recurrent germline mutations in the fgfr2 3 genes high mutation frequency paternal skewing and age dependence
Craniosynostoses Molecular Genetics, Principles of Diagnosis, and Treatment ppt
... for linkage Linkage analysis and sequencing of candidate genes led to the determination that Pfeiffer syndrome was due to mutations in FGFR1 and FGFR2 [21–24] Interestingly, the mutation in the ... resulting in a substitution of a histidine for a proline (Pro148His) within the DNA-binding region of the protein This increases the DNA-binding affinity of the protein resulting in enhanced protein ... disease-causing mutations (catalogued in [39 ] and discussed in further detail in Chapters and 7) are gain-offunction, as they increase ligand binding, receptor dimerization, or tyrosine kinase activity Fgfr2...
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Báo cáo hóa học: " Validity and reliability of the Spanish version of the DN4 (Douleur Neuropathique 4 questions) questionnaire for differential diagnosis of pain syndromes associated to a neuropathic or somatic component" docx
... pain in the overall sample Cut-off point in the DN4 questionnaire optimizing the sensitivity and specificity values for discriminating between neuropathic pain and non-neuropathic pain in the ... non-neuropathic pain Cut-off pointpain (excluding patients with mixed pain and central neuropathic pain) andfor discriminating between peripheral Cut-off point in the DN4 questionnaire optimizing the sensitivity ... type of pain All patients gave their written informed consent before entering the study Tables and show the main sociodemographic data and clinical conditions responsible for pain in the study...
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báo cáo hóa học:" Validity and reliability of the Spanish version of the DN4 (Douleur Neuropathique 4 questions) questionnaire for differential diagnosis of pain syndromes associated to a neuropathic or somatic component" pdf
... pain in the overall sample Cut-off point in the DN4 questionnaire optimizing the sensitivity and specificity values for discriminating between neuropathic pain and non-neuropathic pain in the ... non-neuropathic pain Cut-off pointpain (excluding patients with mixed pain and central neuropathic pain) andfor discriminating between peripheral Cut-off point in the DN4 questionnaire optimizing the sensitivity ... type of pain All patients gave their written informed consent before entering the study Tables and show the main sociodemographic data and clinical conditions responsible for pain in the study...
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Syndromes and a Century – Cấu trúc của sự tương phản docx
... Syndromes and a Century nghệ thuật lấy cảnh quay Cách lấy cảnh quay dàn dựng khéo léo nêu bật chủ đề phim, thể tư tưởng người làm phim Cảnh quay tinh tế hấp dẫn người xem nhiêu Trong Syndromes and ... thiếu đạo diễn bố mẹ bác sĩ ông Nếu người xem ý vào cấu trúc thấy phim không theo kiểu cấu trúc ba hồi Hollywood: nảy sinh- cao trào - giải khủng hoảng Do đó, để nhận thông điệp mà đạo diễn kiêm ... thuật xây dựng hình ảnh thông qua lời kể nhân vật Và Syndromes and a Century Apichatpong tác phẩm Có thể thấy, nhân vật Syndromes and a Century kiệm lời có nói kể câu chuyện hài hước nói lời đùa...
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Syndromes and a Century – Cấu trúc của sự tương phản potx
... Syndromes and a Century nghệ thuật lấy cảnh quay Cách lấy cảnh quay dàn dựng khéo léo nêu bật chủ đề phim, thể tư tưởng người làm phim Cảnh quay tinh tế hấp dẫn người xem nhiêu Trong Syndromes and ... thiếu đạo diễn bố mẹ bác sĩ ông Nếu người xem ý vào cấu trúc thấy phim không theo kiểu cấu trúc ba hồi Hollywood: nảy sinh- cao trào - giải khủng hoảng Do đó, để nhận thông điệp mà đạo diễn kiêm ... thuật xây dựng hình ảnh thông qua lời kể nhân vật Và Syndromes and a Century Apichatpong tác phẩm Có thể thấy, nhân vật Syndromes and a Century kiệm lời có nói kể câu chuyện hài hước nói lời đùa...
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Chapter 102. Aplastic Anemia, Myelodysplasia, and Related Bone Marrow Failure Syndromes (Part 1) ppsx
... may appear to evolve into another Many of these syndromes share an immune-mediated mechanism of marrow destruction and some element of genomic instability resulting in a higher rate of malignant ... splenomegaly), and granulocytes (as in the immune leukopenias) Hematopoietic failure syndromes are classified by dominant morphologic features of the bone marrow (Table 102-1) While practical distinction ... While practical distinction among these syndromes usually is clear, they can occur secondary to other diseases, and some processes are so closely related that the diagnosis may be complex Patients...
