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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/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.…

  3. 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;…

  4. 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;…

  5. 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.…

  6. Teaching AIDS. A Resource Guide on Acquired Immune Deficiency Syndrome. Third Edition.

    ERIC Educational Resources Information Center

    Quackenbush, Marcia; Sargent, Pamela

    The first edition of this resource guide for educators on how to teach students about Acquired Immune Deficiency Syndrome (AIDS) was published in 1986. Since then, basic facts about the transmission and prevention of the AIDS virus have not changed substantially. The terminologies about the disease, however, have changed and the changing…

  7. 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…

  8. 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…

  9. 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.

  10. 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…

  11. 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.

  12. 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.

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

    DTIC Science & Technology

    1987-09-30

    early 1984, American scientists isolated a virus from AIDS patients and called it human T-cell lymphotropic virus type III (HTLV-III). Another group of...which is now called human immunodeficiency virus (HIV). The popular press often refers to it as the AIDS virus . See, Answers, supra, note 1 , at 10-11...narrow point on a wide spectrum of illnesses resulting from a human -immunodeficiency- 16 virus (HIV) infection. HIV is an infectious and communicable

  14. 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

  15. 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.

  16. 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.

  17. 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.

  18. 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.

  19. 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.…

  20. 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.…

  1. 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.

  2. Neurobehavioral Consequences of HTLV-III Brain Infection and Acquired Immune Deficiency Syndrome (AIDS) Encephalopathy: A Prospective Study

    DTIC Science & Technology

    1990-02-15

    AD-A220 180 +++AAD-A22 0t Available Copy FUNDING NO.: 87PP7856 TITLE: Neurobehavioral Consequences of HTLV -III Brain Infection and Acquired Immune...TITLE (Include Securty Classifiat:on) Neurobehavioral Consequences of HTLV -1II Brain Infection and Acquired Immune Deficiency Syndrome (AIDS...abnormalities in CSF & specific cognitive tasks of atten- tion & information processing. This latter occurs in a subgroup of HIV+ patients, but not in

  3. Acquired immune deficiency syndrome (AIDS) in the United States in 1986: etiology, epidemiology, clinical manifestations, and dental implications.

    PubMed

    Anneroth, G; Anneroth, I; Lynch, D P

    1986-12-01

    The acquired immune deficiency syndrome (AIDS) results from a lymphotropic retrovirus (HTLV-III) infection and is characterized by specific opportunistic infections and malignancies. The virus is transmitted primarily by semen and blood. Infection is limited principally to defined risk groups, i.e., homosexual men and intravenous drug users. Head and neck manifestations include cervical lymphadenopathy and Kaposi's sarcoma. Oral manifestations include Kaposi's sarcoma, candidiasis, hairy leukoplakia, precocious periodontal disease, xerostomia, herpes simplex, recurrent aphthae, erythema multiforme, and venereal warts. Although HTLV-III is present in saliva, there are no reported cases of transmission secondary to dental procedures. Appropriate precautions and techniques are recommended in treating patients at risk for AIDS.

  4. 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.

  5. [Present situation of awareness of acquired immune deficiency syndrome (AIDS) knowledge and AIDS-related behaviors among youth students in gay dating sites].

    PubMed

    2017-06-18

    To investigate the awareness of acquired immune deficiency syndrome (AIDS) knowledge and AIDS-related behaviors among youth students in gay dating sites, and to provide evidences for AIDS prevention education through the internet. The students in gay dating sites, selected by a snowball sampling, were interviewed by questionnaires. Chi-square tests were used to analyze the awareness of AIDS knowledge among the students of different characteristics. The Logistic regression was used to analyze the factors associated with ever testing for HIV. In the study, 469 youth students in gay dating sites filled in the questionnaires, and a total of 442 (94.2%) valid samples were collected. The awareness of HIV/AIDS knowledge for the public among the youth students in gay dating sites was 83.9% (371).The awareness of HIV/AIDS knowledge for the youth students was 77.1% (341), and the rate of ever testing for HIV was 52.0% (230). The awareness of HIV/AIDS knowledge for the public in the students were different in different age groups (P=0.001), different marital statuses (P<0.001), different sexual orientations (P<0.001), and different genders of the first sexual partner (P<0.001). The awareness of HIV/AIDS knowledge for the youth students were different in different age groups (P=0.010), different marital status (P=0.004), different sexual orientations (P<0.001), and different genders of the first sexual partner (P<0.001). The rate of ever having sexual intercourse among the youth students in gay dating sites was 75.1% (332), and the rate of multiple sexual partnerships among the youth students was 41.3% (137). Compared with homosexual orientation, sexual orientation as heterosexual (OR=0.282, 95%CI: 0.151 to 0.528) and not sure (OR=0.175, 95%CI: 0.035 to 0.885) were risk factors of ever testing for HIV. Multiple sexual partnerships (OR=2.103, 95%CI: 1.278 to 3.462) were promoting factors of ever testing for HIV. The rate of high-risk behaviors among the youth students in gay

  6. 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.

  7. 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.

  8. 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

  9. 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

  10. 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

  11. 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,…

  12. 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

  13. 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

  14. 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

  15. 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…

  16. Expression of Ley antigen in human immunodeficiency virus-infected human T cell lines and in peripheral lymphocytes of patients with acquired immune deficiency syndrome (AIDS) and AIDS-related complex (ARC)

    PubMed Central

    1988-01-01

    Ley determinant (Fuc alpha 1----2Gal beta 1----4[Fuc alpha 1---- 3]GlcNAc beta 1----R) defined by mAb BM-1 is highly expressed in human immunodeficiency virus (HIV)-infected T cell lines and in CD3+ peripheral mature T cells of patients with acquired immune deficiency syndrome (AIDS) or with AIDS-related complex (ARC). Ley expression increased greatly in the CD3+ population in the advanced stage of AIDS when the CD4+ population decreased greatly. Six other carbohydrate antigens tested by their respective mAbs were not detected in these same cells. None of the carbohydrate antigens tested by the seven mAbs used in this study were found in noninfected T cell lines and in normal peripheral blood lymphocytes. PMID:3258005

  17. Knowledge and attitude of Indian clinical dental students towards the dental treatment of patients with human immunodeficiency virus (HIV)/acquired immune-deficiency syndrome (AIDS).

    PubMed

    Oberoi, Sukhvinder Singh; Marya, Charu Mohan; Sharma, Nilima; Mohanty, Vikrant; Marwah, Mohita; Oberoi, Avneet

    2014-12-01

    Oral health care of patients with human immunodeficiency virus (HIV)/acquired immune-deficiency syndrome (AIDS) is a growing area of concern. Information on HIV- and AIDS-related knowledge among dental students provides a crucial foundation for efforts aimed at developing an appropriate dental curriculum on HIV and AIDS. The purpose of this study was to assess the knowledge and attitude of Indian clinical dental students towards the treatment of patients with HIV/AIDS and perceived sources of information regarding HIV-related issues. Data were collected from clinical dental students (third year, fourth year and internship) from three dental institutions in Delhi National Capital Region (NCR). The questions assessed the knowledge and attitude towards treatment of patients with HIV and the perceived source of information related to HIV. The willingness to treat HIV-positive patients among dental students was 67.0%, and 74.20% were confident of treating a patient with HIV/AIDS. The potential problems in rendering treatment to these patients were effect on the attitude of other patients (49.90%) and staff fears (52.50%). The correct knowledge regarding the infection-control practice (barrier technique) was found among only 15.50% of respondents. The respondents had sufficient knowledge regarding the oral manifestations of HIV/AIDS. There was no correlation between the knowledge and attitude score, demonstrating a gap between knowledge and attitude among dental students regarding treatment of HIV-infected patients. Appropriate knowledge has to be delivered through the dental education curriculum, which can instil confidence in students about their ability to manage HIV-positive patients. © 2014 FDI World Dental Federation.

  18. 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.

  19. 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…

  20. 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

  1. AIDS (Acquired Immune Deficiency Syndrome): Views on the Administration’s Fiscal Year 1989 Public Health Service Budget

    DTIC Science & Technology

    1988-06-01

    diagnose, care for, and treat patients with AIDS. -- Vaccines: NIH and FDA studies to develop and test antiviral vaccines. -- Public Health Control...users’ basic behavior, such as teaching drug users how to disinfect needles, could be implemented. Moreover, these methods of prevention can be used for

  2. 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.

  3. Hyperthyroidism caused by acquired immune deficiency syndrome.

    PubMed

    Wang, J-J; Zhou, J-J; Yuan, X-L; Li, C-Y; Sheng, H; Su, B; Sheng, C-J; Qu, S; Li, H

    2014-01-01

    Acquired immune deficiency syndrome (AIDS) is an immune deficiency disease. The etiology of hyperthyroidism, which can also be immune-related, is usually divided into six classical categories, including hypophyseal, hypothalamic, thyroid, neoplastic, autoimmune and inflammatory hyperthyroidism. Hyperthyroidism is a rare complication of highly active antimicrobial therapy (HAART) for human immunodeficiency virus (HIV). Hyperthyroidism caused directly by AIDS has not been previously reported. A 29-year-old man who complained of dyspnea and asthenia for 1 month, recurrent fever for more than 20 days, and breathlessness for 1 week was admitted to our hospital. The thyroid function test showed that the level of free thyroxine (FT4) was higher than normal and that the level of thyroid-stimulating hormone (TSH) was below normal. He was diagnosed with hyperthyroidism. Additional investigations revealed a low serum albumin level and chest infection, along with diffuse lung fibrosis. Within 1 month, he experienced significant weight loss, no hand tremors, intolerance of heat, and perspiration proneness. We recommended an HIV examination; subsequently, AIDS was diagnosed based on the laboratory parameters. This is the first reported case of hyperthyroidism caused by AIDS. AIDS may cause hyperthyroidism by immunization regulation with complex, atypical, and easily ignored symptoms. Although hyperthyroidism is rare in patients with AIDS, clinicians should be aware of this potential interaction and should carefully monitor thyroid function in HIV-positive patients.

  4. Longterm Follow-Up of Patients in CSP No. 298 ’Treatment of Patients with Acquired Deficiency Syndrome (AIDS) and AIDS Related Complex

    DTIC Science & Technology

    1993-04-01

    Infection, Viral resistance, AZT, Zidovudine 1.•pW1 CE ’ 17. SECURITY CLASSIFICATION 1S. SECURITY CLASSIFICATION 19. SECURITY CLASSIFICATION 20...AIDS or had a sustained fall in CD4 count to < 200, and the control had not had either of these events. We tound that viral resistance to zidovudine is...al. A controlled trial of early versus late treatment with zidovudine in symptomatic human immunodeficiency virus infection: Results of the Veterans

  5. 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.

  6. 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.

  7. 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.

  8. 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.

  9. 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…

  10. 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…

  11. 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.

  12. 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. ...

  13. [Human acquired immunodeficiency syndrome (AIDS)].

    PubMed

    Pivel, L; Di Píramoll, S; Betancor, E

    1987-12-01

    This work, intended primarily for dentists, provides detailed information on the mechanism of action of the AIDS virus, its epidemiology and most common routes of infection, the clinical manifestations of HIV infection, and related oral lesions of relevance to the dentist. The work also recommends ways in which dentists can aid in diagnosis, avoid contaminating patients, and avoid being infected themselves by seropositive patients. The article begins by describing retroviruses and their mode of action and then focuses on the pathogenic mechanism of the HIV virus, which preferentially attacks T4 helper lymphocytes. The lymphocytes are destroyed by the viruses multiplying in their interiors. The decline in the number of T4 lymphocytes results in diminished capacity of the immune system to respond, favoring in turn the appearance of certain tumors and opportunistic infections that eventually prove fatal. The virus may also affect cells of the central nervous system, producing dementia and other disorders. Although AIDS was initially observed primarily in male homosexuals and drug addicts in the US and Europe, it has had a relatively even sex ratio in Africa, where few victims have been homosexuals or drug addicts. The virus is now found in most of the world's countries and is known to be spread primarily through sexual contact. Other routes of transmission are by contaminated hypodermic needles, prenatal infection, and infected blood transfusions. There is still no good evidence that saliva can be a route of contamination. Lesions of the oral cavity that indicate immune deficiency include Candidiasis, gingivostomatitis, necrosing ulcer, Histoplasmosis, Herpes simplex, papillomas and condylomas, Leukoplasia vellosa, Kaposi's sarcoma, some cancers, and non-Hodgkin's lymphoma. European and American studies indicate that 75% of AIDS patients have oral or oral-esophageal candidiasis, which can occur in 3 forms. Most of these oral manifestations are very rare in the general

  14. [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.

  15. 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…

  16. 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…

  17. PERC: a nursing syndrome for AIDS.

    PubMed

    Coler, M S

    1996-01-01

    Perc is an acronym and represents a proposed nursing syndrome for people with AIDS. It incorporates the NANDA human response patterns of perceiving, exchanging, relating and choosing. These patterns were identified through a review of literature on AIDS, especially that which addressed NANDA nursing diagnoses. The analysis showed that the most frequently used nursing diagnoses across various clinical areas were concentrated in the four human response patterns. Following an analysis of the concept, syndrome, PERC was seen as an appropriate way of consolidating those nursing diagnoses, signs and symptoms that the nurses will generally encounter in working with people with aids.

