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Sample records for deficiency syndrome aids

  1. Teaching AIDS: A Resource Guide on Acquired Immune Deficiency Syndrome.

    ERIC Educational Resources Information Center

    Quackenbush, Marcia; Sargent, Pamela

    This document is a resource guide designed for teachers, youth leaders, and health educators as a practical and relevant approach to integrating information on Acquired Immune Deficiency Syndrome (AIDS) into their existing courses. The curriculum is written in language appropriate for teenagers, junior college students, and the young adult…

  2. AIDS: Acquired Immune Deficiency Syndrome, Information and Procedural Guidelines for Providing Services to Persons with AIDS/HTLV-III.

    ERIC Educational Resources Information Center

    Montana State Dept. of Health and Environmental Sciences, Helena.

    This manual presents information about the disease, Acquired Immune Deficiency Syndrome (AIDS), and guidelines for service delivery to Montana residents who have been diagnosed with AIDS or related disorders. The first section describes the disease's causes, symptoms, and transmission; risk factors; high-risk populations; prevention suggestions;…

  3. AIDS: Acquired Immune Deficiency Syndrome; Information and Procedural Guidelines for Providing Services to Persons with AIDS/HIV. Revised.

    ERIC Educational Resources Information Center

    Montana State Dept. of Health and Environmental Sciences, Helena. Health Education Bureau.

    This volume consists of updated information to be inserted into a Montana AIDS Project manual on providing services to persons with acquired immune deficiency syndrome/human immunodeficiency virus (AIDS/HIV), originally published in December 1985. The updates are mainly statistics and terminology, along with the addition of several new sections.…

  4. AIDS. Acquired Immune Deficiency Syndrome Curriculum Planning Guidelines: Elementary, Junior High, High School.

    ERIC Educational Resources Information Center

    Montana State Dept. of Public Instruction, Helena.

    The support materials in this guide provide background and content materials for school personnel and others to modify and use in their education programming on Acquired Immune Deficiency Syndrome (AIDS) for K-12 students. The following support materials are included: (1) the U.S. Surgeon General's report on AIDS; (2) digest and reference guide to…

  5. AIDS Instruction about Acquired Immune Deficiency Syndrome in Wisconsin Schools. Bulletin No. 8248.

    ERIC Educational Resources Information Center

    Taff, Laura

    This document provides a comprehensive framework for school districts to follow in developing instruction about Acquired Immune Deficiency Syndrome (AIDS) within kindergarten through 12th grade health education programs. A curriculum progression matrix about AIDS is included. It lists student outcome objectives by grade level in the areas of…

  6. Acquired Immune Deficiency Syndrome, AIDS: A Selected Bibliography of Federal Government Publications. Research Guide 90 104.

    ERIC Educational Resources Information Center

    Alexander, Margaret

    This research guide presents a selected bibliography of federal government publications about the Acquired Immune Deficiency Syndrome (AIDS). These documents are listed in five categories: (1) Bibliographies (7); (2) Congressional Publications (69 hearings and reports); (3) Executive Branch Publications (43 reports); (4) Federal Government…

  7. Acquired immune deficiency syndrome (AIDS)--complications in dental treatment. Report of a case.

    PubMed

    Hurlen, B; Gerner, N W

    1984-04-01

    Acquired immune deficiency syndrome (AIDS) is a new disease which has recently alerted the medical world. AIDS may also concern dental practitioners and oral surgeons who may be the first to suspect impairment of immunity in patients presenting opportunistic oral infections. Extraordinary resistance to treatment of dental infections, such as encountered in a 27-year-old man developing AIDS, could also be a sign of immunodepression. Epidemiological features of AIDS indicate transmissibility, and interim recommendations for prevention of spread correspond to the measures appropriate for hepatitis B.

  8. Acquired immune deficiency syndrome (AIDS) in Brazil. Necropsy findings.

    PubMed

    Michalany, J; Mattos, A L; Michalany, N S; Filie, A C; Montezzo, L C

    1987-01-01

    According to the 15 autopsies performed at the Department of Pathological Anatomy, Escola Paulista de Medicina, São Paulo, Brazil, it was confirmed that acquired immunodeficiency syndrome (AIDS) occurs preferably in young homosexual males, who die in a short period of time of the disease, which leads to a consumptive state verified by cachexia of the cadavers. The most affected organs of this series were the lungs and encephalum, exactly the ones responsible for the immediate cause of death. In this series of autopsies there were 9 types of microorganisms represented by virus, bacteria, fungi, protozoans and two types of tumors, Kaposi's sarcoma and lymphoma of the central nervous system. From the microorganisms, the most frequent was the Cytomegalovirus and, from the tumors, Kaposi's sarcoma. The various types of microorganisms were frequently associated, principally in the central nervous and digestive systems. There was also association of microorganisms with tumors. Besides the lesions produced by microorganisms there were other associated alterations as brown atrophy of neuronia, which was related to the infiltration of cerebral lymphoma, and the lymphocytic depletion of lymphoid organs due to immunological exhaustion. Cellular reaction to microorganisms was practically none, principally with Pneumocystis carinii and Cryptococcus neoformans, the first one behaving as an inert mould in the pulmonary alveoli and the second proliferating freely in tissues. In two cases there was no granulomatous reaction to Mycobacterium tuberculosis. The primary lymphoma of the central nervous system should be interpreted as a microglioma, i.e., a reticulosarcoma of this system according to Hortega's school.

  9. An ongoing tragedy: the acquired immune deficiency syndrome (AIDS).

    PubMed

    Desai, B T

    1989-01-01

    The AIDS epidemic has, to date, had only a minimal impact in India; however, given the low health status of the population and the lack of adequate health care facilities, the emergence of AIDS on a wider scale would be devastating. India's human immunodeficiency virus (HIV) seropositivity rate now stands at about 2-3/1000 people tested. In what is suspected to be a racially motivated move, the Government of India has embarked on testing all foreign students (most of whom are from Africa) for HIV and is returning all those who test seropositive to their countries of origin. Of concern is the steady increase in HIV infection in professional blood donors (1.5/1000 in late 1988). Mandatory screening of donated blood is prohibitively expensive in India, and none of the 9 companies that manufacture blood products in India test their donors for HIV infection. Another concern is the finding that 1 of every 6 prostitutes in Bombay is infected with HIV. The response of the Indian Government to the AIDS threat has tended to be punitive toward AIDS victims rather than based on a sound preventive strategy. For example, the 1989 AIDS Prevention Bill forces individuals who are infected with HIV to reveal their past sexual partners, empowers authorities to hospitalize AIDS victims and drug addicts, and contains no provisions to protect the human and civil rights of AIDS victims. The mass media have treated AIDS in a sensationalized manner rather than presenting scientific information about the prevention and transmission of the disease. It is essential that the Government of India--and all world governments--realize that punitive measures will do little to reduce the spread of AIDS. Needed, instead, is a global prevention and control effort based on generosity and compassion.

  10. AIDS (Acquired Immune Deficiency Syndrome) and Employment Discrimination

    DTIC Science & Technology

    1987-09-30

    Protozoal and helminthic infections 1. Cryptosporidiosis 2. Pneumocystis carinii pneumonia (most common disease in AIDS victims) 3. Strongyloidosis 4...diagnosed with either a rare opportunistic infection (01), or cancer2 typically occurring only in individuals with severely compromised immune systems...disorder of the human immune system leading to enhanced susceptibility to particular opportunistic infections and certain cancers.5 In the immune

  11. Psychological support and counselling for patients with acquired immune deficiency syndrome (AIDS).

    PubMed Central

    Miller, D; Green, J

    1985-01-01

    The growing numbers of patients with the acquired immune deficiency syndrome (AIDS) in England had led to the development of a counselling service for patients, their sexual partners, contacts, and others. The nature of the counselling is described with reference to the primary qualitative issues arising from diagnosis. The necessity for preventative education for patients and those at risk is stressed, and guidelines for low risk sexual activities are outlined. PMID:2991121

  12. Acquired immune deficiency syndrome (AIDS). Hypotheses on the etiology.

    PubMed

    Kelly, T A

    1984-08-01

    AIDS could be caused by a mutant hepatitis B virus or even a prion-like agent. Hepatitis B, as a retro-like virus, might induce cancerous cells, which, like other malignant cells, could produce substances that inhibit macrophages and their activation of T-cells. Hepatitis B, by reverse transcription, might become a provirus in or adjacent to the Ir gene of the major histocompatibility locus (MHC) altering the Ia antigen on macrophages and inhibiting the immune response. A prion could by reverse translation produce a similar effect on the Ir gene or by protein----protein replication create new antigenic proteins which could confuse immune signals from the macrophages to T-cells; create enzymes modifying existing antigenic determinants; and create proteins not recognized as "self" that could initiate a frank, but subtle autoimmune phenomenon. Any one, or an interaction of these events, could create a "negative autoimmunity": the immune system would attack itself.

  13. Pathologic features of the liver in acquired immune deficiency syndrome (AIDS).

    PubMed

    Nakanuma, Y; Liew, C T; Peters, R L; Govindarajan, S

    1986-06-01

    The livers of 26 adult males with acquired immune deficiency syndrome (AIDS) were reviewed. The occurrence of portal tracts with diminished lymphocytes, probably reflecting generalized exhaustion of the lymphoid system, was a characteristic morphologic change, and was found in all cases. Kupffer cell hyperplasia was also a frequent finding and probably reflected generalized infection(s). Punched-out clusters of foamy histiocytes filled with acid-fast bacilli, typical for infection with Mycobacterium avium intracellulare (MAC), were found in three patients. In addition, MAC was cultured from two livers without the foamy histiocytic changes. Chronic viral hepatitis (three cases) and deposition of polarizable materials (one case) in the liver might be related to unusual habits of patients with AIDS. In conclusion, livers from patients with AIDS disclosed several kinds of lesions reflecting underlying or associated conditions in AIDS, but these did not contribute to the cause of death in our patients.

  14. Immunologic studies in asymptomatic hemophilia patients. Relationship to acquired immune deficiency syndrome (AIDS).

    PubMed

    Landay, A; Poon, M C; Abo, T; Stagno, S; Lurie, A; Cooper, M D

    1983-05-01

    Asymptomatic hemophilia patients receiving Factor VIII concentrate were found to have normal natural killer (NK) cells and B cells, and an inverted T helper/suppressor ratio due to an increase in cells of T suppressor phenotype. In contrast, a hemophilia patient with acquired immune deficiency syndrome (AIDS) exhibited nonfunctional NK cells, low B cells, and an inverted T helper/suppressor ratio due to very low numbers of T helper cells. Hemophilia patients on cryoprecipitate therapy exhibited normal immune parameters. A high percentage of hemophilia patients on both treatments had antibody to hepatitis B virus. The isolated finding of elevated levels of T suppressor cells in hemophilia patients receiving Factor VIII concentrate has not been recognized as an early indicator of impending AIDS, and longitudinal studies will be required to determine its clinical significance.

  15. Hepatitis B virus (HBV) DNA in leucocytes in acquired immune deficiency syndrome (AIDS).

    PubMed

    Lie-Injo, L E; Volberding, P; Golden, J A; Herrera, A R

    1985-01-01

    Earlier reported findings of hepatitis B virus (HBV) DNA in white blood cells of patients with hepatoma, and in a patient with autoimmune haemolytic anaemia, led to the examination of HBV DNA in a series of twenty three patients with acquired immune deficiency syndrome (AIDS), including nine with opportunistic infections and fourteen with Kaposi's sarcoma, by Southern blot hybridization method, using 32P labelled HBV DNA specific probe obtained by nick translation of HBV DNA cloned into plasmid pBR325. Four of the patients were found to be positive for HBV DNA or HBV related DNA in their leucocytes. The HBV DNA was found free or integrated in the leucocytes of the patients.

  16. Coping Strategies of Patients with Haemophilia as a Risk Group for AIDS (Acquired Immune Deficiency Syndrome). Brief Research Report.

    ERIC Educational Resources Information Center

    Naji, Simon; And Others

    1986-01-01

    Plans are described for a 2-year project whose major focus is the identification of ways in which patients with hemophilia and their families assimilate, interpret, and act on information about Acquired Immune Deficiency Syndrome (AIDS). Findings will be related to perceived risk, anxiety levels, and the development of coping strategies.…

  17. Clinical and pathologic findings of the liver in the acquired immune deficiency syndrome (AIDS).

    PubMed

    Glasgow, B J; Anders, K; Layfield, L J; Steinsapir, K D; Gitnick, G L; Lewin, K J

    1985-05-01

    Clinical data and histologic sections of the liver, including immunohistochemical studies for hepatitis B surface and core antigens, were reviewed in 42 autopsy cases of the acquired immune deficiency syndrome (AIDS). Hepatomegaly, elevation of serum transaminases, and mild elevation of alkaline phosphatase were commonly observed clinical and biochemical abnormalities. Mildly elevated alkaline phosphatase and normal bilirubin levels were present in patients with Mycobacterium avium-intracellulare (MAI) infection, cytomegalovirus (CMV) infection, and Kaposi's sarcoma (KS). Histologic sections demonstrated liver involvement by MAI in eight cases; KS in six cases; cryptococcus in three cases; and CMV in two cases. One case of MAI infection was associated with marked central vein sclerosis, a finding previously unreported. Thirty-two (76%) of 42 cases had serologic or pathologic evidence of hepatitis exposure. Two patients had histologic evidence of chronic active hepatitis. The pathologic processes involving the liver appeared to be secondary to the infections and neoplasms for which this population is susceptible and did not significantly contribute to morbidity or mortality. No findings specific or pathognomic for AIDS were identified in the liver.

  18. Active viral B hepatitis in parenteral drug abusers with acquired immune deficiency syndrome (AIDS).

    PubMed

    Leevy, C B; Nurse, H; Kapila, R

    1989-01-01

    Eighty-percent of 47 parenteral drug abusers with hepatomegaly and acquired immunodeficiency syndrome had HBV DNA in serum, although only 27% were HBsAg or "e" antigen-positive by polyclonal radioimmunoassay. Liver biopsies from each of 37 HBV DNA seropositive patients showed HBV DNA and were HBcAg-positive. The absence of positive HBsAg and "e" antigen in HBV DNA-positive patients was attributable to the presence of immune complexes; after in vitro dissociation of these complexes there was an increase in HBsAg from 24% to 86%, and of "e" antigen from 19% to 62%. These data indicate that actively replicating hepatitis B virus is common in patients with AIDS, and that precautions should be taken to prevent its dissemination. Therapy in these patients should address both human immunodeficiency and hepatitis B virus infections.

  19. Addiction and sexually transmitted disease (STD), human immunodeficiency virus, (HIV), and acquired immune deficiency syndrome (AIDS): their mutual interactions.

    PubMed

    Adrian, Manuella

    2006-01-01

    We explore the links between substance use, misuse, addiction, and dependency1 and sexuality, sexually transmitted diseases (STD), human immunodeficiency virus (HIV), and acquired immune deficiency syndrome (AIDS) to increase our awareness of their interdependence and to identify new ways to perceive, judge, and intervene (or not to) with associated problems. We consider the sociocultural and economic context in which these behaviors occur; the impact these behaviors have on one another; the personal opinions and attitudes; the religious, moral, or political beliefs and agendas; the physiological and fiscal constraints; and theories of rational decision-making and psychological motivation that act to increase or reduce the incidence of these behaviors and their sequellae, while hindering or facilitating prevention, harm reduction, and treatment interventions. Mechanisms of epidemic spread of STDS/HIV/AIDS are presented in the Appendix. Each of these terms are loaded "container concepts" that are culture-bound and stakeholder-driven and whose dimensions are less than consensus-based. They represent a range of meanings, uses, and misuses in an ongoing politicalized area of human and systemic functioning and adaptations.

  20. Gallium scans of the thorax in patients with acquired immune deficiency syndrome (AIDS): Description and utilization

    SciTech Connect

    Le, G.; Chen, D.C.P.; Siegel, M.E.

    1984-01-01

    The pattern of distribution of gallium uptake in the thorax was investigated in patients (pts) with AIDS. Eleven pts (ages 18-53), all active homosexual males suspected of having acute pulmonary infection were studied. Ga lung scans were performed at 24-48 and/or 72 hrs. post injection. The diagnosis of AIDS was based on appropriate clinical and laboratory findings. The Ga activity in the lung was graded from zero = background to 4+ which is > liver activity. Eight of eleven pts have positive Ga scan while seven of eleven pts had positive CXR. Six pts had both positive CXR and Ga scan. One pt had a positive Ga scan with negative CXR, and one with positive CXR and negative Ga scan. The positive Ga scans included 3 pts with 4+ diffuse uptake, two pts with 2+ diffuse uptake, two pts with 1+ diffuse uptake, and two with hilar node uptake. Three pts have focal increased uptake superimposed on diffuse uptake. Two pts with 4+ diffuse uptake had mild abnormality on their CXR. One pt with 4+ uptake in the initial scan shows decreased activity on follow-up with clinical improvement after therapy. Thus, all but two pts with positive Ga scans had diffuse lung uptake. These two patients alone had B cell immunoblastic sarcoma and oral candidiasis. The pattern of Ga lung uptake in pts with AIDS reveal that a majority of positive scans are diffuse (6/8) and the intensity may suggest more active disease than CXR (2 normal) and, thus, the study may be useful in detecting changes from atypical pulmonary infection in this population.

  1. Communication and education as vaccine against the spread of acquired immune deficiency syndrome (AIDS) in Africa.

    PubMed

    Soola, E O

    1991-01-01

    Attention is focused on the segmentation of the audience (urban, rural, urban slum) and messages, and on how appropriate communication and educational strategies can be adopted to create awareness of AIDS among the African population. It is important to determine the scope, nature, and content of the message in addition to the delivery of these messages through proper channels. Channels of communication vary in reach and influence, and different segments of the population vary in the capacity to absorb information. Rural people are considered susceptible because of their penchant for continually using injections for treatment of any ailment; the source of concern is unsterilized needles and syringes. The semantics of AIDs is discussed to emphasize the problem of how to identify AIDs among the multiplicity of languages in individual countries. For instance, in Nigeria there may be 150-400 languages, and these languages lack systematically developed metalanguage and specialized vocabularies. The view that local language use must be one way, linear is accepted, and the difficulties surmounted. Local languages may be used to transmit information of a nontechnical nature. The literate minority should have access to detailed information on causes, modes of transmission, symptoms, treatment or management, but not everyone needs this extent of detail. The rural and urban residents should know about the incurability of the disease, the mode of transmission, its symptoms, and what should be done if someone is suspected of having an HIV infection. Already the Hausa of Nigeria have a term for AIDs, Karya-Garkuwa, which suggests a disease that breaks down the mechanism of the biological functioning of the body. Communicators must be knowledgeable and able to effectively transmit facts not myths. Of the 3 modes of transmission (sex, blood, mother to child), sexual transmission is the most important. Blood routes are through transfusions, contaminated blood products for

  2. Induction of antibody to asialo GM1 by spermatozoa and its occurrence in the sera of homosexual men with the acquired immune deficiency syndrome (AIDS).

    PubMed Central

    Witkin, S S; Sonnabend, J; Richards, J M; Purtilo, D T

    1983-01-01

    Compared to healthy homosexual and heterosexual men, homosexual men with acquired immune deficiency syndrome (AIDS) possessed significantly higher levels of IgG antibody to the neutral glycolipid asialo GM1 (ganglio-N-tetraosylceramide) (P less than 0.01). Of 31 homosexuals with AIDS, 36% possessed levels of this antibody that were at least two standard deviations above the mean of the healthy men. Furthermore, asialo GM1 antibody could be removed from serum by adsorption with spermatozoa. Weekly rectal insemination of male rabbits with rabbit semen also led to the appearance of antibody to asialo GM1 by 15 weeks. These results suggest that asialo GM1 is a component of ejaculated spermatozoa and demonstrate that rectal insemination by itself can lead to the production of antibodies to this glycolipid in the rabbit. In addition, asialo GM1 antibodies may be of value as a serological marker for the early detection of individuals with AIDS. PMID:6652964

  3. Rhodoccocus Equi Pneumonia and Paradoxical Immune Reconstitution Inflammatory Syndrome in a Patient with Acquired Immune Deficiency Syndrome (AIDS)

    PubMed Central

    Zijoo, Ritika; Dirweesh, Ahmed; Karabulut, Nigahus

    2017-01-01

    Patient: Male, 47 Final Diagnosis: Rhodococcus equi pneumonia • paradoxical immune reconstitution inflammatory syndrome Symptoms: Cough • fever • shorthness of breath Medication: — Clinical Procedure: — Specialty: Infectious Diseases Objective: Rare co-existance of disease or pathology Background: Pulmonary infections are a major cause of mortality and morbidity in patients infected with human immunodeficiency virus (HIV) and can progress rapidly to respiratory failure and death without appropriate therapy. Herein, we present a rare case of an advanced HIV infection and Rhodoccocus equi (R. equi) pneumonia in a young male who had severe paradoxical immune reconstitution inflammatory syndrome (IRIS). Case Report: A 47-year-old nonsmoking Hispanic man with advanced HIV infection presented with severe acute necrotizing pneumonia secondary to R. equi. Although his initial response to antimicrobial therapy was optimal, he became symptomatic again in spite of continuation of antibiotics as he developed severe paradoxical IRIS 3 weeks after starting a new highly active anti-retroviral therapy (HAART). Conclusions: The diagnosis of IRIS remains challenging because of the wide variations in the clinical presentation and etiologies. In spite of its rarity as an opportunistic pathogen, we recommend that R. equi, an intracellular pathogen, be included in the differential list of pathogens associated with IRIS. PMID:28100903

  4. Acquired Immune Deficiency Syndrome (AIDS) and the Veterans' Administration. Hearing before the Subcommittee on Hospitals and Health Care of the Committee on Veterans' Affairs. House of Representatives, One Hundredth Congress, First Session.

    ERIC Educational Resources Information Center

    Congress of the U.S., Washington, DC. House Committee on Veterans' Affairs.

    This document presents witness testimony and prepared statements from the Congressional hearing called to examine the issue of acquired immune deficiency syndrome (AIDS) and the role of the Veterans' Administration (VA) in combating AIDS. Opening statements are included from Representatives G. V. Montgomery, J. Roy Rowland, Joseph P. Kennedy, II,…

  5. A Case of Mycobacterium riyadhense in an Acquired Immune Deficiency Syndrome (AIDS) Patient with a Suspected Paradoxical Response to Antituberculosis Therapy

    PubMed Central

    Badreddine, Samar Assem

    2016-01-01

    A 30-year-old male patient with acquired immune deficiency syndrome (AIDS) on highly active antiretroviral therapy (HAART) presented with clinical picture suggestive of pulmonary tuberculosis. He was commenced on antituberculosis therapy (ATT) with signs of improvement. Then he developed cervical lymph node abscess which was drained. Steroid was started for presumed paradoxical response to ATT which results in clinical regression. The culture result revealed Mycobacterium riyadhense. This report addresses the rarity of this bacteria in medical literature. It reviews clinical presentations and medical treatment particularly in the setting of coinfections. PMID:27703819

  6. AIDS: acquired immunodeficiency syndrome.

    PubMed Central

    Gilmore, N. J.; Beaulieu, R.; Steben, M.; Laverdière, M.

    1983-01-01

    Acquired immunodeficiency syndrome, or AIDS, is a new illness that occurs in previously healthy individuals. It is characterized by immunodeficiency, opportunistic infections and unusual malignant diseases. Life-threatening single or multiple infections with viruses, mycobacteria, fungi or protozoa are common. A rare neoplasm, Kaposi's sarcoma, has developed in approximately one third of patients with AIDS. More than 800 cases of AIDS have been reported in North America, over 24 of them in Canada. The majority of patients are male homosexuals, although AIDS has also developed in abusers of intravenously administered drugs, Haitian immigrants, individuals with hemophilia, recipients of blood transfusions, prostitutes, and infants, spouses and partners of patients with AIDS. The cause of AIDS is unknown, but the features are consistent with an infectious process. Early diagnosis can be difficult owing to the nonspecific symptoms and signs of the infections and malignant diseases. Therefore, vigilance by physicians is of utmost importance. PMID:6342737

  7. AIDS: acquired immunodeficiency syndrome *

    PubMed Central

    Gilmore, N.J.; Beaulieu, R.; Steben, M.; Laverdière, M.

    1992-01-01

    Acquired immunodeficiency syndrome, or AIDS, is a new illness that occurs in previously healthy individuals. It is characterized by immunodeficiency, opportunistic infections and unusual malignant diseases. Life-threatening single or multiple infections with viruses, mycobacteria, fungi or protozoa are common. A rare neoplasm, Kaposi's sarcoma, has developed in approximately one third of patients with AIDS. More than 800 cases of AIDS have been reported in North America, over 24 of them in Canada. The majority of patients are male homosexuals, although AIDS has also developed in abusers of intravenously administered drugs, Haitian immigrants, individuals with hemophilia, recipients of blood transfusions, prostitutes, and infants, spouses and partners of patients with AIDS. The cause of AIDS is unknown, but the features are consistent with an infectious process. Early diagnosis can be difficult owing to the nonspecific symptoms and signs of the infections and malignant diseases. Therefore, vigilance by physicians is of the utmost importance. PMID:1544049

  8. AIDS Federal Policy Act of 1987. Hearings on S. 1575: To Amend the Public Health Service Act To Establish a Grant Program To Provide for Counseling and Testing Services Relating to Acquired Immune Deficiency Syndrome and To Establish Certain Prohibitions for the Purpose of Protecting Individuals with Acquired Immune Deficiency Syndrome or Related Conditions. Committee on Labor and Human Resources. United States Senate, One Hundredth Congress, First Session.

    ERIC Educational Resources Information Center

    Congress of the U.S., Washington, DC. Senate Committee on Labor and Human Resources.

    This document presents the text from two Senate hearings on the AIDS Federal Policy Act of 1987 which concerns voluntary testing for AIDS virus, education and counseling to stop the spread of AIDS (Acquired Immune Deficiency Syndrome), and confidentiality and discrimination against AIDS victims. In the first hearing, opening statements are…

  9. Genetics Home Reference: dopamine transporter deficiency syndrome

    MedlinePlus

    ... Genetics Home Health Conditions dopamine transporter deficiency syndrome dopamine transporter deficiency syndrome Enable Javascript to view the ... boxes. Download PDF Open All Close All Description Dopamine transporter deficiency syndrome is a rare movement disorder. ...

  10. Progressive multifocal leukoencephalopathy occurring with the acquired immune deficiency syndrome.

    PubMed

    England, J D; Hsu, C Y; Garen, P D; Goust, J M; Biggs, P J

    1984-08-01

    A 33-year-old homosexual man with symptoms and signs of a focal brain process was subsequently found to have an acquired immune deficiency syndrome (AIDS) with biopsy-proven progressive multifocal leukoencephalopathy. This report reemphasizes the association of progressive multifocal leukoencephalopathy with AIDS and probably is best viewed as another example of an opportunistic CNS infection complicating deficient cell-mediated immunity.

  11. Human Immunodeficiency Virus/Acquired Immune Deficiency Syndrome (HIV/AIDS) Content in Introduction to Exceptionalities Textbooks.

    ERIC Educational Resources Information Center

    Foulk, David; Gessner, Linda J.; Koorland, Mark A.

    2001-01-01

    Examined textbooks used in introductory courses for teachers preparing to work with students with disabilities, determining the extent of HIV/AIDS content in five categories (e.g., individualized education plans and program planning, prevention and transmission of HIV/AIDS, drug abuse prevention, and prevalence and background information about…

  12. Sexually Transmitted Infections Among Hospitalized Patients With Human Immunodeficiency Virus Infection and Acquired Immune Deficiency Syndrome (HIV/AIDS) in Zahedan, Southeastern Iran

    PubMed Central

    Hashemi-Shahri, Seyed Mohammad; Sharifi-Mood, Batool; Kouhpayeh, Hamid-Reza; Moazen, Javad; Farrokhian, Mohsen; Salehi, Masoud

    2016-01-01

    Background Studies show that nearly 40 million people are living with human immunodeficiency virus infection and acquired immune deficiency syndrome (HIV/AIDS) around the world and since the beginning of the epidemic, about 35 million have died from AIDS. Heterosexual intercourse is the most common route for transmission of HIV infection (85%). People with a sexually transmitted infection (STI), such as syphilis, genital herpes, chancroid, or bacterial vaginosis, are more likely to obtain HIV infection during sex. On the other hand, a patient with HIV can acquire other infections such as hepatitis C virus (HCV) and hepatitis B virus (HBV) and also STIs. Co-infections and co-morbidities can affect the treatment route of patients with HIV/AIDs. Sometimes, physicians should treat these infections before treating the HIV infection. Therefore, it is important to identify co-infection or comorbidity in patients with HIV/AIDS. Objectives This study was conducted in order to understand the prevalence of HIV/AIDS/STI co-infection. Patients and Methods In this cross-sectional study, we evaluated all HIV/AIDS patients who were admitted to the infectious wards of Boo-Ali hospital (Southeastern Iran) between March 2000 and January 2015. All HIV/AIDS patients were studied for sexually transmitted infections (STI) such as syphilis, gonorrhea, hepatitis B virus (HBV) and genital herpes. A questionnaire including data on age, sex, job, history of vaccination against HBV, hepatitis B surface antigen (HBsAg), hepatitis B core antibody (anti-HBc), hepatitis B surface antigen (anti-HBs), HCV-Ab, venereal disease research laboratory (VDRL) test, fluorescent treponemal antibody absorption (FTA-Abs) test, and urine culture was designed. Data was analyzed by the Chi square test and P values of < 0.05 were considered significant. Results Among the 41 patients with HIV/AIDS (11 females and 30 males; with age range of 18 to 69 years) five cases (12.1%) had a positive test (1:8 or more) for

  13. Increase of the prevalence of hepatitis B virus surface antigen related to immunodeficiency inherent in acquired immune deficiency syndrome (AIDS).

    PubMed

    Ouattara, S A; Meite, M; Aron, Y; Akran, V; Gody, M; Manlan, L K; de-The, G

    1990-01-01

    During the period from January to December 1987, 2,191 serum samples were collected from different groups of the population in the Ivory Coast (1,126 healthy people selected from the general population, 416 blood donors, 112 healthy anti-HIV carriers, 173 AIDS patients, and 364 patients suffering from icterigenic hepatitis) and tested for anti-HIV (HIV-1 and HIV-2) antibodies, HBsAg, HBeAg, delta antigen (HDAg), and anti-delta (anti-HD) antibody. Anti-HIV antibodies were found in 30 (2.6%) of the general population. 55 (13.2%) blood donors, and 93 (25.5%) patients suffering from icterigenic hepatitis. HBsAg was observed in 103 (9.1%) of the general population, 45 (10.8%) blood donors, 15 (13.4%) healthy anti-HIV carriers, 59 (34.1%) AIDS patients, and 45 (40%) icterigenous hepatitis patients. The simultaneous presence of anti-HIV and HBsAg was noted in 4 (0.4%) of the general population, 8 (2%) blood donors, 15 (13.4%) healthy anti-HIV carriers, 59 (34.1%) AIDS cases, and 36 (10%) patients suffering from icterigenic hepatitis. A high prevalence of HBeAg and serological markers of infection by the delta agent were noted in the different groups. HDAg was noted only among AIDS patients or those suffering from icterigenic hepatitis, with a higher frequency among anti-HIV carriers. Our conclusion from this study is that healthy anti-HIV carriers are no more likely to be HBsAg carriers than the HIV-seronegative subjects. However, immunodeficiency induced previously by HIV infection is likely to be responsible for the high prevalence of HBsAg among AIDS patients.

  14. Acquired immune deficiency syndrome: review.

    PubMed

    Scully, C; Cawson, R A; Porter, S R

    1986-07-19

    Acquired immunodeficiency syndrome (AIDS) is reviewed for dental practitioners, with an emphasis on oral findings; the clinical course, diagnosis, reporting, treatment, prognosis, transmission, and epidemiology are also covered. HIV infection has an incubation period that may be associated with glandular fever, a prodrome called AIDS-Related Complex (ARC) characterized by lymphadenopathy, low fever, weight loss, night sweats, diarrhea, oral candidosis, nonproductive cough and recurrent infections. AIDS is characterized by opportunistic infections. Over 50% present with pneumocystis carinii pneumonia, 21% with Kaposi's sarcoma, and 6% have both. The AIDS virus causes direct neurological symptoms in some cases. Oral candidosis (thrush) in a young male without a local cause such as xerostomia or immune suppression is strongly suggestive of AIDS. Other oral manifestations are severe herpes simplex, varicella-zoster, Epstein-Barr virus, cytomegalovirus, venereal warts, aphthous ulceration, mycobacterial oral ulcers, oral histoplasmosis, sinusitis and osteomyelitis of the jaw. Hairy leukoplakia, usually seen on the lateral border of the tongue, is probably caused by Epstein-Barr virus. Kaposi's sarcoma, an endothelial cell tumor, is characteristic of AIDS, and in 50% of patients is oral or perioral. Cervical lymph node enlargement will be seen in those with ARC as well as AIDS. No guidelines have been issued by the Department of Health and Social Security for dental surgeons in the UK for reporting AIDS cases. Although HIV virions have been isolated from saliva, there are no known incidents of transmission via saliva. HIV is less likely to be transmitted by needle stick injuries than, for example hepatitis B (25% risk), especially if the blood is from a carrier rather than a full blown AIDS case.

  15. Searching for the cause of the acquired immune deficiency syndrome.

    PubMed

    Leavitt, R D

    1984-02-01

    An outbreak of unexplained immune deficiency associated with opportunistic infection and Kaposi's sarcoma is occurring in the USA and other parts of the world. Affected individuals with what had come to be known as the acquired immune deficiency syndrome (AIDS) have a high mortality. Epidemiological features suggest the presence of a transmissable agent, but no responsible agent has yet been identified. Homosexual and bisexual men make up 75% of these affected individuals. Cytomegalovirus, Epstein Barr and herpes simplex viruses, organisms that commonly affect male homosexuals, may produce some features of AIDS. Individually or collectively, however, they can not account for the emergence of a previously unrecognized clinical syndrome. Hepatitis B is prevalent in patients with AIDS and may play a role as a co-factor in the disease. The properties of a number of other known viruses may provide a model for the pathogenesis of some features of the AIDS immunodeficiency. Newly described simian acquired immune deficiency syndrome (SAIDS) is the best available animal model. In man, the retrovirus, human T-cell leukemia virus (HTLV) may play a role in AIDS. However, HTLV or any other known virus cannot yet be assumed to cause AIDS. It is likely that an as yet unrecognized agent is the key causative agent of AIDS.

  16. Cryptosporidiosis in the acquired immune deficiency syndrome.

    PubMed

    Cooper, D A; Wodak, A; Marriot, D J; Harkness, J L; Ralston, M; Hill, A; Penny, R

    1984-10-01

    Cryptosporidiosis was found in a patient with the acquired immune deficiency syndrome. The microbiological and morphological features of this newly recognized opportunistic infection are distinctive and diagnostic.

  17. Thymic deficiency in Down's syndrome.

    PubMed

    Levin, S; Schlesinger, M; Handzel, Z; Hahn, T; Altman, Y; Czernobilsky, B; Boss, J

    1979-01-01

    Children with Down's syndrome (DS) often have small and abnormal thymuses, with lymphocyte depletion, diminution of the cortex, and loss of corticomedullary demarcation--a picture resembling thymic involution. Besides this, they have markedly enlarged Hassall's corpuscles, some surrounded by a sheath of lymphocytes. Patients with DS are known to have increased numbers of respiratory infections; they also have a higher incidence of lymphatic leukemia than do individuals who do not have DS. Studies of cell-mediated (thymic-dependent) immunity demonstrate that children with DS have both diminished numbers of T cells as well as functional deficiency of these cells.

  18. Iron Deficiency in Autism and Asperger Syndrome.

    ERIC Educational Resources Information Center

    Latif, A.; Heinz, P.; Cook, R.

    2002-01-01

    Retrospective analysis of the full blood count and, when available, serum ferritin measurements of 96 children (52 with autism and 44 with Asperger syndrome) found six autistic children had iron deficiency and 12 of the 23 autistic children with serum ferritin measures were iron deficient. Far fewer Asperger children were iron deficient. Results…

  19. The incidence of acquired immune deficiency syndrome (AIDS) and tuberculosis (TB) in the Hospital "La Fe" of Valencia, Spain (1985-1989).

    PubMed

    Morales, M M; Llopis, A; Ballester, M L; Sanjuan, L

    1993-05-01

    We studied the incidence of TB and TB-AIDS in the area served by "La Fe" hospital in Valencia. We also studied the different evolution of the incidence of TB and TB-AIDS during the 1985-1989 period. We noticed the progressive increase of the incidence of TB in AIDS patients, while the incidence of TB without AIDS remained the same.

  20. Platelet storage pool deficiency in Jacobsen syndrome.

    PubMed

    White, James G

    2007-11-01

    Jacobsen syndrome and Paris-Trousseau Syndrome share similar congenital anomalies, thrombocytopenia, giant platelet alpha granules resulting from fusion of smaller organelles, and an 11q terminal deletion at 11q23.3. Similarities in the two cohorts have suggested that the Paris-Trousseau Syndrome is a variant of Jacobsen syndrome, or the same disorder. The present study has pointed out a significant difference between the two syndromes. Platelets from six patients with Jacobsen syndrome were markedly diminished in serotonin adenine nucleotide rich dense bodies, indicating the presence of platelet storage pool deficiency. Since platelet dense bodies are reported to be normal in size, number and distribution in the Paris-Trousseau Syndrome, the presence of platelet storage pool deficiency in six patients evaluated in the present study may distinguish the two disorders.

  1. AIDS (image)

    MedlinePlus

    AIDS (acquired immune deficiency syndrome) is caused by HIV (human immunodeficiency virus), and is a syndrome that ... life-threatening illnesses. There is no cure for AIDS, but treatment with antiviral medicine can suppress symptoms. ...

  2. [Diagnosis and treatment of major protozoal infections among acquired immune deficiency syndrome patients].

    PubMed

    Shen, Yin-Zhong; Lu, Hong-Zhou

    2008-04-01

    Protozoal infection is one of the most important opportunistic infections among patients with acquired immune deficiency syndrome (AIDS). In order to enhance the knowledge of protozoal infections in AIDS, the current status of diagnosis and treatment of toxoplasmic encephalitis, cryptosporidiosis, microsporidiosis and isosporiasis was reviewed in this paper.

  3. Acquired Immune Deficiency Syndrome: A Preliminary Examination of the Effects on Gay Couples and Coupling.

    ERIC Educational Resources Information Center

    Carl, Douglas

    1986-01-01

    The Acquired Immune Deficiency Syndrome (AIDS) epidemic significantly influences attitudes about life and lifestyles. Homosexuals have to give increased consideration to coupling, the nature of coupled relationships, sex and intimacy, and death long before the normal time. Discusses impact of AIDS on the early stages of gay coupling and on the…

  4. Monocyte function in the acquired immune deficiency syndrome. Defective chemotaxis.

    PubMed Central

    Smith, P D; Ohura, K; Masur, H; Lane, H C; Fauci, A S; Wahl, S M

    1984-01-01

    The ineffective immune response in patients with the acquired immune deficiency syndrome (AIDS) contributes to severe and widespread infections and unrestricted growth by certain tumors. To determine whether monocyte dysfunction contributes to this immunosuppressed condition, we investigated monocyte chemotaxis in patients with AIDS. Using three different chemotactic stimuli, N-formylmethionylleucylphenylalanine, lymphocyte-derived chemotactic factor, and C5a des Arg, we studied the chemotactic responses of monocytes from seven homosexual men with AIDS, three homosexuals with lymphadenopathy and an abnormal immunological profile, seven healthy homosexual men, and 23 heterosexual control individuals. Monocytes from each of the AIDS patients with Kaposi's sarcoma and/or opportunistic infection exhibited a marked reduction in chemotaxis to all stimuli compared with the healthy control subjects. The reduced chemotactic responses were observed over a wide range of concentrations for each stimulus. Monocytes from AIDS patients who had clinically apparent opportunistic infection(s) exhibited a greater reduction in monocyte migration to all three stimuli than monocytes from the AIDS patient with only Kaposi's sarcoma. Monocytes from each of three homosexuals with lymphadenopathy and an abnormal immunological profile exhibited decreased chemotactic responses that were intermediate between those of the AIDS patients and the healthy heterosexual control subjects. In contrast to these findings, monocytes from each of seven healthy homosexuals exhibited normal chemotactic responses to the same stimuli. In addition, monocytes from AIDS patients exhibited reduced chemotaxis to soluble products of Giardia lamblia, one of several protozoan parasites prevalent in AIDS patients. Thus the immune abnormality in AIDS, previously thought to involve only the T-, B-, and natural killer lymphocytes, extends to the monocyte-macrophage. Defective monocyte migratory function may contribute to

  5. Recapitulation of acquired immuno deficiency syndrome associated Kaposi's sarcoma

    PubMed Central

    Govindan, Balaji

    2016-01-01

    Acquired immuno deficiency syndrome (AIDS) associated Kaposi's sarcoma (KS) is one of the clinical forms of KS. KS is caused by human herpes viruses 8 or KS associated herpes virus (KSHV). In India, till now, only 16 cases of AIDS associated KS was reported. Of all the clinical forms of KS, AIDS associated KS is distinct in many ways viz.; cutaneous manifestations commonly affects face and trunk rather than lower limbs, more mucosal lesions, rapidly progressive, and early systemic involvement. When human immunodeficiency virus (HIV) is co-infected with KSHV, in addition to the other pathogenic factors for the development of KS, HIV Tat protein promotes the proliferation of cytokine-activated endothelial cells and stimulates KS. Moreover, actions of HIV Tat lead to the aggressive course of KS in patients with AIDS, compared with the more confined behavior of KS in HIV-negative persons. Similarly, latency-associated nuclear antigen of KSHV would enhance HIV replication by activating the long terminal repeats of HIV-1 through its association with Tat. Effective antiretroviral treatment in AIDS associated KS results in reduction of the incidence of AIDS-related KS and regression of the existing lesions. Early diagnosis and treatment of AIDS associated KS would definitely increase the life span and quality of the patients. PMID:27890943

  6. Sneddon syndrome associated with Protein S deficiency.

    PubMed

    Sayin, Refah; Bilgili, Serap Gunes; Karadag, Ayse Serap; Tombul, Temel

    2012-01-01

    Sneddon syndrome (SS) is rare, arterio-occlusive disorder characterized by generalized livedo racemosa of the skin and various central nervous symptoms due to occlusion of medium-sized arteries of unknown. Seizure, cognitive impairment, hypertension, and history of repetitive miscarriages are the other symptoms seen in this disease. Livedo racemosa involves persisting irreversible skin lesions red or blue in color with irregular margins. Usually, SS occurs in women of childbearing age. Protein S deficiency is an inherited or acquired disorder associated with an increased risk of thrombosis. We present a 33-year-old woman with SS with diffuse livedo racemosa, recurrent cerebrovascular diseases, migraine-type headache, sinus vein thrombosis, and protein S deficiency. Protein S deficiency and with Sneddon syndrome rarely encountered in the literature.

  7. [Testosterone deficiency, metabolic syndrome and diabetes mellitus].

    PubMed

    Fernández-Miró, Mercè; Chillarón, Juan J; Pedro-Botet, Juan

    2016-01-15

    Testosterone deficiency in adult age is associated with a decrease in libido, energy, hematocrit, muscle mass and bone mineral density, as well as with depression. More recently, testosterone deficiency has also been associated with various components of the metabolic syndrome, which in turn is associated with a five-fold increase in the risk of cardiovascular disease. Low testosterone levels are associated with increased insulin resistance, increase in fat mass, low HDL cholesterol, higher triglyceride levels and hypertension. Testosterone replacement therapy in patients with testosterone deficiency and type 2 diabetes mellitus and/or metabolic syndrome has shown reductions in insulin resistance, total cholesterol, LDL cholesterol and triglycerides and improvement in glycemic control and anthropometric parameters.

  8. Autopsy pathology in the acquired immune deficiency syndrome.

    PubMed Central

    Reichert, C. M.; O'Leary, T. J.; Levens, D. L.; Simrell, C. R.; Macher, A. M.

    1983-01-01

    The acquired immune deficiency syndrome (AIDS) is a devastating new illness which appears to be sexually and parenterally transmissible. AIDS was first described in the male homosexual community; however, the disease has more recently been described among intravenous drug abusers, Haitians, hemophiliacs, and others. The etiologic agent is unknown. AIDS may represent an infection by a previously undescribed organism, a mutant of a known microorganism, or a multifactorial combination of environmental, immunologic, and genetic factors. As a consequence of the disease's seemingly irreversible ablation of the cell-mediated immune system, AIDS victims succumb to a variety of infections and/or unusual neoplasms. In its fully developed form, mortality approaches 100%. At autopsy the gross and microscopic pathology of the syndrome can be divided into three general categories: 1) morphologic manifestations of profound lymphoid depletion; 2) infections, usually with mixed opportunistic pathogens; and 3) unusual neoplasms, most frequently Kaposi's sarcoma or high-grade lymphomas. Images Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 Figure 6 Figure 7 Figure 8 Figure 9 Figure 10 Figure 11 Figure 12 Figure 13 Figure 14 Figure 15 Figure 16 Figure 17 Figure 18 Figure 19 Figure 20 Figure 21 PMID:6311021

  9. Gastrointestinal surgery and the acquired immune deficiency syndrome

    PubMed Central

    Weledji, Elroy P.; Nsagha, Dickson; Chichom, Alain; Enoworock, George

    2015-01-01

    Acquired immune-deficiency syndrome (AIDS) is becoming an increasing problem to the surgeon. The impact of HIV/AIDS on surgical practice include the undoubted risk to which the surgeon will expose him or herself, the atypical conditions that may be encountered and the outcome and long term benefit of the surgical treatment in view of disease progression. The two factors most associated with surgical outcome and poor wound healing were AIDS and poor performance status (ASA score). This article questions whether gastrointestinal surgical procedures can be safe and effective therapeutic measures in HIV/AIDS patients and if surgical outcome is worthy of the surgeon's ethical responsibility to treat. As HIV/AIDS patients are not a homogeneous group, with careful patient selection, emergency laparotomy for peritonitis confers worthwhile palliation. However, aggressive surgical intervention must be undertaken with caution and adequate peri-operative care is required. Symptomatic improvement of anorectal pathology may make delayed wound healing an acceptable complication. Alternatives to surgery can be contemplated for diagnosis, prophylaxis or palliation. PMID:25685343

  10. Conference Summary on Roundtable for the Development of Drugs and Vaccines Against Acquired Immuno Deficiency Syndrome (AIDS) Held in Washington, DC on 11-12 September 1989: Surrogate Endpoints in Evaluating the Effectiveness of Drugs against HIV Infection and AIDS

    DTIC Science & Technology

    1990-06-01

    overall well-being in evaluations of interventions for patients with cystic fibrosis . Any discussion of treatment for pediatric AIDS would be incomplete...because they also proceed rapidly, changes can be detected early. Loss of appetite , wasting, and neuropsychological impairment (detectable in 40 to 95

  11. Gene Expression Profiles of HIV/AIDS Patients with Qi-Yin Deficiency and Dampness-Heat Retention

    PubMed Central

    Liu, Sa; Chen, Yulong; Xu, Qianlei; Chen, Jianshe; Wang, Changhai; Wang, Zhao; Ma, Suna; Wu, Xingwei; Zhang, Ning

    2016-01-01

    Abstract Objectives: Traditional Chinese Medicine (TCM) applied in the clinic as a complementary and alternative therapy has helped improve immunity and reduce side effects and symptomatic treatment in patients with HIV/AIDS. However, the mechanisms of TCM syndromes are not clear. Transcriptomics enables the study of such TCM syndromes. Design: This study compared the messenger RNA (mRNA) expressions of healthy persons and patients with HIV/AIDS who had two common TCM syndromes, qi-yin deficiency and dampness-heat retention, to find the difference in HIV/AIDS with TCM syndromes. Results: Comparison with healthy persons identified 113 mRNAs—41 enhanced and 72 decreased—in the qi-yin deficiency group. Additionally, 76 mRNAs were found in the dampness-heat retention group: 14 increased and 62 decreased. Functional genetic analysis of the mRNAs indicated that two TCM syndromes were correlated with cell apoptosis, immunoinflammatory responses, and lymphocyte activation. Differentially expressed mRNAs in the qi-yin deficiency group were obviously associated with cellular activity, communication, protein localization, cellular ion homeostasis, and regulation of cell motion, whereas mRNAs in the dampness-heat retention group were associated with sequence-specific DNA binding, cellular response to stress, and hemopoietic or lymphoid organ development. Conclusions: These results suggest that the formation of different TCM syndromes in patients with HIV/AIDS were founded on biological transcriptomics, which reveal mechanisms of the formation of these syndromes in HIV/AIDS. Differentially expressed mRNAs in two TCM syndrome groups tended to normalize after TCM intervention, which indicates that TCM might remit symptoms by changing genetic expression. PMID:27759429

  12. Heterotopic ossification (myositis ossificans) in acquired immune deficiency syndrome. Detection by gallium scintigraphy.

    PubMed

    Drane, W E; Tipler, B M

    1987-06-01

    A case of heterotopic ossification (myositis ossificans) secondary to the central nervous system complications of acquired immune deficiency syndrome (AIDS) is reported. Because of the overwhelming suspicion of infection in this patient, this diagnosis was not considered until a gallium scan revealed the typical findings of heterotopic ossification. Because of the increasing utilization of gallium imaging in the AIDS population, every imaging specialist should be aware of this potential disorder.

  13. Neurological Complications of AIDS

    MedlinePlus

    ... Patient & Caregiver Education » Fact Sheets Neurological Complications of AIDS Fact Sheet Table of Contents (click to jump ... Where can I get more information? What is AIDS? AIDS (acquired immune deficiency syndrome) is a condition ...

  14. Select Personality Characteristic Differences between Caregivers for Persons with Acquired Immune Deficiency Syndrome and Caregivers for Other Types of Illness.

    ERIC Educational Resources Information Center

    Angel, Daniel Scott; Heritage, Jeannette

    The purpose of this study was to analyze select personality characteristics of individuals working within the Acquired Immune Deficiency Syndrome (AIDS) population in comparison to non-AIDS caregivers by using two personality assessment instruments. Subjects were from two health care provider populations. Two hundred research packets were…

  15. Hepatobiliary manifestations of the acquired immune deficiency syndrome.

    PubMed

    Cappell, M S

    1991-01-01

    Patients with the acquired immune deficiency syndrome (AIDS) frequently develop hepatic dysfunction. Although hepatic injury may indirectly result from malnutrition, hypotension, administered medications, sepsis, or other conditions, the hepatic injury is frequently due to opportunistic hepatic infection, directly related to AIDS. Infection with Mycobacterium avium intracellulare typically occurs in patients with advanced immunocompromise and with systemic symptoms due to widely disseminated infection. In contrast, hepatic tuberculosis often occurs with less advanced immunocompromise. Cytomegaloviral infection may produce a hepatitis. Cytomegaloviral and cryptosporidial infections have been implicated as causes of acalculous cholecystitis and of a secondary sclerosing cholangitis. About 10-20% of patients with AIDS have chronic hepatitis B infection. These patients tend to develop minimal hepatic inflammation and necrosis. The clinical findings in patients with hepatic cryptococcal infection are usually due to concomitant extrahepatic infection. Hepatic histoplasmosis usually develops as part of a widely disseminated infection with systemic symptoms. Hepatic involvement by Kaposi's sarcoma is rarely documented ante mortem because an unguided liver biopsy is an insensitive diagnostic procedure. Patients with non-Hodgkin's lymphoma of the liver typically have lymphadenopathy, hepatomegaly, and systemic symptoms. As a pragmatic approach, patients with liver dysfunction and HIV-related disease should have a sonographic or computerized tomographic examination of the liver. Patients with dilated bile ducts should undergo endoscopic retrograde cholangiopancreatography because opportunistic infection may produce biliary obstruction. Patients with a focal hepatic lesion should be considered for a guided liver biopsy. Patients with a significantly elevated serum alkaline phosphatase level should be considered for a percutaneous liver biopsy. When performed for these

  16. Aromatase deficiency, a rare syndrome: case report.

    PubMed

    Baykan, Emine Kartal; Erdoğan, Mehmet; Özen, Samim; Darcan, Şükran; Saygılı, L Füsun

    2013-01-01

    Aromatase deficiency (AD) is a rare autosomal recessive inheritance syndrome. Its worldwide incidence is unknown, and there are few case reports in the literature. Aromatase dysfunction develops due to CYP19A1 gene mutation and a decrease in estrogen synthesis. Estrogen deficiency can induce delayed epiphyseal closure, eunuchoid body habitus, osteopenia, and osteoporosis in both genders. Our patient was a 27-year-old male who presented with bone pain, recurrent bone fractures associated with minimal trauma starting in puberty, and a progressive increase in height. Laboratory tests revealed that the blood levels of follicle-stimulating hormone and luteinizing hormone were above normal, testosterone level was normal, and estrogen was undetectable. Plain bone radiography of the left wrist and hand demonstrated that the epiphyses were still unfused. Lumbar osteoporosis was detected in bone densitometry. In the genetic analysis, homozygous R375H guanine-adenine (G-A) mutation was detected in the CYP19A1 gene, and a diagnosis of AD was reached. Treatment with 25 μg transdermal estradiol was started. All family members were examined. Homozygous R375H G-A mutation was detected in the patient's younger brother. Heterozygous R375H G-A mutation was found in his mother, father, and older brother. In conclusion, this AD patient requires lifetime estrogen replacement in order to provide sufficient bone mineralization, to reduce the risk of bone fractures, and to lead a healthy life. The best method to prevent the possible complications is to diagnose the AD syndrome at early ages and to provide adequate estrogen replacement starting at puberty.

  17. Kaposi's sarcoma of the head and neck in the acquired immune deficiency syndrome.

    PubMed

    Patow, C A; Steis, R; Longo, D L; Reichert, C M; Findlay, P A; Potter, D; Masur, H; Lane, H C; Fauci, A S; Macher, A M

    1984-06-01

    Since 1981 a new syndrome of acquired immune deficiency (AIDS) has been recognized. Male homosexuals, male and female intravenous drug abusers, and recipients of blood products (i.e., hemophiliacs) appear to be the populations at risk. The syndrome has been manifested by community-acquired opportunistic infections and/or Kaposi's sarcoma (KS). Otolaryngologic manifestations of AIDS are not infrequent. Thirteen AIDS patients at the National Institutes of Health with KS of the head and neck region are presented. All 13 patients were homosexual or bisexual males. Nine initially presented with KS, five with KS of the head or neck. As a group the patients demonstrated lesions involving the oropharyngeal, tracheobronchial, and gastrointestinal regions. Their clinical course and complications are presented in detail. The mortality rate in this subgroup of AIDS patients is extraordinarily high (62%), with an average longevity of 11 months following initial diagnosis.

  18. [Thoracic manifestations of AIDS (acquired immunodeficiency syndrome)].

    PubMed

    Bernasconi, A; Zompatori, M; Chiodo, F; Costigliola, P; Ricchi, E; Colangeli, V; Canini, R; Gavelli, G

    1989-11-01

    AIDS (acquired immunodeficiency syndrome) seems to be related to human immunodeficiency virus (HIV) and is characterized by severe T-helpers lymphocyte dysfunction. Many of the AIDS patients (47-70%) develop pulmonary manifestations, both infectious and neoplastic, in the course of their disease. In the Department of Infectious Diseases of our Hospital are studied many patients HIV+. Every year 246 seropositive new patients have been discovered. Among them we have studied 25 subjects with respiratory disease, by chest radiographs; successively, according to clinical picture, we have performed thoracic computed tomography, Gallium scintigraphy, fiberoptic bronchoscopy with transbronchial biopsy (TBB), bronchoalveolar lavage (BAL); the majority of these patients (68%) had AIDS, only 28% had ARC and 4% had PGL. In our experience, the diagnosed diseases were mainly infections (92%), and most frequently (52%) due to Pneumocystis carinii, alone or in association with other etiologic agents. We have not found pathognomonic radiographic abnormalities, but chest X-ray evaluated with clinical and laboratory data, may often be useful to obtain diagnostic indications and in order to determine a more specific and aggressive diagnostic approach.

  19. Introduction and immunopathogenesis of acquired immune deficiency syndrome.

    PubMed

    Sudharshan, S; Biswas, Jyotirmay

    2008-01-01

    India has a large number of patients with acquired immune deficiency syndrome (AIDS), the third largest population of this group in the world. This disease was first described in patients with Pneumocystis pneumonia in 1981. Ocular lesions can occur at any stage of the disease but are more commonly seen at the late stages. Human immunodeficiency virus (HIV), the causative agent of AIDS is a retrovirus with RNA genome and a unique 'Reverse transcriptase enzyme' and is of two types, HIV-1 and 2. Most human diseases are caused by HIV-1. The HIV-1 subtypes prevalent in India are A, B and C. They act predominantly by reducing the CD4+ cells and thus the patient becomes susceptible to opportunistic infections. High viral titers in the peripheral blood during primary infection lead to decrease in the number of CD4+ T lymphocytes. Onset of HIV-1-specific cellular immune response with synthesis of HIV-1 specific antibodies leads to the decline of plasma viral load and chronification of HIV-1 infection. However, the asymptomatic stage of infection may lead to persistent viral replication and a rapid turnover of plasma virions which is the clinical latency. During this period, there is further decrease in the CD4+ counts which makes the patient's immune system incapable of controlling opportunistic pathogens and thus life-threatening AIDS-defining diseases emerge. Advent of highly active antiretroviral treatment (HAART) has revolutionized the management of AIDS though there is associated increased development of immune recovery uveitis in a few of these patients.

  20. Serum immunoglobulin G subclass dysbalances in the lymphadenopathy syndrome and acquired immune deficiency syndrome.

    PubMed Central

    Aucouturier, P; Couderc, L J; Gouet, D; Danon, F; Gombert, J; Matheron, S; Saimot, A G; Clauvel, J P; Preud'homme, J L

    1986-01-01

    Serum IgG subclass levels were measured by an indirect competitive immunoenzymatic assay with monoclonal antibodies in 61 adult patients of different geographic origins affected either with the lymphoadenopathy syndrome (LAS, 46 cases) or with the acquired immune deficiency syndrome (AIDS, 15 cases). In spite of considerable variations from patient to patient, IgG-1 and IgG-3 levels were higher than in normal Caucasians, with IgG-1 levels much more elevated in LAS than in AIDS patients. In Caucasians with AIDS or LAS, IgG-4 levels were low. IgG-2 levels tended to be low and correlated negatively with IgG-1 levels. IgG subclass imbalances were especially striking in patients with lymphoid interstitial pneumonitis. The results suggest that the IgG increase predominantly affects the less T-dependent subclasses. The low levels of the more T-dependent isotypes do not appear to play a clear role in the occurrence of pyogenic infections in certain patients. PMID:3955884

  1. HIV/AIDS and Alcohol

    MedlinePlus

    ... Psychiatric Disorders Other Substance Abuse HIV/AIDS HIV/AIDS Human immunodeficiency virus (HIV) targets the body’s immune ... and often leads to acquired immune deficiency syndrome (AIDS). Each year in the United States, between 55, ...

  2. Research Report: HIV/AIDS

    MedlinePlus

    ... Reports » HIV/AIDS » Letter from the Director HIV/AIDS Email Facebook Twitter Letter from the Director Human ... the virus that causes acquired immune deficiency syndrome (AIDS) — has been with us for three decades now. ...

  3. Inital observations of the effect of radiotherapy on epidemic Kaposi's sarcoma. [Acquired immune deficiency syndrome

    SciTech Connect

    Cooper, J.S.; Fried, P.R.; Laubenstein, L.J.

    1984-08-17

    Fifteen patients who had Kaposi's sarcoma in conjunction with the acquired immune deficiency syndrome (AIDS) received radiotherapy to a total of 17 selected lesions. All tumors exhibited at least partial regression, and the majority responded completely. The radiosensitivity of these lesions is similar to that observed in the classic form of the disease. The authors conclude that in appropriately selected cases radiotherapy should be considered the treatment of choice.

