Prevalence and Incidence of Rare Diseases: Bibliographic Data
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Clinical Classification of Caroli's Disease: an Analysis of 30 Patients
View metadata, citation and similar papers at core.ac.uk brought to you by CORE provided by Elsevier - Publisher Connector DOI:10.1111/hpb.12330 HPB ORIGINAL ARTICLE Clinical classification of Caroli's disease: an analysis of 30 patients Zhong-Xia Wang1,2*, Yong-Gang Li2*, Rui-Lin Wang2, Yong-Wu Li3, Zhi-Yan Li3, Li-Fu Wang2, Hui-Ying Yang2, Yun Zhu2, Yao Wang2, Yun-Feng Bai2, Ting-Ting He2, Xiao-Feng Zhang2 & Xiao-He Xiao1,2 1Department of Graduate School, 301 Hospital, 2Integrative Medical Centre, and 3Imaging Centre, 302 Hospital, Beijing, China Abstract Background: Caroli's disease (CD) is a rare congenital disorder. The early diagnosis of the disease and differentiation of types I and II are of extreme importance to patient survival. This study was designed to review and discuss observations in 30 patients with CD and to clarify the clinical characteristics of the disease. Methods: The demographic and clinical features, laboratory indicators, imaging findings and pathology results for 30 patients with CD were reviewed retrospectively. Results: Caroli's disease can occur at any age. The average age of onset in the study cohort was 24 years. Patients who presented with symptoms before the age of 40 years were more likely to develop type II CD. Approximately one-third of patients presented without positive signs at original diagnosis and most of these patients were found to have type I CD on pathology. Anaemia, leucopoenia and thrombocytopoenia were more frequent in patients with type II than type I CD. Magnetic resonance cholangiopancreatography (MRCP) and computed tomography (CT) examinations were most useful in diagnosing CD. -
Biliary Tract
2016-06-16 The role of cytology in management of diseases of hepatobiliary ducts • Diagnosis in patients with radiologically/clinically detected lesions • Screening of dysplasia/CIS/cancer in risk groups biliary tract cytology • Preoperative evaluation of the candidates for liver transplantation (Patients with cytological low-grade and high-grade Mehmet Akif Demir, MD dysplasia/adenocarcinoma are currently referred for liver transplantation Sahlgrenska University Hospital in some institutions). Gothenburg Sweden Sarajevo 18th June 2016 • Diagnosis of the benign lesions and infestations False positive findings • majority of false positive cases have a Low sensitivity but high specificity! background of primary sclerosing cholangitis. – lymphoplasmacytic sclerosing pancreatitis and cholangitis, – primary sclerosing cholangitis, – granulomatous disease, – non-specific fibrosis/inflammation – stone disease. False negative findings • Repeat brushing increases the diagnostic yield and should be performed when sampling • Poor sampling biliary strictures with a cytology brush at ERCP. • Lack of diagnostic criteria for dysplasia-carcinoma in situ • Difficulties in recognition of special tumour types – well-differentiated cholangiocarcinoma with tubular architecture • Predictors of positive yield include – gastric foveolar type cholangiocarcinoma with mucin-producing – tumour cells. older age, •Underestimating the significance of the smear background – mass size >1 cm, and – stricture length of >1 cm. •The causes of false negative cytology –sampling -
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. -
Towards Mutation-Specific Precision Medicine in Atypical Clinical
International Journal of Molecular Sciences Review Towards Mutation-Specific Precision Medicine in Atypical Clinical Phenotypes of Inherited Arrhythmia Syndromes Tadashi Nakajima * , Shuntaro Tamura, Masahiko Kurabayashi and Yoshiaki Kaneko Department of Cardiovascular Medicine, Gunma University Graduate School of Medicine, Maebashi 371-8511, Gunma, Japan; [email protected] (S.T.); [email protected] (M.K.); [email protected] (Y.K.) * Correspondence: [email protected]; Tel.: +81-27-220-8145; Fax: +81-27-220-8158 Abstract: Most causal genes for inherited arrhythmia syndromes (IASs) encode cardiac ion channel- related proteins. Genotype-phenotype studies and functional analyses of mutant genes, using heterol- ogous expression systems and animal models, have revealed the pathophysiology of IASs and enabled, in part, the establishment of causal gene-specific precision medicine. Additionally, the utilization of induced pluripotent stem cell (iPSC) technology have provided further insights into the patho- physiology of IASs and novel promising therapeutic strategies, especially in long QT syndrome. It is now known that there are atypical clinical phenotypes of IASs associated with specific mutations that have unique