  18. Cutaneous Manifestations of DOCK8 Deficiency Syndrome

    PubMed Central

    Chu, Emily Y.; Freeman, Alexandra F.; Jing, Huie; Cowen, Edward W.; Davis, Joie; Su, Helen C.; Holland, Steven M.; Chanco Turner, Maria L.

    2014-01-01

    Background Mutations in the dedicator of cytokinesis 8 gene (DOCK8) cause a combined primary immunodeficiency syndrome that is characterized by elevated serum IgE levels, depressed IgM levels, eosinophilia, sinopulmonary infections, cutaneous viral infections, and lymphopenia. Many patients with DOCK8 deficiency were previously thought to have a variant of Job’s syndrome. Distinguishing between DOCK8 deficiency and Job’s syndrome, also referred to as autosomal dominant hyper-IgE syndrome, on the basis of clinical findings alone is challenging. The discovery of the DOCK8 mutation has made it possible to differentiate the cutaneous manifestations of these hyper-IgE syndromes. Observations Twenty-one patients from 14 families with confirmed homozygous or compound heterozygous mutations in DOCK8 were evaluated. Clinical findings included dermatitis, asthma, food and environmental allergies, recurrent sinopulmonary infections, staphylococcal skin abscesses, and severe cutaneous viral infections. Malignant neoplasms, including aggressive cutaneous T-cell lymphoma, anal and vulvar squamous cell carcinomas, and diffuse large B-cell lymphoma, developed in 5 patients during adolescence and young adulthood. Conclusions DOCK8 deficiency and Job’s syndrome share several clinical features, including elevated serum IgE levels, dermatitis, recurrent sinopulmonary infections, and cutaneous staphylococcal abscesses. However, the presence of recalcitrant, widespread cutaneous viral infections, asthma, and food and environmental allergies, as well as the absence of newborn rash and coarse facies, favors the clinical diagnosis of DOCK8 deficiency. Rates of malignancy and overall mortality in patients with DOCK8 deficiency were higher than in those with Job’s syndrome, highlighting the value of distinguishing between these conditions and the importance of close monitoring for neoplasia. PMID:21931011

  19. 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

  20. 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

  1. [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.

  2. 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.

  3. 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

  4. Atypical Manifestations in Glut1 Deficiency Syndrome.

    PubMed

    De Giorgis, V; Varesio, C; Baldassari, C; Piazza, E; Olivotto, S; Macasaet, J; Balottin, U; Veggiotti, P

    2016-08-01

    Glucose transporter type 1 deficiency syndrome is a genetically determined, treatable, neurologic disorder that is caused by an insufficient transport of glucose into the brain. It is caused by a mutation in the SCL2A1 gene, which is so far the only known to be associated with this condition. Glucose transporter type 1 deficiency syndrome consists of a wide clinical spectrum that usually presents with cognitive impairment, epilepsy, paroxysmal exercise-induced dyskinesia, acquired microcephaly, hemolytic anemia, gait disturbance, and dyspraxia in different combinations. However, there are other clinical manifestations that we consider equally peculiar but that have so far been poorly described in literature. In this review, supported by a video contribution, we will accurately describe this type of clinical manifestation such as oculogyric crises, weakness, paroxysmal kinesigenic and nonkinesigenic dyskinesia in order to provide an additional instrument for a correct, rapid diagnosis. © The Author(s) 2016.

  5. 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

  6. 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

  7. Acquired immunodeficiency syndrome (AIDS) in the Americas.

    PubMed

    1987-01-01

    As of September 18, 1987, 48,104 cases of acquired immunodeficiency syndrome (AIDS) had been reported in the Americas to the Pan American Health Organization (PAHO), with a case-fatality mate of 55%. Brazil, Canada, Haiti, and the US contributed 96% of the reported cases. Excluding North America, 4966 AIDS cases were reported in the remaining 40 countries and territories of the Americas. Unlike the situation in Africa, where the 1:1 male: female ratio indicates heterosexual transmission, the profile of AIDS in the Americas is dominated by transmission between homosexual and bisexual males. In 2 countries, however, Haiti and the dominican Republic, the ratio of male to female cases is 4:1, which is intermediate between the ratio in Africa and that in the US. PAHO estimates that the true number of AIDS cases in all countries except the US and Canada may be 2-4 times higher than official reported indicate. A Regional WHO/PAHO Special Program on AIDS has been developed to prevent transmission of human immunodeficiency virus (HIV) and reduce the morbidity and mortality associated with HIV infection. Multiple strategies and activities are projected for 1987-89, but the principal goal is to help develop and implement national AIDS prevention and control programs. The strategy calls for support of research to define the epidemiology of AIDS, surveillance conducted with appropriate laboratory support, training of health care workers, and implementation of preventive measures. The PAHO program has already mobilized US$1.3 million from WHO's nonregular funding sources for AIDS prevention and control activities in the Americas. An additional US$5 million has been obtained for AIDS research in Latin America and the Caribbean.

  8. Acquired Immune Deficiency Syndrome Service Coordination Act of 1986. Calendar No. 733.

    ERIC Educational Resources Information Center

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

    The report to the Senate on S. 2345, The Acquired Immune Deficiency Syndrome (AIDS) Service Coordination Act of 1986, recommends passage of this bill, an amendment to the Public Health Service Act, which would authorize appropriations of $40,000,000 in grants during fiscal year 1987 for demonstration projects providing such services for AIDS…

  9. 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.

  10. 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…

  11. 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

  12. 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.

  13. [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.

  14. 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.

  15. [Pharyngeal ulcer in patients with acquired immune deficiency syndrome].

    PubMed

    Fang, Gaoli; Zhang, Luo; Wang, Chengshuo; Xiao, Jiang; Fu, Qian; Zhao, Hongxin

    2014-02-01

    To understand the high incidence of pharyngeal ulcer in patients with acquired immune deficiency syndrome (AIDS). By analyzing the clinical features in AIDS patients with pharyngeal ulcer, this study provided reference for clinicians. Twenty AIDS patients with pharyngeal ulcer were retrospectively analysed to explore its clinical features and mechanism, and to explore the feasible therapeutic methods. The patients generally had severe sore throat and dysphagia for 7 days to 8 months, resulting in significant weight loss. Common therapeutical method does not work. The ulcers developed mainly at vestibule of pharynx (10 cases), tonsil (3 cases), epiglottis (3 cases) and pyriform sinus (2 cases). Ulcer types included major aphthous ulcer (MaAU, 14 cases), fungal ulcer (2 cases), herpes zoster (1 case), ulcer secondary to drug eruption(1 case ), and lymphoma(2 cases). The disease course was long with CD4(+) T lymphocytes decreased significantly. Treatment was given with highly active antiretroviral therapy (HARRT), regulation of immune function, analgesic, anti-inflammatory and anti fungal. Treatment lasted from 2 weeks to 3 months, ulcer healed in 13 cases; 1 patient lost to follow-up, 6 patients dead. The manifestation of pharyngeal ulcer in AIDS patients has its particularity. It is often associated with a variety of opportunistic infection and tumors. Local treatment is preferred. HAART therapy and systemic comprehensive treatment play more important and effective role. Pharyngeal ulcer persists for a long time, complicated with fever, diarrhea and other symptoms. The history of blood transfusion, injection drug use or unsafe sexual behavior may predict HIV infection.

  16. 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.

  17. 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

  18. 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, ...

  19. 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. ...

  20. Trypsin inhibition: a potential cause of cobalamin deficiency common to the pathogenesis of Alzheimer-type dementia and AIDS dementia complex?

    PubMed

    McCaddon, A; Regland, B; Fear, C F

    1995-08-01

    There is increasing evidence for an association between Alzheimer-type dementia (AD) and nutritionally independent cobalamin deficiency. Furthermore, low serum cobalamin values occur in a kindred with familial Alzheimer's disease (FAD) and histopathological confirmation of AD neuropathology. The Cobalamin deficiency could be either a consequence or cause of amyloidogenesis. Cobalamin deficiency is also associated with the acquired immunodeficiency syndrome (AIDS). A common pathogenic mechanism may exist for AIDS dementia complex (ADC) and AD, but there is no explanation at present for these associations. This paper presents the hypothesis that protease inhibition is a common factor in AD and ADC resulting in protein-bound cobalamin malabsorption and disrupted cobalamin metabolism.

  1. 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.

  2. Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome

    PubMed Central

    Torres, Rosa J; Puig, Juan G

    2007-01-01

    Deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity is an inborn error of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzymatic deficiency. The prevalence is estimated at 1/380,000 live births in Canada, and 1/235,000 live births in Spain. Uric acid overproduction is present inall HPRT-deficient patients and is associated with lithiasis and gout. Neurological manifestations include severe action dystonia, choreoathetosis, ballismus, cognitive and attention deficit, and self-injurious behaviour. The most severe forms are known as Lesch-Nyhan syndrome (patients are normal at birth and diagnosis can be accomplished when psychomotor delay becomes apparent). Partial HPRT-deficient patients present these symptoms with a different intensity, and in the least severe forms symptoms may be unapparent. Megaloblastic anaemia is also associated with the disease. Inheritance of HPRT deficiency is X-linked recessive, thus males are generally affected and heterozygous female are carriers (usually asymptomatic). Human HPRT is encoded by a single structural gene on the long arm of the X chromosome at Xq26. To date, more than 300 disease-associated mutations in the HPRT1 gene have been identified. The diagnosis is based on clinical and biochemical findings (hyperuricemia and hyperuricosuria associated with psychomotor delay), and enzymatic (HPRT activity determination in haemolysate, intact erythrocytes or fibroblasts) and molecular tests. Molecular diagnosis allows faster and more accurate carrier and prenatal diagnosis. Prenatal diagnosis can be performed with amniotic cells obtained by amniocentesis at about 15–18 weeks' gestation, or chorionic villus cells obtained at about 10–12 weeks' gestation. Uric acid overproduction can be managed by allopurinol treatment. Doses must be carefully adjusted to avoid xanthine lithiasis. The lack of precise

  3. Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome.

    PubMed

    Torres, Rosa J; Puig, Juan G

    2007-12-08

    Deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity is an inborn error of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzymatic deficiency. The prevalence is estimated at 1/380,000 live births in Canada, and 1/235,000 live births in Spain. Uric acid overproduction is present inall HPRT-deficient patients and is associated with lithiasis and gout. Neurological manifestations include severe action dystonia, choreoathetosis, ballismus, cognitive and attention deficit, and self-injurious behaviour. The most severe forms are known as Lesch-Nyhan syndrome (patients are normal at birth and diagnosis can be accomplished when psychomotor delay becomes apparent). Partial HPRT-deficient patients present these symptoms with a different intensity, and in the least severe forms symptoms may be unapparent. Megaloblastic anaemia is also associated with the disease. Inheritance of HPRT deficiency is X-linked recessive, thus males are generally affected and heterozygous female are carriers (usually asymptomatic). Human HPRT is encoded by a single structural gene on the long arm of the X chromosome at Xq26. To date, more than 300 disease-associated mutations in the HPRT1 gene have been identified. The diagnosis is based on clinical and biochemical findings (hyperuricemia and hyperuricosuria associated with psychomotor delay), and enzymatic (HPRT activity determination in haemolysate, intact erythrocytes or fibroblasts) and molecular tests. Molecular diagnosis allows faster and more accurate carrier and prenatal diagnosis. Prenatal diagnosis can be performed with amniotic cells obtained by amniocentesis at about 15-18 weeks' gestation, or chorionic villus cells obtained at about 10-12 weeks' gestation. Uric acid overproduction can be managed by allopurinol treatment. Doses must be carefully adjusted to avoid xanthine lithiasis. The lack of precise

  4. Primary cardiac lymphoma in a patient with acquired immune deficiency syndrome

    SciTech Connect

    Constantino, A.; West, T.E.; Gupta, M.; Loghmanee, F.

    1987-12-01

    A 34-year-old male prisoner with a history of intravenous drug abuse presented with fever, lymphadenopathy, weight loss, and recent onset of congestive heart failure. Serologic testing was positive for antibodies to human immune deficiency virus. There was intense myocardial uptake of gallium. Autopsy showed a primary immunoblastic lymphoma involving only the myocardium. While primary cardiac lymphoma is an extremely rare condition, the incidence may be higher in patients with acquired immune deficiency syndrome (AIDS) and should be suspected in cases with atypical cardiomyopathy.

  5. 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.

  6. 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

  7. WHIM Syndrome: Congenital Immune Deficiency Disease

    PubMed Central

    Kawai, Toshinao; Malech, Harry L.

    2009-01-01

    Purpose of review WHIM syndrome (WHIM) is a congenital immune deficiency with characteristic clinical features that include: susceptibility to human papilloma virus infection induced warts, condyloma acuminata and carcinomas; neutropenia, B cell lymphopenia and hypogammaglobulinema related recurrent infections; and bone marrow myelokathexis characterized by myeloid hyperplasia and apoptosis. The purpose of this report is to review diagnosis and clinical management, and to highlight new findings about the genetic and biochemical abnormalities that cause WHIM. Recent findings Specific mutations identified in WHIM patients include heterozygous C-terminus deletional mutations of portions of the intracellular carboxy terminus of the chemokine receptor, CXCR4. WHIM leukocytes have enhanced responses to SDF1, the cognate ligand of CXCR4. Enhanced activity of CXCR4 delays release of mature neutrophils from the bone marrow resulting in neutropenia and senescence with apoptosis of mature neutrophils retained in the marrow. Recent reports of 2 patients with WHIM who do not have detectable mutations of CXCR4, but whose cells are hyper-responsive to SCF1 raise the possibility that there is more than one genetic basis for WHIM. One patient had low levels of G-protein receptor kinase 3 (GRK3) protein and mRNA, and the functional hyperactivity response to SDF1 was corrected by forced gene transfer mediated excess expression of GRK3, implicating defective GRK3 phosphorylation mediated downregulation of CXCR3 as the cause of WHIM in that patient. Summary The main subjects reviewed in this chapter include a detailed characterization of the clinical presentation, diagnosis and treatment of WHIM; advances in understanding the genetic basis of WHIM; and review of new studies which delineate the biochemical consequence of WHIM mutations as resulting in hyperfunction of CXCR4 in response to SDF1. PMID:19057201

  8. 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.