  4. Hemiconvulsion, hemiplegia, epilepsy syndrome and inherited protein S deficiency.

    PubMed

    Mondal, R K; Chakravorty, D; Das, S

    2006-02-01

    A nine-year-old Nepalese girl developed hemiconvulsion, hemiplegia, epilepsy syndrome (HHE syndrome) after an episode of right-sided focal status epilepticus following acute gastroenteritis. She had left middle cerebral artery (MCA) territory infracts due to inherited protein S deficiency.

  5. Atopic manifestations in the acquired immune deficiency syndrome: response to recombinant interferon gamma.

    PubMed Central

    Parkin, J M; Eales, L J; Galazka, A R; Pinching, A J

    1987-01-01

    Six patients with the acquired immune deficiency syndrome (AIDS) had exacerbations or recurrences of previously quiescent atopic disease when they developed immunodeficiency. Four developed a different atopic illness from that suffered previously. Atopic symptoms developed within three months after the patients developed AIDS or during prodromal illness. Two of the patients were treated with recombinant interferon gamma: both showed a striking improvement in symptoms and cellular immunity. These results indicate that cellular immunity, through interferon gamma, may have a role in regulating atopic disease. PMID:3109572

  6. Opsoclonus-myoclonus-ataxia syndrome in an AIDS patient.

    PubMed

    Vale, Thiago Cardoso; Silva, Rodrigo Alencar E; Cunningham, Mauro César Quintão E Silva; Maia, Débora Palma; Camargos, Sarah Teixeira; Cardoso, Francisco

    2013-12-01

    We report the case of a 38-year-old woman with AIDS who developed opsoclonus-myoclonus-ataxia syndrome during a period different from other cases reported in literature. Opsoclonus-myoclonus-ataxia syndrome had already been reported as the initial neurological presentation of AIDS, as well as at the time of HIV-seroconversion and immune reconstitution syndrome. Our case is unique since the patient had an elevated CD4 count and negative viral load in the period when the opsoclonus-myoclonus-ataxia syndrome occurred.

  7. Analysis of Gait Disturbance in Glut 1 Deficiency Syndrome.

    PubMed

    Blumenschine, Michelle; Montes, Jacqueline; Rao, Ashwini K; Engelstad, Kristin; De Vivo, Darryl C

    2016-11-01

    Anticipating potential therapies for Glut 1 deficiency syndrome (Glut1DS) emphasizes the need for effective clinical outcome measures. The 6-minute walk test is a well-established outcome measure that evaluates walking ability in neurological diseases. Twenty-one children with Glut 1 deficiency syndrome and 21 controls performed the 6-minute walk test. Fatigue was determined by comparing distance walked in the first and sixth minutes. Gait was analyzed by stride length, velocity, cadence, base of support, and percentage time in double support. Independent sample t-tests examined differences between group. Repeated-measures analysis of variance evaluated gait parameters over time. Glut 1 deficiency syndrome patients walked less (P < .05), had slower velocities (P < .0001), had shorter stride lengths (P < .0001), spent more time in double support (P < .001), and had increasing variability in base of support (P = .009). Glut 1 deficiency syndrome patients have impaired motor performance, walk more slowly, and have poor balance. The 6-minute walk test with gait analysis may serve as a useful outcome measure in clinical trials in Glut 1 deficiency syndrome.

  8. Mommy, Daddy--What's AIDS?

    ERIC Educational Resources Information Center

    National Association of Pediatric Nurse Associates and Practitioners, Cherry Hill, NJ.

    This brochure is designed to help parents answer the questions that their children may ask them about Acquired Immune Deficiency Syndrome (AIDS) and the Human Immuno Deficiency Virus (HIV), the virus that causes AIDS. It provides basic information about AIDS and HIV, as well as sources for further information, such as the National AIDS Hotline. It…

  9. Glut1 deficiency syndrome and novel ketogenic diets.

    PubMed

    Klepper, Joerg; Leiendecker, Baerbel

    2013-08-01

    The classical ketogenic diet has been used for refractory childhood epilepsy for decades. It is also the treatment of choice for disorders of brain energy metabolism, such as Glut1 deficiency syndrome. Novel ketogenic diets such as the modified Atkins diet and the low glycemic index treatment have significantly improved the therapeutic options for dietary treatment. Benefits of these novel diets are increased palatability, practicability, and thus compliance-at the expense of lower ketosis. As high ketones appear essential to meet the brain energy deficit caused by Glut1 deficiency syndrome, the use of novel ketogenic diets in this entity may be limited. This article discusses the current data on novel ketogenic diets and the implications on the use of these diets in regard to Glut1 deficiency syndrome.

  10. The liver in acquired immune deficiency syndrome: emphasis on patients with intravenous drug abuse.

    PubMed

    Dworkin, B M; Stahl, R E; Giardina, M A; Wormser, G P; Weiss, L; Jankowski, R; Rosenthal, W S

    1987-03-01

    To assess the spectrum of hepatic abnormalities in acquired immune deficiency syndrome (AIDS), we reviewed clinical, biochemical, and pathological material in 32 patients with AIDS. Eight-four percent of AIDS cases had a history of intravenous drug abuse. Ninety percent of AIDS patients has some liver biochemical abnormality at the first presentation of illness. During the course of AIDS, significant (p less than 0.05, paired Student's t test) rises in alkaline phosphatase and bilirubin occurred, without rises in aminotransferases. Mean abnormalities were mild, reflecting approximately 2-fold increases over baseline. Liver failure was not believed to contribute to the death of any AIDS patient. Pathological findings in AIDS included specific infectious diagnosis in 26%, granulomas in 16%, hemosiderosis in 26%, nonspecific abnormalities in 39%, cirrhosis in 23%, and chronic active hepatitis in 3%. AIDS cases were also compared to 10 selected age, sex, and epidemiologically similar non-AIDS patients. Although granulomas or infections were not seen in our comparison group, only the incidence of chronic active hepatitis was significantly different between the groups. If only those with intravenous drug abuse were studied, then none of 24 AIDS patients versus four of eight non-AIDS cases (p less than 0.005) had chronic active hepatitis. AIDS patients with specific hepatic infections tended to have a higher alkaline phosphatase and aspartate aminotransferase (p less than 0.05) than noninfected cases. However, substantial overlap existed, and no difference in hepatomegaly was noted. Ninety percent of AIDS patients were ingesting at least one potentially hepatotoxic drug. We conclude that AIDS patients have a high incidence of underlying hepatic abnormalities. However, clinical and biochemical abnormalities are similar in our selected liver biopsy patients with intravenous drug abuse with or without AIDS. As expected, AIDS patients have a higher incidence of hepatic

  11. Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood

    PubMed Central

    Ng, Joanne; Zhen, Juan; Meyer, Esther; Erreger, Kevin; Li, Yan; Kakar, Naseebullah; Ahmad, Jamil; Thiele, Holger; Kubisch, Christian; Rider, Nicholas L.; Holmes Morton, D.; Strauss, Kevin A.; Puffenberger, Erik G.; D’Agnano, Daniela; Anikster, Yair; Carducci, Claudia; Hyland, Keith; Rotstein, Michael; Leuzzi, Vincenzo; Borck, Guntram; Reith, Maarten E. A.

    2014-01-01

    Dopamine transporter deficiency syndrome due to SLC6A3 mutations is the first inherited dopamine ‘transportopathy’ to be described, with a classical presentation of early infantile-onset progressive parkinsonism dystonia. In this study we have identified a new cohort of patients with dopamine transporter deficiency syndrome, including, most significantly, atypical presentation later in childhood with a milder disease course. We report the detailed clinical features, molecular genetic findings and in vitro functional investigations undertaken for adult and paediatric cases. Patients presenting with parkinsonism dystonia or a neurotransmitter profile characteristic of dopamine transporter deficiency syndrome were recruited for study. SLC6A3 mutational analysis was undertaken in all patients. The functional consequences of missense variants on the dopamine transporter were evaluated by determining the effect of mutant dopamine transporter on dopamine uptake, protein expression and amphetamine-mediated dopamine efflux using an in vitro cellular heterologous expression system. We identified eight new patients from five unrelated families with dopamine transporter deficiency syndrome. The median age at diagnosis was 13 years (range 1.5–34 years). Most significantly, the case series included three adolescent males with atypical dopamine transporter deficiency syndrome of juvenile onset (outside infancy) and progressive parkinsonism dystonia. The other five patients in the cohort presented with classical infantile-onset parkinsonism dystonia, with one surviving into adulthood (currently aged 34 years) and labelled as having ‘juvenile parkinsonism’. All eight patients harboured homozygous or compound heterozygous mutations in SLC6A3, of which the majority are previously unreported variants. In vitro studies of mutant dopamine transporter demonstrated multifaceted loss of dopamine transporter function. Impaired dopamine uptake was universally present, and more

  12. Erythema elevatum diutinum in acquired immune deficiency syndrome: Can it be an immune reconstitution inflammatory syndrome?

    PubMed Central

    Jose, Sheethal K; Marfatia, Yogesh S.

    2016-01-01

    A 47-year-old male with acquired immune deficiency syndrome (AIDS) presented with multiple hyperpigmented papules and nodules on both ankles, dorsum of bilateral feet and soles. It was associated with mild itching and pain. The patient was diagnosed with human immunodeficiency virus (HIV) in 2007. First-line antiretroviral therapy (ART) was started in 2009 to which he responded initially. He was shifted to second-line ART 11 months ago in March 2015 due to treatment failure as suggested by CD4 count of 50 cells/mm3. The present skin lesions started 2 months after the initiation of second-line ART. Differential diagnoses considered were Kaposi's sarcoma and immune reconstitution inflammatory syndrome (IRIS) related infections, but biopsy was suggestive of erythema elevatum diutinum (EED). Patient was started on oral dapsone 100 mg/day and increased to 200 mg/day to which he is responding gradually. In the present case, appearance of the lesions after initiation of second-line ART coupled with increase in CD4 count and decrease of viral load below undetectable level suggest that EED could be an IRIS. PMID:27190420

  13. Histopathologic features of the liver in pediatric acquired immune deficiency syndrome.

    PubMed

    Jonas, M M; Roldan, E O; Lyons, H J; Fojaco, R M; Reddy, R K

    1989-07-01

    Autopsy and liver biopsy specimens from 30 pediatric patients with acquired immune deficiency syndrome (AIDS) or AIDS-related complex (ARC) were retrospectively reviewed. Of 28 cases with histologic abnormalities, the following findings were noted singly or in combination: giant-cell transformation, cytomegalovirus inclusions, Kaposi's sarcoma, diffuse lymphoplasmocytic infiltrate, granulomatous hepatitis, mild portal inflammation, necrosis around central veins, steatosis, and cholestasis. For the most part, abnormalities in the liver were not predictive of those in other organs, but the two children with the diffuse parenchymal lymphoplasmocytic infiltrate also had lymphoid interstitial pneumonitis (LIP). Liver histopathology in pediatric patients with AIDS shares some features with that in adults, but appreciable differences are noted. In particular, these differences include the higher frequency of giant-cell transformation and the lower frequency of granulomas in children and the observation of diffuse lymphoplasmocytic infiltrate associated with LIP.

  14. Findings in psychiatric consultations with patients with acquired immune deficiency syndrome.

    PubMed

    Dilley, J W; Ochitill, H N; Perl, M; Volberding, P A

    1985-01-01

    Thirteen of 40 patients with acquired immune deficiency syndrome (AIDS) admitted to the wards of a large city hospital were seen by the staff of a psychiatric consultation service. Eleven were gay men and two were bisexual men. "Depression" was the stated reason for referral of 10 patients; of these, two met DSM-III criteria for major depression, one had dysthymic disorder, and seven had adjustment disorder with depressed mood. Recurrent psychological themes of the 13 patients were: dealing with a life-threatening illness, uncertainty about the implications of an AIDS diagnosis, social isolation, and guilt over their previous life style. The role of the primary physician and of the mental health professional in the psychological care of AIDS patients is discussed.

  15. Genetics Home Reference: GLUT1 deficiency syndrome

    MedlinePlus

    ... 1016/j.braindev.2009.02.008. Epub 2009 Mar 21. Review. Citation on PubMed GeneReview: Glucose Transporter ... 10. doi: 10.1055/s-0030-1248264. Epub 2010 Mar 10. Citation on PubMed Klepper J. GLUT1 deficiency ...

  16. Baraitser and Winter syndrome with growth hormone deficiency

    PubMed Central

    Chentli, Farida; Zellagui, Hadjer

    2014-01-01

    Baraitser–Winter syndrome (BWS), first reported in 1988, is apparently due to genetic abnormalities that are still not well-defined, although many gene abnormalities are already discovered and de novo missense changes in the cytoplasmic actin-encoding genes (called ACTB and ACTG1) have been recently discovered. The syndrome combines facial and cerebral malformations. Facial malformations totally or partially present in the same patient are: Iris coloboma, bilateral ptosis, hypertelorism, broad nasal bridge, and prominent epicanthic folds. The various brain malformations are probably responsible for growth and mental retardation. To the best of our knowledge, the syndrome is very rare as few cases have been reported so far. Our aim was to describe a child with a phenotype that looks like BWS with proved partial growth hormone (GH) deficiency which was not reported before. A girl aged 7-year-old of consanguineous parents was referred for short stature and mental retardation. Clinical examination showed dwarfism and a delay in her mental development. Other clinical features included: Strabismus, epicanthic folds, broad nasal bridge, and brain anomalies such as lissencephaly, bilateral hygroma, and cerebral atrophy. Hormonal assessment showed partial GH deficiency without other endocrine disorders. Our case looks exactly like BWS. However, apart from facial and cerebral abnormalities, there is a partial GH deficiency which can explain the harmonious short stature. This case seems worth to be reported as it adds GH deficiency to the very rare syndrome. PMID:25624931

  17. West syndrome due to vitamin B12 deficiency.

    PubMed

    Serin, Hepsen Mine; Kara, Aslıhan Oruçoğlu; Oğuz, Baran

    2015-12-01

    Vitamin B12 is one of the essential vitamins affecting various systems of the body. Vitamin B12 deficiency in infants often produces haematological and neurological deficits including macrocyticanaemia, neurodevelopmental delay or regression, irritability, weakness, hypotonia, ataxia, apathy, tremor andseizures. In this article, we report the case of a six-month-old male patient diagnosed with West syndrome associated with vitamin B12 deficiency. Although the patient had no evidence of macrocytic anemia in complete blood count, we measured the level of vitamin B12 because the patient had hypotonicity and found it to be low. No other problem was found in the other investigations directed to the etiology of West syndrome. He was being exclusively breast-fed and vitamin B12 deficiency was related with nutritional inadequacy of his mother. Vitamin B12 deficiency should be considered in the differential diagnosis of patients presenting with different neurological findings. In addition, vitamin B12 deficiency should be considered as a rare cause in West syndrome which has a heterogeneous etiology.

  18. Vitamin D deficiency in a patient with HDR syndrome.

    PubMed

    Kostoglou-Athanassiou, Ifigenia; Stefanopoulos, Dimitrios; Karfi, Areti; Athanassiou, Panagiotis

    2015-07-08

    The case of a patient with clinical symptoms, laboratory and imaging findings of hypoparathyroidism, sensorineural deafness, renal dysplasia HDR, or Barakat syndrome (hypoparathyroidism, deafness, renal dysplasia), and vitamin D deficiency, is presented. A Caucasian man aged 51 years with a history of chronic hypocalcaemia since childhood, was admitted with hypertonia of the body and extremities, and loss of consciousness. On admission, he was found to have severe hypocalcaemia, hyperphosphataemia, severe hypoparathyroidism, low serum magnesium and mild renal insufficiency. Calcium gluconate was administered intravenously supplemented with magnesium, and the patient recovered consciousness while clinical and laboratory findings improved. Evaluation revealed left renal aplasia and sensorineural deafness affecting both ears. Vitamin D deficiency was also present. He was given calcium and vitamin D supplements orally, and the hypocalcaemia was corrected. This case is described as it is an extremely rare case of HDR syndrome with concurrent vitamin D deficiency.

  19. CPEO and carnitine deficiency overlapping in MELAS syndrome.

    PubMed

    Hsu, C C; Chuang, Y H; Tsai, J L; Jong, H J; Shen, Y Y; Huang, H L; Chen, H L; Lee, H C; Pang, C Y; Wei, Y H

    1995-09-01

    Mitochondrial myopathy, encephalopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is one of the mitochondrial encephalomyopathies that has distinct clinical features including stroke-like episodes with migraine-like headache, nausea, vomiting, encephalopathy and lactic acidosis. We report a 27-year-old woman who presented with partial seizure, stroke-like episodes including hemiparesis, hemianopia and hemihypethesia, sensorineural hearing loss, migraine-like headache, and lactic acidosis. Brain computed tomographic scan showed encephalomalacia in the right parieto-occipital area and recent hypodensity in the left temporoparieto-occipital area with cortical atrophy. Muscle biopsy revealed ragged-red fibers and paracrystaline inclusions in the mitochondria. Genetic study revealed an A to G point mutation at nucleotide position (np) 3243 of mitochondrial DNA. External ophthalmoplegia and ptosis were also found during two exaggerated episodes in this patient. Therefore, the overlapping syndrome of chronic progressive external ophthalmoplegia in the MELAS syndrome is considered in this case. Furthermore, we also found carnitine deficiency in this patient and she was responsive well to steroid therapy. Muscle biopsy also revealed excessive lipid droplets deposits. Therefore, the carnitine deficiency may occur in MELAS syndrome with the A to G point mutation at np 3243. We recommend the steroid or carnitine supplement therapy be applied to the MELAS syndrome with carnitine deficiency.

  20. Clinical recognition and aspects of the cerebral folate deficiency syndromes.

    PubMed

    Ramaekers, Vincent; Sequeira, Jeffrey M; Quadros, Edward V

    2013-03-01

    We characterized cerebral folate deficiency (CFD) as any neuro-psychiatric condition associated with low spinal fluid (CSF) N5-methyltetrahydrofolate (MTHF) but normal folate status outside the central nervous system (CNS). The commonest cause underlying CFD syndromes is the presence of serum autoantibodies of the blocking type directed against folate receptor-α (FRα) attached to the plasma-side of choroid plexus epithelial cells. Blocking FR antibodies inhibit MTHF transport across the choroid plexus. Serum titers of FR antibodies may fluctuate significantly over time. Less frequent causes of CFD are FOLR-1 mutations, mitochondrial disorders and inborn errors affecting folate metabolism. Maternal FR antibodies have been associated with neural tube defects while the presence of FR antibodies in either one or both parents increases the risk of an offspring with infantile autism. Recognizable CFD syndromes attributed to FR-antibodies in childhood are infantile-onset CFD presenting 4-6 months after birth, infantile autism with neurological deficits, and a spastic ataxic syndrome from the age of 1 year, while progressive dystonic or schizophrenic syndromes develop during adolescence. FR autoantibodies are frequently found in autism spectrum disorders, in an Aicardi-Goutières variant and in Rett syndrome. The heterogeneous phenotype of CFD syndromes might be determined by different ages of onset and periods when FR autoantibodies are generated with consequent CNS folate deficiency. Folate deficiency during various critical stages of fetal and infantile development affects structural and functional refinement of the brain. Awareness of CFD syndromes should lead to early detection, diagnosis and improved prognosis of these potentially treatable group of autoimmune and genetically determined conditions.

  1. Effectiveness and safety of traditional Chinese medicine in treating acquired immune deficiency syndrome: 2004-2014.

    PubMed

    Liu, Zhi-Bin; Yang, Ji-Ping; Xu, Li-Ran

    2015-12-23

    Substantial progress has been made in China in using traditional Chinese medicine (TCM) to treat acquired immune deficiency syndrome (AIDS). Our objective was to review the latest developments in TCM treatment of AIDS in China between 2004 and 2014. We reviewed the content of original articles investigating the efficacy and safety of TCM for treating AIDS published in Chinese and English language journals. Relevant references from 2004 to 2014 were found using PubMed and the China National Knowledge Infrastructure Database. We found that TCM has been widely used for treating AIDS and its complications in China. The number of TCM studies has increased, which indicates efficacy and safety. Measures of efficacy in the reviewed articles included the alleviation of human immunodeficiency virus (HIV)-related signs and symptoms, improvements in quality of life, improvements in long-term survival, counteraction of the adverse side effects of antiviral drugs, promotion of immune reconstitution, and improvement of laboratory results. In sum, the literature indicates that TCM is safe. TCM plays an important role in the treatment of AIDS. Some studies have attempted to measure the efficacy and safety of TCM for treating AIDS, but more evidence is needed. Therefore, more research on this topic is required in the future.

  2. CoQ10 Deficiency Is Not a Common Finding in GLUT1 Deficiency Syndrome.

    PubMed

    Barca, Emanuele; Tang, Maoxue; Kleiner, Giulio; Engelstad, Kristin; DiMauro, Salvatore; Quinzii, Catarina M; De Vivo, Darryl C

    2016-01-01

    CoQ10 deficiency has been recently described in tissues of a patient with GLUT1 deficiency syndrome. Here, we investigated patients and mice with GLUT1 deficiency in order to determine whether low CoQ is a recurrent biochemical feature of this disorder, to justify CoQ10 supplementation as therapeutic option.CoQ10 levels were investigated in plasma, white blood cells, and skin fibroblasts of 16 patients and healthy controls and in the brain, cerebellum, liver, kidney, muscle, and plasma of 4-month-old GLUT1 mutant and control mice.CoQ10 levels in plasma did not show any difference compared with controls. Since most of the patients studied were on a ketogenic diet, which can alter CoQ10 content in plasma, we also analyzed white blood cells and cultured skin fibroblasts. Again, we found no differences. In mice, we found slightly reduced CoQ in the cerebellum, likely an epiphenomenon, and activity of the mitochondrial respiratory chain enzymes was normal.Our data from GLUT1 deficiency patients and from GLUT1 model mice fail to support CoQ10 deficiency as a common finding in GLUT1 deficiency, suggesting that CoQ deficiency is not a direct biochemical consequence of defective glucose transport caused by molecular defects in the SLC2A1 gene.

  3. Endocrine disorders in Brazilian patients with acquired immune deficiency syndrome.

    PubMed

    Fontes, Rosita; Vangeloti, Andréa; Pires, Maria Lucia; Lima, Mário B C; Dimetz, Trude; Faulhaber, Marcelo; Faria, Raul; Meirelles, Ricardo M

    2003-01-01

    Acquired immunodeficiency syndrome (AIDS) was first reported in Brazil in 1980. In 1997, its incidence was 147 per million and then declined to 90 per million in 2000. Abnormalities of endocrine organ systems occur frequently in patients with AIDS. We evaluated mineralcorticoid, glucocorticoid, and thyroid hormone axes and glucose and insulin responses to a standardized oral glucose dose in healthy individuals; human immunodeficiency virus (HIV)-seropositive, asymptomatic individuals; HIV-infected patients with general lymphadenopathy, diarrhea, fever, fatigue, nocturnal sweating, and weight loss; and HIV-infected patients diagnosed with secondary infectious diseases or neoplasms. Baseline cortisol levels in the patients with AIDS were significantly higher than those in healthy control subjects. However, after adrenocorticotrophic hormone stimulation, cortisol levels were significantly lower in HIV-infected patients. Insulin concentrations were significantly higher after the glucose load in HIV-infected asymptomatic than in patients with AIDS. There were no significant differences in mineralocorticoid or thyroid function among groups.

  4. Muscle fibrillin deficiency in Marfan's syndrome myopathy

    PubMed Central

    Behan, W; Longman, C; Petty, R; Comeglio, P; Child, A; Boxer, M; Foskett, P; Harriman, D

    2003-01-01

    Objective: To report a family with Marfan's syndrome in whom a myopathy was associated with respiratory failure; muscle biopsies from affected individuals were examined to determine whether there were abnormalities in fibrillin. Methods: 21 family members underwent detailed clinical examination, including neurological and pulmonary assessment. Muscle biopsies in the most severely affected cases were immunostained using monoclonal antibodies to specific fibrillin components. Genomic DNA from all 21 members was analysed for mutations in the fibrillin gene, FBN1, on 15q21. Results: 13 individuals had a C4621T base change in exon 37 of the FBN1 gene, which in four cases segregated with muscle weakness or evidence of respiratory muscle dysfunction or both. Their muscle biopsies revealed an abnormality in fibrillin immunoreactivity. Conclusions: Abnormalities in fibrillin can be detected in muscle biopsies from patients with Marfan's syndrome who have myopathy. This pedigree, with a point mutation in FBN1, also draws attention to the potential for respiratory failure associated with myopathy. PMID:12700307

  5. Subject Control of the Literature of Acquired Immunodeficiency Syndrome (AIDS).

    ERIC Educational Resources Information Center

    Bierbaum, Esther Green; And Others

    1992-01-01

    Describes a study that analyzed the Medical Subject Headings (MeSH) terms used to index the literature of Acquired Immunodeficiency Syndrome (AIDS). Subject access to the AIDSLINE database developed by the National Library of Medicine (NLM) is examined, and changes in subject headings that reflect the growth of the field are analyzed. (12…

  6. Chromosome structure deficiencies in MCPH1 syndrome.

    PubMed

    Arroyo, M; Trimborn, M; Sánchez, A; Hirano, T; Neitzel, H; Marchal, J A

    2015-12-01

    Mutations in the MCPH1 gene result in primary microcephaly in combination with a unique cellular phenotype of defective chromosome condensation. MCPH1 patient cells display premature chromosome condensation in G2 phase of the cell cycle and delayed decondensation in early G1 phase, observable as an increased proportion of cells with prophase-like appearance. MCPH1 deficiency thus appears to uncouple the chromosome cycle from the coordinated series of events that take place during mitosis such as some phases of the centrosome cycle and nuclear envelope breakdown. Here, we provide a further characterization of the effects of MCPH1 loss-of-function on chromosome morphology. In comparison to healthy controls, chromosomes of MCPH1 patients are shorter and display a pronounced coiling of their central chromatid axes. In addition, a substantial fraction of metaphase chromosomes shows apparently unresolved chromatids with twisted appearance. The patient chromosomes also showed signs of defective centromeric cohesion, which become more apparent and pronounced after harsh hypotonic conditions. Taking together, the observed alterations indicate additional so far unknown functions of MCPH1 during chromosome shaping and dynamics.

  7. Exceptional Association Between Klinefelter Syndrome and Growth Hormone Deficiency.

    PubMed

    Doubi, Sana; Amrani, Zoubida; Ouahabi, Hanan El; Boujraf, Saïd; Ajdi, Farida

    2015-01-01

    Klinefelter syndrome (KS) is characterized in adults by the combination of a tall stature, small testes, gynecomastia, and azoospermia. This case is described in a North African population of the Mediterranean region of North Africa. We report the case of a male 16 years old, of Arab ethnic origin, and diagnosed with this syndrome, who had a small height in relation to a growth hormone (GH) deficiency and a history of absence seizures (generalized myoclonic epilepsy). The patient's size was <-2.8 standard deviation (SD) with weight <-3 SD. GH deficiency was isolated and confirmed by two dynamic tests (insulin - hypoglycemia tolerance test and clonidine) with normal hypothalamic magnetic resonance imaging (MRI). GH supplementation using recombinant GH was advocated, while gonadotropin treatment was deferred. Small size in children or adolescents should not eliminate the diagnosis of Klinefelter syndrome - on the contrary, the presence of any associated sign (brain maturation, delay in puberty, aggressiveness) should encourage one to request a karyotype for the diagnosis and appropriate care of any case of KS that can be associated with GH deficiency, or which is in a variant form (isochromosome Xq, 49,XXXXY).

  8. Allelic variations of glut-1 deficiency syndrome: the chinese experience.

    PubMed

    Liu, Yanyan; Bao, Xinhua; Wang, Dong; Fu, Na; Zhang, Xiaoying; Cao, Guangna; Song, Fuying; Wang, Shuang; Zhang, Yuehua; Qin, Jiong; Yang, Hong; Engelstad, Kristin; De Vivo, Darryl C; Wu, Xiru

    2012-07-01

    Glucose transporter type 1 deficiency syndrome is characterized by infantile onset seizures, development delay, movement disorders, and acquired microcephaly. The phenotype includes allelic variants such as intermittent ataxia, choreoathetosis, dystonia, and alternating hemiplegia of childhood with or without epilepsy. Dystonias involve allelic variants of glucose transporter type 1 deficiency syndrome. Three Chinese patients presented with paroxysmal behavioral disturbance, weakness, ataxia (especially after fasting), and exercise intolerance. Electroencephalogram findings did not correlate with clinical manifestations. Cranial magnetic resonance imaging produced normal results or mild hypomyelination. Hypoglycorrhachia was evident in all cases. Cerebrospinal fluid glucose ranged from 1.63-2.45 mmol/L. Erythrocyte 3-O-methyl-d-glucose uptake was decreased to 58% in patient 1. Three SLC2A1 disease-causing mutations (761delA, P383H, and R400C) were observed. No patient tolerated ketogenic diets. Two patients responded to frequent meals with snacks. Cerebrospinal fluid evaluation constitutes the diagnostic testing permitting early treatment of glucose transporter type 1 deficiency syndrome. Early diagnosis and treatment improve prognoses.

  9. Acquired immune deficiency syndrome: recommendations of a Working Party of the Hospital Infection Society.

    PubMed

    Speller, D C; Shanson, D C; Ayliffe, G A; Cooke, E M

    1990-01-01

    Unified procedures to control those infections that are transmitted by inoculation of blood are recommended. These should be applied to patients with acquired immune-deficiency syndrome (AIDS), AIDS-related complex, persistent generalized lymphadenopathy or hepatitis B, those with serological evidence of infection by human immunodeficiency virus or hepatitis B virus, and those in medical and social categories with a higher than average prevalence of such infections. When the identification of these categories of patient would be particularly difficult, the precautions should be applied to all patients, in situations of high risk for inoculation incidents. Rational infection-control measures, based on the known mode of spread, permit efficient management of infected patients, with satisfactory protection of staff and other patients.

  10. Social capital of Iranian patients living with acquired immune deficiency syndrome and associated factors.

    PubMed

    Ansari, S K; Nedjat, S; Jabbari, H; Saiepour, N; Heris, M J

    2015-12-13

    This study investigated the social capital of Iranian patients living with acquired immune deficiency syndrome (AIDS) and the associated factors. In a cross-sectional study the Integrated Social Capital Questionnaire was filled by a sequential sample of 300 patients visiting a referral counselling centre in Tehran. The patients' social capital scores were around 50% in the trust, social cohesion, collective action and cooperation and political empowerment domains. The groups and networks membership domain scored the lowest (27.1%). In regression analysis, employment status was significantly associated with groups and networks membership; age, marital status and financial status were associated with collective action and cooperation; period of disease awareness and marital status affected social cohesion and inclusion; and having risky behaviour affected empowerment and political action. Efforts are needed to enhance the social capital of those patients living with AIDS who are younger, unemployed, divorced/widowed, with risky behaviours and shorter disease awareness.

  11. Speculations on the viral etiology of acquired immune deficiency syndrome and Kaposi's sarcoma.

    PubMed

    Conant, M A

    1984-07-01

    The acquired immune deficiency syndrome (AIDS) appeared in the United States in late 1978 and has spread at an epidemic rate through the four major coastal cities of this country. The disease appears to show the same epidemiologic distribution as hepatitis B virus infection, and for this reason, most investigators feel that this new disease is caused by a blood-borne sexually transmitted virus. A number of viral agents have been suggested as the cause of AIDS, but to date, no virus has been consistently isolated. The most likely candidate is a retrovirus that has recently been introduced into the human population and has found its way into two extremely high-risk groups, namely, promiscuous male homosexuals and intravenous drug abusers. The relationship between Kaposi's sarcoma and cytomegalovirus is still unclear, but evidence is mounting that cytomegalovirus may be the agent that initiates this multifocal malignancy. Multiple factors must be involved in this process. It is known that some immunosuppressed individuals develop Kaposi's sarcoma, which completely resolves when the immunosuppression is reversed; however, in individuals with classical Kaposi's sarcoma, the profound degree of helper T-cell depression that characterizes the acquired immune deficiency syndrome is not seen.

  12. Renal syndromes in the acquired immunodeficiency syndrome (AIDS): lessons learned from analysis over 5 years.

    PubMed

    Rao, T K; Friedman, E A

    1988-06-01

    Renal syndromes associated with the Acquired immunodeficiency syndrome include: potentially reversible acute renal failure, AIDS associated nephropathy which leads to end stage renal disease, and AIDS developing in patients who are being treated by maintenance hemodialysis. The longitudinal study of 95 patients with AIDS and various forms of renal syndrome at two urban institutions indicates that both acute and chronic renal failure is increasing yearly. While some patients with acute renal failure recover renal function and survive for prolonged period, the mortality of dialyzed patients with irreversible renal failure continues to be unsatisfactory. There is a great need for collecting data from high risk areas to analyze the results of maintenance dialysis therapy in patients with AIDS, to assess the economic impact of uremia therapy, and for long-term planning of available resources.

  13. Difficult Decisions: AIDS.

    ERIC Educational Resources Information Center

    Slesnick, Irwin L.

    1988-01-01

    Focuses on public education about the acquired immune deficiency syndrome (AIDS) epidemic. Discusses the problems of a second epidemic of fear and anxiety. Presents several questions for classroom discussion and analysis of the public fear of AIDS. Gives some statistics highlighting misinformation about AIDS. (CW)

  14. Answering Your Questions about AIDS.

    ERIC Educational Resources Information Center

    Kalichman, Seth C.

    This book focuses on AIDS education and answers 350 commonly asked questions about Human Immunodeficiency Virus (HIV) and Acquired Immune Deficiency Syndrome (AIDS) taken from questions addressed to two major urban AIDS hotlines (Milwaukee, Wisconsin, and Houston, Texas). Chapter 1, "HIV - The Virus That Causes AIDS," discusses: the HIV…

  15. Liver biopsies in the acquired immune deficiency syndrome: influence of endemic disease and drug abuse.

    PubMed

    Comer, G M; Mukherjee, S; Scholes, J V; Holness, L G; Clain, D J

    1989-12-01

    A retrospective review of 48 liver biopsies in 34 patients with acquired immune deficiency syndrome (AIDS) and 10 patients with AIDS-related complex (ARC) was performed at Harlem Hospital Center to assess the diagnostic yield of liver biopsies in this distinct patient population. Among the patients, 93.2% were black and 32 were males, with a mean age of 36.7 yr. Intravenous drug abuse was a risk factor for AIDS in 81.8% of patients. Liver biopsies were particularly useful in patients with fever of unclear origin, which was positively correlated with the presence of granulomas (p = 0.01). Granulomas due to mycobacteria were present in 16 (33.3%) of the biopsies. Liver biopsy proved to be clinically significant in 14 of 17 patients (82.3%) with mycobacterial disease, or 29.3% of the liver biopsies. Chronic active hepatitis was present in 12 (29.2%) of the biopsies, and in all but one was due to non-A non-B hepatitis viruses. All patients with chronic active hepatitis were intravenous drug abusers or the sexual partners of intravenous drug abusers. Liver biopsy can provide important diagnostic information in AIDS patients. The pathological findings in this series reflect the high risk of exposure to tuberculosis and hepatitis in the intravenous drug abusers in Harlem.

  16. Invasive fungal infections among inpatients with acquired immune deficiency syndrome at a Chinese university hospital.

    PubMed

    Shen, Yin Zhong; Qi, Tang Kai; Ma, Jian Xin; Jiang, Xue Yan; Wang, Jiang Rong; Xu, Qing Nian; Huang, Qin; Liu, Xi Nian; Sun, Hong Qing; Lu, Hong Zhou

    2007-11-01

    Invasive fungal infections (IFIs) have become a major cause of morbidity and mortality among people with acquired immune deficiency syndrome (AIDS), however, little is known about the clinical features and prognosis of IFI in AIDS in China. This study aimed to characterise the clinical features and prognosis of IFI in AIDS patients in China. We retrospectively reviewed the records of all HIV-infected patients at a Chinese university hospital between December 2004 and May 2006. We identified 35 patients with IFI. IFIs included thrush, oesophageal candidiasis, fungal pneumonia, cryptococcosis, penicilliosis and fungaemia, 44.4% of IFIs occurred in the digestive tract, 71.8% of IFIs occurred in patients with CD4(+)T-lymphocyte counts <100 cells mm(-3). Candida albicans accounted for 57.4% of fungal pathogens isolated. All the patients received both antiretroviral and antifungal therapy; 27 patients were cured and eight died. IFI is one of the most common opportunistic infections in AIDS patients in China. IFIs mainly occur in patients with low CD4(+)T-lymphocyte counts. The majority of IFIs occur in the digestive tract. The most common pathogen causing IFI is C. albicans. The mortality rate remains high although antiretroviral therapy and many newer antifungals are available in China.

  17. [Glucose transporter-1 deficiency syndrome can cause various clinical symptoms].

    PubMed

    Larsen, Jan; Stubbings, Vibeke; Møller, Rikke Steensbjerre; Hjalgrim, Helle

    2013-12-09

    Glucose transporter-1 deficiency syndrome (GLUT1-DS) is caused by a decreased function of the glucose transporter GLUT1 protein, which is located in the blood brain barrier. This leads to inadequate glucose levels for brain metabolism and can cause various clinical symptoms including medically intractable epilepsy, developmental delay and complex movement disorders. Ketonic diet is the golden standard for treatment of GLUT1-DS. GLUT1-DS should be suspected in patients with early-onset intractable epilepsy with developmental delay or activity-induced movement disorders with or without epilepsy.

  18. [Molecular genetic studies of mitochondrial ornithine transporter deficiency (HHH syndrome)].

    PubMed

    Tsujino, S; Miyamoto, T; Kanazawa, N

    2001-11-01

    Mitochondrial ornithine transporter deficiency has been called HHH syndrome, because this disorder is characterized by three biochemical abnormalities; hyperornithinemia, hyperammonemia, and homocitrullinuria, and presents with various neurological symptoms; mental retardation, spastic paraparesis with pyramidal signs, cerebellar ataxia and episodic disturbance of consciousness or coma due to hyperammonemia. We identified four mutations in the mitochondrial ornithine transporter gene (ORNT1) of Japanese patients with HHH syndrome. These include a nonsense mutation (R179X), associated with exon skipping, missense mutations (G27E, P126R), and an insertion of AAC between codons 228 and 229, leading to an insertion of amino acid Asn. Especially, R179X was detected 4 of 7 Japanese patients (8 of 14 alleles), implying that this is a common mutation in Japanese population.

  19. Recent topics related to testosterone deficiency syndrome in Japan

    PubMed Central

    Tsujimura, Akira; Nonomura, Norio

    2011-01-01

    Androgens, the levels of which decrease with ageing, play many physiological roles in various organs. Testosterone deficiency syndrome (TDS) has received widespread attention in the last several years. First-line treatment for TDS should be testosterone replacement therapy (TRT), which is reported to improve several TDS symptoms. Recently, a clinical practice manual for TDS was written and published by a collaborative team from the Japanese Urological Association and the Japanese Society for the Study of the Aging Male to recommend standard procedures for the diagnosis, treatment, prevention and monitoring of adverse reactions to TRT and for post-treatment assessment. In this manual, intramuscular injection of testosterone enanthate or human chorionic gonadotropin and the testosterone gel ‘Glowmin' were recommended as TRT. Currently, two topics related to TDS are being focused on in Japan: the relationship between TDS and metabolic syndrome and treatment options for eugonadal patients with TDS symptoms. In this review, the possibility of TRT for metabolic syndrome as well as the relationship between testosterone and adiponectin, which is a key molecule in metabolic syndrome, is discussed. Finally, the possibility of herbal medicines as a treatment option for patients with TDS is addressed, especially for eugonadal patients, because eugonadal men with TDS symptoms account for approximately 30% of the general population. The increase in the levels of several cytokines, such as IL-8, IL-13, interferon-γ and tumor necrosis factor-α, after herbal medicine treatment may be the reason for this efficacy. PMID:21460860

  20. Attitudes towards and Knowledge of AIDS.

    ERIC Educational Resources Information Center

    Edwards, Andrew; Hiday, Virginia Aldige'

    Most research on Acquired Immune Deficiency Syndrome (AIDS) has been medical and most social science research on AIDS has been concerned with social factors in its spread and with social-psychological effects of contracting AIDS. This study was conducted to examine public attitudes toward, and public knowledge about AIDS. Knowledge about AIDS was…

  1. Development of a Sensitive DNA Assay for the AIDS Virus, HTLV-III/LAV

    DTIC Science & Technology

    1989-11-19

    lylphadenopathy syndrome, acquired immuno- deficiency disease syndrome (AIDS)-related complex (ARC) (including night sweats, fever, diarrhea, weight loss, oral ... candidiasis ), or AIDS (including neurological disease, opportunistic infections, or malignancies) (1). A signifi- cant number of infected individuals

  2. An OTC deficiency 'phenocopy' in association with Klinefelter syndrome.

    PubMed

    Swarts, L; Leisegang, F; Owen, E P; Henderson, H E

    2007-02-01

    Late-onset urea cycle disorder in a 20-month-old boy is unusually associated with Klinefelter syndrome with a 47XXY karyotype. We record the typical clinical and biochemical findings of ornithine transcarbamylase (OTC) deficiency in a young boy with a short history of recurrent vomiting, self mutilating behaviour, lethargy, ataxia and seizures. Laboratory studies showed hyperammonaemia and orotic aciduria, with normal citrulline and other urea cycle amino acids. Unfortunately, a liver biopsy for OTC activity measurement was refused by the parents. A rapid reversal of phenotype was seen on the introduction of a low-protein diet with accompanying benzoate and phenylbutyrate administration. Linkage studies suggested the inheritance of two X chromosomes, which was confirmed by karyotype analysis. Sequencing of all exons and immediate splice site regions revealed no sequence alterations in these sections of the OTC gene. A search for skewing of X-inactivation in the liver was not possible but we did show a random pattern of X-inactivation in leukocytes. The possibility of maternal X chromosome iso-disomy in our patient was discounted by microsatellite analysis, which revealed the inheritance of two independent X chromosomes. Mutation analysis in the OTC gene has shown that approximately 20% of patients with liver biopsy confirmed OTC deficiency do not have mutations in the coding or immediate splice-site sequences of this gene. Their classification as OTC phenocopies remains speculative, awaiting clarification of the underlying DNA alteration. We report on the novel association of OTC deficiency and Klinefelter syndrome with the additional interest of a probable unusual genetic defect underlying the OTC abnormality.

  3. Recent trends in the treatment of testosterone deficiency syndrome.

    PubMed

    Hong, Bum Sik; Ahn, Tai Young

    2007-11-01

    Testosterone deficiency syndrome (TDS) is defined as a clinical and biochemical syndrome associated with advancing age and is characterized by typical symptoms and deficiency in serum testosterone levels. TDS is a result of the interaction of hypothalamo-pituitary and testicular factors. Now, treatment of TDS with testosterone is still controversial due to a lack of large, controlled clinical trials on efficacy. The risks of treatment with testosterone appear to be minimal, although long-term studies on the safety of testosterone therapy are lacking. The aim of the therapy is to establish a physiological concentration of serum testosterone in order to correct the androgen deficiency, relieve its symptoms and prevent long-term sequelae. All of the available products, despite their varying pharmacodynamic and pharmacokinetic profiles, are able to reach this goal. Newer testosterone patches seem not to cause severe skin irritation. Testosterone gels minimize the skin irritation while providing flexibility in dosing and a low discontinuation rate. Oral testosterone undecanoate (TU) is free of liver toxicity. Recent formulation of oral TU markedly increased shelf-live, a major drawback in the older preparation. Producing swings in testosterone levels rising rapidly to the supraphysiological range is not the case with the new injectable long-acting preparation of TU. To be able to rapidly react and stop treatment in cases where side-effects and contraindications are detected, the short-acting transdermal and oral delivery modes have certain advantages. However, there is no evidence that the use of an injectable long-acting TU in men with TDS has limitations in clinical application for this reason. The use of dehydroepiandrosterone is still controversial because of a lack of well designed long-term trials, although some recent studies suggest positive effects on various body systems. Only a few studies have been carried out to investigate the effect of hCG (human

  4. The ketogenic diet in children with Glut1 deficiency syndrome and epilepsy.

    PubMed

    Rauchenzauner, Markus; Klepper, Jörg; Leiendecker, Bärbel; Luef, Gerhard; Rostasy, Kevin; Ebenbichler, Christoph

    2008-11-01

    The effects of a long-term ketogenic diet in children with Glut1 deficiency syndrome on metabolism are unknown. Our results indicate a characteristic effect of a long-term ketogenic diet on glucose and lipid homeostasis in Glut1 deficiency syndrome. Although serum lipids and apolipoproteins reflect a proatherogenic lipoprotein profile, adipocytokine constellation is not indicative of enhanced cardiovascular risk.

  5. Time for international action on treating testosterone deficiency syndrome

    PubMed Central

    Carruthers, Malcolm

    2009-01-01

    Aim Testosterone deficiency is having an increasing impact on men's health because of global aging, higher levels of obesity, diabetes and metabolic syndrome and adverse environmental factors such as stress xenoestrogens and anti-androgens. The question addressed is to what extent the large body of evidence on the benefits and safety of testosterone therapy is applied in clinical practice. Methods Demographic data for men over the age of 50 from different regions of the world have been compared with the number of men in that age group estimated from sales figures to be receiving testosterone treatment. Results On the basis of estimate that 20% of men over 50 in the general population of each region could be expected to have testosterone deficiency symptoms, on average only these men (0.69%) in most European countries were receiving treatment. Proportion was higher in the UK (1.00%) and Germany (1.89%), but lower in France (0.49%), Italy (0.51%) and Russia (0.54%). Interestingly, Australia had higher figures (1.64%), in spite of tight state control measures on androgen use. The USA has the highest treatment rate (7.96%) and this is increasing rapidly. If the basis for the diagnosis was the more conventional combination of symptoms plus biochemical evidence of low total and free testosterone levels, androgen deficiency would be expected in at least 5% of men over 50, and percentage treatment rates therefore four times higher. However, even on that basis, only in the USA do these exceed 10%. Conclusions International action is urgently needed to raise awareness in the medical profession in the various countries of these remarkably low levels of testosterone treatment. Improvement in this requires education and motivation of doctors and those regulating the healthcare systems. A public awareness campaign is needed to educate men about the symptoms of testosterone deficiency and its impact on their health. PMID:19326293

  6. The acquired immune deficiency syndrome: an international health problem of increasing importance.

    PubMed

    Wofsy, C B; Mills, J

    1984-06-01

    The Acquired Immune Deficiency Syndrome (AIDS) is a new disease which first appeared in human populations about 1979. The disease is defined by the development of unusual types of cancer (e.g. Kaposi's sarcoma), or severe cellular immunodeficiency manifested by opportunistic infections (e.g. Pneumocystis carinii infection), or both. Although the etiology of AIDS is unknown, the epidemiologic evidence is consistent with an infectious agent transmitted by blood (e.g. transfusion, needle sharing) or sexual intercourse. Over three-quarters of the cases have been in homosexual or bisexual males and in intravenous drug abusers; about 5% of cases do not have recognized risk factors. A small number of cases have resulted from transfusion of blood or blood products. The early clinical manifestations are non-specific, and may include asymptomatic skin lesions, dyspnea and dry cough, weight loss, chronic diarrhea, and focal and non-focal central nervous system findings. Treatment for the associated cancers and opportunistic infections may be successful in individual instances, but the underlying immunosuppression of AIDS appears to progress inexorably and the fatality rate approaches 100% within a few years from diagnosis. Although nosocomial transmission has not been documented, infection control guidelines have been developed by analogy with hepatitis B infection.

  7. Anterior segment manifestations of human immunodeficiency virus/acquired immune deficiency syndrome

    PubMed Central

    Sudharshan, S

    2008-01-01

    Ocular complications are known to occur as a result of human immunodeficiency virus (HIV) disease. They can be severe leading to ocular morbidity and visual handicap. Cytomegalovirus (CMV) retinitis is the commonest ocular opportunistic infection seen in acquired immune deficiency syndrome (AIDS). Though posterior segment lesions can be more vision-threatening, there are varied anterior segment manifestations which can also lead to ocular morbidity and more so can affect the quality of life of a HIV-positive person. Effective antiretroviral therapy and improved prophylaxis and treatment of opportunistic infections have led to an increase in the survival of an individual afflicted with AIDS. This in turn has led to an increase in the prevalence of anterior segment and adnexal disorders. Common lesions include relatively benign conditions such as blepharitis and dry eye, to infections such as herpes zoster ophthalmicus and molluscum contagiosum and malignancies such as squamous cell carcinoma and Kaposi′s sarcoma. With the advent of highly active antiretroviral therapy, a new phenomenon known as immune recovery uveitis which presents with increased inflammation, has been noted to be on the rise. Several drugs used in the management of AIDS such as nevirapine or indinavir can themselves lead to severe inflammation in the anterior segment and adnexa of the eye. This article is a comprehensive update of the important anterior segment and adnexal manifestations in HIV-positive patients with special reference to their prevalence in the Indian population. PMID:18711264

  8. Polymorphous hemangioendothelioma in a child with acquired immunodeficiency syndrome (AIDS).

    PubMed

    Paul, Stephan R; Hurford, Matthew T; Miettinen, Markku M; Aronoff, Stephen C; Delvecchio, Michael; Grewal, Harsh; Tuluc, Madalina

    2008-03-01

    Polymorphous hemangioendotheliomas (PH) are rare and borderline malignant tumors that are among the wide range of vascular tumors. We report here a 13-year-old male presenting with a history of weight loss, opportunistic infections, and lymphadenopathy. He was determined to be HIV positive and to have acquired immunodeficiency syndrome (AIDS). A biopsy of a femoral node was diagnostic of PH. His systemic lymphadenopathy appeared to resolve with anti-retroviral therapy. This tumor should be considered within the differential diagnoses of pediatric and immunocompromised patients.

  9. Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes.

    PubMed

    Clark, Joseph F; Cecil, Kim M

    2015-03-01

    Primary care pediatricians and a variety of specialist physicians strive to define an accurate diagnosis for children presenting with impairment of expressive speech and delay in achieving developmental milestones. Within the past two decades, a group of disorders featuring this presentation have been identified as cerebral creatine deficiency syndromes (CCDS). Patients with these disorders were initially discerned using proton magnetic resonance spectroscopy of the brain within a magnetic resonance imaging (MRI) examination. The objective of this review is to provide the clinician with an overview of the current information available on identifying and treating these conditions. We explain the salient features of creatine metabolism, synthesis, and transport required for normal development. We propose diagnostic approaches for confirming a CCDS diagnosis. Finally, we describe treatment approaches for managing patients with these conditions.

  10. Kleine–Levin syndrome with comorbid iron deficiency anemia

    PubMed Central

    Jain, Rajendra Singh; Kumar, Sunil; Srivastava, Trilochan; Sannegowda, Raghavendra Bakki

    2015-01-01

    Kleine–Levin syndrome (KLS) is a rare chronic sleep disorder of unknown etiopathology, which typically occurs in adolescent males. Although the severity of symptoms and disease course varies between the KLS patients, it usually resolves spontaneously, but sometime comorbid conditions may worsen the symptoms. Herein, we report a case of KLS who presented with severe episodic hypersomnia. During episodes, the patient used to sleep as long as 20 h in a day, affecting his daily living activities. All the relevant investigations including electroencephalography, magnetic resonance imaging of brain and cerebrospinal fluid analysis were normal except for severe iron deficiency anemia (IDA). In our patient, the severity of symptoms worsened due to coexistent IDA. The treatment of IDA along with modafinil decreased the severity of symptoms and shortened the hospital stay during episodes. This might be the first case report of KLS with comorbid IDA. PMID:26634130

  11. Adult Nephrotic Syndrome and Acquired Coagulopathies: Hageman Factor Deficiency

    PubMed Central

    Branson, Herman E.; Vaziri, N. Dabir; Slater, Lewis M.

    1982-01-01

    Analysis of tests of coagulation and fibrinolysis from 20 adult nephrotics prior to the onset of therapy disclosed that 40 percent had low factor XII levels. The mean factor XI was normal. The platelet count and fibrinogen concentration were elevated. The findings of this study on adults are similar to those of Honig and Lindley21 in the nephrotic syndrome of childhood. Subjects with minimal change disease constituted a small (15 percent) but readily segregated subpopulation without evidence of fibrinolysis in association with low factor XII activity. Prolongation of the activated partial thromboplastin time corresponded in every instance with factor XII activities of ≤30 percent. Lengthening of the one stage prothrombin time was not directly attributable to factor deficiencies. PMID:7120469

  12. NAD(P)H: Quinone Oxidoreductase 1 Deficiency Conjoint with Marginal Vitamin C Deficiency Causes Cigarette Smoke Induced Myelodysplastic Syndromes

    PubMed Central

    Das, Archita; Dey, Neekkan; Ghosh, Arunava; Das, Tanusree; Chatterjee, Indu B.

    2011-01-01

    Background The etiology of myelodysplastic syndromes (MDS) is largely unknown. Exposure to cigarette smoke (CS) is reported to be associated with MDS risk. There is inconsistent evidence that deficiency of NAD(P)H-quinone: oxidoreductase 1 (NQO1) increases the risk of MDS. Earlier we had shown that CS induces toxicity only in marginal vitamin C-deficient guinea pigs but not in vitamin C-sufficient ones. We therefore considered that NQO1 deficiency along with marginal vitamin C deficiency might produce MDS in CS-exposed guinea pigs. Methodology and Principal Findings Here we show that CS exposure for 21 days produces MDS in guinea pigs having deficiency of NQO1 (fed 3 mg dicoumarol/day) conjoint with marginal vitamin C deficiency (fed 0.5 mg vitamin C/day). As evidenced by morphology, histology and cytogenetics, MDS produced in the guinea pigs falls in the category of refractory cytopenia with unilineage dysplasia (RCUD): refractory anemia; refractory thrombocytopenia that is associated with ring sideroblasts, micromegakaryocytes, myeloid hyperplasia and aneuploidy. MDS is accompanied by increased CD34(+) cells and oxidative stress as shown by the formation of protein carbonyls and 8-oxodeoxyguanosine. Apoptosis precedes MDS but disappears later with marked decrease in the p53 protein. MDS produced in the guinea pigs are irreversible. MDS and all the aforesaid pathophysiological events do not occur in vitamin C-sufficient guinea pigs. However, after the onset of MDS vitamin C becomes ineffective. Conclusions and Significance CS exposure causes MDS in guinea pigs having deficiency of NQO1 conjoint with marginal vitamin C deficiency. The syndromes are not produced in singular deficiency of NQO1 or marginal vitamin C deficiency. Our results suggest that human smokers having NQO1 deficiency combined with marginal vitamin C deficiency are likely to be at high risk for developing MDS and that intake of a moderately large dose of vitamin C would prevent MDS. PMID:21655231

  13. Attention-deficit-hyperactivity disorder and reward deficiency syndrome

    PubMed Central

    Blum, Kenneth; Chen, Amanda Lih-Chuan; Braverman, Eric R; Comings, David E; Chen, Thomas JH; Arcuri, Vanessa; Blum, Seth H; Downs, Bernard W; Waite, Roger L; Notaro, Alison; Lubar, Joel; Williams, Lonna; Prihoda, Thomas J; Palomo, Tomas; Oscar-Berman, Marlene

    2008-01-01

    Molecular genetic studies have identified several genes that may mediate susceptibility to attention deficit hyperactivity disorder (ADHD). A consensus of the literature suggests that when there is a dysfunction in the “brain reward cascade,” especially in the dopamine system, causing a low or hypo-dopaminergic trait, the brain may require dopamine for individuals to avoid unpleasant feelings. This high-risk genetic trait leads to multiple drug-seeking behaviors, because the drugs activate release of dopamine, which can diminish abnormal cravings. Moreover, this genetic trait is due in part to a form of a gene (DRD2 A1 allele) that prevents the expression of the normal laying down of dopamine receptors in brain reward sites. This gene, and others involved in neurophysiological processing of specific neurotransmitters, have been associated with deficient functions and predispose individuals to have a high risk for addictive, impulsive, and compulsive behavioral propensities. It has been proposed that genetic variants of dopaminergic genes and other “reward genes” are important common determinants of reward deficiency syndrome (RDS), which we hypothesize includes ADHD as a behavioral subtype. We further hypothesize that early diagnosis through genetic polymorphic identification in combination with DNA-based customized nutraceutical administration to young children may attenuate behavioral symptoms associated with ADHD. Moreover, it is concluded that dopamine and serotonin releasers might be useful therapeutic adjuncts for the treatment of other RDS behavioral subtypes, including addictions. PMID:19183781

  14. Hepatic disease in patients with acquired immunodeficiency syndrome (AIDS).

    PubMed

    Lodenyo, Hudson; Segal, Issy

    2004-01-01

    The acquired immunodeficiency syndrome is now the leading cause of death in the world. Liver involvement in opportunistic infections and neoplasms affecting patients with human immunodeficiency disease syndrome are common. Many of these patients also take many medicines and toxins that are potentially harmful to the liver. This is an overview on the aetiology and possible diagnostic guide to determine liver involvement in patients with HIV infection. A literature review was performed on major published series on the liver and HIV infection between 1985 and 1999, both years inclusive. Data and opinions from 5 general reviews and 31 original articles from MEDLINE on liver disease in patients with HIV infection regarding aetiology, pathology, presentation and patient evaluation are summarised. The liver is frequently affected in patients with AIDS. The majority of the patients have hepatomegaly and abnormal liver enzymes secondary to involvement with opportunities infections, AIDS associated neoplasms and drug therapy. Most of the infections reach the liver by lymphohaematogeneous spread from other sites in the body. Methodical approach in patient evaluation is therefore essential for prompt diagnosis and treatment to minimise morbidity and early mortality.

  15. Immunoglobulin deficiencies: the B-lymphocyte side of DiGeorge Syndrome.

    PubMed

    Patel, Kiran; Akhter, Javeed; Kobrynski, Lisa; Benjamin Gathmann, M A; Gathman, Benjamin; Davis, Onika; Sullivan, Kathleen E

    2012-11-01

    DiGeorge syndrome is associated with a T-lymphocyte immunodeficiency. The prevalence of hypogammaglobulinemia has not been reported. We found that 3% of patients with DiGeorge syndrome were receiving immunoglobulin replacement therapy and 6% of patients over the age of 3 years had hypogammaglobulinemia. We conclude that DiGeorge syndrome is associated with significant humoral immune deficiency.

  16. Prader-Willi syndrome and growth hormone deficiency.

    PubMed

    Aycan, Zehra; Baş, Veysel Nijat

    2014-01-01

    Prader-Willi syndrome (PWS) is a rare multisystem genetic disorder demonstrating great variability with changing clinical features during patient's life. It is characterized by severe hypotonia with poor sucking and feeding difficulties in early infancy, followed by excessive eating and gradual development of morbid obesity in later infancy or early childhood. The phenotype is most probably due to hypothalamic dysfunction which is also responsible for growth hormone (GH) and thyroid-stimulating hormone (TSH) deficiencies, central adrenal insufficiency and hypogonadism. The multidimensional problems of patients with PWS can be managed with multidisciplinary approach. Reduced GH secretion, low peak GH response to stimulation, decreased spontaneous GH secretion and low serum IGF-1 levels in PWS patients have been documented in many studies. GH therapy has multiple beneficial effects on growth and body composition, motor and mental development in PWS patients. The recommended dosage for GH is 0.5-1 mg/m2/day. GH therapy should not be started in the presence of obstructive sleep apnea syndrome, adenotonsillar hypertrophy, severe obesity and diabetes mellitus. GH treatment should be considered for patients with genetically confirmed PWS in conjunction with dietary, environmental and life-style measures.

