DOCSLIB.ORG

Psykisk Utviklingshemming

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Psykisk Utviklingshemming Psykisk utviklingshemming Genpanel, versjon v02 Endring fra v01: Fjernet BRCA2 Tabellen er sortert på gennavn (HGNC gensymbol) Navn på gen er iht. HGNC Kolonnen >x10 viser andel av genet som vi forventer blir lest med tilfredstillende kvalitet flere enn 10 ganger under sekvensering Gen Transkript >10x Fenotype (symbol) AAAS NM_015665.5 100% Achalasia-addisonianism-alacrimia syndrome OMIM AASS NM_005763.3 100% Hyperlysinemia OMIM Saccharopinuria OMIM ABCC9 NM_005691.3 100% Hypertrichotic osteochondrodysplasia OMIM ABCD1 NM_000033.3 76% Adrenoleukodystrophy OMIM ABCD4 NM_005050.3 100% Methylmalonic aciduria and homocystinuria, cblJ type OMIM ABHD5 NM_016006.4 100% Chanarin-Dorfman syndrome OMIM ACAD9 NM_014049.4 100% Mitochondrial complex I deficiency due to ACAD9 deficiency OMIM ACADM NM_000016.5 100% Acyl-CoA dehydrogenase, medium chain, deficiency of OMIM ACADS NM_000017.3 100% Acyl-CoA dehydrogenase, short-chain, deficiency of OMIM ACADVL NM_000018.3 100% VLCAD deficiency OMIM ACAT1 NM_000019.3 100% Alpha-methylacetoacetic aciduria OMIM ACO2 NM_001098.2 97% Infantile cerebellar-retinal degeneration OMIM ACOX1 NM_004035.6 100% Peroxisomal acyl-CoA oxidase deficiency OMIM ACSL4 NM_004458.2 99% Mental retardation, X-linked 63 OMIM Gen Transkript >10x Fenotype (symbol) ACTA2 NM_001613.2 100% Moyamoya disease 5 OMIM Multisystemic smooth muscle dysfunction syndrome OMIM ACTB NM_001101.3 100% ?Dystonia, juvenile-onset OMIM Baraitser-Winter syndrome 1 OMIM ACTG1 NM_001614.3 100% Baraitser-Winter syndrome 2 OMIM Deafness, autosomal dominant 20/26 OMIM ACVR1 NM_001105.4 100% Fibrodysplasia ossificans progressiva OMIM ACVR2B NM_001106.3 100% Heterotaxy, visceral, 4, autosomal OMIM ACY1 NM_000666.2 100% Aminoacylase 1 deficiency OMIM ADAR NM_001111.4 100% Aicardi-Goutieres syndrome 6 OMIM Dyschromatosis symmetrica hereditaria OMIM ADCK3 NM_020247.4 100% Coenzyme Q10 deficiency, primary, 4 OMIM ADK NM_001123.3 100% Hypermethioninemia due to adenosine kinase deficiency OMIM ADNP NM_015339.3 100% Helsmoortel-van der Aa syndrome OMIM ADRA2B NM_000682.6 100% Epilepsy, myoclonic, familial adult, 2 OMIM ADSL NM_000026.2 100% Adenylosuccinase deficiency OMIM AFF2 NM_002025.3 100% Mental retardation, X-linked, FRAXE type OMIM AFG3L2 NM_006796.2 98% Ataxia, spastic, 5, autosomal recessive OMIM Spinocerebellar ataxia 28 OMIM AGA NM_000027.3 100% Aspartylglucosaminuria OMIM AGK NM_018238.3 100% Sengers syndrome OMIM AGL NM_000642.2 100% Glycogen storage disease IIIa OMIM Glycogen storage disease IIIb OMIM AGXT NM_000030.2 100% Hyperoxaluria, primary, type 1 OMIM Gen Transkript >10x Fenotype (symbol) AHDC1 NM_001029882.3 99% Xia-Gibbs syndrome OMIM AIFM1 NM_004208.3 100% Combined oxidative phosphorylation