Gene/Protein Disease Symptom Drug Enzyme Compound
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Leukemia, aplastic anemia, sickle cell anemia, hemophilia, lymphoma, neuroblastoma, rhabdomyosarcoma, renal failure, cystic fibrosis, scoliosis, diabetes, and asthma. These are only a few of the many chronic diseases or handicapping conditions confronting children today. Little attention has been paid to children's emotional reactions to illness and hospitalization, important facets of the healing process. In the first part of this paper, children's characteristic emotional reactions to hospitalization are discussed within a developmental framework. Next, some of the emotional reactions elicited in hospital staff and parents by seriously ill children are discussed. It is hoped that an elucidation of the types of feelings hospitalized children experience, and the kinds of emotional responses they elicit in adult caretakers, can lead to more sensitive and effective child care-giving in hospital settings.
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PMID:Coping with feelings: seriously ill children, their families, and hospital staff. 1026 27

Influenza is one of the most common respiratory diseases. Infections caused by this virus may be very serious and can lead to severe complications. So far, the most effective method of protection against influenza is annual vaccination. The Advisory Committee on Immunisation Practices recommends vaccination against influenza for some groups of people. Unfortunately, in spite of these clear indications, a large number of patients are not vaccinated. This article reviews the current scientific literature on immunological response to influenza vaccination in patients who are at especially high risk for serious post-influenza complications and for whom immunisation against this virus is strongly recommended. Results of studies carried out in Poland and other countries in elderly people, in patients with pulmonary diseases, renal diseases, diabetes mellitus, cancer and haemophilia, and in those with HIV infection are presented. In this review, we focus on the immune response to haemagglutinin. There are some discrepancies between the results of studies carried out by different authors in high risk groups of patients. Some investigations indicated poorer humoral response to influenza vaccine in these groups, while others showed responses comparable to those in healthy individuals. These differences may be explained by differences in types and stages of the chronic diseases, in the treatment and composition of influenza vaccines, and also patients' ages, vaccination history and prevaccination antibody titres. Influenza vaccines are well tolerated in high risk patients, and all adverse reactions are generally mild and similar to those observed in healthy people. Although, in some cases, immunological responses to influenza vaccination measured in the whole study group were poor, there were some individual patients who, after vaccination, developed antihaemaglutinin antibody titres which are considered to give protection against the infection or contribute to a milder course of the disease.
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PMID:Humoral immune response to influenza vaccination in patients from high risk groups. 1092 29

The aim of this study was to investigate the views of General Dental Practitioners (GDPs) regarding their provision of dental treatment for medically compromised children. A questionnaire to assess confidence, experience and willingness to treat eight specific groups of medically compromised children was sent to 524 GDPs. Information is based on 271 completed questionnaires. The median number of children treated by GDPs in each of the eight groups over the previous 5 years was 0-2. Eighty percent of respondents stated that they would value further training in the provision of dental care for medically compromised children. Confidence was highest in providing dental treatment for children with three conditions: congenital heart disease (37% very confident), diabetes (39% very confident) and epilepsy (41% very confident). These were also the conditions that the GDPs reported as presenting most frequently in the dental surgery. GDPs reported least confidence in providing dental care for children with haemophilia (12% very confident) and organ transplants (14% very confident). Only 30% of GDPs wanted to be routinely involved with the provision of dental care for medically compromised children. The results indicate that medically compromised children may have problems accessing dental care and expertise. A system of integrated medical and specialised dental care is suggested.
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PMID:Provision of dental care for medically compromised children in the UK by General Dental Practitioners. 1131 Feb 46

Brazil's financial crisis is threatening its HIV treatment programs, as well as programs for other diseases such as hemophilia, tuberculosis, diabetes, and malaria. The government is expected to stop providing antiretroviral therapy through the public health system in October. Meanwhile, the Argentine government stopped providing antiretroviral medications in August. Drug recycling programs are also discussed. Contact information is provided.
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PMID:Brazil may stop HIV drug access; problems also reported from Argentina. 1136 81

An estimated 40% of children and adolescents with chronic health conditions such as cancer, diabetes, and hemophilia, experience school-related problems. Many children living with a chronic illness do not need or may not qualify for traditional special education programs, yet they may have unmet learning needs associated with chronic absenteeism, disease symptoms, or side effects of medical treatments. Using principles of family-centered schools, a coalition of schools, families, pediatricians, and nurses can work cooperatively to help students with chronic conditions succeed. This article describes the second phase of an ongoing initiative designed to support public schools in their efforts to meet the health and education needs of students with chronic health conditions.
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PMID:The health and education leadership project: a school initiative for children and adolescents with chronic health conditions. 1139 27

Until recently, infectious diseases and malnutrition-related disorders constituted the major cause of ill health and mortality in the world population. However, advances in treatment of such disorders and increased understanding of the molecular basis of heredity have led to genetically transmitted conditions becoming a major cause of morbidity and mortality. Several disorders, including chromosomal (Down syndrome, Turner syndrome), single-gene (sickle-cell disease, thalassaemia, glucose-6-phosphate dehydrogenase deficiency, haemophilia, inborn errors of metabolism) and multifactorial disorders (coronary artery disease, arteriosclerosis, diabetes mellitus, hypertension, obesity) are common and becoming increasingly important. As there is no agreed-upon definitive cure with acceptable risk, these disorders are a significant burden on the health care delivery system. This is because the chronic nature of genetic diseases requires lifelong medical attention, expensive supportive and symptomatic therapy and specialist care. This review outlines the genetic disorders, their impact on health care delivery systems and the general framework required to prevent and control these disorders.
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PMID:Spectrum of genetic disorders and the impact on health care delivery: an introduction. 1192 97

