Hereditary diseases

Xem 1-17 trên 17 kết quả Hereditary diseases
  • Tuyển tập các báo cáo nghiên cứu khoa học ngành y học tạp chí Medical Sciences dành cho các bạn sinh viên ngành y tham khảo đề tài: Foundation for the Community Control of Hereditary Diseases, Budapest, Hungary ...

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  • Table 54-14 Causes of Urticaria and Angioedema I. Primary cutaneous disorders A. Acute and chronic urticariaa B. Physical urticaria 1. Dermatographism 2. Solar urticariab 3. Cold urticariab 4. Cholinergic urticariab C. Angioedema (hereditary and acquired)b II. Systemic diseases A. Urticarial vasculitis B. Hepatitis B or C infection C. Serum sickness D. Angioedema (hereditary and acquired) a A small minority develop anaphylaxis. b Also systemic. The common physical urticarias include dermographism, solar urticaria, cold urticaria, and cholinergic urticaria.

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  • Tham khảo sách 'differential diagnosis in internal medicine from symptom to diagnosis_1', y tế - sức khoẻ, y học thường thức phục vụ nhu cầu học tập, nghiên cứu và làm việc hiệu quả

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  • The present book, Differential Diagnosis in Internal Medicine, first appeared as a German edition in 1952 and since then has been translated into 10 other languages. Over the past 50 years 19 German editions have been published, and now the 19th edition of the work, which has become the classic differential diagnosis textbook, is available in English for the first time. This book encompasses differential diagnosis across the spectrum of internal medicine, covering dermatology, neurology, and rheumatology, and provides the very latest knowledge including pathophysiological aspects.

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  • I am pleased to have had the opportunity to present an overview of red cell membranes in normal and disease states with my background of nearly 30 years in this area of research. I believe that this kind of publication on red cell membrane is a very timely summary of all the results obtained by the tremendous efforts worldwide by all of the scientists in this field during the past few decades. As reviewed in Chapter 1, the general concepts of red cell membrane abnormalities and the categories of each red cell membrane disorder are now well established.

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  • Duchenne muscular dystrophy represents one of the most common hereditary diseases. Abnormal ion handling is believed to render dystrophin-deficient muscle fibres more susceptible to necrosis. Although a reduced Ca 2+ buffering capacity has been shown to exist in the dystrophic sarco-plasmic reticulum, surprisingly no changes in the abundance of the main luminal Ca 2+ reservoir protein calsequestrin have been observed inmicrosomal preparations.

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  • Many disorders exhibit the feature of locus heterogeneity, which refers to the fact that mutations in different genes can cause phenotypically similar disorders. For example, osteogenesis imperfecta (Chap. 357), long QT syndrome (Chap. 226), muscular dystrophy (Chap. 382), homocystinuria (Chap. 358), retinitis pigmentosa (Chap. 29), and hereditary predisposition to colon cancer (Chap. 87) or breast cancer (Chap. 86) can each be caused by mutations in distinct genes.

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  • Therapeutic Interventions Based on Genetic Risk for Disease Specific treatments are now available for an increasing number of genetic disorders, whether identified through population-based screening or directed testing (Table 64-2). Although the strategies for therapeutic interventions are best developed for childhood hereditary metabolic diseases, these principles are making their way into the diagnosis and management of adult-onset disorders. Hereditary hemochromatosis illustrates many of the issues raised by the availability of genetic screening in the adult population.

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  • Differential Diagnosis Many of the diseases associated with splenomegaly are listed in Table 60-2. They are grouped according to the presumed basic mechanisms responsible for organ enlargement: 1.

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  • While most autosomal dominant inherited cancer syndromes are due to mutations in tumor-suppressor genes (Table 79-1), there are a few interesting exceptions. Multiple endocrine neoplasia type II, a dominant disorder characterized by pituitary adenomas, medullary carcinoma of the thyroid, and (in some pedigrees) pheochromocytoma, is due to gain-of-function mutations in the protooncogene RET on chromosome 10. Similarly, gain-of-function mutations in the tyrosine kinase domain of the MET oncogene lead to hereditary papillary renal carcinoma.

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  • Etiology and Risk Factors Risk factors for the development of colorectal cancer are listed in Table 874. Table 87-4 Risk Factors for the Development of Colorectal Cancer Diet: Animal fat Hereditary syndromes (autosomal dominant inheritance) Polyposis coli Nonpolyposis syndrome (Lynch syndrome) Inflammatory bowel disease Streptococcus bovis bacteremia Ureterosigmoidostomy ? Tobacco use Diet The etiology for most cases of large-bowel cancer appears to be related to environmental factors. The disease occurs more often in upper socioeconomic populations who live in urban areas.

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  • Isolated microscopic hematuria can be a manifestation of glomerular diseases. The RBCs of glomerular origin are often dysmorphic when examined by phase-contrast microscopy. Irregular shapes of RBCs may also occur due to pH and osmolarity changes produced along the distal nephron. There is, however, significant observer variability in detecting dysmorphic RBCs. The most common etiologies of isolated glomerular hematuria are IgA nephropathy, hereditary nephritis, and thin basement membrane disease. IgA nephropathy and hereditary nephritis can lead to episodic gross hematuria.

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  • Peripheral blood smear from patients with membrane-cytoskeleton abnormalities. A. Hereditary spherocytosis. B. Hereditary elliptocytosis, heterozygote. C. Elliptocytosis, with both alleles of the α-spectrin gene mutated. [From L Luzzatto, in J Gribben and D Pravan (eds): Molecular Hematology, 2d edition. Oxford, Blackwell, 2005; with permission.] Table 101-3 Inherited Diseases of the Red Cell MembraneCytoskeleton Gene Chromoso mal Location Protei n Produced s) Disease( with s Comment Certain Mutations (Inheritance) SPTA1 1q22-q23 αSpectrin HS (recessive) Rare.

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  • Abstract Retinopathy of prematurity (ROP) is a vascular vitreoretinopathy that affects infants with short gestational age and low birth-weight. The condition is a multifactorial disease and is clinically similar to familial exudative vitreoretinopathy (FEVR), which is a bilateral hereditary eye disorder affecting full-term infants. Both of them are characterized by the abnormal vessel growth in the vitreous that can lead to vitreoretinal traction, retinal detachment and other complications resulting in blindness.

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  • We all know only too well that our way of life, the food we eat, smoking, stress or environmental toxins infl uence our health. But we have just started to learn how these environmental factors cooperate with our hereditary genetic dispositions to determine health or the development of diseases. Moreover, we did not know until recently that all these factors may also infl uence the health of our children and grandchildren to whom we may transmit functional changes of our genes.

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  • Friedreich ataxia (FRDA) is a rare hereditary neurodegenerative disease characterized by progressive ataxia and cardiomyopathy. The cause of the disease is a defect in mitochondrial frataxin, an iron chaperone involved in the maturation of Fe–S cluster proteins.

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  • Hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) are the most common hereditary cardiac conditions. Both are frequent causes of sudden death and are often associated with an adverse disease course.Alpha-cardiac actinis one of the disease genes where different mis-sense mutations have been found to cause either HCM or DCM. We have tested the hypothesis that the protein-folding pathway plays a role in dis-ease development for two actin variants associated with DCM and six asso-ciated with HCM....

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