DOCSLIB.ORG

Prevalence and Incidence of Rare Diseases

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Prevalence and Incidence of Rare Diseases Number 1 | January 2021 Prevalence and incidence of rare diseases: Bibliographic data Prevalence, incidence or number of published cases listed by diseases (in alphabetical order) www.orpha.net www.orphadata.org is favoured (registries, meta-analyses, population-based studies, Methodology large cohorts studies). For congenital diseases, the prevalence is estimated, so that: Orphanet carries out a systematic survey of literature in order to Prevalence = birth prevalence x (patient life expectancy/general estimate the prevalence and incidence of rare diseases. This population life expectancy). study aims to collect new data regarding point prevalence, birth When only incidence data is documented, the prevalence is prevalence and incidence, and to update already published data estimated when possible, so that : according to new scientific studies or other available data. Prevalence = incidence x disease mean duration. This data is presented in the following reports published When neither prevalence nor incidence data is available, which biannually: is the case for very rare diseases, the number of cases or families documented in the medical literature is provided. • Prevalence, incidence or number of published cases listed by diseases (in alphabetical order); Limitations of the study • Diseases listed by decreasing prevalence, incidence or number of published cases; The prevalence and incidence data presented in this report are only estimations and cannot be considered to be absolutely Data collection correct. The average values presented in this report do not take into A number of different sources are used : account the heterogeneous nature of the methodologies employed by the studies considered in the literature survey. • Registries (RARECARE, EUROCAT, etc) ; The validity and exactitude of raw data sources is taken for • National/international health institutes and agencies granted and have not been verified. Thus, confusion between (Institut National de Veille Sanitaire (French Institute terms such as incidence and prevalence and/or birth prevalence of Health Surveillance); American Center of Disease is possible due to the interchangeable use of these terms in Control and Prevention, American National Cancer certain sources. Institute, European Medicines Agency, World Health It is possible that prevalence is overestimated in some cases as Organization etc) ; epidemiological studies are generally based on hospital data in regions with higher prevalence. • Medline is consulted using the following search algorithm : «Disease names» AND Data presentation Epidemiology[MeSH:NoExp] OR Incidence[Title/abstract] OR Prevalence[Title/ abstract] OR Epidemiology[Title/abstract]; Without specification, published figures are worldwide. An asterisk * indicates European data. P indicates prevalence data • Medical texts, grey literature and reports from experts; I indicates incidence data. BP indicates birth prevalence • Orphanet collaborating experts Please note that this is just a selection of Orphanet's rare Data characteristics disease epidemiological data. Currently 6077 rare diseases are annotated with prevalence or incidence information in the The data published in this document are worldwide estimations, Orphanet database. To access the complete data sets visit or European estimations if a worldwide estimation is not Orphadata (www.orphadata.org). available. The published data is raw collected data or extrapolations of raw data at worldwide or European level when no genetic founder effect is suspected as a cause of a disease. If a range of national data is available, the average is calculated to estimate the worldwide or European prevalence