  17. The Sobering Geography of AIDS.

    ERIC Educational Resources Information Center

    Palca, Joseph

    1991-01-01

    The rate at which the epidemic of acquired immune deficiency syndrome (AIDS) is spreading in North America, Asia, Latin America, and Africa is discussed. The number of people infected globally and in low-risk urban populations is presented. (KR)

  18. Human immunodeficiency virus (HIV) is highly associated with giant idiopathic esophageal ulcers in acquired immunodeficiency syndrome (AIDS) patients

    PubMed Central

    Lv, Bei; Cheng, Xin; Gao, Jackson; Zhao, Hong; Chen, Liping; Wang, Liwei; Huang, Shaoping; Fan, Zhenyu; Zhang, Renfang; Shen, Yinzhong; Li, Lei; Liu, Baochi; Qi, Tangkai; Wang, Jing; Cheng, Jilin

    2016-01-01

    Objective: This study aimed to determine whether the human immunodeficiency virus (HIV) exists in giant idiopathic esophageal ulcers in the patients with acquired immune deficiency syndrome (AIDS). Methods: 16 AIDS patients with a primary complaint of epigastric discomfort were examined by gastroscopy. Multiple and giant esophageal ulcers were biopsied and analyzed with pathology staining and reverse transcription-polymerase chain reaction (RT-PCR) to determine the potential pathogenic microorganisms, including HIV, cytomegalovirus (CMV) and herpes simplex viruses (HSV). Results: HIV was detected in ulcer samples from 12 out of these 16 patients. Ulcers in 2 patients were infected with CMV and ulcers in another 2 patients were found HSV positive. No obvious cancerous pathological changes were found in these multiple giant esophageal ulcer specimens. Conclusion: HIV may be one of the major causative agents of multiple benign giant esophageal ulcers in AIDS patients. PMID:27830031

  19. Pharmacotherapeutics for the AIDS Patient.

    ERIC Educational Resources Information Center

    Fife, Kenneth H.

    1991-01-01

    Anticipated shifts in the demographics of the Acquired Immune Deficiency Syndrome (AIDS) epidemic are examined, current state-of-the-art AIDS patient management is summarized, and some unique facets of drug therapy in the AIDS patient are discussed, including adverse reactions, complex drug interactions, use of investigational drugs, and…

  20. Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.

    PubMed

    Ortigoza-Escobar, Juan Darío; Molero-Luis, Marta; Arias, Angela; Oyarzabal, Alfonso; Darín, Niklas; Serrano, Mercedes; Garcia-Cazorla, Angels; Tondo, Mireia; Hernández, María; Garcia-Villoria, Judit; Casado, Mercedes; Gort, Laura; Mayr, Johannes A; Rodríguez-Pombo, Pilar; Ribes, Antonia; Artuch, Rafael; Pérez-Dueñas, Belén

    2016-01-01

    Thiamine transporter-2 deficiency is caused by mutations in the SLC19A3 gene. As opposed to other causes of Leigh syndrome, early administration of thiamine and biotin has a dramatic and immediate clinical effect. New biochemical markers are needed to aid in early diagnosis and timely therapeutic intervention. Thiamine derivatives were analysed by high performance liquid chromatography in 106 whole blood and 38 cerebrospinal fluid samples from paediatric controls, 16 cerebrospinal fluid samples from patients with Leigh syndrome, six of whom harboured mutations in the SLC19A3 gene, and 49 patients with other neurological disorders. Free-thiamine was remarkably reduced in the cerebrospinal fluid of five SLC19A3 patients before treatment. In contrast, free-thiamine was slightly decreased in 15.2% of patients with other neurological conditions, and above the reference range in one SLC19A3 patient on thiamine supplementation. We also observed a severe deficiency of free-thiamine and low levels of thiamine diphosphate in fibroblasts from SLC19A3 patients. Surprisingly, pyruvate dehydrogenase activity and mitochondrial substrate oxidation rates were within the control range. Thiamine derivatives normalized after the addition of thiamine to the culture medium. In conclusion, we found a profound deficiency of free-thiamine in the CSF and fibroblasts of patients with thiamine transporter-2 deficiency. Thiamine supplementation led to clinical improvement in patients early treated and restored thiamine values in fibroblasts and cerebrospinal fluid.

  1. Human Subjects Issues in AIDS Research.

    ERIC Educational Resources Information Center

    Bayer, Ronald, Ed.

    1990-01-01

    Six articles are presented on the use of human subjects in research on acquired immune deficiency syndrome (AIDS). Topics include the ethics of human experimentation, female and pediatric AIDS patients, Human Immunodeficiency Virus (HIV) infection and AIDS among correctional inmates, community-based AIDS research, and clinical trials of HIV…

  2. Progressive multifocal leukoencephalopathy in a patient with acquired immunodeficiency syndrome (AIDS) manifesting Gerstmann's syndrome.

    PubMed

    Saito, H; Sakai, H; Fujihara, K; Fujihara, K; Itoyama, Y

    1998-11-01

    We reported a case of acquired immunodeficiency syndrome (AIDS) via multiple blood transfusions, who manifested progressive multifocal leukoencephalopathy (PML) about 18 months after the development of AIDS. PML initiated with right hemiparesis, dysphasia, and Gerstmann's syndrome and resulted in death within 2 months after the onset. Neuroimaging examinations revealed white matter lesions mainly in the left posterior parietal lobe. The cortical gray matter also showed abnormal signal intensity. Peripheral CD4+ lymphocyte count was 81/microl. Routine cerebrospinal fluid (CSF) examinations were negative. CSF antibodies against herpes simplex virus, varicella-zoster virus, cytomegalovirus, Epstein-Barr virus as well as serum antibody against toxoplasma gondii were negative. Though autopsy or biopsy of the brain was not performed, JC virus genomes were detected in the CSF sample by a polymerase chain reaction, and their sequencing showed unique alterations of the regulatory regions, characteristic to PML-type JC virus.

  3. Attitudes of Dental Faculty toward Individuals with AIDS.

    ERIC Educational Resources Information Center

    Cohen, Leonard A.; Grace, Edward G., Jr.

    1989-01-01

    A survey of one dental school's faculty concerning attitudes toward homosexual or heterosexual patients with either Acquired Immune Deficiency Syndrome (AIDS) or leukemia found significant negative biases both toward individuals with AIDS and toward homosexuals. (MSE)

  4. AIDS Fact Pack.

    ERIC Educational Resources Information Center

    Center for Population Options, Washington, DC.

    The three fact sheets presented in this document address issues surrounding adolescent sexuality and sexually transmitted diseases (STDs), especially the Acquired Immune Deficiency Syndrome (AIDS). The first fact sheet, "Young Women and AIDS: A Worldwide Perspective," suggests that since open discussions of adolescent sexuality have long been…

  5. AIDS as Metaphor.

    ERIC Educational Resources Information Center

    McMillen, Liz

    1994-01-01

    Scholarly interest in Acquired Immune Deficiency Syndrome (AIDS) has spread throughout the humanities, attracting the attention of historians of medicine, political scientists, sociologists, public health scholars, and anthropologists. Most theorists hope their research will aid in policymaking or change understanding of the epidemic. (MSE)

  6. Preventing AIDS via Education.

    ERIC Educational Resources Information Center

    House, Reese M.; Walker, Catherine M.

    1993-01-01

    Compares the Acquired Immune Deficiency Syndrome (AIDS) epidemic to past epidemics, including social and political responses. Identifies populations at risk for human immunodeficiency virus (HIV) infection. Discusses current social and economic factors affecting AIDS education programs. Makes recommendations and identifies resources for starting…

  7. AIDS: Children Too.

    ERIC Educational Resources Information Center

    Lejeune, Genevieve, Ed.

    1994-01-01

    This journal issue is devoted to the many problems faced by children with Acquired Immune Deficiency Syndrome (AIDS) who live in both developing and developed countries. Section 1 provides general information on the pandemic, defining AIDS and exploring the social aspects of the disease. It also addresses child health, child mortality, moral and…

  8. AIDS Epidemiological models

    NASA Astrophysics Data System (ADS)

    Rahmani, Fouad Lazhar

    2010-11-01

    The aim of this paper is to present mathematical modelling of the spread of infection in the context of the transmission of the human immunodeficiency virus (HIV) and the acquired immune deficiency syndrome (AIDS). These models are based in part on the models suggested in the field of th AIDS mathematical modelling as reported by ISHAM [6].

  9. Alaska's State Aid to Public Schools Formula: Deficiencies, Suggestions, and the Effects of House Bill 212. A Discussion Paper.

    ERIC Educational Resources Information Center

    Foote, Tom H.

    Because of its diversity of land and people, the challenge of constructing an equitable state aid formula is probably greater for the state of Alaska than for any state in the union. Alaska's present state-aid formula is deficient in at least eight distinct areas: (1) The labels of the formula variables are not relevant to the quantities they…

  10. Platelet peroxidase deficiency in a case of myelodysplastic syndrome with myelofibrosis.

    PubMed Central

    Imbert, M; Jarry, M T; Tulliez, M; Breton-Gorius, J

    1983-01-01

    Morphological and functional abnormalities of the megakaryocytic series have been well described in myelodysplastic syndromes. Platelet peroxidase has always been demonstrated in abnormal megakaryocytes and early megakaryoblasts in such syndromes. We have studied a case of myelodysplastic syndrome with marked morphological abnormalities of megakaryocytes in which ultrastructural studies showed the coexistence of platelet peroxidase positive and platelet peroxidase negative megakaryocytes. This enzymatic deficiency was confirmed by the ultrastructural study of circulating platelets. This case appears to be the first report of a partial platelet peroxidase deficiency. It adds to the enzymatic abnormalities in myelodysplastic syndrome already described for the red cells and the granulocytic cells. Images PMID:6630573

  11. Opportunistic Neurologic Infections in Patients with Acquired Immunodeficiency Syndrome (AIDS).

    PubMed

    Albarillo, Fritzie; O'Keefe, Paul

    2016-01-01

    Infections of the central nervous system (CNS) in individuals with human immunodeficiency virus (HIV) remain a substantial cause of morbidity and mortality despite the introduction of highly active antiretroviral therapy (HAART) especially in the resource-limited regions of the world. Diagnosis of these infections may be challenging because findings on cerebrospinal fluid (CSF) analysis and brain imaging are nonspecific. While brain biopsy provides a definitive diagnosis, it is an invasive procedure associated with a relatively low mortality rate, thus less invasive modalities have been studied in recent years. Diagnosis, therefore, can be established based on a combination of a compatible clinical syndrome, radiologic and CSF findings, and understanding of the role of HIV in these infections. The most common CNS opportunistic infections are AIDS-defining conditions; thus, treatment of these infections in combination with HAART has greatly improved survival.

  12. The AIDS Challenge: Prevention Education for Young People.

    ERIC Educational Resources Information Center

    Quackenbush, Marcia, Ed.; And Others

    This book on Acquired Immune Deficiency Syndrome (AIDS) education was developed by national and international experts to aid educators, professionals, parents, and youth leaders in developing and implementing AIDS education programs. Included are: (1) "Living with AIDS" (Jack Martin Balcer); (2) "The AIDS Epidemic: Problems in Limiting Its Impact"…

  13. Hepatitis in children with acquired immune deficiency syndrome. Histopathologic and immunocytologic features.

    PubMed

    Duffy, L F; Daum, F; Kahn, E; Teichberg, S; Pahwa, R; Fagin, J; Kenigsberg, K; Kaplan, M; Fisher, S E; Pahwa, S

    1986-01-01

    Hepatic morphology and immunocytology were evaluated in 4 children with clinical and immunologic characteristics of the acquired immune deficiency syndrome or acquired immune deficiency syndrome related complex. All 4 children had hepatomegaly and increased serum alanine and aspartate aminotransferase activity. Both lobular and portal changes were noted. Lymphocytic infiltration, piecemeal necrosis, hepatocellular and bile duct damage, sinusoidal cell hyperplasia, and endothelialitis were prominent. Vesicular rosettes in sinusoidal lymphocytes and tubuloreticular structures in sinusoidal endothelial cells were demonstrated by electron microscopy. The lymphocytic infiltrate in both the lobular and portal spaces was characterized by a relative increase of cytotoxic/suppressor (T8) cells. Hepatitis may be a common feature of pediatric acquired immune deficiency syndrome and acquired immune deficiency syndrome-related complex. Although the histopathologic changes are consistent with chronic active hepatitis, the specific pathogenesis remains to be determined.

  14. Concomitant occurrence of Turner syndrome and growth hormone deficiency.

    PubMed

    Yu, Jung; Shin, Ha Young; Lee, Chong Guk; Kim, Jae Hyun

    2016-11-01

    Turner syndrome (TS) is a genetic disorder in phenotypic females that has characteristic physical features and presents as partial or complete absence of the second sex chromosome. Growth hormone deficiency (GHD) is a condition caused by insufficient release of growth hormone from the pituitary gland. The concomitant occurrence of TS and GHD is rare and has not yet been reported in Korea. Here we report 2 cases of TS and GHD. In case 1, GHD was initially diagnosed. Karyotyping was performed because of the presence of the typical phenotype and poor response to growth hormone therapy, which revealed 45,X/45,X+mar. The patient showed increased growth velocity after the growth hormone dose was increased. In case 2, a growth hormone provocation test and chromosomal analysis were performed simultaneously because of decreased growth velocity and the typical TS phenotype, which showed GHD and a mosaic karyotype of 45,X/46,XX. The patient showed spontaneous pubertal development. In female patients with short stature, it is important to perform a throughout physical examination and test for hormonal and chromosomal abnormalities because diagnostic accuracy is important for treatment and prognosis.

  15. Complications of bariatric surgery: dumping syndrome, reflux and vitamin deficiencies.

    PubMed

    Tack, Jan; Deloose, Eveline

    2014-08-01

    Bariatric surgical procedure are increasingly and successfully applied in the treatment of morbid obesity. Nevertheless, these procedures are not devoid of potential long-term complications. Dumping syndrome may occur after procedures involving at least partial gastric resection or bypass, including Roux-en-Y gastric bypass (RYGB) and sleeve gastrectomy. Diagnosis is based on clinical alertness and glucose tolerance testing. Treatment may involve dietary measures, acarbose and somatostatin analogues, or surgical reintervention for refractory cases. Gastro-esophageal reflux disease (GERD) can be aggravated by vertical banded gastroplasty and sleeve gastrectomy procedures, but pre-existing GERD may improve after RYGB and with adjustable gastric banding. Nutrient deficiencies constitute the most important long-term complications of bariatric interventions, as they may lead to haematological, metabolic and especially neurological disorders which are not always reversible. Malabsorptive procedures, poor postoperative nutrient intake, recurrent vomiting and poor compliance with vitamin supplement intake and regular follow-up are important risk factors. Preoperative nutritional assessment and rigourous postoperative follow-up plan with administration of multi-vitamin supplements and assessment of serum levels is recommended in all patients.

  16. Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome

    PubMed Central

    Haas, Dorothea; Hoffmann, Georg F

    2006-01-01

    Mevalonic aciduria (MVA) and hyperimmunoglobulinemia D syndrome (HIDS) represent the two ends of a clinical spectrum of disease caused by deficiency of mevalonate kinase (MVK), the first committed enzyme of cholesterol biosynthesis. At least 30 patients with MVA and 180 patients with HIDS have been reported worldwide. MVA is characterized by psychomotor retardation, failure to thrive, progressive cerebellar ataxia, dysmorphic features, progressive visual impairment and recurrent febrile crises. The febrile episodes are commonly accompanied by hepatosplenomegaly, lymphadenopathy, abdominal symptoms, arthralgia and skin rashes. Life expectancy is often compromised. In HIDS, only febrile attacks are present, but a subgroup of patients may also develop neurological abnormalities of varying degree such as mental retardation, ataxia, ocular symptoms and epilepsy. A reduced activity of MVK and pathogenic mutations in the MVK gene have been demonstrated as the common genetic basis in both disorders. In MVA, the diagnosis is established by detection of highly elevated levels of mevalonic acid excreted in urine. Increased levels of immunoglobulin D (IgD) and, in most patients of immunoglobulin A (IgA), in combination with enhanced excretion of mevalonic acid provide strong evidence for HIDS. The diagnosis is confirmed by low activity of mevalonate kinase or by demonstration of disease-causing mutations. Genetic counseling should be offered to families at risk. There is no established successful treatment for MVA. Simvastatin, an inhibitor of HMG-CoA reductase, and anakinra have been shown to have beneficial effect in HIDS. PMID:16722536

  17. Concomitant occurrence of Turner syndrome and growth hormone deficiency

    PubMed Central

    Yu, Jung; Shin, Ha Young; Lee, Chong Guk

    2016-01-01

    Turner syndrome (TS) is a genetic disorder in phenotypic females that has characteristic physical features and presents as partial or complete absence of the second sex chromosome. Growth hormone deficiency (GHD) is a condition caused by insufficient release of growth hormone from the pituitary gland. The concomitant occurrence of TS and GHD is rare and has not yet been reported in Korea. Here we report 2 cases of TS and GHD. In case 1, GHD was initially diagnosed. Karyotyping was performed because of the presence of the typical phenotype and poor response to growth hormone therapy, which revealed 45,X/45,X+mar. The patient showed increased growth velocity after the growth hormone dose was increased. In case 2, a growth hormone provocation test and chromosomal analysis were performed simultaneously because of decreased growth velocity and the typical TS phenotype, which showed GHD and a mosaic karyotype of 45,X/46,XX. The patient showed spontaneous pubertal development. In female patients with short stature, it is important to perform a throughout physical examination and test for hormonal and chromosomal abnormalities because diagnostic accuracy is important for treatment and prognosis. PMID:28018463

  18. Blood donors at high risk of transmitting the acquired immune deficiency syndrome.

    PubMed

    Contreras, M; Hewitt, P E; Barbara, J A; Mochnaty, P Z

    1985-03-09

    The acquired immune deficiency syndrome (AIDS) occurs most commonly in homosexual men. This group carries the greatest risk of transmitting AIDS by blood transfusion. Both promiscuous and nonpromiscuous male homosexuals should refrain from giving blood. A leaflet stating this advice was prepared by the Department of Health and Social Security, United Kingdom. In July 1984 a questionnaire was given to all donors attending a blood donor clinic in the west end of London, England. 53% were male. Donors were given a leaflet on AIDS and a questionnaire to complete in private. Those who considered themselves to be in a high risk group were asked to designate their blood for research purposes only. Serum samples from donors who confirmed that they were in the high risk category were tested for antihepatitis B core antigen and anti-human T lymphotropic virus type III (anti-HTLV-III) in addition to the routine screening of donors for hepatitis B surface antigen and syphilis. All high risk donors were men. Homosexuality was the only high risk factor. Of 5000 questionnaires administered between July and October, 614 were not completed or had ambiguous answers. 38 donors who completed the questionnaire beonged to a high risk group. Of these, 7 were positive for antihepatitis B core antigen; none were positive for anti-HTLV-III, T pallidum hemagglatination, or hepatits B surface antigen. Although the homosexual donors had a much lower incidence of sexually transmitted disease than those attending special clinics, this should not encourage complacency. All possible measures must be taken to prevent homosexuals from donating blood.

  19. Extrachromosomal sequences of hepatitis B virus DNA in peripheral blood mononuclear cells of acquired immune deficiency syndrome patients.

    PubMed

    Noonan, C A; Yoffe, B; Mansell, P W; Melnick, J L; Hollinger, F B

    1986-08-01

    The primary etiologic agent of the acquired immune deficiency syndrome (AIDS) is a human T-lymphotropic retrovirus (the AIDS virus). However, the pathogenesis of this virus suggests that other cofactors may contribute to the development of clinically overt disease. The hepatitis B virus (HBV) has been implicated as a potential cofactor because HBV and AIDS virus infections frequently coexist, striking similarities exist in their epidemiologic patterns, and recent data indicate that HBV is lymphotropic. To establish the prevalence of HBV infections in lymphoid cells from individuals with AIDS-related disorders, sera and peripheral blood mononuclear cells (PBMC) from 16 males with AIDS virus infections were examined for the presence of HBV DNA by DNA X DNA blot hybridization. Fifteen (94%) of these individuals had serologic evidence of a recent or prior HBV infection. HBV DNA was detected in the PBMC of all of these patients, regardless of existing HBV serology. Among the 36 control individuals without AIDS-related symptomatology, PBMC-associated HBV DNA was detected in 8 of 14 carriers of hepatitis B surface antigen (HBsAg) and in 3 of 10 individuals immune to HBV, but it was absent from the PBMC of 12 individuals without HBV infection. In all instances, the HBV DNA was extrachromosomal and existed as replicative intermediates or high molecular weight oligomers of the viral genome. Replicative intermediates and serum-associated HBV DNA were detected in all hepatitis B e antigen-positive carriers, regardless of their clinical status. In contrast, the high molecular weight oligomers of HBV DNA were detected in the PBMC of all of the AIDS virus-infected patients examined, but in only 33% of those in the control group who had evidence of HBV infection. This finding suggests that a unique and complex HBV-host-cell interaction exists in patients infected with the AIDS virus.

  20. Dopamine and glucose, obesity, and reward deficiency syndrome

    PubMed Central

    Blum, Kenneth; Thanos, Panayotis K.; Gold, Mark S.

    2014-01-01

    Obesity as a result of overeating as well as a number of well described eating disorders has been accurately considered to be a world-wide epidemic. Recently a number of theories backed by a plethora of scientifically sound neurochemical and genetic studies provide strong evidence that food addiction is similar to psychoactive drug addiction. Our laboratory has published on the concept known as Reward Deficiency Syndrome (RDS) which is a genetic and epigenetic phenomena leading to impairment of the brain reward circuitry resulting in a hypo-dopaminergic function. RDS involves the interactions of powerful neurotransmitters and results in abnormal craving behavior. A number of important facts which could help translate to potential therapeutic targets espoused in this focused review include: (1) consumption of alcohol in large quantities or carbohydrates binging stimulates the brain’s production of and utilization of dopamine; (2) in the meso-limbic system the enkephalinergic neurons are in close proximity, to glucose receptors; (3) highly concentrated glucose activates the calcium channel to stimulate dopamine release from P12 cells; (4) a significant correlation between blood glucose and cerebrospinal fluid concentrations of homovanillic acid the dopamine metabolite; (5) 2-deoxyglucose (2DG), the glucose analog, in pharmacological doses is associated with enhanced dopamine turnover and causes acute glucoprivation. Evidence from animal studies and fMRI in humans support the hypothesis that multiple, but similar brain circuits are disrupted in obesity and drug dependence and for the most part, implicate the involvement of DA-modulated reward circuits in pathologic eating behaviors. Based on a consensus of neuroscience research treatment of both glucose and drug like cocaine, opiates should incorporate dopamine agonist therapy in contrast to current theories and practices that utilizes dopamine antagonistic therapy. Considering that up until now clinical utilization

  1. Hyper-IgD syndrome/mevalonate kinase deficiency: what is new?

    PubMed

    Mulders-Manders, C M; Simon, A

    2015-07-01

    Mevalonate kinase deficiency or hyper-IgD syndrome is a hereditary autoinflammatory syndrome caused by mutations in the mevalonate kinase gene. In this review, we will discuss new findings in this disorder that have been published in the last 2 years. This includes new insights into pathophysiology, treatment, and the clinical phenotype linked to the genetic defect.

  2. Children, Teachers and the AIDS Curriculum.

    ERIC Educational Resources Information Center

    Silin, Jonathan G.

    For schools, acquired immune deficiency syndrome (AIDS) initially represented a policy problem requiring legal and public health experts to assess their ability to exclude students or staff infected with the human immuno-deficiency virus. As the crisis over the potential presence of people with AIDS in the schools abated and with the growing…

  3. Lactate administration and fatty liver and kidney syndrome development in biotin-deficient chicks.

    PubMed

    Balnave, D; Pearce, J

    1979-01-01

    Two experiments were carried out to determine whether administration of lactate to biotin-deficient chicks induced fatty liver and kidney syndrome (FLKS). 2. The results suggest that increased serum lactate concentrations are a consequence of the syndrome rather than a contributory factor in its incidence. 3. The increase in liver lipids of birds affected by FLKS was not associated with an increase in the specific activity of the hepatic lipogenic enzyme acetyl CoA carboxylase accept when birds developed FLKS spontaneously in experiment 2. 4. Some biotin-deficient chicks did not show physical symptoms of deficiency although mean liver biotin concentrations were low (0.31 microgram/g liver).

  4. Computer-analyzed EEG (CEEG) and dynamic brain mapping in AIDS and HIV related syndrome: a pilot study.

    PubMed

    Itil, T M; Ferracuti, S; Freedman, A M; Sherer, C; Mehta, P; Itil, K Z

    1990-07-01

    In a group of HIV positive young male patients without any significant neuropsychiatric signs, computer-analyzed EEG (CEEG) and Dynamic Brain Mapping evaluations were conducted. These patients, who only had micro-neuropsychiatric symptoms, demonstrated CEEG profiles that more closely resemble those of patients diagnosed as suffering from mild dementia than age-related normals from our CEEG data base. The CEEGs of patients diagnosed as having Acquired Immune Deficiency Syndrome (AIDS), compared to patients with HIV positive, showed greater similarity in CEEG patterns to severely demented patients than to normal control groups. The findings of this pilot study suggest that CEEG may be useful for early determination of the Central Nervous System's (CNS) involvement with the AIDS virus and monitoring the progress of the illness.

  5. Computer aided morphometry of the neonatal fetal alcohol syndrome face

    NASA Astrophysics Data System (ADS)

    Chik, Lawrence; Sokol, Robert J.; Martier, Susan S.

    1993-09-01

    Facial dysmorphology related to Fetal Alcohol Syndrome (FAS) has been studied from neonatal snapshots with computer-aided imaging tools by looking at facial landmarks and silhouettes. Statistical methods were used to characterize FAS-related midfacial hypoplasia by using standardized landmark coordinates of frontal and profile snapshots. Additional analyses were performed by tracing a segment of the facial silhouettes from the profile snapshots. In spite of inherent distortions due to the coordinate standardization procedure, controlled for race, three significant facial landmark coordinates accounted for 30.6% of the explained variance of FAS. Residualized for race, eight points along the silhouettes were shown to be significant in explaining 45.8% of the outcome variance. Combining the landmark coordinates and silhouettes points, 57% of the outcome variance was explained. Finally, including birthweight with landmark coordinates and silhouettes, 63% of the outcome variance was explained, with a jackknifed sensitivity of 95% (19/20) and a specificity of 92.9% (52/56).

  6. Primary central nervous system lymphoma in acquired immune deficiency syndrome mimicking toxoplasmosis.

    PubMed

    Utsuki, Satoshi; Oka, Hidehiro; Abe, Katsutoshi; Osawa, Shigeyuki; Yamazaki, Tomoya; Yasui, Yoshie; Fujii, Kiyotaka

    2011-02-01

    A 37-year-old man, a hepatitis B virus carrier due to mother-to-child transmission, had a medical examination in September 2008 in nearby hospitals due to anorexia and weight loss. He was transported to our hospital because computed tomography (CT) detected intracranial lesions, and he had a positive human immunodeficiency virus (HIV) antibody test. Head computed tomography (CT) revealed multiple hemorrhagic lesions and enhancement effect, suggesting a thin wall. Also, an enhancement effect was present in the ventricle walls and the subarachnoid space. No accumulation was found in the thallium-201 scintigraphy. The enhancement effect of the ventricle walls and the subarachnoid space disappeared after oral administration of pyrimethamine, sulfadiazine, and calcium folinate, contributing to the diagnosis of an abscess and meningitis due to toxoplasma. However, mass lesions did not reduce. A biopsy was performed on 30 October, and the pathological diagnosis was malignant lymphoma. He died from respiratory function deterioration on 8 November. Lymphoma cells were found in ventricle wall tissue and the subarachnoid space at the autopsy. Toxoplasmosis will typically occur as a brain lesion most commonly in acquired immune deficiency syndrome (AIDS), whereas malignant lymphoma commonly manifests as a brain neoplastic lesion. However, differentiating between images of these lesions is difficult, so diagnosis by early biopsy is recommended.

  7. Predictive factors for the Nursing Diagnoses in people living with Acquired Immune Deficiency Syndrome 1

    PubMed Central

    da Silva, Richardson Augusto Rosendo; Costa, Romanniny Hévillyn Silva; Nelson, Ana Raquel Cortês; Duarte, Fernando Hiago da Silva; Prado, Nanete Caroline da Costa; Rodrigues, Eduardo Henrique Fagundes

    2016-01-01

    Abstract Objective: to identify the predictive factors for the nursing diagnoses in people living with Acquired Immune Deficiency Syndrome. Method: a cross-sectional study, undertaken with 113 people living with AIDS. The data were collected using an interview script and physical examination. Logistic regression was used for the data analysis, considering a level of significance of 10%. Results: the predictive factors identified were: for the nursing diagnosis of knowledge deficit-inadequate following of instructions and verbalization of the problem; for the nursing diagnosis of failure to adhere - years of study, behavior indicative of failure to adhere, participation in the treatment and forgetfulness; for the nursing diagnosis of sexual dysfunction - family income, reduced frequency of sexual practice, perceived deficit in sexual desire, perceived limitations imposed by the disease and altered body function. Conclusion: the predictive factors for these nursing diagnoses involved sociodemographic and clinical characteristics, defining characteristics, and related factors, which must be taken into consideration during the assistance provided by the nurse. PMID:27384466

  8. [Central neurobiological mechanism of liver depression and spleen deficiency syndrome based on chronic stress: a review].

    PubMed

    Li, Xiao-hong; Li, Jing-jing; Liu, Yue-yun; Chen, Jia-xu

    2012-01-01

    Some researchers focus on research of the nature of syndromes. The methods of combining traditional Chinese medicine syndrome and diseases and the correspondence between formulas and syndromes may be used in research of the nature of syndromes. According to combined theories of zang-organ state and seven emotions in traditional Chinese medicine with stress theory in modern medicine, the authors applied the methods of chronic immobilization stress to induce liver depression and spleen deficiency syndrome in rats based on the thinking of relativity on formula and syndrome. The research showed that the central neurobiology mechanism of liver depression and spleen deficiency syndrome closely correlates to the hypothalamic-pituitary-adrenal axis, brain-gut axis, myriad central neurotrophic factors, neurotransmitters, neuropeptides and hormones and their receptors, involving in many encephalic regions such as the hypothalamus, hippocampus, cortex, amygdale, etc. The authors will combine their previous work with multi-disciplinary research, such as genomics, proteomics, metabolomics and bioinformatics in future studies, to reveal the scientific connotations of liver depression and spleen deficiency syndrome.

  9. A pilot study of surrogate tests to prevent transmission of acquired immune deficiency syndrome by transfusion.

    PubMed

    Simon, T L; Bankhurst, A D

    1984-01-01

    Because of reports that acquired immune deficiency syndrome (AIDS) might be transmissible by blood transfusion, we studied potential surrogate tests that could be used for screening donors. Male donors at one volunteer blood center and two plasma centers were screened for total lymphocyte count, OKT3, OKT4, OKT8, OKT11, LEU-7, LEU-M2, antibodies to hepatitis B core (anti-HBc), cytomegalovirus (CMV), and herpes and circulating immune complexes. Total lymphocyte counts and the OKT11 were significantly lower in one plasma center. No significant differences were found for the other lymphocyte or monocyte tests. Low T4/T8 ratios, found in 20 percent of donors, did not correlate with other abnormalities. A small percentage (3.3%) of volunteer donors, 15.4 percent at one plasma center and 20.8 percent at a second plasma center, and 38.5 percent of the male homosexual donors were positive for anti-HBc (significant when comparing the male homosexuals to the volunteers at p = 0.032). Positive CMV and herpes titers were similar in the groups. Circulating immune complex levels greater than two standard deviations above the mean were found in 20 percent of the volunteer donors, 7.7 percent at one plasma center and 8.3 percent at the second plasma center, and none in the male homosexual population. Pearson product moment correlations showed reasonably good agreement among the lymphocyte tests. However, the anti-HBc, CMV, and herpes antibodies and circulating immune complex levels did not correlate with any of the other tests. Surrogate tests for AIDS are nonspecific and unlikely to be helpful in screening blood donor units.

  10. Growth hormone deficiency and pituitary malformation in a recurrent Cat-Eye syndrome: a family report.

    PubMed

    Jedraszak, Guillaume; Braun, Karine; Receveur, Aline; Decamp, Matthieu; Andrieux, Joris; Rabbind Singh, Amrathlal; Copin, Henri; Bremond-Gignac, Dominique; Mathieu, Michèle; Rochette, Jacques; Morin, Gilles

    2015-10-01

    Growth hormone deficiency affects roughly between one in 3000 and one in 4000 children with most instances of growth hormone deficiency being idiopathic. Growth hormone deficiency can also be associated with genetic diseases or chromosome abnormalities. Association of growth hormone deficiency together with hypothalamic-pituitary axis malformation and Cat-Eye syndrome is a very rare condition. We report a family with two brothers presenting with growth delay due to a growth hormone deficiency associated with a polymalformation syndrome. They both displayed pre-auricular pits and tags, imperforate anus and Duane retraction syndrome. Both parents and a third unaffected son displayed normal growth pattern. Cerebral MRI showed a hypothalamic-pituitary axis malformation in the two affected brothers. Cytogenetic studies revealed a type I small supernumerary marker chromosome derived from chromosome 22 resulting in a tetrasomy 22pter-22q11.21 characteristic of the Cat-Eye syndrome. The small supernumerary marker chromosome was present in the two affected sons and the mother in a mosaic state. Patients with short stature due to growth hormone deficiency should be evaluated for chromosomal abnormality. Family study should not be underestimated.

  11. Providing Empowerment to the Person with AIDS.

    ERIC Educational Resources Information Center

    Haney, Patrick

    1988-01-01

    Describes author's experiences after his own diagnoses of Acquired Immune Deficiency Syndrome (AIDS) Related Complex (ARC) and AIDS itself. Discusses six ways for social workers to provide empowerment to persons with AIDS, which focus on the positive, the healing power of caring, reconnections, direction, victim mindset, and advocacy. (ABL)

  12. AIDS: A Strain on Family Relations.

    ERIC Educational Resources Information Center

    Cleveland, Peggy H.

    A diagnosis of Acquired Immune Deficiency Syndrome (AIDS) has both a physical and psychosocial impact that require substantial support. Relating to the families of origin concerning an AIDS diagnosis is a difficult task which sometimes results in rejection and sometimes results in support. In this study subjects (N=32) with AIDS described their…

  13. Living with HIV/AIDS in School.

    ERIC Educational Resources Information Center

    Sedletter, 1993

    1993-01-01

    This newsletter article is concerned with understanding what schools can and must do to sustain life in the age of human immunodeficiency virus and Acquired Immune Deficiency Syndrome (HIV/AIDS). The article looks at the incidence of AIDS and reviews legislation related to AIDS infection and school attendance. School policy as it relates to…

  14. Small intestinal lymphoma in three patients with acquired immune deficiency syndrome.

    PubMed

    Steinberg, J J; Bridges, N; Feiner, H D; Valensi, Q

    1985-01-01

    Three cases of small bowel lymphoma in young homosexual men are presented. All three had acquired immune deficiency syndrome as demonstrated by demography, sexual history, cachexia, opportunistic infections by Cytomegalovirus, Pneumocystis carinii, atypical Mycobacterium, Candida, and/or evidence of immune deficiency, such as skin test anergy, lymphopenia, inversion of T-helper/T-suppressor ratio, and diminished lymphocyte response to either phytohemmaglutinin or pokeweed mitogen. All had peripheral and/or abdominal lymphadenopathy, and gastrointestinal symptoms, e.g., diarrhea, spasms, constipation, and oral candidiasis. The diagnosis of lymphoma was made at laparotomy in all cases. All three had complete removal of localized tumor (stage Ie or IIe), yet died within 6 months of surgery and/or chemotherapy. Thus gastrointestinal complaints may not always be related to "gay bowel" syndrome, or other infectious diseases in patients with acquired immune deficiency syndrome. Small intestinal lymphoma should be added to the list of neoplasms to which this group is susceptible.

  15. AIDS Resource Manual for Educators.

    ERIC Educational Resources Information Center

    Edwards, Sara A., Ed.; And Others

    This manual presents, for educators, known facts about Acquired Immune Deficiency Syndrome (AIDS), how it is transmitted, and how it can be prevented. Answers to common questions about AIDS are listed and a summary sheet is provided. A resource list is included that contains names, addresses, and phone numbers of organizations that produce or…

  16. Severe chronic iron deficiency anaemia secondary to Trichuris dysentery syndrome - a case report.

    PubMed

    Azira N, M S; Zeehaida, M

    2012-12-01

    Trichuris dysentery syndrome is caused by Trichuris trichiura which contributes to one of the most common helminthic infections in the world. It is associated with heavy colonic infection that manifests as mucoid diarrhoea, rectal bleeding, rectal prolapse, iron deficiency anaemia, and finger clubbing. Here, we report a case of trichuris dysentery syndrome complicated with severe chronic iron deficiency anaemia in a 4-year-old girl who required blood transfusion. The nematode was visualized on stool microscopic and colonoscopic examination. A longer duration of anti-helminthic treatment is required to achieve effective and better outcome.

  17. Diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency in adults.

    PubMed

    Lambotte, Olivier; Neven, Bénédicte; Galicier, Lionel; Magerus-Chatinet, Aude; Schleinitz, Nicolas; Hermine, Olivier; Meyts, Isabelle; Picard, Capucine; Godeau, Bertrand; Fischer, Alain; Rieux-Laucat, Frédéric

    2013-03-01

    A diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency during adulthood is unusual. We analyzed 17 cases of autoimmune lymphoproliferative syndrome caused by FAS deficiency diagnosed during adulthood in French reference centers for hereditary immunodeficiencies and for immune cytopenias. Twelve of the 17 patients had developed their first symptoms during childhood. The diagnosis of autoimmune lymphoproliferative syndrome had been delayed for a variety of reasons, including unusual clinical manifestations, late referral to a reference center, and the occurrence of somatic FAS mutations. The 5 other patients presented their first symptoms after the age of 16 years. In these patients, three germline heterozygous FAS mutations were predicted to be associated with haploinsufficiency and a somatic event on the second FAS allele was observed in 2 cases. Autoimmune lymphoproliferative syndrome may well be diagnosed in adulthood. The occurrence of additional genetic events may account for the delayed disease onset.

  18. Brainstem Serotonergic Deficiency in Sudden Infant Death Syndrome

    PubMed Central

    Duncan, Jhodie R.; Paterson, David S.; Hoffman, Jill M.; Mokler, David J.; Borenstein, Natalia S.; Belliveau, Richard A.; Krous, Henry F.; Haas, Elisabeth A.; Stanley, Christina; Nattie, Eugene E.; Trachtenberg, Felicia L.; Kinney, Hannah C.

    2011-01-01

    Context Sudden infant death syndrome (SIDS) is postulated to result from abnormalities in brainstem control of autonomic function and breathing during a critical developmental period. Abnormalities of serotonin (5-hydroxytryptamine [5-HT]) receptor binding in regions of the medulla oblongata involved in this control have been reported in infants dying from SIDS. Objective To test the hypothesis that 5-HT receptor abnormalities in infants dying from SIDS are associated with decreased tissue levels of 5-HT, its key biosynthetic enzyme (tryptophan hydroxylase [TPH2]), or both. Design, Setting, and Participants Autopsy study conducted to analyze levels of 5-HT and its metabolite, 5-hydroxyindoleacetic acid (5-HIAA); levels of TPH2; and 5-HT1A receptor binding. The data set was accrued between 2004 and 2008 and consisted of 41 infants dying from SIDS (cases), 7 infants with acute death from known causes (controls), and 5 hospitalized infants with chronic hypoxia-ischemia. Main Outcome Measures Serotonin and metabolite tissue levels in the raphé obscurus and paragigantocellularis lateralis (PGCL); TPH2 levels in the raphé obscurus; and 5-HT1A binding density in 5 medullary nuclei that contain 5-HT neurons and 5 medullary nuclei that receive 5-HT projections. Results Serotonin levels were 26% lower in SIDS cases (n = 35) compared with age-adjusted controls (n = 5) in the raphé obscurus (55.4 [95% confidence interval {CI}, 47.2–63.6] vs 75.5 [95% CI, 54.2–96.8] pmol/mg protein, P = .05) and the PGCL (31.4 [95% CI, 23.7–39.0] vs 40.0 [95% CI, 20.1–60.0] pmol/mg protein, P = .04). There was no evidence of excessive 5-HT degradation assessed by 5-HIAA levels, 5-HIAA:5-HT ratio, or both. In the raphé obscurus, TPH2 levels were 22% lower in the SIDS cases (n = 34) compared with controls (n = 5) (151.2% of standard [95% CI, 137.5%–165.0%] vs 193.9% [95% CI, 158.6%–229.2%], P = .03). 5-HT1A receptor binding was 29% to 55% lower in 3 medullary nuclei that receive 5

  19. AIDS Education Curriculum Guide. Grades 7-10. Bulletin 1827, 1988.

    ERIC Educational Resources Information Center

    Louisiana State Dept. of Education, Baton Rouge.

    This curriculum guide on acquired immune deficiency syndrome (AIDS) was developed for students at the junior high school level. There are five major sections: (1) introduction, an overview of AIDS; (2) an overview of the history of AIDS; (3) basic immunology; (4) the effects of AIDS on the host; and (5) prevention of AIDS. The appendices include…

  20. Adolescents' Thoughts and Feelings about AIDS in Relation to Cognitive Maturity.

    ERIC Educational Resources Information Center

    Peterson, Candida C.; Murphy, Lisa

    1990-01-01

    Studied adolescents' (N=163) formal operational reasoning in relation to Acquired Immune Deficiency Syndrome (AIDS) knowledge, AIDS fear, sexual knowledge, and reactions to AIDS victims. Found that advanced reasoning predicted better AIDS knowledge and general sexual knowledge. Advanced reasoning and AIDS knowledge were also linked with heightened…

  1. AIDS: Understanding and Prevention. Student and Teacher Editions. The Merrill Wellness Series.

    ERIC Educational Resources Information Center

    Meeks, Linda; Heit, Philip

    This two-document set includes a student workbook and a teacher guide designed to present factual information about Acquired Immune Deficiency Syndrome (AIDS). Subjects covered include; transmission of AIDS, risk behaviors, detection of AIDS, AIDS infection, treatment and research, and prevention of AIDS infection. The teacher guide presents…

  2. Cat eye syndrome and growth hormone deficiency with pituitary anomalies: a case report and review of the literature.

    PubMed

    Melo, Cláudia; Gama-de-Sousa, Susana; Almeida, Filipa; Rendeiro, Paula; Tavares, Purificação; Cardoso, Helena; Carvalho, Sónia

    2013-10-15

    Cat eye syndrome is a rare congenital disease characterized by the existence of a supernumerary chromosome derived from chromosome 22, with a variable phenotype comprising anal atresia, coloboma of the iris and preauricular tags or pits. We report a girl with cat eye syndrome, presenting short stature, with growth hormone deficiency due to posterior pituitary ectopia. Short stature is a common feature of this syndrome, and the association with a structural pituitary anomaly has been described, however growth hormone deficiency and the underlying mechanisms are rarely reported. A review on short stature and growth hormone deficiency in cat eye syndrome is conducted.

  3. Deficiency neuropathy in wartime: the "paraesthetic-causalgic syndrome" described by Manuel Peraita during the Spanish Civil War.

    PubMed

    Huertas, Rafael; Del Cura, Maria Isabel

    2010-04-08

    This paper discusses the contribution of Spanish neurologist Manuel Peraita (1908-1950) to the study of deficiency neuropathy in the setting of the Spanish Civil War (1936-1939). The clinical characteristics of "paraesthetic-causalgic syndrome" or "Madrid syndrome" as described by Peraita are discussed, and the syndrome is presented in relation to other similar conditions, including Strachan's syndrome and burning feet syndrome.

  4. Avalanching mutations in biallelic mismatch repair deficiency syndrome.

    PubMed

    Waterfall, Joshua J; Meltzer, Paul S

    2015-03-01

    Tumors from pediatric patients generally contain relatively few somatic mutations. A new study reports a striking exception in individuals in whom biallelic germline deficiency for mismatch repair is compounded by somatic loss of function in DNA proofreading polymerases, resulting in 'ultra-hypermutated' malignant brain tumors.

  5. Neuroimaging evidence of deficient axon myelination in Wolfram syndrome

    PubMed Central

    Lugar, Heather M.; Koller, Jonathan M.; Rutlin, Jerrel; Marshall, Bess A.; Kanekura, Kohsuke; Urano, Fumihiko; Bischoff, Allison N.; Shimony, Joshua S.; Hershey, Tamara; Austin, P.; Beato, B.; Bihun, E.; Doty, T.; Earhart, G.; Eisenstein, S.; Hoekel, J.; Karzon, R.; Licis, A.; Manwaring, L.; Paciorkowski, A. R.; Pepino de Gruev, Y.; Permutt, A.; Pickett, K.; Ranck, S.; Reiersen, A.; Tychsen, L.; Viehoever, A.; Wasson, J.; White, N. H.

    2016-01-01

    Wolfram syndrome is a rare autosomal recessive genetic disease characterized by insulin dependent diabetes and vision, hearing and brain abnormalities which generally emerge in childhood. Mutations in the WFS1 gene predispose cells to endoplasmic reticulum stress-mediated apoptosis and may induce myelin degradation in neuronal cell models. However, in vivo evidence of this phenomenon in humans is lacking. White matter microstructure and regional volumes were measured using magnetic resonance imaging in children and young adults with Wolfram syndrome (n = 21) and healthy and diabetic controls (n = 50). Wolfram patients had lower fractional anisotropy and higher radial diffusivity in major white matter tracts and lower volume in the basilar (ventral) pons, cerebellar white matter and visual cortex. Correlations were found between key brain findings and overall neurological symptoms. This pattern of findings suggests that reduction in myelin is a primary neuropathological feature of Wolfram syndrome. Endoplasmic reticulum stress-related dysfunction in Wolfram syndrome may interact with the development of myelin or promote degeneration of myelin during the progression of the disease. These measures may provide objective indices of Wolfram syndrome pathophysiology that will be useful in unraveling the underlying mechanisms and in testing the impact of treatments on the brain. PMID:26888576

  6. Glucose Transporter Type 1 Deficiency Syndrome with Carbohydrate-Responsive Symptoms but without Epilepsy

    ERIC Educational Resources Information Center

    Koy, Anne; Assmann, Birgit; Klepper, Joerg; Mayatepek, Ertan

    2011-01-01

    Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is caused by a defect in glucose transport across the blood-brain barrier. The main symptoms are epilepsy, developmental delay, movement disorders, and deceleration of head circumference. A ketogenic diet has been shown to be effective in controlling epilepsy in GLUT1-DS. We report a female…

  7. A Milk-Free Diet Downregulates Folate Receptor Autoimmunity in Cerebral Folate Deficiency Syndrome

    ERIC Educational Resources Information Center

    Ramaekers, Vincent T.; Sequeira, Jeffrey M.; Blau, Nenad; Quadros, Edward V.

    2008-01-01

    In cerebral folate deficiency syndrome, the presence of autoantibodies against the folate receptor (FR) explains decreased folate transport to the central nervous system and the clinical response to folinic acid. Autoantibody crossreactivity with milk FR from different species prompted us to test the effect of a milk-free diet. Intervention with a…

  8. Vitamin D deficiency is prevalent in girls and women with rett syndrome

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The aim of the study was to determine the prevalence of vitamin D deficiency and identify the relation between 25-hydroxyvitamin D (25-(OH)D) levels and the consumption of dietary sources of vitamin D or exposure to anticonvulsants in girls and women with Rett syndrome (RTT). Retrospective review of...

  9. Effects of the ketogenic diet in the glucose transporter 1 deficiency syndrome.

    PubMed

    Klepper, Jörg; Diefenbach, Sonja; Kohlschütter, Alfried; Voit, Thomas

    2004-03-01

    The ketogenic diet (KD), established to treat intractable childhood epilepsy, has emerged as the principal treatment of GLUT1 deficiency syndrome (OMIM 606777). This defect of glucose transport into the brain results in hypoglycorrhachia causing epilepsy, developmental delay, and a complex motor disorder in early childhood. Ketones provided by a high-fat, low-carbohydrate diet serve as an alternative fuel to the brain. Glucose, lactate, lipids, and ketones in blood and cerebrospinal fluid were investigated in five GLUT1-deficient patients before and on the KD. Hypoglycorrhachia was detected in the non-ketotic and ketotic state. In ketosis, lactate concentrations in the cerebrospinal fluid increased moderately. The CSF/blood ratio for acetoacetate was higher compared to beta-hydroxybutyrate. Free fatty acids did not enter the brain in significant amounts. Blood concentrations of essential fatty acids determined in 18 GLUT1-deficient patients on the KD were sufficient in all age groups. The effects of the KD in GLUT1 deficiency syndrome, particularly the course of blood lipids, are discussed in an illustrative case. In this syndrome, the KD effectively restores brain energy metabolism. Ketosis does not influence impaired GLUT1-mediated glucose transport into brain: hypoglycorrhachia, the biochemical hallmark of the disease, can be identified in GLUT1-deficient patients on a KD. The effects of ketosis on the concentrations of glucose, lactate, ketones, and fatty acids in blood and cerebrospinal fluid in this entity are discussed in view of previous data on ketosis in man.

  10. Acquired immune deficiency syndrome. A perspective for the medical practitioner.

    PubMed

    Sherertz, R J

    1985-07-01

    AIDS is a new disease process with complications and management problems unlike anything ever seen before. An attempt has been made to summarize the available information about its various clinical presentations and how to manage them. Subjects covered will include associated malignancies, infections, transmissibility, prodromal states, and infection control issues.

  11. Isolated Vitamin D Deficiency Is Not Associated with Nonthyroidal Illness Syndrome, but with Thyroid Autoimmunity

    PubMed Central

    Sayki Arslan, Muyesser; Topaloglu, Oya; Ucan, Bekir; Karakose, Melia; Karbek, Basak; Tutal, Esra; Caliskan, Mustafa; Ginis, Zeynep; Cakal, Erman; Sahin, Mustafa; Ozbek, Mustafa; Delibasi, Tuncay

    2015-01-01

    Aim. This study aimed to compare thyroid functions, thyroid autoantibodies, and the existence of nonthyroidal illness syndrome (NTIS) according to vitamin D level. Materials and Methods. The study included age- and BMI-matched healthy volunteers with and without vitamin D deficiency. In addition, the nonthyroidal illness syndrome status was evaluated. Results. Anti-TPO positivity was significantly more common in those with severe and moderate vitamin D deficiency, as compared to those with a normal 25(OH)D level. Furthermore, TSH levels were significantly lower in those with severe and moderate vitamin D deficiency than in those with a normal 25(OH)D level. In addition, there was a significant weak inverse correlation between anti-TPO positivity and the 25(OH)D level and a positive correlation between the TSH level and 25(OH)D level. Only 1 thyroid function test result was compatible with NTIS among the participants with moderate vitamin D deficiency; therefore the difference was not significant. Conclusions. The prevalence of thyroid autoantibody positivity was higher in those with severe and moderate vitamin D deficiency than in those with a normal 25(OH)D level. Additional large-scale studies must be conducted to determine if vitamin D deficiency plays a causal role in the pathogenesis of Hashimoto's thyroiditis and NTIS. PMID:25654127

  12. HIV/AIDS Education for Students with Special Needs.

    ERIC Educational Resources Information Center

    Colson, Steven E.; Carlson, Judith K.

    1993-01-01

    This article discusses human immune deficiency disease, the role of education as a prevention tool, a rationale for the inclusion of students with special needs in Acquired Immune Deficiency Syndrome (AIDS) education, a scope and sequence of skills related to AIDS, suggestions for implementing objectives across curricular areas, and multimedia…

  13. The immune response in SAPHO syndrome: deficiency, hyper- responsiveness, or both?

    PubMed

    Hayem, Gilles; Hurtado-Nedelec, Margarita; Chollet-Martin, Sylvie

    2013-01-01

    The pathophysiology of SAPHO syndrome still remains to be determined. However, like in other forms of spondylarthritides, this rare condition seems to result from the combination of genetic, environmental and immunological factors. Surely, SAPHO syndrome cannot be simply regarded as the adult form of the 'caricatural' DIRA (deficiency in interleukin-1 receptor antagonist) syndrome, although this purely genetic disease also causes multiple osteomyelitis and pustular rashes. An initial bacterial trigger, mainly represented by the cutaneous saprophyte Propionibacterium acnes, could take advantage of a selective deficiency of the innate immunity, implicating neutrophils. This could elicit thereafter a 'hyperimmune' reaction, as in other chronic inflammatory conditions like reactive arthritis, Crohn's disease or hidradenitis suppurativa. The reported efficacy of either longterm antibiotic regimens (especially with azithromycin) or immunomodulatory biologic agents targetting TNF-α or IL-1 supports the concept of a post- or para-infectious hyperresponsiveness disorder, with a convincing rationale for 'hybrid' therapies.

  14. [Strategies to promote testosterone deficiency syndrome: a paradigm of disease mongering].

    PubMed

    Gavilán, Enrique; Jiménez de Gracia, Laura; Gérvas, Juan

    2014-01-01

    The so-called «testosterone deficiency syndrome» is a blend of nonspecific symptoms typical of the physiological process of aging. This syndrome has been the subject of intense promotional activity that has presented the phenomenon as highly prevalent and with a major public health impact. This strategy has been accompanied by the emergence of new and easy to administer testosterone devices into the pharmaceutical market and has generated significant sales for drug companies. The commercial promotion of testosterone deficiency syndrome and its remedies has exploited cultural stereotypes of aging and sexuality through awareness campaigns promoted by the laboratories involved and has been disseminated by media with the participation of numerous experts and with the support of scientific associations, representing a paradigmatic case of disease mongering. This example might be of use in the response to disease mongering activities from the clinical and public health fields.

  15. KANK deficiency leads to podocyte dysfunction and nephrotic syndrome

    PubMed Central

    Gee, Heon Yung; Zhang, Fujian; Ashraf, Shazia; Kohl, Stefan; Sadowski, Carolin E.; Vega-Warner, Virginia; Zhou, Weibin; Lovric, Svjetlana; Fang, Humphrey; Nettleton, Margaret; Zhu, Jun-yi; Hoefele, Julia; Weber, Lutz T.; Podracka, Ludmila; Boor, Andrej; Fehrenbach, Henry; Innis, Jeffrey W.; Washburn, Joseph; Levy, Shawn; Lifton, Richard P.; Otto, Edgar A.; Han, Zhe; Hildebrandt, Friedhelm

    2015-01-01

    Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of progressive renal function decline and affects millions of people. In a recent study, 30% of SRNS cases evaluated were the result of monogenic mutations in 1 of 27 different genes. Here, using homozygosity mapping and whole-exome sequencing, we identified recessive mutations in kidney ankyrin repeat-containing protein 1 (KANK1), KANK2, and KANK4 in individuals with nephrotic syndrome. In an independent functional genetic screen of Drosophila cardiac nephrocytes, which are equivalents of mammalian podocytes, we determined that the Drosophila KANK homolog (dKank) is essential for nephrocyte function. RNAi-mediated knockdown of dKank in nephrocytes disrupted slit diaphragm filtration structures and lacuna channel structures. In rats, KANK1, KANK2, and KANK4 all localized to podocytes in glomeruli, and KANK1 partially colocalized with synaptopodin. Knockdown of kank2 in zebrafish recapitulated a nephrotic syndrome phenotype, resulting in proteinuria and podocyte foot process effacement. In rat glomeruli and cultured human podocytes, KANK2 interacted with ARHGDIA, a known regulator of RHO GTPases in podocytes that is dysfunctional in some types of nephrotic syndrome. Knockdown of KANK2 in cultured podocytes increased active GTP-bound RHOA and decreased migration. Together, these data suggest that KANK family genes play evolutionarily conserved roles in podocyte function, likely through regulating RHO GTPase signaling. PMID:25961457

  16. Construction of a traditional Chinese medicine syndrome-specific outcome measure: the Kidney Deficiency Syndrome questionnaire (KDSQ)

    PubMed Central

    2012-01-01

    Background Development of Traditional Chinese Medicine (TCM) syndrome-specific outcome measures is needed for the evaluation of TCM syndrome-specific therapies. We constructed a Kidney Deficiency Syndrome Questionnaire (KDSQ) for the evaluation of the common TCM syndromes Kidney-Yin Deficiency Syndrome (KDS-Yin) and Kidney-Yang Deficiency Syndrome (KDS-Yang) in middle-aged women with menopausal symptoms. Methods KDS-Yin and KDS-Yang were traditionally defined by expert opinion were validated by exploratory factor analysis (EFA) and structural equation modeling (SEM). Content validity was tested by EFA on a sample of 236 women from a seminar and SEM on another sample of 321 women from a postal survey. Other psychometric properties were tested on 292 women from the seminar at baseline and two systematically selected sub-samples: 54 who reported no changes in discomforts 11–12 days after the baseline and 31 who reported changes in discomforts 67–74 days after the baseline. All participants completed the KDSQ, the Greene Climacteric Scale and the standard 12-item Short Form Health Survey. Results The EFA and SEM established the measurement models of KDS-Yin and KDS-Yang supporting content validity of the KDSQ. Internal consistency was good (Cronbach’s Alpha >0.70). Construct validity was supported by theoretically-derived levels of correlation with the established external measures. Test–retest reliability was strong (ICCagreement: KDS-Yin, 0.94; KDS-Yang, 0.93). The KDSQ was responsive to changes over time as tested by effect size and longitudinal validity. Conclusions The KDSQ was a valid and reliable measure for KDS-Yin and KDS-Yang in Hong Kong Chinese middle-aged women with menopausal symptoms. PMID:22672362

  17. AIDS: The Second Decade.

    ERIC Educational Resources Information Center

    Miller, Heather G., Ed.; And Others

    This report reviews the course of the Acquired Immune Deficiency Syndrome (AIDS) epidemic and its current status, examining changing patterns of sexual behavior and intravenous drug use, the distribution of cases of human immunodeficiency virus (HIV) infection, and the results of intervention efforts under way. It also discusses prevention…

  18. Patterns of gallium-67 scintigraphy in patients with acquired immunodeficiency syndrome and the AIDS related complex

    SciTech Connect

    Bitran, J.; Bekerman, C.; Weinstein, R.; Bennett, C.; Ryo, U.; Pinsky, S.

    1987-07-01

    Thirty-two patients with AIDS related complex (ARC) or acquired immunodeficiency syndrome (AIDS) underwent /sup 67/Ga scans as part of their evaluation. Three patterns of /sup 67/Ga biodistribution were found: lymph node uptake alone; diffuse pulmonary uptake; normal scan. Gallium-67 scans were useful in identifying clinically occult Pneumocystis carinii pneumonia in seven of 15 patients with ARC who were asymptomatic and had normal chest radiographs. Gallium scans are a useful ancillary procedure in the evaluation of patients with ARC or AIDS.

  19. Attitudes of Turkish midwives and nurses working at hospitals towards people living with human immunodeficiency virus/acquired immune deficiency syndrome.

    PubMed

    Akgun Kostak, Melahat; Unsar, Serap; Kurt, Seda; Erol, Ozgul

    2012-10-01

    Health professionals caring for people living with human immunodeficiency virus (HIV)/acquired immune deficiency syndrome (AIDS) show poor or negative attitudes because of fear of contagion. Therefore, it is important to know the attitudes of midwives' and nurses' towards people living with HIV/AIDS. The aim of this descriptive and cross-sectional study is to assess the attitudes of Turkish midwives and nurses working at hospitals to people living with HIV/AIDS and to identify factors that affect these attitudes. A group of 46 midwives and 192 nurses working in hospitals were included in the study. Data were collected through AIDS Attitude Scale. Age, professional experience, number of children and marital status influenced the attitudes of the participants towards people living with HIV/AIDS. We concluded that higher level of education appear to positively influence the attitudes of the participants. Education programmes including evidence-based nursing implications might be planned to improve positive attitudes and to prevent stigmatization of people living with HIV/AIDS.

  20. Fine needle aspiration biopsy of cystic benign lymphoepithelial lesion of the parotid gland in patients at risk for the acquired immune deficiency syndrome.

