Somatic Overgrowth & Vascular Malformation
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Segmental Overvekst Og Vaskulærmalformasjoner V02
2/1/2021 Segmental overvekst og vaskulærmalformasjoner v02 Avdeling for medisinsk genetikk Segmental overvekst og vaskulærmalformasjoner Genpanel, versjon v02 * Enkelte genomiske regioner har lav eller ingen sekvensdekning ved eksomsekvensering. Dette skyldes at de har stor likhet med andre områder i genomet, slik at spesifikk gjenkjennelse av disse områdene og påvisning av varianter i disse områdene, blir vanskelig og upålitelig. Disse genetiske regionene har vi identifisert ved å benytte USCS segmental duplication hvor områder større enn 1 kb og ≥90% likhet med andre regioner i genomet, gjenkjennes (https://genome.ucsc.edu). Vi gjør oppmerksom på at ved identifiseringav ekson oppstrøms for startkodon kan eksonnummereringen endres uten at transkript ID endres. Avdelingens websider har en full oversikt over områder som er affisert av segmentale duplikasjoner. ** Transkriptets kodende ekson. Ekson Gen Gen affisert (HGNC (HGNC Transkript Ekson** Fenotype av symbol) ID) segdup* ACVRL1 175 NM_000020.3 2-10 Telangiectasia, hereditary hemorrhagic, type 2 OMIM ADAMTS3 219 NM_014243.3 1-22 Hennekam lymphangiectasia- lymphedema syndrome 3 OMIM AKT1 391 NM_005163.2 2-14 Cowden syndrome 6 OMIM Proteus syndrome, somatic OMIM AKT2 392 NM_001626.6 2-14 Diabetes mellitus, type II OMIM Hypoinsulinemic hypoglycemia with hemihypertrophy OMIM AKT3 393 NM_005465.7 2-14 Megalencephaly-polymicrogyria- polydactyly-hydrocephalus syndrome 2 OMIM file:///data/SegOv_v02-web.html 1/7 2/1/2021 Segmental overvekst og vaskulærmalformasjoner v02 Ekson Gen Gen affisert (HGNC (HGNC -
42Th. Brazilian Congress of Oral Medicine and Oral Patology Manaus, Amazonas, Brazil
42TH. BRAZILIAN CONGRESS OF ORAL MEDICINE AND ORAL PATOLOGY MANAUS, AMAZONAS, BRAZIL. JULY 4-8, 2016 538 ABSTRACTS OP – ORAL PRESENTATION 043 CPP – CLINICAL POSTER PRESENTATION 344 RESEARCH POSTER 151 OP01 - BROWN TUMOR OF THE JAW MIMICKING MALIGNANT NEOPLASM. Paulo de Camargo MORAES. Rubens GONÇALVESTEIXEIRA. Luis Alexandre THOMAZ. Claudio Roberto Pacheco JODAS. Victor Angelo MONTALLI. Marcelo SPERANDIO. Amy Louise BROWN. Brown tumors are an unusual manifestation of primary hyperparathyroidism, a disease characterized by excessive secretion of parathyroid hormone (PTH). With the exception of bone loss, skeletal manifestations are rare, occurring in less than 2% of patients. The presence of multiple lesions may imitate a malignant neoplasm, hence posing a real diagnostic challenge. We describe a 50-year-old wheelchair-bound Brazilian woman, presenting multiple expansive lytic lesions. The clinical differential diagnosis included metastatic disease and multiple myeloma. Intra-oral examination revealed a large ulcerating proliferative brown mass on the left side of the mandible, with significant bone destruction. Serum calcium, alkaline phosphatase and PTH (was seven times above the upper limit of normal). A combination of physical examination, and radiological and histopathologyc investigations were performed. A parathyroid nodule was detected and surgically excised. Two months later the patient no longer wheelchair-bound. In addition, after 15 months of follow-up the brown tumour has significantly decreased. OP02 - LEISHMANIOSE IN ORAL CAVITY - A CASE CLINICAL REPORT. Carlos Deyver de Souza QUEIROZ. Helio Massaiochi TANIMOTO. Raphael HAIKEL JUNIOR. Edmundo Carvalho MAUAD. André Lopes CARVALHO. José Humberto FRAGNANI. Adhemar LONGATTO FILHO. Leishmaniasis is an infectious disease A, non-contagious, caused by different species of Leishmania protozoa, which can affect the skin and / or mucous membranes. -
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. -
Phenotypic and Genotypic Characterisation of Noonan-Like
1of5 ELECTRONIC LETTER J Med Genet: first published as 10.1136/jmg.2004.024091 on 2 February 2005. Downloaded from Phenotypic and genotypic characterisation of Noonan-like/ multiple giant cell lesion syndrome J S Lee, M Tartaglia, B D Gelb, K Fridrich, S Sachs, C A Stratakis, M Muenke, P G Robey, M T Collins, A Slavotinek ............................................................................................................................... J Med Genet 2005;42:e11 (http://www.jmedgenet.com/cgi/content/full/42/2/e11). doi: 10.1136/jmg.2004.024091 oonan-like/multiple giant cell lesion syndrome (NL/ MGCLS; OMIM 163955) is a rare condition1–3 with Key points Nphenotypic overlap with Noonan’s syndrome (OMIM 163950) and cherubism (OMIM 118400) (table 1). N Noonan-like/multiple giant cell lesion syndrome (NL/ Recently, missense mutations in the PTPN11 gene on MGCLS) has clinical similarities with Noonan’s syn- chromosome 12q24.1 have been identified as the cause of drome and cherubism. It is unclear whether it is a Noonan’s syndrome in 45% of familial and sporadic cases,45 distinct entity or a variant of Noonan’s syndrome or indicating genetic heterogeneity within the syndrome. In the cherubism. 