Bibliography of Human Genetics*

Total Page:16

File Type:pdf, Size:1020Kb

Bibliography of Human Genetics* BIBLIOGRAPHY OF HUMAN GENETICS* R. H. POST Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan Selections from the Current List of Medical Literature through February, 1959 and other sources 296. AGER, J. A., LEHMANN, H., & VELLA, F. 1958. Haemoglobin Norfolk: a new haemoglobin found in an English family with observations on the naming of new haemoglobin variants Brit. M. J. 5095: 539-541. 297. ALEXANDER, J. O., & GRANT, P. W. 1958. Monilethrix; report of three cases with family his- tory. Scot. M. J. 3(8): 356-360. 298. ALLAN, J. D., CUSWORTH, D. C., DENT, C. E., & WILSON, V. K. 1958. A disease, probably hereditary, characterized by severe mental deficiency and a constant gross abnormality of aminoacid metabolism. Lancet, Lond. 1(7013): 182-187. 299. ALLISON, A. C. 1958. The genetical and clinical significance of the haptoglobins. Proc. R. Soc. Ml., Lond. 51(8): 641-645. 300. ALLISON, A. C., & BLUMBERG, B. S. 1958. Familial osteoarthropathy of the fingers. J. Bonc Surg. Brit. VZol. 40-B(3): 538-545. 301. ALLORI, L., & VITAMIA, P. 1958. Osservazioni genetistiche su 44 casi di cardiopatie acquisite. [Genetic observations on 44 cases of acquired heart disease] Acta genet. med. gemellol., Roma 7(3): 397-410. 302. AMYOT, R. 1958. L'Audi-mutite; document clinique portant sur trios membres (lune meme fratrie. [Audimutitas; clinical observation on three members of the same family] Presse med. 66(56): 1289-1292. 303. ANASTASI, A. 1958. Heredity, environment, and the question how? Psychol. Rev. 65(4): 197-208. 304. ANDERSEN, J. 1958. Modifying influence of the secretor gene on the development of the ABH substance; a contribution to the conception of the Lewis group system. 1V.ox sanguinis, Basel 3(4): 251-261. 305. ANONYMOUS. 1958. Cystinuria. Q. Rev. Pediat. 13(3): 113-115. 306. ANONYMOUS. 1958. Inheritance of rheumatoid arthritis. Brit. AI. J. 5101: 903. 307. ANONYMOUS. 1958. Marfan's syndrome. Brit. M. J. 5101: 903-904. 308. ANONYMOUS. 1958. Peptic ulcer in twins. Brit. M. J. 5085: 1470-1471. 309; ARONSON, S. M., SAIFER, A., KANOF, A., & VOLK, B. W. 1958. Progression of amaurotic family idiocy as reflected by serum and cerebrospinal fluid changes. Ain. J. Med. 24(3): 390-401. 310. BEARN, A. G., & FRANKLIN, E. C. 1958. Some genetical implications of physical studies of human haptoglobins. Science 128 (3324): 596-597. 311. BEKER, S., & READ, A. E. 1958. Familial Dubin-Johnson syndrome. Gastroenterology 35(4): 387-389. 312. BERNARD, J., MATHE, G., & NAJEAN, Y. 1958. Contribution & letude clitnique et physiopatho- logique de la maladie de Fanconi. [Clinical & physiopathological study of Fanconi's disease] Rev. fr. clin. biol. 3(6): 599-612. 313. BETKE, K. 1958. Hamoglobinanomalien. Schweiz. med. Wschr. 88(41): 1005-1100. 314. BOLIA, M. C., & RovESCALLI, A. 1958. Indagini istochimiche ed osservazioni anatomopato- logiche in clue forme di distrofia corneale familiare. [Histochemical data and anatomopatho- logical observations in two forms of familial corneal dystrophy] Ann. ottalin. 84(6): 267-290. 315. BRANDT, H., & REVAZ, C. 1958. Jumelles univitellines et situs inversus. [Monozygotic twins and situs inversus] J. genet. humaine, Geneve 7(1-2): 33-45. 