deficiency 6 OMIM Cowchock syndrome OMIM Deafness, X-linked 5 OMIM AIMP1 NM_004757.3 100% Leukodystrophy, hypomyelinating, 3 OMIM AKT1 NM_005163.2 100% Cowden syndrome 6 OMIM AKT3 NM_005465.4 100% Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 OMIM ALDH18A1 NM_002860.3 100% Cutis laxa, autosomal dominant 3 OMIM Cutis laxa, autosomal recessive, type IIIA OMIM Spastic paraplegia 9A, autosomal dominant OMIM Spastic paraplegia 9B, autosomal recessive OMIM ALDH3A2 NM_000382.2 100% Sjogren-Larsson syndrome OMIM ALDH4A1 NM_003748.3 100% Hyperprolinemia, type II OMIM ALDH5A1 NM_001080.3 99% Succinic semialdehyde dehydrogenase deficiency OMIM ALDH7A1 NM_001182.4 99% Epilepsy, pyridoxine-dependent OMIM ALDOA NM_000034.3 100% Glycogen storage disease XII OMIM ALDOB NM_000035.3 100% Fructose intolerance OMIM ALG1 NM_019109.4 52% Congenital disorder of glycosylation, type Ik OMIM ALG11 NM_001004127.2 100% Congenital disorder of glycosylation, type Ip OMIM ALG12 NM_024105.3 100% Congenital disorder of glycosylation, type Ig OMIM ALG13 NM_001099922.2 99% Epileptic encephalopathy, early infantile, 36 OMIM ALG2 NM_033087.3 100% ?Congenital disorder of glycosylation, type Ii OMIM Myasthenic syndrome, congenital, 14, with tubular aggregates OMIM ALG3 NM_005787.5 100% Congenital disorder of glycosylation, type Id OMIM Gen Transkript >10x Fenotype (symbol) ALG6 NM_013339.3 99% Congenital disorder of glycosylation, type Ic OMIM ALG8 NM_024079.4 100% Congenital disorder of glycosylation, type Ih OMIM ALG9 NM_001077691.1 100% Congenital disorder of glycosylation, type Il OMIM Gillessen-Kaesbach-Nishimura syndrome OMIM ALMS1 NM_015120.4 100% Alstrom syndrome OMIM ALPL NM_000478.4 100% Hypophosphatasia, adult OMIM Hypophosphatasia, childhood OMIM Hypophosphatasia, infantile OMIM Odontohypophosphatasia OMIM ALX1 NM_006982.2 100% ?Frontonasal dysplasia 3 OMIM ALX3 NM_006492.2 94% Frontonasal dysplasia 1 OMIM ALX4 NM_021926.3 100% Frontonasal dysplasia 2 OMIM Parietal foramina 2 OMIM AMER1 NM_152424.3 100% Osteopathia striata with cranial sclerosis OMIM AMPD2 NM_001257360.1 100% Pontocerebellar hypoplasia, type 9 OMIM AMT NM_000481.3 100% Glycine encephalopathy OMIM ANKRD11 NM_013275.5 98% KBG syndrome OMIM AP1S2 NM_003916.4 91% Mental retardation, X-linked syndromic 5 OMIM AP4B1 NM_006594.3 100% Spastic paraplegia 47, autosomal recessive OMIM AP4E1 NM_007347.4 100% Spastic paraplegia 51, autosomal recessive OMIM AP4M1 NM_004722.3 99% Spastic paraplegia 50, autosomal recessive OMIM AP4S1 NM_007077.4 100% Spastic paraplegia 52, autosomal recessive OMIM APOPT1 NM_032374.4 100% Mitochondrial complex IV deficiency OMIM Gen Transkript >10x Fenotype (symbol) APTX NM_175073.2 94% Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia OMIM ARFGEF2 NM_006420.2 100% Periventricular heterotopia with microcephaly OMIM ARG1 NM_000045.3 