5 study by Tartaglia et al, there was a family in which three N Three unrelated patients with NL/MGCLS were char- members had features of Noonan’s syndrome; two of these acterised, two of whom were found to have mutations had incidental mandibular giant cell lesions.3 All three in the PTPN11 gene, the mutation found in 45% of members were found to have a PTPN11 mutation known to patients with Noonan’s syndrome. -
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 ► -
Cardiomyopathy Precision Panel Overview Indications
Cardiomyopathy Precision Panel Overview Cardiomyopathies are a group of conditions with a strong genetic background that structurally hinder the heart to pump out blood to the rest of the body due to weakness in the heart muscles. These diseases affect individuals of all ages and can lead to heart failure and sudden cardiac death. If there is a family history of cardiomyopathy it is strongly recommended to undergo genetic testing to be aware of the family risk, personal risk, and treatment options. Most types of cardiomyopathies are inherited in a dominant manner, which means that one altered copy of the gene is enough for the disease to present in an individual. The symptoms of cardiomyopathy are variable, and these diseases can present in different ways. There are 5 types of cardiomyopathies, the most common being hypertrophic cardiomyopathy: 1. Hypertrophic cardiomyopathy (HCM) 2. Dilated cardiomyopathy (DCM) 3. Restrictive cardiomyopathy (RCM) 4. Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) 5. Isolated Left Ventricular Non-Compaction Cardiomyopathy (LVNC). The Igenomix Cardiomyopathy Precision Panel serves as a diagnostic and tool ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes. Indications The Igenomix Cardiomyopathy Precision Panel is indicated in those cases where there is a clinical suspicion of cardiomyopathy with or without the following manifestations: - Shortness of breath - Fatigue - Arrythmia (abnormal heart rhythm) - Family history of arrhythmia - Abnormal scans - Ventricular tachycardia - Ventricular fibrillation - Chest Pain - Dizziness - Sudden cardiac death in the family 1 Clinical Utility The clinical utility of this panel is: - The genetic and molecular diagnosis for an accurate clinical diagnosis of a patient with personal or family history of cardiomyopathy, channelopathy or sudden cardiac death. -
Level Estimates of Maternal Smoking and Nicotine Replacement Therapy During Pregnancy
Using primary care data to assess population- level estimates of maternal smoking and nicotine replacement therapy during pregnancy Nafeesa Nooruddin Dhalwani BSc MSc Thesis submitted to the University of Nottingham for the degree of Doctor of Philosophy November 2014 ABSTRACT Background: Smoking in pregnancy is the most significant preventable cause of poor health outcomes for women and their babies and, therefore, is a major public health concern. In the UK there is a wide range of interventions and support for pregnant women who want to quit. One of these is nicotine replacement therapy (NRT) which has been widely available for retail purchase and prescribing to pregnant women since 2005. However, measures of NRT prescribing in pregnant women are scarce. These measures are vital to assess its usefulness in smoking cessation during pregnancy at a population level. Furthermore, evidence of NRT safety in pregnancy for the mother and child’s health so far is nebulous, with existing studies being small or using retrospectively reported exposures. Aims and Objectives: The main aim of this work was to assess population- level estimates of maternal smoking and NRT prescribing in pregnancy and the safety of NRT for both the mother and the child in the UK. Currently, the only population-level data on UK maternal smoking are from repeated cross-sectional surveys or routinely collected maternity data during pregnancy or at delivery. These obtain information at one point in time, and there are no population-level data on NRT use available. As a novel approach, therefore, this thesis used the routinely collected primary care data that are currently available for approximately 6% of the UK population and provide longitudinal/prospectively recorded information throughout pregnancy. -