316. CARP, C. 1958. Disociatie atrio-ventriculara completa, congenitall si familiala la patru membri ai aceleiasi familii. [Complete, congenital and familial auriculoventricular dissociation in four members of the same family] Med. int., Bucur. 10(5): 761-768. * Supported in part by the National Institutes of Health, grant number C-3874. 208 BIBLIOGRAPHY 209 317. CHAUDHURI, A., CHAUDHURI, J. N., & CHAUDHURI, K. C. 1958. Congenital porphyria in siblings; with a brief review of congenital and hereditary porphyrias. Ind. J. Pediat. 25(123): 157-172. 318. CREvELD, S. VAN, & LIEM, K. H. 1958. Congenital afibrinogenemia. At. neonatal. 7(3): 89-100. 319. DAILLY, R., & SAMSON, M. 1958. Forme familiale d'arthrogrypose. Rev. neur., Par. 98(4): 320-328. 320. DENSON, K. W. 1958. Electrophoretic studies of the Prower factor; a blood coagulation factor which differs from factor VII. Brit. J. Haemat. 4(3): 313-325. 321. DEUTSCH, E. 1957. Eine neue Thrombopathie-Familie. [A new familial thrombopathy] lThronzb. diath. haem., Stuttg. 1(2): 261-263. 322. DIDISHEIM, P., FERGUSON, J. H., & LEWIS, J. H. 1958. Hemostatic data in relatives of hemo- philiacs A and B; evidence for modifying the classical sex-linked recessive hypothesis. A. M. A. Arch. Int. M. 101(2): 347-354. 323. Di SANT'AGNESE, P. A., GROSSMAN, H., DARLING, R. C., & DENNING, C. R. Saliva, tears and duodenal contents in cystic fibrosis of the pancreas. Pediatrics 22(3): 507-514. 324. DORN, H. 1958. Allergische Diathese in einer Familie uber vier Generationen. [Allergic di- athesis in a family of four generations] Zschr. Haut & Geschlkr. 25(2): 45-48. 325. DORN, H. 1957. Biochemisch-genetische Betrachtungen zur Epidermolysis bullosa hereditaria und entsprechende therapeutische Massnahmen. [Biochemical-genetic notes on hereditary epidermolysis bullosa and adequate therapeutic measures] Zschr. Haut & Geschlkr. 23(11): 316-320. 326. DRISCOLL, S. G., & HSIA, D. Y. Y. 1958. The development of enzyme systems during early infancy. Pediatrics 22(4), Part 2: 785-845. 327. DURHAM, D. G. 1958. Congenital hereditary Horner's syndrome. A. M. A. Arch. Ophth. 60(5): 939-940. 328. EBERLEIN, W. R., & BONGIOVANNI, A. M. 1956. Congenital adrenal hyperplasia: an inborn error of metabolism. Helvet. paediat. acta 11(2): 105-117. 329. EHRING, F., & NIERMANN, H. 1958. Haut- und Halslymphknotentuberkulose bei 88 Zwilling- spaaren. [Cutaneous and cervical lymph node tuberculosis in 88 pairs of twins] Arch. klin. exp. Derm., Berl. 205(6): 617-627. 330. ENGER, E. 1958. Wilson's sykdom, spesielt med henblikk pa de biokjemiske forstyrrelser. [Wil- son's disease with special reference to biochemical disorders] Tskr. Norske laegeforen. 78(16): 718-784. 331. ERDBRINK, W. L. 1957. Ocular myopathy associated with retinitis pigmentosa. A. M. A. Arch. Ophth. 57(3): 335-338. 332. FOWLER, E. P. 1958. Otosclerosis in ten pairs of identical twins; a continuing study. Ann. Otol. Rhinol. 67(3): 889-904. 333. FURUSHO, T. 1957. A genetic study on congenital deafness. Japanese J. Hu. Gen. 2(2): 35-58. 334. GAYRAL, L., & GAYRAL, J. 1958. Le facies discoide et le status rhizom'galo-discoide; etude genetique. [Discoid face and rhizomegal-discoid status; genetic study] J. genet. humaine, Geneve 7(1-2): 46-66. 335. GEISLER, E., & STRODER, J. 1958. Zur Problematik der Phenylbrenztraubensaure-Oligophrenie. [Problem of phenylpyruvic oligophrenia] Ann. paediat., Basel 191(3): 147-174. 