100% Argininemia OMIM ARHGAP31 NM_020754.3 99% Adams-Oliver syndrome 1 OMIM ARHGEF6 NM_004840.2 100% Mental retardation, X-linked 46 OMIM ARHGEF9 NM_015185.2 100% Epileptic encephalopathy, early infantile, 8 OMIM ARID1A NM_006015.4 99% Coffin-Siris syndrome 2 OMIM ARID1B NM_020732.3 99% Coffin-Siris syndrome 1 OMIM ARL6 NM_177976.2 100% Bardet-Biedl syndrome 3 OMIM {Bardet-Biedl syndrome 1, modifier of} OMIM ARSA NM_000487.5 100% Metachromatic leukodystrophy OMIM ARSE NM_000047.2 99% Chondrodysplasia punctata, X-linked recessive OMIM ARX NM_139058.2 89% Epileptic encephalopathy, early infantile, 1 OMIM Hydranencephaly with abnormal genitalia OMIM Lissencephaly, X-linked 2 OMIM Mental retardation, X-linked 29 and others OMIM Partington syndrome OMIM Proud syndrome OMIM ASAH1 NM_177924.3 100% Farber lipogranulomatosis OMIM Spinal muscular atrophy with progressive myoclonic epilepsy OMIM ASL NM_000048.3 100% Argininosuccinic aciduria OMIM ASPA NM_000049.2 100% Canavan disease OMIM ASPM NM_018136.4 100% Microcephaly 5, primary, autosomal recessive OMIM ASS1 NM_000050.4 98% Citrullinemia OMIM Gen Transkript >10x Fenotype (symbol) ASXL1 NM_015338.5 100% Bohring-Opitz syndrome OMIM ASXL3 NM_030632.1 100% Bainbridge-Ropers syndrome OMIM ATIC NM_004044.6 100% AICA-ribosiduria due to ATIC deficiency OMIM ATM NM_000051.3 100% Ataxia-telangiectasia OMIM ATP13A2 NM_022089.3 100% ?Ceroid lipofuscinosis, neuronal, 12 OMIM Kufor-Rakeb syndrome OMIM ATP1A3 NM_152296.4 100% Alternating hemiplegia of childhood 2 OMIM CAPOS syndrome OMIM Dystonia-12 OMIM ATP6AP2 NM_005765.2 99% ?Mental retardation, X-linked, syndromic, Hedera type OMIM ?Parkinsonism with spasticity, X-linked OMIM ATP7A NM_000052.6 100% Menkes disease OMIM Occipital horn syndrome OMIM Spinal muscular atrophy, distal, X-linked 3 OMIM ATR NM_001184.3 99% GAPO syndrome OMIM Seckel syndrome 1 OMIM ATRX NM_000489.4 99% Alpha-thalassemia/mental retardation syndrome OMIM Mental retardation-hypotonic facies syndrome, X-linked OMIM AUH NM_001698.2 100% 3-methylglutaconic aciduria, type I OMIM AUTS2 NM_015570.3 99% Mental retardation, autosomal dominant 26 OMIM B3GALNT2 NM_152490.4 100% Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 OMIM B4GALT7 NM_007255.2 99% Ehlers-Danlos syndrome with short stature and limb anomalies OMIM BBS1 NM_024649.4 100% Bardet-Biedl syndrome 1 OMIM BBS10 NM_024685.3 100% Bardet-Biedl syndrome 10 OMIM BBS12 NM_152618.2 100% Bardet-Biedl syndrome 12 OMIM BBS2 NM_031885.3 100% Bardet-Biedl syndrome 2 OMIM Retinitis pigmentosa 74 OMIM Gen Transkript >10x Fenotype (symbol) BBS4 NM_033028.4 100% Bardet-Biedl syndrome 4 OMIM BBS5 NM_152384.2 100% Bardet-Biedl syndrome 5 OMIM BBS7 NM_176824.2 100% Bardet-Biedl syndrome 7 OMIM BBS9 NM_198428.2 100% Bardet-Biedl syndrome 9 OMIM BCAP31 NM_001139441.1 98% Deafness, dystonia, and cerebral