or incidence.When a range of data sources is available, the most recent data source that meets a certain number of quality criteria Without specification, published figures are worldwide. An asterisk * indicates European data. P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2021 - 2 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf Number Prevalence, incidence or number of of Estimated ORPHACod Disease publishe published cases listed by diseases (in prevalence/inciden e or Group of diseases d cases ce (/100,000) alphabetical order) or families 16p13.3 microduplication 27 Cases Number 96078 syndrome of Estimated 42 Cases ORPHACod Disease publishe 352629 16q24.1 microdeletion syndrome prevalence/inciden e or Group of diseases d cases ce (/100,000) 27 Cases or 261250 16q24.3 microdeletion syndrome families 17p13.3 microduplication 50 Cases 11p15.4 microduplication 1 Family 217385 300305 syndrome syndrome 170 11q22.2q22.3 microdeletion 5 Cases 97685 17q11 microdeletion syndrome Cases 444002 syndrome 11 Cases 17q11.2 microduplication 7 Cases 313884 12p12.1 microdeletion syndrome 139474 syndrome 22 Cases 103 94063 12q14 microdeletion syndrome 261265 17q12 microdeletion syndrome Cases 12q15q21.1 microdeletion 6 Cases 289513 syndrome 118 17q12 microduplication 3 Cases 261272 Cases 412035 13q12.3 microdeletion syndrome syndrome 3 Cases 17q21.31 microdeletion 1.82 P* 261120 14q11.2 microdeletion syndrome 363958 syndrome 14q11.2 microduplication 7 Cases 17q23.1q23.2 microdeletion 7 Cases 261229 261279 syndrome syndrome 3 Cases 19 Cases 261144 14q12 microdeletion syndrome 529962 17q24.2 microdeletion syndrome 14q22q23 microdeletion 5 Cases 19p13.12 microdeletion 6 Cases 264200 254346 syndrome syndrome 14q24.1q24.3 microdeletion 3 Cases 19p13.13 microdeletion 7 Cases 401935 357001 syndrome syndrome 33 Cases 19p13.3 microduplication 6 Cases 488280 14q32 duplication syndrome 447980 syndrome 12 Cases 19q13.11 microdeletion 12 Cases 314585 15q overgrowth syndrome 217346 syndrome 200 9 Cases 261183 15q11.2 microdeletion syndrome Cases 293948 1p21.3 microdeletion syndrome 1p31p32 microdeletion 5 Cases 15q11q13 microduplication 30 Cases 401986 238446 syndrome syndrome 2 Cases 246 456298 1p35.2 microdeletion syndrome 199318 15q13.3 microdeletion syndrome Cases 1q21.1 microduplication 46 Cases 250994 syndrome 9 Cases 100 261190 15q14 microdeletion syndrome 238769 1q44 microdeletion syndrome Cases 30 Cases 94065 15q24 microdeletion syndrome 2-aminoadipic 2-oxoadipic 20 Cases 16p11.2p12.2 microdeletion 8 Cases 79154 261211 aciduria syndrome 2-methylbutyryl-CoA 30 Cases 16p11.2p12.2 microduplication 7 Cases 79157 261204 dehydrogenase deficiency syndrome 3 Cases 16p12.1p12.3 triplication 3 Cases 261295 20p12.3 microdeletion syndrome 485405 syndrome 4 Cases 16p13.11 microdeletion 7.0 BP 313781 20p13 microdeletion syndrome 261236 syndrome 11 Cases 162 444051 20q11.2 microdeletion syndrome 16p13.11 microduplication 261243 Cases 21q22.11q22.12 microdeletion 14 Cases syndrome 261323 syndrome 6 Cases 500055 16p13.2 microdeletion syndrome 567 22q11.2 deletion syndrome 9.6 BP* Without specification, published figures are worldwide. An asterisk * indicates European data. P indicates prevalence data, I indicates incidence data and BP indicates birth prevalence Orphanet Report Series - Prevalence of rare diseases: Bibliographic data – January 2021 - 3 http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_diseases.pdf Number Number of of Estimated Estimated ORPHACod Disease publishe ORPHACod Disease publishe prevalence/inciden prevalence/inciden e or Group of diseases d cases e or Group of diseases d cases ce (/100,000) ce (/100,000) or or families families syndrome 37.5 BP 7 Cases 567 22q11.2 deletion syndrome 397695 3q27.3 microdeletion syndrome 2 Cases 46,XX disorder of sex 363680 2p13.2 microdeletion