336. GERALD, P. S., & DIAMOND, L. K. 1958. A new hereditary hemoglobinopathy (the Lepore trait) and its interaction with thalassemia trait. Blood, Bost. 13(9): 835-844. 337. GfRARD-LEFEBvRE, BENOIT, M., & QUEVAL, B. 1958. Polycorie glycogenique hepatique chez trois enfants d'une meme fratrie. [Glycogenic hepatic polycoria in 3 children of the same stock] Arch. fr. pddiat. 15(3): 388-395. 338. GIBSON, D., & GIBBINS, R. J. 1958. The relation of mongolism stigmata to intellectual status. Am. J. Ment. Defic. 63(2): 345-348. 339. GoLD, E. R., IKIN, E. W., & MOURANT, A. E. 1958. Serum containing three Rh autohaemagglu- tinins. Brit. M. J. 5107: 1273-1274. 340. GOLDENBERG, I. S., & HAYES, M. A. 1958. Breast carcinoma and ABO blood groups. Cancer, Phila. 11(5): 973-974. 210 BIBLIOGRAPHY 341. GOLDSCHMIDT, R. B. 1958. Materials for the study of dominant personality traits. Folia hered. path. 2(4): 267-295. 342. GORER, P. A. 1958. Genetics of human cancer: a general survey of methods. Ann. N. York. Acad. Sc. 71(6): 1189-1197. 343. GORSUCH, G. E. 1958. Essential hyperlipemia. U. S. Armed Forces M. J. 9(10): 1414:1424. 344. GRAHAM, S., & LILIENFELD, A. M. 1958. Genetic studies of gastric cancer in humans: an ap- praisal. Cancer, Phila. 11(5): 945-958. 345. GREIG, H. B., METZ, J., BRADLOW, B. A., THERON, J. J., & MORRIS, R. W. 1958. The familial crisis in hereditary spherocytosis: report of five cases. S. Afr. J. Ml. Sc. 23(1): 17-32. 346. GREITHER, A. 1958. Uber eine mit Keratosen und Pigmentstorungen einhergehende erbliche Dysplasie der Haut. [A hereditary dysplasia of the skin associated with keratoses and pigment disorders] Hautarzt 9(8) 364-369. 347. HACKZELL, G., & LUNDMARK, C. 1958. Familial juvenile nephronophthisis. Acta paediat., Upps. 47(4): 428-440. 348. HAHNEMAN, B. M., & ALT, H. L. 1958. Cyclic neutropenia in a father and daughter. J. Am. MA. Ass. 168(3): 270-272. 349. HALLGREN, B. 1958. Speciella ls- och skrivsvafrigheter (s.k. ordblindhet). II. Genetiska syn- punkter. [Difficulties in reading and writing (word blindness). II. Genetic aspects] Nord. ned. 59(15): 516-518. 350. HARA, H. J. 1957. Scleroma; observations on seven cases in one family for 10 years and another case which developed intracranial complications after five years. Tr. Am. Lar. Rhin. Otol. Soc.: 326-343. 351. HARGREAVES, G. K., & HELLIER, F. F. 1958. The association of psoriasis with blood groups. A. M. A. Arch. Derm. 78(4): 438-439. 352. HARRIS, H., ROBSON, E. B., & SINISCALCO, M. 1958. P3-Globumin variants in man, Nature, Lond. 182(4633): 452. 353. HARRISON, H. E. 1958. The Fanconi syndrome. J. Chronic Dis. 7(4): 346-355. 354. HART, M. VAN DER, VEER, M. VAN DER, LOGHEM, J. J. VAN, SANGER, R., & RACE, R. R. 1958. Vr, an antigen belonging to the MNSs blood group system. Vox sanguinis, Basel 3(4): 261-265. 355. HAVENER, W. H., STINE, G. T., & WhEISS, L. L. 1958. Corneal donor selection by blood tyrpe. A. M. A. Arch. Ophth. 60(3): 443-447. 356. HEMMELER, G. 1958. Thrombopathie familiale. Schweiz. med. Wschr. 88(41): 1018-1019. 357. HERMANN, P. 1958. Le syndrome microphthalmie-retinite pigmentaire-glaucome. Arc/h. opht., Par. 18(1): 17-24. 358. HITZIG, W. H., & Zollinger, W. 1958. Kongenitaler Faktor- VII-Mangel; Familienuntersu- chung und physiologische Studien uber den Faktor VII.