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Chapter 102. Aplastic Anemia, Myelodysplasia, and Related Bone Marrow Failure Syndromes (Part 2) ppsx
... biphasic, with the major peak in the teens and twenties and a second rise in the elderly Etiology The origins of aplastic anemia have been inferred from several recurring clinical associations (Table ... annually In Thailand and China, rates of five to seven per million have been established In general, men and women are affected with equal frequency, but the age distribution is biphasic, with the ... hemoglobinuria (PNH; Chap 101) and to MDS, and in some cases a clear distinction among these disorders may not be possible Epidemiology The incidence of acquired aplastic anemia in Europe and Israel...
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Chapter 102. Aplastic Anemia, Myelodysplasia, and Related Bone Marrow Failure Syndromes (Part 3) pdf
... Antiprotozoals: quinacrine and chloroquine, mepacrine Nonsteroidal anti-inflammatory drugs (including phenylbutazone, indomethacin, ibuprofen, sulindac, aspirin) Anticonvulsants (hydantoins, carbamazapine, ... anhydrase inhibitors drugs (methimazole, drugs (tolbutamide, (acetazolamide and methazolamide) Antihistamines (cimetidine, chlorpheniramine) D-Penicillamine Estrogens (in pregnancy and in high doses in ... twentyfold increase in risk translates, in a rare disease, to but a handful of drug-induced aplastic anemia cases among hundreds of thousands of exposed persons Table 102 -3 Some Drugs and Chemicals...
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Chapter 102. Aplastic Anemia, Myelodysplasia, and Related Bone Marrow Failure Syndromes (Part 4) pptx
... hyperpigmentation, and the development of aplastic anemia during childhood The X-linked variety is due to mutations in the DKC1 (dyskerin) gene; the more unusual autosomal dominant type is due to mutation in ... Hemoglobinuria An acquired mutation in the PIG-A gene in a hematopoietic stem cell is required for the development of PNH, but PIG-A mutations probably occur commonly in normal individuals If the ... to a mutation in FANCA Most of the Fanconi's anemia gene products form a protein complex that activates FANCD2 by monoubiquitination to play a role in the cellular response to DNA damage and especially...
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Chapter 102. Aplastic Anemia, Myelodysplasia, and Related Bone Marrow Failure Syndromes (Part 5) pdf
... damage and death on exposure to certain chemical agents Telomeres are short in a large proportion of patients with aplastic anemia, and mutations in genes of the telomere repair complex (TERC and ... compounds; these intermediates are toxic because of their propensity to bind to cellular macromolecules For example, derivative hydroquinones and quinolones are responsible for benzene-induced tissue injury ... growth factor production Drug Injury Extrinsic damage to the marrow follows massive physical or chemical insults such as high doses of radiation and toxic chemicals For the more common idiosyncratic...
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Chapter 102. Aplastic Anemia, Myelodysplasia, and Related Bone Marrow Failure Syndromes (Part 6) ppt
... trauma; these will often show bleeding from the cervical os and blood in the stool Pallor of the skin and mucous membranes is common except in the most acute cases or those already transfused Infection ... bleeding in the central nervous system can result in catastrophic intracranial or retinal hemorrhage Symptoms of anemia are also frequent, including lassitude, weakness, shortness of breath, and ... determined features of the immune response can convert a normal physiologic response into a sustained abnormal autoimmune process, including polymorphisms in histocompatibility antigens, cytokine genes, ...
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Chapter 102. Aplastic Anemia, Myelodysplasia, and Related Bone Marrow Failure Syndromes (Part 7) docx
... be determined by CT scanning or ultrasound if the physical examination of the abdomen is unsatisfactory MRI may be helpful to assess the fat content of a few vertebrae in order to distinguish ... blood lines, sometimes showing later progression to more recognizable aplastic anemia The bone marrow in constitutional aplastic anemia is indistinguishable morphologically from the aspirate in acquired ... a leading diagnosis in the pancytopenic adolescent or young adult When pancytopenia is secondary, the primary diagnosis is usually obvious from either history or physical examination: the massive...
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Chapter 102. Aplastic Anemia, Myelodysplasia, and Related Bone Marrow Failure Syndromes (Part 8) potx
... sibling donor is available Increasing age and the severity of neutropenia are the most important factors weighing in the decision between transplant and immunosuppression in adults who have a matched ... transfusion and a leukocyte count adequate to prevent infection) in about 50% of patients The addition of cyclosporine to either ALG or ATG has further increased response rates to about 70% and especially ... Survival using alternative donors is about half that of conventional sibling transplants but improving with higher-resolution HLA matching and more effective conditioning regimens and GVHD prophylaxis...