  9. Clinical characteristics of abnormal savda syndrome type in human immunodeficiency virus infection and acquired immune deficiency syndrome patients: A cross-sectional investigation in Xinjiang, China.

    PubMed

    Peierdun, Mi-ji-ti; Liu, Wen-xian; Renaguli, Ai-ze-zi; Nurmuhammat, Amat; Li, Xiao-chun; Gulibaier, Ka-ha-er; Ainivaer, Wu-la-mu; Halmurat, Upur

    2015-12-01

    To investigate the distribution of abnormal hilit syndromes in traditional Uighur medicine (TUM) among human immunodeficiency virus infection and acquired immune deficiency syndrome (HIV/AIDS) patients, and to find out the clinical characteristics of abnormal savda syndrome type HIV/AIDS patients. Between June and July in 2012, 307 eligible HIV/AIDS patients from in-patient department and out-patient clinics of Xinjiang Uighur Autonomous Region the Sixth People's Hospital in Urumqi were investigated. TUM syndrome differentiation was performed by a senior TUM physician. Each participant completed a Sign and Symptom Check-List for Persons Living with HIV/AIDS (SSC-HIV) questionnaire. Depression was evaluated by using Hamilton Rating Scale for Depression Questionnaire. Blood specimen was collected from each participant to test the levels of blood chemicals. Of 307 HIV/AIDS patients, 189 (61.6%) were abnormal savda syndrome type, 118 (38.4%) were non-abnormal-savda syndrome type. Mean CD4 counts of abnormal savda syndrome type patients was (227.61±192.93) cells/µL, and the prevalence of anemia, thrombocytopenia, and elevated cystatin C were 49.7%, 28.6%, and 44.7%, which were significantly higher than those in the non-abnormal-savda syndrome type patients (26.3%, 16.0% and 25.0%,P<0.05). In addition, depression (79.9%) and HIV/AIDS-related symptoms such as fatigue (42.3%), back aches (40.7%), lack of appetite (33.9%), night sweats (31.7%) were more common among abnormal savda syndrome patients (P<0.05). Abnormal savda syndrome is the dominant syndrome among HIV/AIDS patients, and they present a more sever clinical manifestation.

  10. 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.

  11. 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…

  12. 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

  13. 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.

  14. 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

  15. [Relationship between vitamin D deficiency and metabolic syndrome].

    PubMed

    González-Molero, Inmaculada; Rojo, Gemma; Morcillo, Sonsoles; Pérez-Valero, Vidal; Rubio-Martín, Eleazara; Gutierrez-Repiso, Carolina; Soriguer, Federico

    2014-06-06

    Vitamin D deficiency and metabolic syndrome are 2 very common health problems in the Spanish population. It has been suggested that patients with metabolic syndrome may be vitamin D deficient more often than subjects without it and that low vitamin D levels may predispose to metabolic syndrome development. However, the results of prospective and intervention studies have been different and such relationship remains unclear. We assessed the relationship between 25-hydroxyvitamin D levels and the prevalence and incidence of metabolic syndrome. We undertook a population-based cohort study in Spain. At baseline (1996-1998), 1,226 subjects were evaluated. Follow-up visits were performed in 2002-2004 and 2005-2007.At baseline and follow-up, participants underwent an interview and a standardized clinical examination with an oral glucose tolerance test in those subjects without known diabetes. At the second visit, 25-hydroxyvitamin D levels and intact parathyroid hormone levels were measured. The prevalence of metabolic syndrome at the second and third visit was 29.4 and 42.5%, respectively. Mean levels of 25-hydroxyvitamin D were lower in subjects with metabolic syndrome: 21.7 (6.21) vs 23.35 (6.29) ng/ml, P<.001.The prevalence of vitamin D deficiency (25-hydroxyvitamin D<20 ng/ml) at the second evaluation was 34.7%, with significant differences between subjects with and without metabolic syndrome(34.6 vs 26.5%, P<.01). Men with vitamin D deficiency had more frequently hypertension and metabolic syndrome than men with normal levels. Women with vitamin D deficiency had more frequently hyperglycemia, hypertension, increased waist circumference and hypertriglyceridemia. In a prospective study, 25-hydroxyvitamin D values<20 ng/ml were not significantly associated with an increased risk of developing metabolic syndrome in the next 5 years (odds ratio 0,99, 95% confidence interval 0.57-1.7, P=.97) after adjusting by sex and age. Vitamin D deficiency is associated with an

  16. 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

  17. Characteristic Analysis from Excessive to Deficient Syndromes in Hepatocarcinoma Underlying miRNA Array Data

    PubMed Central

    Chen, Qi-Long; Lu, Yi-Yu; Zhang, Gui-Biao; Song, Ya-Nan; Zhou, Qian-Mei; Zhang, Hui; Zhang, Wei; Tang, Xin-sheng; Su, Shi-Bing

    2013-01-01

    Traditional Chinese medicine (TCM) treatment is regarded as a safe and effective method for many diseases. In this study, the characteristics among excessive, excessive-deficient, and deficient syndromes of Hepatocellular carcinoma (HCC) were studied using miRNA array data. We first calculated the differentially expressed miRNAs based on random module t-test and classified three TCM syndromes of HCC using SVM method. Then, the weighted miRNA-target networks were constructed for different TCM syndromes using predicted miRNA targets. Subsequently, the prioritized target genes of upexpression network of TCM syndromes were analyzed using DAVID online analysis. The results showed that there are distinctly different hierarchical cluster and network structure of TCM syndromes in HCC, but the excessive-deficient combination syndrome is extrinsically close to deficient syndrome. GO and pathway analysis revealed that the molecular mechanisms of excessive-deficient and deficient syndromes of HCC are more complex than excessive syndrome. Furthermore, although excessive-deficient and deficient syndromes have similar complex mechanisms, excessive-deficient syndrome is more involved than deficient syndrome in development of cancer process. This study suggested that miRNAs might be important mediators involved in the changing process from excessive to deficient syndromes and could be potential molecular markers for the diagnosis of TCM syndromes in HCC. PMID:24382976

  18. 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.

  19. 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.

  20. Genetics Home Reference: GLUT1 deficiency syndrome

    MedlinePlus

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

  1. 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.

  2. 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

  3. Differential Programming of B Cells in AID Deficient Mice

    PubMed Central

    Hogenbirk, Marc A.; Heideman, Marinus R.; Velds, Arno; van den Berk, Paul CM.; Kerkhoven, Ron M.; van Steensel, Bas; Jacobs, Heinz

    2013-01-01

    The Aicda locus encodes the activation induced cytidine deaminase (AID) and is highly expressed in germinal center (GC) B cells to initiate somatic hypermutation (SHM) and class switch recombination (CSR) of immunoglobulin (Ig) genes. Besides these Ig specific activities in B cells, AID has been implicated in active DNA demethylation in non-B cell systems. We here determined a potential role of AID as an epigenetic eraser and transcriptional regulator in B cells. RNA-Seq on different B cell subsets revealed that Aicda−/− B cells are developmentally affected. However as shown by RNA-Seq, MethylCap-Seq, and SNP analysis these transcriptome alterations may not relate to AID, but alternatively to a CBA mouse strain derived region around the targeted Aicda locus. These unexpected confounding parameters provide alternative, AID-independent interpretations on genotype-phenotype correlations previously reported in numerous studies on AID using the Aicda−/− mouse strain. PMID:23922811

  4. 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.

  5. Creatine deficiency syndrome. A treatable myopathy due to arginine-glycine amidinotransferase (AGAT) deficiency.

    PubMed

    Nouioua, S; Cheillan, D; Zaouidi, S; Salomons, G S; Amedjout, N; Kessaci, F; Boulahdour, N; Hamadouche, T; Tazir, M

    2013-08-01

    We report two sisters, aged 11 and 6years, with AGAT deficiency syndrome (OMIM 612718) which is the least common creatine deficiency syndrome. They were born full-term to consanguineous parents and had moderate developmental delay. Examination showed an important language delay, a progressive proximal muscular weakness in the lower limbs with Gowers sign and myopathic electromyography. Investigations revealed undetectable guanidinoacetate and low level of creatine in plasma and urine, characteristic findings of AGAT deficiency syndrome. Brain magnetic resonance spectroscopy showed a markedly reduced level of creatine. Guanidinoacetate methyltransferase (GATM) gene sequencing revealed a homozygous missense mutation in exon 4:c.608A>C, (p.Tyr203Ser). Thirteen months after beginning the treatment with oral creatine monohydrate 200mg/kg/day, then 400mg/kg/day, there was a dramatic improvement in muscle strength with Gowers sign disappearance in both patients, and a mild improvement in language and cognitive functions. AGAT deficiency syndrome should be considered in all patients with language retardation and cognitive impairment associated to a myopathy of unknown etiology such that early diagnosis must lead to creatine supplementation to cure the myopathy and improve language and cognitive function. Copyright © 2013 Elsevier B.V. All rights reserved.

  6. 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.

  7. 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.

  8. Testosterone deficiency syndrome: cellular and molecular mechanism of action.

    PubMed

    Carruthers, Malcolm

    2013-02-01

    There is virtually no correlation between what are generally accepted to be the symptoms of deficient androgen in men and levels of androgens as measured in the laboratory. Now that androgen deficiency is being shown to play a part in conditions as diverse as metabolic syndrome, diabetes, and coronary heart disease, a hypothesis is needed to explain this apparent discrepancy between measured androgen levels and our understanding of the symptoms of androgen deficiency. When the possible mechanisms for androgen actions are considered, one explanation emerges that androgen may act much like insulin in persons with type 2 diabetes mellitus: the degree of androgen resistance may be variable depending on the organs or systems considered. Therefore, the symptoms can result from altered or damaged synthesis of androgen synthesis or regulation, elevated androgen binding, a reduction in tissue response, or decreased as a result of polymorphism and aging. Genomic transcription and translation may also be affected. As with diabetes, in adult male androgen deficiency, it is suggested that the definition of androgen deficiency should be based on individual physiology, with the requirements of the individual at a particular stage of life setting the baseline against which any deficiency of androgens or androgen metabolites, either absolute or relative, is determined. This approach will affect the terminology, etiology, diagnosis, and treatment of androgen deficiency.

  9. 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.

  10. 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.

  11. 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.

  12. 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

  13. 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…

  14. Auditory neuropathy in Brown-Vialetto-Van Laere syndrome due to riboflavin transporter RFVT2 deficiency.

    PubMed

    Menezes, Manoj P; O'Brien, Katherine; Hill, Mandy; Webster, Richard; Antony, Jayne; Ouvrier, Robert; Birman, Catherine; Gardner-Berry, Kirsty

    2016-08-01

    Mutations in the genes encoding the riboflavin transporters RFVT2 and RFVT3 have been identified in Brown-Vialetto-Van Laere syndrome, a neurodegenerative disorder characterized by hearing loss and pontobulbar palsy. Treatment with riboflavin has been shown to benefit individuals with the phenotype of RFVT2 deficiency. Understanding the characteristics of hearing loss in riboflavin transporter deficiency would enable early diagnosis and therapy. We performed hearing assessments in seven children (from four families) with RFVT2 deficiency and reviewed results from previous assessments. Assessments were repeated after 12 months and 24 months of riboflavin therapy and after cochlear implantation in one individual. Hearing loss in these individuals was due to auditory neuropathy spectrum disorder (ANSD). Hearing loss was identified between 3 years and 8 years of age and progressed rapidly. Hearing aids were not beneficial. Riboflavin therapy resulted in improvement of hearing thresholds during the first year of treatment in those with recent-onset hearing loss. Cochlear implantation resulted in a significant improvement in speech perception in one individual. Riboflavin transporter deficiency should be considered in all children presenting with an auditory neuropathy. Speech perception in children with ANSD due to RFVT2 deficiency may be significantly improved by cochlear implantation. © 2016 Mac Keith Press.

  15. 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.

  16. 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.

  17. 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).

  18. 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.

  19. 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.

  20. 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.

  1. 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.

  2. [Antiretroviral therapy of acquired immunodeficiency syndrome (AIDS)].