Recommended publications
  • Hereditary Spherocytosis: Clinical Features
    Title Overview: Hereditary Hematological Disorders of red cell shape. Disorders Red cell Enzyme disorders Disorders of Hemoglobin Inherited bleeding disorders- platelet disorders, coagulation factor Anthea Greenway MBBS FRACP FRCPA Visiting Associate deficiencies Division of Pediatric Hematology-Oncology Duke University Health Service Inherited Thrombophilia Hereditary Disorders of red cell Disorders of red cell shape (cytoskeleton): cytoskeleton: • Mutations of 5 proteins connect cytoskeleton of red cell to red cell membrane • Hereditary Spherocytosis- sphere – Spectrin (composed of alpha, beta heterodimers) –Ankyrin • Hereditary Elliptocytosis-ellipse, elongated forms – Pallidin (band 4.2) – Band 4.1 (protein 4.1) • Hereditary Pyropoikilocytosis-bizarre red cell forms – Band 3 protein (the anion exchanger, AE1) – RhAG (the Rh-associated glycoprotein) Normal red blood cell- discoid, with membrane flexibility Hereditary Spherocytosis: Clinical features: • Most common hereditary hemolytic disorder (red cell • Neonatal jaundice- severe (phototherapy), +/- anaemia membrane) • Hemolytic anemia- moderate in 60-75% cases • Mutations of one of 5 genes (chromosome 8) for • Severe hemolytic anaemia in 5% (AR, parents ASx) cytoskeletal proteins, overall effect is spectrin • fatigue, jaundice, dark urine deficiency, severity dependant on spectrin deficiency • SplenomegalSplenomegaly • 200-300:million births, most common in Northern • Chronic complications- growth impairment, gallstones European countries • Often follows clinical course of affected
    [Show full text]
  • MICHIGAN BIRTH DEFECTS REGISTRY Cytogenetics Laboratory Reporting Instructions 2002
    MICHIGAN BIRTH DEFECTS REGISTRY Cytogenetics Laboratory Reporting Instructions 2002 Michigan Department of Community Health Community Public Health Agency and Center for Health Statistics 3423 N. Martin Luther King Jr. Blvd. P. O. Box 30691 Lansing, Michigan 48909 Michigan Department of Community Health James K. Haveman, Jr., Director B-274a (March, 2002) Authority: P.A. 236 of 1988 BIRTH DEFECTS REGISTRY MICHIGAN DEPARTMENT OF COMMUNITY HEALTH BIRTH DEFECTS REGISTRY STAFF The Michigan Birth Defects Registry staff prepared this manual to provide the information needed to submit reports. The manual contains copies of the legislation mandating the Registry, the Rules for reporting birth defects, information about reportable and non reportable birth defects, and methods of reporting. Changes in the manual will be sent to each hospital contact to assist in complete and accurate reporting. We are interested in your comments about the manual and any suggestions about information you would like to receive. The Michigan Birth Defects Registry is located in the Office of the State Registrar and Division of Health Statistics. Registry staff can be reached at the following address: Michigan Birth Defects Registry 3423 N. Martin Luther King Jr. Blvd. P.O. Box 30691 Lansing MI 48909 Telephone number (517) 335-8678 FAX (517) 335-9513 FOR ASSISTANCE WITH SPECIFIC QUESTIONS PLEASE CONTACT Glenn E. Copeland (517) 335-8677 Cytogenetics Laboratory Reporting Instructions I. INTRODUCTION This manual provides detailed instructions on the proper reporting of diagnosed birth defects by cytogenetics laboratories. A report is required from cytogenetics laboratories whenever a reportable condition is diagnosed for patients under the age of two years.
