic technologies have unraveled the genetic basis of many syndromes- associated CULA, while at the same time highlighting the extreme heterogeneity in CULA genetics. Discoveries regarding biological pathways and syndromic CULA provide insights into the limb development and bring a better understanding of the pathogenesis of CULA. -
Inherited Metabolic Disorders)
1 โรคพันธุกรรมเมตาบอลิก (inherited metabolic disorders) บทนํา โรคพันธุกรรมเมตาบอลิคนั้น มีผู้ประเมินไว้ว่ามีหลายร้อยโรคด้วยกัน และเป็นที่ยอมรับว่า อุบัติการของโรคกลุ่มนี้มักจะน้อยกว่าความเป็นจริง เนื่องจากการวินิจฉัยโรคทําได้ด้วยความ ยากลําบาก แพทย์ทั่วไปมักรู้จักค่อนข้างน้อย หรือให้การวินิจฉัยไม่ถูกต้อง ด้วยเหตุผลหลาย ประการ 1). การวินิจฉัยทําได้ค่อนข้างยาก เนื่องจากแต่ละโรคพบได้น้อยคือ จัดเป็น rare disease ทําให้แพทย์ไม่ค่อยนึกถึงเมื่อพบผู้ป่วย จนอาการค่อนข้างมาก หรือเมื่อได้แยกโรคที่พบได้บ่อย ออกไปแล้ว 2). การตรวจทางห้องปฎิบัติการโดยเฉพาะการตรวจเลือดและปัสสาวะเบื้องต้น มักไม่ ค่อยบอกโรคชัดเจน ยกเว้นส่งตรวจพิเศษบางอย่างเช่นการวิเคราะห์ plasma amino acid หรือ urine organic acid 3). ในทารกแรกเกิดซึ่งมีโอกาสพบโรคกลุ่มนี้ได้บ่อย มักจะมีการตอบสนองต่อ severe overwhelming illness อย่างมีขีดจํากัด หรือแสดงอาการอย่าง nonspecific เช่น poor feeding,lethargy เป็นต้น 4).กุมารแพทย์คิดถึงโรคกลุ่มนี้ในบางภาวะเท่านั้นเช่นภาวะปัญญาอ่อน หรือชักที่คุมได้ยากและมองข้ามอาการแสดงบางอย่างที่อาจเป็นเงื่อนงําสําคัญในการวินิจฉัยโรค โรคพันธุกรรมเมตาบอลิก ที่เรียกว่า inherited metabolic disorders หรือ inborn errors of metabolism (IBEM) เป็นโรคพันธุกรรมกลุ่มหนึ่งที่เกิดจากความผิดปกติของยีนเดี่ยว ที่มีความ ผิดปกติของการเรียงลําดับของเบสหรือสายDNA ก่อให้เกิดความผิดปกติของ enzymes, receptors, transport proteins, structural proteins, หรือส่วนประกอบอื่นของเซลล์แล้วส่งผลให้ เกิดความผิดปกติของขบวนการย่อยสลาย (catabolism) หรือขบวนการสังเคราะห์ (anabolism) สารอาหาร การเปลี่ยนแปลงที่ระดับ DNA ของโรคกลุ่มนี้อาจเกิดจากการกลายพันธุ์ของยีนที่สร้าง enzyme หรือยีนที่สร้างสารควบคุมหรือส่งเสริมการทํางานของ -
MICHIGAN BIRTH DEFECTS REGISTRY Cytogenetics Laboratory Reporting Instructions 2002
MICHIGAN BIRTH DEFECTS REGISTRY Cytogenetics Laboratory Reporting Instructions 2002 Michigan Department of Community Health Community Public Health Agency and Center for Health Statistics 3423 N. Martin Luther King Jr. Blvd. P. O. Box 30691 Lansing, Michigan 48909 Michigan Department of Community Health James K. Haveman, Jr., Director B-274a (March, 2002) Authority: P.A. 236 of 1988 BIRTH DEFECTS REGISTRY MICHIGAN DEPARTMENT OF COMMUNITY HEALTH BIRTH DEFECTS REGISTRY STAFF The Michigan Birth Defects Registry staff prepared this manual to provide the information needed to submit reports. The manual contains copies of the legislation mandating the Registry, the Rules for reporting birth defects, information about reportable and non reportable birth defects, and methods of reporting. Changes in the manual will be sent to each hospital contact to assist in complete and accurate reporting. We are interested in your comments about the manual and any suggestions about information you would like to receive. The Michigan Birth Defects Registry is located in the Office of the State Registrar and Division of Health Statistics. Registry staff can be reached at the following address: Michigan Birth Defects Registry 3423 N. Martin Luther King Jr. Blvd. P.O. Box 30691 Lansing MI 48909 Telephone number (517) 335-8678 FAX (517) 335-9513 FOR ASSISTANCE WITH SPECIFIC QUESTIONS PLEASE CONTACT Glenn E. Copeland (517) 335-8677 Cytogenetics Laboratory Reporting Instructions I. INTRODUCTION This manual provides detailed instructions on the proper reporting of diagnosed birth defects by cytogenetics laboratories. A report is required from cytogenetics laboratories whenever a reportable condition is diagnosed for patients under the age of two years.