    PubMed

    Jevtović, Dj; Ranin, J; Salemović, D; Brmbolić, B; Zerjav, S

    1992-11-01

    The unique nature of the replication cycle of the retroviruses, including HIV, offera number of possible targets for chemotherapeutic agents. These are RNA viruses which have the capacity to make DNA copies through their characteristic enzyme, reverse transcriptase, encoded in the pole region of the viral genoma. Reverse transcription is an attractive target for therapeutic intervention as this event is uniquelly associated with retroviruses. Dideoxynucleoside analogues can compete with endogenous nucleosides that are the natural substrate for reverse transcriptase or may be incorporated intro the growing chain of proviral DNA and terminate elongation. Reverse transcriptase inhibition is the principal mechanism of action of zidovudine (AZT) and related nucleosides, dideoxyinosine (ddl) and dideoxycitidine (ddC), which all attach to reverse transcriptase to the same site. This review will discuss current approaches to the antiretroviral therapy in AIDS patients. Several well controlled clinical trials have established both the efficacy and toxicity of AZT in patients with AIDS and severe ARC and it was shown that this drug decreased the incidence and severity of opportunistic infections, with the highly significant reduction in early mortality. The efficacy of newer reverse transcriptase-inhibiting nucleoside derivatives will be discussed too, as well as the issue of combination therapies.

  3. Cytomegalovirus Retinitis and the Acquired Immune Deficiency Syndrome: Bench to Bedside: LXVII Edward Jackson Memorial Lecture

    PubMed Central

    Jabs, Douglas A.

    2010-01-01

    Purpose To update information on cytomegalovirus (CMV) retinitis in patients with the acquired immune deficiency syndrome (AIDS) and to integrate information on its pathogenesis and clinical outcomes. Design Literature review. Methods Selected articles from the medical literature, particularly large epidemiologic studies, including the Johns Hopkins Cytomegalovirus Retinitis Cohort Study, the Longitudinal Study of the Ocular Complications of AIDS, and the Cytomegalovirus Retinitis and Viral Resistance Study, were reviewed. Clinical information is discussed in light of knowledge on CMV, its pathogenesis, and its interactions with human immunodeficiency virus (HIV). Results Cytomegalovirus uses several mechanisms to evade the immune system and establish latent infection in immunologically normal hosts. With immune deficiency, such as late-stage AIDS, CMV reactivates, is disseminated to the eye, and establishes a productive infection, resulting in retinal necrosis. HIV and CMV potentiate each other: CMV accelerates HIV disease, and CMV retinitis is associated with increased mortality. Randomized clinical trials have demonstrated the efficacy of treatments for CMV retinitis. Systemically-administered treatment for CMV retinitis decreases AIDS mortality. Highly active antiretroviral therapy (HAART), effectively suppresses HIV replication, resulting in immune recovery, which, if sufficient, controls retinitis without anti-CMV therapy. Resistant CMV, detected in the blood, correlates with resistant virus in the eye and is associated with worse clinical outcomes, including mortality. Host factors, including host genetics and access to care, play a role in the development of CMV retinitis. Conclusions Clinical outcomes of CMV retinitis in patients with AIDS are dependent on characteristics of the virus and host and on HIV–CMV interactions. PMID:21168815

  4. 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)

  5. Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency.

    PubMed

    Aeby, A; Sznajer, Y; Cavé, H; Rebuffat, E; Van Coster, R; Rigal, O; Van Bogaert, P

    2007-10-01

    The cardiofaciocutaneous (CFC) syndrome is characterized by congenital heart defect, developmental delay, peculiar facial appearance with bitemporal constriction, prominent forehead, downslanting palpebral fissures, curly sparse hair and abnormalities of the skin. CFC syndrome phenotypically overlaps with Noonan and Costello syndromes. Mutations of several genes (PTPN11, HRAS, KRAS, BRAF, MEK1 and MEK2), involved in the mitogen-activated protein kinase (MAPK) pathway, have been identified in CFC-Costello-Noonan patients. Coenzyme Q10 (CoQ10), a lipophilic molecule present in all cell membranes, functions as an electron carrier in the mitochondrial respiratory chain, where it transports electrons from complexes I and II to complex III. CoQ10 deficiency is a rare treatable mitochondrial disorder with various neurological (cerebellar ataxia, myopathy, epilepsy, mental retardation) and extraneurological (cardiomyopathy, nephropathy) signs that are responsive to CoQ10 supplementation. We report the case of a 4-year-old girl who presented a CFC syndrome, confirmed by the presence of a pathogenic R257Q BRAF gene mutation, together with a muscular CoQ10 deficiency. Her psychomotor development was severely impaired, hindered by muscular hypotonia and ataxia, both improving remarkably after CoQ10 treatment. This case suggests that there is a functional connection between the MAPK pathway and the mitochondria. This could be through the phosphorylation of a nuclear receptor essential for CoQ10 biosynthesis. Another hypothesis is that K-Ras, one of the proteins composing the MAPK pathway, might be recruited into the mitochondria to promote apoptosis. This case highlights that CoQ10 might contribute to the pathogenesis of CFC syndrome.

  6. 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…

  7. 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…

  8. Fetal Syndrome of Endocannabinoid Deficiency (FSECD) In Maternal Obesity.

    PubMed

    Schlabritz-Loutsevitch, Natalia; German, Nadezhda; Ventolini, Gary; Larumbe, Eneko; Samson, Jacques

    2016-11-01

    The theory of a fetal origin of adult diseases links many pathological conditions to very early life events and is known as a "developmental programming" phenomenon. The mechanisms of this phenomenon are not quite understood and have been explained by inflammation, stress, etc. In particular the epidemic of obesity, with more than 64% of women being overweight or obese, has been associated with conditions in later life such as mental disorders, diabetes, asthma, and irritable bowel syndrome. Interestingly, these diseases were classified a decade ago as Clinical Syndrome of Endocannabinoid Deficiency (CECD), which was first described by Russo in 2004. Cannabinoids have been used for the treatment of chronic pain for millenniums and act through the mechanism of "kick-starting" the components of the endogenous cannabinoid system (ECS). ECS is a pharmacological target for the treatment of obesity, inflammation, cardiovascular and neuronal damage, and pain. We hypothesize that the deteriorating effect of maternal obesity on offspring health is explained by the mechanism of Fetal Syndrome of Endocannabinoid Deficiency (FSECD), which accompanies maternal obesity. Here we provide support for this hypothesis. Copyright © 2016 Elsevier Ltd. All rights reserved.

  9. Across sectional study: the knowledge, attitude, perception, misconception and views (KAPMV) of adult family members of people living with human immune virus-HIV acquired immune deficiency syndrome-AIDS (PLWHA).

    PubMed

    Bhagavathula, Akshaya Srikanth; Bandari, Deepak Kumar; Elnour, Asim Ahmad; Ahmad, Akram; Khan, Muhammad Umair; Baraka, Mohamed; Hamad, Farah; Shehab, Abdulla

    2015-01-01

    We intended to assess knowledge, attitude, perception, misconception and views (KAP-MV) of family members of PLWHA. A cross-sectional retrospective study conducted in Anti-retroviral centre of Mahatma Gandhi Memorial-MGM hospital, Warangal, Telangana, South-India from July to September 2014. A questionnaire containing 41 items was distributed among adult family members accompanying patients living with HIV/AIDS-PLWHA. Level of KAP-MV was categorized into poor (0-28), average (29-55) and good (56-82). Analysis was performed by Pearson's Chi square, analysis of variance and Spearman's correlation test on 41 variables using SPSS version 21 and p < 0.01. 538 questionnaires were distributed, response rate was (96 %). On knowledge scale, respondents had a mean score of 8.0 ± 1.7, attitude 5.8 ± 3.4, perception 23.4 ± 4.1, misconceptions 8.0 ± 2.1 and views 8.0 ± 3.9. The respondents mean score was 53.2 ± 9.1 (64.9 %). Overall, level of education, marital status, religious beliefs, and employment status has significant (p < 0.001) associations with KAP-MV. Knowledge was significantly correlated with respondents' attitude (r = -0.15, p < 0.001), perception (0.39; p < 0.001), and views (0.381; p < 0.001). Family members of PLWHA with less knowledge score had more negative attitude, perception and views. Level of education, marital status, religious beliefs and employment status were identified as key barriers. Interventions targeting family members of PLWHA are warranted. Practice implications are as follows: Encourage role of family members.Deploy interventions.Minimize barriers.Change misconceptions.

  10. Resource utilization patterns in patients with acquired immunodeficiency syndrome (AIDS).

    PubMed

    Okello, D O

    1994-12-01

    A survey in 1991 of resource use patterns and factors affecting the cost of care for the acquired immunodeficiency syndrome (AIDS) in Mulago Hospital, Kampala, Uganda, revealed that drugs constitute 97% of the mean cost of care of affected individuals in the outpatient and 37% in hospitalized patients. The cost of drugs per treatment episode was Ug.Sh.5785.00 in the outpatient and Ug.Sh.8309.00 for inpatients. (The exchange rate for 1991 was US$ = Ug.Sh.910.00). Analysis of an attempt to provide essential drugs for the growing number of AIDS subjects shows that drugs alone could consume the entire health budget of the Ministry of Health in Uganda. There is therefore need to critically consider options to control the high cost for drugs in AIDS care.

  11. 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.

  12. 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.

  13. 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…

  14. [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.

  15. [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.

  16. 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

  17. Syndromes with focal femoral deficiency: strengths and weaknesses of prenatal sonography.

    PubMed

    Filly, Anthony L; Robnett-Filly, Barbara; Filly, Roy A

    2004-11-01

    To further characterize the prenatal diagnosis of proximal focal femoral deficiency and to contrast this entity with a variety of other "syndromes" in which the femur may be deficient. We report 2 cases of proximal focal femoral deficiency and a case of femoral-facial syndrome. A series of 3 women whose fetuses had deficiency of 1 or both femurs were carefully analyzed for severity and for similarities and differences with other syndromes in which the femur may be deficient, as well as syndromes showing global skeletal abnormalities. Prenatal sonography is a valuable tool both for detecting cases of proximal focal femoral deficiency, separating them from syndromes showing global skeletal abnormalities, and for stratifying them according to severity.

  18. 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

  19. [Incomplete hemolytic uremic syndrome associated with partial factor H deficiency].

    PubMed

    Olaciregui Echenique, I; Areses Trapote, R; Ubetagoyena Arrieta, M; Sota Busselo, I; García Pardos, C; Echaniz Aizpuru, P

    2007-02-01

    Hemolytic uremic syndrome (HUS) consists of the association of hemolytic anemia, thrombocytopenia and renal failure. Most cases are related to toxins (verotoxins) produced by Escherichia coli 0157:H7 and generally have good renal prognosis. Atypical forms can occur, with a less favorable prognosis, and can be due to mutations in the gene codifying factor H, a protein that regulates activation of the alternative complement pathway, among other causes. Factor H deficiency produces continuous complement activation, causing injury to capillary endothelial cells. We report a case of incomplete (absence of thrombocytopenia and uremia), atypical HUS in which hypocomplementemia secondary to partial factor H deficiency was detected, with favorable outcome. Prior to symptom onset, the patient had a Campylobacter infection, precipitating the symptoms. Genetic analysis showed a heterozygous mutation (C846T) located in the SCR4 domain, generating an amino acid change in the factor H molecule (Pro240Leu). This mutation may have been the cause of the partial factor H deficiency and the patient's symptoms on admission.

  20. 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

  1. 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.

  2. 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.

  3. 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

  4. The Brain in AIDS: Central Nervous System HIV-1 Infection and AIDS Dementia Complex.

    ERIC Educational Resources Information Center

    Price, Richard W.; And Others

    1988-01-01

    Discusses the complicated infection of human immunodeficiency virus type 1 (HIV-1) in its late stages of the acquired immune deficiency syndrome (AIDS) dementia complex. Explains the syndrome's development of abnormalities in cognition, motor performance, and behavior. (TW)

  5. Palliative care in acquired immunodeficiency syndrome (AIDS): problems and practicalities.

    PubMed

    Glare, P A

    1994-03-01

    The World Health Organisation estimates that over 1.5 million human immunodeficiency virus (HIV) infections have occurred to date in South and South East Asia. As most of these patients will develop acquired immunodeficiency syndrome (AIDS) in the coming decade, health services in the region face a major challenge in meeting their needs. While treatments are available which prolong the lives of patients with AIDS, most will eventually die of their disease, and attention needs to be given to controlling pain and other symptoms and improving quality of life. Providing palliative care for patients with AIDS raises complex issues not normally encountered in traditional palliative care practice. Based on the author's experience with the Central Sydney Area Palliative Care Service in Sydney, Australia, this paper discusses the problems and practicalities involved in palliative care for adult patients with advanced AIDS, such as clinical decision making, pain and other symptom control, psychosocial issues and terminal care. Representative case histories are described to illustrate how the palliative care physician can start to approach some of the dilemmas created by this demanding yet growing area of palliative care.

  6. 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

  7. 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.

  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. [AIDS. The etiologic agent for acquired immunodeficiency syndrome].

    PubMed

    Lee, W Y

    1993-01-01

    In 1981, an unusual case with immunodeficiency was reported and there after an epidemic fo the similar syndrome in population of homosexuals was recognized by Center for Diseases Control(CDC) U. S. A. Later the disease was characterized as an acquired immunodeficiency syndrome(AIDS). In 1983, virologists found the causative agent which is a novel retrovirus named human immunodeficiency virus(HIV). Since then, by use of modern biotechnology, numerous and detailed informations have been accumulated by various researchers. The result, however, demonstrated that there is no a single method of satisfaction to prevent of cure the disease except avoiding from the agent. This problems are discussed by reviewing the results reported up to date.

  10. Histopathologic changes in macaques with an acquired immunodeficiency syndrome (AIDS).

    PubMed Central

    King, N. W.; Hunt, R. D.; Letvin, N. L.