    [Show full text]
  • Hereditary Spherocytosis
    Hereditary Spherocytosis o RBC band 3 protein testing is a very sensitive and Indications for Ordering specific test for the diagnosis of hereditary Use to confirm diagnosis of hereditary spherocytosis when spherocytosis hemolytic anemia and spherocytes are present Physiology • RBC band 3 protein is a major structural protein of RBCs Test Description o Reduction in the amount of band 3 fluorescence after Test Methodology binding with EMA correlates with spherocytosis • Red blood cell (RBC) surface protein band 3 staining with Genetics eosin-5-maleimide (EMA) analyzed by flow cytometry Clinical Validation Genes: ANK1, EPB42, SLC4A1, SPTA1, SPTB • Validated against the clinical diagnosis of hereditary Inheritance spherocytosis supported by osmotic fragility and/or • Autosomal dominant: 75% molecular testing • Autosomal recessive: 25% Tests to Consider Penetrance: variable Structure/Function Primary Test • Chromosomal location: 17q21.31 RBC Band 3 Protein Reduction in Hereditary Spherocytosis • Provides structure for the red cell cytoskeleton 2008460 • Use to confirm diagnosis of hereditary spherocytosis Test Interpretation when hemolytic anemia and spherocytes are present Sensitivity/Specificity Related Test • Clinical sensitivity: 93% Osmotic Fragility, Erythrocyte 2002257 • Analytical sensitivity/specificity: unknown • Functional testing of RBC sensitivity to osmotic stress Results Disease Overview • Normal o Normal staining of band 3 protein with EMA does not Prevalence: 1/2,000 in northern Europeans suggest hereditary spherocytosis
    [Show full text]
  • Genetic Disorder
    Genetic disorder Single gene disorder Prevalence of some single gene disorders[citation needed] A single gene disorder is the result of a single mutated gene. Disorder Prevalence (approximate) There are estimated to be over 4000 human diseases caused Autosomal dominant by single gene defects. Single gene disorders can be passed Familial hypercholesterolemia 1 in 500 on to subsequent generations in several ways. Genomic Polycystic kidney disease 1 in 1250 imprinting and uniparental disomy, however, may affect Hereditary spherocytosis 1 in 5,000 inheritance patterns. The divisions between recessive [2] Marfan syndrome 1 in 4,000 and dominant types are not "hard and fast" although the [3] Huntington disease 1 in 15,000 divisions between autosomal and X-linked types are (since Autosomal recessive the latter types are distinguished purely based on 1 in 625 the chromosomal location of Sickle cell anemia the gene). For example, (African Americans) achondroplasia is typically 1 in 2,000 considered a dominant Cystic fibrosis disorder, but children with two (Caucasians) genes for achondroplasia have a severe skeletal disorder that 1 in 3,000 Tay-Sachs disease achondroplasics could be (American Jews) viewed as carriers of. Sickle- cell anemia is also considered a Phenylketonuria 1 in 12,000 recessive condition, but heterozygous carriers have Mucopolysaccharidoses 1 in 25,000 increased immunity to malaria in early childhood, which could Glycogen storage diseases 1 in 50,000 be described as a related [citation needed] dominant condition. Galactosemia
    [Show full text]
  • Blueprint Genetics Comprehensive Hematology and Hereditary Cancer
    Comprehensive Hematology and Hereditary Cancer Panel Test code: HE1401 Is a 348 gene panel that includes assessment of non-coding variants. Is ideal for patients with a clinical suspicion of hematological disorder with genetic predisposition to malignancies. This panel is designed to detect heritable germline mutations and should not be used for the detection of somatic mutations in tumor tissue. Is not recommended for patients suspected to have anemia due to alpha-thalassemia (HBA1 or HBA2). These genes are highly homologous reducing mutation detection rate due to challenges in variant call and difficult to detect mutation profile (deletions and gene-fusions within the homologous genes tandem in the human genome). Is not recommended for patients with a suspicion of severe Hemophilia A if the common inversions are not excluded by previous testing. An intron 22 inversion of the F8 gene is identified in 43%-45% individuals with severe hemophilia A and intron 1 inversion in 2%-5% (GeneReviews NBK1404; PMID:8275087, 8490618, 29296726, 27292088, 22282501, 11756167). This test does not detect reliably these inversions. Is not recommended for patients suspected to have anemia due to alpha-thalassemia (HBA1 or HBA2). These genes are highly homologous reducing mutation detection rate due to challenges in variant call and difficult to detect mutation profile (deletions and gene-fusions within the homologous genes tandem in the human genome). About Comprehensive Hematology and Hereditary Cancer Inherited hematological diseases are a group of blood disorders with variable clinical presentation. Many of them predispose to malignancies and for example patients with inherited bone marrow failure syndromes (Fanconi anemia) have a high risk of developing cancer, either leukemia or solid tumors.
