Orphanet Report Series Rare Diseases Collection
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Isolated Acrania in the Presence of Amniotic Band Syndrome
100 Jul 2017 Vol 10 No.3 North American Journal of Medicine and Science Case Report Isolated Acrania in the Presence of Amniotic Band Syndrome Lei Li, MD, PhD; Sandra Cerda, MD; David Kindelberger, MD; Jing Yang, MD, PhD; Carmen Sarita-Reyes, MD* Department of Pathology and Laboratory Medicine, Boston Medical Center, Boston, MA Acrania is an extremely rare congenital developmental anomaly. It is often confused with another disease entity, anencephaly. Even though these two developmental defects often occur simultaneously, they are believed to have different pathogenic mechanisms. We report the case of a 22-year-old woman with an unremarkable first trimester pregnancy who delivered a demised male fetus at 16 weeks gestation. External and microscopic examination of the fetus revealed normal development in all internal organs. The brain was covered by leptomeninges only, with an absence of skull and overlying skin. Additionally, both the fetus and placenta showed evidence of amniotic band syndrome. A diagnosis of isolated acrania in the presence of amniotic band syndrome was made. The exact etiology of acrania is not well understood. Two popular theories suggest that amniotic bands or a migration failure of the ectodermal mesenchyme may play a role in the pathogenesis. We believe that isolated acrania may represent a group of developmental anomalies which share a common ultimate outcome: absence of the neurocranium with relatively minor effects on brain development. [N A J Med Sci. 2017;10(3):100-102. DOI: 10.7156/najms.2017.1003100] Key Words: acrania, anencephaly, acalvaria, amniotic band syndrome INTRODUCTION Acrania is an extremely rare lethal embryonic developmental current smoker. -
Background Briefing Document from the Consortium of Sponsors for The
BRIEFING BOOK FOR Pediatric Advisory Committee (PAC) Prepared by Alan Rogol, M.D., Ph.D. Prepared for Consortium of Sponsors Meeting Date: April 8th, 2019 TABLE OF CONTENTS LIST OF FIGURES ................................................... ERROR! BOOKMARK NOT DEFINED. LIST OF TABLES ...........................................................................................................................4 1. INTRODUCTION AND BACKGROUND FOR THE MEETING .............................6 1.1. INDICATION AND USAGE .......................................................................................6 2. SPONSOR CONSORTIUM PARTICIPANTS ............................................................6 2.1. TIMELINE FOR SPONSOR ENGAGEMENT FOR PEDIATRIC ADVISORY COMMITTEE (PAC): ............................................................................6 3. BACKGROUND AND RATIONALE .........................................................................7 3.1. INTRODUCTION ........................................................................................................7 3.2. PHYSICAL CHANGES OF PUBERTY ......................................................................7 3.2.1. Boys ..............................................................................................................................7 3.2.2. Growth and Pubertal Development ..............................................................................8 3.3. AGE AT ONSET OF PUBERTY.................................................................................9 3.4. -
EAU Pocket Guidelines on Male Hypogonadism 2013
GUIDELINES ON MALE HYPOGONADISM G.R. Dohle (chair), S. Arver, C. Bettocchi, S. Kliesch, M. Punab, W. de Ronde Introduction Male hypogonadism is a clinical syndrome caused by andro- gen deficiency. It may adversely affect multiple organ func- tions and quality of life. Androgens play a crucial role in the development and maintenance of male reproductive and sexual functions. Low levels of circulating androgens can cause disturbances in male sexual development, resulting in congenital abnormalities of the male reproductive tract. Later in life, this may cause reduced fertility, sexual dysfunc- tion, decreased muscle formation and bone mineralisation, disturbances of fat metabolism, and cognitive dysfunction. Testosterone levels decrease as a process of ageing: signs and symptoms caused by this decline can be considered a normal part of ageing. However, low testosterone levels are also associated with several chronic diseases, and sympto- matic patients may benefit from testosterone treatment. Androgen deficiency increases with age; an annual decline in circulating testosterone of 0.4-2.0% has been reported. In middle-aged men, the incidence was found to be 6%. It is more prevalent in older men, in men with obesity, those with co-morbidities, and in men with a poor health status. Aetiology and forms Male hypogonadism can be classified in 4 forms: 1. Primary forms caused by testicular insufficiency. 