hypomyelination OMIM BCKDHA NM_000709.3 100% Maple syrup urine disease, type Ia OMIM BCKDHB NM_183050.2 99% Maple syrup urine disease, type Ib OMIM BCOR NM_017745.5 99% Microphthalmia, syndromic 2 OMIM BCS1L NM_004328.4 100% Bjornstad syndrome OMIM GRACILE syndrome OMIM Leigh syndrome OMIM Mitochondrial complex III deficiency, nuclear type 1 OMIM BICD2 NM_001003800.1 100% Spinal muscular atrophy, lower extremity-predominant, 2, AD OMIM BIN1 NM_139343.2 100% Myopathy, centronuclear, autosomal recessive OMIM BLM NM_000057.3 100% Bloom syndrome OMIM BMP4 NM_001202.3 100% Microphthalmia, syndromic 6 OMIM BMPER NM_133468.4 100% Diaphanospondylodysostosis OMIM BOLA3 NM_212552.2 97% Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia OMIM BRAF NM_004333.4 99% Cardiofaciocutaneous syndrome OMIM LEOPARD syndrome 3 OMIM Noonan syndrome 7 OMIM BRAT1 NM_152743.3 100% Rigidity and multifocal seizure syndrome, lethal neonatal OMIM BRIP1 NM_032043.2 100% Fanconi anemia, complementation group J OMIM Gen Transkript >10x Fenotype (symbol) BRWD3 NM_153252.4 99% Mental retardation, X-linked 93 OMIM BSND NM_057176.2
Load more

Recommended publications
  • Moderate the MAOA-L Allele Expression with CRISPR/Cas9 System
    Preprints (www.preprints.org) | NOT PEER-REVIEWED | Posted: 23 April 2018 doi:10.20944/preprints201804.0275.v1 1 Review 2 Moderate the MAOA-L Allele Expression with CRISPR/Cas9 System 3 Martin L. Nelwan 4 Department of Animal Science – Other 5 Nelwan Institution for Human Resource Development 6 Jl. A. Yani No. 24 7 Palu, Sulawesi Tengah, Indonesia 8 Email: [email protected] 9 Abstract: Antisocial behavior is a behavior disorder inherited according to the inheritance of X-linked 10 chromosome. Mutations in the MAOA gene can cause different behaviors in humans. These can comprise 11 violent behavior or antisocial behavior. Low MAOA (MAOA-L) allele activity can cause antisocial 12 behavior in both healthy and unhealthy people. Antisocial from healthy males can originate from 13 maltreatment during childhood. There are no drugs for the treatment of antisocial behavior permanently 14 at this time. MAOA inhibitor can reverse antisocial behavior in animal models. To cure antisocial 15 behavior in the future, the CRISPR/Cas9 system in combination with iPSCs or ssODN methods for 16 instance can be used. This system has succeeded to correct erroneous segments in the F8 gene and F9 17 gene. Both genes occupy the X chromosome. The MAOA gene also occupies the X chromosome. It seems 18 that CRISPR/Cas9 system may be a beneficial tool to edit erroneous segments in the MAOA gene to treat 19 antisocial behavior. 20 Keywords: advanced therapy, aggressive, antisocial, behavior, MAOA. 21 22 1. Introduction 23 Antisocial behavior is a hereditary disorder inherited through an X-linked recessive inheritance 24 pattern.