    [Show full text]
  • Blood Lab First Week
    Blood Lab First Week This is a self propelled powerpoint study atlas of blood cells encountered in examination of the peripheral blood smear. It is a requirement of this course that you begin review of these slides with the first day of class in order to familiarize yourself with terms used in describing peripheral blood morphology. Laboratory final exam questions are derived directly from these slides. The content of these slides may duplicate slides (1-37) listed on the Hematopathology Website. You must familiarize yourself with both sets of slides in order to have the best learning opportunity. Before Beginning This Slide Review • Please read the Laboratory information PDF under Laboratory Resources file to learn about – Preparation of a blood smear – How to select an area of the blood smear for review of morphology and how to perform a white blood cell differential – Platelet estimation – RBC morphology descriptors • Anisocytosis • Poikilocytosis • Hypochromia • Polychromatophilia Normal blood smear. Red blood cells display normal orange pink cytoplasm with central pallor 1/3-1/2 the diameter of the red cell. There is mild variation in size (anisocytosis) but no real variation in shape (poikilocytosis). To the left is a lymphocyte. To the right is a typical neutrophil with the usual 3 segmentations of the nucleus. Med. Utah pathology Normal blood: thin area Ref 2 Normal peripheral blood smear. This field is good for exam of cell morphology, although there are a few minor areas of overlap of red cells. Note that most cells are well dispersed and the normal red blood cell central pallor is noted throughout the smear.
    [Show full text]
  • Hereditary Spherocytosis Recent Experience and Current Concepts Ofpathophysiology
    Hereditary Spherocytosis Recent Experience and Current Concepts ofPathophysiology ROBERT D. CROOM III, M.D.* CAMPBELL W. MCMILLAN, M.D.t GEORGE F. SHELDON, M.D.* EUGENE P. ORRINGER, M.D.t Hereditary spherocytosis is a clinically heterogeneous, geneti- From the Departments of Surgery,* Pediatrics,t and cally determined red blood cell membrane disorder resulting in Medicine,f The University of North Carolina School of hemolytic anemia. A deficiency of spectrin, the largest and most Medicine and the North Carolina Memorial Hospital, abundant structural protein of the erythrocyte membrane skel- Chapel Hill, North Carolina eton, results in the formation of spherocytes which lack the strength, durability, and flexibility to withstand the stresses of the circulation. Clinical manifestations of the disease are pri- marily dependent on the severity of hemolysis, which additionally The membrane defect resulting in the shortened sur- results in an increased incidence of pigment gallstones. The like- vival of erythrocytes in HS has been found to be a defi- lihood of cholelithiasis is directly related to patient age and is ciency in spectrin, the largest and most abundant struc- uncommon before 10 years of age. Splenectomy is indicated in tural protein of the red cell membrane skeleton.3'4 virtually every patient. When the disease is diagnosed in early childhood, the risk of overwhelming postsplenectomy sepsis Thought to be responsible for the shape, strength, and makes it advisable to delay splenectomy until after 6 years of reversible deformability of the red cell, the membrane age if possible. At the time of splenectomy, it is important to skeleton provides the flexibility and durability necessary identify and remove any accessory spleens.