2. Secondary forms caused by hypothalamic-pituitary dysfunction. 164 Male Hypogonadism 3. Late onset hypogonadism. 4. Male hypogonadism due to androgen receptor insensitivity. The main causes of these different forms of hypogonadism are highlighted in Table 1. The type of hypogonadism has to be differentiated, as this has implications for patient evaluation and treatment and enables identification of patients with associated health problems. -
Primary Liver Cancer: Epidemiological And
PRIMARY LIVER CANCER: EPIDEMIOLOGICAL AND BIOMARKER DISCOVERY STUDIES Nimzing Gwamzhi Ladep Imperial College London Department of Medicine December 2013 Thesis submitted for Doctor of Philosophy 1 THESIS ABSTRACT With previous reports indicating changes in mortality, risk factors and management of primary liver cancer (PLC), evaluation of current trends in the incidence and mortality rates was indicated. Late diagnosis has been implicated to be a major contributor to the high fatality rates of PLC. This work aimed at: studying trends of PLC by subcategories globally in general, and in England and Wales, in particular; investigating liver-related morbidities of HIV infected patients in an African setting; and discovering urinary biomarkers of hepatocellular carcinoma. The World Health Organisation (WHO) and Small Area Health Statistics Unit (SAHSU) databases were interrogated respectively, in order to achieve the first aim. The second aim was achieved through utilisation of databases of an African-based HIV treatment programme- AIDS Prevention Initiative in Nigeria (APIN), located in Jos, Nigeria. The European Union-funded Prevention of Liver Fibrosis and Cancer in Africa (PROLIFICA) case-control study in three West African countries was the platform through which urinary metabolic profiling was accomplished. Proton nuclear magnetic resonance spectroscopy (NMR) and parallel ultra-performance liquid chromatography mass spectrometry (UPLC-MS) were used for biomarker discovery studies. Mortality rates of intrahepatic bile duct carcinoma (IHBD) increased in all countries that were studied. Misclassification of hilar cholangiocarcinoma accounted for only a small increase in the rate of IHBD in England and Wales. With over 90% screening rate for viral hepatitides, the rates of hepatitis B (HBV), hepatitis C (HCV) and 2 HBV/HCV in HIV-infected patients in the APIN programme were 17.8%, 11.3% and 2.5% respectively. -
2016 IES Annual Meeting Final Programme
ROYAL ACADEMY OF MEDICINE IN IRELAND IRISH JOURNAL OF MEDICAL SCIENCE Irish Endocrine Society 40th Annual Meeting 14th and 15th October 2016 Stormont Hotel, Belfast Local Organiser: Doctor Hamish Courtney, REVISEDRoyal Victoria Hospital, PROOF Belfast Irish Journal of Medical Science Volume XXX Supplement X DOI 10.1007/s11845-016-1482-y 123 123 Journal : Large 11845 Dispatch : 17-8-2016 Pages : 57 Article No. : 1482 h LE h TYPESET MS Code : 1482 h44CP h DISK Ir J Med Sci Disclosure statement This supplement is paid for by the Irish Endocrine Society. However the meeting costs are supported by the following commercial sponsors: Abbott Amgen Astra Zeneca Besins Healthcare BMS Boehringer Ingleheim Consilient Ipsen Janssen-Cilag Kyowa Kirin Lilly Menarini Merck Serono MSD Novartis Novo Nordisk Pfizer Sanofi REVISED PROOF 123 Journal : Large 11845 Dispatch : 17-8-2016 Pages : 57 Article No. : 1482 h LE h TYPESET MS Code : 1482 h44CP h DISK Ir J Med Sci Novo Lecture Nordisk Lecture 1976 D.K. O’Donovan 1977 S. Bloom 1978 J.H.S. Robertson 1979 A.G. Cudworth 1980 D.A.D. Montgomery 1981 Peter Watkins 1982 G. Joplin 1983 D.R. London 1984 A.X. Bertagna 1985 Malcolm Nattrass Laurence Kennedy 1986 Brian Frier JB Ferriss 1987 Maurice Scanlon TJ McKenna 1988 D.A. Heath AB Atkinson 1989 J. Ward GH Tomkin 1990 R. Volpe KD Buchanan 1991 Michael Besser PPA Smyth 1992 R.V. Ragontte DH Hadden 1993 Bruce Weintraub David Powell 1994 Oscar Croffard Patrick Bell 1995 Robert Lindsay Brian Sheridan 1996 C.R.W. Edwards Rosemary Freaney 1997 Stephanie Amiel David McCance 1998 Robert Turner Randle Hayes 1999 Ian Hay Sean K Cunningham 2000 Stephen O’Rahilly Michael Cullen 2001 Andre Lacroix Daphne Owens 2002 J. -