    [Show full text]
  • Second-Tier DNA Confirmation of Newborn Screening Results
    Second-tier DNA Confirmation of Newborn Screening by Targeted Next Generation Sequencing Edwin Naylor, Ph.D. MPH Andy Bhattacharjee , Ph.D. Erik Puffenberger, Ph.D.; Kevin Strauss, MD; Holmes Morton, MD Newborn Screening & Clinical Genomics 1961 1990’s 2010-2012 2 Robert Guthrie Development of develops simple automated MS/MS Newborn Screening screening across (NBS) several disorders Current de facto standard 2 Why Newborn Genomics? • Mendelian Diseases disproportionately affect Newborns - ~3500 genetic diseases with molecular basis - >10% of NICU admissions are genetic Clinical manifestation of Genetic diseases - Current NBS tests limited to 29+ diseases CHROMOSOMAL - 2nd tier DNA testing to validate biochemical results MULTI-FACTORIAL SINGLE GENE (MENDELIAN) • Advantage of NGS based DNA testing individuals # of Affected - Find causal variants (rare/novel) in gene(s) - A ‘universal’ NGS approach avoids repeated, serial BIRTH PUBERTY ADULT single gene testing Gelehrter TD, Collins FS, Ginsburg D. Principles of - Current Sanger sequencing is expensive ($3-10K) and Medical Genetics. 2nd ed. Baltimore, MD: Williams & slow (3 months to 1 year) Wilkins; 1998:1-42 NICU- Neonatal Intensive Care Unit NBS-Newborn Screening 3 NGS-Next Generation Sequencing Why Targeted (Exome) Sequencing for now? NGS Sequencing * Genomic DNA from Causal Mutations in Affected Individuals Exons/Target Regions Fold Test Menu Cost ($) Throughput Efficiency Whole Genome (Res.) 7,666* 1 1 Exome (Res) 1,200 15 95 Neonate Panel (Clinical) <1000 150 >1140 •Majority of known disease-causing mutations in exons •Exome = protein-encoding parts of genes •Targeted NGS is Cost & Throughput Efficient *Saunders et al., (2012) Rapid Whole Genome Sequencing for Genetic Disease Diagnosis in NICUs 4 Workflow for 2nd Tier Newborn Screening Sample 2h DNA Capture 92h Raw Data 10h Analysis 1h+ Isolation & Sequencing Management & Interpretation 8 samples, 105 Hrs, <$10,000 = Real Neonatal Genomics! 5 Workflow for 2nd Tier Newborn Screening Sample •High M.Wt.
    [Show full text]
  • Blueprint Genetics Hereditary Leukemia Panel
    Hereditary Leukemia Panel Test code: ON0101 Is a 41 gene panel that includes assessment of non-coding variants. Is ideal for patients with a personal history of a syndrome that confers an increased risk of leukemia or patients with a family history of a syndrome that confers an increased risk of leukemia. About Hereditary Leukemia An inherited predisposition to hematological malignancies, namely acute lymphoblastic leukemia (ALL), acute myeloid leukemia (AML), and bone marrow myelodysplastic syndrome (MDS) may be associated with syndromic features or occur as the principal clinical feature. MDSs and AMLs can occur in the context of syndromic bone marrow failure (eg. dyskeratosis congenita, Fanconi anemia). Other hereditary syndromes with an increased risk of leukemia include Li-Fraumeni syndrome (TP53), ataxia telangiectasia (ATM), Bloom syndrome (BLM), neurofibromatosis type 1 (NF1) and less frequently Noonan syndrome (PTPN11, CBL). Some reports have also shown an association of biallelic germline mutations in constitutional mismatch repair-deficiency syndrome genes, MLH1, MSH2, MSH6, and PMS2 with the development of ALL. Isolated hematological malignancies are associated with germline mutations in RUNX1 (familial platelet syndrome with predisposition to acute myelogenous leukemia), CEBPA (familial AML), GATA2 (GATA2-associated syndromes) and DDX41(DDX41 -related myeloid neoplasms). There is a rapidly expanding list of germline mutations associated with increased risks for myeloid malignancies and inherited predisposition to hematologic malignancies may be more common than has been thought. Many different genetic defects associated with the development of leukemia have been described but the common underlying mechanism is a dysfunctional DNA damage response. Recognition of an inherited cause provides a specific molecular diagnosis and helps to guide treatment, understand unique disease features, prognosis and other organ systems that may be involved, and identify others in the family who may be at risk.