Inhibitors in patients with hemophilia are a rare complication of a rare disease causing pain and disability in patients and impairment to the quality of their lives. Recent advances in treatment have brought improvements, but they have done so by absorbing larger amounts of financial resources. This study involved 52 Italian patients with hemophilia with high-responding inhibitors who were longitudinally observed for 18 months to evaluate concomitantly cost of care and quality of life. Overall, 0.6 bleeding episodes per patient per month were recorded. This frequency of events was lower than that reported in other cohorts of patients with hemophilia who were not taking inhibitors. The average monthly cost of care was, in euros, 18,000 (18,000 US dollars) per patient, mainly because of treatment products. Recombinant activated factor VII, mostly used for orthopedic surgery, represented 50% of the expenses. Quality of life, measured through validated questionnaires, was similar to that of patients with severe hemophilia without inhibitors. In particular, physical quality of life was similar to that in patients with diabetes and on dialysis, whereas mental quality of life was comparable to that in the general population. This study shows that hemophilia complicated by inhibitors, a prototype of rare disease, requires high amounts of resources for management that provides a satisfactory quality of life.
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PMID:Cost of care and quality of life for patients with hemophilia complicated by inhibitors: the COCIS Study Group. 1281 59

Specific features of dilatation tracheostomy (DTS) were studied in 45 patients with hemorrhagic syndrome; 37 of them had thrombocytopenia; 6 patients had thrombocytopenia and disseminated intravascular coagulation (DIC); and 2 patients had congenital coagulopathy. Besides, there were patients, among the examined ones, with hemoblastosis (36), with idiopathic thrombocytopenic purpura (1), with aplastic anemia (1), with HELLP-syndrome (1), with diabetes mellitus (1), with rheumatoid arthritis, with stomach cancer (2) and with hemophilia A (2). Commercial sets were made use of for DTS ("Portex"). DTS can be safely made provided the blood platelets' level is not below 40-50 x 10(9), and the time of bleeding is below 3 min; in hemophilia, the procedure is possible after the administration factor's preparations; and in DIC--after plasma transfusion and after ensuring the normal coagulation. Obturation of lumens of the trachea and bronchi with blood grumes is an often complication in DTS, which makes it necessary to make bronchoscopy immediately after DTS.
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PMID:[Dilatation tracheostomy in patients with hemorrhagic syndrome]. 1291 1

For many genetic diseases, clinical phenotypes arise through the dysfunction of the gene products encoded by mutant genes. Effective treatment entails providing a source of the gene product in the diet or circulation, as has been achieved for type I diabetes and hemophilia, or in cases of enzyme deficiency by supplementation with metabolites synthesized by the defective protein, as in adrenoleukodystrophy. However, a growing list of diseases do not appear to be amenable to such treatment strategies. In these instances, defective gene products acquire novel properties that disrupt normal cell function, even in the presence of proteins encoded by the normal allele. One class of such diseases, collectively termed "conformational diseases," is composed of clinically unrelated disorders that share a common pathophysiology because the mutant proteins cannot adopt stable three-dimensional conformations. These mutant proteins aggregate in various subcellular compartments and may even cause cell death. Some of these diseases are associated with inclusion bodies containing the aggregating proteins whereas others do not exhibit such pathology; however, all appear to activate cell stress signaling pathways. Herein, we highlight one such disorder, Pelizaeus-Merzbacher disease, that disrupts formation of whiter matter in the brain. Accumulation of the mutant protein in oligodendrocytes activates the unfolded protein response. The well-characterized genetics and large number of animal models available for Pelizaeus-Merzbacher disease enables this disease to serve as an important model for conformational diseases, both in terms of defining molecular components of the unfolded protein response signaling pathway as well as testing therapeutic approaches to ameliorate disease.
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PMID:The unfolded protein response in protein aggregating diseases. 1452 54

The immunoprotective nature of the testis has led to numerous investigations for its ability to protect cellular grafts. Sertoli cells (SCs) are at least partially responsible for this immunoprotective environment and survive allogeneic and xenogeneic transplantation. The ability of SCs to survive transplantation leads to the possibility that they could be engineered to deliver therapeutic proteins. As a model to test this hypothesis, we examined the ability of SCs that produce green fluorescent protein (GFP) to survive transplantation and continue expressing GFP. SCs were isolated from transgenic mice engineered to express GFP and transplanted as aggregates under the kidney capsule of severe combined immunodeficient (SCID) and Balb/c mice. Using this paradigm, it was possible to compare the survival of transgenic SCs directly in both immunodeficient and immunocompetent recipients. Fluorescence microscopy of the kidney capsule and immunohistochemistry of the grafts for GFP and GATA-4 revealed the presence of GFP-expressing SCs under the kidney capsule of SCID and Balb/c mice at both 30 and 60 days post-transplantation. In contrast, islets transplanted to Balb/c mice were rejected. Thus, SCs survive transplantation and continue to express GFP raising the possibility that SCs can be engineered using transgenic technology to produce proteins, such as insulin, factor VIII, or dopamine for the treatment of diabetes, hemophilia or Parkinson's disease, respectively.
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PMID:Genetically engineered Sertoli cells are able to survive allogeneic transplantation. 1472 69


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