    PubMed

    Finfer, M D; Gallo, L; Perchick, A; Schinella, R A; Burstein, D E

    1990-01-01

    Cystic benign lymphoepithelial lesion (BLL), a previously rare lesion of the parotid gland consisting of marked lymphoid hyperplasia with accompanying squamous-lined cysts, has recently been described in patients with the acquired immune deficiency syndrome (AIDS) or AIDS risk factors. Thirteen fine needle aspiration (FNA) samples of parotid gland masses from patients with AIDS (one case), AIDS risk factors (five cases) or denial of AIDS risk factors (two cases) and a histopathologic diagnosis of BLL were examined. The FNA features that correlated best with the histopathologic findings were (1) a heterogeneous lymphoid population, (2) scattered single and/or clustered foamy macrophages and (3) superficial and/or anucleated squamous cells. Most aspirates showed some combination of these three components. The differential diagnostic considerations, the clinical and radiologic correlations and the relationship of this lesion to HIV infection are discussed. Patients with parotid masses whose aspirates consist of some combination of squamous cells, lymphocytes and foamy macrophages should be questioned for possible AIDS risk factors.

  1. Hypoimmunoglobulinemia and protein C deficiency in a girl with Jacobsen syndrome: a case report.

    PubMed

    Sinawat, Suthasinee; Kitkhuandee, Amnat; Auvichayapat, Narong; Auvichayapat, Paradee; Yospaiboon, Yosanan; Sinawat, Supat

    2013-07-01

    Jacobsen syndrome is a rare contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. The typical clinical manifestations include physical growth retardation, mental retardation,facial dysmorphisms, congenital heart disease, thrombocytopenia, or pancytopenia. A Thai-Australian girl was born with multiple abnormalities. Typical features and her karyotype, 46, XX, del(ll) (q23-qter), confirmed Jacobson syndrome. She had many uncommon findings including upslanting palpebral fissures, tortuousity of retinal vessels and hypogammaglobulinemia. In addition, this case also presented with protein C deficiency, which has not been reported previously in Jacobsen syndrome. The patient was treated with phototherapy, intravenous antibiotic injection, and platelet transfusion in neonatal period. Cranioplasty was performed for prevention of the increased intracranial pressure at three months of age. Surgical correction for strabismus was in the treatment plan.

  2. Glucose transporter type 1 deficiency syndrome effectively treated with modified Atkins diet.

    PubMed

    Haberlandt, Edda; Karall, Daniela; Jud, Veronika; Baumgartner, Sara Sigl; Zotter, Sibylle; Rostasy, Kevin; Baumann, Matthias; Scholl-Buergi, Sabine

    2014-04-01

    This is a report on the successful treatment of a 6-year-old girl with genetically proven glucose transporter type 1 deficiency syndrome (GLUT1-DS) with modified Atkins diet (MAD). GLUT1-DS is an inborn disorder of glucose transport across the blood-brain barrier, which leads to energy deficiency of the brain with a broad spectrum of neurological symptoms including therapy-resistant epilepsy. Usually classical ketogenic diet (KD) is the standard treatment for patients with GLUT1-DS. Treatment with MAD, a variant of KD, for an observation period of 17 months resulted in improvement of seizures, alertness, cognitive abilities, and electroencephalography in this patient.

  3. A neurobehavioral syndrome after failure to thrive on chloride-deficient formula.

    PubMed

    Kaleita, T A; Kinsbourne, M; Menkes, J H

    1991-07-01

    Eleven of 13 children, who demonstrated a failure-to-thrive pattern in infancy attributable to chloride-deficient Neo-Mull-Soy formula, had distinctive cognitive impairments four to nine years later. These included: a language disorder primarily involving articulation, word finding and naming; visual-motor and fine motor difficulties; and attention deficit disorder, often featuring repetitive behaviours, withdrawal and perseveration ('overfocus'). In contrast, global intellectual abilities were within the normal range in all 11 children. This residual neurobehavioral syndrome is too rare in the developmentally disabled population to reflect a chance association. It has not been associated either with protein-calorie malnutrition or chloride-deficiency diseases.

  4. Osmotic demyelination syndrome as a consequence of treating hyperammonemia in a patient with ornithine transcarbamylase deficiency.

    PubMed

    Cardenas, Javier F; Bodensteiner, John B

    2009-07-01

    A 7-year-old female patient with a new diagnosis of ornithine transcarbamylase deficiency was treated for hyperammonemia with a standard protocol. Several days later, she developed ataxia, dysmetria, and dysarthria. Magnetic resonance imaging of the brain demonstrated pontine and extrapontine white matter changes consistent with osmotic demyelination. Classically described as a consequence of hyponatremia treatment, osmotic demyelination syndrome has rarely been associated with other entities. This case suggests a potentially serious complication of the standard therapy for hyperammonemia in patients with ornithine transcarbamylase deficiency.

  5. Hearing rehabilitation in Treacher Collins Syndrome with bone anchored hearing aid

    PubMed Central

    Polanski, José Fernando; Plawiak, Anna Clara; Ribas, Angela

    2015-01-01

    Objective: To describe a case of hearing rehabilitation with bone anchored hearing aid in a patient with Treacher Collins syndrome. Case description: 3 years old patient, male, with Treacher Collins syndrome and severe complications due to the syndrome, mostly related to the upper airway and hearing. He had bilateral atresia of external auditory canals, and malformation of the pinna. The initial hearing rehabilitation was with bone vibration arch, but there was poor acceptance due the discomfort caused by skull compression. It was prescribed a model of bone-anchored hearing aid, in soft band format. The results were evaluated through behavioral hearing tests and questionnaires Meaningful Use of Speech Scale (MUSS) and Infant-Toddler Meaningful Auditory Integration Scale (IT-MAIS). Comments: The patient had a higher acceptance of the bone-anchored hearing aid compared to the traditional bone vibration arch. Audiological tests and the speech and auditory skills assessments also showed better communication and hearing outcomes. The bone-anchored hearing aid is a good option in hearing rehabilitation in this syndrome. PMID:26298651

  6. Legal Rights and Duties in the AIDS Epidemic.

    ERIC Educational Resources Information Center

    Dickens, Bernard M.

    1988-01-01

    Provides an overview of some major areas of legal concern in which the acquired immune deficiency syndrome (AIDS) epidemic is having an impact. Reviews rights of confidentiality and nondiscrimination regarding access to health care, employment, housing, education, and insurance. (TW)

  7. AIDS and Herpes Carry Weighty Policy Implications for Your Board.

    ERIC Educational Resources Information Center

    McCormick, Kathleen

    1985-01-01

    Few schools have policies to deal specifically with herpes and Acquired Immune Deficiency Syndrome (AIDS). Discusses some schools and states that have developed such policies and includes a source list for more information. (MD)

  8. Systemic sarcocystosis in a patient with acquired immune deficiency syndrome.

    PubMed

    Velásquez, Jorge N; Di Risio, Cecilia; Etchart, Cristina B; Chertcoff, Agustín V; Mendez, Nora; Cabrera, Marta G; Labbé, Jorge H; Carnevale, Silvana

    2008-08-01

    Sarcocystis sp is a tissue coccidian parasite in humans that causes intestinal and muscular sarcocystosis in immunocompetent patients. Intestinal sarcocystosis can be diagnosed at the tissue level in the lamina propria of the small bowel and by fecal examination. Muscular sarcocystosis is diagnosed by microscopic examination of muscle biopsies. This report describes a case of systemic sarcocystosis in an HIV-infected patient. We studied a 31-year-old patient with AIDS, chronic diarrhea, cholestatic hepatitis, and musculoskeletal pain by stool analysis and endoscopy with duodenal and liver biopsy specimens that were processed for routine histology. The microgamete and macrogamete stages of Sarcocystis sp were present in the lamina propria, with sporulated oocysts in feces. Schizont stages of the protozoa were found in liver biopsy. In summary, sarcocystosis should be considered another opportunistic infection in HIV-infected patients.

  9. AIDS Prevention Education Project, Grades 4-8.

    ERIC Educational Resources Information Center

    Bissell, Barbara K.; And Others

    A curriculum guide for an Acquired Immune Deficiency Syndrome (AIDS) prevention education program for grades 4-8 is presented in this document. The purpose of these materials is to serve as a resource to encourage and facilitate AIDS education in order to prevent the disease. It is recommended that this AIDS program be taught as part of the human…

  10. The Creative Use of Psychotherapy with Terminally Ill AIDS Patients.

    ERIC Educational Resources Information Center

    Fraenkel, William A.

    One clinical psychologist who worked with terminally ill, end-stage Acquired Immune Deficiency Syndrome (AIDS) patients in a hospice type setting experienced more than 150 deaths over an 18-month time period. Many of the patients denied that they had AIDS; some distinguished between having AIDS and testing positive for Human Immunodeficiency Virus…

  11. Therapeutic Recreation Professionals' Attitudes toward and Knowledge of AIDS.

    ERIC Educational Resources Information Center

    Glenn, Cherie; Dattilo, John

    1993-01-01

    Survey of therapeutic recreation professionals' attitudes toward persons with Acquired Immune Deficiency Syndrome (AIDS) and knowledge of AIDS found no significant relationship between knowledge and attitudes but a positive relationship between attendance at workshops and knowledge. Professionals who knowingly cared for persons with AIDS expressed…

  12. The Science of AIDS. Readings from Scientific American Magazine.

    ERIC Educational Resources Information Center

    Scientific American, Inc., New York, NY.

    This collection of scientific articles on the subject of acquired immune deficiency syndrome (AIDS) covers many facets of the physical and social aspects of the disease. Technical articles deal with the molecular and cellular biology of AIDS and the Human Immunodeficiency Virus (HIV). The national and international epidemiology of AIDS and HIV are…

  13. AIDS: What Early Childhood Educators Need To Know.

    ERIC Educational Resources Information Center

    Spar, Ruth

    Noting that Acquired Immune Deficiency Syndrome (AIDS) is expected to become the fifth leading cause of death for children ages 1 to 4, this paper provides relevant information on AIDS and the Human Immunodeficiency Virus (HIV) to help educators understand that they can work with children and adults who are HIV positive or who have AIDS. The…

  14. Latinas and HIV/AIDS: Implications for the 90s.

    ERIC Educational Resources Information Center

    Maldonado, Miguelina

    1991-01-01

    Among Latinas, the number of cases of Acquired Immune Deficiency Syndrome (AIDS) is increasing relentlessly. From August 1989 to August 1990, there was a 53 percent increase nationally in cumulative AIDS cases among Latinas. In New York City, AIDS is the leading cause of death among Latinas aged 25-34. The conditions and circumstances that place…

  15. An Evaluation of an Undergraduate Course on AIDS.

    ERIC Educational Resources Information Center

    Abramson, Paul R.; And Others

    1989-01-01

    The impact of an undergraduate course on Acquired Immune Deficiency Syndrome (AIDS) was studied. Results of a post-test, completed by 352 students (including 96 controls), suggested that the course had a beneficial impact on knowledge, attitudes, and behavior relevant to the transmission of AIDS. Implications for AIDS education are discussed. (SLD)

  16. Home Economists in the Workplace: Formulating HIV/AIDS Policy.

    ERIC Educational Resources Information Center

    Stanberry, Anne M.

    1991-01-01

    Reviews facts about human immunodeficiency virus/acquired immune deficiency syndrome (HIV/AIDS), HIV transmission, and prevention of HIV/AIDS; discusses risks for contracting HIV; reviews relevant legislation regarding the rights of employees, employers, and consumers; describes HIV/AIDS workplace policies and procedures; and presents implications…

  17. Testosterone deficiency syndrome: benefits, risks, and realities associated with testosterone replacement therapy.

    PubMed

    Hassan, Jacob; Barkin, Jack

    2016-02-01

    Testosterone deficiency syndrome, which has sometimes been termed age-related or late-onset hypogonadism, is a syndrome characterized by both clinical manifestations as well as a biochemical deficiency of testosterone. This condition is associated with considerable morbidity and mortality, accounting for billions of dollars in health care costs. There is some evidence that suggests that restoring testosterone levels in these individuals may help to manage or delay progression of the associated morbidities. Furthermore, despite controversies in the literature and media, testosterone replacement has proven to be quite safe in most men with minimal if any adverse effects when dosing to achieve the eugonadal range. It is nevertheless very important for clinicians to be aware of the possible risks and contraindications of treatment to ensure proper patient selection and appropriate monitoring.

  18. Yang/Qi Invigoration: An Herbal Therapy for Chronic Fatigue Syndrome with Yang Deficiency?

    PubMed Central

    Wong, Hoi Shan; Chen, Jihang; Ko, Kam Ming

    2015-01-01

    According to traditional Chinese medicine (TCM) theory, Yang and Qi are driving forces of biological activities in the human body. Based on the crucial role of the mitochondrion in energy metabolism, we propose an extended view of Yang and Qi in the context of mitochondrion-driven cellular and body function. It is of interest that the clinical manifestations of Yang/Qi deficiencies in TCM resemble those of chronic fatigue syndrome in Western medicine, which is pathologically associated with mitochondrial dysfunction. By virtue of their ability to enhance mitochondrial function and its regulation, Yang- and Qi-invigorating tonic herbs, such as Cistanches Herba and Schisandrae Fructus, may therefore prove to be beneficial in the treatment of chronic fatigue syndrome with Yang deficiency. PMID:25763095

  19. Hypocretin Deficiency Associated with Narcolepsy Type 1 and Central Hypoventilation Syndrome in Neurosarcoidosis of the Hypothalamus

    PubMed Central

    Mayo, Mary Catherine; Deng, Jane C.; Albores, Jeffrey; Zeidler, Michelle; Harper, Ronald M.; Avidan, Alon Y.

    2015-01-01

    We report a case of a 53-year-old man presenting with depressed alertness and severe excessive sleepiness in the setting of neurosarcoidosis. Neuroimaging demonstrated hypothalamic destruction due to sarcoidosis with a CSF hypocretin level of 0 pg/mL. The patient also experienced respiratory depression that presumably resulted from hypocretin-mediated hypothalamic dysfunction as a result of extensive diencephalic injury. This is a novel case, demonstrating both hypocretin deficiency syndrome, as well as respiratory dysfunction from destruction of hypocretin neurons and extensive destruction of key diencephalic structures secondary to the underlying neurosarcoidosis. Citation: May MC, Deng JC, Albores J, Zeidler M, Harper RM, Avidan AY. Hypocretin deficiency associated with narcolepsy type 1 and central hypoventilation syndrome in neurosarcoidosis of the hypothalamus. J Clin Sleep Med 2015;11(9):1063–1065. PMID:25979096

  20. [GLUT-1 deficiency syndrome or De Vivo disease: a case report].

    PubMed

    Ticus, I; Cano, A; Villeneuve, N; Milh, M; Mancini, J; Chabrol, B

    2008-08-01

    GLUT-1 protein is the principal glucose transporter across the blood-brain barrier. GLUT-1 deficiency results in a syndrome of infantile seizures refractory to anticonvulsive drugs, developmental delay, acquired microcephaly and neurologic manifestations including spasticity, hypotonia, and ataxia. A low cerebrospinal fluid glucose concentration in the absence of hypoglycaemia is pathognomonic of glucose transporter deficiency syndrome. Ketogenic diet is an effective treatment of epileptic manifestations but it has less effect on the cognitive symptoms. We report on a child who presented with paroxistical events often occurring prior to meals, developmental delay, microcephaly and spasticity. CSF and serum glucose levels measured simultaneously showed a CSF/serum glucose ratio of 0.39. Molecular analysis identified a heterozygous novel mutation.

  1. Severe respiratory syncytial virus (RSV) infection in infants with neuromuscular diseases and immune deficiency syndromes.

    PubMed

    Resch, Bernhard; Manzoni, Paolo; Lanari, Marcello

    2009-09-01

    Respiratory syncytial virus (RSV) is an important cause of lower respiratory tract infection (LRTI) in infants and children. There is growing evidence of severe RSV disease in infants with neuromuscular diseases and immune deficiency syndromes. Factors predisposing to a more severe course of RSV disease in neuromuscular diseases include the impaired ability to clear secretions from the airways due to ineffective cough, respiratory muscle weakness, high prevalence of gastro-oesophageal reflux and swallowing dysfunction which leads to aspiration. Similarly, pulmonary disease is a common presenting feature and complication of T-cell immunodeficiency. Infants with severe congenital and acquired immune deficiency syndromes may demonstrate prolonged viral shedding in RSV LRTI and are reported to have increased morbidity and mortality associated with RSV infection. Although not indicated in most guideline statements, palivizumab prophylaxis for these uncommon underlying conditions is under consideration by clinicians. Prospective studies are needed to determine the burden of RSV disease in these children.

  2. Creatine Deficiency Syndrome could be Missed Easily: A Case Report of Guanidinoacetate Methyltransferase Deficiency Presented with Neurodevelopmental Delay, Seizures, and Behavioral Changes, but Normal Structural MRI.

    PubMed

    Pacheva, Iliyana; Ivanov, Ivan; Penkov, Marin; Kancheva, Daliya; Jordanova, Albena; Ivanova, Mariya

    2016-09-01

    A case with GAMT deficiency (homozygous c.64dupG mutation) presented with neurodevelopmental delay, rare seizures, behavioral disturbances, and mild hypotonia, posing diagnostic challenges. Metabolic investigations showed low creatinine in plasma and urine (guanidinoacetate couldn't be investigated) and slightly elevated lactate. MRI was normal. Correct diagnosis was possible only after MR spectroscopy was performed at age 5½ years. A homozygous c.64dupG mutation of the GAMT gene was identified in the proband. In conclusion, every case with neurodevelopmental delay or arrest, especially when accompanied by seizures, behavioral impairment, muscle hypotonia or extrapyramidal symptoms should undergo MRI with MR spectroscopy. Normal structural MRI doesn't exclude a creatine deficiency syndrome. Biochemical investigations of guanidinoacetate, creatine, and creatinine in body fluid should be done to diagnose cerebral creatine deficiency syndromes and to specify the deficient enzyme. Thus, a treatable disease will not be missed.

  3. Death and AIDS: A Review of the Medico-Legal Literature.

    ERIC Educational Resources Information Center

    Huber, Jeffrey T.

    1993-01-01

    Notes that diagnosis of Acquired Immune Deficiency Syndrome (AIDS) continues to denote death sentence. Contends that AIDS is unique terminal illness in that no other single disease in history of American legal system has generated more litigation than AIDS. Examines medico-legal issues associated with AIDS-related death: estate planning,…

  4. Immune reconstitution syndromes in human immuno-deficiency virus infection following effective antiretroviral therapy.

    PubMed

    Behrens, G M; Meyer, D; Stoll, M; Schmidt, R E

    2000-08-01

    Effective antiretroviral therapy leads to rapid decrease in plasma HIV-1 RNA, frequently followed by an increase in CD4 T-helper cell counts. The improvement of immune function during highly active antiretroviral therapy has important impact on natural history of AIDS-related opportunistic disorders. Here we describe cases of unusual clinical inflammatory syndromes in CMV retinitis, hepatitis C, and atypical mycobacteriosis in HIV-1 infected patients associated with the initiation of antiretroviral therapy. Pathogenetic implications and therapeutic management of these new immunopathologic syndromes are discussed.

  5. Mechanism of choline deficiency and membrane alteration in postural orthostatic tachycardia syndrome primary skin fibroblasts

    PubMed Central

    Schenkel, Laila C.; Singh, Ratnesh K.; Michel, Vera; Zeisel, Steven H.; da Costa, Kerry-Ann; Johnson, Amy R.; Mudd, Harvey S.; Bakovic, Marica

    2015-01-01

    Fibroblasts from a patient with postural orthostatic tachycardia syndrome (POTS), who presented with low plasma choline and betaine, were studied to determine the metabolic characteristics of the choline deficiency. Choline is required for the synthesis of the phospholipid phosphatidylcholine (PC) and for betaine, an important osmoregulator. Here, choline transport, lipid homeostasis, and mitochondria function were analyzed in skin fibroblasts from POTS and compared with control cells. The choline transporter-like protein 1/solute carrier 44A1 (CTL1/SLC44A1) and mRNA expression were 2–3 times lower in POTS fibroblasts, and choline uptake was reduced 60% (P < 0.05). Disturbances of membrane homeostasis were observed by reduced ratios between PC:phosphatidylethanolamine and sphingomyelin:cholesterol, as well as by modified phospholipid fatty acid composition. Choline deficiency also impaired mitochondria function, which was observed by a reduction in oxygen consumption, mitochondrial potential, and glycolytic activity. When POTS cells were treated with choline, transporter was up-regulated, and uptake of choline increased, offering an option for patient treatment. The characteristics of the POTS fibroblasts described here represent a first model of choline and CTL1/SLC44A1 deficiency, in which choline transport, membrane homeostasis, and mitochondrial function are impaired.—Schenkel, L. C., Singh, R. K., Michel, V., Zeisel, S. H., da Costa, K.-A., Johnson, A. R., Mudd, H. S., Bakovic, M. Mechanism of choline deficiency and membrane alteration in postural orthostatic tachycardia syndrome primary skin fibroblasts. PMID:25466896

  6. Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype.

    PubMed

    Bowron, Ann; Honeychurch, Julie; Williams, Maggie; Tsai-Goodman, Beverley; Clayton, Nicol; Jones, Lucy; Shortland, Graham J; Qureshi, Shakeel A; Heales, Simon J R; Steward, Colin G

    2015-03-01

    Barth syndrome (BTHS) is an X-linked disorder characterised by cardiac and skeletal myopathy, growth delay, neutropenia and 3-methylglutaconic aciduria (3-MGCA). Patients have TAZ gene mutations which affect metabolism of cardiolipin, resulting in low tetralinoleoyl cardiolipin (CL(4)), an increase in its precursor, monolysocardiolipin (MLCL), and an increased MLCL/CL(4) ratio. During development of a diagnostic service for BTHS, leukocyte CL(4) was measured in 156 controls and 34 patients with genetically confirmed BTHS. A sub-group of seven subjects from three unrelated families was identified with leukocyte CL(4) concentrations within the control range. This had led to initial false negative disease detection in two of these patients. MLCL/CL(4) in this subgroup was lower than in other BTHS patients but higher than controls, with no overlap between the groups. TAZ gene mutations in these families are all predicted to be pathological. This report describes the clinical histories of these seven individuals with an atypical phenotype: some features were typical of BTHS (five have had cardiomyopathy, one family has a history of male infant deaths, three have growth delay and five have 3-MGCA) but none has persistent neutropenia, five have excellent exercise tolerance and two adults are asymptomatic. This report also emphasises the importance of measurement of MLCL/CL(4) ratio rather than CL(4) alone in the biochemical diagnosis of the BTHS.

  7. Conjunctival mucin deficiency in complete androgen insensitivity syndrome (CAIS).

    PubMed

    Mantelli, Flavio; Moretti, Costanzo; Micera, Alessandra; Bonini, Stefano

    2007-06-01

    Sex steroid hormones are essential for a healthy ocular surface and the androgen receptor impairment found in patients with complete androgen insensitivity syndrome (CAIS) has been described to cause meibomian gland dysfunction and functional dry eye for lipid tear film layer instability. However, it has not been reported if the mucous layer is also affected. A 37-year-old CAIS patient with persistent symptoms of dry eye underwent ophthalmological examination and was evaluated for qualitative and quantitative tear function tests and conjunctival cytology. Samples obtained from the conjunctival epithelium were stained for histology and immunohistochemistry and compared with three age-matched female controls. Western blot and relative real-time RT-PCR for MUC1 and MUC5AC were also performed on these samples. Immunohistochemistry, Western blot and relative real-time RT-PCR showed a decrease in the expression of MUC1 and MUC5AC in CAIS. Changes in the tear film mucous layer were accompanied by a reduction in the tear film break up time test. This is the first report describing mucous layer alteration associated with androgen receptor impairment. Decreased mucin levels contribute in explaining the tear film instability in CAIS and should be considered an additional cause of dry eye in sex steroid hormone pathology.

  8. College Students' Perception of AIDS Victims.

    ERIC Educational Resources Information Center

    Bailey, Roger C.; And Others

    1989-01-01

    Evaluated college students' (N=60) perceptions of victims of Acquired Immune Deficiency Syndrome (AIDS) based on how the victim contracted the disease. Found in nondeterioration condition victims contracting AIDS via sexual encounters or illicit drug injection were perceived as less trustworthy, less moral, and less desirable as a prospective…

  9. Behavioral Risk Factors for AIDS among Adolescents.

    ERIC Educational Resources Information Center

    Millstein, Susan G.

    This document examines the incidence of Acquired Immune Deficiency Syndrome (AIDS) among adolescents in the United States and identifies several risk factors for AIDS among this population. It classifies adolescents' risk for contracting human immunodeficiency virus (HIV) infection by the degree to which adolescents engage in behaviors that are…

  10. Public Health Nursing for People with AIDS.

    ERIC Educational Resources Information Center

    Dickinson, Dena; And Others

    Individuals with Acquired Immune Deficiency Syndrome (AIDS) or AIDS-related conditions (ARC) need continual care and support, at a level which can severely tax the health resources of a community. Public health nursing should have a central role in the effective and efficient response to this devastating problem. Since the early stages of the AIDS…

  11. Effective AIDS Education: A Policymakers Guide.

    ERIC Educational Resources Information Center

    Fraser, Katherine; Mitchell, Patricia

    This guide provides information to support state and local efforts to fight the Acquired Immune Deficiency Syndrome (AIDS) epidemic. The guide is divided into three sections: (1) the need; (2) the challenge: providing effective AIDS prevention education; and (3) developing a comprehensive state leadership role. An extensive bibliography of 66…

  12. Illness Cognition and Responses to AIDS.

    ERIC Educational Resources Information Center

    Bishop, George D.

    Along with the current epidemic of Acquired Immune Deficiency Syndrome (AIDS) has come what some have called an epidemic of fear. Two studies were conducted to explore lay responses to AIDS from the perspective of recent research on how lay people process illness information. The research examines the cognitive organization of disease information…

  13. Judicial Attitude toward Legal Rights and AIDS.

    ERIC Educational Resources Information Center

    Stavis, Paul F.

    1989-01-01

    Caselaw that functions as law until statutes are enacted has been characteristic of legal issues surrounding the HIV (Human Immunodeficiency Virus) and AIDS (Acquired Immune Deficiency Syndrome) diseases. In most cases such caselaw has protected the civil rights of persons with HIV/AIDS under established law as well as the traditions of Western…

  14. AIDS Instructional Guide: Grades K-12. Health.

    ERIC Educational Resources Information Center

    New York State Education Dept., Albany. Bureau of Curriculum Development.

    This guide provides a framework for Acquired Immune Deficiency Syndrome (AIDS) instruction within a comprehensive health education program stressing positive health behaviors. The guide is structured to: (1) provide information to school personnel on how to implement a home/school/community approach to AIDS instruction; (2) provide suggested…

  15. Workers' Reactions to AIDS and Other Illnesses.

    ERIC Educational Resources Information Center

    Sheehan, Eugene P.; And Others

    Previous research on the public's response to Acquired Immune Deficiency Syndrome (AIDS) has been concerned with attitudes and knowledge in relation to the disease itself. This study investigated people's willingness to interact with individuals with AIDS in the workplace. Participants (N=358) were college students with an average age of 25.…

  16. Unified-planning, graded-administration, and centralized-controlling: a management modality for treating acquired immune deficiency syndrome with Chinese medicine in Henan Province of China.

    PubMed

    Xu, Li-Ran; Guo, Hui-jun; Liu, Zhi-bin; Li, Qiang; Yang, Ji-ping; He, Ying

    2015-04-01

    Henan Province in China has a major epidemic of human immunodeficiency virus/acquired immune deficiency syndrome (HIV/AIDS). Chinese medicine (CM) has been used throughout the last decade, and a management modality was developed, which can be described by unified-planning, graded-administration, and centralized-controlling (UGC). The UGC modality has one primary concept (patient-centered medicine from CM theory), four basic foundations (classifying administrative region, characteristics of CM on disease treatment, health resource conditions, and distribution of patients living with HIV), six important relationships (the "three uniformities and three combinations," and the six relationships therein guide the treatment of AIDS with CM), and four key sections (management, operation, records, and evaluation). In this article, the authors introduce the UGC modality, which could be beneficial to developing countries or resource-limited areas for the management of chronic infectious disease.

  17. Analysis of cytomegalovirus and Epstein-Barr virus antibody responses in treated hemophiliacs. Implications for the study of acquired immune deficiency syndrome.

    PubMed

    Cheeseman, S H; Sullivan, J L; Brettler, D B; Levine, P H

    1984-07-06

    One hundred hemophiliacs were studied for serological evidence of infection with cytomegalovirus (CMV), Epstein-Barr virus (EBV), and hepatitis B virus. Ninety-eight percent had markers of hepatitis B infection, while 69% had antibody to EBV and only 42% had antibody to CMV, suggesting that factor VIII preparations do not transmit EBV and CMV efficiently. Seventy-one percent of those seropositive to EBV had an antibody pattern suggestive of active infection, as compared with 23% of healthy young adult blood donors. These findings make the patients with hemophilia an unusually favorable population for the study of the role of persistent viral infection in the immunodeficiency now found to be widespread in groups at high risk for acquired immune deficiency syndrome (AIDS) and for the contribution of CMV and EBV to AIDS itself.

  18. AIDS

    MedlinePlus

    ... page: //medlineplus.gov/ency/article/000594.htm HIV/AIDS To use the sharing features on this page, ... immunodeficiency virus (HIV) is the virus that causes AIDS. When a person becomes infected with HIV, the ...

  19. How To Talk to Your Teens and Children about AIDS = Como hablar con sus adolescentes y sus ninos sobre el SIDA.

    ERIC Educational Resources Information Center

    National PTA, Chicago, IL.

    Two brochures, one in English and one in Spanish, provide parents with basic information that will enable them to educate their children about Acquired Immune Deficiency Syndrome (AIDS). Contents address 11 questions: (1) What is AIDS? (2) How do you get AIDS? (3) How is AIDS not spread? (4) Who can get AIDS? (5) How can you tell if someone has…

  20. Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome.

    PubMed

    Vurallı, Doğuş; Gönç, Nazlı; Vidaud, Dominique; Özön, Alev; Alikaşifoğlu, Ayfer; Kandemir, Nurgün

    2016-03-05

    Neurofibromatosis-Noonan syndrome (NFNS) is a distinct entity which shows the features of both NF1 (neurofibromatosis 1) and Noonan syndrome (NS). While growth hormone deficiency (GHD) has been relatively frequently identified in NF1 and NS patients, there is limited experience in NFNS cases. The literature includes only one case report of a NFNS patient having GHD and that report primarily focuses on the dermatological lesions that accompany the syndrome and not on growth hormone (GH) treatment. Here, we present a 13-year-old girl who had clinical features of NFNS with a mutation in the NF1 gene. The case is the first NFNS patient reported in the literature who was diagnosed to have GHD and who received GH treatment until reaching final height. The findings in this patient show that short stature is a feature of NFNS and can be caused by GHD. Patients with NFNS who show poor growth should be evaluated for GHD.

  1. Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome

    PubMed Central

    Vurallı, Doğuş; Gönç, Nazlı; Vidaud, Dominique; Özön, Alev; Alikaşifoğlu, Ayfer; Kandemir, Nurgün

    2016-01-01

    Neurofibromatosis-Noonan syndrome (NFNS) is a distinct entity which shows the features of both NF1 (neurofibromatosis 1) and Noonan syndrome (NS). While growth hormone deficiency (GHD) has been relatively frequently identified in NF1 and NS patients, there is limited experience in NFNS cases. The literature includes only one case report of a NFNS patient having GHD and that report primarily focuses on the dermatological lesions that accompany the syndrome and not on growth hormone (GH) treatment. Here, we present a 13-year-old girl who had clinical features of NFNS with a mutation in the NF1 gene. The case is the first NFNS patient reported in the literature who was diagnosed to have GHD and who received GH treatment until reaching final height. The findings in this patient show that short stature is a feature of NFNS and can be caused by GHD. Patients with NFNS who show poor growth should be evaluated for GHD. PMID:26758488

  2. Magnesium deficiency and metabolic syndrome: stress and inflammation may reflect calcium activation.

    PubMed

    Rayssiguier, Yves; Libako, Patrycja; Nowacki, Wojciech; Rock, Edmond

    2010-06-01

    Magnesium (Mg) intake is inadequate in the western diet and metabolic syndrome is highly prevalent in populations around the world. Epidemiological studies suggest that high Mg intake may reduce the risk but the possibility of confounding factors exists, given the strong association between Mg and other beneficial nutriments (vegetables, fibers, cereals). The concept that metabolic syndrome is an inflammatory condition may explain the role of Mg.Mg deficiency results in a stress effect and increased susceptibility to physiological damage produced by stress. Stress activates the hypothalamic-pituitary-adrenal axis (HPA) axis and the sympathetic nervous system. The activation of the renin-angiotensin-aldosterone system is a factor in the development of insulin resistance by increasing oxidative stress. In both humans and rats, aldosteronism results in an immunostimulatory state and leads to an inflammatory phenotype. Stress response induces the release of large quantities of excitatory amino acids and activates the nuclear factor NFkappaB, promoting translation of molecules involved in cell regulation, metabolism and apoptosis. The rise in neuropeptides is also well documented. Stress-induced HPA activation has been identified to play an important role in the preferential body fat accumulation but evidence that Mg is involved in body weight regulation is lacking. One of the earliest events in the acute response to stress is endothelial dysfunction. Endothelial cells actively contribute to inflammation by elaborating cytokines, synthesizing chemical mediators and expressing adhesion molecules. Experimental Mg deficiency in rats induces a clinical inflammatory syndrome characterized by leukocyte and macrophage activation, synthesis of inflammatory cytokines and acute phase proteins, extensive production of free radicals. An increase in extracellular Mg concentration decreases inflammatory effects, while reduction in extracellular Mg results in cell activation. The

  3. Physicians Mutual Aid Group: A Response to AIDS-Related Burnout.

    ERIC Educational Resources Information Center

    Garside, Bruce

    1993-01-01

    Describes origins and functioning of physician's mutual aid group for physicians providing primary care to people with Acquired Immune Deficiency Syndrome (AIDS). Offers suggestions related to overcoming resistance physicians might have to participating in such a group and reviews modalities that were helpful in facilitating participants' ability…

  4. Guide to Planning Health Promotion for AIDS Prevention and Control. WHO AIDS Series 5.

    ERIC Educational Resources Information Center

    World Health Organization, Geneva (Switzerland).

    This guide is intended to provide planners, managers, and technical staff with guidelines for planning, implementing, monitoring, and evaluating an Acquired Immune Deficiency Syndrome (AIDS) health promotion program. As such, it can be used in the development of a detailed AIDS health promotion action plan. The guide reviews the steps, processes,…

  5. AIDS: Information/Education Plan to Prevent and Control AIDS in the United States.

    ERIC Educational Resources Information Center

    Public Health Service (DHHS), Rockville, MD.

    This document presents a comprehensive Public Health Service plan for informing and educating the American public about Acquired Immune Deficiency Syndrome (AIDS). The plan specifies the audiences to be addressed by this effort, the basic elements of AIDS information and education, and the means by which this education will be accomplished. Mass…

  6. Extracerebral toxoplasmosis in the acquired immunodeficiency syndrome (AIDS).

    PubMed

    Hofman, P; Bernard, E; Michiels, J F; Thyss, A; Le Fichoux, Y; Loubière, R

    1993-09-01

    Although Toxoplasma gondii frequently causes lesions of the central nervous system in AIDS, the exact incidence of extracerebral toxoplasmosis in these immunodepressed patients remains difficult to determine. Isolation of the parasite outside the central nervous system is rarely performed ante mortem, and most diagnoses of extracerebral toxoplasmosis are made post mortem. This article describes 23 cases of extracerebral toxoplasmosis diagnosed between 1987 and 1991 in an autopsy series of 170 patients infected with the human immunodeficiency virus (HIV). Ante mortem diagnosis of extracerebral involvement was affirmed in 4 of these 23 patients by identification of trophozoites in bronchoalveolar lavage fluid (2 cases), a surgical pulmonary biopsy specimen, and a bladder biopsy. Clinical and paraclinical findings suggested cardiac involvement in 4 other patients. Post mortem examination demonstrated disseminated toxoplasmosis in 18 cases and extracerebral monovisceral involvement in 5 cases. Extracerebral toxoplasmosis was directly responsible for the death of 6 patients. The most frequent extracerebral sites of Toxoplasma gondii involvement were the heart (21/23 cases; 91%), the lungs (14/23 cases; 61%) and the pancreas (6/23 cases; 26%). The tissular consequences of toxoplasmic involvement varied considerably, from formation of pseudocysts or cysts without any surrounding inflammatory reaction to necrotic lesions rich in neutrophilic polynuclear cells containing numerous free parasites. Immunoperoxidase study using antitoxoplasmic antibodies contributed to the diagnosis of 8 extracerebral localizations. Electron microscopy examination of a surgical lung biopsy and myocardial specimens (2 cases) demonstrated the ultrastructural characteristics of Toxoplasma gondii trophozoites.(ABSTRACT TRUNCATED AT 250 WORDS)

  7. Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome

    PubMed Central

    Kreins, Alexandra Y.; Ciancanelli, Michael J.; Okada, Satoshi; Kong, Xiao-Fei; Ramírez-Alejo, Noé; Kilic, Sara Sebnem; El Baghdadi, Jamila; Nonoyama, Shigeaki; Mahdaviani, Seyed Alireza; Ailal, Fatima; Bousfiha, Aziz; Mansouri, Davood; Nievas, Elma; Ma, Cindy S.; Rao, Geetha; Bernasconi, Andrea; Sun Kuehn, Hye; Niemela, Julie; Stoddard, Jennifer; Deveau, Paul; Cobat, Aurelie; El Azbaoui, Safa; Sabri, Ayoub; Lim, Che Kang; Sundin, Mikael; Avery, Danielle T.; Halwani, Rabih; Grant, Audrey V.; Boisson, Bertrand; Bogunovic, Dusan; Itan, Yuval; Moncada-Velez, Marcela; Martinez-Barricarte, Ruben; Migaud, Melanie; Deswarte, Caroline; Alsina, Laia; Kotlarz, Daniel; Klein, Christoph; Muller-Fleckenstein, Ingrid; Fleckenstein, Bernhard; Cormier-Daire, Valerie; Rose-John, Stefan; Picard, Capucine; Hammarstrom, Lennart; Puel, Anne; Al-Muhsen, Saleh; Abel, Laurent; Chaussabel, Damien; Rosenzweig, Sergio D.; Minegishi, Yoshiyuki; Tangye, Stuart G.; Bustamante, Jacinta; Casanova, Jean-Laurent

    2015-01-01

    Autosomal recessive, complete TYK2 deficiency was previously described in a patient (P1) with intracellular bacterial and viral infections and features of hyper-IgE syndrome (HIES), including atopic dermatitis, high serum IgE levels, and staphylococcal abscesses. We identified seven other TYK2-deficient patients from five families and four different ethnic groups. These patients were homozygous for one of five null mutations, different from that seen in P1. They displayed mycobacterial and/or viral infections, but no HIES. All eight TYK2-deficient patients displayed impaired but not abolished cellular responses to (a) IL-12 and IFN-α/β, accounting for mycobacterial and viral infections, respectively; (b) IL-23, with normal proportions of circulating IL-17+ T cells, accounting for their apparent lack of mucocutaneous candidiasis; and (c) IL-10, with no overt clinical consequences, including a lack of inflammatory bowel disease. Cellular responses to IL-21, IL-27, IFN-γ, IL-28/29 (IFN-λ), and leukemia inhibitory factor (LIF) were normal. The leukocytes and fibroblasts of all seven newly identified TYK2-deficient patients, unlike those of P1, responded normally to IL-6, possibly accounting for the lack of HIES in these patients. The expression of exogenous wild-type TYK2 or the silencing of endogenous TYK2 did not rescue IL-6 hyporesponsiveness, suggesting that this phenotype was not a consequence of the TYK2 genotype. The core clinical phenotype of TYK2 deficiency is mycobacterial and/or viral infections, caused by impaired responses to IL-12 and IFN-α/β. Moreover, impaired IL-6 responses and HIES do not appear to be intrinsic features of TYK2 deficiency in humans. PMID:26304966

  8. Fear of AIDS and Risk Reduction among Heroin-Addicted Female Street Prostitutes: Personal Interviews with 72 Southern California Subjects.

    ERIC Educational Resources Information Center

    Bellis, David J.

    1990-01-01

    Interviewed 72 heroin-addicted female street prostitutes and assessed fear of Acquired Immune Deficiency Syndrome (AIDS), AIDS risk reduction behavior, and prostitutes' recommendations for AIDS risk reduction programs. Self-reported data showed that, although subjects were afraid of AIDS, irrationality produced by addiction compelled risky…

  9. [The use of growth hormone to treat endocrine-metabolic disturbances in acquired immunodeficiency syndrome (AIDS) patients].

    PubMed

    Spinola-Castro, Angela Maria; Siviero-Miachon, Adriana A; da Silva, Marcos Tadeu Nolasco; Guerra-Junior, Gil

    2008-07-01

    Acquired Immunodeficiency Syndrome (Aids) was initially related to HIV-associated wasting syndrome, and its metabolic disturbances to altered body composition. After Highly Active Antiretroviral Therapy (HAART) was started, malnutrition has declined and HIV-associated lipodystrophy syndrome has emerged as an important metabolic disorder. Aids is also characterized by hormonal disturbances, principally in growth hormone/insulin-like growth factor 1 (GH/IGF-1) axis. The use of recombinant human GH (hrGH) was formerly indicated to treat wasting syndrome, in order to increase lean body mass. Even though the use of hrGH in lipodystrophy syndrome has been considered, the decrease in insulin sensitivity is a limitation for its use, which has not been officially approved yet. Diversity in therapeutic regimen is another limitation to its use in Aids patients. The present study has reviewed the main HIV-related endocrine-metabolic disorders as well as the use of hrGH in such conditions.

  10. Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndrome

    PubMed Central

    Burnett, Lisa C.; LeDuc, Charles A.; Sulsona, Carlos R.; Paull, Daniel; Rausch, Richard; Eddiry, Sanaa; Carli, Jayne F. Martin; Morabito, Michael V.; Skowronski, Alicja A.; Hubner, Gabriela; Zimmer, Matthew; Wang, Liheng; Day, Robert; Levy, Brynn; Dubern, Beatrice; Poitou, Christine; Clement, Karine; Rosenbaum, Michael; Salles, Jean Pierre; Tauber, Maithe; Egli, Dieter

    2016-01-01

    Prader-Willi syndrome (PWS) is caused by a loss of paternally expressed genes in an imprinted region of chromosome 15q. Among the canonical PWS phenotypes are hyperphagic obesity, central hypogonadism, and low growth hormone (GH). Rare microdeletions in PWS patients define a 91-kb minimum critical deletion region encompassing 3 genes, including the noncoding RNA gene SNORD116. Here, we found that protein and transcript levels of nescient helix loop helix 2 (NHLH2) and the prohormone convertase PC1 (encoded by PCSK1) were reduced in PWS patient induced pluripotent stem cell–derived (iPSC-derived) neurons. Moreover, Nhlh2 and Pcsk1 expression were reduced in hypothalami of fasted Snord116 paternal knockout (Snord116p–/m+) mice. Hypothalamic Agrp and Npy remained elevated following refeeding in association with relative hyperphagia in Snord116p–/m+ mice. Nhlh2-deficient mice display growth deficiencies as adolescents and hypogonadism, hyperphagia, and obesity as adults. Nhlh2 has also been shown to promote Pcsk1 expression. Humans and mice deficient in PC1 display hyperphagic obesity, hypogonadism, decreased GH, and hypoinsulinemic diabetes due to impaired prohormone processing. Here, we found that Snord116p–/m+ mice displayed in vivo functional defects in prohormone processing of proinsulin, pro-GH–releasing hormone, and proghrelin in association with reductions in islet, hypothalamic, and stomach PC1 content. Our findings suggest that the major neuroendocrine features of PWS are due to PC1 deficiency. PMID:27941249

  11. Pseudo-Foster Kennedy Syndrome as a Rare Presentation of Vitamin B12 Deficiency

    PubMed Central

    Petramfar, Peyman; Hosseinzadeh, Farideh; Mohammadi, S. Saeed

    2016-01-01

    Introduction Pseudo-Foster Kennedy syndrome is a triad consisting of ipsilateral optic atrophy, contralateral optic disc edema, and ipsilateral anosmia in the absence of an intracranial mass. Vitamin B12 plays an important role in DNA synthesis, and its deficiency causes peripheral neuropathy, myeloneuropathy, and, very rarely, optic neuropathy. Case Presentation In this study, we describe a 34-year-old male who presented with progressive loss of visual acuity and field. Fundoscopy showed optic disc edema with telangiectasia in the right eye, while the left eye had optic disc atrophy. We ruled out nearly all possible and common causes of optic neuropathy, and vitamin B12 deficiency was finally diagnosed. After treatment with vitamin B12, the patient improved. Conclusions Demyelinating disease, anterior ischemic optic neuropathy, non-arteritic anterior ischemic optic neuropathy, autoimmune disease, and hereditary optic neuropathy could cause optic neuropathy. Normal CBC parameters and the absence of clinical manifestations of vitamin B12 deficiency could not rule out its diagnosis. Careful physical examinations and history-taking with a classical approach led us to the diagnosis of vitamin B12 deficiency and its treatment. PMID:27621919

  12. Frequent IgG subclass and mannose binding lectin deficiency in patients with chronic fatigue syndrome.

    PubMed

    Guenther, Sabrina; Loebel, Madlen; Mooslechner, Agnes A; Knops, Michael; Hanitsch, Leif G; Grabowski, Patricia; Wittke, Kirsten; Meisel, Christian; Unterwalder, Nadine; Volk, Hans-Dieter; Scheibenbogen, Carmen

    2015-10-01

    Chronic fatigue syndrome (CFS) is a severe disease characterized by various symptoms of immune dysfunction. CFS onset is typically with an infection and many patients suffer from frequently recurrent viral or bacterial infections. Immunoglobulin and mannose binding lectin (MBL) deficiency are frequent causes for increased susceptibility to infections. In this study we retrospectively analysed 300 patients with CFS for immunoglobulin and MBL levels, and B-cell subset frequencies. 25% of the CFS patients had decreased serum levels of at least one antibody class or subclass with IgG3 and IgG4 subclass deficiencies as most common phenotypes. However, we found elevated immunoglobulin levels with an excess of IgM and IgG2 in particular in another 25% of patients. No major alteration in numbers of B cells and B-cell subsets was seen. Deficiency of MBL was found in 15% of the CFS patients in contrast to 6% in a historical control group. In a 2nd cohort of 168 patients similar frequencies of IgG subclass and MBL deficiency were found. Thus, humoral immune defects are frequent in CFS patients and are associated with infections of the respiratory tract.

  13. Early-onset Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency

    PubMed Central

    Stepensky, Polina; Rensing-Ehl, Anne; Gather, Ruth; Revel-Vilk, Shoshana; Fischer, Ute; Nabhani, Schafiq; Beier, Fabian; Brümmendorf, Tim H.; Fuchs, Sebastian; Zenke, Simon; Firat, Elke; Pessach, Vered Molho; Borkhardt, Arndt; Rakhmanov, Mirzokhid; Keller, Bärbel; Warnatz, Klaus; Eibel, Hermann; Niedermann, Gabriele; Elpeleg, Orly

    2015-01-01

    Autoimmune cytopenia is a frequent manifestation of primary immunodeficiencies. Two siblings presented with Evans syndrome, viral infections, and progressive leukopenia. DNA available from one patient showed a homozygous frameshift mutation in tripeptidyl peptidase II (TPP2) abolishing protein expression. TPP2 is a serine exopeptidase involved in extralysosomal peptide degradation. Its deficiency in mice activates cell death programs and premature senescence. Similar to cells from naïve, uninfected TPP2-deficient mice, patient cells showed increased major histocompatibility complex I expression and most CD8+ T-cells had a senescent CCR7-CD127−CD28−CD57+ phenotype with poor proliferative responses and enhanced staurosporine-induced apoptosis. T-cells showed increased expression of the effector molecules perforin and interferon-γ with high expression of the transcription factor T-bet. Age-associated B-cells with a CD21− CD11c+ phenotype expressing T-bet were increased in humans and mice, combined with antinuclear antibodies. Moreover, markers of senescence were also present in human and murine TPP2-deficient fibroblasts. Telomere lengths were normal in patient fibroblasts and granulocytes, and low normal in lymphocytes, which were compatible with activation of stress-induced rather than replicative senescence programs. TPP2 deficiency is the first primary immunodeficiency linking premature immunosenescence to severe autoimmunity. Determination of senescent lymphocytes should be part of the diagnostic evaluation of children with refractory multilineage cytopenias. PMID:25414442

  14. Early-onset Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency.

    PubMed

    Stepensky, Polina; Rensing-Ehl, Anne; Gather, Ruth; Revel-Vilk, Shoshana; Fischer, Ute; Nabhani, Schafiq; Beier, Fabian; Brümmendorf, Tim H; Fuchs, Sebastian; Zenke, Simon; Firat, Elke; Pessach, Vered Molho; Borkhardt, Arndt; Rakhmanov, Mirzokhid; Keller, Bärbel; Warnatz, Klaus; Eibel, Hermann; Niedermann, Gabriele; Elpeleg, Orly; Ehl, Stephan

    2015-01-29

    Autoimmune cytopenia is a frequent manifestation of primary immunodeficiencies. Two siblings presented with Evans syndrome, viral infections, and progressive leukopenia. DNA available from one patient showed a homozygous frameshift mutation in tripeptidyl peptidase II (TPP2) abolishing protein expression. TPP2 is a serine exopeptidase involved in extralysosomal peptide degradation. Its deficiency in mice activates cell death programs and premature senescence. Similar to cells from naïve, uninfected TPP2-deficient mice, patient cells showed increased major histocompatibility complex I expression and most CD8(+) T-cells had a senescent CCR7-CD127(-)CD28(-)CD57(+) phenotype with poor proliferative responses and enhanced staurosporine-induced apoptosis. T-cells showed increased expression of the effector molecules perforin and interferon-γ with high expression of the transcription factor T-bet. Age-associated B-cells with a CD21(-) CD11c(+) phenotype expressing T-bet were increased in humans and mice, combined with antinuclear antibodies. Moreover, markers of senescence were also present in human and murine TPP2-deficient fibroblasts. Telomere lengths were normal in patient fibroblasts and granulocytes, and low normal in lymphocytes, which were compatible with activation of stress-induced rather than replicative senescence programs. TPP2 deficiency is the first primary immunodeficiency linking premature immunosenescence to severe autoimmunity. Determination of senescent lymphocytes should be part of the diagnostic evaluation of children with refractory multilineage cytopenias.

  15. Prolonged QT Syndrome and Seizure Secondary to Alkaline Earth Metal Deficiency: A Case Report.

    PubMed

    McKinney, A; Keegan, B C

    2011-01-01

    Introduction. Alkaline earth metal deficiency is recognized as a cause of both seizure and long QT syndrome. Their deficiency can have significant repercussions on the function of cells, tissues, and organs of the body. An understanding of the role of electrolytes allows an appreciation of the significance of depleted levels on cell function. Case Report. A 65-year-old lady was admitted with symptoms of chest discomfort, vomiting, increased stoma output, and dizziness. Two days following admission she suffered a tonic-clonic seizure. ECG review demonstrated a prolonged QTc interval, raising the possibility of an underlying Torsades de Pointes as the precipitant. This was attributed to electrolyte disturbance arising as a result of multiple aetiologies. Discussion. This paper highlights the multisystem effects of electrolyte disturbance, with emphasis upon its role in precipitating cardiac arrhythmia and neurological symptoms.

  16. Histidine decarboxylase deficiency causes Tourette syndrome: parallel findings in humans and mice

    PubMed Central

    Baldan, Lissandra Castellan; Rapanelli, Maximiliano; Crowley, Michael; Anderson, George M.; Loring, Erin; Gorczyca, Roxanne; Billingslea, Eileen; Wasylink, Suzanne; Panza, Kaitlyn E.; Ercan-Sencicek, A. Gulhan; Krusong, Kuakarun; Leventhal, Bennett L.; Ohtsu, Hiroshi; Bloch, Michael H.; Hughes, Zoë A.; Krystal, John H.; Mayes, Linda; de Araujo, Ivan; Ding, Yu-Shin; State, Matthew W.; Pittenger, Christopher

    2013-01-01

    Tourette syndrome (TS) is characterized by tics, sensorimotor gating deficiencies, and abnormalities of cortico-basal ganglia circuits. A mutation in histidine decarboxylase (Hdc), the key enzyme for the biosynthesis of histamine (HA), has been implicated as a rare genetic cause. Hdc knockout mice exhibited potentiated tic-like stereotypies, recapitulating core phenomenology of TS; these were mitigated by the dopamine D2 antagonist haloperidol, a proven pharmacotherapy, and by HA infusion into the brain. Prepulse inhibition was impaired in both mice and humans carrying Hdc mutations. HA infusion reduced striatal dopamine (DA) levels; in Hdc knockout mice, striatal DA was increased and the DA-regulated immediate early gene Fos was upregulated. Dopamine D2/D3 receptor binding was altered both in mice and in humans carrying the Hdc mutation. These data confirm HDC deficiency as a rare cause of TS and identify histamine-dopamine interactions in the basal ganglia as an important locus of pathology. PMID:24411733

  17. Deficient auditory processing in children with Asperger Syndrome, as indexed by event-related potentials.

    PubMed

    Jansson-Verkasalo, Eira; Ceponiene, Rita; Kielinen, Marko; Suominen, Kalervo; Jäntti, Ville; Linna, Sirkka Liisa; Moilanen, Irma; Näätänen, Risto

    2003-03-06

    Asperger Syndrome (AS) is characterized by normal language development but deficient understanding and use of the intonation and prosody of speech. While individuals with AS report difficulties in auditory perception, there are no studies addressing auditory processing at the sensory level. In this study, event-related potentials (ERP) were recorded for syllables and tones in children with AS and in their control counterparts. Children with AS displayed abnormalities in transient sound-feature encoding, as indexed by the obligatory ERPs, and in sound discrimination, as indexed by the mismatch negativity. These deficits were more severe for the tone stimuli than for the syllables. These results indicate that auditory sensory processing is deficient in children with AS, and that these deficits might be implicated in the perceptual problems encountered by children with AS.

  18. Contiguous gene deletion syndrome in a female with ornithine transcarbamylase deficiency.

    PubMed

    Balasubramaniam, S; Rudduck, C; Bennetts, B; Peters, G; Wilcken, B; Ellaway, C

    2010-01-01

    OTC deficiency, a partially dominant X-linked trait, is the most frequent inborn error of the urea cycle. We describe a female patient with a contiguous gene deletion syndrome encompassing the OTC, DMD, RPGR, CYBB and XK genes, amongst others, only manifesting features of OTC deficiency. Molecular characterization was ascertained by MLPA and confirmed by CGH microarray, which revealed an 8.7 Mb deletion of the X-chromosome. Complete de novo deletion of the OTC gene led to a severe clinical phenotype in the proband. The application of high resolution molecular genetic techniques such as MLPA and array CGH, in mutation negative OTC cases allows the identification of chromosomal rearrangements, such as large deletions and provides information for accurate genetic counseling and prenatal diagnosis.

  19. Adolescents, AIDS and HIV. Resources.

    ERIC Educational Resources Information Center

    Resources for Educators, 1990

    1990-01-01

    This compilation of educational resources is designed for communities which have been either overlooked in Acquired Immune Deficiency Syndrome (AIDS) education efforts or disproportionately affected by Human Immunodeficiency Virus (HIV) infection. The materials listed target Blacks, Latinos, Asians and Pacific Islanders, Native Americans, young…

  20. AIDS Victims and Heterosexual Attitudes.

    ERIC Educational Resources Information Center

    Larsen, Knud S.; And Others

    This study reports on the development of a Likert scale measuring attitudes toward Acquired Immune Deficiency Syndrome (AIDS) victims (ATAV) in five phases. Participants included a total of 215 male and 268 female undergraduates at Oregon State University. The results for phase 1 yielded a scale with high part-whole correlations, corrected…

  1. AIDS Elementary/Intermediate Curriculum.

    ERIC Educational Resources Information Center

    Kellogg, Nancy Rader

    This Acquired Immune Deficiency Syndrome (AIDS) Curriculum was developed for intermediate elementary (5th, 6th, and 7th grade) students. It is an integrated unit that encompasses health, science, social studies, math, and language arts. The curriculum is comprised of nine class activities designed to meet the following objectives: (1) to determine…

  2. Topical Search: AIDS and Youth.

    ERIC Educational Resources Information Center

    Department of Justice, Washington, DC. National Inst. of Justice.

    This topical search includes 30 of the most representative citations on the subject of Acquired Immune Deficiency Syndrome (AIDS) and youth selected from the National Institute of Justice/NCJRS (National Criminal Justice Reference Service) database. Topics covered in this package include education programs for in-school youth, policies and…

  3. Decreased expression of human class II antigens on monocytes from patients with acquired immune deficiency syndrome. Increased expression with interferon-gamma.

    PubMed Central

    Heagy, W; Kelley, V E; Strom, T B; Mayer, K; Shapiro, H M; Mandel, R; Finberg, R

    1984-01-01

    The expression of HLA-DR (a class II histocompatibility antigen) on monocytes isolated from the peripheral blood of normal individuals and patients with acquired immune deficiency syndrome (AIDS) was investigated by the use of dual fluorescent staining and cytofluorometry. In animal models the absence of class II positive monocytes is linked to a failure of T cells to respond to antigens. We now report that patients with AIDS have a paucity of HLA-DR+ monocytes. The percentage of HLA-DR+ monocytes among eight normal individuals ranged from 49.3 to 95.0%+, and only one individual had less than 50% HLA-DR+ monocytes. HLA-DR expression on monocytes from homosexual male patients with lymphadenopathy was similar to that of normal subjects (range, 58.0 to 97.4%+). In contrast, seven of nine patients with AIDS had less than 50% HLA-DR+ monocytes (range, 13.4 to 78.8%+). The in vitro incubation of monocytes from AIDS patients with cloned human interferon-gamma resulted in an increase of the expression of HLA-DR to near normal levels. PMID:6439741

  4. Utility of /sup 67/Ga scintigraphy and bronchial washings in the diagnosis and treatment of Pneumocystis carinii pneumonia in patients with the acquired immune deficiency syndrome

    SciTech Connect

    Tuazon, C.U.; Delaney, M.D.; Simon, G.L.; Witorsch, P.; Varma, V.M.

    1985-11-01

    Twenty patients with the acquired immune deficiency syndrome (AIDS) and suspected Pneumocystis carinii pneumonia were evaluated by /sup 67/Ga scintigraphy and fiberoptic bronchoscopy for initial diagnosis and response to therapy. Lung uptake of /sup 67/Ga was demonstrated in 100% of AIDS patients with P. carinii pneumonia, including those with subclinical infection. Fiberoptic bronchoscopy identified P. carinii in the bronchial washings of 100% of cases (19 patients), whereas only 13 of 16 (81%) patients had P. carinii in lung tissue obtained by transbronchial biopsy. Repeat fiberoptic bronchoscopy was performed in 16 of 20 patients. After 2 to 4 wk of therapy, P. carinii was identified in bronchial washings in 8 of 16 (50%) patients and in transbronchial biopsy in 1 of 10 (10%) patients examined. Bronchial washing has a higher yield than transbronchial biopsy in demonstrating P. carinii in patients with AIDS and may evolve as the procedure of choice in such patients. Based on the clinical course and results of /sup 67/Ga scintigraphy and fiberoptic bronchoscopy in AIDS patients with P. carinii pneumonia, optimal therapy may require at least 3 wk of treatment.

  5. Severe hypophosphatemic osteomalacia with Fanconi syndrome, renal tubular acidosis, vitamin D deficiency and primary biliary cirrhosis.