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Chapter 102. Aplastic Anemia, Myelodysplasia, and Related Bone Marrow Failure Syndromes (Part 9) docx
... survive to benefit from definitive therapy or, having failed treatment, to maintain a reasonable existence in the face of pancytopenia First and most important, infection in the presence of severe ... effective in the treatment of overwhelming or refractory infections in a few patients Hand washing, the single best method of preventing the spread of infection, remains a neglected practice Nonabsorbed ... suppressed either by oral estrogens or nasal folliclestimulating hormone/luteinizing hormone (FSH/LH) antagonists Aspirin and other nonsteroidal anti-inflammatory agents inhibit platelet function and...
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Chapter 102. Aplastic Anemia, Myelodysplasia, and Related Bone Marrow Failure Syndromes (Part 10) pot
... phenytoin, azathioprine, chloramphenicol, procainamide, isoniazid Erythropoietin Idiopathic Clinical Associations and Etiology PRCA has important associations with immune system diseases A small minority ... lupus erythematosus, juvenile rheumatoid arthritis, rheumatoid arthritis Multiple endocrine gland insufficiency Virus Persistent B19 parvovirus, hepatitis, adult T cell leukemia virus, EpsteinBarr ... mechanisms Antibodies to red blood cell precursors are frequently present in the blood, but T cell inhibition is probably the more common immune mechanism Cytotoxic lymphocyte activity restricted...
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Chapter 102. Aplastic Anemia, Myelodysplasia, and Related Bone Marrow Failure Syndromes (Part 11) docx
... individuals, the temporary cessation of red cell production is not clinically apparent, and skin and joint symptoms are mediated by immune complex ... Pathognomonic cells in marrow failure syndromes A Giant pronormoblast, the cytopathic effect of B19 parvovirus infection of the erythroid progenitor cell B Uninuclear megakaryocyte and microblastic ... erythroid precursors typical of the 5q– myelodysplasia syndrome C Ringed sideroblast showing perinuclear iron granules D Tumor cells present on a touch preparation made from the marrow biopsy of a patient...
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Chapter 102. Aplastic Anemia, Myelodysplasia, and Related Bone Marrow Failure Syndromes (Part 12) pot
... 24% Cytope Dysplas Variable nias (2 or ia in ≥10% of clinical course with multilineage lineages) cells in ≥2 Leukem dysplasia (RCMD) lineages No or ia in ~11% rare blasts
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Chapter 102. Aplastic Anemia, Myelodysplasia, and Related Bone Marrow Failure Syndromes (Part 13) doc
... correlate with the probability of leukemic transformation and survival Mutations of N-ras (an oncogene), p 53 and IRF-1 (tumor suppressor genes) , Bcl-2 (an antiapoptotic gene), and others have been ... patients complain of the gradual onset of fatigue and weakness, dyspnea, and pallor, but at least half the patients are asymptomatic and their MDS is discovered only incidentally on routine blood ... tumor suppressor genes, activating oncogene mutations, or other harmful alterations Cytogenetic abnormalities are not random (loss of all or part of 5, 7, and 20, trisomy of 8) and may be related...
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Chapter 102. Aplastic Anemia, Myelodysplasia, and Related Bone Marrow Failure Syndromes (Part 14) potx
... determination, and increase in the number of blasts are all poor prognostic indicators The outlook in therapy-related MDS, regardless of type, is very poor, and most patients will progress within ... blasts and early acute leukemia The World Health Organization considers the presence of 20% blasts in the marrow as the criterion that separates acute myeloid leukemia from MDS Prognosis The median ... 21 30 % Intermediat e-1 0.5– 1.0 Intermediat e-2 1.5– 2.0 High a ≥2.5 Good, normal, -Y, del(5q), del (20q); poor, complex ( 3 abnormalities) or chromosome abnormalities; intermediate, all other...
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Chapter 102. Aplastic Anemia, Myelodysplasia, and Related Bone Marrow Failure Syndromes (Part 15) ppt
... administered orally, 10 mg daily Most patients will improve within months of initiating therapy Toxicities include myelosuppression (worsening thrombocytopenia and neutropenia, necessitating ... and hairy cell leukemia The pathophysiology has three distinct features: proliferation of fibroblasts in the marrow space (myelofibrosis); the extension of hematopoiesis into the long bones and ... neutropenia, necessitating blood count monitoring) and an increased risk of deep vein thrombosis and pulmonary embolism Other treatments for MDS include amifostine, an organic thiophosphonate that blocks...
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