syndrome 2 Cases 2975 development-skeletal anomalies 2p15p16.1 microdeletion 11 Cases syndrome 261349 syndrome 46,XX ovarian dysgenesis-short 3 Cases 444048 7 Cases stature syndrome 163693 2p21 microdeletion syndrome 500 46,XX ovotesticular disorder of 2p21 microdeletion syndrome 2 Cases 2138 Cases 369881 sex development without cystinuria 18 Cases 46,XX ovotesticular disorder of 2.5 BP 228402 2q23.1 microdeletion syndrome 2138 sex development 2q23.1 microduplication 2 Cases 46,XX testicular disorder of sex 2.5 P 313947 393 syndrome development 46,XY disorder of sex 23 Cases 15 Cases 1617 2q24 microdeletion syndrome 90796 development due to isolated 2q32q33 microdeletion 25 Cases 17,20-lyase deficiency 251019 46,XY disorder of sex 2 syndrome 115 443087 development due to testicular Families 1001 2q37 microdeletion syndrome Cases 17,20-desmolase deficiency 46,XY disorder of sex 3-hydroxy-3-methylglutaryl-CoA 9 Cases development-adrenal 9 Cases 35701 168558 synthase deficiency insufficiency due to CYP11A1 13 Cases deficiency 939 3-hydroxyisobutyric aciduria 46,XY gonadal dysgenesis-motor 5 Cases 3-methylcrotonyl-CoA 2.65 BP* 168563 and sensory neuropathy 6 carboxylase deficiency syndrome 3-methylglutaconic aciduria type 20 Cases 50.0 BP* 67046 8 47,XYY syndrome 1 3-methylglutaconic aciduria type 22 Cases 1.0 BP* 445038 96263 48,XXXY syndrome 7 3-methylglutaconic aciduria type 9 Cases 1.9 BP* 505208 10 48,XXYY syndrome 8 3-methylglutaconic aciduria type 4 Cases 10 Cases 505216 99329 48,XYYY syndrome 9 3-phosphoglycerate 0.55 BP* 15 Cases 96264 49,XXXXY syndrome 79351 dehydrogenase deficiency, 2 Cases infantile/juvenile form 261534 49,XXXYY syndrome 3-phosphoserine phosphatase 8 Cases 79350 deficiency, infantile/juvenile 8 Cases 99330 49,XYYYY syndrome form 200 25 Cases 7 3C syndrome 289494 4H leukodystrophy Cases 200 2616 3M syndrome Cases 14 Cases
Load more

Recommended publications
  • 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.
    [Show full text]
  • United States Patent 19 11 Patent Number: 5,780,253 Subramanian Et Al
    III USOO5780253A United States Patent 19 11 Patent Number: 5,780,253 Subramanian et al. (45) Date of Patent: Jul. 14, 1998 54 SCREENING METHOD FOR DETECTION OF 4.433.999 2/1984 Hyzak ....................................... 71.03 HERBCDES 4.6–552 2/1987 Anoti et al. if O3. 4,802,912 2/1989 Baker ........................................ 7/103 Inventors: Wenkiteswaran Subramanian Danville: Anne G. Toschi. Burlingame. OTHERTHER PPUBLICATION CATIONS both of Calif. Heim et al. Pesticide Biochem & Physiol; vol. 53, pp. 138-145 (1995). 73) Assignee: Sandoz Ltd., Basel. Switzerland Hatch. MD.: Phytochem. vol. 6... pp. 115 to 119, (1967). Haworth et al. J. Agric. Food Chem, vol. 38, pp. 1271-1273. 21 Appl. No.:752.990 1990. Nishimura et al: Phytochem: vol. 34, pp. 613-615. (1993). 22 Filed: Nov. 21, 1996 Primary Examiner-Louise N. Leary Related U.S. Application Data Attorney, Agent, or Firm-Lynn Marcus-Wyner: Michael P. Morris 63 Continuation of Ser. No. 434.826, May 4, 1995, abandoned. 6 57 ABSTRACT 51 Int. Cl. ............................... C12Q 1/48: C12Q 1/32: C12Q 1/37; C12O 1/00 This invention relates to novel screening methods for iden 52 U.S. Cl. ................................. 435/15:435/18: 435/26: tifying compounds that specifically inhibit a biosynthetic 435/23: 435/4, 536/23.6:536/23.2:536/24.3 pathway in plants. Enzymes which are specifically affected 536/26.11:536/26.12:536/26.13 by the novel screening method include plant purine biosyn 58 Field of Search .................................. 435/15, 8, 26, thetic pathway enzymes and particularly the enzymes 435/23 4: 536/23.6, 23.2, 24.3, 26.1, involved in the conversion of inosine monophosphate to 26.12, 26.13 adenosine monophosphate and inosine monophosphate to guanosine monophosphate.