    PubMed

    Bando, Hironori; Hashimoto, Naoko; Hirota, Yushi; Sakaguchi, Kazuhiko; Hisa, Itoko; Inoue, Yoshifumi; Imanishi, Yasuo; Seino, Susumu; Kaji, Hiroshi

    2009-01-01

    A 49-year-old woman was admitted to our hospital for back pain with marked thoracic and extremity deformities leading to bed-rest for three years. She was diagnosed with hypophosphatemic osteomalacia based on her symptoms, X-ray and bone scintigram, high serum alkaline phosphatase level, and low serum levels of both phosphorus and 1,25 dihydroxyvitamin D(3) with inhibition of phosphorus reabsorption. Fanconi syndrome with renal tubular acidosis, vitamin D deficiency and primary biliary cirrhosis were related to the pathogenesis of osteomalacia in this case. Several causal diseases may be concomitantly responsible for acceleration of the severity of osteomalacia in this patient.

  6. Carnitine deficiency and oxidative stress provoke cardiotoxicity in an ifosfamide-induced Fanconi Syndrome rat model

    PubMed Central

    Darweesh, Amal Q; Fatani, Amal J

    2010-01-01

    In addition to hemorrhagic cystitis, Fanconi Syndrome is a serious clinical side effect during ifosfamide (IFO) therapy. Fanconi syndrome is a generalized dysfunction of the proximal tubule which is characterized by excessive urinary excretion of glucose, phosphate, bicarbonate, amino acids and other solutes excreted by this segment of the nephron including L-carnitine. Carnitine is essential cofactor for β-oxidation of long-chain fatty acids in the myocardium. IFO therapy is associated with increased urinary carnitine excretion with subsequent secondary deficiency of the molecule. Cardiac abnormalities in IFO-treated cancer patients were reported as isolated clinical cases. This study examined whether carnitine deficiency and oxidative stress, secondary to Fanconi Syndrome, provoke IFO-induced cardiomyopathy as well as exploring if carnitine supplementation using Propionyl-L-carnitine (PLC) could offer protection against this toxicity. In the current study, an animal model of carnitine deficiency was developed in rats by D-carnitine-mildronate treatment Adult male Wistar albino rats were assigned to one of six treatment groups: the first three groups were injected intraperitoneally with normal saline, D-carnitine (DC, 250 mg/kg/day) combined with mildronate (MD, 200 mg/kg/day) and PLC (250 mg/kg/day), respectively, for 10 successive days. The 4th, 5th and 6th groups were injected with the same doses of normal saline, DC-MD and PLC, respectively for 5 successive days before and 5 days concomitant with IFO (50 mg/kg/day). IFO significantly increased serum creatinine, blood urea nitrogen (BUN), urinary carnitine excretion and clearance, creatine phosphokinase isoenzyme (CK-MB), lactate dehydrogenase (LDH), intramitochondrial acetyl-CoA/CoA-SH and thiobarbituric acid reactive substances (TBARS) in cardiac tissues and significantly decreased adenosine triphosphate (ATP) and total carnitine and reduced glutathione (GSH) content in cardiac tissues. In carnitine

  7. An unusual combination of Klinefelter syndrome and growth hormone deficiency in a prepubertal child.

    PubMed

    Ramesh, Jayanthy; Nagasatyavani, Mudiganti; Venkateswarlu, Javvadii; Nagender, Jakka

    2014-09-01

    Klinefelter syndrome (KS) is the most common chromosomal aneuploidy in males. It is very difficult to diagnose this disorder in childhood due to absence of significant manifestations before puberty. These patients usually present with tall stature. We report a case of KS with short stature due to growth hormone deficiency. The boy's height was below the 3rd centile with significant delay in bone age. He responded well to growth hormone injections. In view of mental subnormality karyotyping was done, which revealed KS (47XXY).

  8. A Case of Carbonic Anhydrase Type 2 Deficiency Syndrome with Autistic Disorder

    PubMed Central

    KILIÇ, Birim Günay; UĞUR, Çağatay; SADAY DUMAN, Nagihan; AKÇAKIN, Melda

    2014-01-01

    Carbonic Anhydrase Type II Deficiency Syndrome (CADS) is a disease with an autosomal recessive inheritance that mainly includes characteristics of osteopetrosis, renal tubular acidosis and cerebral calcification. Pathological fractures, poor vision due to cranial nerve pressure, wide forehead, disproportionate mouth and jaw, physical and mental developmental delay are other features. In this paper, we present the case of a patient who was referred to our department with a diagnosis of CADS and diagnosed with autistic disorder after a psychiatric evaluation. We performed a detailed literature search, however, we did not find any report of co-existence of CADS (osteopetrosis intermediate type) and autistic disorder.

  9. Acquired immune deficiency syndrome: recommendations of a working party of the Hospital Infection Society.

    PubMed

    1985-12-01

    Unified procedures to control those infections that are transmitted by inoculation of blood are recommended. These should be applied to patients with overt acquired immune deficiency syndrome, persistent generalized lymphadenopathy or hepatitis B, those with serological evidence of infection by HTLV III or hepatitis B virus, and those in medical and social categories with a higher than average prevalence of such infections. Rational infection control measures, based on the known modes of spread, permit efficient management of infected patients, with satisfactory protection of staff and other patients.

  10. Hematological aspect of Rh deficiency syndrome: a case report and a review of the literature

    SciTech Connect

    Nash, R.; Shojania, A.M.

    1987-03-01

    The hematological aspects of the original case of Rhmod are reported. The subject, as in other reported cases, had a chronic hemolytic anemia characterized by stomatocytosis, reduced osmotic fragility, and abnormal autohemolysis correctable with the addition of glucose. The /sup 51/Cr red cell survival studies showed the spleen to be the preferential site of red cell destruction and splenectomy produced a dramatic improvement in red cell survival. The topic of Rh deficiency syndrome (Rhnull and Rhmod) is briefly reviewed with regard to the number of cases reported, to genetic aspects, to the hematological findings, and to the results of splenectomy.

  11. Development and Evaluation of a Complementary and Alternative Medicine Use Survey in African-Americans with Acquired Immune Deficiency Syndrome

    PubMed Central

    Sterk, Claire; McCarty, Frances; Hankerson-Dyson, Dana; DiClemente, Ralph

    2010-01-01

    Abstract Objectives The purpose of the current study was to develop and evaluate the psychometric properties of a culturally- and stage-of-disease-appropriate measure of complementary and alternative medicine (CAM) use among a population of African-American individuals with acquired immune deficiency syndrome (AIDS) using a mixed-method design. Design Data were collected in two phases. In phase 1, qualitative data were used to refine an existing CAM measure for the specific study population in the present study. In phase 2, this refined instrument was implemented in a larger sample. The resulting numeric data were analyzed to evaluate the psychometric properties of the revised CAM instrument. Setting Data were collected from patients who were receiving care from the infectious disease clinic of a large, public, urban hospital in the Southeastern United States. Subjects Patients were eligible to participate if they (1) were receiving their care from the clinic, (2) had an AIDS diagnosis, (3) were identified as African-American, (4) were ≥21 years of age, (5) spoke English, and (6) were not cognitively impaired. Measures Focus groups in phase 1 were conducted with a semistructured focus group guide. Participants also completed a basic sociodemographic survey. Phase 2 participants used programmed laptops to answer questions about their CAM use and several sociodemographic questions. Results Information from the focus groups prompted some substantive revisions in the already-existing CAM survey. The revised instrument had satisfactory face validity and adequate test–retest reliability (r = 0.79). Furthermore, the instrument factored in a manner that was interpretable and consistent with prior findings. Conclusions In order for human immunodeficiency virus health care providers to provide the best care to their patients, they need to be informed about the types and frequency of CAM use among their patients. This can be accomplished by methodologically developing

  12. Inherited ADAMTS13 deficiency (Upshaw-Schulman syndrome): a short review.

    PubMed

    Pérez-Rodríguez, Almudena; Lourés, Esther; Rodríguez-Trillo, Ángela; Costa-Pinto, Joana; García-Rivero, Aránzazu; Batlle-López, Ana; Batlle, Javier; López-Fernández, María Fernanda

    2014-12-01

    Congenital thrombotic thrombocytopenic purpura (TTP), also known as Upshaw-Schulman syndrome, is associated with an inherited deficiency of ADAMTS13, a von Willebrand factor-cleaving protease. It is a rare, life-threatening disorder characterized by thrombocytopenia, hemolytic anemia, neurological symptoms, renal dysfunction, and fever resulting from formation of platelet thrombi within the microvasculature. Patients have initial episodes mainly during infancy or early childhood, and are conventionally treated with fresh frozen plasma. However, a more appropriate approach based on recombinant ADAMTS13 is slated to begin shortly. Mutations throughout the ADAMTS13 have been identified in congenital TTP patients. The prevalence of this entity is probably underestimated because it is often not suspected, the clinical course is usually heterogeneous and most of the symptoms are common to other diseases. The present review summarizes our current knowledge about Upshaw-Schulman syndrome.

  13. A Generation in Jeopardy: Children and AIDS. A Report of the Select Committee on Children, Youth, and Families. U.S. House of Representatives, One Hundredth Congress, First Session (December 1987).

    ERIC Educational Resources Information Center

    Congress of the U.S., Washington, DC. House Select Committee on Children, Youth, and Families.

    This document presents a Congressional report on the topic of children and Acquired Immune Deficiency Syndrome (AIDS). These topics are addressed: (1) dramatic increases in AIDS among infants and young children; (2) differences in pediatric AIDS and AIDS among adults; (3) minority children's disproportional rate of infection with AIDS; (4)…

  14. Tenascin-x deficiency mimics ehlers-danlos syndrome in mice through alteration of collagen deposition

    SciTech Connect

    Mao, J.R.; Taylor, G.; Dean, W.B.; Wagner, D.R.; Afzal, V.; Lotz, J.C.; Rubin, E.M.; Bristow, J.

    2002-03-01

    Tenascin-X is a large extracellular matrix protein of unknown function1-3. Tenascin-X deficiency in humans is associated with Ehlers-Danlos syndrome4,5, a generalized connective tissue disorder resulting from altered metabolism of the fibrillar collagens6. Because TNXB is the first Ehlers-Danlos syndrome gene that does not encode a fibrillar collagen or collagen-modifying enzyme7-14, we suggested that tenascin-X might regulate collagen synthesis or deposition15. To test this hypothesis, we inactivated Tnxb in mice. Tnxb-/- mice showed progressive skin hyperextensibility, similar to individuals with Ehlers-Danlos syndrome. Biomechanical testing confirmed increased deformability and reduced tensile strength of their skin. The skin of Tnxb-/- mice was histologically normal, but its collagen content was significantly reduced. At the ultrastructural level, collagen fibrils of Tnxb-/- mice were of normal size and shape, but the density of fibrils in their skin was reduced, commensurate with the reduction in collagen content. Studies of cultured dermal fibroblasts showed that although synthesis of collagen I by Tnxb-/- and wildtype cells was similar, Tnxb-/- fibroblasts failed to deposit collagen I into cell-associated matrix. This study confirms a causative role for TNXB in human Ehlers-Danlos syndrome and suggests that tenascin-X is an essential regulator of collagen deposition by dermal fibroblasts.

  15. Women and AIDS: What We Need To Know. A Workshop and Resource Manual on Educating Women about AIDS and Safer Sex (January 1988).

    ERIC Educational Resources Information Center

    Redman, Julie M.

    This document focuses on women and Acquired Immune Deficiency Syndrome (AIDS). The first part discusses the topic of women and AIDS. A workshop is described and a agenda provided. The role of facilitators is discussed. Materials required for the workshop are listed. The second section presents a curriculum on women and AIDS. An overview of the…

  16. Learning about AIDS. Interim Materials. Participatory Health Education Strategies for Health Educators with a Responsibility for Adult Education about AIDS [and] Update.

    ERIC Educational Resources Information Center

    Homans, Hilary; And Others

    Intended for those who are responsible for educating other educators about AIDS (Acquired Immune Deficiency Syndrome), these materials are designed to result in learner-centered instruction about AIDS--helping students of all kinds explore their own anxieties about AIDS and consider the implications of factual information for their own behavior…

  17. Adenosine receptors as markers of brain iron deficiency: Implications for Restless Legs Syndrome.

    PubMed

    Quiroz, César; Gulyani, Seema; Ruiqian, Wan; Bonaventura, Jordi; Cutler, Roy; Pearson, Virginia; Allen, Richard P; Earley, Christopher J; Mattson, Mark P; Ferré, Sergi

    2016-12-01

    Deficits of sensorimotor integration with periodic limb movements during sleep (PLMS) and hyperarousal and sleep disturbances in Restless Legs Syndrome (RLS) constitute two pathophysiologically distinct but interrelated clinical phenomena, which seem to depend mostly on alterations in dopaminergic and glutamatergic neurotransmission, respectively. Brain iron deficiency is considered as a main pathogenetic mechanism in RLS. Rodents with brain iron deficiency represent a valuable pathophysiological model of RLS, although they do not display motor disturbances. Nevertheless, they develop the main neurochemical dopaminergic changes found in RLS, such as decrease in striatal dopamine D2 receptor density. On the other hand, brain iron deficient mice exhibit the characteristic pattern of hyperarousal in RLS, providing a tool to find the link between brain iron deficiency and sleep disturbances in RLS. The present study provides evidence for a role of the endogenous sleep-promoting factor adenosine. Three different experimental preparations, long-term (22 weeks) severe or moderate iron-deficient (ID) diets (3- or 7-ppm iron diet) in mice and short-term (3 weeks) severe ID diet (3-ppm iron diet) in rats, demonstrated a significant downregulation (Western blotting in mouse and radioligand binding saturation experiments in rat brain tissue) of adenosine A1 receptors (A1R) in the cortex and striatum, concomitant to striatal D2R downregulation. On the other hand, the previously reported upregulation of adenosine A2A receptors (A2AR) was only observed with severe ID in both mice and rats. The results suggest a key role for A1R downregulation in the PLMS and hyperarousal in RLS.

  18. Effects of anticonvulsants on GLUT1-mediated glucose transport in GLUT1 deficiency syndrome in vitro.

    PubMed

    Klepper, Jörg; Flörcken, Anne; Fischbarg, Jorge; Voit, Thomas

    2003-02-01

    Facilitative type-1 glucose transporter (GLUT1) deficiency syndrome is caused by a defect of glucose transport into brain, resulting in an epileptic encephalopathy. Seizures respond effectively to a ketogenic diet, but a subgroup of patients require add-on anticonvulsant therapy or do not tolerate the diet. With the exception of barbiturates, which have been shown to inhibit GLUT1 function, no anticonvulsants have been investigated for possible interactions with GLUT1. Kinetic analyses of (14)C-labeled 3-O-methyl glucose (3OMG) uptake into erythroctes were performed in 11 patients and 30 controls. For in vitro inhibition studies, zero-trans influx of 3OMG (5 mmol/L) into erythrocytes was determined following preincubation with diazepam, carbamazepine, phenytoin, and chloralhydrate. In addition, the effects of ethanol on cell lysis and 3OMG transport into erythrocytes were determined. In patients, mean 3OMG influx was 53% of controls. Ethanol, diazepam, and chloralhydrate significantly inhibited GLUT1 function. Erythrocyte cell lysis was evident at concentrations of 2.5% ethanol. Diazepam, chloralhydrate, and ethanol are inhibitors of GLUT1 function in vitro and might potentiate the effects of GLUT1-mediated glucose transport in patients with GLUT1 deficiency syndrome. In contrast, no inhibitory effects were observed for carbamazepine and phenytoin, indicating that these substances might be preferable for additional seizure control in this disorder.

  19. Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome

    PubMed Central

    Oudesluijs, Grétel; Li, Zhi; Heijsman, Daphne; Hermann, Mark; Willemsen, Rob; Brouwer, Rutger W.W.; Bertoli Avella, Aida; Prinz, Marco; Crow, Yanick J.; Verheijen, Frans W.

    2016-01-01

    Pseudo-TORCH syndrome (PTS) is characterized by microcephaly, enlarged ventricles, cerebral calcification, and, occasionally, by systemic features at birth resembling the sequelae of congenital infection but in the absence of an infectious agent. Genetic defects resulting in activation of type 1 interferon (IFN) responses have been documented to cause Aicardi-Goutières syndrome, which is a cause of PTS. Ubiquitin-specific peptidase 18 (USP18) is a key negative regulator of type I IFN signaling. In this study, we identified loss-of-function recessive mutations of USP18 in five PTS patients from two unrelated families. Ex vivo brain autopsy material demonstrated innate immune inflammation with calcification and polymicrogyria. In vitro, patient fibroblasts displayed severely enhanced IFN-induced inflammation, which was completely rescued by lentiviral transduction of USP18. These findings add USP18 deficiency to the list of genetic disorders collectively termed type I interferonopathies. Moreover, USP18 deficiency represents the first genetic disorder of PTS caused by dysregulation of the response to type I IFNs. Therapeutically, this places USP18 as a promising target not only for genetic but also acquired IFN-mediated CNS disorders. PMID:27325888

  20. Biotin deficiency and liver metabolism in relation to fatty liver and kidney syndrome.

    PubMed

    Pearce, J; Balnave, D

    1978-07-01

    Varying degrees of biotin deficiency were induced by adding freeze-dried, raw egg white to the diet of broiler chicks. Aspects of liver metabolism were studied with reference to fatty liver and kidney syndrome. Mortality was low with 11.8 g egg white/kg diet, or less, but with 17.7 g/kg or more, mortality was very high. High mortality was observed with less than 0.33 microgram biotin/g liver. Associated with low concentrations of liver biotin were substantial increases in liver weight and lipid content in starved birds. The increased liver lipid content was not observed in birds fed ad libitum. The increased liver lipid content in biotin-deficient, starved birds was not reflected in the specific activities of hepatic lipogenic enzymes or hepatic lipogenesis in vivo measured by the incorporation of tritium from 3H-labelled water into liver lipid. Biotin deficiency affected the specific activities of the biotin-requiring enzymes, pyruvate carboxylase and acetyl CoA carboxylase, differently; the latter was unaffected whereas the former decreased concomitantly with liver biotin concentration.

  1. Gray platelet syndrome and defective thrombo-inflammation in Nbeal2-deficient mice.

    PubMed

    Deppermann, Carsten; Cherpokova, Deya; Nurden, Paquita; Schulz, Jan-Niklas; Thielmann, Ina; Kraft, Peter; Vögtle, Timo; Kleinschnitz, Christoph; Dütting, Sebastian; Krohne, Georg; Eming, Sabine A; Nurden, Alan T; Eckes, Beate; Stoll, Guido; Stegner, David; Nieswandt, Bernhard

    2013-07-01

    Platelets are anuclear organelle-rich cell fragments derived from bone marrow megakaryocytes (MKs) that safeguard vascular integrity. The major platelet organelles, α-granules, release proteins that participate in thrombus formation and hemostasis. Proteins stored in α-granules are also thought to play a role in inflammation and wound healing, but their functional significance in vivo is unknown. Mutations in NBEAL2 have been linked to gray platelet syndrome (GPS), a rare bleeding disorder characterized by macrothrombocytopenia, with platelets lacking α-granules. Here we show that Nbeal2-knockout mice display the characteristics of human GPS, with defective α-granule biogenesis in MKs and their absence from platelets. Nbeal2 deficiency did not affect MK differentiation and proplatelet formation in vitro or platelet life span in vivo. Nbeal2-deficient platelets displayed impaired adhesion, aggregation, and coagulant activity ex vivo that translated into defective arterial thrombus formation and protection from thrombo-inflammatory brain infarction following focal cerebral ischemia. In a model of excisional skin wound repair, Nbeal2-deficient mice exhibited impaired development of functional granulation tissue due to severely reduced differentiation of myofibroblasts in the absence of α-granule secretion. This study demonstrates that platelet α-granule constituents are critically required not only for hemostasis but also thrombosis, acute thrombo-inflammatory disease states, and tissue reconstitution after injury.

  2. Mechanism of choline deficiency and membrane alteration in postural orthostatic tachycardia syndrome primary skin fibroblasts.

    PubMed

    Schenkel, Laila C; Singh, Ratnesh K; Michel, Vera; Zeisel, Steven H; da Costa, Kerry-Ann; Johnson, Amy R; Mudd, Harvey S; Bakovic, Marica

    2015-05-01

    Fibroblasts from a patient with postural orthostatic tachycardia syndrome (POTS), who presented with low plasma choline and betaine, were studied to determine the metabolic characteristics of the choline deficiency. Choline is required for the synthesis of the phospholipid phosphatidylcholine (PC) and for betaine, an important osmoregulator. Here, choline transport, lipid homeostasis, and mitochondria function were analyzed in skin fibroblasts from POTS and compared with control cells. The choline transporter-like protein 1/solute carrier 44A1 (CTL1/SLC44A1) and mRNA expression were 2-3 times lower in POTS fibroblasts, and choline uptake was reduced 60% (P < 0.05). Disturbances of membrane homeostasis were observed by reduced ratios between PC:phosphatidylethanolamine and sphingomyelin:cholesterol, as well as by modified phospholipid fatty acid composition. Choline deficiency also impaired mitochondria function, which was observed by a reduction in oxygen consumption, mitochondrial potential, and glycolytic activity. When POTS cells were treated with choline, transporter was up-regulated, and uptake of choline increased, offering an option for patient treatment. The characteristics of the POTS fibroblasts described here represent a first model of choline and CTL1/SLC44A1 deficiency, in which choline transport, membrane homeostasis, and mitochondrial function are impaired.

  3. CHST14/D4ST1 deficiency: New form of Ehlers-Danlos syndrome.

    PubMed

    Kosho, Tomoki

    2016-02-01

    Carbohydrate sulfotransferase 14/dermatan 4-O-sulfotransferase-1 (CHST14/D4ST1) deficiency represents a specific form of Ehlers-Danlos syndrome (EDS) caused by recessive loss-of-function mutations in CHST14. The disorder has been independently termed "adducted thumb-clubfoot syndrome", "EDS, Kosho type", and "EDS, musculocontractural type". To date, 31 affected patients from 21 families have been described. Clinically, CHST14/D4ST1 deficiency is characterized by multiple congenital malformations (craniofacial features including large fontanelle, hypertelorism, short and downslanting palpebral fissures, blue sclerae, short nose with hypoplastic columella, low-set and rotated ears, high palate, long philtrum, thin upper lip vermilion, small mouth, and micro-retrognathia; multiple congenital contractures including adduction-flexion contractures and talipes equinovarus as well as other visceral or ophthalmological malformations) and progressive multisystem fragility-related complications (skin hyperextensibility, bruisability, and fragility with atrophic scars; recurrent dislocations; progressive talipes or spinal deformities; pneumothorax or pneumohemothorax; large subcutaneous hematomas; and diverticular perforation). Etiologically, multisystem fragility is presumably caused by impaired assembly of collagen fibrils resulting from loss of dermatan sulfate (DS) in the decorin glycosaminoglycan side chain that promotes electrostatic binding between collagen fibrils. This is the first reported human disorder that specifically affects biosynthesis of DS. Its clinical characteristics indicate that CHST14/D4ST1 and, more fundamentally, DS, play a critical role in fetal development and maintenance of connective tissues in multiple organs. Considering that patients with CHST14/D4ST1 deficiency develop progressive multisystem fragility-related manifestations, establishment of a comprehensive and detailed natural history and health-care guidelines as well as further elucidation

  4. Ethical Issues in the Prevention and Treatment of HIV Infection and AIDS.

    ERIC Educational Resources Information Center

    Walters, LeRoy

    1988-01-01

    Poses questions about how we can control the acquired immune deficiency syndrome (AIDS) epidemic and the harm that it causes without unjustly discriminating against particular social groups and without unnecessarily infringing on the freedom of individuals. (TW)

  5. Getting Started. Becoming Part of the AIDS Solution. A Guide for Hispanic Community-Based Organizations.

    ERIC Educational Resources Information Center

    Fimbres, Manuel F.; McKay, Emily Gantz

    This guide is designed to help Hispanic community-based organizations (CBOs) begin Acquired Immune Deficiency Syndrome (AIDS) education and prevention activities. The following barriers to AIDS education in the Hispanic community are outlined: (1) the perception that AIDS is a gay, white, male disease; (2) the social stigma associated with…

  6. Coping with AIDS: Psychological and Social Considerations in Helping People with HTLV-III Infection.

    ERIC Educational Resources Information Center

    Runck, Bette

    This booklet was written to familiarize health and mental health professionals and paraprofessionals with the psychological and social problems associated with acquired immune deficiency syndrome (AIDS). It briefly reviews the realities of AIDS and describes the challenge that AIDS poses for health care professionals. A section on neuropsychiatric…

  7. Psychosocial Impact of the AIDS Epidemic on the Lives of Gay Men.

    ERIC Educational Resources Information Center

    Stulberg, Ian; Smith, Margaret

    1988-01-01

    Assessed the psychosocial impact of the Acquired Immune Deficiency Syndrome (AIDS) epidemic on the lives of homosexual men (N=301) who had not been diagnosed with AIDS or AIDS Related Complex (ARC). Found subjects reported increasing frequency of no-risk sexual activities and decreased frequency of possible risk and high-risk activities. (ABL)

  8. Psychological Distress amongst AIDS-Orphaned Children in Urban South Africa

    ERIC Educational Resources Information Center

    Cluver, Lucie; Gardner, Frances; Operario, Don

    2007-01-01

    Background: South Africa is predicted to have 2.3 million children orphaned by Acquired Immune Deficiency Syndrome (AIDS) by 2020 (Actuarial Society of South Africa, 2005). There is little knowledge about impacts of AIDS-related bereavement on children, to aid planning of services. This study aimed to investigate psychological consequences of AIDS…

  9. Alternative Techniques for Teaching about HIV/AIDS in the Classroom.

    ERIC Educational Resources Information Center

    Peace Corps, Washington, DC. Information Collection and Exchange Div.

    This volume is a collection of interactive games and activities created to supplement existing curricula on Acquired Immune Deficiency Syndrome (AIDS) and designed to give students a sense of responsibility in the fight against AIDS while taking the fear out of AIDS education. All of the games and activities in the volume have undergone…

  10. Serum MicroRNA Profiling and Bioinformatics of Patients with Spleen-Deficiency Syndrome

    PubMed Central

    Chen, Long-Hui; Hong, Min; Yang, Xiao-Rong; Tang, Si-Meng; Yuan, Qian-Fa; He, Zhen-Yu; Chen, Wei-Wen

    2016-01-01

    To investigate serum microRNA (miRNA) profile and bioinformatics of patients with spleen-deficiency syndrome (SDS) and explore pathogenesis of SDS patients from miRNA levels, 10 patients with type 2 diabetes mellitus (T2DM), within which 5 patients were with SDS and the remaining were with blood stasis syndrome (BSS), and 5 healthy volunteers were recruited. Serum miRNA profiles of SDS patients were identified by quantitative PCR array. Target prediction and functional annotation for miRNAs were performed by miRSystem database. The present study identified 11 candidate serum miRNAs for SDS patients, and their targets were significantly enriched in 18 KEGG pathways and 7 GO molecular functions. Those enriched KEGG pathways included (1) metabolisms of carbohydrate, protein, amino acid, and fatty acid, (2) signaling pathways of insulin, ErbB, chemokine, calcium, and type II diabetes mellitus, (3) invasions of bacterium, Escherichia coli, and Shigella (Shigellosis), and (4) endocytosis and phagocytosis. Those enriched GO molecular functions were mainly involved in transcription regulation and regulation of metabolism. Our findings might elucidate the pathogenesis of SDS patients with disorders of substance metabolism and hypoimmunity from miRNA levels, as well as providing some miRNA biomarkers for clinical syndrome differentiation of SDS. PMID:27994634

  11. Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS).

    PubMed

    Pearson, Toni S; Akman, Cigdem; Hinton, Veronica J; Engelstad, Kristin; De Vivo, Darryl C

    2013-04-01

    Glut1 deficiency syndrome (Glut1 DS) was originally described in 1991 as a developmental encephalopathy characterized by infantile onset refractory epilepsy, cognitive impairment, and mixed motor abnormalities including spasticity, ataxia, and dystonia. The clinical condition is caused by impaired glucose transport across the blood brain barrier. The past 5 years have seen a dramatic expansion in the range of clinical syndromes that are recognized to occur with Glut1 DS. In particular, there has been greater recognition of milder phenotypes. Absence epilepsy and other idiopathic generalized epilepsy syndromes may occur with seizure onset in childhood or adulthood. A number of patients present predominantly with movement disorders, sometimes without any accompanying seizures. In particular, paroxysmal exertional dyskinesia is now a well-documented clinical feature that occurs in individuals with Glut1 DS. A clue to the diagnosis in patients with paroxysmal symptoms may be the triggering of episodes during fasting or exercise. Intellectual impairment may range from severe to very mild. Awareness of the broad range of potential clinical phenotypes associated with Glut1 DS will facilitate earlier diagnosis of this treatable neurologic condition. The ketogenic diet is the mainstay of treatment and nourishes the starving symptomatic brain during development.

  12. AIDS Knowledge and Attitudes, Provisional Data from the National Health Interview Survey: United States, August 1987. Advance Data from Vital and Health Statistics. No. 146.

    ERIC Educational Resources Information Center

    Dawson, Deborah A.; And Others

    This document presents provisional data for all Acquired Immune Deficiency Syndrome (AIDS) questionnaire items from the National Health Interview Survey (NHIS) for August 1987. It notes that the AIDS questionnaire was designed to provide baseline estimates of public knowledge and attitudes about AIDS transmission, the prevention of AIDS virus…

  13. Loss of B cells and their precursors is the most constant feature of GATA-2 deficiency in childhood myelodysplastic syndrome

    PubMed Central

    Nováková, Michaela; Žaliová, Markéta; Suková, Martina; Wlodarski, Marcin; Janda, Aleš; Froňková, Eva; Campr, Vít; Lejhancová, Kateřina; Zapletal, Ondřej; Pospíšilová, Dagmar; Černá, Zdeňka; Kuhn, Tomáš; Švec, Peter; Pelková, Vendula; Zemanová, Zuzana; Kerndrup, Gitte; van den Heuvel-Eibrink, Marry; van der Velden, Vincent; Niemeyer, Charlotte; Kalina, Tomáš; Trka, Jan; Starý, Jan; Hrušák, Ondřej; Mejstříková, Ester

    2016-01-01

    GATA-2 deficiency was recently described as common cause of overlapping syndromes of immunodeficiency, lymphedema, familiar myelodysplastic syndrome or acute myeloid leukemia. The aim of our study was to analyze bone marrow and peripheral blood samples of children with myelodysplastic syndrome or aplastic anemia to define prevalence of the GATA2 mutation and to assess whether mutations in GATA-2 transcription factor exhibit specific immunophenotypic features. The prevalence of a GATA2 mutation in a consecutively diagnosed cohort of children was 14% in advanced forms of myelodysplastic syndrome (refractory anemia with excess blasts, refractory anemia with excess blasts in transformation, and myelodysplasia-related acute myeloid leukemia), 17% in refractory cytopenia of childhood, and 0% in aplastic anemia. In GATA-2-deficient cases, we found the most profound B-cell lymphopenia, including its progenitors in blood and bone marrow, which correlated with significantly diminished intronRSS-Kde recombination excision circles in comparison to other myelodysplastic syndrome/aplastic anemia cases. The other typical features of GATA-2 deficiency (monocytopenia and natural killer cell lymphopenia) were less discriminative. In conclusion, we suggest screening for GATA2 mutations in pediatric myelodysplastic syndrome, preferentially in patients with impaired B-cell homeostasis in bone marrow and peripheral blood (low number of progenitors, intronRSS-Kde recombination excision circles and naïve cells). PMID:27013649

  14. Findings from the Horizontes Acquired Immune Deficiency Syndrome Education project: the impact of indigenous outreach workers as change agents for injection drug users.

    PubMed

    Birkel, R C; Golaszewski, T; Koman, J J; Singh, B K; Catan, V; Souply, K

    1993-01-01

    A human immunodeficiency virus (HIV)/acquired immune deficiency syndrome (AIDS) intervention using indigenous outreach workers was implemented with Hispanic injection drug users (IDUs) and their sexual partners in three locations: Laredo, Texas; San Diego, California; and San Juan, Puerto Rico. A total of 2,169 subjects were contacted, given health education, HIV antibody testing, and follow-up counseling. This article reports on the 1,616 IDUs (75%) who completed the initial and follow-up interviews. The results indicated significant increases in health knowledge on AIDS, decreases in needle risk drug taking behaviors, some decreases in sex risk behaviors, and more realistic perceptions of personal AIDS risk. Using multivariate analyses, gender (male) and increasing age (older than age 25 years) were the strongest predictors of behavior change. Surprisingly, the identification of a positive HIV serostatus was not a significant predictor of behavior change. Although intended as a comparison study between contrasting levels of intervention, logistical and administrative problems undermined the use of a true quasi-experimental design. Nonetheless, the results from this research suggest that the use of indigenous outreach workers is an effective means of combatting the spread of HIV in this difficult to reach population. Some programmatic recommendations are provided for future efforts of this kind, particularly in relation to role conflicts experienced by outreach workers.

  15. The thymus in acquired immune deficiency syndrome. Comparison with other types of immunodeficiency diseases, and presence of components of human immunodeficiency virus type 1.

    PubMed Central

    Schuurman, H. J.; Krone, W. J.; Broekhuizen, R.; van Baarlen, J.; van Veen, P.; Golstein, A. L.; Huber, J.; Goudsmit, J.

    1989-01-01

    The authors studied thymus specimens taken at autopsy from eight acquired immune deficiency syndrome (AIDS) patients and compared these with those taken from four patients with congenital immunodeficiency (unrelated to an intrinsic thymus defect) and seven patients after allogeneic bone marrow transplantation. In all cases, histology showed a severely involuted architecture, compatible with a debilitating disease before death. There were no major differences between thymus tissue in AIDS patients and in the other patients studied. This argues against the claim expressed in the literature that the epithelial microenvironment incurs particular HIV-1-induced injury in AIDS. This conclusion is substantiated by immunohistochemistry for HIV-1 gag and env proteins, and by hybridohistochemistry for gag/pol and env mRNA of HIV-1. Positive cells were observed only in low numbers, both inside the epithelial parenchyma and in the (expanded) perivascular areas. An interesting finding was the labeling of subcapsular/medullary epithelium in normal uninvoluted thymus by a number of antibodies to HIV-1 gag p17 and p24 proteins. Compatible with this labeling was the staining of epithelial stalks in hyperinvoluted thymuses irrespective of disease category. The previously reported cross-reactivity between HIV-1 core protein and thymosin alpha 1 cannot fully explain this observation, because the epithelium in the hyperinvoluted state is negative for thymosin alpha 1. This study confirms and extends previous reports on the endogenous presence of epitopes of retroviral antigens in thymic epithelium. Images Figure 1 Figure 2 Figure 3 PMID:2474255

  16. An Interview with AIDS Vaccine Researcher Chris Parks

    ERIC Educational Resources Information Center

    Sullivan, Megan

    2010-01-01

    The search for an AIDS (acquired immune deficiency syndrome) vaccine is truly a global effort, with university laboratories, biotech firms, pharmaceutical companies, nonprofit research organizations, hospitals, and clinics all working together to develop an effective vaccine as quickly as possible. The International AIDS Vaccine Initiative (IAVI)…

  17. AIDS Awareness of High School Students: An Exploratory Study.

    ERIC Educational Resources Information Center

    McCoy, Leah P.; Calvin, Richmond E.

    The Surgeon General's information material on the Acquired Immune Deficiency Syndrome (AIDS), which was mailed to every household in the United States, was used to develop an AIDS Awareness Inventory. The inventory was designed for administration to 182 high school students enrolled in schools in three districts, which have adopted an AIDS…

  18. The Role of Nutrition in AIDS and Aging.

    ERIC Educational Resources Information Center

    Zumwalt, Sally A.; Schmidt, Robert M.

    1989-01-01

    Nutrition plays an important role in immunity both among the elderly and among persons with Acquired Immune Deficiency Syndrome (AIDS). Appropriate nutritional intake and counseling may improve immune status and enable both prevention and progression of AIDS and the susceptibility of the elderly to infectious diseases. (SK)

  19. Is AIDS a Biasing Factor in Teacher Judgment?

    ERIC Educational Resources Information Center

    Walker, David W.; Hulecki, Mary B.

    1989-01-01

    Regular-education, third-grade teachers (n=91) in Indiana reviewed one of two psychological reports, identical except that one reported a diagnosis of Acquired Immune Deficiency Syndrome (AIDS) and one reported a diagnosis of rheumatic fever. AIDS was not found to be a biasing factor in teachers' judgments regarding special education placement.…

  20. Sexually Active Students Found Failing to Take Precautions Against AIDS.

    ERIC Educational Resources Information Center

    Mangan, Katherine S.

    1988-01-01

    College officials are finding that after three years of efforts to educate college students about acquired immune deficiency syndrome (AIDS), many still don't think they are vulnerable and are not protecting themselves against the disease. More creative and personal AIDS education strategies are needed. (MSE)

  1. A "Second Generation" of Questions Hits AIDS-Education Programs.

    ERIC Educational Resources Information Center

    Biemiller, Lawrence

    1987-01-01

    Three years after the first efforts to teach college students about Acquired Immune Deficiency Syndrome (AIDS) began, established campus AIDS-education programs are grappling at increasingly sophisticated levels with old and new challenges, including homophobia, blood testing, women's role, and students' reluctance to admit they are putting…

  2. AIDS on Campus: A Medical and Legal Overview.

    ERIC Educational Resources Information Center

    McClain, Jackie R.; Matteoli, Tom E.

    1989-01-01

    Because an effective vaccine for Human Immunodeficiency Virus is unlikely to be available until late 1990s, higher education must focus on education programs to prevent spread of AIDS (Acquired Immune Deficiency Syndrome) and establish an HIV/AIDS policy before need arises. Legal counsel should review policies and procedures prior to their…

  3. Problems in Financing the Care of AIDS Patients.

    ERIC Educational Resources Information Center

    Ozawa, Martha N.; And Others

    1993-01-01

    Notes that financing care of patients with Acquired Immune Deficiency Syndrome (AIDS) has reached crisis proportions. Discusses how components of U.S. health care financing system attempt to minimize their financial exposure to AIDS. Presents remedies that have been suggested in literature. Points out flaws in current system for dealing with…

  4. AIDS: Is Any Risk Too Great? The 1987 Perspective.

    ERIC Educational Resources Information Center

    Hartog-Rapp, Fay

    This report discusses public school legal liability in the Acquired Immune Deficiency Syndrome (AIDS) controversy with regard to the right of privacy of AIDS victims who are students and employees and the concern of risk of contagion to other students and employees and the public's right to know what is going on in their schools. Several steps…

  5. Attitudes of Dental Hygiene Students toward Individuals with AIDS.

    ERIC Educational Resources Information Center

    Haring, Joen Iannucci; Lind, Laura J.

    1992-01-01

    At Ohio State University, 81 dental hygiene students' attitudes toward homosexual and heterosexual patients with acquired immune deficiency syndrome (AIDS) or leukemia were assessed using ratings of prejudice, social interaction, and interpersonal interaction. Negative bias toward individuals with AIDS and unwillingness to engage in everyday…

  6. Nurses' Attitudes toward Gay and Hemophiliac Patients with AIDS.

    ERIC Educational Resources Information Center

    Strasser, Judith A.; Damrosch, Shirley

    A sample of nurses (N=183) enrolled in a School of Nursing's master degree program was randomly assigned to read one of six vignettes about a patient who differed only in terms of diagnosis and lifestyle. Possible diagnoses were Acquired Immune Deficiency Syndrome (AIDS), AIDS acquired by a hemophiliac through blood therapy, and leukemia; possible…

  7. AIDS: Are Children at Risk? ERIC Digest 16.

    ERIC Educational Resources Information Center

    ERIC Clearinghouse on Teacher Education, Washington, DC.

    Lack of knowledge and misinformation about Acquired Immune Deficiency Syndrome (AIDS), a fatal disease with no cure or vaccine, has caused widespread public concern. Education is an effective way to reduce fears and prevent the spread of the disease. Public school personnel must have accurate information about AIDS in order to make suitable…

  8. The Impact of AIDS on the Black Community.

    ERIC Educational Resources Information Center

    Hatchett, David

    1990-01-01

    More than 25 percent of those who have the Acquired Immune Deficiency Syndrome (AIDS) virus are African American, and, in large urban areas, the disease is a leading cause of death, especially among black women. AIDS education is vital to supplement health care efforts in the black community. (SLD)

  9. Developing an AIDS Program in a Juvenile Detention Center.

    ERIC Educational Resources Information Center

    Gelber, Seymour

    1988-01-01

    Examines what is being done and what more must be done in terms of AIDS (Acquired Immune Deficiency Syndrome) testing, screening, counseling. Discusses education about AIDS for young people in juvenile detention centers, penal institutions, and residential rehabilitation programs. Dade County Juvenile Detention Center (Florida) exemplifies…

  10. Silent Casualties: Partners, Families, and Spouses of Persons with AIDS.

    ERIC Educational Resources Information Center

    Williams, R. Jane; Stafford, William B.

    1991-01-01

    Surveys the literature currently available on needs and support of partners, families, and spouses of persons with Acquired Immune Deficiency Syndrome (AIDS). Broad effects of the AIDS diagnosis are noted as well as unique effects on gay male partners, families of intravenous drug abusers, families giving in-home care to their persons with AIDS…

  11. Burnout in Hospital Social Workers Who Work with AIDS Patients.

    ERIC Educational Resources Information Center

    Oktay, Julianne S.

    1992-01-01

    Surveyed 128 hospital social workers who worked with Acquired Immune Deficiency Syndrome (AIDS) patients. Found that hospital AIDS social workers had slightly higher rates of emotional exhaustion and depersonalization on Maslach Burnout Inventory but also felt substantially higher level of personal accomplishment. Age, autonomy, and belonging to…

  12. AIDS Education through Schools: An Address by Mary H. Futrell.

    ERIC Educational Resources Information Center

    Futrell, Mary H.

    1988-01-01

    All school employees, including support staff, should receive preservice or inservice training about Acquired Immune Deficiency Syndrome (AIDS). It is important that urban minority children be alerted to the dangers of AIDS, and that all children be aware that prevention must begin before self-destructive behavior begins. (JD)

  13. Children and AIDS: A Need to Rethink Child Welfare Practice.

    ERIC Educational Resources Information Center

    Miller, Jaclyn; Carlton, Thomas O.

    1988-01-01

    Discusses the problems of children with Acquired Immune Deficiency Syndrome (AIDS). Questions whether society is prepared to respond to these children's needs. Asserts that the definitions of child abuse and neglect need to include the transmission of AIDS and that the foster care system will probably not be able to meet the needs of this…

  14. An Approach to Coping with Anxiety about AIDS.

    ERIC Educational Resources Information Center

    Krieger, Irwin

    1988-01-01

    Describes a stepwise counseling approach for assisting persons with heightened anxiety about Acquired Immune Deficiency Syndrome (AIDS) and ways to handle fears about the sexual transmission of AIDS. Five steps discussed include getting accurate information, assessing fear prior to exposure, learning to protect oneself and others, gathering peer…

  15. An Unforgiving Enemy: AIDS. Student Reader and Teacher's Guide.

    ERIC Educational Resources Information Center

    Adult Education Services, Johnstown, PA.

    These adult basic education instructional materials on the prevention of Acquired Immune Deficiency Syndrome (AIDS) include a student reader and a teacher's guide. The student reader contains six chapters. Chapter 1 introduces two characters--Ricco and Francis--and focuses on the definition of AIDS, the three stages of the disease, the cause, and…

  16. Evaluation of an AIDS Prevention Program for "At Risk" Parolees.

    ERIC Educational Resources Information Center

    Wexler, Harry K.; And Others

    Surveys of the nation's jail and prison populations suggest that about 75% have used illicit drugs at one time or another. Incidence rates for Acquired Immune Deficiency Syndrome (AIDS) cases among prison inmates is much higher in correctional systems than in the population as a whole. In this study an AIDS prevention and education program for…

  17. Knowledge, attitude, and perception of disease among persons living with human immunodeficiency virus/acquired immuno deficiency syndrome: A study from a tertiary care center in North India

    PubMed Central

    Gupta, Mrinal; Mahajan, Vikram K.; Chauahn, Pushpinder S.; Mehta, Karainder S.; Rawat, Ritu; Shiny, T. N.

    2016-01-01

    Background: Although modification of behavioral practices among human immunodeficiency virus (HIV)-affected patients is important in decreasing HIV disease transmission, the knowledge, attitude, and perception studies about HIV infection rarely include persons living with HIV/acquired immuno deficiency syndrome (AIDS). Aims: To assess knowledge, attitude, and perceptions of persons living with HIV/AIDS for the disease and other epidemiological aspects. Materials and Methods: One-hundred and fifty consecutive persons living with HIV/AIDS were enrolled for this questionnaire-based cross-sectional, descriptive study. Results: These 150 patients comprised 93 men and 57 women, aged between 14 and 78 (mean 37.13) years. The majority, 112 (74.67%) patients were between 20 and 50 years of age and 116 (77.3%) patients were either illiterate or high-school dropouts. Drivers, laborers, and self-employed comprised 69 (74.2%) patients among affected males. Only 129 (86%) respondents had heard about HIV/AIDS and knew about its heterosexual transmission. Ninety-eight (65.3%) respondents were aware of disease transmission from infected blood or needle pricks. Interestingly, 106 (70.7%) respondents were aware of the importance of using condom in preventing disease transmission. Television/radio was the most common sources of information for 135 (90%) patients. Nearly, 69% respondents disfavored disclosing their disease to friends/colleagues fearing stigmatization. Conclusions: Information, education, and communication activities are imperative to educate persons living with HIV/AIDS about life-long nature of the disease, modes of its transmission, and significance of preventive measures to bridge the gaps in their knowledge. While improvement in individual economic status, education, and health services remains highly desirable, mass media can play a pivotal role in creating awareness among masses. PMID:27890953

  18. Do-Not-Resuscitate Orders and/or Hospice Care, Psychological Health, and Quality of Life among Children/Adolescents with Acquired Immune Deficiency Syndrome

    PubMed Central

    Lyon, Maureen E.; Williams, Paige L.; Woods, Elizabeth R.; Hutton, Nancy; Butler, Anne M.; Sibinga, Erica; Brady, Michael T.; Oleske, James M.

    2009-01-01

    Objective The frequency of do-not-resuscitate (DNR) orders and hospice enrollment in children/adolescents living with acquired immune deficiency syndrome (AIDS) and followed in Pediatric AIDS Clinical Trials Group (PACTG) Study 219C was examined, and evaluated for any association with racial disparities or enhanced quality of life (QOL), particularly psychological adjustment. Methods A cross-sectional analysis of children with AIDS enrolled in this prospective multicenter observational study between 2000 and 2005 was conducted to evaluate the incidence of DNR/hospice overall and by calendar time. Linear regression models were used to compare caregivers' reported QOL scores within 6 domains between those with and without DNR/hospice care, adjusting for confounders. Results Seven hundred twenty-six (726) children with AIDS had a mean age of 12.9 years (standard deviation [SD] = 4.5), 51% were male, 60% black, 25% Hispanic. Twenty-one (2.9%) had either a DNR order (n = 16), hospice enrollment (n = 7), or both (n = 2). Of 41 children who died, 80% had no DNR/hospice care. Increased odds of DNR/hospice were observed for those with CD4% less than 15%, no current antiretroviral use, and prior hospitalization. No differences by race were detected. Adjusted mean QOL scores were significantly lower for those with DNR/hospice enrollment than those without across all domains except for psychological status and health care utilization. Poorer psychological status correlated with higher symptom distress, but not with DNR/hospice enrollment after adjusting for symptoms. Conclusions Children who died of AIDS rarely had DNR/hospice enrollment. National guidelines recommend that quality palliative care be integrated routinely with HIV care. Further research is needed to explore the barriers to palliative care and advance care planning in this population. PMID:18363489

  19. Serum Protein KNG1, APOC3, and PON1 as Potential Biomarkers for Yin-Deficiency-Heat Syndrome

    PubMed Central

    Liu, Changming; Mao, Liangen; Ping, Zepeng; Jiang, Tingting; Wang, Chong; Chen, Zhongliang; Li, Zhongjie

    2016-01-01

    Yin-deficiency-heat (YDH) syndrome is a concept in Traditional Chinese Medicine (TCM) for describing subhealth status. However, there are few efficient diagnostic methods available for confirming YDH syndrome. To explore the novel method for diagnosing YDH syndrome, we applied iTRAQ to observe the serum protein profiles in YDH syndrome rats and confirmed protein levels by ELISA. A total of 92 differentially expressed proteins (63 upregulated proteins and 29 downregulated proteins), which were mainly involved in complement and coagulation cascades and glucose metabolism pathway, were identified by the proteomic experiments. Kininogen 1 (KNG1) was significantly increased (p < 0.0001), while apolipoprotein C-III (APOC3, p < 0.005) and paraoxonase 1 (PON1, p < 0.001) were significantly decreased in the serum of YDH syndrome rats. The combination of KNG1, APOC3, and PON1 constituted a diagnostic model with 100.0% sensitivity and 85.0% specificity. The results indicated that KNG1, APOC3, and PON1 may act as potential biomarkers for diagnosing YDH syndrome. KNG1 may regulate cytokines and chemokines release in YDH syndrome, and the low levels of PON1 and APOC3 may increase oxidative stress and lipolysis in YDH syndrome, respectively. Our work provides a novel method for YDH syndrome diagnosis and also provides valuable experimental basis to understand the molecular mechanism of YDH syndrome. PMID:27843478

  20. Deficiency of interleukin-1-receptor antagonist syndrome: a rare auto-inflammatory condition that mimics multiple classic radiographic findings.

    PubMed

    Thacker, Paul G; Binkovitz, Larry A; Thomas, Kristen B

    2012-04-01

    Deficiency of interleukin-1-receptor antagonist (DIRA) syndrome is a newly identified inflammatory disease of the skeleton and appendicular soft tissues presenting in early infancy that has yet to be reported in the radiology literature. The radiological manifestations of DIRA syndrome include multifocal osteitis of the ribs and long bones, heterotopic ossification and periarticular soft-tissue swelling. Thus, the pediatric radiologist should be made aware of this novel disease because its radiographic findings can mimic multiple other disease entities. With knowledge of the unique clinical presentation of DIRA syndrome and its multiple radiographic manifestations, the pediatric radiologist may be the first to suggest the correct diagnosis.

  1. HIV-AIDS Information and the American Library Community: An Overview of Responses to the HIV-AIDS Health Crisis.

    ERIC Educational Resources Information Center

    Lukenbill, W. Bernard

    This paper presents an overview of how American libraries have responded to the health crisis caused by HIV (Human Immunodeficiency Virus) and AIDS (Acquired Immune Deficiency Syndrome). AIDS information dissemination practices of libraries and the social role which American librarians have articulated regarding their special responsibilities are…

  2. A survey of children affected by ectomermal dysplasia syndromes shows an increased prevalence of atopic disorders and immune deficiency

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Ectodermal dysplasia (ED) syndromes are rare genetic disorders that affect the development of tissues derived from the embryonic ectoderm. Studies and anecdotal experience have indicated that atopic disorders (AD) and immune deficiencies (ID) may be associated with ED in children. Some ED genotypes ...

  3. [The role of vitamin D deficiency in the etiology of polycystic ovary syndrome disorders].

    PubMed

    Brzozowska, Maria; Karowicz-Bilińska, Agata

    2013-06-01

    Vitamin D deficiency connected with insufficient production in the skin and limited alimentation delivery disrupts the function of all systems of the body and increases the risk of chronic diseases. Many studies have reported associations between low serum 25-hydroxyvitamin D [25(OH)D] level and symptoms of the polycystic ovary syndrome (PCOS) - insulin resistance, hirsutism, and infertility associated with both, ovulatory disorders and abnormal endometrial receptivity. The beneficial effects of vitamin D supplementation on insulin resistance, ovarian follicles maturation, ovulation and menstrual regularity were confirmed. Due to limited evidence, the additional randomized trials are required to establish the correct dose of vitamin D and confirm the effectiveness of vitamin D treatment in PCOS disorders. However; it seems evident that correct supplementation of vitamin D is beneficial in the management of women with PCOS and low 25(OH)D serum levels, and that it could be helpful in improving the effects of PCOS treatment.

  4. Diagnosis and treatment of GH deficiency in Prader-Willi syndrome.

    PubMed

    Grugni, Graziano; Marzullo, Paolo

    2016-12-01

    Prader-Willi syndrome (PWS) results from under-expression of the paternally-derived chromosomal region 15q11-13. Growth failure is a recognized feature of PWS, and both quantitative and qualitative defects of the GH/IGF-I axis revealing GH deficiency (GHD) have been demonstrated in most children with PWS. In PWS adults, criteria for GHD are biochemically fulfilled in 8-38% of the studied cohorts. Published data support benefits of early institution of GH therapy (GHT) in PWS children, with positive effects on statural growth, body composition, metabolic homeostasis, and neurocognitive function. Like in pediatric PWS, GHT also yields beneficial effects on lean and body fat, exercise capacity, and quality of life of PWS adults. Although GHT has been generally administered safely in PWS children and adults, careful surveillance of risks is mandatory during prolonged GH replacement for all PWS individuals.

  5. Acquired deficiency and urinary excretion of antithrombin III in nephrotic syndrome.

    PubMed

    Vaziri, N D; Paule, P; Toohey, J; Hung, E; Alikhani, S; Darwish, R; Pahl, M V

    1984-09-01

    The published data concerning changes of antithrombin III (ATIII) in nephrotic syndrome (NS) are contradictory. While increased ATIII activity has been reported by some investigators, decreased concentration has been shown by others and normal values by yet another group of authors. We determined plasma and urine concentrations of ATIII in a group of 20 patients with NS using an immunologic assay. In addition, plasma ATIII activity was determined. The results were compared with those obtained in a group of normal volunteers. Plasma concentration and activity of ATIII were both greatly reduced in the patients with NS. In addition, substantial quantities of ATIII were recovered in the urine of all tested patients. The present study, therefore, substantiates the low plasma concentrations of ATIII and its urinary losses in NS. In addition, a parallel reduction in plasma ATIII activity is demonstrated providing functional evidence of acquired ATIII deficiency in this condition.

  6. Effect of Testosterone Replacement Therapy on Cognitive Performance and Depression in Men with Testosterone Deficiency Syndrome

    PubMed Central

    Jung, Hyun Jin

    2016-01-01

    Purpose We aimed to evaluate the effect of testosterone replacement therapy (TRT) on cognitive function and depression in men with testosterone deficiency syndrome. Materials and Methods We carried out a prospective, placebo-controlled trial involving 106 men with total testosterone levels <3.3 ng/mL and symptoms of hypogonadism. Based on whether the patients received TRT (injection with 1,000 mg testosterone undecanoate) or a placebo (advice to modify lifestyle), the study population was divided into a TRT group (n=54) and a control group (n=52). Results The age among patients in the TRT and control groups was 56.7±12.6 years and 57.8±11.4 years, respectively (p> 0.05). At baseline, no significant differences between the TRT and control groups were noted regarding serum testosterone or prostate-specific antigen levels, or regarding the scores for aging symptoms (Aging Males' Symptoms scale), erectile function (5-item International Index of Erectile Function questionnaire), cognitive function (Korean Mini-Mental State Examination), and depression (Beck Depression Inventory). At 8 months after intervention total serum testosterone levels and erectile function scores had significantly increased (p<0.05), whereas the scores for aging symptoms and depression had significantly decreased (p<0.05) in the TRT group; no significant improvement in any parameters was noted for the control group. Notably, significant improvement in cognitive function was noted among patients with cognitive impairment at baseline (cognitive function score <25) who received TRT. Conclusions TRT may be considered in men with testosterone deficiency syndrome if low testosterone levels are associated with depression or cognitive impairment. PMID:28053949

  7. Growth hormone deficiency and central precocious puberty in Klinefelter syndrome: report of a case and review of KIGS database.

    PubMed

    Gonzales-Ellis, Bryn A; Pingul, Mia M; Reddy, Sujana; Boney, Charlotte M; Wajnrajch, Michael P; Quintos, Jose Bernarto

    2013-01-01

    Growth hormone deficiency (GHD) and central precocious puberty (CPP) have each, individually, been described in patients with Klinefelter syndrome. However, the combination of GHD, CPP, and Klinefelter syndrome has never been reported. We described a Klinefelter syndrome patient who developed GHD at age 2 10/12 years and CPP at 8 6/12 years. Despite CPP, GnRH agonist therapy was not initiated because of his excellent predicted adult height. At 11 8/12 years, his height was 164.6 cm, close to his mid-parental target height of 165 cm. We report an additional nine patients with Klinefelter syndrome and GHD from the Pfizer International Growth Study (KIGS) database, none of whom had CPP. We conclude that the combination of GHD and CPP is very rare in Klinefelter syndrome and that CPP is unlikely to compromise final adult height.

  8. Knowledge and attitude toward human immunodeficiency virus/acquired immuno deficiency syndrome among dental and medical undergraduate students

    PubMed Central

    Kumar, Vinod; Patil, Kavitha; Munoli, Karishma

    2015-01-01

    Background and Objectives: Human immunodeficiency virus (HIV) is a major public health challenge. Unjustified calls for the isolation of patients with HIV infection might further constrain the potential for expansion of clinical services to deal with a greater number of such patients. This infectious illness can evoke irrational emotions and fears in health care providers. Keeping this in view, a study was conducted to assess the knowledge and attitudes related to HIV/acquired immune deficiency syndrome (AIDS) among dental and medical students. Methodology: Descriptive cross-sectional survey of the entire dental and medical undergraduate students from two colleges was carried out using a pretested, self-administered questionnaire. Descriptive statistics such as percentage was used to present the data. Results: Ninety-eight percentage medical and dental undergraduate graduate students knew about HIV transmission in the hospital. Journals and internet were the leading source of information among both medical and dental undergraduates. The majority of respondents discussed HIV-related issues with their classmates. Surprisingly, 38% medical and 52% dental undergraduates think that HIV patient should be quarantined (isolation) to prevent the spread of infection. 68% medical and 60% dental undergraduates are willing to rendering dental/medical care to HIV-infected patients. Relatively large proportion (98%) of participants was willing to participate for HIV prevention program. Conclusion: The knowledge of medical and dental students is adequate, but the attitude needs improvement. Dental and medical students constitute a useful public health education resource. Comprehensive training, continuing education, and motivation will improve their knowledge and attitude, which enable them to provide better care to HIV patients. PMID:26538940

  9. Diabetes mellitus, exocrine pancreatic deficiency, hypertrichosis, hyperpigmentation, and chronic inflammation: confirmation of a syndrome.

    PubMed

    Hussain, Khalid; Padidela, Raja; Kapoor, Ritika R; James, Chela; Banerjee, Kausik; Harper, John; Wilson, Louise C; Hennekam, Raoul C M

    2009-05-01

    Type 1 diabetes mellitus is characterized by dysregulation of the immune system leading to inflammation and selective destruction of pancreatic beta cells. Mild to moderate pancreatic exocrine insufficiency is found in patients with type 1 diabetes. Diabetes mellitus may also be part of a syndrome occasionally involving hair and skin abnormalities. We report our observations on two siblings with insulin-dependent diabetes, severe exocrine pancreatic deficiency, pigmented hypertrichotic skin patches with induration and chronic inflammation. The first sibling presented at the age of 9 months with hypertrichosis and hyperpigmentation, particularly on her back and legs and then developed diabetes mellitus at the age of 4 yr. The second sibling presented with exactly the same clinical features but at a later age of 12 yr. Both siblings had severe pancreatic exocrine deficiency with chronic persistent inflammation. Some of the clinical features in these siblings resemble those described by Prendiville et al. although our patients had additional features. The chronic inflammatory response in both siblings is highly suggestive of some form of immune dysregulation. The presence of consanguinity in the parents and similarity of clinical features in the siblings are suggestive of a novel autoimmune disorder, possibly secondary to autosomal recessive inheritance.