    [Show full text]
  • ED368492.Pdf
    DOCUMENT RESUME ED 368 492 PS 6-2 243 AUTHOR Markel, Howard; And Others TITLE The Portable Pediatrician. REPORT NO ISBN-1-56053-007-3 PUB DATE 92 NOTE 407p. AVAILABLE FROMMosby-Year Book, Inc., 11830 Westline Industt.ial Drive, St. Louis, MO 63146 ($35). PUB TYPE Guides Non-Classroom Use (055) Reference Materials Vocabularies/Classifications/Dictionaries (134) Books (010) EDRS PRICE MF01/PC17 Plus Postage. DESCRIPTORS *Adolescents; Child Caregivers; *Child Development; *Child Health; *Children; *Clinical Diagnosis; Health Materials; Health Personnel; *Medical Evaluation; Pediatrics; Reference Materials; Symptoms (Individual Disorders) ABSTRACT This ready reference health guide features 240 major topics that occur regularly in clinical work with children nnd adolescents. It sorts out the information vital to successful management of common health problems and concerns by presentation of tables, charts, lists, criteria for diagnosis, and other useful tips. References on which the entries are based are provided so that the reader can perform a more extensive search on the topic. The entries are arranged in alphabetical order, and include: (1) abdominal pain; (2) anemias;(3) breathholding;(4) bugs;(5) cholesterol, (6) crying,(7) day care,(8) diabetes, (9) ears,(10) eyes; (11) fatigue;(12) fever;(13) genetics;(14) growth;(15) human bites; (16) hypersensitivity; (17) injuries;(18) intoeing; (19) jaundice; (20) joint pain;(21) kidneys; (22) Lyme disease;(23) meningitis; (24) milestones of development;(25) nutrition; (26) parasites; (27) poisoning; (28) quality time;(29) respiratory distress; (30) seizures; (31) sleeping patterns;(32) teeth; (33) urinary tract; (34) vision; (35) wheezing; (36) x-rays;(37) yellow nails; and (38) zoonoses, diseases transmitted by animals.
    [Show full text]
  • Genomic Features Defining Exonic Variants That Modulate Splicing Adam Woolfe1*, James C Mullikin2, Laura Elnitski1*
    Woolfe et al. Genome Biology 2010, 11:R20 http://genomebiology.com/2010/11/2/R20 RESEARCH Open Access Genomic features defining exonic variants that modulate splicing Adam Woolfe1*, James C Mullikin2, Laura Elnitski1* Abstract Background: Single point mutations at both synonymous and non-synonymous positions within exons can have severe effects on gene function through disruption of splicing. Predicting these mutations in silico purely from the genomic sequence is difficult due to an incomplete understanding of the multiple factors that may be responsible. In addition, little is known about which computational prediction approaches, such as those involving exonic splicing enhancers and exonic splicing silencers, are most informative. Results: We assessed the features of single-nucleotide genomic variants verified to cause exon skipping and compared them to a large set of coding SNPs common in the human population, which are likely to have no effect on splicing. Our findings implicate a number of features important for their ability to discriminate splice- affecting variants, including the naturally occurring density of exonic splicing enhancers and exonic splicing silencers of the exon and intronic environment, extensive changes in the number of predicted exonic splicing enhancers and exonic splicing silencers, proximity to the splice junctions and evolutionary constraint of the region surrounding the variant. By extending this approach to additional datasets, we also identified relevant features of variants that cause increased exon inclusion and ectopic splice site activation. Conclusions: We identified a number of features that have statistically significant representation among exonic variants that modulate splicing. These analyses highlight putative mechanisms responsible for splicing outcome and emphasize the role of features important for exon definition.