    1983-01-01

    The authors recently described the clinical course of an Acquired Immunodeficiency Syndrome (AIDS) in a colony of macaque monkeys. In the present study, they have reviewed the histopathology of tissues obtained from a cohort of 16 animals with this clinical syndrome at necropsy. They found evidence in these animals of several opportunistic infections, including cytomegalovirus (CMV), simian virus 40 (SV-40), and noma. Furthermore, a number of other unusual pathologic processes were noted. In 4 animals an array of lymphoproliferative disorders was observed, ranging from multiple nodules of lymphocytes in the kidney, liver, and bone marrow, to frank lymphoma. Evidence of retroperitoneal fibrosis was found in 3 of the animals. Finally, amyloidosis was observed in several animals; in two instances it was present only in the mucosa of the small intestine. Images Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 Figure 6 Figure 7 Figure 8 Figure 9 Figure 10 PMID:6316791

  11. Thyroid hormone levels in the acquired immunodeficiency syndrome (AIDS) or AIDS-related complex.

    PubMed Central

    Tang, W W; Kaptein, E M

    1989-01-01

    Hypothalamic-pituitary dysfunction and thyroid gland cytomegalovirus inclusions have been described in patients with the acquired immunodeficiency syndrome (AIDS) and AIDS-related complex (ARC). We evaluated 80 patients with AIDS or ARC for the frequency of hypothalamic-pituitary or thyroid gland failure and altered serum thyroid hormone levels due to nonthyroidal disorders. One patient had subclinical hypothyroidism. Of these patients, 60% had low free triiodothyronine (T3) index values and 4% had low free thyroxine (T4) indexes; none of the latter had hypothalamic-pituitary or thyroid gland failure, since all serum cortisol values were greater than or equal to 552 nmol per liter (greater than or equal to 20 micrograms per dl) and all thyrotropin levels were less than or equal to 3 mU per liter (less than or equal to 3 microU per ml), respectively. Those who died had lower total T4 and T3, free T3 index, and albumin levels than those discharged from hospital. Serum total T4 and T3 levels correlated with albumin levels and total T3 with serum sodium levels. Serum total T3 levels best predicted the outcome of the hospital stay (accuracy = 82%). Thus, abnormal serum thyroid hormone levels in AIDS or ARC patients are most frequently due to nonthyroidal disorders, but hypothalamic-pituitary or thyroid gland failure may occur. PMID:2618039

  12. Phosphoserine phosphatase deficiency in a patient with Williams syndrome.

    PubMed Central

    Jaeken, J; Detheux, M; Fryns, J P; Collet, J F; Alliet, P; Van Schaftingen, E

    1997-01-01

    Decreased serine levels were found in plasma and cerebrospinal fluid (CSF) of a boy with pre- and postnatal growth retardation, moderate psychomotor retardation, and facial dysmorphism suggestive of Williams syndrome. Fluorescence in situ hybridisation with an elastin gene probe indicated the presence of a submicroscopic 7q11.23 deletion, confirming this diagnosis. Further investigation showed that the phosphoserine phosphatase (EC 3.1.3.3.) activity in lymphoblasts and fibroblasts amounted to about 25% of normal values. Oral serine normalised the plasma and CSF levels of this amino acid and seemed to have some clinical effect. These data suggest that the elastin gene and the phosphoserine phosphatase gene might be closely linked. This seems to be the first report of phosphoserine phosphatase deficiency. PMID:9222972

  13. 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

  14. 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

  15. 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.

  16. 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

  17. 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.

  18. 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

  19. Prevalence of iron deficiency in children with Down syndrome.

    PubMed

    Dixon, Natalia E; Crissman, Blythe G; Smith, P Brian; Zimmerman, Sherri A; Worley, Gordon; Kishnani, Priya S

    2010-12-01

    To determine the prevalence of iron deficiency (ID) and iron deficiency anemia (IDA) in a sample of children with Down syndrome (DS) and to evaluate the effect of macrocytosis on the diagnosis of ID/IDA in these children. Children with DS ≥ 12 months of age who were followed at the Duke University Medical Center Comprehensive DS Clinic from December 2004 to March 2007 were screened for ID/IDA with a complete blood count, reticulocyte count, iron panel, and erythrocytic protoporphyrins. A total of 114 children were enrolled, with a median age of 4.7 years. ID was identified in 12 subjects (10%), and IDA was identified in 3 subjects (3%). ID/IDA would not have been accurately diagnosed in 13 of 15 subjects (86%) if red blood cell (RBC) indices alone had been used for screening. Abnormal RBC indices with low transferrin saturation were 100% sensitive for ID/ IDA screening. Prevalence of ID/IDA in children with DS was comparable with that in the general pediatric population. Macrocytosis had implications for screening of ID/IDA with only RBC indices. We suggest ID/IDA screening in DS children be done with a laboratory panel at least including complete blood count, reticulocyte count, transferrin saturation, and serum ferritin. Copyright © 2010 Mosby, Inc. All rights reserved.

  20. Relationship Between Vitamin D Deficiency and Markers of Metabolic Syndrome Among Overweight and Obese Adults.

    PubMed

    Kaseb, Fatemeh; Haghighyfard, Kimia; Salami, Maryam-Sadat; Ghadiri-Anari, Akram

    2017-06-01

    In recent years, metabolic syndrome, obesity, diabetes and cardiovascular disease has had a tremendous elevation growth. Many studies have demonstrated negative correlation between vitamin D deficiency and indexes of metabolic syndrome in obese patients. This study was designed to find the relation between vitamin D deficiency and markers of metabolic syndrome among overweight and obese adults referred to obesity center of Shahid Sadoughi hospital in 2014. Eighty-nine overweight and obese adults (79 women and 10 men), who 13 subjects were overweight and 76 subjects were obese were recruited in this cross-sectional study. Total cholesterol, high-density lipoprotein cholesterol, triglyceride, plasma glucose and vitamin D were measured. IDF criteria were used for identifying subjects with metabolic syndrome. Demographic questionnaire was completed. Statistical analysis was performed using SPSS version 16.0. Fisher exact test, logistic regression, and Spearman correlation coefficient were used. The frequency of vitamin D deficiency was 93.2%. According to IDF criteria, the frequency of metabolic syndrome was 36%. There was no significant relationship between vitamin D deficiency and metabolic syndrome. Among metabolic syndrome indicators, there was a significant direct relationship between vitamin D level with FBS (P=0.013) and SBP (P=0.023). There was no significant relationship between vitamin D deficiency and metabolic syndrome. Due to the lack of relationship between vitamin D deficiency and metabolic syndrome, small number of participants in this study and very low case of normal vitamin D level, further studies are needed.

  1. 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.

  2. 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.

  3. Nephrotic syndrome and thrombotic microangiopathy caused by cobalamin C deficiency.

    PubMed

    Koenig, Jens C; Rutsch, Frank; Bockmeyer, Clemens; Baumgartner, Matthias; Beck, Bodo B; Kranz, Brigitta; Konrad, Martin

    2015-07-01

    Cobalamin C (CblC) defects are inherited autosomal recessive disorders of vitamin B12 metabolism due to mutations in the MMACHC gene. Renal manifestations include thrombotic microangiopathy (TMA), acute or chronic renal failure, tubulointerstitial nephritis, and proximal renal tubular acidosis. However, reports about glomerular pathologies are scarce. A 4-year-old boy presented with nephrotic syndrome, arterial hypertension, and chronic anemia but no signs of hemolysis. Renal biopsy showed TMA with ischemic glomerular collapse, foot process effacement, and tubulointerstitial fibrosis. Elevated serum levels of homocysteine suggested a cobalamin C disorder. This was confirmed by the identification of compound heterozygous mutations in the MMACHC gene. Initial therapy consisted of antihypertensive treatment including angiotensin converting enzyme inhibitor (ACEi) leading to blood pressure control and a significant reduction of proteinuria. After a definite diagnosis of CblC deficiency, hydroxocobalamin was introduced. Thereafter, homocysteine levels decreased, anemia resolved, and a further decline of proteinuria with normalization of serum protein levels was noted. Renal function remained stable. Although uncommon, the clinical picture of CblC defects may be ruled by nephrotic syndrome mimicking glomerulonephritis, minimal change disease, or primary focal and segmental glomerulosclerosis. Key to a correct diagnosis is elevated serum levels of homocysteine, and a definite diagnosis can be confirmed by genetic testing.

  4. 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)

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

    PubMed

    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

    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). 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). 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. HIV may be one of the major causative agents of multiple benign giant esophageal ulcers in AIDS patients.

  6. 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

  7. 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…

  8. 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…

  9. 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…

  10. 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)

  11. 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)

  12. AIDS: Setting Policy, Educating Employees at Bank of America.

    ERIC Educational Resources Information Center

    Wagel, William H.

    1988-01-01

    Discusses how Bank of America has responded to the problem of acquired immune deficiency syndrome (AIDS) in the workplace by devising a comprehensive policy on life-threatening illnesses and initiating an employee education program on AIDS. (CH)

  13. 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…

  14. 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.

  15. 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.

  16. Teachers with AIDS.

    ERIC Educational Resources Information Center

    Strope, John L., Jr.

    1988-01-01

    Discusses the application of Section 504 of the Rehabilitation Act of 1973 as a legal theory available to an employee of a public school system who faces isolation, transfer, suspension, or termination because of Acquired Immune Deficiency Syndrome (AIDS). Addresses AIDS in the workplace and the law. (MLF)

  17. 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…

  18. 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…

  19. Teaching Children about AIDS.

    ERIC Educational Resources Information Center

    Koop, C. Everett

    1987-01-01

    Calls for more education as the immediate preventative measure against acquired immune deficiency syndrome (AIDS). Discusses the known ways that AIDS is transmitted and cautions that many innocent people may also contract the disease. Promotes the presentation of accurate and personally sensitive information to children. (TW)

  20. 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…

  1. 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)

  2. 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].

  3. 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"…

  4. 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.

  5. Prevalence of Creatine Deficiency Syndromes in Children With Nonsyndromic Autism.

    PubMed

    Schulze, Andreas; Bauman, Margaret; Tsai, Anne Chun-Hui; Reynolds, Ann; Roberts, Wendy; Anagnostou, Evdokia; Cameron, Jessie; Nozzolillo, Alixandra A; Chen, Shiyi; Kyriakopoulou, Lianna; Scherer, Stephen W; Loh, Alvin

    2016-01-01

    Creatine deficiency may play a role in the neurobiology of autism and may represent a treatable cause of autism. The goal of the study was to ascertain the prevalence of creatine deficiency syndromes (CDSs) in children with autism spectrum disorder (ASD). In a prospective multicenter study, 443 children were investigated after a confirmed diagnosis of ASD. Random spot urine screening for creatine metabolites (creatine, guanidinoacetate, creatinine, and arginine) with liquid chromatography-tandem mass spectrometry and second-tier testing with high-performance liquid chromatography methodology was followed by recall testing in 24-hour urines and confirmatory testing by Sanger-based DNA sequencing of GAMT, GATM, and SLC6A8 genes. Additional diagnostic tests included plasma creatine metabolites and in vivo brain proton magnetic resonance spectroscopy. The creatine metabolites in spot urine in the autism group were compared with 128 healthy controls controlled for age. In 443 subjects with ASD investigated for CDS, we had 0 events (event: 0, 95% confidence interval 0-0.0068), therefore with 95% confidence the prevalence of CDS is <7 in 1000 children with ASD. The autism and control groups did not vary in terms of creatine metabolites (P > .0125) in urine. Our study revealed a very low prevalence of CDS in children with nonsyndromic ASD and no obvious association between creatine metabolites and autism. Unlike our study population, we expect more frequent CDS among children with severe developmental delay, speech impairment, seizures, and movement disorders in addition to impairments in social communication, restricted interests, and repetitive behaviors. Copyright © 2016 by the American Academy of Pediatrics.

  6. 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

  7. 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.

  8. 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.

  9. 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

  10. 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.

  11. 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

  12. Motor hyperactivity of the iron-deficient rat - an animal model of restless legs syndrome.

    PubMed

    Lai, Yuan-Yang; Cheng, Yu-Hsuan; Hsieh, Kung-Chiao; Nguyen, Darian; Chew, Keng-Tee; Ramanathan, Lalini; Siegel, Jerome M

    2017-08-26

    Abnormal striatal dopamine transmission has been hypothesized to cause restless legs syndrome. Dopaminergic drugs are commonly used to treat restless legs syndrome. However, they cause adverse effects with long-term use. An animal model would allow the systematic testing of potential therapeutic drugs. A high prevalence of restless legs syndrome has been reported in iron-deficient anemic patients. We hypothesized that the iron-deficient animal would exhibit signs similar to those in restless legs syndrome patients. After baseline polysomnographic recordings, iron-deficient rats received pramipexole injection. Then, iron-deficient rats were fed a standard rodent diet, and polysomnographic recording were performed for 2 days each week for 4 weeks. Iron-deficient rats have low hematocrit levels and show signs of restless legs syndrome: sleep fragmentation and periodic leg movements in wake and in slow-wave sleep. Iron-deficient rats had a positive response to pramipexole treatment. After the iron-deficient rats were fed the standard rodent diet, hematocrit returned to normal levels, and sleep quality improved, with increased average duration of wake and slow-wave sleep episodes. Periodic leg movements decreased during both waking and sleep. Hematocrit levels positively correlated with the average duration of episodes in wake and in slow-wave sleep and negatively correlated with periodic leg movements in wake and in sleep. Western blot analysis showed that striatal dopamine transporter levels were higher in iron-deficient rats. The iron-deficient rat is a useful animal model of iron-deficient anemic restless legs syndrome. © 2017 International Parkinson and Movement Disorder Society. © 2017 International Parkinson and Movement Disorder Society.