  10. Fatal adult-onset antibody deficiency syndrome in a patient with cartilage hair hypoplasia.

    PubMed

    Horn, Julia; Schlesier, Michael; Warnatz, Klaus; Prasse, Antje; Superti-Furga, Andrea; Peter, Hans-Hartmut; Salzer, Ulrich

    2010-09-01

    Cartilage hair hypoplasia (CHH) is an autosomal recessive disorder caused by mutations in the ribonuclease mitochondrial RNA-processing (RMRP) gene. Although its most constant feature is metaphyseal dysplasia with short stature, CHH is associated with extraskeletal defects such as thin hair, anemia, immunodeficiency, and increased incidence of lymphomas. The spectrum of immunologic phenotypes in CHH translates into clinical severity. Whereas T-cell deficiency may remain subclinical or may result in severe combined immunodeficiency or Omenn syndrome, humoral immunodeficiency has only rarely been noted in these patients. Here we report the diagnosis of CHH in a woman who presented with severe short stature and a full-blown antibody deficiency, clinically resembling common variable immunodeficiency. Sequencing of the RMRP gene revealed compound heterozygosity for two novel mutations (g.68_69delinsTT and g.76C>T). Despite the late onset of immunodeficiency in the patient, its clinical course was severe, and the patient died 3 years after the first diagnosis.

  11. Why Cockayne syndrome patients do not get cancer despite their DNA repair deficiency

    PubMed Central

    Reid-Bayliss, Kate S.; Arron, Sarah T.; Loeb, Lawrence A.; Bezrookove, Vladimir; Cleaver, James E.

    2016-01-01

    Cockayne syndrome (CS) and xeroderma pigmentosum (XP) are human photosensitive diseases with mutations in the nucleotide excision repair (NER) pathway, which repairs DNA damage from UV exposure. CS is mutated in the transcription-coupled repair (TCR) branch of the NER pathway and exhibits developmental and neurological pathologies. The XP-C group of XP patients have mutations in the global genome repair (GGR) branch of the NER pathway and have a very high incidence of UV-induced skin cancer. Cultured cells from both diseases have similar sensitivity to UV-induced cytotoxicity, but CS patients have never been reported to develop cancer, although they often exhibit photosensitivity. Because cancers are associated with increased mutations, especially when initiated by DNA damage, we examined UV-induced mutagenesis in both XP-C and CS cells, using duplex sequencing for high-sensitivity mutation detection. Duplex sequencing detects rare mutagenic events, independent of selection and in multiple loci, enabling examination of all mutations rather than just those that confer major changes to a specific protein. We found telomerase-positive normal and CS-B cells had increased background mutation frequencies that decreased upon irradiation, purging the population of subclonal variants. Primary XP-C cells had increased UV-induced mutation frequencies compared with normal cells, consistent with their GGR deficiency. CS cells, in contrast, had normal levels of mutagenesis despite their TCR deficiency. The lack of elevated UV-induced mutagenesis in CS cells reveals that their TCR deficiency, although increasing cytotoxicity, is not mutagenic. Therefore the absence of cancer in CS patients results from the absence of UV-induced mutagenesis rather than from enhanced lethality. PMID:27543334

  12. [IRON-DEFICIENCY ANEMIA AS A FACTOR OF DEVELOPMENT OF ASTHENIA SYNDROME].

    PubMed

    Muldaeva, G; Rukaber, N; Arystan, L; Haydargalieva, L; Kenzhetaeva, Z

    2016-07-01

    The aim of this research was to determine the frequency and degree of severity of asthenic syndrome (AS) and estimation of physical health of women with iron-deficiency anemia (IDA) and without it. 30 women were inspected with the set diagnosis of IDA and 20 nearly were healthy. All participants were assessed according objective status. AS was determined by the scale of estimation of asthenia - Scale Asthenic Conditions (SAC) of LD Malkova, the scale of subjective evaluation of asthenia (MFI-20). Level of somatic health was appraised by methodology of LG Apanasenko. As a result of research it was found that in 100% of women with IDA , which more often occurs with expressed hypoxic syndrome, that aggravates a process of AS. The severity of AS directly depends on the degree of IDA. The presence of IDA contributes to decreased physical activity of patients because of progressive weakness and fatigue. The level of physical health is rated as "low" due to low reserve capacity of the cardiorespiratory system and power qualities. In the control group, incidence of AS is significantly lower (40-55%) and the degree of severity in most cases is weak and moderate. The obtained data allow to make the conclusion that the medicines for correction of AS must be necessarily included in therapy of IDA.

  13. Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.

    PubMed

    Basel-Vanagaite, Lina; Dallapiccola, Bruno; Ramirez-Solis, Ramiro; Segref, Alexandra; Thiele, Holger; Edwards, Andrew; Arends, Mark J; Miró, Xavier; White, Jacqueline K; Désir, Julie; Abramowicz, Marc; Dentici, Maria Lisa; Lepri, Francesca; Hofmann, Kay; Har-Zahav, Adi; Ryder, Edward; Karp, Natasha A; Estabel, Jeanne; Gerdin, Anna-Karin B; Podrini, Christine; Ingham, Neil J; Altmüller, Janine; Nürnberg, Gudrun; Frommolt, Peter; Abdelhak, Sonia; Pasmanik-Chor, Metsada; Konen, Osnat; Kelley, Richard I; Shohat, Mordechai; Nürnberg, Peter; Flint, Jonathan; Steel, Karen P; Hoppe, Thorsten; Kubisch, Christian; Adams, David J; Borck, Guntram

    2012-12-07

    Ubiquitination plays a crucial role in neurodevelopment as exemplified by Angelman syndrome, which is caused by genetic alterations of the ubiquitin ligase-encoding UBE3A gene. Although the function of UBE3A has been widely studied, little is known about its paralog UBE3B. By using exome and capillary sequencing, we here identify biallelic UBE3B mutations in four patients from three unrelated families presenting an autosomal-recessive blepharophimosis-ptosis-intellectual-disability syndrome characterized by developmental delay, growth retardation with a small head circumference, facial dysmorphisms, and low cholesterol levels. UBE3B encodes an uncharacterized E3 ubiquitin ligase. The identified UBE3B variants include one frameshift and two splice-site mutations as well as a missense substitution affecting the highly conserved HECT domain. Disruption of mouse Ube3b leads to reduced viability and recapitulates key aspects of the human disorder, such as reduced weight and brain size and a downregulation of cholesterol synthesis. We establish that the probable Caenorhabditis elegans ortholog of UBE3B, oxi-1, functions in the ubiquitin/proteasome system in vivo and is especially required under oxidative stress conditions. Our data reveal the pleiotropic effects of UBE3B deficiency and reinforce the physiological importance of ubiquitination in neuronal development and function in mammals.

  14. What Is HIV/AIDS?

    MedlinePlus

    ... Subscribe Translate Text Size Print What Is HIV/AIDS? Human Immunodeficiency Virus (HIV) HIV stands for human ... use the HIV Testing & Care Services Locator. GO Acquired Immunodeficiency Syndrome (AIDS) AIDS stands for acquired immunodeficiency syndrome. AIDS ...

  15. Properdin deficiency associated with recurrent otitis media and pneumonia, and identification of male carrier with Klinefelter syndrome.

    PubMed

    Schejbel, Lone; Rosenfeldt, Vibeke; Marquart, Hanne; Valerius, Niels Henrik; Garred, Peter

    2009-06-01

    Properdin is an initiator and stabilizer of the alternative complement activation pathway (AP). Deficiency of properdin is a rare X-linked condition characterized by increased susceptibility to infection with Neisseria meningitidis associated with a high mortality rate. We report properdin deficiency in a large Pakistani family. The index cases were found by screening for immunodeficiency due to a history of recurrent infections. This revealed absent AP activity, but normal classical and lectin pathway activity. Sequencing of the properdin gene (PFC) revealed a novel frameshift mutation. When all available relatives (n=24) were screened for the mutation, four affected males, four female carriers and a male heterozygous carrier were identified. He was subsequently diagnosed with Klinefelter syndrome. A questionnaire revealed a striking association between properdin deficiency and recurrent otitis media (P=0.0012), as well as recurrent pneumonia (P=0.0017). This study is the first to show a significant association between properdin deficiency and recurrent infections.

  16. The acquired immune deficiency syndrome: an overview for the emergency physician, Part 2.

    PubMed

    Guss, D A

    1994-01-01

    Human immunodeficiency virus (HIV) affects all organ systems. Infection of the heart can manifest with evidence of myocarditis, pericarditis, or cardiomyopathy. The most common gastrointestinal symptom is diarrhea, which can result from infection with a variety of bacterial, fungal, or protozoal organisms. In about 15% of cases, no pathogen is recognized and the diarrhea syndrome is termed AIDS enteropathy. Any portion of the alimentary tract can be affected as well as the liver, gallbladder, and pancreas. Cryptosporidium, a previously infrequent cause of human illness, has emerged as an important pathogen in the HIV-infected patient and is responsible for chronic diarrhea, cholecystitis, and biliary tract obstruction. Evidence of neurologic involvement is present in more than 80% of patients at the time of autopsy. Cryptococcal meningitis, toxoplasma encephalitis, and neurosyphilis are the most often encountered central nervous system infections. While all three are responsive to therapy, treatment must be prolonged or persist for the duration of the patient's life to avoid recurrence. Peripheral nervous system manifestations include myelopathy, myopathy, and a variety of peripheral neuropathies. Retinal infection with cytomegalovirus (CMV) and toxoplasma can lead to irreversible loss of vision. Cotton wool spots are a common benign physical finding that must be differentiated from the early signs of CMV or toxoplasma infection. Management of the HIV-infected patient, while most often conducted by specialists in Internal Medicine or Infectious Diseases, is often an issue for the emergency physician. Many of the commonly afforded therapies are reviewed. Part 1 of this two-part series discussed the pathophysiology and clinical expression, epidemiology, laboratory testing, and the general clinical manifestations of AIDS, as well as dermatologic, pulmonary, and cardiac symptoms. Part 2 discusses the gastrointestinal, neurologic, and ocular symptoms, as well as the

  17. Conocimiento de Transmision de SIDA y Percepcion Hacia los Ninos con SIDA en el Salon de Clases de los Maestros de Educacion Especial (Knowledge of AIDS Transmission and Special Education Teachers' Attitudes towards Children with AIDS in the Classroom).

    ERIC Educational Resources Information Center

    Lopez de Williams, Milka

    This Spanish-language master's thesis presents a study which measured special education teachers' knowledge of AIDS (Acquired Immune Deficiency Syndrome) virus transmission and their attitudes toward children with AIDS in schools. Attitudes were then related to social variables such as sex, teacher's age, and knowing someone with AIDS. A survey of…

  18. Vitamin D deficiency is common and associated with metabolic risk factors in patients with polycystic ovary syndrome.

    PubMed

    Li, Hang Wun Raymond; Brereton, Rebecca E; Anderson, Richard A; Wallace, A Michael; Ho, Clement K M

    2011-10-01

    Both vitamin D deficiency and polycystic ovary syndrome (PCOS) are associated with aspects of metabolic syndrome, but it is unclear whether vitamin D deficiency contributes to the metabolic disturbances commonly found in women with PCOS. This study sought to investigate (1) the prevalence of vitamin D deficiency in PCOS women in Scotland and (2) the relationship between vitamin D status and metabolic risk factors. This was an observational study on 52 women (25 in PCOS group and 27 in control group). Serum 25-hydroxyvitamin D concentrations less than 25 nmol/L were classified as severe vitamin D deficiency and were found in 44.0% and 11.2% of subjects in the PCOS and control groups, respectively (P = .047). Among the PCOS subjects, 25-hydroxyvitamin D concentrations were negatively correlated with body mass index (P = .033), C-reactive protein (P = .027), and free androgen index (P = .025) and positively correlated with quantitative insulin sensitivity check index (P = .035), high-density lipoprotein cholesterol (HDL-C) (P = .033), and sex hormone binding globulin (P = .038). Associations of vitamin D deficiency with quantitative insulin sensitivity check index and HDL-C were independent of body mass index and waist-to-hip ratio. Vitamin D deficiency is highly prevalent in PCOS women in Scotland, and a larger proportion of PCOS patients than control women were found to be vitamin D deficient. We also demonstrate correlations of vitamin D status with insulin sensitivity, HDL-C, and C-reactive protein in PCOS patients, which support the increasing evidence that vitamin D deficiency is associated with multiple metabolic risk factors in PCOS women.

  19. Assessment of the 21-hydroxylase deficiency and the adrenal functions in young females with Turner syndrome.

    PubMed

    Onder, Asan; Aycan, Zehra; Cetinkaya, Semra; Kendirci, Havva Nur Peltek; Bas, Veysel Nijat; Agladioglu, Sebahat Yilmaz

    2012-01-01

    There are few reports of an association between Turner syndrome (TS) and 21-hydroxylase deficiency. However, this association is more frequent in some populations. The aim of this study was to evaluate the incidence of 21-hydroxylase deficiency in patients with TS in our population. 21-hydroxylase deficiency was evaluated in 44 TS cases with 45X (n=20) and 24 mosaic cases. A standard dose adrenocorticotropic (ACTH) stimulation test (Synacthen, Novartis, Basel, Switzerland) was performed, and 17 hydroxyprogesterone (17OHP), dehydroepiandrosterone sulfate (DHEAS) and cortisol responses were evaluated. Patients with increased 17OHP responses in the stimulation test also underwent 21-hydroxylase gene analysis. The mean age was 14.6 +/- 4 (2.6-22.4); 37 patients were on growth hormone (GH) treatment. Nine patients were at prepubertal stage, whereas 35 were pubertal (24 on gonadal steroids and 11 spontaneously). Six patients were obese. Only one of our patients had a level of 7.5 ng/mL of 17OHP, and there was no mutation found in congenital adrenal hyperplasia (CAH) genetic analysis. In other cases, peak 17OHP levels were < or = 6 ng/mL. The mean peak 17OHP was 2.62 +/- 1.48 (1.19-7.5) ng/mL, the cortisol level was 37.6 +/- 8.43 (23.9-56.2) microg/dL and the DHEAS was 135.2+/- 87.3 (15-413) microg/dL. The increased mean basal and peak cortisol levels (20.5 +/- 10.2 and 37.6 +/- 8.4 microg/dL) were remarkable findings. Whereas basal cortisol was above 20 microg/dL in 38.7% of patients, exaggerated results up to 56.2 microg/dL were obtained in peak cortisol levels. The basal and peak 17OHP cortisol levels were not correlated with the presence of puberty, chromosome structure, gonadal steroid use, obesity or growth hormone use. This trial suggested that 21-hydroxylase deficiency was not common among patients with TS in our population. Adrenal function should be assessed, at least in the presence of clitoral enlargement in patients with TS, particularly if their karyotype

  20. Influence of the home environment on the prevention of mother to child transmission of human immunodeficiency virus/acquired immune-deficiency syndrome in South Africa.

    PubMed

    Sewnunan, A; Modiba, L M

    2015-01-01

    The human immunodeficiency virus and acquired immune-deficiency syndrome (HIV/AIDS) is still a 'family crises' which marks the beginning of the deterioration of the family unit and the trauma in the emotional, psychological and material lives of both the mother and child. In South African context where the majority of HIV-positive mothers are young single women who live in extended families, disclosure to the sexual partner alone is not an adequate condition for the success of prevention of mother to child transmission (PMTCT). In South Africa, close to one in three women who attend antenatal clinics are HIV positive. KwaZulu-Natal is one of the worst affected provinces, where as many as 40-60% of pregnant women attending antenatal services are living with HIV infection. The study sought to investigate the link between the home environment and its contribution to the success of the programme on PMTCT of HIV/AIDS. A qualitative, explorative, descriptive and contextual study was used in this study to explore whether the home environment for the support system is available for the HIV-positive women on the PMTCT programme. The population of this study included all women who have undergone counselling and tested HIV positive and who have joined the programme on PMTCT of HIV/AIDS in a specific hospital in KwaZulu-Natal Province. Although 14 women agreed to participate in the study, only 10 women were interviewed as saturation was attained. Data were collected using semi-structured interview schedule. Interviews were audio-taped and field notes were taken. Content analysis was used and it was done manually. This study revealed that one of the major issues still surrounding HIV/AIDS and PMTCT is that of non-disclosure, selective disclosure and the stigma and discrimination that surrounds this disease.

  1. Optometric Education's Challenge: AIDS in the Curriculum.

    ERIC Educational Resources Information Center

    Wilson, Roger J.

    1988-01-01

    A national survey of schools of optometry suggests that acquired immune deficiency syndrome (AIDS) needs to be more thoroughly addressed in some curricula. Suggestions are made for curriculum development in the areas of public health, basic coursework, immunology, clinical medicine, psychology, ocular manifestations, and contact lenses. (MSE)

  2. Which of These Teens Has AIDS?

    ERIC Educational Resources Information Center

    Sanchez, Ellen

    This curriculum focuses on: (1) increasing adolescent students' knowledge of Acquired Immune Deficiency Syndrome (AIDS) and the Human Immunodeficiency Virus (HIV); (2) increasing students' knowledge of prevention of HIV infection; (3) developing students' skills in recognizing risk behaviors; (4) developing students' skills in responsible decision…

  3. Counseling in the Era of AIDS.

    ERIC Educational Resources Information Center

    Dworkin, Sari H.; Pincu, Lester

    1993-01-01

    Describes counselor's role in era of Acquired Immune Deficiency Syndrome (AIDS); psychological reactions to chronic, stigmatized, and fatal illness; and specific populations (gay men, their families and friends, gay youth, significant others, people of color, heterosexual women and lesbians, college students, substance abusers, "worried…

  4. Evaluation of HIV/AIDS Education Program.

    ERIC Educational Resources Information Center

    Keeton, Kato B.

    1998-01-01

    A study assessed effectiveness of Human Immunodeficiency Virus/Acquired Immune Deficiency Syndrome (HIV/AIDS) education courses required in Florida of persons engaged in professions requiring licensure. Results indicate few differences in knowledge or attitudes before and after the course. In general, course participants had good knowledge of…

  5. Taking Care of Young Children with AIDS.

    ERIC Educational Resources Information Center

    Federlein, Anne Cairns

    This booklet provides an overview of the Acquired Immune Deficiency Syndrome (AIDS) and guidelines for child care administrators and caregivers. It is argued that reason must overcome fear about the spread of the human immunodeficiency virus (HIV) in early childhood centers. Discussion addresses such questions as: (1) Can child caregivers get AIDS…

  6. Liability for Failure To Provide AIDS Training.

    ERIC Educational Resources Information Center

    Smith, Michael R.

    1990-01-01

    The U.S. Constitution guarantees a right to privacy that requires deputies and jailers to avoid the unnecessary disclosure of sensitive information about a person. This privacy right especially covers Acquired Immune Deficiency Syndrome-related (AIDS) information, and it even protects the immediate family of persons infected with human…

  7. AIDS: A Catholic Educational Approach. Teacher's Manual.

    ERIC Educational Resources Information Center

    National Catholic Educational Association, Washington, DC.

    This curriculum guide responds to the need for Acquired Immune Deficiency Syndrome (AIDS) information that is correct, developmentally appropriate, culturally sensitive, and morally consistent with Gospel values. The intended uses are described to be in Catholic schools and catechetical programs. A section providing orientation for teachers and…

  8. Psychotherapy with AIDS Patients: Countertransference Issues.

    ERIC Educational Resources Information Center

    Wilk, Carole A.

    This paper provides a personal account of the process of psychotherapy for Acquired Immune Deficiency Syndrome (AIDS) patients, as seen from both the client's and the psychotherapist's perspective, with a focus on countertransference issues found in the early phases of treatment. Based on case material, the discussion explores themes presented by…

  9. Disaccharidase deficiency.

    PubMed

    Bayless, T M; Christopher, N L

    1969-02-01

    This review of the literature and current knowledge concerning a nutritional disorder of disaccharidase deficiency discusses the following topics: 1) a description of disorders of disaccharide digestion; 2) some historical perspective on the laboratory and bedside advances in the past 10 years that have helped define a group of these digestive disorders; 3) a classification of conditions causing disaccharide intolerance; and 4) a discussion of some of the specific clinical syndromes emphasizing nutritional consequences of these syndromes. The syndromes described include congenital lactase deficiency, acquired lactase deficiency in teenagers and adults, acquired generalized disaccharidase deficiency secondary to diffuse mucosal damage, acquired lactose intolerance secondary to alterations in the intestinal transit, sucrase-isomaltase deficiencies, and other disease associations connected with lactase deficiency such as colitis.

  10. Intestinal microsporidiosis in a Chilean patient with acquired immunodeficiency syndrome (AIDS).

    PubMed

    Oddó, D; Chuaqui, R; Hoffmann, E; Garcia, M

    1993-03-01

    A 24-year-old male patient with AIDS diagnosed in 1989, and with several episodes of pneumocystosis, was admitted because of a chronic diarrheic syndrome and severe epigastric pain. Endoscopy showed a granular duodenal mucosa. Light microscopy showed a moderate villous atrophy with round-cell inflammatory infiltration of the chorion. Giemsa, Ziehl-Neelsen, and Gram stains showed microsporidial spores measuring between 1.5 and 2 microns in the supranuclear cytoplasm of some enterocytes. Electron microscopy showed sporoblasts and spores consistent with Enterocytozoon bieneusi, with an apparently non-tubular, rather electron-dense polar filament showing up to 7 coils and also a microtubular internal structure with annular disposition, a finding which has not been adequately emphasized in the pertinent literature, probably representing a contractile property of the polar filament, rather than a mere duct for the parasitic sporoplasm to be inoculated.

  11. Effect of traditional Chinese medicine for treating human immunodeficiency virus infections and acquired immune deficiency syndrome: Boosting immune and alleviating symptoms.

    PubMed

    Zou, Wen; Wang, Jian; Liu, Ying

    2016-01-01

    To respond to the human immunodeficiency virus (HIV)/acquired immune deficiency syndrome (AIDS) epidemic in China, the integration of antiretroviral therapy (ART) and traditional Chinese medicine (TCM) has important implications in health outcomes, especially in China where the use of TCM is widespread. The National Free TCM Pilot Program for HIV Infected People began in 5 provinces (Henan, Hebei, Anhui, Hubei, and Guangdong) in 2004, and quickly scaled up to 19 provinces, autonomous regions, and municipalities in China including some places with high prevalence, 26,276 adults have been treated thus far. Usually, people with HIV infection seek TCM for four main reasons: to enhance immune function, to treat symptoms, to improve quality of life, and to reduce side effects related to medications. Evidences from randomized controlled clinical trials suggested some beneficial effects of use of traditional Chinese herbal medicine for HIV infections and AIDS. More proofs from large, well-designed, rigorous trials is needed to give firm support. Challenges include interaction between herbs and antiretroviral drugs, stigma and discrimination. The Free TCM Program has made considerable progress in providing the necessary alternative care and treatment for HIV-infected people in China, and has strong government support for continued improvement and expansion, establishing and improving a work mechanism integrating Chinese and Western medicines.

  12. Soluble suppressor factors in patients with acquired immune deficiency syndrome and its prodrome. Elaboration in vitro by T lymphocyte-adherent cell interactions.

    PubMed Central

    Laurence, J; Gottlieb, A B; Kunkel, H G

    1983-01-01

    Supernatants from peripheral blood mononuclear cells obtained from certain patients with the acquired immune deficiency syndrome (AIDS) or its prodrome were capable of depressing spontaneous and pokeweed mitogen-driven B lymphocyte differentiation into plasmacytes, and the proliferative responses of T cells to specific antigen. These soluble suppressor factors (SSF) were present in uniquely high concentrations, with significant differences from healthy controls and from patients with various other conditions previously associated with factor-mediated immunosuppression. T cell-independent functions were not modified by SSF. Suppression was not genetically constrained, and did not appear to be mediated by cytotoxicity, prostaglandin, or alpha or gamma interferons. SSF was a product of the interaction of T lymphocytes with adherent cells. T cells or T cell factors from AIDS patients, but not from normal controls, could collaborate with control adherent cells in the formation of SSF. Restoration of DNA synthesis-independent differentiation of B lymphocytes into plasmacytes in SSF-treated cultures was realized by addition of reducing agents, such as 2-mercaptoethanol, on culture initiation. These data suggest inhibitory mechanisms possibly related to that of concanavalin A-induced soluble immune response suppression, and perhaps offer clues to clinically applicable substances which are potentially capable of mitigating such responses. PMID:6605980

  13. Sclerostin inhibition reverses skeletal fragility in an Lrp5-deficient mouse model of OPPG syndrome.

    PubMed

    Kedlaya, Rajendra; Veera, Shreya; Horan, Daniel J; Moss, Rachel E; Ayturk, Ugur M; Jacobsen, Christina M; Bowen, Margot E; Paszty, Chris; Warman, Matthew L; Robling, Alexander G

    2013-11-13

    Osteoporosis pseudoglioma syndrome (OPPG) is a rare genetic disease that produces debilitating effects in the skeleton. OPPG is caused by mutations in LRP5, a WNT co-receptor that mediates osteoblast activity. WNT signaling through LRP5, and also through the closely related receptor LRP6, is inhibited by the protein sclerostin (SOST). It is unclear whether OPPG patients might benefit from the anabolic action of sclerostin neutralization therapy (an approach currently being pursued in clinical trials for postmenopausal osteoporosis) in light of their LRP5 deficiency and consequent osteoblast impairment. To assess whether loss of sclerostin is anabolic in OPPG, we measured bone properties in a mouse model of OPPG (Lrp5(-/-)), a mouse model of sclerosteosis (Sost(-/-)), and in mice with both genes knocked out (Lrp5(-/-);Sost(-/-)). Lrp5(-/-);Sost(-/-) mice have larger, denser, and stronger bones than do Lrp5(-/-) mice, indicating that SOST deficiency can improve bone properties via pathways that do not require LRP5. Next, we determined whether the anabolic effects of sclerostin depletion in Lrp5(-/-) mice are retained in adult mice by treating 17-week-old Lrp5(-/-) mice with a sclerostin antibody for 3 weeks. Lrp5(+/+) and Lrp5(-/-) mice each exhibited osteoanabolic responses to antibody therapy, as indicated by increased bone mineral density, content, and formation rates. Collectively, our data show that inhibiting sclerostin can improve bone mass whether LRP5 is present or not. In the absence of LRP5, the anabolic effects of SOST depletion can occur via other receptors (such as LRP4/6). Regardless of the mechanism, our results suggest that humans with OPPG might benefit from sclerostin neutralization therapies.

  14. Spinal cord injury-induced immune deficiency syndrome enhances infection susceptibility dependent on lesion level.

    PubMed

    Brommer, Benedikt; Engel, Odilo; Kopp, Marcel A; Watzlawick, Ralf; Müller, Susanne; Prüss, Harald; Chen, Yuying; DeVivo, Michael J; Finkenstaedt, Felix W; Dirnagl, Ulrich; Liebscher, Thomas; Meisel, Andreas; Schwab, Jan M

    2016-03-01

    Pneumonia is the leading cause of death after acute spinal cord injury and is associated with poor neurological outcome. In contrast to the current understanding, attributing enhanced infection susceptibility solely to the patient's environment and motor dysfunction, we investigate whether a secondary functional neurogenic immune deficiency (spinal cord injury-induced immune deficiency syndrome, SCI-IDS) may account for the enhanced infection susceptibility. We applied a clinically relevant model of experimental induced pneumonia to investigate whether the systemic SCI-IDS is functional sufficient to cause pneumonia dependent on spinal cord injury lesion level and investigated whether findings are mirrored in a large prospective cohort study after human spinal cord injury. In a mouse model of inducible pneumonia, high thoracic lesions that interrupt sympathetic innervation to major immune organs, but not low thoracic lesions, significantly increased bacterial load in lungs. The ability to clear the bacterial load from the lung remained preserved in sham animals. Propagated immune susceptibility depended on injury of central pre-ganglionic but not peripheral postganglionic sympathetic innervation to the spleen. Thoracic spinal cord injury level was confirmed as an independent increased risk factor of pneumonia in patients after motor complete spinal cord injury (odds ratio = 1.35, P < 0.001) independently from mechanical ventilation and preserved sensory function by multiple regression analysis. We present evidence that spinal cord injury directly causes increased risk for bacterial infection in mice as well as in patients. Besides obvious motor and sensory paralysis, spinal cord injury also induces a functional SCI-IDS ('immune paralysis'), sufficient to propagate clinically relevant infection in an injury level dependent manner.

  15. Spinal cord injury-induced immune deficiency syndrome enhances infection susceptibility dependent on lesion level

    PubMed Central

    Brommer, Benedikt; Engel, Odilo; Kopp, Marcel A.; Watzlawick, Ralf; Müller, Susanne; Prüss, Harald; Chen, Yuying; DeVivo, Michael J.; Finkenstaedt, Felix W.; Dirnagl, Ulrich; Liebscher, Thomas; Meisel, Andreas

    2016-01-01

    Pneumonia is the leading cause of death after acute spinal cord injury and is associated with poor neurological outcome. In contrast to the current understanding, attributing enhanced infection susceptibility solely to the patient’s environment and motor dysfunction, we investigate whether a secondary functional neurogenic immune deficiency (spinal cord injury-induced immune deficiency syndrome, SCI-IDS) may account for the enhanced infection susceptibility. We applied a clinically relevant model of experimental induced pneumonia to investigate whether the systemic SCI-IDS is functional sufficient to cause pneumonia dependent on spinal cord injury lesion level and investigated whether findings are mirrored in a large prospective cohort study after human spinal cord injury. In a mouse model of inducible pneumonia, high thoracic lesions that interrupt sympathetic innervation to major immune organs, but not low thoracic lesions, significantly increased bacterial load in lungs. The ability to clear the bacterial load from the lung remained preserved in sham animals. Propagated immune susceptibility depended on injury of central pre-ganglionic but not peripheral postganglionic sympathetic innervation to the spleen. Thoracic spinal cord injury level was confirmed as an independent increased risk factor of pneumonia in patients after motor complete spinal cord injury (odds ratio = 1.35, P < 0.001) independently from mechanical ventilation and preserved sensory function by multiple regression analysis. We present evidence that spinal cord injury directly causes increased risk for bacterial infection in mice as well as in patients. Besides obvious motor and sensory paralysis, spinal cord injury also induces a functional SCI-IDS (‘immune paralysis’), sufficient to propagate clinically relevant infection in an injury level dependent manner. PMID:26754788

  16. Roundtable for the Development of Drugs and Vaccines Against Acquired Immuno Deficiency Syndrome (AIDS).

    DTIC Science & Technology

    1991-05-01

    effectiveness of the therapy as prophylaxis for Pneumocystis carini pneumonia . San Francisco investigators presented a formal abstract describing...who had a history of cytologically confirmed Pneumocystis carinii pneumonia (PCP) or an absolute CD4 lymphocyte count of less than 200 per cubic...Jacobson, P. A. Voiberding, D. Abrams, and the San Francisco County Community Consortium, "Aerosolized pentamidine for prophylaxis against Pneumocystis

  17. Roundtable for the Development of Drugs and Vaccines Against Acquired Immune Deficiency Syndrome (AIDS)

    DTIC Science & Technology

    1994-05-06

    President. Addiction Research and Treatment Corporation, Brooklyn, New York DONALD S. BURKE, Colonel, Medical Corps. U.S. Army. and Director...Stephen Carter. Harold Edgar, and Martin Delaney. ŘD. Dranove and D. Meltzer . "Do Important Drugs Reach the Market Sooner"." R.I.) .ournal of Economics

  18. Reduced secreted mu mRNA synthesis in selective IgM deficiency of Bloom's syndrome.

    PubMed Central

    Kondo, N; Ozawa, T; Kato, Y; Motoyoshi, F; Kasahara, K; Kameyama, T; Orii, T

    1992-01-01

    Serum IgM concentrations were low although serum IgG and IgA concentrations were normal in both our patients with Bloom's syndrome. Although the percentages of surface IgM-bearing cells were not reduced, the numbers of IgM-secreting cells were markedly reduced. The membrane-bound mu (microns) and secreted mu (microseconds) mRNAs are produced from transcripts of a single immunoglobulin mu gene by alternative RNA processing pathways. The control of microseconds mRNA synthesis depends on the addition of poly(A) to microseconds C-terminal segment. In both patients, mu mRNA was well detected but microseconds C-terminal mRNA was scarcely detected, suggesting that microns mRNA was well transcribed but microseconds mRNA was not. There was, at least, no mutation or deletion in the microseconds C-terminal coding sequence, the RNA splice site (GG/TAAAC) at the 5' end of microseconds C-terminal segment and the AATAAA poly(A) signal sequence in both patients. Our results suggest that selective IgM deficiency in Bloom's syndrome is due to an abnormality in the maturation of surface IgM-bearing B cells into IgM-secreting cells and a failure of microseconds mRNA synthesis. Moreover, reduced microseconds mRNA synthesis may be due to the defect on developmental regulation of the site at which poly(A) is added to transcripts of the mu gene. Images Fig. 2 PMID:1563106

  19. Can we find a solution to the human immunodeficiency virus/acquired immune deficiency syndrome controversy? Is acquired immune deficiency syndrome the consequence of continuous excessive stressing of the body?

    PubMed

    Hässig, A; Wen-Xi, L; Stampfli, K

    1996-04-01

    The time of re-evaluation of the role of human immunodeficiency viruses in the pathogenesis of acquired immune deficiency syndrome has now come, now that methods are available for the direct detection of human immunodeficiency viruses and for the detection of cellular anti-human immunodeficiency virus immune reactions. It has been shown that human immunodeficiency virus infections are common among anti-human immunodeficiency virus antibody negative high-risk individuals. The disease is brought under control by cellular immune reactions and the anti-human immunodeficiency virus antibody test remains negative. Apart from proof that infection with human immunodeficiency viruses has occurred, a positive result in an anti-human immunodeficiency virus-antibody test is also an indication of an independent immunosuppression state. According to the definition of the Centers of Disease Control classical acquired immune deficiency syndrome is the consequence of infection with human immunodeficiency virus in association with continuous excessive stress, such as observed in the known risk groups. At the center of the pathogenetic process is hypercortisolism-determined damage of T lymphocytes, in which insufficiency of thymus is prominent. For this reason, in our view, there are indications for shifting efforts from the prophylaxis of infection with human immunodeficiency viruses to the prophylaxis of acquired immune deficiency syndrome by reducing stress factors.

  20. Blue rubber bleb naevus syndrome: a rare cause of chronic occult blood loss and iron deficiency anaemia.

    PubMed

    Lybecker, Martin Bell; Stawowy, Marek; Clausen, Niels

    2016-12-20

    Blue rubber bleb naevus syndrome (BRBNS) is a rare vascular disorder with malformed veins, or blebs, appearing in the skin or internal organs. Gastrointestinal tract involvement is the most common feature and often subject to bleeding, potentially resulting in chronic occult blood loss and iron deficiency anaemia. We present the case of a 10-year-old boy with venous malformations on the feet and severe anaemia. Although massive sudden haemorrhage rarely occurs, awareness of the illness is necessary to prevent complications.

  1. Recurrent gastrointestinal perforation in a patient with Ehlers-Danlos syndrome due to tenascin-X deficiency.

    PubMed

    Sakiyama, Tomo; Kubo, Akiharu; Sasaki, Takashi; Yamada, Taketo; Yabe, Nobushige; Matsumoto, Ken-ichi; Futei, Yuko

    2015-05-01

    Ehlers-Danlos syndrome (EDS) is a clinically and genetically heterogeneous disorder. Using a customized targeted exome-sequencing system we identified nonsense mutations in TNXB in a patient who had recurrent gastrointestinal perforation due to tissue fragility. This case highlights the utility of targeted exome sequencing for the diagnosis of congenital diseases showing genetic heterogeneity, and the importance of attention to gastrointestinal perforation in patients with tenascin-X deficient type EDS.

  2. Occurrence of GLUT1 deficiency syndrome in patients treated with ketogenic diet.

    PubMed

    Ramm-Pettersen, Anette; Nakken, Karl O; Haavardsholm, Kathrine Cammermeyer; Selmer, Kaja Kristine

    2014-03-01

    Glucose transporter 1 deficiency syndrome (GLUT1-DS) is a treatable metabolic encephalopathy caused by a mutation in the SLC2A1 gene. This mutation causes a compromised transport of glucose across the blood-brain barrier. The treatment of choice is ketogenic diet, with which most patients become seizure-free. At the National Centre for Epilepsy, we have, since 2005, offered treatment with ketogenic diet (KD) and modified Atkins diet (MAD) to children with difficult-to-treat epilepsy. As we believe many children with GLUT1-DS are unrecognized, the aim of this study was to search for patients with GLUT1-DS among those who had been responders (>50% reduction in seizure frequency) to KD or MAD. Of the 130 children included, 58 (44%) were defined as responders. Among these, 11 were already diagnosed with GLUT1-DS. No mutations in the SLC2A1 gene were detected in the remaining patients. However, the clinical features of these patients differed considerably from the patients diagnosed with GLUT1-DS. While 9 out of 10 patients with GLUT1-DS became seizure-free with dietary treatment, only 3 out of the 33 remaining patients were seizure-free with KD or MAD treatment. We therefore conclude that a seizure reduction of >50% following dietary treatment is not a suitable criterion for identifying patients with GLUT1-DS, as these patients generally achieve complete seizure freedom shortly after diet initiation.

  3. Genetic Addiction Risk Score (GARS): molecular neurogenetic evidence for predisposition to Reward Deficiency Syndrome (RDS).

    PubMed

    Blum, Kenneth; Oscar-Berman, Marlene; Demetrovics, Zsolt; Barh, Debmalya; Gold, Mark S

    2014-12-01

    We have published extensively on the neurogenetics of brain reward systems with reference to the genes related to dopaminergic function in particular. In 1996, we coined "Reward Deficiency Syndrome" (RDS), to portray behaviors found to have gene-based association with hypodopaminergic function. RDS as a useful concept has been embraced in many subsequent studies, to increase our understanding of Substance Use Disorder (SUD), addictions, and other obsessive, compulsive, and impulsive behaviors. Interestingly, albeit others, in one published study, we were able to describe lifetime RDS behaviors in a recovering addict (17 years sober) blindly by assessing resultant Genetic Addiction Risk Score (GARS™) data only. We hypothesize that genetic testing at an early age may be an effective preventive strategy to reduce or eliminate pathological substance and behavioral seeking activity. Here, we consider a select number of genes, their polymorphisms, and associated risks for RDS whereby, utilizing GWAS, there is evidence for convergence to reward candidate genes. The evidence presented serves as a plausible brain-print providing relevant genetic information that will reinforce targeted therapies, to improve recovery and prevent relapse on an individualized basis. The primary driver of RDS is a hypodopaminergic trait (genes) as well as epigenetic states (methylation and deacetylation on chromatin structure). We now have entered a new era in addiction medicine that embraces the neuroscience of addiction and RDS as a pathological condition in brain reward circuitry that calls for appropriate evidence-based therapy and early genetic diagnosis and that requires further intensive investigation.

  4. Postural orthostatic tachycardia syndrome is associated with platelet storage pool deficiency.

    PubMed

    Gunning, William T; Karabin, Beverly L; Blomquist, Thomas M; Grubb, Blair P

    2016-09-01

    Mechanisms have been postulated to explain postural orthostatic tachycardia syndrome (POTS), however, the etiology of this often debilitating disorder remains unknown. We conducted a retrospective case-control study of 181 POTS patients who exhibited/reported bleeding symptoms for a specific platelet (PL) dysfunction disorder, delta granule storage pool deficiency (δ-SPD).Patients were included only if results of blood tests for δ-SPD were available. Electron microscopy was utilized to diagnose δ-SPD. An ELISA assay was used to determine serotonin (5HT) concentration in PLs and medical record review was employed to collect patients' clinical symptoms.The most common bleeding symptom was easy bruising (71%) but frequent nose bleeds, heavy menstrual bleeding, and a family history of bleeding were also commonly reported. Of the patients studied, 81% were diagnosed with δ-SPD. Our investigation of 5HT concentration extracted from PLs revealed significantly lower levels of 5HT in POTS patients when compared to that of control subjects. Our data suggest that patients with POTS have significant comorbidities including bleeding symptoms and/or family bleeding histories, and have diminished PL 5HT levels supporting the hypothesis that POTS is a low 5HT level disorder. While we describe a significant relationship with POTS and δ-SPD, this finding does not constitute an etiology for POTS.Our results establish an additional comorbidity frequently seen in POTS that could explain a number of disparate symptoms often affecting the severity of POTS.

  5. Human immunodeficiency virus/acquired immune deficiency syndrome: Using drug from mathematical perceptive.

    PubMed

    Chatterjee, Amar Nath; Saha, Shubhankar; Roy, Priti Kumar

    2015-11-12

    Entry of acquired immune deficiency syndrome virus into the host immune cell involves the participation of various components of host and viral cell unit. These components may be categorized as attachment of the viral surface envelope protein subunit, gp120, to the CD4(+) receptor and chemokine coreceptors, CCR5 and CXCR4, present on T cell surface. The viral fusion protein, gp41, the second cleaved subunit of Env undergoes reconfiguration and the membrane fusion reaction itself. Since the CD4(+) T cell population is actively involved; the ultimate outcome of human immunodeficiency virus infection is total collapse of the host immune system. Mathematical modeling of the stages in viral membrane protein-host cell receptor-coreceptor interaction and the effect of antibody vaccine on the viral entry into the susceptible host cell has been carried out using as impulsive differential equations. We have studied the effect of antibody vaccination and determined analytically the threshold value of drug dosage and dosing interval for optimum levels of infection. We have also investigated the effect of perfect adherence of drug dose on the immune cell count in extreme cases and observed that systematic drug dosage of the immune cells leads to longer and improved lives.

  6. A Critical Appraisal of Growth Hormone Therapy in Growth Hormone Deficiency and Turner Syndrome Patients in Turkey

    PubMed Central

    Yavaş Abalı, Zehra; Darendeliler, Feyza; Neyzi, Olcay

    2016-01-01

    Early detection of abnormal growth, identification of the underlying cause, and appropriate treatment of the medical condition is an important issue for children with short stature. Growth hormone (GH) therapy is widely used in GH-deficient children and also in non-GH-deficient short stature cases who have findings conforming to certain indications. Efficacy of GH therapy has been shown in a multitude of short- and long-term studies. Age at onset of GH therapy is the most important factor for a successful treatment outcome. Optimal dosing is also essential. The aim of this review was to focus on challenges in the early diagnosis and appropriate management of short stature due to GH deficiency (GHD) and Turner syndrome. These are the most frequent two indications for GH therapy in Turkey approved by the Ministry of Health for coverage by the national insurance system. PMID:27354120

  7. The Incorporation of HIV/AIDS Into Identity Over Time: Transformational Tales Continued.

    ERIC Educational Resources Information Center

    Baumgartner, Lisa M.

    The incorporation of human immune deficiency virus/acquired immune deficiency syndrome (HIV/AIDS) into identity over time was examined by collecting data from the same 11 HIV-positive individuals at 3 points in time (in 1995, early 1998, and late 1999). By the time of their semi-structured interviews in late 1999, the seven men and four women…

  8. Kinetic compartmental analysis of carnitine metabolism in the human carnitine deficiency syndromes. Evidence for alterations in tissue carnitine transport

    SciTech Connect

    Rebouche, C.J.; Engel, A.G.

    1984-03-01

    The human primary carnitine deficiency syndromes are potentially fatal disorders affecting children and adults. The molecular etiologies of these syndromes have not been determined. In this investigation, we considered the hypothesis that these syndromes result from defective transport of carnitine into tissues, particularly skeletal muscle. The problem was approached by mathematical modeling, by using the technique of kinetic compartmental analysis. A tracer dose of L-(methyl-3H)carnitine was administered intravenously to six normal subjects, one patient with primary muscle carnitine deficiency (MCD), and four patients with primary systemic carnitine deficiency (SCD). Specific radioactivity was followed in plasma for 28 d. A three-compartment model (extracellular fluid, muscle, and ''other tissues'') was adopted. Rate constants, fluxes, pool sizes, and turnover times were calculated. Results of these calculations indicated reduced transport of carnitine into muscle in both forms of primary carnitine deficiency. However, in SCD, the reduced rate of carnitine transport was attributed to reduced plasma carnitine concentration. In MCD, the results are consistent with an intrinsic defect in the transport process. Abnormal fluctuations of the plasma carnitine, but of a different form, occurred in MCD and SCD. The significance of these are unclear, but in SCD they suggest abnormal regulation of the muscle/plasma carnitine concentration gradient. In 8 of 11 subjects, carnitine excretion was less than dietary carnitine intake. Carnitine excretion rates calculated by kinetic compartmental analysis were higher than corresponding rates measured directly, indicating degradation of carnitine. However, we found no radioactive metabolites of L-(methyl-3H)carnitine in urine. These observations suggest that dietary carnitine was metabolized in the gastrointestinal tract.

  9. The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families

    PubMed Central

    Tuppen, Helen A. L.; Hogan, Vanessa E.; He, Langping; Blakely, Emma L.; Worgan, Lisa; Al-Dosary, Mazhor; Saretzki, Gabriele; Alston, Charlotte L.; Morris, Andrew A.; Clarke, Michael; Jones, Simon; Devlin, Anita M.; Mansour, Sahar; Chrzanowska-Lightowlers, Zofia M. A.; Thorburn, David R.; McFarland, Robert

    2010-01-01

    Isolated complex I deficiency is the most frequently observed oxidative phosphorylation defect in children with mitochondrial disease, leading to a diverse range of clinical presentations, including Leigh syndrome. For most patients the genetic cause of the biochemical defect remains unknown due to incomplete understanding of the complex I assembly process. Nonetheless, a plethora of pathogenic mutations have been described to date in the seven mitochondrial-encoded subunits of complex I as well as in 12 of the nuclear-encoded subunits and in six assembly factors. Whilst several mitochondrial DNA mutations are recurrent, the majority of these mutations are reported in single families. We have sequenced core structural and functional nuclear-encoded subunits of complex I in a cohort of 34 paediatric patients with isolated complex I deficiency, identifying pathogenic mutations in 6 patients. These included a novel homozygous NDUFS1 mutation in an Asian child with Leigh syndrome, a previously identified NDUFS8 mutation (c.236C>T, p.P79L) in a second Asian child with Leigh-like syndrome and six novel, compound heterozygous NDUFS2 mutations in four white Caucasian patients with Leigh or Leigh-like syndrome. Three of these children harboured an identical NDUFS2 mutation (c.875T>C, p.M292T), which was also identified in conjunction with a novel NDUFS2 splice site mutation (c.866+4A>G) in a fourth Caucasian child who presented to a different diagnostic centre, with microsatellite and single nucleotide polymorphism analyses indicating that this was due to an ancient common founder event. Our results confirm that NDUFS2 is a mutational hotspot in Caucasian children with isolated complex I deficiency and recommend the routine diagnostic investigation of this gene in patients with Leigh or Leigh-like phenotypes. PMID:20819849

  10. Suicide Inhibitors of Reverse Transcriptase in the Therapy of AIDS and Other Retroviruses

    DTIC Science & Technology

    1989-07-01

    Acquired Immun Deficiency Syndrome (AIDS) (7-8). The most recent evaluation of the AIDS epidemic in the U.S. (4) indicates that the currer total of...are shown below. One of the first, [N-(L-3-tran carboxyxiran-2-carbonyl)-L-leucyl]-amido (4-guanido) butane was isolated from Asperg /II japonicus and...risk of acquired immune deficiency syndrome (AIDS). Science. 2.4: 497- 500 (1983). 9. Kopkrowski H., De Freitas E.C., Harper M.E., Woliheim S.M

  11. Recombinase Activating Gene 1 Deficiencies Without Omenn Syndrome May Also Present With Eosinophilia and Bone Marrow Fibrosis

    PubMed Central

    Ulusoy, Ezgi; Karaca, Neslihan Edeer; Azarsiz, Elif; Berdeli, Afig; Aksu, Guzide; Kutukculer, Necil

    2016-01-01

    Background Severe combined immunodeficiency (SCID) syndromes are a heterogenous group of diseases characterized by impairment in both cellular and humoral immunity with a range of genetic disorders. Complete recombinase activating gene (RAG) deficiency is associated with classical T-B-NK+ SCID which is the most common phenotype of Turkish SCID patients. There is a broad spectrum of hypomorfic RAG mutations including Omenn syndrome, leaky or atypical SCID with expansion of γδ T cells, autoimmunity and cytomegalovirus (CMV) infections. Methods Twenty-one (44%) patients had RAG1 deficiency of all 44 SCID patients followed up by pediatric immunology department. A retrospective analysis was conducted on the medical records of all SCID patients with RAG1 deficiency. Results Eight patients were classified as T-B-NK+ SCID, five patients as T+B-NK+ SCID (three of these were Omenn phenotype), and eight patients as T+B+NK+ SCID phenotype. Mean age of the whole study group, mean age at onset of symptoms and mean age at diagnosis were 87.7 ± 73.8 (12 - 256), 4.4 ± 8.2 (1 - 36) and 29.1 ± 56.8 (1 - 244) months, respectively. Consanguinity was present in 11 (52%) of 21 patients. Autoimmunity was found in six patients (28%). Ten patients (47%) had CMV infection, four (19%) had Epstein-Barr virus (EBV) infections and three (14%) had Bacillus Calmette-Guerin (BCG) infections. Seven patients who had refractory cytopenia (two pancytopenia and five bicytopenia) underwent bone marrow biopsy, three of whom had bone marrow fibrosis. Future evaluations must be considered about bone marrow fibrosis in RAG1 deficiency patients. Eosinophilia was observed in 10 patients, seven of whom did not have Omenn phenotype. Conclusion Non-Omenn phenotype RAG1 deficiencies can also present with eosinophilia. This report is presented to emphasize that RAG1 mutations may lead to diverse clinical phenotypes. PMID:27081423

  12. Risk assessment of obstructive sleep apnea syndrome in pediatric patients with vitamin D deficiency

    PubMed Central

    Ozgurhan, Gamze; Vehapoglu, Aysel; Vermezoglu, Oznur; Temiz, Rabia Nur; Guney, Asuman; Hacihamdioglu, Bulent

    2016-01-01

    Abstract The aim of the following study is to evaluate the risk of obstructive sleep apnea syndrome (OSAS) in subjects with vitamin D deficiency. Prospective and comparative study. We enrolled 240 subjects into the study. The participants were divided into 2 groups based on 25-hydroxyvitamin D (25[OH]D) levels: low level of 25(OH)D (<20 ng/mL) group (n = 120) and control (>20 ng/mL) group (n = 120). Subjects were classified as being at a high or low risk of developing OSAS by using the Berlin Questionnaire. Risk of developing OSAS, gender, age, and body mass index (BMI) z-score were assessed by comparing the low level of 25(OH)D group and control group. No statistically significant difference was observed between the low level of 25(OH)D group and control group in terms of gender, age, and BMI z-score distributions; P = 0.323, P = 0.387, and P = 0.093, respectively. There were 24 subjects with high risk of developing OSAS in 2 groups (17 subjects in the low level of 25[OH]D group and 7 subjects in the control group). In the low level of 25(OH)D group, the risk of developing OSAS was found to be significantly higher than the control group (P = 0.030). BMI z-score was found significantly higher in high-risk groups than low-risk groups (P = 0.034 for low-level 25[OH]D group and P = 0.023 for control group). The findings revealed that low level of 25(OH)D increases the risk of developing OSAS. PMID:27684795

  13. Reducing incapacitating symptoms during space flight: is postural deficiency syndrome an applicable model?

    PubMed

    Souvestre, P A; Landrock, C K; Blaber, A P

    2008-08-01

    Severe and prolonged unmitigated SAS and SMS related symptoms have been thoroughly described in Astronauts during adaptation periods for orbital flight and post orbital flight. It has recently been shown that there is a strong correlation between these symptoms most often suffered by astronauts to that of the symptoms of patients suffering from Postural Deficiency Syndrome (PDS) on Earth that have been successfully assessed, diagnosed and treated. International peer-reviewed literature identifies PDS as a trauma induced medical condition which originates from central neural dysregulation of sensory-motor and cognitive controls; these dysfunctions can be accurately identified, measured, and monitored via a specific ocular-vestibular-postural monitoring system along with relevant clinical data. This higher level of understanding is necessary in order to reach the next stage of success for humans living and working in Space. Central sensory-motor and cognitive controls dysfunction underlie symptoms that can adversely impact and reflect alteration of eye-hand coordination, fine tuned dexterity, body positioning in space, space projection and trajectory control, perception of environment/obstacles, orientation in space and time, sensory motor and cognitive aspects of decision making, sensory-motor/cognitive error proneness. All of these factors are necessary for Astronaut's mission capabilities, while both carrying out operations in Space and performing the tasks required during and after re-entry. The objective of this paper is to elucidate how PDS related medical conditions are currently assessed, identified and monitored, and how these methodologies and technologies translate into a potential for better understanding of astronauts' potential incapacitation during space flight operations.

  14. Glucose transporter type 1 deficiency syndrome (Glut1DS): methylxanthines potentiate GLUT1 haploinsufficiency in vitro.

    PubMed

    Ho, Y Y; Yang, H; Klepper, J; Fischbarg, J; Wang, D; De Vivo, D C

    2001-08-01

    Methylxanthines such as caffeine and theophylline are known to inhibit glucose transport. We have studied such inhibition in the glucose transporter type 1 deficiency syndrome (Glut1DS) by erythrocyte glucose transport assays. Data from four patients with individual mutations in the GLUT1 gene are discussed: patient 1 (hemizygosity), 3 (S66F), 15 (368Ins23), and 17 (R333W). Zero-trans influx of (14)C-labeled 3-O-methyl glucose (3-OMG) into erythrocytes of patients is reduced (patient 1, 51%; 3, 45%; 15, 31%; 17, 52%) compared with maternal controls. Inhibition studies on patients 1, 3, 17, and maternal controls show an IC(50) for caffeine of approximately 1.5 mM both in controls (n = 3) and patients (n = 3) at 5 mM 3-OMG concentration. In the same two groups, kinetic studies show that 3 mM caffeine significantly decreases V(max) (p < 0.005), whereas the decrease in K(m) is significant (p < 0.01) only in the three controls and one patient (patient 3). Kinetic data from individual patients permit us to speculate that the interactions between caffeine and Glut1 are influenced by the mutation. Three mM caffeine also inhibits the transport of dehydroascorbic acid (DHA), another substrate for Glut1. The combined effects of caffeine (3 mM) and phenobarbital (10 mM) on glucose transport, as determined in patient 15 and the maternal control, show no additive or synergistic inhibition. These data indicate that caffeine and phenobarbital have similar Glut1 inhibitory properties in these two subjects. Our study suggests that Glut1DS patients may have a reduced safety margin for methylxanthines. Consumption of methylxanthine-containing products may aggravate the neurologic symptoms associated with the Glut1DS.

  15. Older Americans and AIDS: Transmission Risks and Primary Prevention Research Needs.

    ERIC Educational Resources Information Center

    Catania, Joseph A.; And Others

    1989-01-01

    Growing number of Acquired Immune Deficiency Syndrome (AIDS) cases among older Americans is of increasing concern. In context of primary prevention, reviews findings that bear on modes of human immunodeficiency virus (HIV) transmission (blood transfusions, sexual) among older individuals and knowledge of magnitude of the AIDS problem represented…

  16. Response by High Risk Groups to HIV/AIDS Educational Outreach: A Focus Group Report.

    ERIC Educational Resources Information Center

    Smiley, Nina Feldman

    Twelve focus groups were conducted to determine how various at-risk groups would respond to Human Immunodeficiency Virus/Acquired Immune Deficiency Syndrome (HIV/AIDS) educational outreach approaches presented via print (posters and comic book), television, and radio media. Knowledge, attitudes, and practices regarding HIV and AIDS were also…

  17. Panel Calls for More University Research in National Effort to Stop spread of AIDS.

    ERIC Educational Resources Information Center

    Wheeler, David L.

    1986-01-01

    An interagency committee recommends more university and industry involvement in efforts to stop the spread of acquired immune deficiency syndrome (AIDS) and find a cure, and encourages increased federal funding and assurances that funding will be ongoing for both basic biological and AIDS research. (MSE)

  18. A Student-Health Doctor Grapples with Campus' Fears about AIDS.

    ERIC Educational Resources Information Center

    Biemiller, Lawrence

    1988-01-01

    Although Acquired Immune Deficiency Syndrome (AIDS) is a relatively simple medical problem, it is complicated by fear, ignorance, and uncertainty. Many colleges have a much bigger problem with fear than with the virus itself. Information dissemination through college AIDS-education programs is a major challenge. (MSE)

  19. HIV and AIDS among Adolescents in the United States: Increasing Risk in the 1990s.

    ERIC Educational Resources Information Center

    Bowler, Suzanne; And Others

    1992-01-01

    Examines recent data on Acquired Immune Deficiency Syndrome (AIDS) surveillance and human immunodeficiency virus (HIV) seroprevalence; surveys on teenagers' knowledge, beliefs, and behaviors related to HIV/AIDS; key treatment issues; and barriers to prevention to review the problem and propose possible ways of combating it. Notes that data suggest…

  20. "It Can't Happen to Me!": True Stories about AIDS.

    ERIC Educational Resources Information Center

    Knowles, Jon

    This brochure presents facts and information about Acquired Immune Deficiency Syndrome (AIDS) for teenagers and young people. A story tracing the sexual activities and exposure to AIDS of a group of teenagers is presented, interspersed with objective information about one's chances of getting the human immunodeficiency virus (HIV), how one…

  1. The Facts about AIDS. A Special NEA "Higher Education Advocate" Report.

    ERIC Educational Resources Information Center

    Wechsler, Harold, Ed.

    1987-01-01

    Information about Acquired Immune Deficiency Syndrome (AIDS) is presented to alert National Education Association educators to behaviors that place people at risk for AIDS. The material was prepared by the Public Health Service. Topics include: sexual transmission, transmission from injected blood, transmission during pregnancy, groups at greatest…

  2. Extenuating Circumstances in Perceptions of Suicide: Disease Diagnosis (AIDS, Cancer), Pain Level, and Life Expectancy.

    ERIC Educational Resources Information Center

    Martin, Stephen K.; Range, Lillian M.

    1991-01-01

    Examined whether illness type, pain level, and life expectancy affected reactions of undergraduates (n=160) toward a terminal illness suicide with Acquired Immune Deficiency Syndrome (AIDS) or cancer. AIDS patients were more stigmatized than cancer patients; suicide was more tolerated if victim was suffering greater pain. (Author/ABL)

  3. AIDS and Child Care: A Booklet for Child Care Workers, Management Committees and Parents.

    ERIC Educational Resources Information Center

    Fricke, Caroline; Glasson, Mark

    This booklet provides Australians with basic information about the Acquired Immune Deficiency Syndrome (AIDS). Contents cover the definiton of AIDS, ways the disease is transmitted, Human Immunodeficiency Virus (HIV) antibody testing for adults and children, variations among children infected with HIV, information that HIV is not transmitted…

  4. Lazarus and Group Psychotherapy: AIDS in the Era of Protease Inhibitors

    ERIC Educational Resources Information Center

    Gushue, George V.; Brazaitis, Sarah J.

    2003-01-01

    A new class of medications, protease inhibitors, has dramatically improved the health of many people with Human Immunodeficiency Virus (HIV) and Acquired Immune Deficiency Syndrome (AIDS). This development has had a major impact on the lives of those affected by HIV/AIDS. This article considers how a group is affected by the larger systems of…

  5. Assessing Employee Attitudes in a Community-Based AIDS Service Organization.

    ERIC Educational Resources Information Center

    Liou, Kuotsai Tom; Cruise, Peter L.

