Human congenital diseases

In the last decade, remarkable advances have been made in bone marrow transplantation (BMT), which is now becoming a powerful tool in the treatment of diseases such as leukemia, aplastic anemia, and congenital immunodeficiency. In animal experiments, it has been found that BMT can be used to treat not only systemic autoimmune diseases but also organ-specific autoimmune diseases. In humans, it has recently been shown that rheumatoid arthritis, ulcerative colitis, and Crohn's disease can be successfully treated after BMT.

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Brachygnathia, cardiomegaly and renal hypoplasia syndrome (BCRHS, OMIA 001595–9940) is a previously reported recessively inherited disorder in Australian Poll Merino/Merino sheep. Affected lambs are stillborn with various congenital defects as reflected in the name of the disease, as well as short stature, a short and broad cranium, a small thoracic cavity, thin ribs and brachysternum.

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In both humans and animals, anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) is a rare congenital coronary artery anomaly. In veterinary medicine, ALCAPA is reported to be discovered only during autopsy or necropsy, and diagnostic methods and prognosis remain poorly understood in dogs.

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Brucellosis continues to be a significant yet frequently neglected threat to both human and veterinary health. However, the disease remains a diagnostic challenge for most healthcare settings due to the non-specific clinical findings associated with the disease and relative inexperience of both clinicians and laboratories in the identification of the disease as well as its causative agent.

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Early onset of lung injury is considerable common after cardiac surgery and is associated with increasing in morbidity and mortality, but current clinical predictors for the occurrence of this complication always have limited positive warning value.

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Because ribosomes are ubiquitously required for protein production, it was long assumed that any inherited defect in ribosome manufacture would be embryonically lethal. However, several human congenital diseases have been found to be associated with mutations in ribosome biogenesis factors.

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Palivizumab prophylaxis for the human respiratory syncytial virus (HRSV) has been reported to reduce the risk of hospital admissions related to HRSV in children with congenital heart disease (CHD). These children are at high risk of developing severe lower respiratory tract infection (LRTI) due to HRSV infection.

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Congenital heart disease (CHD) is the most common type of developmental abnormality in humans, and is a leading cause for substantially increased morbidity and mortality in affected individuals. Increasing studies demonstrates a pivotal role of genetic defects in the pathogenesis of CHD, and presently mutations in more than 60 genes have been associated with CHD.

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Congenital heart disease (CHD), the most common form of developmental abnormality in humans, remains a leading cause of morbidity and mortality in neonates. Genetic defects have been recognized as the predominant causes of CHD.

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Bone disorders are a group of varied acute and chronic traumatic, degenerative, malignant or congenital conditions affecting the musculoskeletal system. They are prevalent in society and, with an ageing population, the incidence and impact on the population’s health is growing. Severe persisting pain and limited mobility are the major symptoms of the disorder that impair the quality of life in affected patients. Current therapies only partially treat the disorders, offering management of symptoms, or temporary replacement with inert materials.

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Nevertheless, there remains a need for research and development of housing systems that consider bird well-being, particularly with reference to concerns about restricted movement and lack of outlet for natural behaviour. Further basic and applied research is required to provide factual data on space requirements per bird; stocking density; and size, configuration, and construction of cages and other confinement systems.

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Leukocyte adhesion deficiency II (LAD II) belongs to a group of human congenital diseases in which the interactions of leukocytes with the vascular endothelium are strongly impaired. LAD II is based on a defect in the syn-thesis of fucosylated glycostructures. This leads to an immunodeficiency owing to the absence of functional selectin ligands and to strong psycho-motor defects, as a result of as-yet unknown reasons.

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The department offers a broad selection of educational and research programs. These include infectious and chronic diseases encompassing cardiovascular and cerebrovascular diseases, respiratory diseases, digestive diseases, congenital malformations, cancer, and occupational diseases. Human genetics, statistical epidemiology, social and behavioral studies, health disparities and health outcomes, are of major interest. In addition to coursework, students are required to attend weekly seminars.

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For many years, interest in the prevention of diseases in children was concentrated on improvement of the postnatal environment. However, since the major problems of infectious diseases and nutrition were solved with the help of vaccinations and better feeding regimes, it became clear that new approaches were needed to prevent and treat the disorders and problems we are facing now - problems mainly arising in prenatal life.

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The programme is indebted to the five hundred plus international nurses from twentythree different countries who have worked and studied with us over the last four years at the Oxford Radcliffe Hospitals NHS Trust, the University Hospitals of Leicester NHS Trust and other hospitals. They have tested our new ideas, suggested improvements and shown honesty, courage and a sense of humour throughout. We are particularly grateful to the international nurses who commented on the first drafts of this book....

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I wrote the first edition of this book more than 20 years ago, and the discoveries in genetics since then have been phenomenal. The new knowledge and applications of human genetics to health and to society have made it even more necessary that nurses "think genetically" in their practice and, indeed in their lives. Genetic factors can be responsible in some way for both direct and indirect disease causation; for variation that determines predisposition, susceptibility, and resistance to disease and also for response to therapeutic management.

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National strategies to address cervical cancer prevention and control should be a part of a comprehensive approach that includes prevention with HPV vaccination for young girls, screening and treatment for women diagnosed with precancerous lesions, and treatment and palliative care for women with invasive cervical cancer. In order to have an impact on cervical cancer mortality these programmes must have universal coverage of the targeted population and financing for long-term sustainability.

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In 1902 hemispheric collaboration to deal with yellow fever led to the creation of the Pan American Sanitary Bureau (now called the Pan American Health Organization), which soon became a model for transnational information sharing and health promotion.

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The rationale for the guideline is that whilst growth is documented in a proportion of those receiving renal replacement therapy (published in the UK Renal Registry report) there is scope for improving identification of growth failure in children at an earlier stage. Identification and treatment of nutritional deficiencies and metabolic abnormalities should be aggressively pursued with respect to linear growth. Recombinant human growth hormone (rhGH) should be considered if there is growth failure despite the treatment of nutritional deficiencies and metabolic abnormalities 20 .

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For much of the early history of medicine, the heart was considered to be the most sacred and mystical of all human organs. As a General Pediatrician, I tend to expect that the children I care for will have strong, properly functioning hearts. However, in situations where the heart is congenitally malformed or affected by inflammation or myopathy, it is reassuring and important to have a pediatric cardiologist and cardiac surgeon at my side to help me with decisions about further diagnostic testing and imaging, instituting medical therapy, and assessing the need for surgical intervention....

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