    [Show full text]
  • Clinical Issues in Neonatal Care
    Linda Ikuta , MN, RN, CCNS, PHN , and Ksenia Zukowsky, PhD, APRN, NNP-BC ❍ Section Editors Clinical Issues in Neonatal Care 2.5 HOURS Continuing Education Deconstructing Black Swans An Introductory Approach to Inherited Metabolic Disorders in the Neonate Nicholas Ah Mew , MD ; Sarah Viall , MSN, PPCNP ; Brian Kirmse , MD ; Kimberly A. Chapman , MD, PhD ABSTRACT Background: Inherited metabolic disorders (IMDs) are individually rare but collectively common disorders that frequently require rapid or urgent therapy. Purpose: This article provides a generalized approach to IMDs, as well as some investigations and safe therapies that may be initiated pending the metabolic consult. Methods/Search Strategy: An overview of the research supporting management strategies is provided. In addition, the newborn metabolic screen is reviewed. Findings/Results: Caring for infants with IMDs can seem difficult because each of the types is rarely seen; however, collectively the management can be seen as similar. Implications for Practice: When an IMD is suspected, a metabolic specialist should be consulted for expert advice regarding appropriate laboratory investigations and management. Because rapid intervention of IMDs before the onset of symptoms may prevent future irreversible sequelae, each abnormal newborn screen must be addressed promptly. Implications for Research: Management can be difficult. Research in this area is limited and can be difficult without multisite coordination since sample sizes of any significance are difficult to achieve. Key Words:
    [Show full text]
  • PTEN Mutations the PTEN Hamartoma Tumor Synd
    Updated December 2019 (NCCN v1.2020) Cowden Syndrome/PTEN Hamartoma Tumor Syndrome: PTEN Mutations The PTEN Hamartoma Tumor Syndrome (PHTS) is a spectrum of highly variable conditions with overlapping features. This spectrum includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), and PTEN-related autism spectrum disorder.1-3 The term PHTS describes any individual with a germline pathogenic PTEN mutation, regardless of their clinical presentation.4 PHTS is a multisystem syndrome primarily characterized by noncancerous (benign), tumor-like growths called hamartomas that can develop throughout the body. There is also an increased risk of adult-onset cancers.5 Cancer Risks and General Management Recommendations PTEN Mutation General Surveillance/Management Recommendations9 Carrier Cancer Population Risks2,4-8 Lifetime Cancer Risks Female Breast: 12.4% Surveillance Primary: 33-60% Breast awareness, including periodic, consistent breast self exams, Second Primary: starting at age 18 years 29% within 10 Clinical breast exam every 6-12 months starting at age 25 years, or 5- years10 10 years before the earliest breast cancer diagnosis in the family (whichever comes first) Annual mammogram with consideration of tomosynthesis and breast MRI with contrast at age 30-35 years, or 5-10 years before the earliest breast cancer diagnosis in the family (whichever comes first) Age >75 years: Management should be considered on an individual basis Surgery Discuss option of risk-reducing mastectomy, including degree of protection, reconstruction
    [Show full text]
  • Inherited Metabolic Disease
    Inherited metabolic disease Dr Neil W Hopper SRH Areas for discussion • Introduction to IEMs • Presentation • Initial treatment and investigation of IEMs • Hypoglycaemia • Hyperammonaemia • Other presentations • Management of intercurrent illness • Chronic management Inherited Metabolic Diseases • Result from a block to an essential pathway in the body's metabolism. • Huge number of conditions • All rare – very rare (except for one – 1:500) • Presentation can be non-specific so index of suspicion important • Mostly AR inheritance – ask about consanguinity Incidence (W. Midlands) • Amino acid disorders (excluding phenylketonuria) — 18.7 per 100,000 • Phenylketonuria — 8.1 per 100,000 • Organic acidemias — 12.6 per 100,000 • Urea cycle diseases — 4.5 per 100,000 • Glycogen storage diseases — 6.8 per 100,000 • Lysosomal storage diseases — 19.3 per 100,000 • Peroxisomal disorders — 7.4 per 100,000 • Mitochondrial diseases — 20.3 per 100,000 Pathophysiological classification • Disorders that result in toxic accumulation – Disorders of protein metabolism (eg, amino acidopathies, organic acidopathies, urea cycle defects) – Disorders of carbohydrate intolerance – Lysosomal storage disorders • Disorders of energy production, utilization – Fatty acid oxidation defects – Disorders of carbohydrate utilization, production (ie, glycogen storage disorders, disorders of gluconeogenesis and glycogenolysis) – Mitochondrial disorders – Peroxisomal disorders IMD presentations • ? IMD presentations • Screening – MCAD, PKU • Progressive unexplained neonatal