    [Show full text]
  • 35 Disorders of Purine and Pyrimidine Metabolism
    35 Disorders of Purine and Pyrimidine Metabolism Georges van den Berghe, M.- Françoise Vincent, Sandrine Marie 35.1 Inborn Errors of Purine Metabolism – 435 35.1.1 Phosphoribosyl Pyrophosphate Synthetase Superactivity – 435 35.1.2 Adenylosuccinase Deficiency – 436 35.1.3 AICA-Ribosiduria – 437 35.1.4 Muscle AMP Deaminase Deficiency – 437 35.1.5 Adenosine Deaminase Deficiency – 438 35.1.6 Adenosine Deaminase Superactivity – 439 35.1.7 Purine Nucleoside Phosphorylase Deficiency – 440 35.1.8 Xanthine Oxidase Deficiency – 440 35.1.9 Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency – 441 35.1.10 Adenine Phosphoribosyltransferase Deficiency – 442 35.1.11 Deoxyguanosine Kinase Deficiency – 442 35.2 Inborn Errors of Pyrimidine Metabolism – 445 35.2.1 UMP Synthase Deficiency (Hereditary Orotic Aciduria) – 445 35.2.2 Dihydropyrimidine Dehydrogenase Deficiency – 445 35.2.3 Dihydropyrimidinase Deficiency – 446 35.2.4 Ureidopropionase Deficiency – 446 35.2.5 Pyrimidine 5’-Nucleotidase Deficiency – 446 35.2.6 Cytosolic 5’-Nucleotidase Superactivity – 447 35.2.7 Thymidine Phosphorylase Deficiency – 447 35.2.8 Thymidine Kinase Deficiency – 447 References – 447 434 Chapter 35 · Disorders of Purine and Pyrimidine Metabolism Purine Metabolism Purine nucleotides are essential cellular constituents 4 The catabolic pathway starts from GMP, IMP and which intervene in energy transfer, metabolic regula- AMP, and produces uric acid, a poorly soluble tion, and synthesis of DNA and RNA. Purine metabo- compound, which tends to crystallize once its lism can be divided into three pathways: plasma concentration surpasses 6.5–7 mg/dl (0.38– 4 The biosynthetic pathway, often termed de novo, 0.47 mmol/l). starts with the formation of phosphoribosyl pyro- 4 The salvage pathway utilizes the purine bases, gua- phosphate (PRPP) and leads to the synthesis of nine, hypoxanthine and adenine, which are pro- inosine monophosphate (IMP).
    [Show full text]
  • The Counsyl Foresight™ Carrier Screen
    The Counsyl Foresight™ Carrier Screen 180 Kimball Way | South San Francisco, CA 94080 www.counsyl.com | [email protected] | (888) COUNSYL The Counsyl Foresight Carrier Screen - Disease Reference Book 11-beta-hydroxylase-deficient Congenital Adrenal Hyperplasia .................................................................................................................................................................................... 8 21-hydroxylase-deficient Congenital Adrenal Hyperplasia ...........................................................................................................................................................................................10 6-pyruvoyl-tetrahydropterin Synthase Deficiency ..........................................................................................................................................................................................................12 ABCC8-related Hyperinsulinism........................................................................................................................................................................................................................................ 14 Adenosine Deaminase Deficiency .................................................................................................................................................................................................................................... 16 Alpha Thalassemia.............................................................................................................................................................................................................................................................