Epidermal Nevus Syndrome): a Case Report Arun Joshi, MD,1 Sudha Agrawal, MD,1 Kuldeep Singh, MD,2 Shatrughan Prasad Sah, MD3 Arun Agarwalla, MD,1 Sanjay K
CASE REPORT Schimmelpenning syndrome (Epidermal Nevus Syndrome): A case report Arun Joshi, MD,1 Sudha Agrawal, MD,1 Kuldeep Singh, MD,2 Shatrughan Prasad Sah, MD3 Arun Agarwalla, MD,1 Sanjay K. D. Thakur, MD,4 R. K. Rauniar, MD5 1Department of Dermatology and Venereology 2Department of Pediatrics 3Department of Pathology 4Department of Ophthalmology 5Department of Radiology B. P. Koirala Institute of Health Sciences, Dharan, Nepal ABSTRACT Epidermal nevus syndrome (ENS) describes occurrence of a nevus sebaceous or an epidermal nevus with other develop- mental anomalies of eye, skeletal, central nervous, cardiovascular and urogenital systems. We report here a neonate with an extensive nevus sebaceous (NS), congenital giant melanocytic nevus (CGMN), multiple small and large melanocytic nevi, central nervous system and eye abnormalities, and seizures fitting into this rare neurocutaneus disorder and briefly review the literature and current concepts. CASE REPORT in the skin was present on the surface of this black A 2-day-old male baby born to a 30-year-old plaque in the interscapular region. In addition primigravida at full term by forceps delivery was there were numerous black, indurated, papules, referred by the pediatric department for dermato- nodules and plaques (1.0-8.0cm) scattered all over logic consultation for the multiple extensive skin the limbs, abdomen, face and neck (Fig. 2). lesions the neonate had since birth. There was no A single, linear, band shaped, yellow plaque with history of any drug intake except haematinics and velvety surface was present on the face and scalp calcium, or exposure to radiation to the mother extending from the lower lip in the midline to the during the pregnancy. -
Mtor Mutations in Smith-Kingsmore Syndrome: Four Additional Patients and a Review
Received: 4 July 2017 Revised: 31 August 2017 Accepted: 5 September 2017 DOI: 10.1111/cge.13135 ORIGINAL ARTICLE mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review G. Gordo1,2,3 | J. Tenorio1,2 | P. Arias1,2 | F. Santos-Simarro1,4 | S. García-Miñaur1,4 | J.C. Moreno1,2 | J. Nevado1,5 | E. Vallespin1,5 | L. Rodriguez-Laguna1,3 | R. de Mena1,5 | I. Dapia1,2 | M. Palomares-Bralo1,5 | A. del Pozo1,6 | K. Ibañez1,6 | J.C. Silla1,6 | E. Barroso1,2 | V.L. Ruiz-Pérez1,7 | V. Martinez-Glez1,3,4 | P. Lapunzina1,2,4 1Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain 2Molecular Endocrinology Section, Overgrowth Syndromes Laboratory, Instituto de Genética Médica y Molecular (INGEMM), IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), Madrid, Spain 3Vascular Malformations Section, Instituto de Genética Médica y Molecular (INGEMM), IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), Madrid, Spain 4Clinical Genetics Section, Instituto de Genética Médica y Molecular (INGEMM), IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), Madrid, Spain 5Structural and Functional Genomics Section, Instituto de Genética Médica y Molecular (INGEMM), IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), Madrid, Spain 6Bioinformatics Section, Instituto de Genética Médica y Molecular (INGEMM), IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), Madrid, Spain 7IIB, Instituto de Investigación “Alberto Sols”, Universidad Autónoma de Madrid (UAM), Madrid, Spain Correspondence Smith-Kingsmore syndrome (SKS) OMIM #616638, also known as MINDS syndrome (ORPHA Pablo Lapunzina, MD, PhD, Instituto de Genética Médica y Molecular (INGEMM), 457485), is a rare autosomal dominant disorder reported so far in 23 patients. -
MECHANISMS in ENDOCRINOLOGY: Novel Genetic Causes of Short Stature
J M Wit and others Genetics of short stature 174:4 R145–R173 Review MECHANISMS IN ENDOCRINOLOGY Novel genetic causes of short stature 1 1 2 2 Jan M Wit , Wilma Oostdijk , Monique Losekoot , Hermine A van Duyvenvoorde , Correspondence Claudia A L Ruivenkamp2 and Sarina G Kant2 should be addressed to J M Wit Departments of 1Paediatrics and 2Clinical Genetics, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, Email The Netherlands [email protected] Abstract The fast technological development, particularly single nucleotide polymorphism array, array-comparative genomic hybridization, and whole exome sequencing, has led to the discovery of many novel genetic causes of growth failure. In this review we discuss a selection of these, according