  13. Paroxysmal Exercise-induced Dyskinesias Caused by GLUT1 Deficiency Syndrome

    PubMed Central

    Mongin, Marie; Mezouar, Nicolas; Dodet, Pauline; Vidailhet, Marie; Roze, Emmanuel

    2016-01-01

    Background Glucose transporter type 1 deficiency syndrome is due to de novo mutations in the SLC2A1 gene encoding the glucose transporter type 1. Phenomenology Shown Paroxysmal motor manifestations induced by exercise or fasting may be the main manifestations of glucose transporter type 1 deficiency syndrome. Educational Value Proper identification of the paroxysmal events and early diagnosis is important since the disease is potentially treatable. PMID:27351150

  14. 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.

  15. Unique DNA repair gene variations and potential associations with the primary antibody deficiency syndromes IgAD and CVID.

    PubMed

    Offer, Steven M; Pan-Hammarström, Qiang; Hammarström, Lennart; Harris, Reuben S

    2010-08-18

    Despite considerable effort, the genetic factors responsible for >90% of the antibody deficiency syndromes IgAD and CVID remain elusive. To produce a functionally diverse antibody repertoire B lymphocytes undergo class switch recombination. This process is initiated by AID-catalyzed deamination of cytidine to uridine in switch region DNA. Subsequently, these residues are recognized by the uracil excision enzyme UNG2 or the mismatch repair proteins MutSalpha (MSH2/MSH6) and MutLalpha (PMS2/MLH1). Further processing by ubiquitous DNA repair factors is thought to introduce DNA breaks, ultimately leading to class switch recombination and expression of a different antibody isotype. Defects in AID and UNG2 have been shown to result in the primary immunodeficiency hyper-IgM syndrome, leading us to hypothesize that additional, potentially more subtle, DNA repair gene variations may underlie the clinically related antibody deficiencies syndromes IgAD and CVID. In a survey of twenty-seven candidate DNA metabolism genes, markers in MSH2, RAD50, and RAD52 were associated with IgAD/CVID, prompting further investigation into these pathways. Resequencing identified four rare, non-synonymous alleles associated with IgAD/CVID, two in MLH1, one in RAD50, and one in NBS1. One IgAD patient carried heterozygous non-synonymous mutations in MLH1, MSH2, and NBS1. Functional studies revealed that one of the identified mutations, a premature RAD50 stop codon (Q372X), confers increased sensitivity to ionizing radiation. Our results are consistent with a class switch recombination model in which AID-catalyzed uridines are processed by multiple DNA repair pathways. Genetic defects in these DNA repair pathways may contribute to IgAD and CVID.

  16. 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.

  17. 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…

  18. 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

  19. 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.

  20. 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).

  1. Growth Hormone Deficiency in a Case of Crouzon Syndrome with Hydrocephalus

    PubMed Central

    Wen, Mei-Hong; Hsiao, Hui-Pin; Chao, Mei-Chyn; Tsai, Fuu-Jen

    2010-01-01

    Crouzon syndrome is one of the most common craniofacial syndromes and is inherited as autosomal dominant with variable expression. We report an 11 and a half-year-old boy with Crouzon syndrome with severe growth retardation. He had hydrocephalus since infancy and recently suffered from frequent dizziness. His bone age was only 5 years according to the Greulich and Pyle atlas. Magnetic resonance imaging showed shallow orbits, obstructive hydrocephalus, and cerebellar tonsil herniation. Growth hormone provocative tests revealed a reduced peak growth hormone response in both insulin and clonidine tests. Severe iron deficiency anemia was noted at the same time. Molecular analysis identified a common mutation point of Cys278Phe for Crouzon syndrome in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene. Since growth retardation is not a common feature of Crouzon syndrome, we reviewed the literature for the incidence of hydrocephalus in Crouzon syndrome and the association with growth hormone deficiency. PMID:20585360

  2. Growth hormone deficiency in a case of crouzon syndrome with hydrocephalus.

    PubMed

    Wen, Mei-Hong; Hsiao, Hui-Pin; Chao, Mei-Chyn; Tsai, Fuu-Jen

    2010-01-01

    Crouzon syndrome is one of the most common craniofacial syndromes and is inherited as autosomal dominant with variable expression. We report an 11 and a half-year-old boy with Crouzon syndrome with severe growth retardation. He had hydrocephalus since infancy and recently suffered from frequent dizziness. His bone age was only 5 years according to the Greulich and Pyle atlas. Magnetic resonance imaging showed shallow orbits, obstructive hydrocephalus, and cerebellar tonsil herniation. Growth hormone provocative tests revealed a reduced peak growth hormone response in both insulin and clonidine tests. Severe iron deficiency anemia was noted at the same time. Molecular analysis identified a common mutation point of Cys278Phe for Crouzon syndrome in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene. Since growth retardation is not a common feature of Crouzon syndrome, we reviewed the literature for the incidence of hydrocephalus in Crouzon syndrome and the association with growth hormone deficiency.

  3. 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.

  4. Paroxysmal eye–head movements in Glut1 deficiency syndrome

    PubMed Central

    Engelstad, Kristin; Kane, Steven A.; Goldberg, Michael E.; De Vivo, Darryl C.

    2017-01-01

    Objective: To describe a characteristic paroxysmal eye–head movement disorder that occurs in infants with Glut1 deficiency syndrome (Glut1 DS). Methods: We retrospectively reviewed the medical charts of 101 patients with Glut1 DS to obtain clinical data about episodic abnormal eye movements and analyzed video recordings of 18 eye movement episodes from 10 patients. Results: A documented history of paroxysmal abnormal eye movements was found in 32/101 patients (32%), and a detailed description was available in 18 patients, presented here. Episodes started before age 6 months in 15/18 patients (83%), and preceded the onset of seizures in 10/16 patients (63%) who experienced both types of episodes. Eye movement episodes resolved, with or without treatment, by 6 years of age in 7/8 patients with documented long-term course. Episodes were brief (usually <5 minutes). Video analysis revealed that the eye movements were rapid, multidirectional, and often accompanied by a head movement in the same direction. Eye movements were separated by clear intervals of fixation, usually ranging from 200 to 800 ms. The movements were consistent with eye–head gaze saccades. These movements can be distinguished from opsoclonus by the presence of a clear intermovement fixation interval and the association of a same-direction head movement. Conclusions: Paroxysmal eye–head movements, for which we suggest the term aberrant gaze saccades, are an early symptom of Glut1 DS in infancy. Recognition of the episodes will facilitate prompt diagnosis of this treatable neurodevelopmental disorder. PMID:28341645

  5. Glucose transporter type I deficiency syndrome: epilepsy phenotypes and outcomes.

    PubMed

    Pong, Amanda W; Geary, Brianna R; Engelstad, Kris M; Natarajan, Ashwini; Yang, Hong; De Vivo, Darryl C

    2012-09-01

    Glut 1 deficiency syndrome (DS) is defined by hypoglycorrhachia with normoglycemia, acquired microcephaly, episodic movements, and epilepsy refractory to standard antiepileptic drugs (AEDs). Gold standard treatment is the ketogenic diet (KD), which provides ketones to treat neuroglycopenia. Our purpose is (1) to describe epilepsy phenotypes in a large Glut 1 DS cohort, to facilitate diagnosis; and (2) to describe cases in which non-KD agents achieved seizure freedom (SF), highlighting potential adjunctive treatments. Retrospective review of 87 patients with Glut 1 DS (45% female, age range 3 months-35 years, average diagnosis 6.5 years) at Columbia University, from 1989 to 2010. Seventy-eight (90%) of 87 patients had epilepsy, with average onset at 8 months. Seizures were mixed in 68% (53/78): generalized tonic-clonic (53%), absence (49%), complex partial (37%), myoclonic (27%), drop (26%), tonic (12%), simple partial (3%), and spasms (3%). We describe the first two cases of spasms in Glut 1 DS. Electrophysiologic abnormalities were highly variable over time; only 13 (17%) of 75 had exclusively normal findings. KD was used in 82% (64/78); 67% (41/61) were seizure-free and 68% of seizure-free patients (28/41) resolved in <1 week and 76% (31/41) in <1 month. Seven patients achieved SF with broad agents only. Glut 1 DS is a genetic metabolic encephalopathy with variable focal and multifocal seizure types and electroencephalographic findings. Infants with seizures, spasms, or paroxysmal events should be tested for Glut 1 DS. Evidence is insufficient to recommend specific AEDs as alternatives to KD. Early diagnosis and initiation of KD and prevention of unnecessary AED trials in Glut 1 DS are important goals for the treatment of children with epilepsy. Wiley Periodicals, Inc. © 2012 International League Against Epilepsy.

  6. Paroxysmal eye-head movements in Glut1 deficiency syndrome.

    PubMed

    Pearson, Toni S; Pons, Roser; Engelstad, Kristin; Kane, Steven A; Goldberg, Michael E; De Vivo, Darryl C

    2017-04-25

    To describe a characteristic paroxysmal eye-head movement disorder that occurs in infants with Glut1 deficiency syndrome (Glut1 DS). We retrospectively reviewed the medical charts of 101 patients with Glut1 DS to obtain clinical data about episodic abnormal eye movements and analyzed video recordings of 18 eye movement episodes from 10 patients. A documented history of paroxysmal abnormal eye movements was found in 32/101 patients (32%), and a detailed description was available in 18 patients, presented here. Episodes started before age 6 months in 15/18 patients (83%), and preceded the onset of seizures in 10/16 patients (63%) who experienced both types of episodes. Eye movement episodes resolved, with or without treatment, by 6 years of age in 7/8 patients with documented long-term course. Episodes were brief (usually <5 minutes). Video analysis revealed that the eye movements were rapid, multidirectional, and often accompanied by a head movement in the same direction. Eye movements were separated by clear intervals of fixation, usually ranging from 200 to 800 ms. The movements were consistent with eye-head gaze saccades. These movements can be distinguished from opsoclonus by the presence of a clear intermovement fixation interval and the association of a same-direction head movement. Paroxysmal eye-head movements, for which we suggest the term aberrant gaze saccades, are an early symptom of Glut1 DS in infancy. Recognition of the episodes will facilitate prompt diagnosis of this treatable neurodevelopmental disorder. Copyright © 2017 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

  7. 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).

  8. 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.

  9. 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

  10. 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.

  11. [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.

  12. 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.

  13. [Urine metabonomic study of intervention effects of Morinda officinalis how. on 'kidney-yang deficiency syndrome'].

    PubMed

    Zou, Zhong-jie; Xie, Yuan-yuan; Gong, Meng-juan; Han, Bin; Wang, Shu-mei; Liang, Sheng-wang

    2013-11-01

    To investigate the intervention effects of Morinda officinalis How. on 'Kidney-yang deficiency syndrome' induced by hydrocortisone in rats, the metabolic profiles of rat urine were characterized using proton nuclear magnetic resonance and principal component analysis (PCA) was applied to study the trajectory of urinary metabolic phenotype of rats with 'Kidney-yang deficiency syndrome' under administration of M. officinalis at different time points. Meanwhile, the intervention effects of M. officinalis on urinary metabolic potential biomarkers associated with 'Kidney-yang deficiency syndrome' were also discussed. The experimental results showed that in accordance to the increased time of administration, an obvious tendency was observed that clustering of the treatment group moved gradually closed to that of the control group. Eight potential biomarkers including citrate, succinate, alpha-ketoglutarate, lactate, betaine, sarcosine, alanine and taurine were definitely up- or down-regulated. In conclusion, the effectiveness of M. oficinalis on 'Kidney-yang deficiency syndrome' is proved using the established metabonomic method and the regulated metabolic pathways involve energy metabolism, transmethylation and transportation of amine. Meanwhile, the administration of M. officinalis can alleviate the kidney impairment induced by 'Kidney-yang deficiency syndrome'.

  14. Reward deficiency syndrome: genetic aspects of behavioral disorders.

    PubMed

    Comings, D E; Blum, K

    2000-01-01

    The dopaminergic and opioidergic reward pathways of the brain are critical for survival since they provide the pleasure drives for eating, love and reproduction; these are called 'natural rewards' and involve the release of dopamine in the nucleus accumbens and frontal lobes. However, the same release of dopamine and production of sensations of pleasure can be produced by 'unnatural rewards' such as alcohol, cocaine, methamphetamine, heroin, nicotine, marijuana, and other drugs, and by compulsive activities such as gambling, eating, and sex, and by risk taking behaviors. Since only a minority of individuals become addicted to these compounds or behaviors, it is reasonable to ask what factors distinguish those who do become addicted from those who do not. It has usually been assumed that these behaviors are entirely voluntary and that environmental factors play the major role; however, since all of these behaviors have a significant genetic component, the presence of one or more variant genes presumably act as risk factors for these behaviors. Since the primary neurotransmitter of the reward pathway is dopamine, genes for dopamine synthesis, degradation, receptors, and transporters are reasonable candidates. However, serotonin, norepinephrine, GABA, opioid, and cannabinoid neurons all modify dopamine metabolism and dopamine neurons. We have proposed that defects in various combinations of the genes for these neurotransmitters result in a Reward Deficiency Syndrome (RDS) and that such individuals are at risk for abuse of the unnatural rewards. Because of its importance, the gene for the [figure: see text] dopamine D2 receptor was a major candidate gene. Studies in the past decade have shown that in various subject groups the Taq I A1 allele of the DRD2 gene is associated with alcoholism, drug abuse, smoking, obesity, compulsive gambling, and several personality traits. A range of other dopamine, opioid, cannabinoid, norepinephrine, and related genes have since been

  15. 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…

  16. 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…

  17. 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…

  18. [Epidemiological characteristics of the acquired immunodeficiency syndrome (AIDS) in connection with the activities of maternal health care and family planning services].