New York Chapter American College of Physicians Annual
New York Chapter American College of Physicians Annual Scientific Meeting Poster Presentations Saturday, October 12, 2019 Westchester Hilton Hotel 699 Westchester Avenue Rye Brook, NY New York Chapter American College of Physicians Annual Scientific Meeting Medical Student Clinical Vignette 1 Medical Student Clinical Vignette Adina Amin Medical Student Jessy Epstein, Miguel Lacayo, Emmanuel Morakinyo Touro College of Osteopathic Medicine A Series of Unfortunate Events - A Rare Presentation of Thoracic Outlet Syndrome Venous thoracic outlet syndrome, formerly known as Paget-Schroetter Syndrome, is a condition characterized by spontaneous deep vein thrombosis of the upper extremity. It is a very rare syndrome resulting from anatomical abnormalities of the thoracic outlet, causing thrombosis of the deep veins draining the upper extremity. This disease is also called “effort thrombosis― because of increased association with vigorous and repetitive upper extremity activities. Symptoms include severe upper extremity pain and swelling after strenuous activity. A 31-year-old female with a history of vascular thoracic outlet syndrome, two prior thrombectomies, and right first rib resection presented with symptoms of loss of blood sensation, dull pain in the area, and sharp pain when coughing/sneezing. When the patient had her first blood clot, physical exam was notable for swelling, venous distension, and skin discoloration. The patient had her first thrombectomy in her right upper extremity a couple weeks after the first clot was discovered. Thrombolysis with TPA was initiated, and percutaneous mechanical thrombectomy with angioplasty of the axillary and subclavian veins was performed. Almost immediately after the thrombectomy, the patient had a rethrombosis which was confirmed by ultrasound. -
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. -
Acalvaria: Case Report and Review of Literature of a Rare
DOI: 10.7860/JCDR/2018/35736.11530 Case Report Acalvaria: Case Report and Review of Literature of a Rare Paediatrics Section Congenital Malformation DEEKSHA ANAND SINGLA1, ANAND SINGLA2 ABSTRACT Acalvaria, defined as absent skull bones, is an extremely rare congenital anomaly with only a handful of cases reported in literature. Hypocalvaria is its hypoplastic variant where the skull bones are incompletely formed. Due to such a rare incidence, it has been given the status of an orphan disease. In this report we present the case of a female neonate with acalvaria born in our institute. The neonate survived a short and stormy course of 12 days as she also had associated co-morbidities. The condition per se has been described as having high mortality rate. Very few living cases, less than ten have been reported till date. Keywords: Absent skull bones, Hypocalvaria, Orphan disease CASE REPORT admitted in view of bad obstetric history. An emergency cesarean The baby (female) was born to a 25-year-old female by non section had to be undertaken as she developed fetal distress. consanguineous marriage through spontaneous conception. The The index female neonate was born by caesarean section at 34 birth order of the baby was fifth and the only surviving sibling was a weeks of gestation. APGAR Score at one and five minutes was nine five-year-old female. The first baby was a male, born 10 years back each. The heart rate was 142 beats per minute, respiratory rate through normal vaginal delivery who died at 1.5 months of age, was 66 breaths per minute with mild subcostal and intercostals the cause of death was unknown to the parents. -
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]. -
Instelling Naam Expertise Centrum Cluster Van / Specifieke Aandoening Toelichting Erkenning