    [Show full text]
  • Regulation of Skeletal Muscle Glucose Transport and Glucose Metabolism by Exercise Training
    nutrients Review Regulation of Skeletal Muscle Glucose Transport and Glucose Metabolism by Exercise Training Parker L. Evans 1,2,3, Shawna L. McMillin 1,2,3 , Luke A. Weyrauch 1,2,3 and Carol A. Witczak 1,2,3,4,* 1 Department of Kinesiology, East Carolina University, Greenville, NC 27858, USA; [email protected] (P.L.E.); [email protected] (S.L.M.); [email protected] (L.A.W.) 2 Department of Physiology, Brody School of Medicine, East Carolina University, Greenville, NC 27834, USA 3 East Carolina Diabetes & Obesity Institute, East Carolina University, Greenville, NC 27834, USA 4 Department of Biochemistry & Molecular Biology, Brody School of Medicine, East Carolina University, Greenville, NC 27834, USA * Correspondence: [email protected]; Tel.: +1-252-744-1224 Received: 8 September 2019; Accepted: 8 October 2019; Published: 12 October 2019 Abstract: Aerobic exercise training and resistance exercise training are both well-known for their ability to improve human health; especially in individuals with type 2 diabetes. However, there are critical differences between these two main forms of exercise training and the adaptations that they induce in the body that may account for their beneficial effects. This article reviews the literature and highlights key gaps in our current understanding of the effects of aerobic and resistance exercise training on the regulation of systemic glucose homeostasis, skeletal muscle glucose transport and skeletal muscle glucose metabolism. Keywords: aerobic exercise; blood glucose; functional overload; GLUT; hexokinase; insulin resistance; resistance exercise; SGLT; type 2 diabetes; weightlifting 1. Introduction Exercise training is defined as planned bouts of physical activity which repeatedly occur over a duration of time lasting from weeks to years.
    [Show full text]
  • Otocephaly: Agnathia-Microstomia-Synotia Syndrome Tanya Kitova1, Borislav D Kitov2
    CASE REPORT Otocephaly: Agnathia-Microstomia-Synotia Syndrome Tanya Kitova1, Borislav D Kitov2 ABSTRACT The aim of the study is to present otocephaly, which is a rare congenital lethal malformation. Until this moment, only a little bit more than 100 cases worldwide were reported, and only 22 cases of prediagnosed otocephaly. Background: Otocephaly or agnathia-microstomia-synotia syndrome (SAMS) is characterized by agenesis of mandible (agnathia), disposition or fusion of the auricle (synotia), microstomia, and complete or partial lack of language (aglossia), which often ends up lethal. Case description: A 499.7 g male fetus was obtained after a therapeutic abortion during the 23rd gestational week at the Center for Maternity and Neonatology, Embryo-fetopathology Clinic, Tunis, Tunisia. The mother is an 18-year-old with close relative marriage with first-degree incest, primigravida. Examination of the fetus revealed microcephaly with craniosynostosis, hypertelorism, closed eyelid exophthalmos, one nostril, point microstomia, mandibular agenesis, bilateral, and auditory cysts of neck. The ears are located at the level of the neck. A study of the brain and the base of the skull revealed holoprosencephaly and sphenoid bone agenesis. There are no internal organ abnormalities. Conclusion: In cases where, at the end of the second trimester of pregnancy, polyhydramnios is detected, inability to visualize the mandible, and malposition of ears, otocephaly should be suspected. In these cases, the decision to interrupt pregnancy should be taken by a multidisciplinary team, after an magnetic resonance imaging, which is much better in visualizing location of the ears and other facial malformations and the presence of other associated anomalies.