    1994-01-01

    Thirty-one employees of the Comprehensive Acquired Immune Deficiency Syndrome (AIDS) Program of Palm Beach County (Florida) were surveyed to explore their motives and attitudes toward their jobs, clients, and the organization. Implications for management of AIDS service organizations and program quality are discussed. (SLD)

  6. Willingness of Health-Professions Students to Treat Patients with AIDS.

    ERIC Educational Resources Information Center

    Currey, Charles J.; And Others

    1990-01-01

    This 1988-89 survey of 319 students in the medical, dental, nursing, and allied health-care professions revealed that over one-third had reservations about treating AIDS (Acquired Immune Deficiency Syndrome) patients. Unwillingness to treat AIDS patients was strongly associated with homophobic attitudes. Education should emphasize methods for the…

  7. Toward an Understanding of (EM)Power(Ment) for HIV/AIDS Prevention with Adolescent Women.

    ERIC Educational Resources Information Center

    Gutierrez, Lorraine; Oh, Hyun Joo; Gillmore, Mary Rogers

    Preventing the spread of Acquired Immune Deficiency Syndrome (AIDS) among women is a national priority. In the United States, AIDS is the sixth leading cause of death among young adult women, and their rate of infection is four times higher than men. This article was developed to help stimulate interest in the power dynamics of relationships and…

  8. AIDS in South Africa: Therapeutic Interventions to Strengthen Resilience among Orphans and Vulnerable Children

    ERIC Educational Resources Information Center

    Heath, Melissa Allen; Donald, David R.; Theron, Linda C.; Lyon, Rachel Crook

    2014-01-01

    Worldwide, approximately 10% of the 34.2 million individuals infected by human immunodeficiency virus/acquired immune deficiency syndrome (HIV/AIDS) are under the age of 18. Additionally, 17.8 million children have experienced one or both parents dying of HIV/AIDS. In comparison to other countries, South Africa has the highest per capita of…

  9. Experiencing an Epidemic: The Development of an AIDS Education Program for Community College Students in Maryland.

    ERIC Educational Resources Information Center

    Rochlin, Joyce T.

    In 1991, a project was undertaken to suggest components for an Acquired Immune Deficiency Syndrome (AIDS) education program for community college students. The project sought to identify AIDS programs and policies in place at the 17 community colleges in Maryland; assessed community college students' knowledge about the spread and prevention of…

  10. Safe Sex and Dangerous Poems: AIDS, Literature and the Gay and Lesbian Community College Student.

    ERIC Educational Resources Information Center

    Engler, Robert Klein

    Some of the denial and fear that accompanies homosexuality and the Acquired Immune Deficiency Syndrome (AIDS) can be dealt with by discussing the following three issues: the AIDS epidemic, the problems of gay and lesbian community college students, and finally, the teaching of literature--especially poetry. Exploring both poetry and the AIDS…

  11. Female Secondary School Adolescents' Sexual Behavior and School Based HIV/AIDS Education Program

    ERIC Educational Resources Information Center

    Inyang, Mfrekemfon P.

    2013-01-01

    Most adolescents engage in indiscriminate sexual experimentations. This practice exposes them to the risk of contracting sexually transmitted infections including HIV/AIDS. Human immunodeficiency virus (HIV) and acquired immune deficiency syndromes (AIDS) are among the deadly diseases that exist globally. Twice as many girls, compared to boys…

  12. Getting the Word Out: A Practical Guide to AIDS Materials Development.

    ERIC Educational Resources Information Center

    Matiella, Ana Consuelo, Ed.

    This book provides health professionals with a "how to" approach to developing culturally sensitive and effective Acquired Immune Deficiency Syndrome (AIDS) education materials. It is a collection of chapters written by community AIDS educators who have specialized knowledge and skill in developing educational materials in multi-ethnic…

  13. Talking about AIDS in Hong Kong: Cultural Models in Public Health Discourse.

    ERIC Educational Resources Information Center

    Jones, Rodney H.

    A study explored the issues of cultural identity and interaction in public health discourse concerning Acquired Immune Deficiency Syndrome (AIDS) in Hong Kong's multilingual, multicultural social context. Twenty public service announcements (PSAs) concerning AIDS awareness televised in both English and Cantonese in Hong Kong from 1987 to 1994 were…

  14. An Annotated Bibliography about AIDS for Educators of the Life Sciences.

    ERIC Educational Resources Information Center

    Person, Mark A.

    This study was conducted to identify information about Acquired Immune Deficiency Syndrome (AIDS) that educators should know to effectively teach about the disease in the classroom. The references identified were divided into seven major categories: (1) current scientific research concerned with the virus that causes AIDS; (2) the effects of the…

  15. Who Are the "Innocent Victims?" Using NEXIS To Track the "New York Times'" Coverage of AIDS.

    ERIC Educational Resources Information Center

    Siegel, Paul

    A study measured attitudes towards Acquired Immune Deficiency Syndrome (AIDS) victims by providing a qualitative content analysis of newspaper coverage of the epidemic. A search of the NEXIS database was conducted to identify every "New York Times" article on the subject of AIDS in which the word "innocent" appears. Results…

  16. Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.

    PubMed

    Matthijs, G; Schollen, E; Van Schaftingen, E; Cassiman, J J; Jaeken, J

    1998-03-01

    Carbohydrate-deficient-glycoprotein syndrome type 1 (CDG1; also known as "Jaeken syndrome") is an autosomal recessive disorder characterized by defective glycosylation. Most patients show a deficiency of phosphomannomutase (PMM), the enzyme that converts mannose 6-phosphate to mannose 1-phosphate in the synthesis of GDP-mannose. The disease is linked to chromosome 16p13, and mutations have recently been identified in the PMM2 gene in CDG1 patients with a PMM deficiency (CDG1A). The availability of the genomic sequences of PMM2 allowed us to screen for mutations in 56 CDG1 patients from different geographic origins. By SSCP analysis and by sequencing, we identified 23 different missense mutations and 1 single-base-pair deletion. In total, mutations were found on 99% of the disease chromosomes in CDG1A patients. The R141H substitution is present on 43 of the 112 disease alleles. However, this mutation was never observed in the homozygous state, suggesting that homozygosity for these alterations is incompatible with life. On the other hand, patients were found homozygous for the D65Y and F119L mutations, which must therefore be mild mutations. One particular genotype, R141H/D188G, which is prevalent in Belgium and the Netherlands, is associated with a severe phenotype and a high mortality. Apart from this, there is only a limited relation between the genotype and the clinical phenotype.

  17. Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.

    PubMed Central

    Matthijs, G; Schollen, E; Van Schaftingen, E; Cassiman, J J; Jaeken, J

    1998-01-01

    Carbohydrate-deficient-glycoprotein syndrome type 1 (CDG1; also known as "Jaeken syndrome") is an autosomal recessive disorder characterized by defective glycosylation. Most patients show a deficiency of phosphomannomutase (PMM), the enzyme that converts mannose 6-phosphate to mannose 1-phosphate in the synthesis of GDP-mannose. The disease is linked to chromosome 16p13, and mutations have recently been identified in the PMM2 gene in CDG1 patients with a PMM deficiency (CDG1A). The availability of the genomic sequences of PMM2 allowed us to screen for mutations in 56 CDG1 patients from different geographic origins. By SSCP analysis and by sequencing, we identified 23 different missense mutations and 1 single-base-pair deletion. In total, mutations were found on 99% of the disease chromosomes in CDG1A patients. The R141H substitution is present on 43 of the 112 disease alleles. However, this mutation was never observed in the homozygous state, suggesting that homozygosity for these alterations is incompatible with life. On the other hand, patients were found homozygous for the D65Y and F119L mutations, which must therefore be mild mutations. One particular genotype, R141H/D188G, which is prevalent in Belgium and the Netherlands, is associated with a severe phenotype and a high mortality. Apart from this, there is only a limited relation between the genotype and the clinical phenotype. PMID:9497260

  18. CoQ deficiency causes disruption of mitochondrial sulfide oxidation, a new pathomechanism associated with this syndrome.

    PubMed

    Luna-Sánchez, Marta; Hidalgo-Gutiérrez, Agustín; Hildebrandt, Tatjana M; Chaves-Serrano, Julio; Barriocanal-Casado, Eliana; Santos-Fandila, Ángela; Romero, Miguel; Sayed, Ramy Ka; Duarte, Juan; Prokisch, Holger; Schuelke, Markus; Distelmaier, Felix; Escames, Germaine; Acuña-Castroviejo, Darío; López, Luis C

    2017-01-01

    Coenzyme Q (CoQ) is a key component of the mitochondrial respiratory chain, but it also has several other functions in the cellular metabolism. One of them is to function as an electron carrier in the reaction catalyzed by sulfide:quinone oxidoreductase (SQR), which catalyzes the first reaction in the hydrogen sulfide oxidation pathway. Therefore, SQR may be affected by CoQ deficiency. Using human skin fibroblasts and two mouse models with primary CoQ deficiency, we demonstrate that severe CoQ deficiency causes a reduction in SQR levels and activity, which leads to an alteration of mitochondrial sulfide metabolism. In cerebrum of Coq9(R239X) mice, the deficit in SQR induces an increase in thiosulfate sulfurtransferase and sulfite oxidase, as well as modifications in the levels of thiols. As a result, biosynthetic pathways of glutamate, serotonin, and catecholamines were altered in the cerebrum, and the blood pressure was reduced. Therefore, this study reveals the reduction in SQR activity as one of the pathomechanisms associated with CoQ deficiency syndrome.

  19. A case of Robin sequence, microgastria, radiohumeral synostosis, femoral deficiency, and other unusual findings: a newly recognized syndrome?

    PubMed

    Roberts, Jessica; Torres-Martinez, Wilfredo; Farrow, Emily; Stevens, Abby; Delk, Paula; White, Kenneth E; Weaver, David D

    2014-02-01

    In this report, we describe an 8-year-old male with Robin sequence, bilateral radiohumeral synostosis, microgastria, cryptorchidism, dislocated hips, proximal femoral deficiency, and an autism spectrum disorder. This combination of findings has not been previously reported. Features of particular interest are the radiohumeral synostosis and microgastria, both of which are rare defects, and to our knowledge, have not been reported to occur together. We propose that the patient has a newly recognized syndrome consisting of the aforementioned features, the etiology of which is unknown.

  20. Development and biological function of the female gonads and genitalia in IGF-I deficiency -- Laron syndrome as a model.

    PubMed

    Laron, Zvi

    2006-01-01

    Laron syndrome (LS) or primary GH insensitivity is a unique human model to study the effects of congenital IGF-I deficiency. Within our cohort of 63 patients with LS, 15 female patients were regularly followed since birth or infancy, throughout puberty. We observed that they were short at birth, with small genitalia and gonads -- during puberty, developed delayed puberty but eventually reached between 16 and 19 1/2 years full sexual development. Reproduction is unaffected at a young adult age. It is concluded that IGF-I in concert with the sex hormones has a modulatory but not essential function on female sexual development and maturation.

  1. Species-specific difference in expression and splice-site choice in Inpp5b, an inositol polyphosphate 5-phosphatase paralogous to the enzyme deficient in Lowe Syndrome.

    PubMed

    Bothwell, Susan P; Farber, Leslie W; Hoagland, Adam; Nussbaum, Robert L

    2010-10-01

    The oculocerebrorenal syndrome of Lowe (OCRL; MIM #309000) is an X-linked human disorder characterized by congenital cataracts, mental retardation, and renal proximal tubular dysfunction caused by loss-of-function mutations in the OCRL gene that encodes Ocrl, a type II phosphatidylinositol bisphosphate (PtdIns4,5P(2)) 5-phosphatase. In contrast, mice with complete loss-of-function of the highly homologous ortholog Ocrl have no detectable renal, ophthalmological, or central nervous system abnormalities. We inferred that the disparate phenotype between Ocrl-deficient humans and mice was likely due to differences in how the two species compensate for loss of the Ocrl enzyme. We therefore turned our attention to Inpp5b, another type II PtdIns4,5P(2) 5-phosphatase encoded by Inpp5b in mice and INPP5B in humans, as potential compensating genes in the two species, because Inpp5b/INPP5B are the most highly conserved paralogs to Ocrl/OCRL in the respective genomes of both species and Inpp5b demonstrates functional overlap with Ocrl in mice in vivo. We used in silico sequence analysis, reverse-transcription PCR, quantitative PCR, and transient transfection assays of promoter function to define splice-site usage and the function of an internal promoter in mouse Inpp5b versus human INPP5B. We found mouse Inpp5b and human INPP5B differ in their transcription, splicing, and primary amino acid sequence. These observations form the foundation for analyzing the functional basis for the difference in how Inpp5b and INPP5B compensate for loss of Ocrl function and, by providing insight into the cellular roles of Ocrl and Inpp5b, aid in the development of a model system in which to study Lowe syndrome.

  2. Wernicke-Korsakoff Syndrome

    MedlinePlus

    ... syndrome) is a memory disorder that results from vitamin B1 deficiency and is associated with alcoholism. Korsakoff's syndrome damages ... syndrome) is a memory disorder that results from vitamin B1 deficiency and is associated with alcoholism. Korsakoff's syndrome damages ...

  3. Vitamin D supplementation has no effect on insulin resistance assessment in women with polycystic ovary syndrome and vitamin D deficiency.

    PubMed

    Ardabili, Hania R; Gargari, Bahram P; Farzadi, Laya

    2012-03-01

    Insulin resistance is one of the most common features of polycystic ovary syndrome (PCOS). Some studies suggest that vitamin D deficiency may have a role in insulin resistance; thus, the aim of the current study was to determine the effect of vitamin D supplementation on insulin resistance in women with PCOS and a vitamin D deficiency. We hypothesized that vitamin D supplementation would lower the glucose level and insulin resistance in women with PCOS and a vitamin D deficiency. The current study was a randomized, placebo-controlled, double-blinded trial with 50 women with PCOS and a vitamin D deficiency, 20 to 40 years old, assigned to receive 3 oral treatments consisting of 50,000 IU of vitamin D₃ or a placebo (1 every 20 days) for 2 months (vitamin D, n = 24; placebo, n = 26). The fasting blood glucose, insulin, 25-hydroxyvitamin D, and parathyroid hormone levels, as well as the homeostasis model assessment of insulin resistance and quantitative insulin sensitivity check index were measured at baseline and after treatment. In the vitamin D group, the serum level of 25-hydroxyvitamin D increased (6.9 ± 2.8 to 23.4 ± 6.1 ng/mL, P < .0001), and the parathyroid hormone level decreased (70.02 ± 43.04 to 50.33 ± 21.99 μ IU/mL, P = .02). There were no significant changes in the placebo group. There was a significant increase in insulin secretion in the vitamin D group (P = .01), but this was not significant compared with the placebo group. The fasting serum insulin and glucose levels and the insulin sensitivity and homeostasis model assessment of insulin resistance did not change significantly by the end of the study. We were not able to demonstrate the effect of vitamin D supplementation on insulin sensitivity and insulin resistance in women with PCOS and vitamin D deficiency.

  4. Biotin deficiency and fatty liver and kidney syndrome in chicks given purified diets containing different fat and protein levels.

    PubMed

    Whitehead, C C; Bannister, D W; Evans, A J; Siller, W G; Wight, P A

    1976-01-01

    1. The occurence of biotin deficiency and fatty liver and kidney syndrome (FLKS) in chicks was studied using a 2x2x2x2 factorial-design experiment in which the variables were dietary biotin, fat and protein, and starvation. 2. The severity of biotin deficiency, using growth retardation and severity of dermal lesions as criteria, was least when the low-biotin diet also contained low levels of fat and protein. Addition of fat or protein increased the severity of the deficiency. Tissue fatty acid composition was affected by biotin deficiency only in those birds given the low-protein, low-fat diet. The main change was an increase in the ratio, 16:1 fatty acids :18:0 fatty acids. Plasma glucose and free fatty acid levels in non-fasted birds were unaffected by the dietary variables. 3. Mortality from FLKS with the diet containing low biotin, fat and protein levels was 52% at 28d, but was reduced or eliminated when the dietary level of any of these ingredients was increased. 4. Starvation considerably increased the incidnece of FLKS in the period immediately after fasting, and also affected plasma glucose and free fatty acid concentrations. Liver fatty acid composition, indicated an increase in the proportion of 18:0 at the expense of 16:1 and concentrations increased in proportion, at the expense of 18:0. 5. The relationship between biotin deficiency and FLKS, and a possible mechanism for the induction of FLKS by starvation are discussed.

  5. Recognition of medium-chain acyl-CoA dehydrogenase deficiency in asymptomatic siblings of children dying of sudden infant death or Reye-like syndromes.

    PubMed

    Roe, C R; Millington, D S; Maltby, D A; Kinnebrew, P

    1986-01-01

    The medium-chain acyl-CoA dehydrogenase (MCAD) deficiency of mitochondrial beta oxidation has been identified in two asymptomatic siblings in a family in which two previous deaths had been recorded, one attributed to sudden infant death syndrome and the other to Reye syndrome. Recognition of this disorder in one of the deceased and in the surviving siblings was accomplished by detection of a diagnostic metabolite, octanoylcarnitine, using a new mass spectrometric technique. This resulted in early treatment with L-carnitine supplement in the survivors, which should prevent metabolic deterioration. Further studies suggest that breast-feeding may be protective for infants with MCAD deficiency. Families with children who have had Reye syndrome or in which sudden infant death has occurred are at risk for MCAD deficiency. We suggest that survivors and asymptomatic siblings should be tested for this treatable disorder.

  6. AIDS Epidemic. Hearing before the Committee on Labor and Human Resources. United States Senate, One Hundredth Congress, First Session on Reviewing Federal Efforts Being Conducted toward Combating the AIDS Epidemic.

    ERIC Educational Resources Information Center

    Congress of the U.S., Washington, DC. Senate Committee on Labor and Human Resources.

    The text of a Senate hearing called to review federal efforts combating acquired immune deficiency syndrome (AIDS) is presented in this document. Opening statements reviewing the AIDS crisis are given by Senators Edward Kennedy and Lowell Weicker, Jr. Prepared statements are included by Senators Orrin Hatch and Ted Stevens. David Baltimore and…

  7. Seasons: The National Native American AIDS Prevention Center Quarterly. 1993.

    ERIC Educational Resources Information Center

    Rush, Andrea Green, Ed.

    1993-01-01

    The three 1993 issues of "Seasons" (the Spring/Summer issues are combined) address various aspects of dealing with Acquired Immune Deficiency Syndrome (AIDS) and Human Immunodeficiency Virus (HIV) among Native Americans. The Winter issue focuses on tuberculosis (TB) and its incidence and treatment among HIV-positive individuals.…

  8. Confronting AIDS. Directions for Public Health, Health Care, and Research.

    ERIC Educational Resources Information Center

    Institute of Medicine (NAS), Washington, DC.

    This book is addressed to anyone involved with or affected by the Acquired Immune Deficiency Syndrome (AIDS) epidemic, including legislators, researchers, health care personnel, insurance providers, educators, health officials, executives in the pharmaceutical industry, blood bank administrators, and other concerned individuals. The following…

  9. Gambling with Your Health: Predictors of Risk for AIDS.

    ERIC Educational Resources Information Center

    Lasorsa, Dominic L.; Shoemaker, Pamela J.

    To examine risk for Acquired Immune Deficiency Syndrome (AIDS) in terms of risk-related behaviors, and to investigate the factors that may be involved in putting one at risk, a study conducted telephone interviews with 493 randomly selected adults (18 years or older) in Austin, Texas in the fall of 1987. Respondents answered approximately 40…

  10. Medical Students' Perceptions and Proposed Treatment Strategies for AIDS Patients.

    ERIC Educational Resources Information Center

    Ladany, Nicholas; Stern, Marilyn

    Research has consistently found that health care providers report having negative attitudes and perceptions toward Acquired Immune Deficiency Syndrome (AIDS) patients. This study was conducted to examine the independent and joint influences of a patient's mode of acquisition of illness (blood transfusion versus sexual promiscuity), patient blame…

  11. AIDS/HIV Infection and the Workplace: NIDA Workgroup Report.

    ERIC Educational Resources Information Center

    National Inst. on Drug Abuse (DHHS/PHS), Rockville, MD.

    In October 1989, the Division of Applied Research of the National Institute on Drug Abuse (NIDA) convened a panel of experts to assess whether the basic principles and approaches that have been used in the development of workplace drug abuse programs and community acquired immune deficiency syndrome (AIDS) education programs can be applied to…

  12. Planning, Implementation, and Evaluation of AIDS Education Programs for Dentists.

    ERIC Educational Resources Information Center

    Gerbert, Barbara; And Others

    1991-01-01

    An office-based continuing education program on acquired immune deficiency syndrome (AIDS) for dentists is described, including needs assessment, model development, local piloting, national implementation with 119 dentists, and evaluation phases. Program evaluation indicated an improvement in risk perception, knowledge, and practice resulted, but…

  13. AIDS: New Challenge to the Counseling Psychologist in Private Practice.

    ERIC Educational Resources Information Center

    Fradkin, Howard R.

    Counseling psychologists, especially those who work with homosexual men, may find that Acquired Immune Deficiency Syndrome (AIDS) is a major focus of their work. Therapists must be comfortable talking explicitly with these clients about sex, and must be able to help clients talk explicitly about their behavior. Clients often feel ambivalent about…

  14. Psychological Interventions with AIDS and HIV: Prevention and Treatment.

    ERIC Educational Resources Information Center

    Kelly, Jeffrey A.; Murphy, Debra A.

    1992-01-01

    Notes that research to date has yielded important findings for primary prevention efforts for Acquired Immune Deficiency Syndrome (AIDS) and has identified psychological dimensions relevant to mental health interventions for persons with human immunodeficiency virus (HIV). Sees pressing need for more systematic intervention outcome research in…

  15. Are Victims of AIDS 'Handicapped' under Federal Law?

    ERIC Educational Resources Information Center

    Flygare, Thomas J.

    1986-01-01

    Discusses whether the disease AIDS (Acquired Immune Deficiency Syndrome) could be considered a "handicap." Describes a recent court decision, "Arline vs. School Board of Nassau County," in which the court found that a teacher with tuberculosis could be defined as handicapped and that her dismissal was in violation of Section…

  16. AIDS on Campus: Emerging Issues for College and University Administrators.

    ERIC Educational Resources Information Center

    Steinbach, Sheldon Elliot

    Legal information concerning Acquired Immune Deficiency Syndrome (AIDS) that college presidents may find helpful in establishing policies and procedures is provided in a paper by the general counsel of the American Council on Education. Sources of medical information, including the American College Health Association, hotlines, and federal…

  17. Illusions of Immortality: The Confrontation of Adolescence and AIDS.

    ERIC Educational Resources Information Center

    New York State Dept. of Health, Albany.

    Acquired Immune Deficiency Syndrome (AIDS) is a potent and a present danger for teenagers, casting a dark shadow over their lives now and in the future. A small, but significant, number of teenagers will develop Human Immune Virus (HIV)-related illness before they turn 20; a far greater number will become infected with the virus during…

  18. Selected Bibliography on AIDS for Health Services Research.

    ERIC Educational Resources Information Center

    Kelly, Joyce V., Comp.; Ball, Judy K., Comp.

    This bibliography cites 355 references to journal articles and other reports dealing with Acquired Immune Deficiency Syndrome (AIDS) and how it is being addressed through the health services delivery system. Annotations are arranged alphabetically by principal author within the following major categories: (1) bibliographies; (2) classification and…

  19. Teaching about AIDS/HIV Disease to College Students.

    ERIC Educational Resources Information Center

    Heller, Joseph R.

    This paper presents a psychology professor's account of his experiences teaching a course on Acquired Immune Deficiency Syndrome/Human Immunodeficiency Virus (AIDS/HIV) to college students. The first section discusses how to introduce and market the course on campus, and anticipate students' and colleagues' questions about one's motivations for…

  20. Facilitating Support Groups for Professionals Working with People with AIDS.

    ERIC Educational Resources Information Center

    Grossman, Arnold H.; Silverstein, Charles

    1993-01-01

    Describes support groups for health care professionals who work with people with human immunodeficiency virus (HIV) or Acquired Immune Deficiency Syndrome (AIDS) and who are experiencing burnout from excessive demands on their energy, strength, and resources. Discusses group administration, effective intervention techniques, and issues of health…

  1. Victims of AIDS: Family, Society, Cost and Outlook.

    ERIC Educational Resources Information Center

    Peyton, Doris F.

    Acquired Immune Deficiency Syndrome (AIDS) has become an increasing problem throughout the nation. Experts predict that there will have been 270,000 cases, including 179,000 deaths, by 1991. The disease has devastating psychosocial as well as physical effects. Neither preventive medicine nor a cure is anywhere in sight. Everyone needs to be…

  2. HIV/AIDS Guidelines for Special Education Populations.

    ERIC Educational Resources Information Center

    New Mexico State Dept. of Education, Santa Fe.

    This report presents guidelines for implementing human immunodeficiency virus/acquired immune deficiency syndrome (AIDS) curriculum with New Mexico students receiving special education services. The guidelines are organized by grade level, noting content themes, objectives, disciplines/subjects, and resources available. The guidelines are intended…

  3. Guidelines on AIDS in Europe. First Revised Edition.

    ERIC Educational Resources Information Center

    Zoffmann, H.; And Others

    The problem of acquired immune deficiency syndrome (AIDS) in Europe and public health measures that can be taken to reduce the spread of infection are discussed. These guidelines cover: the magnitude of the problem in Europe, the virus and its mode of transmission, major clinical features of the disease, laboratory tests, possibilities of…

  4. AIDS Resource Directory and Repertoire de ressources sur le SIDA.

    ERIC Educational Resources Information Center

    Department of National Health and Welfare, Ottawa (Ontario).

    This set of documents presents directories of resources on the topic of Acquired Immune Deficiency Syndrome (AIDS) available in Canada in English and in French. The first section in each directory contains a list of names, addresses, and telephone numbers of organizations from which readers may obtain the listed resources. Resources are then…

  5. Deficient Expression of Aldehyde Dehydrogenase 1A1 is Consistent With Increased Sensitivity of Gorlin Syndrome Patients to Radiation Carcinogenesis

    PubMed Central

    Wright, Aaron T.; Magnaldo, Thierry; Sontag, Ryan L.; Anderson, Lindsey N.; Sadler, Natalie C.; Piehowski, Paul D.; Gache, Yannick; Weber, Thomas J.

    2016-01-01

    Human phenotypes that are highly susceptible to radiation carcinogenesis have been identified. Sensitive phenotypes often display robust regulation of molecular features that modify biological response, which can facilitate identification of the pathways/networks that contribute to pathophysiological outcomes. Here we interrogate primary dermal fibroblasts isolated from Gorlin syndrome patients (GDFs), who display a pronounced inducible tumorigenic response to radiation, in comparison to normal human dermal fibroblasts (NHDFs). Our approach exploits newly developed thiol reactive probes to define changes in protein thiol profiles in live cell studies, which minimizes artifacts associated with cell lysis. Redox probes revealed deficient expression of an apparent 55 kDa protein thiol in GDFs from independent Gorlin syndrome patients, compared with NHDFs. Proteomics tentatively identified this protein as aldehyde dehydrogenase 1A1 (ALDH1A1), a key enzyme regulating retinoic acid synthesis, and ALDH1A1 protein deficiency in GDFs was confirmed by Western blot. A number of additional protein thiol differences in GDFs were identified, including radiation responsive annexin family members and lamin A/C. Collectively, candidates identified in our study have plausible implications for radiation health effects and cancer susceptibility. PMID:24285572

  6. Deficient expression of aldehyde dehydrogenase 1A1 is consistent with increased sensitivity of Gorlin syndrome patients to radiation carcinogenesis.

    PubMed

    Wright, Aaron T; Magnaldo, Thierry; Sontag, Ryan L; Anderson, Lindsey N; Sadler, Natalie C; Piehowski, Paul D; Gache, Yannick; Weber, Thomas J

    2015-06-01

    Human phenotypes that are highly susceptible to radiation carcinogenesis have been identified. Sensitive phenotypes often display robust regulation of molecular features that modify biological response, which can facilitate identification of the pathways/networks that contribute to pathophysiological outcomes. Here we interrogate primary dermal fibroblasts isolated from Gorlin syndrome patients (GDFs), who display a pronounced inducible tumorigenic response to radiation, in comparison to normal human dermal fibroblasts (NHDFs). Our approach exploits newly developed thiol reactive probes to define changes in protein thiol profiles in live cell studies, which minimizes artifacts associated with cell lysis. Redox probes revealed deficient expression of an apparent 55 kDa protein thiol in GDFs from independent Gorlin syndrome patients, compared with NHDFs. Proteomics tentatively identified this protein as aldehyde dehydrogenase 1A1 (ALDH1A1), a key enzyme regulating retinoic acid synthesis, and ALDH1A1 protein deficiency in GDFs was confirmed by Western blot. A number of additional protein thiol differences in GDFs were identified, including radiation responsive annexin family members and lamin A/C. Collectively, candidates identified in our study have plausible implications for radiation health effects and cancer susceptibility.

  7. Deficient expression of aldehyde dehydrogenase 1A1 is consistent with increased sensitivity of Gorlin syndrome patients to radiation carcinogenesis

    DOE PAGES

    Wright, Aaron T.; Magnaldo, Thierry; Sontag, Ryan L.; ...

    2013-11-27

    Human phenotypes that are highly susceptible to radiation carcinogenesis have been identified. Sensitive phenotypes often display robust regulation of molecular features that modify biological response, which can facilitate identification of relevant pathways/networks. Here we interrogate primary dermal fibroblasts isolated from Gorlin syndrome patients (GDFs), who display a pronounced tumorigenic response to radiation, in comparison to normal human dermal fibroblasts (NHDFs). Our approach exploits newly developed thiol-reactive probes with a flexible click chemistry functional group to define changes in protein thiol profiles in live cell studies, which minimizes artifacts associated with cell lysis. We observe qualitative differences in protein thiol profilesmore » by SDS-PAGE analysis when detection by iodoacetamide vs maleimide probe chemistries are compared, and pretreatment of cells with hydrogen peroxide eliminates detection of the majority of SDS-PAGE bands. Redox probes revealed deficient expression of an apparent 55 kDa protein thiol in GDFs from independent donors, compared with NHDFs. Proteomics tentatively identified this protein as aldehyde dehydrogenase 1A1 (ALDH1A1), a key enzyme regulating retinoic acid synthesis, and this deficiency was confirmed by Western blot. Redox probes revealed additional protein thiol differences between GDFs and NHDFs, including radiation responsive annexin family members. Our results indicate a multifactorial basis for the unusual sensitivity of Gorlin syndrome to radiation carcinogenesis, and the pathways identified have plausible implications for radiation health effects.« less

  8. Deficient expression of aldehyde dehydrogenase 1A1 is consistent with increased sensitivity of Gorlin syndrome patients to radiation carcinogenesis

    SciTech Connect

    Wright, Aaron T.; Magnaldo, Thierry; Sontag, Ryan L.; Anderson, Lindsey N.; Sadler, Natalie C.; Piehowski, Paul D.; Gache, Yannick; Weber, Thomas J.

    2013-11-27

    Human phenotypes that are highly susceptible to radiation carcinogenesis have been identified. Sensitive phenotypes often display robust regulation of molecular features that modify biological response, which can facilitate identification of relevant pathways/networks. Here we interrogate primary dermal fibroblasts isolated from Gorlin syndrome patients (GDFs), who display a pronounced tumorigenic response to radiation, in comparison to normal human dermal fibroblasts (NHDFs). Our approach exploits newly developed thiol-reactive probes with a flexible click chemistry functional group to define changes in protein thiol profiles in live cell studies, which minimizes artifacts associated with cell lysis. We observe qualitative differences in protein thiol profiles by SDS-PAGE analysis when detection by iodoacetamide vs maleimide probe chemistries are compared, and pretreatment of cells with hydrogen peroxide eliminates detection of the majority of SDS-PAGE bands. Redox probes revealed deficient expression of an apparent 55 kDa protein thiol in GDFs from independent donors, compared with NHDFs. Proteomics tentatively identified this protein as aldehyde dehydrogenase 1A1 (ALDH1A1), a key enzyme regulating retinoic acid synthesis, and this deficiency was confirmed by Western blot. Redox probes revealed additional protein thiol differences between GDFs and NHDFs, including radiation responsive annexin family members. Our results indicate a multifactorial basis for the unusual sensitivity of Gorlin syndrome to radiation carcinogenesis, and the pathways identified have plausible implications for radiation health effects.

  9. The Tuskegee Syphilis Study, 1932 to 1972: Implications for HIV Education and AIDS Risk Education Programs in the Black Community.

    ERIC Educational Resources Information Center

    Thomas, Stephen B.; Quinn, Sandra Crouse

    1991-01-01

    The Tuskegee study of untreated syphilis in black males caused distrust by blacks of the public health system that has implications for Acquired Immune Deficiency Syndrome (AIDS) and Human Immunodeficiency Virus (HIV) studies. AIDS prevention among blacks may require openness about the Tuskegee study to allay fears of repetition. (SLD)

  10. Relationships between Time Orientation, Knowledge of AIDS, and Self-Reported Sexual Behavioral Changes in College Students.

    ERIC Educational Resources Information Center

    Walters, Andrew S.

    College students as young adults are sexually active. Authorities on Acquired Immune Deficiency Syndrome (AIDS) are concerned about the transmission of Human Immunodeficiency Virus (HIV) in college students since students are sexually active but do not perceive precautions against AIDS as necessary for themselves. This study examined what college…

  11. A Study of the Attitudes of Nursing Students toward Caring for AIDS Patients. Law, Politics, and Economics of Higher Education.

    ERIC Educational Resources Information Center

    Malloy, Suzanne E.

    This study examined the attitudes of undergraduate and graduate nursing students (N=282) towards caring for Acquired Immune Deficiency Syndrome (AIDS) patients. A 57-item Likert type AIDS attitude questionnaire focused on the following questions: (1) Is there a difference in the comfort level of juniors, seniors, or graduate students caring for…

  12. Problems in the Workplace: AIDS, Drug Testing, Sexual Harassment, and Smoking Restrictions. LERC Monograph Series No. 7. Second Edition.

    ERIC Educational Resources Information Center

    Durham, Robert; And Others

    This document presents discussions of four problems that may be found in the workplace. "AIDS in the Workplace: Employee Safety and Rights" (Robert Durham and Burton White) explores issues of employee/employer relationship and the issue of Acquired immune deficiency syndrome (AIDS) in the workplace. It concludes that the management of the AIDS…

  13. An Exploration of Medical Care: A Content Analysis of the Views of People with the AIDS Virus.

    ERIC Educational Resources Information Center

    Doerr, Patricia F.; And Others

    Perceptions of the quality of medical care and the attitudes of medical personnel experienced by people infected with the Acquired Immune Deficiency Syndrome (AIDS) virus were studied using subjects known to be infected with the human immunodeficiency virus (HIV) that causes AIDS. Ten infected subjects participated in the study. Their interview…

  14. Health Care and the Social Construction of AIDS: Impact of Disease Definitions on Psychosocial Adaptation and Economic Circumstances.

    ERIC Educational Resources Information Center

    Crystal, Stephen; Jackson, Marguerite

    As with other illnesses, Acquired Immune Deficiency Syndrome (AIDS) is a socially constructed phenomenon, not simply a biological entity. Biologically, Human Immunodeficiency Virus (HIV) infection causes immunosuppression, which in turn causes a spectrum of disease states. The official definition of AIDS by the Centers for Disease Control requires…

  15. Informed Choice for Participation in Down Syndrome Screening: Development and Content of a Web-Based Decision Aid

    PubMed Central

    Hansen, Helle Ploug; Draborg, Eva; Pedersen, Claus Duedal; Lamont, Ronald F; Jørgensen, Jan Stener

    2015-01-01

    Background In Denmark, all pregnant women are offered screening in early pregnancy to estimate the risk of having a fetus with Down syndrome. Pregnant women participating in the screening program should be provided with information and support to allow them to make an informed choice. There is increasing interest in the use of Web-based technology to provide information and digital solutions for the delivery of health care. Objective The aim of this study was to develop an eHealth tool that contained accurate and relevant information to allow pregnant women to make an informed choice about whether to accept or reject participation in screening for Down syndrome. Methods The development of the eHealth tool involved the cooperation of researchers, technology experts, clinicians, and users. The underlying theoretical framework was based on participatory design, the International Patient Decision Aid Standards (IPDAS) Collaboration guide to develop a patient decision aid, and the roadmap for developing eHealth technologies from the Center for eHealth Research and Disease Management (CeHRes). The methods employed were a systematic literature search, focus group interviews with 3 care providers and 14 pregnant women, and 2 weeks of field observations. A qualitative descriptive approach was used in this study. Results Relevant themes from pregnant women and care providers with respect to information about Down syndrome screening were identified. Based on formalized processes for developing patient decision aids and eHealth technologies, an interactive website containing information about Down syndrome, methods of screening, and consequences of the test was developed. The intervention was based on user requests and needs, and reflected the current hospital practice and national guidelines. Conclusions This paper describes the development and content of an interactive website to support pregnant women in making informed choices about Down syndrome screening. To develop the

  16. PX-RICS-deficient mice mimic autism spectrum disorder in Jacobsen syndrome through impaired GABAA receptor trafficking.

    PubMed

    Nakamura, Tsutomu; Arima-Yoshida, Fumiko; Sakaue, Fumika; Nasu-Nishimura, Yukiko; Takeda, Yasuko; Matsuura, Ken; Akshoomoff, Natacha; Mattson, Sarah N; Grossfeld, Paul D; Manabe, Toshiya; Akiyama, Tetsu

    2016-03-16

    Jacobsen syndrome (JBS) is a rare congenital disorder caused by a terminal deletion of the long arm of chromosome 11. A subset of patients exhibit social behavioural problems that meet the diagnostic criteria for autism spectrum disorder (ASD); however, the underlying molecular pathogenesis remains poorly understood. PX-RICS is located in the chromosomal region commonly deleted in JBS patients with autistic-like behaviour. Here we report that PX-RICS-deficient mice exhibit ASD-like social behaviours and ASD-related comorbidities. PX-RICS-deficient neurons show reduced surface γ-aminobutyric acid type A receptor (GABAAR) levels and impaired GABAAR-mediated synaptic transmission. PX-RICS, GABARAP and 14-3-3ζ/θ form an adaptor complex that interconnects GABAAR and dynein/dynactin, thereby facilitating GABAAR surface expression. ASD-like behavioural abnormalities in PX-RICS-deficient mice are ameliorated by enhancing inhibitory synaptic transmission with a GABAAR agonist. Our findings demonstrate a critical role of PX-RICS in cognition and suggest a causal link between PX-RICS deletion and ASD-like behaviour in JBS patients.

  17. PX-RICS-deficient mice mimic autism spectrum disorder in Jacobsen syndrome through impaired GABAA receptor trafficking

    PubMed Central

    Nakamura, Tsutomu; Arima-Yoshida, Fumiko; Sakaue, Fumika; Nasu-Nishimura, Yukiko; Takeda, Yasuko; Matsuura, Ken; Akshoomoff, Natacha; Mattson, Sarah N.; Grossfeld, Paul D.; Manabe, Toshiya; Akiyama, Tetsu

    2016-01-01

    Jacobsen syndrome (JBS) is a rare congenital disorder caused by a terminal deletion of the long arm of chromosome 11. A subset of patients exhibit social behavioural problems that meet the diagnostic criteria for autism spectrum disorder (ASD); however, the underlying molecular pathogenesis remains poorly understood. PX-RICS is located in the chromosomal region commonly deleted in JBS patients with autistic-like behaviour. Here we report that PX-RICS-deficient mice exhibit ASD-like social behaviours and ASD-related comorbidities. PX-RICS-deficient neurons show reduced surface γ-aminobutyric acid type A receptor (GABAAR) levels and impaired GABAAR-mediated synaptic transmission. PX-RICS, GABARAP and 14-3-3ζ/θ form an adaptor complex that interconnects GABAAR and dynein/dynactin, thereby facilitating GABAAR surface expression. ASD-like behavioural abnormalities in PX-RICS-deficient mice are ameliorated by enhancing inhibitory synaptic transmission with a GABAAR agonist. Our findings demonstrate a critical role of PX-RICS in cognition and suggest a causal link between PX-RICS deletion and ASD-like behaviour in JBS patients. PMID:26979507

  18. Insights into vaccine development for acquired immune deficiency syndrome from crystal structures of human immunodeficiency virus-1 gp41 and equine infectious anemia virus gp45.

    PubMed

    Duan, Liangwei; Du, Jiansen; Liu, Xinqi

    2015-10-01

    An effective vaccine against acquired immune deficiency syndrome is still unavailable after dozens of years of striving. The glycoprotein gp41 of human immunodeficiency virus is a good candidate as potential immunogen because of its conservation and relatively low glycosylation. As a reference of human immunodeficiency virus gp41, gp45 from equine infectious anemia virus (EIAV) could be used for comparison because both wild-type and vaccine strain of EIAV have been extensively studied. From structural studies of these proteins, the conformational changes during viral invasion could be unveiled, and a more effective acquired immune deficiency syndrome vaccine immunogen might be designed based on this information.

  19. Evans syndrome and antibody deficiency: an atypical presentation of chromosome 22q11.2 deletion syndrome

    PubMed Central

    Colarusso, Gloria; Gambineri, Eleonora; Lapi, Elisabetta; Casini, Tommaso; Tucci, Fabio; Lippi, Francesca; Azzari, Chiara

    2010-01-01

    We report a case of an 8-year-old male patient with Evans syndrome and severe hypogammaglobulinemia, subsequently in whom the 22q11.2 deletion syndrome (22q11.2 DS) was diagnosed. No other clinical sign of 22q11.2 DS was present with the exception of slight facial dysmorphism. The case is of particular interest because it suggests the need to research chromosome 22q11.2 deletion in patients who present with autoimmune cytopenia and peculiar facial abnormalities, which could be an atypical presentation of an incomplete form of 22q11.2 DS. PMID:21589826

  20. Evans syndrome and antibody deficiency: an atypical presentation of chromosome 22q11.2 deletion syndrome.

    PubMed

    Colarusso, Gloria; Gambineri, Eleonora; Lapi, Elisabetta; Casini, Tommaso; Tucci, Fabio; Lippi, Francesca; Azzari, Chiara

    2010-09-06

    We report a case of an 8-year-old male patient with Evans syndrome and severe hypogammaglobulinemia, subsequently in whom the 22q11.2 deletion syndrome (22q11.2 DS) was diagnosed. No other clinical sign of 22q11.2 DS was present with the exception of slight facial dysmorphism. The case is of particular interest because it suggests the need to research chromosome 22q11.2 deletion in patients who present with autoimmune cytopenia and peculiar facial abnormalities, which could be an atypical presentation of an incomplete form of 22q11.2 DS.

  1. AIDS (Acquired Immunodeficiency Syndrome) Education: Activities Aimed at the General Public Implemented Slowly

    DTIC Science & Technology

    1988-12-01

    Budget (Fiscal Years 1984-1988) 8 Table 1.3: CDC AIDS Education Expenditure Plan by 9 Target Group /Activity (Fiscal Years 1985-1987) Table 11. 1...four target groups and various program activities within each target group , as shown in table 1.3. Page 8 GAO ItRD.S-21 AIDS Education Appeudix I CI...Xs AIDS Education Budget and Planned Expenditures (FIscal Years IlS-1US) Table 1.3: CDC AIDS Education Expenditure Plan by Target Group / Dollars in

  2. Clinical aspects of the acquired immune deficiency syndrome in the United Kingdom.

    PubMed Central

    Weber, J N; Carmichael, D J; Sawyer, N; Pinching, A J; Harris, J R

    1984-01-01

    Between August and November 1983, seven new patients with AIDS were seen at this hospital; two with disseminated Kaposi's sarcoma, and five with opportunist infections, of whom three have died. We present the case histories of the five patients with opportunist infections, which show the wide clinical range of AIDS and suggest that the pattern of infection in the UK may differ from that reported in the USA. PMID:6744012

  3. Women and AIDS: introduction.

    PubMed

    Krieger, N; Margo, G

    1991-01-01

    Around the world, more and more women--principally poor women of color--are being diagnosed with and are dying of AIDS, the acquired immune deficiency syndrome. Yet, effective and appropriate prevention programs for women are sorely missing from the global program to control AIDS. To help us understand why this gap exists, and what we must do to close it, the three articles in this issue focus on women and AIDS. Examining the situation in such countries as Zimbabwe and South Africa, as well as in other economically underdeveloped and developed regions, the authors argue that women with the least control over their bodies and their lives are at greatest risk of acquiring AIDS. For example, the high rate of infection among women in Africa cannot be understood apart from the legacy of colonialism (including land expropriation and the forced introduction of a migrant labor system) and the insidious combination of traditional and European patriarchal values. Only by recognizing the socioeconomic and cultural determinants of both disease and sexual behavior, and only by incorporating these insights into our AIDS prevention programs, will we be able to curb the spread of this lethal disease.

  4. Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.

    PubMed

    Baas, Annette F; Gabbett, Michael; Rimac, Milan; Kansikas, Minttu; Raphael, Martine; Nievelstein, Rutger Aj; Nicholls, Wayne; Offerhaus, Johan; Bodmer, Danielle; Wernstedt, Annekatrin; Krabichler, Birgit; Strasser, Ulrich; Nyström, Minna; Zschocke, Johannes; Robertson, Stephen P; van Haelst, Mieke M; Wimmer, Katharina

    2013-01-01

    Constitutional mismatch repair deficiency (CMMR-D) syndrome is a rare inherited childhood cancer predisposition caused by biallelic germline mutations in one of the four mismatch repair (MMR)-genes, MLH1, MSH2, MSH6 or PMS2. Owing to a wide tumor spectrum, the lack of specific clinical features and the overlap with other cancer predisposing syndromes, diagnosis of CMMR-D is often delayed in pediatric cancer patients. Here, we report of three new CMMR-D patients all of whom developed more than one malignancy. The common finding in these three patients is agenesis of the corpus callosum (ACC). Gray matter heterotopia is present in two patients. One of the 57 previously reported CMMR-D patients with brain tumors (therefore all likely had cerebral imaging) also had ACC. With the present report the prevalence of cerebral malformations is at least 4/60 (6.6%). This number is well above the population birth prevalence of 0.09-0.36 live births with these cerebral malformations, suggesting that ACC and heterotopia are features of CMMR-D. Therefore, the presence of cerebral malformations in pediatric cancer patients should alert to the possible diagnosis of CMMR-D. ACC and gray matter heterotopia are the first congenital malformations described to occur at higher frequency in CMMR-D patients than in the general population. Further systematic evaluations of CMMR-D patients are needed to identify possible other malformations associated with this syndrome.

  5. [FEATURES OF CLINICAL COURSE AND MORPHOMETRIC PARAMETERS OF BENIGN PROSTATIC HYPERPLASIA IN MEN WITH METABOLIC SYNDROME AND ANDROGEN DEFICIENCY].

    PubMed

    Tyuzikov, I A; Grekov, E A; Kalinchenko, S Yu

    2015-01-01

    The study was aimed to the evaluation of the effect of the components of the metabolic syndrome (obesity, insulin resistance (IR)) and androgen deficiency on the clinical course of lower urinary tract symptoms against the background of benign prostatic hyperplasia (LUTS/BPH) and nocturia, as well as on some of the parameters of BPH (prostate volume, residual urine volume, total prostate-specific antigen (PSA) blood level). The comprehensive survey of 160 men with LUTS/BPH (mean age 56.7 ± 3.3 years) was performed; based on the results of survey, three comparison groups were formed: Group 1 (n = 70)--patients with isolated obesity; Group 2 (n = 36)--patients with obesity and insulin resistance; and Group 3 (n = 54)--patients with obesity, insulin resistance and androgen deficiency. The control group consisted of 30 patients with LUTS/BPH without these metabolic and hormonal disorders. In patients with LUTS/BPH and obesity, higher frequency of nocturia compared with the control group was revealed (63.7% vs 23.3%; P < 0.05), as well as the relationship between the waist circumference and free testosterone level (n = 160; r = -0.322; P = 0.005) and waist circumference and total prostate volume (n = 160; r = 0.121; P = 0.005). In patients of Group 2, significant positive correlation between waist circumference and blood insulin level was identified (n = 36; r = 0.461; P = 0.005). Patients with obesity, insulin resistance and androgen deficiency had the highest average prostate volume and residual urine volume compared with those of other groups (P < 0.05). Thus, obesity, insulin resistance, androgen deficiency are associated pathological conditions, greatly aggravating the clinical course of LUTS/BPH due to adverse impact on the BPH parameters, acting both together and separately. The most severe LUTS/BPH were associated with the presence of all three of the above systemic disorders.

  6. Pi (Spleen)-deficiency syndrome in tumor microenvironment is the pivotal pathogenesis of colorectal cancer immune escape.

    PubMed

    Sun, Xue-Gang; Lin, Xiao-Chang; Diao, Jian-Xin; Yu, Zhi-Ling; Li, Kun

    2016-10-01

    Cancer immunoediting consists of three sequential phases: elimination, equilibrium, and escape. For colorectal adenoma-carcinoma sequence, the adenoma dysplastic progression may represent an equilibrium phase and the cancer stage as escape phase. Immune system eliminates transformed enterocytes by destroying them at first, sculpts them at the same time and selects the variants subsequently that are no longer recognized and insensitive to immune effectors, and finally induces immunosuppressive state within the tumor microenvironment that facilitates immune escape and tumor outgrowth. Immunosuppression and inflammation are the two crucial features of Pi (Spleen)-deficiency. Classic quotations, immune evidence and clinical observations suggest that Spleen (but not other organs) deficiency is the key pathogenesis of colorectal cancer (CRC) microenvironment. Weakness of old age, immunosuppressive cytokines from chronic inflammation, tumor-derived immunosuppressive factors and surrendered immune cells-regulatory T cells, myeloid-derived suppressor cells and tumor associated macrophages (TAMs) constitutes CRC microenvironment of Pi-deficiency. Furthermore, excess in superficiality, such as phlegm stagnation, blood stasis and toxin accumulation are induced by chronic inflammation on the basis of asthenia in origin, an immunosuppressive state. Great masters of Chinese medicine emphasize that strengthen Pi is the chief therapeutic principle for CRC which receives good therapeutic effects. So, Pi-deficiency based syndrome is the pivotal pathogenesis of tumor microenvironment. The immunosuppressive microenvironment facilitates immune escape which play an important role in the transition from adenoma to adenocarcinoma. There are some signs that strengthen Pi based treatment has potential capacity to ameliorate tumor environment. It might be a novel starting point to explore the mechanism of strengthen Pi based therapy in the prevention and treatment of CRC through regulation of

  7. AIDS (Acquired Immunodeficiency Syndrome) Prevention: Views on the Administration’s Budget Proposals.

    DTIC Science & Technology

    1987-08-12

    protozoal, or fungal infections. The two most common infections contracted by AIDS patients are pneumocystis carinii pneumonia and Kaposi’s sarcoma. CDC...according to CDC, the proportion of AIDS patients with Kaposi’s sarcoma may decrease while pneumocystis carinii pneumonia may increase. Since the latter

  8. Vitamin D Deficiency and Metabolism in HIV-Infected and HIV-Uninfected Men in the Multicenter AIDS Cohort Study.

    PubMed

    Zhang, Long; Tin, Adrienne; Brown, Todd T; Margolick, Joseph B; Witt, Mallory D; Palella, Frank J; Kingsley, Lawrence A; Hoofnagle, Andrew N; Jacobson, Lisa P; Abraham, Alison G

    2017-03-01

    We evaluated associations of serum 25-hydroxyvitamin D (25[OH]D) and 1,25-dihydroxyvitamin D (1,25[OH]2D) levels in a cohort of HIV-infected and HIV-uninfected men at risk for infection in the United States. Stored samples collected between 1999 and 2008 were tested for vitamin D metabolites between 2014 and 2015. Vitamin D deficiency was defined as a serum concentration of 25[OH]D <20 ng/ml. Multivariate models were used to assess associations of various demographic and clinical factors with vitamin D status. HIV-infected men on effective antiretroviral therapy (n = 640) and HIV-uninfected men (n = 99) had comparable levels of 25[OH]D and 1,25[OH]2D, and prevalences of vitamin D deficiency were 41% in HIV-infected and 44% in HIV-uninfected men, respectively. Self-reported black or other non-white race, obesity, and normal kidney function were significant predictors of vitamin D deficiency regardless of HIV serostatus. Lower CD4(+) T cell count was associated with vitamin D deficiency in HIV-infected men, while current ritonavir use was protective. Self-reported black race was the only factor significantly associated with higher levels of 1,25[OH]2D (vs. whites; β = 4.85 pg/ml, p = .003). Levels of 1,25[OH]2D and 25[OH]D were positively correlated in HIV-infected men (β = 0.32 pg/ml, p < .001), but not in uninfected men (β = -0.09 pg/ml, p = .623; p < .05 for interaction). Vitamin D deficiency was prevalent regardless of HIV serostatus in this cohort, suggesting that HIV infection did not confer additional risk of deficiency in this cohort of well-treated HIV-infected men. However, HIV infection and race may have implications for vitamin D metabolism and 1,25[OH]2D levels.

  9. Have We Hatched the Addiction Egg: Reward Deficiency Syndrome Solution System™

    PubMed Central

    Downs, BW; Oscar-Berman, M; Waite, RL; Madigan, MA; Giordano, J; Beley, T; Jones, S; Simpatico, T; Hauser, M; Borsten, J; Marcelo, F; Braverman, ER; Lohmann, R; Dushaj, K; Helman, M; Barh, D; Schoenthaler, ST; Han, D; Blum, K

    2013-01-01

    This article co-authored by a number of scientists, ASAM physicians, clinicians, treatment center owners, geneticists, neurobiologists, psychologists, social workers, criminologists, nurses, nutritionist, and students, is dedicated to all the people who have lost loved ones in substance-abuse and “reward deficiency syndrome” related tragedies. Why are we failing at reducing the incidence of ‘Bad Behaviors’? Are we aiming at the wrong treatment targets for behavioral disorders? We are proposing a paradigm shift and calling it “Reward Deficiency Solution System” providing evidence for its adoption. PMID:24077767

  10. Sonography as an aid to neurophysiological studies in diagnosing tarsal tunnel syndrome.

    PubMed

    Vijayan, Joy; Therimadasamy, A K; Teoh, H L; Chan, Y C; Wilder-Smith, E P

    2009-06-01

    Diagnosing tarsal tunnel syndrome can be difficult because of varying clinical diagnostic criteria and equivocal physical signs. We present a case of tarsal tunnel syndrome where nerve conduction identified distal tibial neuropathy and high-resolution sonography was able to show nerve swelling within the tarsal tunnel.

  11. Microsporidial keratoconjunctivitis in a patient with AIDS.

    PubMed Central

    Metcalfe, T W; Doran, R M; Rowlands, P L; Curry, A; Lacey, C J

    1992-01-01

    A male patient is described with acquired immune deficiency syndrome (AIDS) who developed chronic keratoconjunctivitis and chronic sinusitis due to infection with the microsporidian Encephalitozoon cuniculi. Diagnosis was confirmed by electron microscopic examination of conjunctival epithelial cells and nasal polypectomy specimens. Treatment with propamidine isethionate 0.1% (Brolene) eye drops six times daily led to a prompt resolution of the keratoconjunctivitis. Images PMID:1540567

  12. A New Syndrome with Hypotonia, Obesity, Mental Deficiency, and Facial, Oral, Ocular, and Limb Anomalies

    ERIC Educational Resources Information Center

    Cohen, M. Michael, Jr.; And Others

    1973-01-01

    Presented were three case reports of patients, 8 to 18 years of age, who shared common features, such as obesity beginning in midchildhood, hypotonia, mental deficiency characteristic craniofacial appearance (antimongoloid slant, open mouth, or prominent central incisors), oral and ocular anomalies, and tapering extremities with narrow hands and…

  13. Epidemiology of human immuno-deficiency virus and quality of life for people living with HIV/AIDS in China.

    PubMed

    Mkangara, Ommari Baaliy; Nie, Shaofa; Wang, Chongjian; Xu, Yihua; Mweri, Saumu Tobbi; Kobelo, Theresia M; Bapumiia, Mustaafa

    2008-04-01

    HIV/AIDS is increasing in prevalence in China and spread of infection from highly risk populations to the general populations was recognized. Despite the fact, there are still only few scientific reviews on quality of life (QOL) for people living with HIV/AIDS (PLWHAs). However, many PLWHAs are struggling with social and psychological influences such as substances abuse, cultural beliefs, depression, stigma, poverty, which can affect their QOL. Public unawareness about infection and disease, willingness to seek medical care and motivation to follow therapy are indirectly influencing health outcome. In 2003 Chinese government has established the so-called the "Four Frees and One Care" policy. The policy was officially implemented from 2004 in some areas, yet to date it is not implemented nationwide. This paper discussed the epidemiology of HIV, underlying psychosocial factors affecting PLWHAs and their impact on QOL. We put forward some recommendations for stakeholders, advocacy groups, non-government organizations and Chinese government.

  14. A novel mutation of the adrenocorticotropin receptor (ACTH-R) gene in a family with the syndrome of isolated glucocorticoid deficiency, but no ACTH-R abnormalities in two families with the triple A syndrome.

    PubMed

    Tsigos, C; Arai, K; Latronico, A C; DiGeorge, A M; Rapaport, R; Chrousos, G P

    1995-07-01

    Isolated glucocorticoid deficiency (IGD) is an autosomal recessive disorder characterized by primary adrenocortical insufficiency, usually without mineralocorticoid deficiency. Occasionally, the disorder is associated with alacrima and achalasia of the esophagus (triple A syndrome), suggesting potential heterogeneity in its etiology. Mutations in the ACTH receptor gene have been reported in several families with IGD. We have amplified and directly sequenced the entire intronless ACTH receptor gene in 1 other family with IGD and 2 families with triple A syndrome. The proband with IGD was a homozygote for an A-->G substitution, changing tyrosine 254 to cysteine in the third extracellular loop of the receptor protein, probably interfering with ligand binding. Both of her parents were heterozygotes for this mutation, which was not detected in 100 normal alleles. No mutations were identified in the entire coding area of the ACTH receptor in the 2 families with triple A syndrome, supporting the idea of a developmental or postreceptor defect in this syndrome.

  15. A novel activation-induced cytidine deaminase (AID) mutation in Brazilian patients with hyper-IgM type 2 syndrome.

    PubMed

    Caratão, Nadine; Cortesão, Catarina S; Reis, Pedro H; Freitas, Raquel F; Jacob, Cristina M A; Pastorino, Antonio C; Carneiro-Sampaio, Magda; Barreto, Vasco M

    2013-08-01

    Activation-induced cytidine deaminase (AID) is a DNA editing protein that plays an essential role in three major events of immunoglobulin (Ig) diversification: somatic hypermutation, class switch recombination and Ig gene conversion. Mutations in the AID gene (AICDA) have been found in patients with autosomal recessive Hyper-IgM (HIGM) syndrome type 2. Here, two 9- and 14-year-old Brazilian sisters, from a consanguineous family, were diagnosed with HIGM2 syndrome. Sequencing analysis of the exons from AICDA revealed that both patients are homozygous for a single C to G transversion in the third position of codon 15, which replaces a conserved Phenylalanine with a Leucine. To our knowledge, this is a new AICDA mutation found in HIGM2 patients. Functional studies confirm that the homologous murine mutation leads to a dysfunctional protein with diminished intrinsic cytidine deaminase activity and is unable to rescue CSR when introduced in Aicda(-/-)stimulated murine B cells. We briefly discuss the relevance of AICDA mutations found in patients for the biology of this molecule.

  16. [The AIDS patient in anesthesia].