Instelling Naam Expertise Centrum Cluster van / Specifieke aandoening Toelichting erkenning AMC Amsterdam Lysosome Center Gaucher disease ("Sphinx") Fabry disease Niemann-Pick disease type A Niemann-Pick disease type B Niemann-Pick disease type C Mucopolysaccharidosis type 1 Mucopolysaccharidosis type 3 Mucopolysaccharidosis type 4 Lysosomal Disease Cholesteryl ester storage disease AMC Dutch Centre for Peroxisomal Peroxisome biogenesis disorder-Zellweger syndrome spectrum disorders Disorder of peroxisomal alpha- - beta- and omega-oxidation Rhizomelic chondrodysplasia punctata Non-syndromic pontocerebellar hypoplasia AMC Expertise center Vascular medicine Homozygous familial hypercholesterolemia Familial lipoprotein lipase deficiency Tangier disease AMC Centre for Genetic Metabolic Disorder of galactose metabolism Diseases Amsterdam Disorder of phenylalanine metabolism AMC Centre for Neuromuscular Diseases Neuromuscular disease Motor neuron disease; amyotrophic lateral sclerosis, primary sclerosis and progressive muscular atrophy Idiopathic inflammatory myopathy, incl dermatomyositis, polymyositis, necrotizing autoimmune myopathy and inclusion body myositis Poliomyelitis Hereditary motor and sensory neuropathy Chronic inflammatory demyelinating polyneuropathy, incl. Guillain_Barre syndrome, CIDP, MMN AMC Centre for rare thyroid diseases Congenital hypothyroidism AMC Centre for gastroenteropancreatic Gastroenteropancreatic endocrine tumor neuroendocrine tumors AMC Centre for rare hypothalamic and Rare hypothalamic or pituitary disease pituitary -
Prevalence and Incidence of Rare Diseases: Bibliographic Data
Number 1 | January 2019 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 If a range of national data is available, the average is Methodology calculated to estimate the worldwide or European prevalence or incidence. When a range of data sources is available, the most Orphanet carries out a systematic survey of literature in recent data source that meets a certain number of quality order to estimate the prevalence and incidence of rare criteria is favoured (registries, meta-analyses, diseases. This study aims to collect new data regarding population-based studies, large cohorts studies). point prevalence, birth prevalence and incidence, and to update already published data according to new For congenital diseases, the prevalence is estimated, so scientific studies or other available data. that: Prevalence = birth prevalence x (patient life This data is presented in the following reports published expectancy/general population life expectancy). biannually: When only incidence data is documented, the prevalence is estimated when possible, so that : • Prevalence, incidence or number of published cases listed by diseases (in alphabetical order); Prevalence = incidence x disease mean duration. • Diseases listed by decreasing prevalence, incidence When neither prevalence nor incidence data is available, or number of published cases; which is the case for very rare diseases, the number of cases or families documented in the medical literature is Data collection provided. A number of different sources are used : Limitations of the study • Registries (RARECARE, EUROCAT, etc) ; The prevalence and incidence data presented in this report are only estimations and cannot be considered to • National/international health institutes and agencies be absolutely correct. -
WES Gene Package Multiple Congenital Anomalie.Xlsx
Whole Exome Sequencing Gene package Multiple congenital anomalie, version 5, 1‐2‐2018 Technical information DNA was enriched using Agilent SureSelect Clinical Research Exome V2 capture and paired‐end sequenced on the Illumina platform (outsourced). The aim is to obtain 8.1 Giga base pairs per exome with a mapped fraction of 0.99. The average coverage of the exome is ~50x. Duplicate reads are excluded. Data are demultiplexed with bcl2fastq Conversion Software from Illumina. Reads are mapped to the genome using the BWA‐MEM algorithm (reference: http://bio‐bwa.sourceforge.net/). Variant detection is performed by the Genome Analysis Toolkit HaplotypeCaller (reference: http://www.broadinstitute.org/gatk/). The detected variants are filtered and annotated with Cartagenia software and classified with Alamut Visual. It is not excluded that pathogenic mutations are being missed using this technology. At this moment, there is not enough information about the sensitivity of this technique with respect to the detection of deletions and duplications of more than 5 nucleotides and of somatic mosaic mutations (all types of sequence changes). HGNC approved Phenotype description including OMIM phenotype ID(s) OMIM median depth % covered % covered % covered gene symbol gene ID >10x >20x >30x A4GALT [Blood group, P1Pk system, P(2) phenotype], 111400 607922 101 100 100 99 [Blood group, P1Pk system, p phenotype], 111400 NOR polyagglutination syndrome, 111400 AAAS Achalasia‐addisonianism‐alacrimia syndrome, 231550 605378 73 100 100 100 AAGAB Keratoderma, palmoplantar,