    [Show full text]
  • Journal of Medical Genetics April 1992 Vol 29 No4 Contents Original Articles
    Journal of Medical Genetics April 1992 Vol 29 No4 Contents Original articles Beckwith-Wiedemann syndrome: a demonstration of the mechanisms responsible for the excess J Med Genet: first published as on 1 April 1992. Downloaded from of transmitting females C Moutou, C Junien, / Henry, C Bonai-Pellig 217 Evidence for paternal imprinting in familial Beckwith-Wiedemann syndrome D Viljoen, R Ramesar 221 Sex reversal in a child with a 46,X,Yp+ karyotype: support for the existence of a gene(s), located in distal Xp, involved in testis formation T Ogata, J R Hawkins, A Taylor, N Matsuo, J-1 Hata, P N Goodfellow 226 Highly polymorphic Xbol RFLPs of the human 21 -hydroxylase genes among Chinese L Chen, X Pan, Y Shen, Z Chen, Y Zhang, R Chen 231 Screening of microdeletions of chromosome 20 in patients with Alagille syndrome C Desmaze, J F Deleuze, A M Dutrillaux, G Thomas, M Hadchouel, A Aurias 233 Confirmation of genetic linkage between atopic IgE responses and chromosome 1 1 ql 3 R P Young, P A Sharp, J R Lynch, J A Faux, G M Lathrop, W 0 C M Cookson, J M Hopkini 236 Age at onset and life table risks in genetic counselling for Huntington's disease P S Harper, R G Newcombe 239 Genetic and clinical studies in autosomal dominant polycystic kidney disease type 1 (ADPKD1) E Coto, S Aguado, J Alvarez, M J Menendez-DIas, C Lopez-Larrea 243 Short communication Evidence for linkage disequilibrium between D16S94 and the adult onset polycystic kidney disease (PKD1) gene S E Pound, A D Carothers, P M Pignatelli, A M Macnicol, M L Watson, A F Wright 247 Technical note A strategy for the rapid isolation of new PCR based DNA polymorphisms P R Hoban, M F Santibanez-Koref, J Heighway 249 http://jmg.bmj.com/ Case reports Campomelic dysplasia associated with a de novo 2q;1 7q reciprocal translocation I D Young, J M Zuccollo, E L Maltby, N J Broderick 251 A complex chromosome rearrangement with 10 breakpoints: tentative assignment of the locus for Williams syndrome to 4q33-q35.1 R Tupler, P Maraschio, A Gerardo, R Mainieri G Lanzi L Tiepolo 253 on September 26, 2021 by guest.
    [Show full text]
  • Studies on the Absorptive Defect for Triglyceride in Abetalipoproteinemia * P
    Jownal of Clinical Investigation Vol. 46, No. 1, 1967 Studies on the Absorptive Defect for Triglyceride in Abetalipoproteinemia * P. 0. WAYS,t C. M. PARMENTIER, H. J. KAYDEN,4 J. W. JONES,§ D. R. SAUNDERS,|| AND C. E. RUBIN 1J (From the Department of Medicine, University of Washington School of Medicine, Seattle, Wash., and the Department of Medicine, New York University School of Medicine, New York, N. Y.) Summary. The nature of the gastrointestinal absorptive defect for triglycer- ide in three subjects with abetalipoproteinemia has been investigated by studying peroral biopsies of the gastrointestinal mucosa. The following con- clusions were reached. 1) In confirmation of other studies, the abnormal vacuoles within the du- odenal absorptive cells of these individuals were lipophilic. 2) On chemical analysis there was significantly more mucosal lipid than found in normal fasting specimens, and almost the entire increase was due to triglyceride. 3) This excess mucosal lipid was reduced by a low fat diet, but even after 34 days on such a diet there was still an excess of lipophilic material near the villus tip and increased quantities of total lipid and triglyceride when com- pared with material from normal subjects similarly treated. 4) Although there are demonstrable qualitative changes in mucosal and plasma lipids after an acute fat load, they are not quantitatively as great as in normal individuals. Fat balance studies and the qualitative changes in plasma and tissue lipids that do occur after more extended periods on different types of dietary fat do indicate that a considerable percentage of the dietary fat is assimilated.