    PubMed

    Vasilev, D; Mekhandzhieva, V

    1987-01-01

    Various epidemiological aspects of acquired immune deficiency syndrome (AIDS) are reviewed with special emphasis on the risk groups, the increasing role of heterosexual transmission, and possibilities of perinatal transmission and infection. In September of 1986, a total of 31,646 cases of AIDS were reported worldwide. AIDS cases were reported in virtually all countries. The average incidence of the disease (per 100,000) ranged from 9 in US to 1-1.2 in Europe, and 17-18 in Central Africa. In US, AIDS became a leading cause of infant mortality. Progressive increase in the incidence of heterosexual transmission poses a threat to the general population and increases the risk of perinatal transmission. During vaginal intercourse both partners have an equal chance to get infected with AIDS. The presence of other venereal diseases was found to increase the risk of AIDS transmission. Promiscuity was shown to increase the risk of AIDS. In Uganda, 14% of pregnant women were HIV seropositive. AIDS transmission was reported following blood transfusion during cesarean section. Almost 60% of infected newborn infants die within 1 month of birth. It was concluded that AIDS is a global social and medical problem, and in the absence of an effective cure or vaccine, the most important preventive measures are changes in sex behavior, the use of contraceptive agents and devices, and education of the general population and women of child-bearing age.

  19. Cheminformatics-aided pharmacovigilance: application to Stevens-Johnson Syndrome

    PubMed Central

    Low, Yen S; Caster, Ola; Bergvall, Tomas; Fourches, Denis; Zang, Xiaoling; Norén, G Niklas; Rusyn, Ivan; Edwards, Ralph

    2016-01-01

    Objective Quantitative Structure-Activity Relationship (QSAR) models can predict adverse drug reactions (ADRs), and thus provide early warnings of potential hazards. Timely identification of potential safety concerns could protect patients and aid early diagnosis of ADRs among the exposed. Our objective was to determine whether global spontaneous reporting patterns might allow chemical substructures associated with Stevens-Johnson Syndrome (SJS) to be identified and utilized for ADR prediction by QSAR models. Materials and Methods Using a reference set of 364 drugs having positive or negative reporting correlations with SJS in the VigiBase global repository of individual case safety reports (Uppsala Monitoring Center, Uppsala, Sweden), chemical descriptors were computed from drug molecular structures. Random Forest and Support Vector Machines methods were used to develop QSAR models, which were validated by external 5-fold cross validation. Models were employed for virtual screening of DrugBank to predict SJS actives and inactives, which were corroborated using knowledge bases like VigiBase, ChemoText, and MicroMedex (Truven Health Analytics Inc, Ann Arbor, Michigan). Results We developed QSAR models that could accurately predict if drugs were associated with SJS (area under the curve of 75%–81%). Our 10 most active and inactive predictions were substantiated by SJS reports (or lack thereof) in the literature. Discussion Interpretation of QSAR models in terms of significant chemical descriptors suggested novel SJS structural alerts. Conclusions We have demonstrated that QSAR models can accurately identify SJS active and inactive drugs. Requiring chemical structures only, QSAR models provide effective computational means to flag potentially harmful drugs for subsequent targeted surveillance and pharmacoepidemiologic investigations. PMID:26499102

  20. 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…

  1. 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.

  2. [Cornelia de Lange Syndrome and multiple hormonal deficiency, an unusual association. Clinical case].

    PubMed

    Mora-Bautista, Víctor M; Mendoza-Rojas, Víctor; Contreras-García, Gustavo A

    2017-06-01

    Cornelia de Lange syndrome is a genetic disease characterized by distinctive facial features, failure to thrive, microcephaly and several malformations associated. Its main endocrinological features are anomalies of the genitalia. We present a 13-year-old boy, who suffered from complicated aspiration pneumonia and showed Cornelia de Lange syndrome phenotype, with global developmental delay, suction-swallowing abnormalities, short stature and abnormal genitalia associated. His bone age was delayed, so he underwent full endocrinological panel. Central hypothyroidism, growth hormone deficiency and low luteinizing hormone-follicle-stimulating hormone levels were observed and multiple pituitary hormone deficiencies diagnosis was made. Basal cortisol, adrenocorticotropic hormone and prolactin levels were normal. He received thyroid hormonal substitution. Multiple pituitary hormone deficiencies are an unusual feature of De Lange syndrome. We suggest evaluating all different endocrine axes in these patients. Sociedad Argentina de Pediatría.

  3. Reversible white matter lesions during ketogenic diet therapy in glucose transporter 1 deficiency syndrome.

    PubMed

    Shiohama, Tadashi; Fujii, Katsunori; Takahashi, Satoru; Nakamura, Fumito; Kohno, Yoichi

    2013-12-01

    Glucose transporter type 1 deficiency syndrome is caused by brain energy failure resulting from a disturbance in glucose transport. We describe a 4-year-old boy with classical type glucose transporter type 1 deficiency syndrome with a heterozygous splice acceptor site mutation (c.517-2A>G) in the SLCA2A1 gene. We initiated a ketogenic diet at 4 months of age. However, even though his condition was good during ketogenic diet therapy, multiple cerebral white matter and right cerebellum lesions appeared at 9 months of age. The lesions in the cerebral white matter subsequently disappeared, indicating that white matter lesions during diet therapy may be reversible and independent of the ketogenic diet. This is the first report of reversible white matter lesions during ketogenic diet therapy in glucose transporter type 1 deficiency syndrome. Copyright © 2013 Elsevier Inc. All rights reserved.

  4. 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…

  5. 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…

  6. 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…

  7. 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…

  8. 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.

  9. 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

  10. 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.

  11. Audiological and electrophysiological evaluation of children with acquired immunodeficiency syndrome (AIDS).

    PubMed

    Matas, Carla Gentile; Leite, Renata Aparecida; Magliaro, Fernanda Cristina Leite; Gonçalves, Isabela Crivellaro

    2006-08-01

    We examined the peripheral auditory system and the auditory brainstem pathway of children with Acquired Immunodeficiency Syndrome (AIDS). One hundred and one children, 51 with AIDS diagnosis and 50 normal children were evaluated. Audiological assessment included immittance measures, pure tone and speech audiometry and auditory brainstem response (ABR). The children with AIDS more frequently had abnormal results than did their matched controls, presenting either peripheral or auditory brainstem impairment. We suggest that AIDS be considered a risk factor for peripheral and/or auditory brainstem disorders. Further research should be carried out to investigate the auditory effects of HIV infection along the auditory pathway.

  12. [Relationship between vitamin D deficiency and metabolic syndrome in adult population of the Community of Madrid].

    PubMed

    Gradillas-García, Antonio; Álvarez, Julia; Rubio, José Antonio; de Abajo, Francisco J

    2015-04-01

    Previous studies have suggested an association between MS and vitamin D deficiency, but data are not conclusive. This study was intended to find out if metabolic syndrome, according to the 2009 IDF/AHA/NHLBI, is associated to the presence of vitamin D deficiency. A cross-sectional study was conducted on a sample of 326 subjects aged 18 years or older, recruited from a health center in Alcalá de Henares. Participants underwent an interview and a standardized clinical examination. In a second visit, blood tests were performed in 255 subjects to quantify serum levels of 25-hydroxyvitamin D (25 OH-VitD) and different laboratory parameters associated to MS. The association between vitamin D deficiency and metabolic syndrome (and each of its components) was examined. In the study population, MS prevalence was 36.1% and prevalence of vitamin D deficiency (25 OH-Vit D<20 ng/mL) was 56.3%. MS was more common in the group of patients with vitamin D deficiency (43.4%) than in the group with no deficiency (26.8%, P=.006), with an estimated prevalence ratio of 1.62 (95% CI: 1.13-2.31). Adjustment for age, sex, and body mass index did not change such association. There is a significant association between vitamin D deficiency and MS. Both conditions are highly prevalent in our population. Copyright © 2014 SEEN. Published by Elsevier España, S.L.U. All rights reserved.

  13. 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.

  14. 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.

  15. 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.

  16. 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

  17. 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.

  18. 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…

  19. 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…

  20. 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…

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

    USDA-ARS?s Scientific Manuscript database

    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...

  2. 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…

  3. Hearing loss and acquired immune deficiency syndrome: systematic review.

    PubMed

    Araújo, Eliene da Silva; Zucki, Fernanda; Corteletti, Lilian Cássia Bórnia Jacob; Lopes, Andrea Cintra; Feniman, Mariza Ribeiro; Alvarenga, Kátia de Freitas

    2012-01-01

    To investigate the occurrence of hearing loss in individuals with HIV/AIDS and their characterization regarding type and degree. It was conducted a systematic review of the literature found on the electronic databases PubMed, EMBASE, ADOLEC, IBECS, Web of Science, Scopus, Lilacs and SciELO. The search strategy was directed by a specific question: "Is hearing loss part of the framework of HIV/AIDS manifestations?", and the selection criteria of the studies involved coherence with the proposed theme, evidence levels 1, 2 or 3, and language (Portuguese, English and Spanish). We found 698 studies. After an analysis of the title and abstract, 91 were selected for full reading. Out of these, 38 met the proposed criteria and were included on the review. The studies reported presence of conductive, sensorineural, and mixed hearing loss, of variable degrees and audiometric configurations, in addition to tinnitus and vestibular disorders. The etiology can be attributed to opportunistic infections, ototoxic drugs or to the action of virus itself. The auditory evoked potentials have been used as markers of neurological alterations, even in patients with normal hearing. HIV/AIDS patients may present hearing loss. Thus, programs for prevention and treatment of AIDS must involve actions aimed at auditory health.

  4. 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.

  5. 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…

  6. Social work and AIDS.

    PubMed

    Furstenberg, A L; Olson, M M

    1984-01-01

    AIDS (Acquired Immune Deficiency Syndrome) is a new contagious disease for which no cause or cure is known at present. The majority of people who have contracted AIDS is gay men. This paper examines individual and societal responses to this illness and to homosexuality that create issues for social work practice. These are unique to AIDS and at the same time exemplary of issues in all of health care. General principles of practice are applied to the specifics of dealing with AIDS and social work tasks with patients, families and significant others, health care staff, the community and policy makers are identified.

  7. 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…

  8. Living with AIDs.

    ERIC Educational Resources Information Center

    Graubard, Stephen R., Ed.

    1989-01-01

    Because events move swiftly in the contemporary world, it is easy to forget that acquired immune deficiency syndrome (AIDS) is a phenomenon of the 1980s. It is generally agreed that this is only the very beginning of a scientific investigation that will go on well into the 21st century. This issue attempts to provide some of the basic information…

  9. Good's syndrome, CVID, and selective antibody deficiency in patients with chronic rhinosinusitis.

    PubMed

    Frieri, Marianne

    2014-06-01

    Good's syndrome and common variable immune deficiency (CVID) are associated with chronic rhinosinusitis. Good's syndrome is characterized by hypogammaglobulinemia, B-cell depletion, variable defects in cellular immunity and thymoma. Immunodeficiency and recurrent infections can initially present after thymectomy. The pathogenesis can involve cytokines from bone marrow along with genetic defects. Intravenous gamma globulin (IVIG) restores defective signaling and can reestablish immune homeostasis. IVIG at regular intervals is the most effective way to improve the clinical symptoms and reduce patient mortality. Increased awareness of the clinical and immunological profile of this syndrome may increase its early recognition. CVID patients have hypogammaglobulinemia, respond to IVIG and have a dysregulated antimicrobial peptide response to pathogenic bacteria in the upper respiratory tract. This article reviewed selected literature on Good's syndrome, described an unusual case of Good's syndrome, CVID including SAD related to chronic rhinosinusitis.

  10. 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

  11. Isolated vitamin D deficiency is not associated with nonthyroidal illness syndrome, but with thyroid autoimmunity.

    PubMed

    Arslan, Muyesser Sayki; 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

    This study aimed to compare thyroid functions, thyroid autoantibodies, and the existence of nonthyroidal illness syndrome (NTIS) according to vitamin D level. The study included age- and BMI-matched healthy volunteers with and without vitamin D deficiency. In addition, the nonthyroidal illness syndrome status was evaluated. 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. 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.

  12. [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. Copyright © 2013 SESPAS. Published by Elsevier Espana. All rights reserved.

  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. 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

  15. 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

  16. Treacher Collins Syndrome: A Case Report and a Brief Review on Diagnostic Aids.

    PubMed

    Shetty, Sowmya B; Thomas, Ann; Pidamale, Raghavendra

    2011-01-01

    Treacher Collins syndrome (Mandibulofacial dysostosis) is characterized by deafness, hypoplasia of facial bones (mandible, maxilla and cheek bone), antimongoloid slant of palpebral fissures, coloboma of the lower lid and bilateral anomalies of the auricle. Hypoplasia of the facial bones may be the first indicator of the disorder. We present a case report of Treacher Collins syndrome with their extraoral findings, intraoral findings and their treatment plan. We have also included the various etiological factors, clinical diagnostic aids, and multidisciplinary team approach.