    [Show full text]
  • Pathology Course
    Pathology Course Kindly Sponsored by: Edited by: Michelle Kunc, Jhia Teh, Sally Barker and Yvonne Tsitsiou 1 Introduction The Medical Education Society (MedED) was established in 2004 by three students who were keen to develop schemes whereby senior students tutor younger ones - ‘peer-to- peer’ learning. It was decided that teaching would be outside the formal curriculum and the topics covered would reflect learning needs identified by members of the society and student body. This year we have coordinated PACES and Pathology revision courses, which are being delivered by past ICSM students. We hope you enjoy our Year 5 events and find their content useful for your revision. We would like to thank all the doctors involved in the production of this guide for their support and for taking time out of the schedules to come back and teach us. We would also like to thank the previous MedED guide editors: • 2016-2017: Daniel Campioni-Norman, Rhys Smith, Helen-Cara Younan and Rebekah Judge • 2017-2018: Charlie Caird, Stephanie EzeKwe, Mohammad Fallaha, Samyukta Sundar • 2018-2019: Sophia von Widekind, Lasith Ranasinghe, Daniel Huddart, Alex Huddart If you have any questions please contact us at [email protected]. Please note: MedED does not represent the ICSM Faculty or Student Union. This guide has been produced by students and the Pathology Course lecturers. We have made every effort to ensure that the following information is accurate and reliable. However, this guide should not be used to replace formal ICSM teaching and education
    [Show full text]
  • Differential Diagnosis of Hereditary Hemolytic Anemias in a Single Multiscreening Test by TGA/Chemometrics
    Electronic Supplementary Material (ESI) for Chemical Communications. This journal is © The Royal Society of Chemistry 2020 Differential diagnosis of hereditary hemolytic anemias in a single multiscreening test by TGA/Chemometrics Roberta Risolutia, Patrizia Caprarib, Giuseppina Gullifaa, Francesco Sorrentinoc, Laura Maffeic , Sara Massimib, Elena Carcassiaand Stefano Materazzia* aDepartment of Chemistry, “Sapienza” University of Rome, p.le A.Moro 5, 00185 Rome Italy b National Centre for the Control and Evaluation of Medicines, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, Italy c Thalassemia Unit, S. Eugenio Hospital, Piazzale dell’Umanesimo 10, 00144 Rome, Italy Results and discussion Hematological characterization Patients were classified by evaluating the characteristic features for hemolytic anemias due to hemoglobinopathies and membrane defects. Table S1 shows the hematological data expressed as mean ± standard deviation (SD) while the comparison among groups was performed by the analysis of variance (ANOVA) followed by the Tukey test to assess significances among classes. The group of HS/HE patients showed a moderate hemolytic anemia with significantly decrease in RBC, Hb and Hct values, and a significant increase in RDW values, in comparison with healthy subjects. The patients were carriers of anomalies of the main erythrocyte membrane proteins such as spectrin, protein Band 3 and protein 4.1.The thalassemia patient group included patients with Thalassemia intermedia and major both transfusion dependent and not transfused, who had a very heterogeneous degree of clinical severity. The hematological parameters were significantly different from those of healthy individuals and HS/HE with a decrease in RBC, Hb, Hct, MCV, and MCH and a significant increase in RDW.
    [Show full text]
  • Hereditary Spherocytosis, Elliptocytosis, and Other Red Cell Membrane Disorders☆
    YBLRE-00309; No of Pages 12 Blood Reviews xxx (2013) xxx–xxx Contents lists available at SciVerse ScienceDirect Blood Reviews journal homepage: www.elsevier.com/locate/blre Review Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders☆ Lydie Da Costa a,b,c,d,⁎, Julie Galimand a,1, Odile Fenneteau a, Narla Mohandas e,2 a AP-HP, Service d'Hématologie Biologique, Hôpital R. Debré, Paris, F-75019, France b Université Paris Diderot, Sorbonne Paris Cité, Paris, F-75010, France c Unité INSERM U773, Faculté de Médecine Bichat-Claude Bernard, Paris, F-75018, France d Laboratoire d'Excellence GR-Ex, France e New York Blood Center, New York, USA article info abstract Available online xxxx Hereditary spherocytosis and elliptocytosis are the two most common inherited red cell membrane disorders resulting from mutations in genes encoding various red cell membrane and skeletal proteins. Red cell membrane, Keywords: a composite structure composed of lipid bilayer linked to spectrin-based membrane skeleton is responsible for Hereditary spherocytosis the unique features of flexibility and mechanical stability of the cell. Defects in various proteins involved in Elliptocytosis linking the lipid bilayer to membrane skeleton result in loss in membrane cohesion leading to surface area loss Pyropoikilocytosis and hereditary spherocytosis while defects in proteins involved in lateral interactions of the spectrin-based skel- Stomatocytosis eton lead to decreased mechanical stability, membrane fragmentation and hereditary elliptocytosis. The disease Red cell membrane Hemolysis severity is primarily dependent on the extent of membrane surface area loss. Both these diseases can be readily diagnosed by various laboratory approaches that include red blood cell cytology, flow cytometry, ektacytometry, electrophoresis of the red cell membrane proteins, and mutational analysis of gene encoding red cell membrane proteins.
    [Show full text]