    [Show full text]
  • Peripheral Neuropathy in Complex Inherited Diseases: an Approach To
    PERIPHERAL NEUROPATHY IN COMPLEX INHERITED DISEASES: AN APPROACH TO DIAGNOSIS Rossor AM1*, Carr AS1*, Devine H1, Chandrashekar H2, Pelayo-Negro AL1, Pareyson D3, Shy ME4, Scherer SS5, Reilly MM1. 1. MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, WC1N 3BG, UK. 2. Lysholm Department of Neuroradiology, National Hospital for Neurology and Neurosurgery, London, WC1N 3BG, UK. 3. Unit of Neurological Rare Diseases of Adulthood, Carlo Besta Neurological Institute IRCCS Foundation, Milan, Italy. 4. Department of Neurology, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, USA 5. Department of Neurology, University of Pennsylvania, Philadelphia, PA 19014, USA. * These authors contributed equally to this work Corresponding author: Mary M Reilly Address: MRC Centre for Neuromuscular Diseases, 8-11 Queen Square, London, WC1N 3BG, UK. Email: [email protected] Telephone: 0044 (0) 203 456 7890 Word count: 4825 ABSTRACT Peripheral neuropathy is a common finding in patients with complex inherited neurological diseases and may be subclinical or a major component of the phenotype. This review aims to provide a clinical approach to the diagnosis of this complex group of patients by addressing key questions including the predominant neurological syndrome associated with the neuropathy e.g. spasticity, the type of neuropathy, and the other neurological and non- neurological features of the syndrome. Priority is given to the diagnosis of treatable conditions. Using this approach, we associated neuropathy with one of three major syndromic categories - 1) ataxia, 2) spasticity, and 3) global neurodevelopmental impairment. Syndromes that do not fall easily into one of these three categories can be grouped according to the predominant system involved in addition to the neuropathy e.g.
    [Show full text]
  • Compensation for Occupational Skin Diseases
    ORIGINAL ARTICLE http://dx.doi.org/10.3346/jkms.2014.29.S.S52 • J Korean Med Sci 2014; 29: S52-58 Compensation for Occupational Skin Diseases Han-Soo Song1 and Hyun-chul Ryou2 The Korean list of occupational skin diseases was amended in July 2013. The past list was constructed according to the causative agent and the target organ, and the items of that 1 Department of Occupational and Environmental list had not been reviewed for a long period. The revised list was reconstructed to include Medicine, College of Medicine, Chosun University, Gwangju; 2Teo Center of Occupational and diseases classified by the International Classification of Diseases (10th version). Therefore, Environmental Medicine, Changwon, Korea the items of compensable occupational skin diseases in the amended list in Korea comprise contact dermatitis; chemical burns; Stevens-Johnson syndrome; tar-related skin diseases; Received: 19 December 2013 infectious skin diseases; skin injury-induced cellulitis; and skin conditions resulting from Accepted: 2 May 2014 physical factors such as heat, cold, sun exposure, and ionized radiation. This list will be Address for Correspondence: more practical and convenient for physicians and workers because it follows a disease- Han-Soo Song, MD based approach. The revised list is in accordance with the International Labor Organization Department of Occupational and Environmental Medicine, Chosun University Hospital, 365 Pilmun-daero, Dong-gu, list and is refined according to Korean worker’s compensation and the actual occurrence of Gwangju 501-717, Korea occupational skin diseases. However, this revised list does not perfectly reflect the actual Tel: +82.62-220-3689, Fax: +82.62-443-5035 E-mail: [email protected] status of skin diseases because of the few cases of occupational skin diseases, incomplete statistics of skin diseases, and insufficient scientific evidence.