    [Show full text]
  • Exostoses, Enchondromatosis and Metachondromatosis; Diagnosis and Management
    Acta Orthop. Belg., 2016, 82, 102-105 ORIGINAL STUDY Exostoses, enchondromatosis and metachondromatosis; diagnosis and management John MCFARLANE, Tim KNIGHT, Anubha SINHA, Trevor COLE, Nigel KIELY, Rob FREEMAN From the Department of Orthopaedics, Robert Jones Agnes Hunt Hospital, Oswestry, UK We describe a 5 years old girl who presented to the region of long bones and are composed of a carti- multidisciplinary skeletal dysplasia clinic following lage lump outside the bone which may be peduncu- excision of two bony lumps from her fingers. Based on lated or sessile, the knee is the most common clinical examination, radiolographs and histological site (1,10). An isolated exostosis is a common inci- results an initial diagnosis of hereditary multiple dental finding rarely requiring treatment. Disorders exostosis (HME) was made. Four years later she developed further lumps which had the radiological associated with exostoses include HME, Langer- appearance of enchondromas. The appearance of Giedion syndrome, Gardner syndrome and meta- both exostoses and enchondromas suggested a possi- chondromatosis. ble diagnosis of metachondromatosis. Genetic testing Enchondroma are the second most common be- revealed a splice site mutation at the end of exon 11 on nign bone tumour characterised by the formation of the PTPN11 gene, confirming the diagnosis of meta- hyaline cartilage in the medulla of a bone. It occurs chondromatosis. While both single or multiple exosto- most frequently in the hand (60%) and then the feet. ses and enchondromas occur relatively commonly on The typical radiological features are of a well- their own, the appearance of multiple exostoses and defined lucent defect with endosteal scalloping and enchondromas together is rare and should raise the differential diagnosis of metachondromatosis.
    [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]
  • Genes in Eyecare Geneseyedoc 3 W.M
    Genes in Eyecare geneseyedoc 3 W.M. Lyle and T.D. Williams 15 Mar 04 This information has been gathered from several sources; however, the principal source is V. A. McKusick’s Mendelian Inheritance in Man on CD-ROM. Baltimore, Johns Hopkins University Press, 1998. Other sources include McKusick’s, Mendelian Inheritance in Man. Catalogs of Human Genes and Genetic Disorders. Baltimore. Johns Hopkins University Press 1998 (12th edition). http://www.ncbi.nlm.nih.gov/Omim See also S.P.Daiger, L.S. Sullivan, and B.J.F. Rossiter Ret Net http://www.sph.uth.tmc.edu/Retnet disease.htm/. Also E.I. Traboulsi’s, Genetic Diseases of the Eye, New York, Oxford University Press, 1998. And Genetics in Primary Eyecare and Clinical Medicine by M.R. Seashore and R.S.Wappner, Appleton and Lange 1996. M. Ridley’s book Genome published in 2000 by Perennial provides additional information. Ridley estimates that we have 60,000 to 80,000 genes. See also R.M. Henig’s book The Monk in the Garden: The Lost and Found Genius of Gregor Mendel, published by Houghton Mifflin in 2001 which tells about the Father of Genetics. The 3rd edition of F. H. Roy’s book Ocular Syndromes and Systemic Diseases published by Lippincott Williams & Wilkins in 2002 facilitates differential diagnosis. Additional information is provided in D. Pavan-Langston’s Manual of Ocular Diagnosis and Therapy (5th edition) published by Lippincott Williams & Wilkins in 2002. M.A. Foote wrote Basic Human Genetics for Medical Writers in the AMWA Journal 2002;17:7-17. A compilation such as this might suggest that one gene = one disease.
    [Show full text]
  • 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.
    [Show full text]