to a diagnostic classification centred on the epiphyseal growth plate. We successively discuss disorders in hormone signalling, paracrine factors, matrix molecules, intracellular pathways, and fundamental cellular processes, followed by chromosomal aberrations including copy number variants (CNVs) and imprinting disorders associated with short stature. Many novel causes of GH deficiency (GHD) as part of combined pituitary hormone deficiency have been uncovered. The most frequent genetic causes of isolated GHD are GH1 and GHRHR defects, but several novel causes have recently been found, such as GHSR, RNPC3, and IFT172 mutations. Besides well-defined causes of GH insensitivity (GHR, STAT5B, IGFALS, IGF1 defects), disorders of NFkB signalling, STAT3 and IGF2 have recently been discovered. Heterozygous IGF1R defects are a relatively frequent cause of prenatal and postnatal growth retardation. TRHA mutations cause a syndromic form of short stature with elevated T3/T4 ratio. Disorders of signalling of various paracrine factors (FGFs, BMPs, WNTs, PTHrP/IHH, and CNP/NPR2) or genetic defects affecting cartilage extracellular matrix usually cause disproportionate short stature. -
Orphanet Report Series Rare Diseases Collection
Marche des Maladies Rares – Alliance Maladies Rares Orphanet Report Series Rare Diseases collection DecemberOctober 2013 2009 List of rare diseases and synonyms Listed in alphabetical order www.orpha.net 20102206 Rare diseases listed in alphabetical order ORPHA ORPHA ORPHA Disease name Disease name Disease name Number Number Number 289157 1-alpha-hydroxylase deficiency 309127 3-hydroxyacyl-CoA dehydrogenase 228384 5q14.3 microdeletion syndrome deficiency 293948 1p21.3 microdeletion syndrome 314655 5q31.3 microdeletion syndrome 939 3-hydroxyisobutyric aciduria 1606 1p36 deletion syndrome 228415 5q35 microduplication syndrome 2616 3M syndrome 250989 1q21.1 microdeletion syndrome 96125 6p subtelomeric deletion syndrome 2616 3-M syndrome 250994 1q21.1 microduplication syndrome 251046 6p22 microdeletion syndrome 293843 3MC syndrome 250999 1q41q42 microdeletion syndrome 96125 6p25 microdeletion syndrome 6 3-methylcrotonylglycinuria 250999 1q41-q42 microdeletion syndrome 99135 6-phosphogluconate dehydrogenase 67046 3-methylglutaconic aciduria type 1 deficiency 238769 1q44 microdeletion syndrome 111 3-methylglutaconic aciduria type 2 13 6-pyruvoyl-tetrahydropterin synthase 976 2,8 dihydroxyadenine urolithiasis deficiency 67047 3-methylglutaconic aciduria type 3 869 2A syndrome 75857 6q terminal deletion 67048 3-methylglutaconic aciduria type 4 79154 2-aminoadipic 2-oxoadipic aciduria 171829 6q16 deletion syndrome 66634 3-methylglutaconic aciduria type 5 19 2-hydroxyglutaric acidemia 251056 6q25 microdeletion syndrome 352328 3-methylglutaconic -
Emery and Rimoin's Principles and Practice Of
9 Disorders of the Venous System Pascal Brouillard,1 Nisha Limaye,1 Laurence M. Boon,1,2 Miikka Vikkula1,3 1Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium, 2Center for Vascular Anomalies, Division of Plastic Surgery, Cliniques Universitaires St-Luc, Université catholique de Louvain, Brussels, Belgium, 3Walloon Excellence in Lifesciences and Biotechnology (WELBIO), Université catholique de Louvain, Brussels, Belgium 9.1 INTRODUCTION hemangioma) and more slow-growing vascular malfor- mations. The latter are subcategorized according to the The vasculature is the first organ system to develop during type(s) of vessel(s) altered [5–7] into capillary, venous, embryogenesis, delivering nutrients, growth factors, and arteriovenous, lymphatic, and combined malformations. oxygen to tissues and removing wastes. It is made up of four major types of vessels: arteries, capillaries, veins, and lymphatic vessels, all of which have a single layer of endo- 9.2 THE VENOUS SYSTEM thelial cells (ECs) forming the innermost layer. In blood Veins collect CO2-rich blood from the capillary net- vessels, the endothelial tubes are supported by a layer of work and contain about 75%–80% of the total volume of vascular smooth muscle cells (vSMCs) and/or pericytes blood in the body. They have larger lumens than arteries, (together called mural cells) of variable thickness. A base- with thinner, less muscular walls. Venous flow is passive, ment membrane separates the endothelial and vSMC essentially mediated by physical movements of the body layers, with an extracellular matrix (ECM) of fibrous and and the aspirating effect exerted by the heart. The pres- elastic proteins and carbohydrate polymers forming the ence of valves ensures correct orientation of blood flow.