    [Show full text]
  • 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,
    [Show full text]
  • Disease Reference Book
    The Counsyl Foresight™ Carrier Screen 180 Kimball Way | South San Francisco, CA 94080 www.counsyl.com | [email protected] | (888) COUNSYL The Counsyl Foresight Carrier Screen - Disease Reference Book 11-beta-hydroxylase-deficient Congenital Adrenal Hyperplasia .................................................................................................................................................................................... 8 21-hydroxylase-deficient Congenital Adrenal Hyperplasia ...........................................................................................................................................................................................10 6-pyruvoyl-tetrahydropterin Synthase Deficiency ..........................................................................................................................................................................................................12 ABCC8-related Hyperinsulinism........................................................................................................................................................................................................................................ 14 Adenosine Deaminase Deficiency .................................................................................................................................................................................................................................... 16 Alpha Thalassemia.............................................................................................................................................................................................................................................................
    [Show full text]
  • Megalencephaly and Macrocephaly
    277 Megalencephaly and Macrocephaly KellenD.Winden,MD,PhD1 Christopher J. Yuskaitis, MD, PhD1 Annapurna Poduri, MD, MPH2 1 Department of Neurology, Boston Children’s Hospital, Boston, Address for correspondence Annapurna Poduri, Epilepsy Genetics Massachusetts Program, Division of Epilepsy and Clinical Electrophysiology, 2 Epilepsy Genetics Program, Division of Epilepsy and Clinical Department of Neurology, Fegan 9, Boston Children’s Hospital, 300 Electrophysiology, Department of Neurology, Boston Children’s Longwood Avenue, Boston, MA 02115 Hospital, Boston, Massachusetts (e-mail: [email protected]). Semin Neurol 2015;35:277–287. Abstract Megalencephaly is a developmental disorder characterized by brain overgrowth secondary to increased size and/or numbers of neurons and glia. These disorders can be divided into metabolic and developmental categories based on their molecular etiologies. Metabolic megalencephalies are mostly caused by genetic defects in cellular metabolism, whereas developmental megalencephalies have recently been shown to be caused by alterations in signaling pathways that regulate neuronal replication, growth, and migration. These disorders often lead to epilepsy, developmental disabilities, and Keywords behavioral problems; specific disorders have associations with overgrowth or abnor- ► megalencephaly malities in other tissues. The molecular underpinnings of many of these disorders are ► hemimegalencephaly now understood, providing insight into how dysregulation of critical pathways leads to ►
    [Show full text]
  • Bovine Milk Lipoprotein Lipase Transfers Tocopherol to Human Fibroblasts During Triglyceride Hydrolysis in Vitro Maret G
    Bovine Milk Lipoprotein Lipase Transfers Tocopherol to Human Fibroblasts during Triglyceride Hydrolysis In Vitro Maret G. Traber, Thomas Olivecrona, and Herbert J. Kayden Department ofMedicine, New York University School ofMedicine, New York 10016; University of Umea, Umea, Sweden Abstract vitamin E, have minimal or absent neurological abnormalities, but those who have not been supplemented have a progressive Lipoprotein lipase appears to function as the mechanism by which dietary vitamin E (tocopherol) is transferred from chy- degeneration of the peripheral nervous system resulting in ataxia and characteristic pathologic changes in the central lomicrons to tissues. In patients with lipoprotein lipase defi- nervous system (5). These neuropathologic changes have been more than 85% of both the and ciency, circulating triglyceride observed in patients with cholestatic liver disease in whom the tocopherol is contained in the chylomicron fraction. The studies in low to absent levels of bile salts in the intestine results in an presented here show that the vitro addition of bovine milk inability to absorb vitamin E (3). Oral supplementation with to in the of lipoprotein lipase (lipase) chylomicrons presence pharmacologic amounts of the vitamin (6), or or fibroblasts bovine albumin pagenteral human erythrocytes (and serum administration of the vitamin (when there is a complete resulted in the hydrolysis of triglyceride and the [BSAJ) the absence of intestinal bile) (7) results in the prevention of transfer of both acids and to the in the fatty tocopherol cells; further of the nervous system. The studies in absence of no in cellular was deterioration lipase, increase tocopherol these two groups ofpatients have demonstrated the importance The incubation was to include detectable.
    [Show full text]