electrophysiological properties, which raises a possibility of mutation-specific precision medicine. In particular, patients with Brugada syndrome harboring an SCN5A R1632C mutation exhibit exercise-induced cardiac events, which may be caused by a marked activity-dependent loss of R1632C-Nav1.5 availability due to a marked delay of recovery from inactivation. This suggests that the use of isoproterenol should be avoided. Conversely, the efficacy of β-blocker needs to be examined. Patients harboring a KCND3 V392I mutation exhibit both cardiac (early repolarization syndrome and Citation: Nakajima, T.; Tamura, S.; paroxysmal atrial fibrillation) and cerebral (epilepsy) phenotypes, which may be associated with a Kurabayashi, M.; Kaneko, Y. -
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). -
Experiences of Rare Diseases: an Insight from Patients and Families
Experiences of Rare Diseases: An Insight from Patients and Families Unit 4D, Leroy House 436 Essex Road London N1 3QP tel: 02077043141 fax: 02073591447 [email protected] www.raredisease.org.uk By Lauren Limb, Stephen Nutt and Alev Sen - December 2010 Web and press design www.raredisease.org.uk WordsAndPeople.com About Rare Disease UK Rare Disease UK (RDUK) is the national alliance for people with rare diseases and all who support them. Our membership is open to all and includes patient organisations, clinicians, researchers, academics, industry and individuals with an interest in rare diseases. RDUK was established by Genetic RDUK is campaigning for a Alliance UK, the national charity strategy for integrated service of over 130 patient organisations delivery for rare diseases. This supporting all those affected by would coordinate: genetic conditions, in conjunction with other key stakeholders | Research in November 2008 following the European Commission’s | Prevention and diagnosis Communication on Rare Diseases: | Treatment and care Europe’s Challenges. | Information Subsequently RDUK successfully | Commissioning and planning campaigned for the adoption of the Council of the European into one cohesive strategy for all Union’s Recommendation on patients affected by rare disease in an action in the field of rare the UK. As well as securing better diseases. The Recommendation outcomes for patients, a strategy was adopted unanimously by each would enable the most effective Member State of the EU (including use of NHS resources. the -
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. -
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. -
2018 Etiologies by Frequencies
2018 Etiologies in Order of Frequency by Category Hereditary Syndromes and Disorders Count CHARGE Syndrome 958 Down syndrome (Trisomy 21 syndrome) 308 Usher I syndrome 252 Stickler syndrome 130 Dandy Walker syndrome 119 Cornelia de Lange 102 Goldenhar syndrome 98 Usher II syndrome 83 Wolf-Hirschhorn syndrome (Trisomy 4p) 68 Trisomy 13 (Trisomy 13-15, Patau syndrome) 60 Pierre-Robin syndrome 57 Moebius syndrome 55 Trisomy 18 (Edwards syndrome) 52 Norrie disease 38 Leber congenital amaurosis 35 Chromosome 18, Ring 18 31 Aicardi syndrome 29 Alstrom syndrome 27 Pfieffer syndrome 27 Treacher Collins syndrome 27 Waardenburg syndrome 27 Marshall syndrome 25 Refsum syndrome 21 Cri du chat syndrome (Chromosome 5p- synd) 16 Bardet-Biedl syndrome (Laurence Moon-Biedl) 15 Hurler syndrome (MPS I-H) 15 Crouzon syndrome (Craniofacial Dysotosis) 13 NF1 - Neurofibromatosis (von Recklinghausen dis) 13 Kniest Dysplasia 12 Turner syndrome 11 Usher III syndrome 10 Cockayne syndrome 9 Apert syndrome/Acrocephalosyndactyly, Type 1 8 Leigh Disease 8 Alport syndrome 6 Monosomy 10p 6 NF2 - Bilateral Acoustic Neurofibromatosis 6 Batten disease 5 Kearns-Sayre syndrome 5 Klippel-Feil sequence 5 Hereditary Syndromes and Disorders Count Prader-Willi 5 Sturge-Weber syndrome 5 Marfan syndrome 3 Hand-Schuller-Christian (Histiocytosis X) 2 Hunter Syndrome (MPS II) 2 Maroteaux-Lamy syndrome (MPS VI) 2 Morquio syndrome (MPS IV-B) 2 Optico-Cochleo-Dentate Degeneration 2 Smith-Lemli-Opitz (SLO) syndrome 2 Wildervanck syndrome 2 Herpes-Zoster (or Hunt) 1 Vogt-Koyanagi-Harada -
Opsoclonus-Myoclonus Syndrome
