abc of clinical genetics - helen m kingston
abc of clinical genetics - helen m. kingston
... disorderTriploidyTrisomy of chromosome 21Monosomy of X chromosome69 chromosomesDown syndromeTurner syndromeCri du chat syndromeKlinefelter syndromeAssociated withWilms tumourNormal phenotypeInfertility ... continuedacg-03 11/20/01 7:14 PM Page 10 ABC OF CLINICAL GENETICS Helen M Kingston Third edition ABC OF CLINICAL GENETICS THIRD EDITION Kingston Primary CareThis ever popular introduction to clinical genetics ... of the First Yearwww.bmjbooks.comVisit our web site:www.bmjbooks.com ABC OF CLINICAL GENETICS Helen M Kingston 40821 ABC of Clinical Genetics 8/11/01 11:01 AM Page 1Carrier testingTesting...
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Essentials of Clinical Genetics in Nursing Practice potx
... Auto-somal genes are those whose loci are on one of theautosomes (non-sex chromosomes). Each chromo-some of a pair (homologous chromosomes) nor-mally has the identical number of arrangement of genes, ... normal femaleare two X chromosomes (XX). The sex chromo-somes present in the normal male are one X chro-mosome and one Y chromosome (XY). Gametes(ova and sperm) each contain one member of ... A recent example is one type of in-fertility that results from possessing a highpercentage of immotile sperm due to a muta-tion of mtDNA in some men.•The so-called common or complex diseasessuch...
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abc of clinical haematology
... Acute myeloblastic leukaemia with maturation M3 Acute promyelocytic leukaemia M4 Acute myelomonocytic leukaemia M5 Acute monocytic/monoblastic leukaemia M6 Acute erythroleukaemia M7 Acute megakaryoblastic ... evidence of renalimpairment and hyperuricaemia. ABC of Clinical Haematology24Figure 6.2 Blood film of patient with acute myeloid leukaemiaAcute lymphoblastic leukaemia is slightly more commonamong ... leukaemia/lymphoma)Box 6.2 FAB* Classification of acute myeloidleukaemia M0 Acute myeloid leukaemia with minimal evidence of myeloid differentiation M1 Acute myeloblastic leukaemia without maturation M2 ...
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Genetics and Testicular Cancer: Division of Cancer Epidemiology and Genetics Clinical Genetics Branch doc
... but clinically normal, females.R Equally transmitted by men and womenASCO, modified 12/02ASCO, modified 12/02X-Linked Recessive InheritanceCarrier femaleAffected maleNormal maleR The mutated ... affected and unaffected family members, to identify maternal & paternal chromosomes Availability of testable genetic markers from the same chromosome on which the gene of interest is thought ... CCAIsoleucine - Methionine - Serine - Asparagine - ProlineASCO, modified 12/02Disease-Associated Mutations Alter Protein FunctionFunctional proteinNonfunctional or missing protein - deleterious mutationFunctional...
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Báo cáo y học: "Identification of clinical and simple laboratory variables predicting responsible gastrointestinal lesions in patients with iron deficiency anemia"
... 6.4–12.7 1 2-1 4/women 1 4-1 5/men WBC2 (l/mm3) 91 7095 3100–16900 4. 8-1 0.8 Plt3 (x103/mm3) 91 326 74–669 15 0-4 00 Ferritin (ng/ml) 91 7.5 1.38–28 1 0-2 91/women 2 2-3 22/men CRP4 ... source of IDA among men and postmenopausal women is to rule out gastrointestinal tract pathology and a nutritional cause [1 7-1 8, 2 1-2 3]. In pre-menopausal women, iron deficiency anemia is common ... is the most common hematolog-ical disorder encountered in general practice and iron-deficiency anemia is the most frequently cause of anemia worldwide [13]. Blood loss is a major cause of Int....
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Tài liệu BERTRAND RUSSELL ABC OF RELATIVITY docx
... world.Conservation of mass, conservation of momentum, andconservation of energy were the great principles of classicalmechanics. Let us next consider conservation of momentum.The momentum of a body ... proper mass) is a quantity of the same kind as the momentum in a given itmight be called the momentum in the time-direction. Themeasured mass is obtained by multiplying the invariant massby ... contains, not a small mass merely, but asmall mass multiplied by a small time, that is to say, a smallamount of This explains why it is to be expectedthat will prove of fundamental importance in...
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Tài liệu A thesis submitted to The University of Birmingham for the degree of Clinical Psychology Doctorate docx
... My/my dad has gone on a gluten free diet. Completely, because it makes him tired or something. Wheat makes him, it makes him feel tired or something like that. . . But my dad’s now on a complete ... Assessment 4 Information from Peter’s mother 6 Information from Peter’s step-father 8 Information from Peter’s key worker 8 Information from my behavioural observation 9 Behavioural formulation ... themes. 81 “Am I allowed that?” Young people’s experiences of living with Coeliac Disease 93 | Page Well, in, in the house, I m, my mum or I ‘cos like most of the time my mum like tries...
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Tài liệu Guidelines for the appointment of General Practitioners with Special Interests in the Delivery of Clinical Services pdf
... problems.Able to work in amultidisciplinaryteam and use othermembers of theteam.Other competencies will be determined by the activities provided, for example• Able to perform colposcopy examination ... available.Good knowledge of local guidance inrelation to treatment of common STIs.Local management of sexual contactsand partnernotification.Epidemiology andprevalence of STIsand Teenagepregnancy, ... special interest (GPwSI) framework is one of anumber which the Department of Health has commissioned the Royal College of General Practitioners (RCGP) to produce. The frameworks have been writtenfollowing...
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Tài liệu Handbook of Clinical Sexuality for Mental Health Professionals docx
... average level of sexual desire is fora 51-year-old, happily married, lower-middle-class, Greek-American woman? How farwould that go toward solving our problem of determining if a woman’s sexuality ... the meaning and import of sexual functioning were the same for men and women. Just because women are at leastas capable as men of arousal and orgasm doesn’t mean that men and women value themand ... determine whether the patient hasexperienced five or more of nine listed symptoms over a period of 2 consecutive weeks;furthermore, many of the symptoms themselves are defined, or at least exemplified,rather...
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Tài liệu Anomalies and Curiosities of Medicine, by George M. Gould and Walter Lytle Pyle doc
... submitted by theCivil Surgeons of the Bengal Presidencyduring the years 187 0-7 1-7 2."Reform must come from convictionand effort, as in every other case, butmeantime the strong arm of ... amonument bearing an inscriptionrecording the death in child-birth of awoman sixty-two years old. Cachotrelates the case of a woman of fifty-three, who was delivered of a livingchild by means ... a much later period, themenstrual function having beenestablished but a few months prior toconception. All these girls had well-developed pelves, large mammae, andthe general marks of womanhood,...
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