    PubMed

    Jalowy, A; Flesche, C W; Lorenz, C

    1997-02-01

    Treatment of a patient with Acquired Immune Deficiency Syndrome (AIDS) is very challenging, and makes great demands on the anaesthesiologist. Any of an AIDS patient's vital organ systems may be compromised, either by the human immunodeficiency virus (HIV) itself, opportunistic infections, by tumours, or as a result of AIDS-related drug therapies. Infections of the lungs (e.g., Pneumocystis carinii pneumonia) are prevalent, and cardiac impairment can be found in as many as 50% of AIDS patients. In addition, disorders of the central and peripheral nervous system and water and electrolyte imbalances are often seen. Perioperatively, the AIDS patient is especially prone to infections as a result of a compromised immune system. The choice of anaesthetic procedure for the AIDS patient-aside from the type of operation-depends on the severity of the illness and progression of organ impairment. All anaesthesia personnel must be careful to avoid infection, as they frequently come in contact with the blood or body fluids of their patients. However, the risk of being infected by an AIDS patient is very low, provided hygiene regulations are followed strictly. The rate of seroconversion after accidental needle-stick injury is below 1%. If exposure does occur, regular serologic controls should be continued for one year. Prophylactic treatment with azidothymidine after exposition to HIV is recommended.

  17. Successful Treatment of Cerebral Aspergillosis in a Patient with Acquired Immune Deficiency Syndrome

    PubMed Central

    Luo, J; Wang, X; Yang, Y; Lan, T; Ashraf, MA; Mao, Q

    2015-01-01

    ABSTRACT We report a case of a patient with AIDS and a brain abscess caused by aspergillus, who underwent neurosurgical excision of the lesion and received subsequent therapy with voriconazole. The patient suffered from intracranial hypertension and visual disorders. PMID:27399315

  18. Thiamine Deficiency in Self-Induced Refeeding Syndrome, an Undetected and Potentially Lethal Condition

    PubMed Central

    Hershkowitz, Einat; Reshef, Alon; Munich, Olga; Yosefi, Bracha; Markel, Arie

    2014-01-01

    Rapid restoration of nutrients and electrolytes after prolonged starvation could result in a life threatening condition characterized by sensory and neurological dysfunction and severe metabolic imbalance that has been designated as refeeding syndrome. Its diagnosis is frequently missed resulting in severe complications and even death. We describe a 25-years-old female patient with mental disorders and severe malnutrition who developed severe clinical manifestations and biochemical abnormalities characteristic of the refeeding syndrome, after restarting oral feeding on her own. Schizophrenia was later diagnosed. Increased awareness of this condition and its complications is necessary to prevent its detrimental complications. PMID:25614745

  19. Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency.

    PubMed

    Sohn, Young Bae; Ki, Chang-Seok; Park, Sung Won; Cho, Sung-Yoon; Ko, Ah-Ra; Kwon, Min-Jung; Kim, Ji-Youn; Park, Hyung-Doo; Kim, Ok-Hwa; Jin, Dong-Kyu

    2012-01-01

    Tricho-rhino-phalangeal syndrome type I (TRPSI) is a rare autosomal dominant hereditary disorder characterized by sparse hair, bulbous nose, long philtrum, thin upper lip, and skeletal abnormalities including cone-shaped epiphyses, shortening of the phalanges, and short stature. TRPSI is caused by mutations in the TRPS1 gene. Herein, we report two Korean cases of TRPSI. Although both patients (a 17-year-old-female and a 14-year-old male) had typical clinical findings, Patient 1 had an additional growth hormone (GH) deficiency. Treatment with recombinant human growth hormone (rhGH) 0.7 IU/kg/week led to an increase in growth velocity. Over 10 years of GH therapy, the mean growth velocity was 5.7 ± 0.9 cm/year. However, the patient 2 did not show apparent GH deficiency by GH stimulation test, had a poor response with rhGH therapy and GH therapy was discontinued after 6 months. Upon genetic analysis of the TRPS1 gene, two mutations were found. Patient 1 had a heterozygous mutation c.2520dupT (p.Arg841LysfsX3) which had not been previously reported. Patient 2 had a known nonsense mutation c.1630C>T (p.Arg544X). In summary, we were the first to report Korean patients with mutation of TRPS1.

  20. Short stature and growth hormone deficiency in a girl with encephalocraniocutaneous lipomatosis and Jaffe-Campanacci syndrome: a case report

    PubMed Central

    Choi, Eun mi; Jung, Nani; Shim, Ye Jee; Choi, Hee Joung; Kim, Joon Sik; Song, Kwang Soon; Lee, Hee Jung; Kim, Sang Pyo

    2016-01-01

    A 9-year-old Tajikistani girl presented to Keimyung University Dongsan Medical Center for evaluation of a skin lesion on her left eyelid, focal alopecia, unilateral ventricular dilatation, and aortic coarctation. She was diagnosed with encephalocraniocutaneous lipomatosis (ECCL) according to Moog's diagnostic criteria. Café-au-lait spots were found on the left side of her trunk. Multiple nonossifying fibromas were found on her left proximal humerus, left distal femur, both proximal tibias, and left proximal fibula, suggesting Jaffe-Campanacci syndrome (JCS), following imaging of the extremities. Many JCS cases with multiple Café-au-lait macules, multiple nonossifying fibromas may actually have Neurofibromatosis type-1 (NF1). Thus, comprehensive molecular analysis to exclude NF1 mutation was performed using her blood sample. The NF1 mutation was not found. Her height was under the 3rd percentile and her bone age was delayed as compared with her chronological age. Baseline growth hormone (GH) level was below the normal range. Using the insulin stimulation and levo-dihydroxyphenylalanine tests, GH deficiency was confirmed. We present a case of GH deficiency with typical features of ECCL and JCS. PMID:28164079

  1. Intranasal siRNA administration reveals IGF2 deficiency contributes to impaired cognition in Fragile X syndrome mice

    PubMed Central

    Pardo, Marta; Cheng, Yuyan; Velmeshev, Dmitry; Magistri, Marco; Martinez, Ana; Faghihi, Mohammad A.; Jope, Richard S.; Beurel, Eleonore

    2017-01-01

    Molecular mechanisms underlying learning and memory remain imprecisely understood, and restorative interventions are lacking. We report that intranasal administration of siRNAs can be used to identify targets important in cognitive processes and to improve genetically impaired learning and memory. In mice modeling the intellectual deficiency of Fragile X syndrome, intranasally administered siRNA targeting glycogen synthase kinase-3β (GSK3β), histone deacetylase-1 (HDAC1), HDAC2, or HDAC3 diminished cognitive impairments. In WT mice, intranasally administered brain-derived neurotrophic factor (BDNF) siRNA or HDAC4 siRNA impaired learning and memory, which was partially due to reduced insulin-like growth factor-2 (IGF2) levels because the BDNF siRNA– or HDAC4 siRNA–induced cognitive impairments were ameliorated by intranasal IGF2 administration. In Fmr1–/– mice, hippocampal IGF2 was deficient, and learning and memory impairments were ameliorated by IGF2 intranasal administration. Therefore intranasal siRNA administration is an effective means to identify mechanisms regulating cognition and to modulate therapeutic targets. PMID:28352664

  2. Prevalence, Pathophysiology, and Management of Androgen Deficiency in Men with Metabolic Syndrome, Type 2 Diabetes Mellitus, or Both.

    PubMed

    Taylor, Shawn Riser; Meadowcraft, Lindsy M; Williamson, Bobbie

    2015-08-01

    The prevalence of type 2 diabetes mellitus (T2DM) and metabolic syndrome (MetS) has increased in the United States over the past 40 years. These conditions, long linked with many cardiovascular complications, have recently been linked with androgen or testosterone deficiency in men. Several pathophysiologic hypotheses exist regarding this association, with the most widely reported a relationship to obesity and insulin resistance. Several randomized trials have confirmed that when testosterone replacement therapy is given to patients with T2DM, MetS, or both, metabolic parameters such as waist circumference, hemoglobin A1c , and systolic blood pressure are significantly reduced by up to 11 cm, 1.9%, and 23 mm Hg, respectively. This has not, however, resulted in improved cardiovascular outcomes, as evidenced in studies that found increased rates of cardiovascular events following testosterone replacement therapy. In this review, we summarize the relevant literature regarding the pathophysiology and management of androgen deficiency in men with T2DM, MetS, or both.

  3. Postnatal Proteasome Inhibition Induces Neurodegeneration and Cognitive Deficiencies in Adult Mice: A New Model of Neurodevelopment Syndrome

    PubMed Central

    Romero-Granados, Rocío; Fontán-Lozano, Ángela; Aguilar-Montilla, Francisco Javier; Carrión, Ángel Manuel

    2011-01-01

    Defects in the ubiquitin-proteasome system have been related to aging and the development of neurodegenerative disease, although the effects of deficient proteasome activity during early postnatal development are poorly understood. Accordingly, we have assessed how proteasome dysfunction during early postnatal development, induced by administering proteasome inhibitors daily during the first 10 days of life, affects the behaviour of adult mice. We found that this regime of exposure to the proteasome inhibitors MG132 or lactacystin did not produce significant behavioural or morphological changes in the first 15 days of life. However, towards the end of the treatment with proteasome inhibitors, there was a loss of mitochondrial markers and activity, and an increase in DNA oxidation. On reaching adulthood, the memory of mice that were injected with proteasome inhibitors postnatally was impaired in hippocampal and amygdala-dependent tasks, and they suffered motor dysfunction and imbalance. These behavioural deficiencies were correlated with neuronal loss in the hippocampus, amygdala and brainstem, and with diminished adult neurogenesis. Accordingly, impairing proteasome activity at early postnatal ages appears to cause morphological and behavioural alterations in adult mice that resemble those associated with certain neurodegenerative diseases and/or syndromes of mental retardation. PMID:22174927

  4. Mitochondrial DNA 8993T>G mutation in a child with ornithine transcarbamylase deficiency and leigh syndrome: an unexpected association.

    PubMed

    Henriques, Margarida; Diogo, Luísa; Garcia, Paula; Pratas, João; Simões, Marta; Grazina, Manuela

    2012-08-01

    MC, female, is the third child of a nonconsanguineous Portuguese couple, born after an uneventful pregnancy and delivery. A positive family history of ornithine transcarbamylase deficiency, associated with the IVS8+1 G>A mutation in the ornithine transcarbamylase gene, prompted prenatal diagnosis with identification of the same mutation in the proband. During an episode of Klebsiella pneumoniae sepsis at 1.5 months of age, lactic acidosis and moderate hyperammonemia were noticed. After a short asymptomatic period, progressive neurologic symptoms, with normal ammonemia, persistent hyperlactacidemia, and typical lesions in brain computed tomography (CT) scan led to a diagnosis of Leigh syndrome. Mitochondrial respiratory chain complex V was reduced in the liver. The mtDNA 8993T>G mutation was identified in the liver, muscle, and blood (82%-87% heteroplasmy). She died at 6 months of age. This case represents a benign phenotype of ornithine transcarbamylase deficiency, associated with a severe mitochondrial respiratory chain disorder due to an mtDNA pathogenic mutation.

  5. Scarcity of HIV-AIDS Risk-Reduction Materials Targeting the Needs of Older Adults among State Departments of Public Health

    ERIC Educational Resources Information Center

    Orel, Nancy A.; Wright, Jeanne M.; Wagner, Jennifer

    2004-01-01

    This study investigated the availability of printed human immunodeficiency virus/acquired immune deficiency syndrome (HIV/AIDS) education/prevention materials from state departments of public health within the United States, which specifically targeted the older adult population. Information on HIV/AIDS from public health departments in each of…

  6. Condom Advertising and AIDS. Hearing before the Subcommittee on Health and the Environment of the Committee on Energy and Commerce. House of Representatives, One Hundredth Congress, First Session.

    ERIC Educational Resources Information Center

    Congress of the U.S., Washington, DC. House Committee on Energy and Commerce.

    This document present witnesses' testimonies from the Congressional hearing called to examine condom advertising and Acquired Immune Deficiency Syndrome (AIDS). Opening statements are included by Congressmen Henry Waxman, William Dannemeyer, and Jim Bates. C. Everett Koop, United States Surgeon General, and Gary Noble, AIDS coordinator for the…

  7. Fungal exposure endocrinopathy in sinusitis with growth hormone deficiency: Dennis-Robertson syndrome.

    PubMed

    Dennis, Donald; Robertson, David; Curtis, Luke; Black, Judson

    2009-01-01

    A retrospective study was carried out on 79 patients with a history of mold exposure, fatigue, and chronic rhinosinusitis (CRS) to determine whether there is a causal relationship between fungal exposure and chronic sinusitis, fatigue, and anterior hypopituitarism, especially growth hormone deficiency (GHD). Of the patients, 94% had a history of CRS, endoscopically and/or computed tomography (CT) confirmed; 100% had chronic fatigue and 100% had either significant history of indoor mold exposure and/or positive mold plate testing as measured by settle plates, with an average colony count of 21 (0-4 normal). A total of 62 had positive mold plate testing and 17 had positive history of mold exposure. Of 75, 73 (97.3%) had positive serum immunoglobulin G (IgG)-specific antibodies to fungal antigens. Out of 8, 7 were positive for urinary trichothecenes. Resting levels of insulin-like growth factor 1 (IGF-1) averaged 123 ng/mL (range 43-285, normal 88-249 ng/mL). Despite normal resting levels of IGF-1, significant deficiency of serum human growth hormone (GH) was confirmed by insulin tolerance test (ITT) in 40 of 50 tested. In all, 51% (40/79) were GH deficient. Primary or secondary hypothyroidism in T3 and/or T4 was seen in 81% (64/79) patients; 75% (59/79) had adrenocorticotrophic hormone (ACTH) deficiency. Fungal exposure endocrinopathy likely represents the major cause of GHD, affecting approximately 4.8 million people compared to approximately known 60,000 cases from all other causes. A literature review indicates a possible mechanism of GHD in fungal exposure is that the fungal glucan receptors in the lenticulostellate cells of the anterior pituitary bind to fungal cells wall glucans and activate the innate immune system, which activates macrophages that destroy the fungus and lenticulostellate tissue. Treatment of patients included normal saline nasal irrigations, antifungal and antibiotic nasal sprays, appropriate use of oral antibiotics and antifungals, facial

  8. Posterior Cord Syndrome and Trace Elements Deficiency as an Uncommon Presentation of Common Variable Immunodeficiency

    PubMed Central

    dos Santos Mota, Ananda; Morais Monteiro, Priscila; Carvalho, Angela Cristina Gouvêa; Fernandes Diniz, Barbara; Gemal Lanzieri, Pedro; Carneiro Ramos, Ricardo; Mocarzel, Luis Otavio

    2017-01-01

    Diarrhea is one of the most common symptoms in common variable immunodeficiency, but neurologic manifestations are rare. We presented a 50-year-old woman with recurrent diarrhea and severe weight loss that developed a posterior cord syndrome. Endoscopy found a duodenal villous blunting, intraepithelial lymphocytosis, and lack of plasma cells and magnetic resonance imaging of the spine was normal. Laboratory assays confirmed common variable immunodeficiency syndrome and showed low levels of trace elements (copper and zinc). Treatment was initiated with parenteral replacement of trace elements and intravenous human immunoglobulin and the patient improved clinically. In conclusion, physicians must be aware that gastrointestinal and neurologic disorders may be related to each other and remember to request trace elements laboratory assessment. PMID:28356913

  9. MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function

    PubMed Central

    Grill, Christine; Bergsteinsdóttir, Kristín; Ögmundsdóttir, Margrét H.; Pogenberg, Vivian; Schepsky, Alexander; Wilmanns, Matthias; Pingault, Veronique; Steingrímsson, Eiríkur

    2013-01-01

    The basic-helix–loop–helix-leucine zipper (bHLHZip) protein MITF (microphthalmia-associated transcription factor) is a master regulator of melanocyte development. Mutations in the MITF have been found in patients with the dominantly inherited hypopigmentation and deafness syndromes Waardenburg syndrome type 2A (WS2A) and Tietz syndrome (TS). Additionally, both somatic and germline mutations have been found in MITF in melanoma patients. Here, we characterize the DNA-binding and transcription activation properties of 24 MITF mutations found in WS2A, TS and melanoma patients. We show that most of the WS2A and TS mutations fail to bind DNA and activate expression from melanocyte-specific promoters. Some of the mutations, especially R203K and S298P, exhibit normal activity and may represent neutral variants. Mutations found in melanomas showed normal DNA-binding and minor variations in transcription activation properties; some showed increased potential to form colonies. Our results provide molecular insights into how mutations in a single gene can lead to such different phenotypes. PMID:23787126

  10. HIV/AIDS

    MedlinePlus

    ... at risk for serious infections and certain cancers. AIDS stands for acquired immunodeficiency syndrome. It is the final stage of infection with HIV. Not everyone with HIV develops AIDS. HIV most often spreads through unprotected sex with ...

  11. Knowing Both: Towards Integrating Two Main Approaches to the Tertiary Education of Health Care Workers Involved in Caring for People Living with HIV/AIDS. A Needs Assessment of HIV/AIDS Tertiary Education for Health Care Workers in Metropolitan South Australia.

    ERIC Educational Resources Information Center

    Elsey, Barry; Mills, Patricia

    The need for continuing education about human immunodeficiency virus/acquired immune deficiency syndrome (HIV/AIDS) was assessed for health care workers in metropolitan South Australia. Seventeen focus group discussions were held to solicit the views and experiences of various persons regarding HIV/AIDS tertiary education. Included in the…

  12. Gallium scanning in lymphoid interstitial pneumonitis of children with AIDS

    SciTech Connect

    Schiff, R.G.; Kabat, L.; Kamani, N.

    1987-12-01

    Lymphoid interstitial pneumonitis (LIP) is a frequent pulmonary complication in the child with the acquired immune deficiency syndrome (AIDS) and human immunodeficiency virus (HIV) infection. We report the gallium scan findings in two children with AIDS and LIP. Gallium scintigraphy in both children demonstrated increased radionuclide concentration throughout the lungs, a pattern indistinguishable scintigraphically from that of Pneumocystis carinii pneumonia (PCP). This should alert nuclear medicine practitioners and referring physicians to another cause of diffusely increased gallium uptake in the lungs of patients with AIDS.

  13. [Characterization of Cryptococcus neoformans strains isolated from patients with acquired immunodeficiency syndrome (AIDS)].

    PubMed

    Garza-Garza, D; Buendía-Uribe, J L; Martínez-Cruz, E; Argüero-Licea, B

    1995-01-01

    In Mexico cryptococosis ranks third in frequency among the mycoses ocurring as complications in AIDS patients. Neither the prevalence of the two varieties of C. neoformans in these patients nor the morphological and physiological changes suffered by these strains in AIDS patients are known. A total of 60 isolates were obtained from patients with AIDS from the Hospital de Infectología, Centro Médico "La Raza" IMSS. The identity of each isolate was established by: growth at 37 degrees C, colony and microscopic characteristics, urease and phenoloxidase activity, carbon sources assimilation. The canavanine glycine-bromothymol blue agar was used to distinguish C. neoformans var. neoformans and C. neoformans var. gattii. Pathogenicity in mice was also tested. Fifty one isolates of C. neoformans var. neoformans and nine of C. neoformans var. gattii were identified. All strains grew well at 37 degrees C, urease and phenoloxidase were positive, the morphology and the auxanographic profile were variable. C. neoformans var. neoformans was more virulent in mouse than C. neoformans var. gattii. This study has confirmed the presence of the two varieties of C. neoformans in Mexico with 85% prevalence of var. neoformans and 15% of var. gattii in AIDS patients. This frequency was higher than in reports from other countries.

  14. [Prehospital stage of medical aid to patients with acute coronary syndrome and elevated ST segment].

    PubMed

    Vertkin, A L; Morozov, S N; Fedorov, A I

    2013-01-01

    We studied effect of time on the outcome of acute coronary syndrome and elevated ST segment at the prehospital stage. Logistic regression analysis revealed two time-dependent predictors: "symptom-needle" time and total call service time. In patients undergoing prehospital thrombolysis, these indices (88 and 85 min respectively) reliably predicted the probability of fatal outcome. Their values of 71 and 77 min respectively predicted the risk of unfavourable outcome. The total call service time may serve as an indicator of the quality of work of an ambulance crew at the prehospital stage of management of acute coronary syndrome with elevated ST segment.

  15. The Role of Color Cues in Facilitating Accurate and Rapid Location of Aided Symbols by Children with and without Down Syndrome

    ERIC Educational Resources Information Center

    Wilkinson, Krista; Carlin, Michael; Thistle, Jennifer

    2008-01-01

    Purpose: This research examined how the color distribution of symbols within a visual aided augmentative and alternative communication array influenced the speed and accuracy with which participants with and without Down syndrome located a target picture symbol. Method: Eight typically developing children below the age of 4 years, 8 typically…

  16. Mechanical assessment of elastin integrity in fibrillin-1-deficient carotid arteries: implications for Marfan syndrome

    PubMed Central

    Ferruzzi, Jacopo; Collins, Melissa J.; Yeh, Alvin T.; Humphrey, Jay D.

    2011-01-01

    Aims Elastin is the primary component of elastic fibres in arteries, which contribute significantly to the structural integrity of the wall. Fibrillin-1 is a microfibrillar glycoprotein that appears to stabilize elastic fibres mechanically and thereby to delay a fatigue-induced loss of function due to long-term repetitive loading. Whereas prior studies have addressed some aspects of ageing-related changes in the overall mechanical properties of arteries in mouse models of Marfan syndrome, we sought to assess for the first time the load-carrying capability of the elastic fibres early in maturity, prior to the development of ageing-related effects, dilatation, or dissection. Methods and results We used elastase to degrade elastin in common carotid arteries excised, at 7–9 weeks of age, from a mouse model (mgR/mgR) of Marfan syndrome that expresses fibrillin-1 at 15–25% of normal levels. In vitro biaxial mechanical tests performed before and after exposure to elastase suggested that the elastic fibres exhibited a nearly normal load-bearing capability. Observations from nonlinear optical microscopy suggested further that competent elastic fibres not only contribute to load-bearing, they also increase the undulation of collagen fibres, which endows the normal arterial wall with a more compliant response to pressurization. Conclusion These findings support the hypothesis that it is an accelerated fatigue-induced damage to or protease-related degradation of initially competent elastic fibres that render arteries in Marfan syndrome increasingly susceptible to dilatation, dissection, and rupture. PMID:21730037

  17. Technetium-99m DTPA aerosol and gallium scanning in acquired immune deficiency syndrome

    SciTech Connect

    Picard, C.; Meignan, M.; Rosso, J.; Cinotti, L.; Mayaud, C.; Revuz, J.

    1987-07-01

    In 11 non-smoking AIDS patients suspected of pneumocystis carinii pneumonia (PCP), the results of Tc-99m DTPA aerosol clearances, gallium scans, and arterial blood gases were compared with those of bronchoalveolar lavage (BAL). Nine patients had PCP. All had increased clearances five times higher than the normal (5.6 +/- 2.3% X min-1 vs 1.1 +/- 0.34% X min-1, N = 10, P less than 0.001), suggesting an increased alveolar permeability. Gallium scans were abnormal in six patients but normal or slightly abnormal in the three others. Four of these nine patients had normal chest x-rays. In two of these the gallium scan was abnormal, but in the two others, only the increased Tc-99m DTPA clearances showed evidence of lung disease. Two patients had normal BAL, with normal clearances and gallium scans. Four out of the nine patients with PCP were studied after treatment. Three recovered and had normal clearance and gallium scans. One still had PCP with increased clearance but normal gallium scan. Gallium scanning and Tc-99m DTPA clearance are useful for detecting lung disease in AIDS patients with suspected PCP and for prompting BAL when chest x-rays and PaO/sub 2/ levels are normal. Due to its high sensitivity, a normal Tc-99m DTPA clearance could avoid BAL.

  18. Functional rescue of Kallmann syndrome-associated prokineticin receptor 2 (PKR2) mutants deficient in trafficking.

    PubMed

    Chen, Dan-Na; Ma, Yan-Tao; Liu, Huadie; Zhou, Qun-Yong; Li, Jia-Da

    2014-05-30

    Mutations in the G protein-coupled prokineticin receptor 2 (PKR2) are known to cause Kallmann syndrome and idiopathic hypogonadotropic hypogonadism manifesting with delayed puberty and infertility. Some of the mutant receptors are not routed to the cell surface; instead, they are trapped in the cellular secretory pathway. The cell-permeant agonists/antagonists have been used to rescue some membrane receptors that are not targeted onto the cell membrane. Here, we chose three disease-associated mutations (W178S, G234D, and P290S), which all resulted in retention of PKR2 intracellularly. We show that a small molecule PKR2 antagonist (A457) dramatically increased cell surface expression and rescued the function of P290S PKR2, but had no effect on W178S and G234D PKR2. Furthermore, we also tested chemical chaperone glycerol on the cell surface expression and function of PKR2 mutants. Treatment with 10% glycerol significantly increased the cell surface expression and signaling of P290S and W178S PKR2. These data demonstrate that some Kallmann syndrome-associated, intracellularly retained mutant PKR2 receptors can be functionally rescued, suggesting a potential treatment strategy for patients bearing such mutations.

  19. A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome

    PubMed Central

    Lim, Sze Chern; Smith, Katherine R.; Stroud, David A.; Compton, Alison G.; Tucker, Elena J.; Dasvarma, Ayan; Gandolfo, Luke C.; Marum, Justine E.; McKenzie, Matthew; Peters, Heidi L.; Mowat, David; Procopis, Peter G.; Wilcken, Bridget; Christodoulou, John; Brown, Garry K.; Ryan, Michael T.; Bahlo, Melanie; Thorburn, David R.

    2014-01-01

    Leigh syndrome (LS) is a severe neurodegenerative disorder with characteristic bilateral lesions, typically in the brainstem and basal ganglia. It usually presents in infancy and is genetically heterogeneous, but most individuals with mitochondrial complex IV (or cytochrome c oxidase) deficiency have mutations in the biogenesis factor SURF1. We studied eight complex IV-deficient LS individuals from six families of Lebanese origin. They differed from individuals with SURF1 mutations in having seizures as a prominent feature. Complementation analysis suggested they had mutation(s) in the same gene but targeted massively parallel sequencing (MPS) of 1,034 genes encoding known mitochondrial proteins failed to identify a likely candidate. Linkage and haplotype analyses mapped the location of the gene to chromosome 19 and targeted MPS of the linkage region identified a homozygous c.3G>C (p.Met1?) mutation in C19orf79. Abolishing the initiation codon could potentially still allow initiation at a downstream methionine residue but we showed that this would not result in a functional protein. We confirmed that mutation of this gene was causative by lentiviral-mediated phenotypic correction. C19orf79 was recently renamed PET100 and predicted to encode a complex IV biogenesis factor. We showed that it is located in the mitochondrial inner membrane and forms a ∼300 kDa subcomplex with complex IV subunits. Previous proteomic analyses of mitochondria had overlooked PET100 because its small size was below the cutoff for annotating bona fide proteins. The mutation was estimated to have arisen at least 520 years ago, explaining how the families could have different religions and different geographic origins within Lebanon. PMID:24462369

  20. [Epidemiology of HIV infection and acquired immune deficiency disease syndrome in Chile].

    PubMed

    Martínez G, Paulina; Olea N, Andrea; Chiu A, Mónica

    2006-12-01

    Since 1984 to December 2004, 14.611 HIV/AIDS cases (85% in males) have been reported to the Chilean surveillance system. This figure represents an incidence of 103 x 10(5) inhabitants. The epidemic affects mainly men in their active working and sexual age. The main risk factor for infection, has been the sexual contact. Universal access to antiretroviral therapy (ART) has changed the epidemic trend. In 1997 bi-therapy and in 2003 three-drug therapy (HAART) were implemented. Mortality was 2,4 cases x 10(5) inhabitants during 2004, with a 67% reduction since 1984. Vertical transmission has been significantly reduced, as a result of implementing since 1995 a preventive strategy that benefits seropositive women and their newborn infant. Local experts are preparing an electronic registration system in order to optimize resources and to accede to statistics in a real time.

  1. Risk of Cataract among Subjects with the Acquired Immune Deficiency Syndrome Free of Ocular Opportunistic Infections

    PubMed Central

    Kempen, John H.; Sugar, Elizabeth A.; Varma, Rohit; Dunn, James P.; Heinemann, Murk-Hein; Jabs, Douglas A.; Lyon, Alice T.; Lewis, Richard A.

    2014-01-01

    Purpose To evaluate the risk of cataract in the setting of AIDS. Design Prospective cohort study. Participants Subjects with AIDS free of ocular opportunistic infections throughout catamnesis. Methods During 1998–2008 inclusive, subjects ≥13 years of age were enrolled. Demographic characteristics and clinical characteristics were documented at enrollment and semiannually. Main Outcome Measures Cataract was defined as high-grade lens opacity observed by biomicroscopy and judged to be the cause of a best-corrected visual acuity worse than 20/40. Eyes that underwent cataract surgery during follow-up were considered to have developed cataract prior to the first visit when pseudophakia or aphakia was observed. Results Among 1,606 participants (3,212 eyes), at enrollment 1.9% (95% confidence interval (CI): 1.3%−2.7%) were observed to have cataract or prior cataract surgery. Among the 2,812 eyes initially free of cataract, and followed longitudinally (median follow-up=4.6 years), the incidence of cataract was 0.37%/eye-year (95% CI: 0.26%– 0.53%). In addition to age, significant cataract risk factors included prior cataract in the contralateral eye (adjusted hazard ratio (aHR)=21.6, 95% CI: 10.4–44.8), anterior segment inflammation (aHR=4.40, 95% CI: 1.64–11.9), prior retinal detachment (aHR=4.94, 95% CI: 2.21–11.0), and vitreous inflammation (aHR=7.12, 95% CI: 2.02– 25.0), each studied as a time-updated characteristic. Detectable HIV RNA in peripheral blood was associated with lower risk of cataract at enrollment (adjusted odds ratio=0.32, 95% CI: 0.12–0.80) but not of incident cataract (aHR=1.58, 95% CI: 0.90–2.76). After adjustment for other factors, neither the then current absolute CD4+ T cell count nor antiretroviral therapy status showed consistent association with cataract risk, nor did an additive diagnosis of other other co-morbidities. Compared to the available population-based studies that used similar definitions of cataract, the age

  2. Disseminated cryptococcosis and fluconazole resistant oral candidiasis in a patient with acquired immunodeficiency syndrome (AIDS).

    PubMed

    Kothavade, Rajendra J; Oberai, Chetan M; Valand, Arvind G; Panthaki, Mehroo H

    2010-10-28

    Disseminated cryptococcosis and recurrent oral candidiasis was presented in a-heterosexual AIDS patient. Candida tropicalis (C.tropicalis) was isolated from the oral pseudomembranous plaques and Cryptococcus neoformans (C. neoformans) was isolated from maculopapular lesions on body parts (face, hands and chest) and body fluids (urine, expectorated sputum, and cerebrospinal fluid). In vitro drug susceptibility testing on the yeast isolates demonstrated resistance to fluconazole acquired by C. tropicalis which was a suggestive possible root cause of recurrent oral candidiasis in this patient.

  3. Acquired immune deficiency syndrome and systemic lupus erythematosis: potential causes of surgical emergencies of the hand.

    PubMed

    Wirth, Johnny J; Sheka, Kedambady P; Gheewala, Anup; Rowe, Norman M

    2008-07-01

    Compartment Syndrome (CS) is a disease that has 2 etiologies, that of acute events and that of chronic. It occurs when the pressure in a fascia-encased compartment exceeds the profusion pressure in tissue. The end result, when left untreated, is muscle and nerve ischemia that can cause significant morbidity. Nerve paralysis, muscle necrosis and fibrosis and, when occurring in an extremity, loss of the limb are some of the potential outcomes of missed diagnosis. This case series involves 2 cases of CS that where caused by vasculitis with etiologies of human immunodeficiency virus and systemic lupus erythematosis. Autoimmune vasculitis has many systemic and local manifestations, but to our knowledge CS has not been described as one of its sequelae. The following is literature review and presentation of these 2 cases.

  4. [Molecular basis of HLA class-I deficiency and bare lymphocyte syndrome (BLS)].

    PubMed

    Dzik, Michał; Majdan, Maria

    2005-01-01

    Molecules of human leukocyte HLA class I antigens play a crucial role in the presentation of endogenic peptides, allowing effector cells of the immune system to control the immune homeostasis of the host. There are rare immunodeficiencies which result in impaired HLA antigen expression on cell membranes and which are called bare lymphocyte syndrome (BLS). These diseases allow us to gain insight into the roles of antigen-processing pathways in HLA class I expression and into the genetic disorders of transcription factors crucial to the expression of HLA class II molecules. Moreover, the clinical pictures of BLS patients provide us with a rare opportunity to study the host's immune responses when one of the most important immune mechanisms is impaired. In this study we present disorders of endogenic antigen-presentation pathways and point out pathways which, at least in part, allow the host to overcome these defects. We also present hypotheses that may explain the clinical findings in BLS patients.

  5. Detection of AIDS Virus in Macrophages in Brain Tissue from AIDS Patients with Encephalopathy

    NASA Astrophysics Data System (ADS)

    Koenig, Scott; Gendelman, Howard E.; Orenstein, Jan M.; Canto, Mauro C.; Pezeshkpour, Gholam H.; Yungbluth, Margaret; Janotta, Frank; Aksamit, Allen; Martin, Malcolm A.; Fauci, Anthony S.

    1986-09-01

    One of the common neurological complications in patients with the acquired immune deficiency syndrome (AIDS) is a subacute encephalopathy with progressive dementia. By using the techniques of cocultivation for virus isolation, in situ hybridization, immunocytochemistry, and transmission electron microscopy, the identity of an important cell type that supports replication of the AIDS retrovirus in brain tissue was determined in two affected individuals. These cells were mononucleated and multinucleated macrophages that actively synthesized viral RNA and produced progeny virions in the brains of the patients. Infected brain macrophages may serve as a reservoir for virus and as a vehicle for viral dissemination in the infected host.

  6. Urinary iron loss in the nephrotic syndrome--an unusual cause of iron deficiency with a note on urinary copper losses.

    PubMed Central

    Brown, E. A.; Sampson, B.; Muller, B. R.; Curtis, J. R.

    1984-01-01

    Two patients with long-standing nephrotic syndrome are described in whom urinary iron losses may have contributed towards an iron deficiency state. Seven other nephrotic patients were also studied. Increased urinary iron excretion was found in six out of nine patients and increased urinary copper excretion in all eight patients in whom it was measured. Trace metal losses in the urine in nephrotics may be important clinically. PMID:6709543

  7. Antibody deficiency and autoimmunity in 22q11.2 deletion syndrome

    PubMed Central

    Gennery, A; Barge, D; O'Sullivan, J; Flood, T; Abinun, M; Cant, A

    2002-01-01

    Background: Although severe T cell immunodeficiency in DiGeorge anomaly is rare, previous studies of humoral function in these patients have found no antibody abnormalities but have not examined the response to polysaccharide antigens. Isolated cases of autoimmunity have been reported. Several patients with 22q11.2 deletion attending our immunology clinic suffered recurrent sinopulmonary infection or autoimmune phenomena. Aims: To investigate humoral immunodeficiency, particularly pneumococcal polysaccharide antibody deficiency, and autoimmune phenomena in a cohort of patients with 22q11.2 deletion. Methods: A history of severe or recurrent infection and autoimmune symptoms were noted. Lymphocyte subsets, immunoglobulins, IgG subclasses, specific vaccine antibodies, and autoantibodies were measured. Subjects were vaccinated with appropriate antigens as indicated. Results: Of 32 patients identified, 26 (81%) had severe or recurrent infection, of which 13 (50%) had abnormal serum immunoglobulin measurements and 11/20 ≥4 years old (55%) had an abnormal response to pneumococcal polysaccharide. Ten of 30 patients (33%) had autoimmune phenomena; six (20%) were symptomatic. Conclusions: Humoral immunodeficiency is more common than previously recognised in patients with 22q11.2 deletion. Normal T cell function and immunoglobulin levels do not exclude poor specific antibody responses. Patients should be referred for formal immunological assessment of cellular and humoral immune function. PMID:12023174

  8. Deficiency in endogenous modulation of prolonged heat pain in patients with Irritable Bowel Syndrome and Temporomandibular Disorder.

    PubMed

    King, Christopher D; Wong, Fong; Currie, Tom; Mauderli, Andre P; Fillingim, Roger B; Riley, Joseph L

    2009-06-01

    Females with Irritable Bowel Syndrome (IBS) and Temporomandibular Disorder (TMD) are characterized by enhanced sensitivity to experimental pain. One possible explanation for this observation is deficiencies in pain modulation systems such as Diffuse Noxious Inhibitory Control (DNIC). In a few studies that used brief stimuli, chronic pain patients demonstrate reduced DNIC. The purpose of this study was to compare sensitivity to prolonged heat pain and the efficacy of DNIC in controls to IBS and TMD patients. Heat pain (experimental stimulus; 44.0-49.0 degrees C), which was applied to left palm, was continuously rated during three 30-s trials across three separate testing sessions under the following conditions: without a conditioning stimulus; during concurrent immersion of the right foot in a 23.0 degrees C (control); and during noxious cold immersion in a (DNIC; 8.0-16.0 degrees C) water bath. Compared to controls, IBS and TMD patients reported an increased sensitivity to heat pain and failed to demonstrate pain inhibition due to DNIC. Controls showed a significant reduction in pain during the DNIC session. These findings support the idea that chronic pain patients are not only more pain sensitive but also demonstrate reduced pain inhibition by pain, possibly because of dysfunction of endogenous pain inhibition systems.

  9. Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency

    PubMed Central

    Fuchs, Sebastian; Rensing-Ehl, Anne; Pannicke, Ulrich; Lorenz, Myriam R.; Fisch, Paul; Jeelall, Yogesh; Rohr, Jan; Speckmann, Carsten; Vraetz, Thomas; Farmand, Susan; Schmitt-Graeff, Annette; Krüger, Marcus; Strahm, Brigitte; Henneke, Philipp; Enders, Anselm; Horikawa, Keisuke; Goodnow, Christopher; Schwarz, Klaus

    2015-01-01

    Omenn syndrome (OS) is a severe immunodeficiency associated with erythroderma, lymphoproliferation, elevated IgE, and hyperactive oligoclonal T cells. A restricted T-cell repertoire caused by defective thymic T-cell development and selection, lymphopenia with homeostatic proliferation, and lack of regulatory T cells are considered key factors in OS pathogenesis. We report 2 siblings presenting with cytomegalovirus (CMV) and Pneumocystis jirovecii infections and recurrent sepsis; one developed all clinical features of OS. Both carried homozygous germline mutations in CARD11 (p.Cys150*), impairing NF-κB signaling and IL-2 production. A somatic second-site mutation reverting the stop codon to a missense mutation (p.Cys150Leu) was detected in tissue-infiltrating T cells of the OS patient. Expression of p.Cys150Leu in CARD11-deficient T cells largely reconstituted NF-κB signaling. The reversion likely occurred in a prethymic T-cell precursor, leading to a chimeric T-cell repertoire. We speculate that in our patient the functional advantage of the revertant T cells in the context of persistent CMV infection, combined with lack of regulatory T cells, may have been sufficient to favor OS. This first observation of OS in a patient with a T-cell activation defect suggests that severely defective T-cell development or homeostatic proliferation in a lymphopenic environment are not required for this severe immunopathology. PMID:26289640

  10. Calpain 1 inhibitor BDA-410 ameliorates α-klotho-deficiency phenotypes resembling human aging-related syndromes

    PubMed Central

    Nabeshima, Yoko; Washida, Miwa; Tamura, Masaru; Maeno, Akiteru; Ohnishi, Mutsuko; Shiroishi, Toshihiko; Imura, Akihiro; Razzaque, M. Shawkat; Nabeshima, Yo-ichi

    2014-01-01

    Taking good care of elderly is a major challenge of our society, and thus identification of potential drug targets to reduce age-associated disease burden is desirable. α-klotho-/- (α-kl) is a short-lived mouse model that displays multiple phenotypes resembling human aging-related syndromes. Such ageing phenotype of α-kl-/- mice is associated with activation of a proteolytic enzyme, Calpain-1. We hypothesized that uncontrolled activation of calpain-1 might be causing age-related phenotypes in α-kl-deficient mice. We found that daily administration of BDA-410, a calpain-1 inhibitor, strikingly ameliorated multiple aging-related phenotypes. Treated mice showed recovery of reproductive ability, increased body weight, reduced organ atrophy, and suppression of ectopic calcifications, bone mineral density reduction, pulmonary emphysema and senile atrophy of skin. We also observed ectopic expression of FGF23 in calcified arteries of α-kl-/- mice, which might account for the clinically observed association of increased FGF23 level with increased risk of cardiovascular mortality. These findings allow us to propose that modulation of calpain-1 activity is a potential therapeutic option for delaying age-associated organ pathology, particularly caused by the dysregulation of mineral ion homeostasis. PMID:25080854

  11. Biotin deficiency and the development of the fatty liver and kidney syndrome in chickens: an ultrastructural study.

    PubMed

    Bain, J M

    1977-04-01

    The structure of the tissue from the liver, kidneys, pancreas and adrenal glands of 4-week-old chickens showing symptoms of the fatty liver and kidney syndrome (FLKS) was compared with that of normal tissue and related to the amount of biotin present in the liver tissue. These birds were reared with different levels of dietary biotin and were stressed by removal of food before being killed. Birds with less than 1-5 microgram biotin/g liver were considered to be deficient in biotin. In the stressed birds the severity of FLKS increased with decreasing levels of biotin. No lesions were found in the liver and kidney tissue of the birds with severe FLKS. Large quantities of fat were accumulated in the hepatocytes and intercellular spaces of the liver tissue, but the cell contents were not disorganized. In the kidney, conspicuous fat accumulation occurred in the proximal convoluted tubule cells and some ultrastructural disorganization of the cell contents was evident. No structural changes were found in the tissue of the pancreas or the adrenal glands of chickens suffering from severe FLKS.

  12. A Protein Kinase C phosphorylation motif in GLUT1 affects glucose transport and is mutated in GLUT1 deficiency syndrome

    PubMed Central

    Lee, Eunice E.; Ma, Jing; Sacharidou, Anastasia; Mi, Wentao; Salato, Valerie K.; Nguyen, Nam; Jiang, Youxing; Pascual, Juan M.; North, Paula E.; Shaul, Philip W.; Mettlen, Marcel; Wang, Richard C.

    2015-01-01

    Summary Protein Kinase C has been implicated in the phosphorylation of the erythrocyte/brain glucose transporter, GLUT1, without a clear understanding of the site(s) of phosphorylation and the possible effects on glucose transport. Through in-vitro kinase assays, mass spectrometry, and phosphospecific antibodies, we identify Serine 226 in GLUT1 as a PKC phosphorylation site. Phosphorylation of S226 is required for the rapid increase in glucose uptake and enhanced cell surface localization of GLUT1 induced by the phorbol ester 12-O-tetradecanoyl-phorbol-13-acetate (TPA). Endogenous GLUT1 is phosphorylated on S226 in primary endothelial cells in response to TPA or VEGF. Several naturally-occurring, pathogenic mutations that cause GLUT1 deficiency syndrome disrupt this PKC phosphomotif, impair the phosphorylation of S226 in vitro, and block TPA-mediated increases in glucose uptake. We demonstrate that the phosphorylation of GLUT1 on S226 regulates glucose transport and propose that this modification is important in the physiological regulation of glucose transport. PMID:25982116

  13. A Protein Kinase C Phosphorylation Motif in GLUT1 Affects Glucose Transport and is Mutated in GLUT1 Deficiency Syndrome.

    PubMed

    Lee, Eunice E; Ma, Jing; Sacharidou, Anastasia; Mi, Wentao; Salato, Valerie K; Nguyen, Nam; Jiang, Youxing; Pascual, Juan M; North, Paula E; Shaul, Philip W; Mettlen, Marcel; Wang, Richard C

    2015-06-04

    Protein kinase C has been implicated in the phosphorylation of the erythrocyte/brain glucose transporter, GLUT1, without a clear understanding of the site(s) of phosphorylation and the possible effects on glucose transport. Through in vitro kinase assays, mass spectrometry, and phosphospecific antibodies, we identify serine 226 in GLUT1 as a PKC phosphorylation site. Phosphorylation of S226 is required for the rapid increase in glucose uptake and enhanced cell surface localization of GLUT1 induced by the phorbol ester 12-O-tetradecanoyl-phorbol-13-acetate (TPA). Endogenous GLUT1 is phosphorylated on S226 in primary endothelial cells in response to TPA or VEGF. Several naturally occurring, pathogenic mutations that cause GLUT1 deficiency syndrome disrupt this PKC phosphomotif, impair the phosphorylation of S226 in vitro, and block TPA-mediated increases in glucose uptake. We demonstrate that the phosphorylation of GLUT1 on S226 regulates glucose transport and propose that this modification is important in the physiological regulation of glucose transport.

  14. Creatine and guanidinoacetate content of human milk and infant formulas: implications for creatine deficiency syndromes and amino acid metabolism.

    PubMed

    Edison, Erica E; Brosnan, Margaret E; Aziz, Khalid; Brosnan, John T

    2013-09-28

    Creatine is essential for normal neural development; children with inborn errors of creatine synthesis or transport exhibit neurological symptoms such as mental retardation, speech delay and epilepsy. Creatine accretion may occur through dietary intake or de novo creatine synthesis. The objective of the present study was to determine how much creatine an infant must synthesise de novo. We have calculated how much creatine an infant needs to account for urinary creatinine excretion (creatine's breakdown product) and new muscle lay-down. To measure an infant's dietary creatine intake, we measured creatine in mother's milk and in various commercially available infant formulas. Knowing the amount of milk/formula ingested, we calculated the amount of creatine ingested. We have found that a breast-fed infant receives about 9 % of the creatine needed in the diet and that infants fed cows' milk-based formula receive up to 36 % of the creatine needed. However, infants fed a soya-based infant formula receive negligible dietary creatine and must rely solely on de novo creatine synthesis. This is the first time that it has been shown that neonatal creatine accretion is largely due to de novo synthesis and not through dietary intake of creatine. This has important implications both for infants suffering from creatine deficiency syndromes and for neonatal amino acid metabolism.

  15. Brain microvasculature defects and Glut1 deficiency syndrome averted by early repletion of the glucose transporter-1 protein

    PubMed Central

    Tang, Maoxue; Gao, Guangping; Rueda, Carlos B.; Yu, Hang; Thibodeaux, David N.; Awano, Tomoyuki; Engelstad, Kristin M.; Sanchez-Quintero, Maria-Jose; Yang, Hong; Li, Fanghua; Li, Huapeng; Su, Qin; Shetler, Kara E.; Jones, Lynne; Seo, Ryan; McConathy, Jonathan; Hillman, Elizabeth M.; Noebels, Jeffrey L.; De Vivo, Darryl C.; Monani, Umrao R.

    2017-01-01

    Haploinsufficiency of the SLC2A1 gene and paucity of its translated product, the glucose transporter-1 (Glut1) protein, disrupt brain function and cause the neurodevelopmental disorder, Glut1 deficiency syndrome (Glut1 DS). There is little to suggest how reduced Glut1 causes cognitive dysfunction and no optimal treatment for Glut1 DS. We used model mice to demonstrate that low Glut1 protein arrests cerebral angiogenesis, resulting in a profound diminution of the brain microvasculature without compromising the blood–brain barrier. Studies to define the temporal requirements for Glut1 reveal that pre-symptomatic, AAV9-mediated repletion of the protein averts brain microvasculature defects and prevents disease, whereas augmenting the protein late, during adulthood, is devoid of benefit. Still, treatment following symptom onset can be effective; Glut1 repletion in early-symptomatic mutants that have experienced sustained periods of low brain glucose nevertheless restores the cerebral microvasculature and ameliorates disease. Timely Glut1 repletion may thus constitute an effective treatment for Glut1 DS. PMID:28106060

  16. AIDS/HIV-Related Knowledge, Attitudes, and Risk Behavior. Minnesota Student Survey Report, 1989.

    ERIC Educational Resources Information Center

    Minnesota State Dept. of Education, St. Paul.

    The Minnesota Student Survey, including questions on Acquired Immune Deficiency Syndrome (AIDS) virus transmission and sexual activity, was completed by approximately 88,000 6th-, 9th-, and 12th-graders during the 1988-89 school year. Sexual activity questions were not asked of sixth graders. Over 90% of high school students knew about sharing…

  17. Act Smart. HIV/AIDS Education Curriculum for Three Age Groups.

    ERIC Educational Resources Information Center

    American National Red Cross, Washington, DC.

    This Human Immunodeficiency Virus/Acquired Immune Deficiency Syndrome (HIV/AIDS) education curriculum was developed for boys and girls, ages 6 to 17 years. It is a supplement to a similar program, "SMART Moves," aimed at prevention of drug abuse and premature sexual activity. The Act SMART prevention team should consist of a staff…

  18. Health Educators in the Workplace: Helping Companies Respond to the AIDS Crisis.

    ERIC Educational Resources Information Center

    Bauman, Laurie J.; Aberth, John

    1986-01-01

    This article identifies various dimensions of the AIDS (Acquired Immune Deficiency Syndrome)-related issues emerging in corporations nationwide, including confidentiality, the right of patients to work, benefits and insurance, HTLV-III (Human T-Lymphotropic Type III) screening, fears of contagion among workers, needs of companies to avoid…

  19. Assessing Riverside Community College Nursing Student Attitudes toward Exposure to AIDS/HIV-Positive Patients.

    ERIC Educational Resources Information Center

    Kross, Carolyn Sue

    In fall 1990, a study was conducted to assess the attitudes of nursing students who were attending Riverside Community College (RCC), in California, toward exposure to Acquired Immune Deficiency Syndrome/Human Immunodeficiency Virus (AIDS/HIV) positive patients in a hospital setting. All students enrolled in RCC's associate degree nursing program…

  20. Guidelines for Counselling about HIV Infection and Disease. WHO AIDS Series 8.

    ERIC Educational Resources Information Center

    World Health Organization, Geneva (Switzerland).

    The present guidelines have been prepared to provide counselors, health care workers, and others with a model for use in counseling people affected directly or indirectly by Human Immunodeficiency Virus (HIV) infection and Acquired Immune Deficiency Syndrome (AIDS). The guidelines describe the nature, role, and principles of counseling, the…

  1. Level of Interactivity of Videodisc Instruction on College Students' Recall of AIDS Information.

    ERIC Educational Resources Information Center

    Kritch, Kale M.; And Others

    1995-01-01

    Two experiments confirmed the greater effectiveness of constructed-response interactive videodisc instruction when compared to a click-to-continue or passive viewing formats on posttest recall of Acquired Immune Deficiency Syndrome (AIDS) information by 101 college students. The necessity of constructing answers appears to be an important factor…

  2. Considerations for Reaching the Latino Population with Sexuality and HIV/AIDS Information and Education.

    ERIC Educational Resources Information Center

    de la Vega, Ernesto

    1990-01-01

    Latino and Latina sexual attitudes and behaviors must be understood if educators and counselors hope to reach this population with effective sexuality and Human Immunodeficiency Virus/Acquired Immune Deficiency Syndrome (HIV/AIDS) information and education. The general U.S. Latino population is mostly sexually conservative; direct talk in public…

  3. The Save-Your-Life Glossary of Alcohol, AIDS, Drug, & Tobacco Terms.

    ERIC Educational Resources Information Center

    Adcock, Deborah

    This document presents the Save-Your-Life Glossary, which consists of four parts: (1) the glossary itself, which defines alcohol, Acquired Immune Deficiency Syndrome (AIDS), drug, and tobacco-related terms; (2) the alerts sections, which focus on popular drugs or issues that concern young people; (3) the focus sections, which categorize and…

  4. Issues in the Development of Undergraduate Courses on the Psychosocial Implications of AIDS.

    ERIC Educational Resources Information Center

    Heyman, Steven R.

    This paper discusses the issues that should be addressed in an undergraduate course dealing with the psychosocial implications of AIDS (Acquired Immune Deficiency Syndrome). These issues are: (1) the medical aspects of HIV infection and transmission; (2) death and dying versus life and living; (3) homosexuality; (4) intravenous drug use; (5)…

  5. Children with HIV/AIDS: A Sourcebook for Caring. A Guide for Establishing Programs for Children.

    ERIC Educational Resources Information Center

    Allbritten, Dorothy J.

    This manual is intended for administrators and professional caregivers who wish to provide comprehensive health care to children with Human Immunodeficiency Virus (HIV) infection, the cause of Acquired Immune Deficiency Syndrome (AIDS). Chapter 1, an overview, examines the societal and economic issues that affect care and treatment of children…

  6. Nebraska Adolescents' HIV/AIDS Attitudes, Knowledge and Related Practices: 1989. Technical Report 22.

    ERIC Educational Resources Information Center

    Newman, Ian M.; And Others

    This report presents information from a survey of the knowledge, attitudes, and practices of Nebraska adolescents (N=1,240) in grades 9-12 related to the Human-Immunodeficiency Virus (HIV)/Acquired Immune Deficiency Syndrome (AIDS). Schools were selected at random from each of the six classifications of Nebraska schools, and two or three…

  7. Gender Differences in AIDS-Relevant Condom Attitudes and Condom Use.

    ERIC Educational Resources Information Center

    Sacco, William P.; And Others

    Many heterosexuals have not altered their sexual practices in response to the threat of Acquired Immune Deficiency Syndrome (AIDS). Knowledge of risk alone appears to have little effect on altering sexual behavior; more complex psychological factors seem to be involved. Condom use to prevent the spread of Human Immunodeficiency Virus is a unique…

  8. Why AIDS? The Mystery of How HIV Attacks the Immune System.

    ERIC Educational Resources Information Center

    Christensen, Damaris

    1999-01-01

    Reviews differing theories surrounding the mystery of how human immunodeficiency virus (HIV) attacks the immune system. Claims that understanding how HIV triggers immune-cell depletion may enable researchers to block its effects. New knowledge could reveal strategies for acquired immune deficiency syndrome (AIDS) therapies that go beyond the drugs…

  9. HIV Education for Persons with Mental Disabilities. AIDS Technical Report, No. 1.

    ERIC Educational Resources Information Center

    Harvey, David C.; Trivelli, Lucy U.

    This technical report is part of a series on AIDS/HIV (Acquired Immune Deficiency Syndrome/Human Immunodeficiency Virus) and is intended to help link various legal advocacy organizations providing services to persons with mental illness or developmental disabilities. Such persons, especially adolescents, are at risk for exposure to HIV because…

  10. A Disease Called AIDS. For Grades 5 through 7. Instructor's Guide and Student Guide.

    ERIC Educational Resources Information Center

    Hubbard, Betty M.

    The introductory section of the first of two related guides provides information that describes and assists in teaching a curriculum on HIV (human immunodeficiency virus) and AIDS (acquired immune deficiency syndrome). The introduction discusses the scope of the problem and includes an overview of the curriculum, a review of teaching strategies,…

  11. If Your Child Had AIDS...: Responses of Parents with Homosexual Children.

    ERIC Educational Resources Information Center

    Cleveland, Peggy H.; And Others

    1988-01-01

    Assessed the attitudes of parents of homosexual children, primarily members of support groups for parents of lesbians/gays, were they to discover their child(ren) had Acquired Immune Deficiency Syndrome (AIDS). Responses indicated devastation at the thought, with persistence of a bond between parent and child, though parents felt ambivalent…

  12. Grassroots AIDS Knowledge: Implications for the Boundaries of Science and Collective Action.

    ERIC Educational Resources Information Center

    Indyk, Debbie; Rier, David A.

    1993-01-01

    Discusses grassroots AIDS (Acquired Immune Deficiency Syndrome) groups and their creation, dissemination, and interpretation of knowledge; and considers whether their knowledge production model applies to other public policy issues, using toxic exposure and women's health research as examples. Theoretical implications are considered, and the…

  13. Health through Knowledge: An ESL Curriculum with a Special Focus on AIDS Awareness.

    ERIC Educational Resources Information Center

    Network of California Community Coll. Foundations, Rancho Cucamonga, CA.

    Health concerns that refugees and immigrants might have are discussed in a culturally relevant and sensitive way, and information on sensitive topics, such as drugs, sexuality, and Acquired Immune Deficiency Syndrome (AIDS) is provided so that refugee and immigrant parents can protect themselves as well as teach their children to protect…

  14. Assessment of Discharge Planning Referral to Nursing Homes for People with AIDS and HIV Infection.

    ERIC Educational Resources Information Center

    Linsk, Nathan L.; Marder, Reggi E.

    This study was conducted to identify efforts by hospital discharge planners to refer clients with human immunodeficiency virus (HIV) or Acquired Immune Deficiency Syndrome (AIDS) to nursing homes; to determine the responses of the facilities contacted; and to identify gaps in services, discharge planner practices, and relationships between…

  15. Hispanic Knowledge, Attitudes and Beliefs about AIDS: A Survey in Four Southwestern States.

    ERIC Educational Resources Information Center

    Latin American Research and Service Agency, Denver, CO.

    This document comprises a report on the knowledge, attitudes, and beliefs about Acquired Immune Deficiency Syndrome (AIDS) of Hispanic Americans residing in Arizona, Colorado, New Mexico, and Texas. A total of 2,400 people (600 per state) were interviewed by telephone between December 1988 and January 1989. The following sample characteristics are…

  16. AIDS at the Medical College of Georgia--A Study in Institutional Ethics.

    ERIC Educational Resources Information Center

    Koelbl, James J.

    1991-01-01

    The article addresses issues arising when a dental student is positive for the Human Immunodeficiency Virus (HIV) or has AIDS (Acquired Immune Deficiency Syndrome). Considered are the student's right to confidentiality, the duty to warn, the patient's right to informed consent, guidelines of the American Dental Association, possible alternatives…

  17. AIDS and HIV. Policy Guidelines for Boards. Campus Life Policy Series.

    ERIC Educational Resources Information Center

    Keeling, Richard P.

    1992-01-01

    The report is designed to inform members of college and university and administration governing boards about facts and issues surrounding acquired immune deficiency syndrome (AIDS) and the human immunodeficiency virus (HIV) so that they may develop education and prevention programs for their institutions and ensure protection from accidental…

  18. AIDS Preventive Education and Life Skills Training Programme for Secondary Schools: Development and Evaluation.

    ERIC Educational Resources Information Center

    Meyer-Weitz, A.; Steyn, M.

    This publication reports on a pilot program on Acquired Immune Deficiency Syndrome (AIDS) and life skills training implemented in 12 schools in Pretoria, Laudium, Cape Town, and Soweto (South Africa). Data were collected through pre- and post-questionnaires and focus group interviews. The purpose of the program was to provide adolescents with…

  19. AIDS/HIV Infection Policies for Early Childhood and School Settings.

    ERIC Educational Resources Information Center

    Massachusetts State Dept. of Public Health, Boston.

    This volume of policies related to children with Acquired Immune Deficiency Syndrome (AIDS) or Human Immunodeficiency Virus (HIV) describes appropriate ways to guarantee students' rights while maintaining public health, and answers questions for parents, educators, and caregivers. Section 1 presents policy guidelines for infants, toddlers, and…

  20. Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification.

    PubMed

    Sly, W S; Whyte, M P; Sundaram, V; Tashian, R E; Hewett-Emmett, D; Guibaud, P; Vainsel, M; Baluarte, H J; Gruskin, A; Al-Mosawi, M

    1985-07-18

    Osteopetrosis with renal tubular acidosis and cerebral calcification was identified as a recessively inherited syndrome in 1972. In 1983, we reported a deficiency of carbonic anhydrase II, one of the isozymes of carbonic anhydrase, in three sisters with this disorder. We now describe our study of 18 similarly affected patients with this syndrome in 11 unrelated families of different geographic and ethnic origins. Virtual absence of the carbonic anhydrase II peak on high-performance liquid chromatography, of the esterase and carbon dioxide hydratase activities of carbonic anhydrase II, and of immunoprecipitable isozyme II was demonstrated on extracts of erythrocyte hemolysates from all patients studied. Reduced levels of isozyme II were found in obligate heterozygotes. These observations demonstrate the generality of the findings that we reported earlier in one family and provide further evidence that a deficiency of carbonic anhydrase II is the enzymatic basis for the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. We also summarize the clinical findings in these families, propose mechanisms by which a deficiency of carbonic anhydrase II could produce this metabolic disorder of bone, kidney, and brain, and discuss the clinical evidence for genetic heterogeneity in patients from different kindreds with this inborn error of metabolism.