OMS Opsoclonus-Myoclonus Syndrome REGISTRY POWERED BY NORD 10 11 Tr io Health © 2019 Trio Health Advisory Group, Inc.; NORD - National Organization for Rare Disorders, Inc. | All rights reserved. © 2019 Trio Health Advisory Group, Inc.; NORD - National Organization for Rare Disorders, Inc. | All rights reserved. Tr io Health Meet OMS Warrior ALEXA What is OMS? OPSOCLONUS-MYOCLONUS SYNDROME General Discussion Opsoclonus-myoclonus syndrome (OMS) is an inflammatory neurological disorder, often occurring as a paraneoplastic syndrome with neurological symptoms being the first sign of an occult tumor. It is characterized by associated ocular, motor, behavioral, sleep, and language disturbances. The onset is oftentimes abrupt and can be relatively severe, with the potential to become chronic unless the appropriate diagnosis and treatment are reached in a timely manner. Signs and Symptoms The component features of OMS include the presence of rapid, seemingly random eye movements in the horizontal, vertical, and diagonal directions (opsoclonus); an unsteady gait or inability to walk or stand (ataxia); and brief, repetitive, shock-like muscle spasms or tremors within the arms, legs, or hands interfering with normal use (myoclonus). Behavioral and sleep disturbances, including extreme irritability, inconsolable crying, reduced or fragmented sleep (insomnia), and rage attacks are common. Difficulty articulating speech (dysarthria), sometimes with complete loss of speech and language, may occur. Additional symptoms, such as decreased muscle tone (hypotonia) and vomiting, have also been noted. Causes The most common cause of OMS in young children is an occult (ie, a small, often hidden) tumor. The symptoms of OMS, as a paraneoplastic syndrome, presumably stem from the immune system attacking the tumor, leading to secondary inflammatory effects on the central nervous system. -
CHARGE Syndrome
orphananesthesia Anaesthesia recommendations for CHARGE syndrome Disease name: CHARGE syndrome ICD 10: Q87.8 Synonyms: CHARGE association; Hall-Hittner syndrome Disease summary: CHARGE syndrome was initially defined as a non-random association of anomalies: - Coloboma - Heart defect - Atresia choanae (choanal atresia) - Retarded growth and development - Genital hypoplasia - Ear anomalies/deafness In 1998, an expert group defined the major (the classical 4C´s: Choanal atresia, Coloboma, Characteristic ear and Cranial nerve anomalies) and minor criteria of CHARGE syndrome [1]. In 2004, mutations in the CHD7 gene were identified as the major cause. The inheritance pattern is autosomal dominant with variable expressivity. Almost all mutations occurs de novo, but parent-to-child transmission has occasionally been reported [2]. Clinical criteria for CHARGE syndrome [1] Major criteria: • Coloboma • Choanal Atresia • Cranial nerve anomalies • Abnormalities of the inner, middle, or external ear Minor criteria: • Cardiaovascular malformations • Genital hypoplasia or delayed pubertal development • Cleft lip and/or palate • Tracheoesophageal defects • Distinctive CHARGE facies • Growth retardation • Developmental delay Occasional: • Renal anomalies: duplex system, vesicoureteric reflux • Spinal anomalies: scoliosis, osteoporosis • Hand anomalies 1 • Neck/shoulder anomalies • Immune system disorders Individuals with all four major characteristics or three major and three minor characteristics are highly likely to have CHARGE syndrome [1]. CHARGE syndrome -
Premature Loss of Permanent Teeth in Allgrove (4A) Syndrome in Two Related Families
Iran J Pediatr Case Report Mar 2010; Vol 20 (No 1), Pp:101-106 Premature Loss of Permanent Teeth in Allgrove (4A) Syndrome in Two Related Families Zahra Razavi*1, MD; MohammadMehdi Taghdiri¹, MD; Fatemeh Eghbalian¹, MD; Nooshin Bazzazi², MD 1. Department of Pediatrics, Hamadan University of Medical Sciences, IR Iran 2. Department of Ophthalmology, Hamadan University of Medical Sciences, IR Iran Received: Feb 07, 2009; Final Revision: Apr 27, 2009; Accepted: May 06, 2009 Abstract Background: Allgrove syndrome is a rare autosomal recessive condition characterized by adrenal insufficiency, achalasia, alacrima and occasionally autonomic disturbances. Mutations in the AAAS gene, on chromosome 12q13 have been implicated as a cause of this disorder. Case(s) Presentation: We present various manifestations of this syndrome in two related families each with two affected siblings in which several members had symptoms including reduced tear production, mild developmental delay, achalasia, neurological disturbances and also premature loss of permanent teeth in two of them, Conclusion: The importance of this report is dental involvement (loss of permanent teeth) in Allgrove syndrome that has not been reported in literature. Iranian Journal of Pediatrics, Volume 20 (Number 1), March 2010, Pages: 101106 Key Words: Achalasia, Adrenocortical Insufficiency, Alacrimia (Allgrove, triple‐A) Protein, Human; AAAS Protein, Human; Teeth; Allgrove Syndrome; Triple A Syndrome Protein, Human Introduction autonomic disturbances associated with Allgrove syndrome leading one author to In 1978 Allgrove and colleagues described 2 recommend the name 4A syndrome (adreno‐ unrelated pairs of siblings with achalasia and cortical insufficiency, achalasia of cardia, ACTH insensivity, three had impaired alacrima and autonomic abnormalities)[2‐4].