  17. Treacher Collins Syndrome: A Case Report and a Brief Review on Diagnostic Aids

    PubMed Central

    Thomas, Ann; Pidamale, Raghavendra

    2011-01-01

    Treacher Collins syndrome (Mandibulofacial dysostosis) is characterized by deafness, hypoplasia of facial bones (mandible, maxilla and cheek bone), antimongoloid slant of palpebral fissures, coloboma of the lower lid and bilateral anomalies of the auricle. Hypoplasia of the facial bones may be the first indicator of the disorder. We present a case report of Treacher Collins syndrome with their extraoral findings, intraoral findings and their treatment plan. We have also included the various etiological factors, clinical diagnostic aids, and multidisciplinary team approach. PMID:27678233

  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. Regional brain structural dysmorphology in human immunodeficiency virus infection: effects of acquired immune deficiency syndrome, alcoholism, and age.

    PubMed

    Pfefferbaum, Adolf; Rosenbloom, Margaret J; Sassoon, Stephanie A; Kemper, Carol A; Deresinski, Stanley; Rohlfing, Torsten; Sullivan, Edith V

    2012-09-01

    Human immunodeficiency virus (HIV) infection and alcoholism each carries liability for disruption of brain structure and function integrity. Despite considerable prevalence of HIV-alcoholism comorbidity, few studies examined the potentially heightened burden of disease comorbidity. Participants were 342 men and women: 110 alcoholics, 59 with HIV infection, 65 with HIV infection and alcoholism, and 108 healthy control subjects. This design enabled examination of independent and combined effects of HIV infection and alcoholism along with other factors (acquired immune deficiency syndrome [AIDS]-defining events, hepatitis C infection, age) on regional brain volumes derived from T1-weighted magnetic resonance images. Brain volumes, expressed as Z scores corrected for intracranial volume and age, were measured in 20 tissue and 5 ventricular and sulcal regions. The most profound and consistent volume deficits occurred with alcohol use disorders, notable in the cortical mantle, insular and anterior cingulate cortices, thalamus, corpus callosum, and frontal sulci. The HIV-only group had smaller thalamic and larger frontal sulcal volumes than control subjects. HIV disease-related factors associated with greater volume abnormalities included CD4 cell count nadir, clinical staging, history of AIDS-defining events, infection age, and current age. Longer sobriety and less lifetime alcohol consumption were predictive of attenuated brain volume abnormalities in both alcohol groups. Having HIV infection with alcoholism and AIDS had an especially poor outcome on brain structures. That longer periods of sobriety and less lifetime alcohol consumption were predictive of attenuated brain volume abnormalities encourages the inclusion of alcohol recovery efforts in HIV/AIDS therapeutic settings. Copyright © 2012 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.

  20. X-linked inhibitor of apoptosis protein deficiency: more than an X-linked lymphoproliferative syndrome.

    PubMed

    Aguilar, Claire; Latour, Sylvain

    2015-05-01

    X-linked inhibitor of apoptosis (XIAP) deficiency (also known as X-linked lymphoproliferative syndrome type 2, XLP-2) is a rare primary immunodeficiency. Since the disease was first described in 2006, more than 70 patients suffering from XIAP-deficiency have been reported, thus extending the clinical presentations of the disease. The main clinical features of XLP-2 are (i) elevated susceptibility to hemophagocytic lymphohistiocytosis (HLH, frequently in response to infection with Epstein-Barr virus (EBV)), (ii) recurrent splenomegaly and (iii) inflammatory bowel disease (IBD) with the characteristics of Crohn's disease. XIAP deficiency is now considered to be one of the genetic causes of IBD in infancy. Although XIAP is an anti-apoptotic molecule, it is also involved in many other pathways, including the regulation of innate immunity and inflammation. XIAP is required for signaling through the Nod-like receptors NOD1 and 2, which are intracellular sensors of bacterial infection. XIAP-deficient T cells (including innate natural killer T cells and mucosal-associated invariant T cells) are overly sensitive to apoptosis. NOD2 function is impaired in XIAP-deficient monocytes. However, the physiopathological mechanisms underlying the clinical phenotypes in XIAP deficiency, notably the HLH and the EBV susceptibility, are not well understood. Here, we review the clinical aspects, molecular etiology and physiopathology of XIAP deficiency.

  1. Vitamin D deficiency in patients with intestinal malabsorption syndromes--think in and outside the gut.

    PubMed

    Margulies, Samantha L; Kurian, Divya; Elliott, Mark S; Han, Zhiyong

    2015-11-01

    There is a very high prevalence of vitamin D deficiency, which is defined by a serum level of 25-hydroxyvitamin D [25(OH)D] of lower than 20 ng/mL, in all populations of the world. Unfortunately, the prevalence of vitamin D deficiency in patients with intestinal malabsorption syndromes, including cystic fibrosis (CF), celiac disease (CD), short bowel syndrome and inflammatory bowel disease (IBD), is higher than that in the general population, indicating the presence of disease-specific causative factors. In this review, we aimed to present clinical findings to highlight the roles of insufficient exposure to sunlight and inflammation in the development of vitamin D deficiency in patients with intestinal malabsorption syndromes. Furthermore, we aimed to present experimental evidence that supported a role of vitamin D deficiency in the pathogenesis of IBD. Finally, we reviewed clinical intervention strategies aiming to normalize vitamin D status in and even to improve the conditions of patients and to discuss certain issues that needed to be addressed in future research. © 2015 Chinese Medical Association Shanghai Branch, Chinese Society of Gastroenterology, Renji Hospital Affiliated to Shanghai Jiaotong University School of Medicine and Wiley Publishing Asia Pty Ltd.

  2. 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.

  3. 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.

  4. Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency.

    PubMed

    Quinonez, Shane C; Leber, Steven M; Martin, Donna M; Thoene, Jess G; Bedoyan, Jirair K

    2013-01-01

    We present the biochemical and molecular diagnosis of dihydrolipoamide dehydrogenase deficiency (also known as E3 deficiency) and Leigh syndrome in a 14-year-old girl with learning disability and episodic encephalopathy and ketoacidosis. The diagnosis was based on values of plasma amino acids and urine organic acids, obtained during acute encephalopathy, lactic ketoacidosis, and liver failure, precipitated by infectious mononucleosis. Enzymatic and molecular analyses confirmed dihydrolipoamide dehydrogenase deficiency. E3 activity from cultured skin fibroblasts ranged from 9-29% of the mean. Molecular analysis revealed compound heterozygosity for novel and known pathogenic mutations (p.I353T and p.G136del, respectively). The patient received dietary augmentation and continuous renal replacement therapy, given her severe, persistent lactic acidosis. Acute decompensation resulted in magnetic resonance imaging changes involving the posterior aspect of the putamen, lateral, and medial thalami, substantia nigra, lateral geniculate bodies, and splenium of the corpus callosum. The cortex and subcortical white matter of the right and left occipital lobes and perirolandic region were also affected. In our review of molecularly confirmed patients with dihydrolipoamide dehydrogenase deficiency, Leigh syndrome was common. Our patient, whose most severe decompensation occurred at a more advanced age than previously reported, provides further evidence of the heterogeneous presentations of dihydrolipoamide dehydrogenase deficiency. Copyright © 2013 Elsevier Inc. All rights reserved.

  5. Premature aging in RecQ helicase-deficient human syndromes.

    PubMed

    Mohaghegh, Payam; Hickson, Ian D

    2002-11-01

    The RecQ family of DNA helicases have potential roles in DNA repair, replication and/or recombination pathways. In humans, a defect in the RecQ family helicases encoded by the BLM, WRN and RECQ4 genes gives rise to Bloom's (BS), Werner's (WS) and Rothmund-Thomson (RTS) syndromes, respectively. These disorders are associated with cancer predisposition and/or premature aging. In Bloom's syndrome, affected individuals are predisposed to many types of cancer at an early age. Werner's syndrome is a premature aging disorder with a complex phenotype, which includes many age-related disorders that develop from puberty, including greying and thinning of the hair, bilateral cataract formation, type II diabetes mellitus, osteoporosis and atherosclerosis. The phenotype of Rothmund-Thomson syndrome patients also consists of some features associated with premature aging, as well as predispositon to certain cancers. Here, we discuss the molecular basis of these RecQ helicase-deficient disorders.

  6. Apert syndrome with glucose-6-phosphate dehydrogenase deficiency: a case report.

    PubMed

    Tosun, G; Sener, Y

    2006-05-01

    Apert syndrome is characterized by midface hypoplasia, syndactyly of the hands and feet, proptosis of eyes, steep and flat frontal bones, and premature union of cranial sutures. Maxillary hypoplasia, deep palatal vault, anterior open bite, crowding of the dental arch, severely delayed tooth eruption, and dental malocclusion are the main oral manifestations of this syndrome. In this report, a case of Apert syndrome with glucose-6-phosphate dehydrogenase (G(6)PD) deficiency is presented. The patient, a 4-year-old male and the fourth child of healthy parents, was admitted to our department because of delayed tooth eruption. He had all the cardinal symptoms of the Apert syndrome. Clinical examination revealed that primary centrals, canines and first molars erupted; however, primary second molars and laterals had not erupted. The patient had no dental caries. Preventive treatments were applied, and subsequently, the patient was taken to long-term follow up.

  7. 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.

  8. 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.

  9. 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.

  10. 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.

  11. Children with Down Syndrome Sharing Past Personal Event Narratives with Their Teacher Aides: A Pilot Study

    ERIC Educational Resources Information Center

    van Bysterveldt, Anne K.; Westerveld, Marleen F.

    2017-01-01

    Personal narrative ability is crucial for social-emotional well-being and classroom participation. This study investigated the ability of 10 school-age participants with Down syndrome to share past personal experiences with their teacher aides in their school environment. To participate, children were required to speak in short sentences and be…

  12. 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

  13. [Hearing rehabilitation in Treacher Collins Syndrome with bone anchored hearing aid].

    PubMed

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

    2015-12-01

    To describe a case of hearing rehabilitation with bone anchored hearing aid in a patient with Treacher Collins syndrome. 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). 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. Copyright © 2015 Sociedade de Pediatria de São Paulo. Publicado por Elsevier Editora Ltda. All rights reserved.

  14. 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)

  15. 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)

  16. 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)

  17. Prenatal Diagnosis of Antley-Bixler Syndrome and POR Deficiency.

    PubMed

    Oldani, Elena; Garel, Catherine; Bucourt, Martine; Carbillon, Lionel

    2015-12-16

    Prenatal diagnosis of severe bone diseases is challenging and requires complete and precise analysis of fetal anomalies to guide genetic investigation and parental counselling. We report a rare case of Antley-Bixler syndrome prenatally diagnosed at 26 weeks' gestation by ultrasound and computed tomography in a 28-year-old woman with a history of early termination of pregnancy for "malposition of the inferior limbs". The prenatal ultrasound scan showed severe femoral bowing and frontal bossing. Taking into account the high probability of a recurrent severe skeletal disorder, a computed tomography (CT) scan was proposed. CT findings revealed bilateral femora deformation, craniosynostosis, severe midface hypoplasia, and radiohumeral synostosis. These anomalies strongly suggested Antley-Bixler syndrome. Sequencing of the POR gene in the fetus and the parents revealed compound heterozygous mutations in exon 9 and intron 7, both inherited from each parent, and this finding allowed genetic counseling. The first step in the proper prenatal diagnosis of fetal bone disorders is the precise analysis of ultrasonographic images. However, when a severe fetal inherited disorder is strongly suspected in late mid-trimester, CT may be discussed and usefully contribute to diagnosis and prognosis assessment.

  18. [Estimation of plasma 25(OH)D vitamin deficiency in patients with metabolic syndrome].

    PubMed

    Godala, Małgorzata; Materek-Kuśmierkiewicz, Izabela; Moczulski, Dariusz; Szatko, Franciszek; Gaszyńska, Ewelina; Tokarski, Sławomir; Kowalski, Jan

    2016-05-01

    Cardiovascular diseases have been the main cause of mortality in Poland for many years, including premature death and the incidence is systematically growing. These diseases contribute to an increase in the number of disabled people and the cost of medical care. The problem of the so called metabolic syndrome (MS), which includes metabolic risks of atherosclerosis, has been known by doctors for a long time. Results of studies which have been conducted for some years confirm that vitamin D deficiency is a risk factor of MS disorders, including obesity, arterial hypertension, diabetes. The aim of the study was to assess plasma 25(OH)D vitamin deficiency in patients with MS. The study included 268 patients with MS, 136 men and 132 women, aged 30-65 years (mean 59,62±9,21 years). The study group was divided according to the age and season. The plasma level of 25(OH)D above 30 ng/ml was considered normal, between 21 ng/ml and 30 ng/ml - suboptimal (hypovitaminosis) and below 20 ng/ml - insufficient (deficiency). Plasma 25(OH)D vitamin deficiency was observed in 80,97% patients with MS, hipovitaminosis - in 17,16%. The recommended 25(OH)D concentration in the plasma was confirmed only in 1,87%. Plasma 25(OH)D vitamin deficiency was detected more often in men than women (93,38% vs. 68,18%, p<0,05);the lowest percentage of patients with 25(OH)D vitamin deficiency was observed during summer months (47,14%). Plasma 25(OH)D vitamin deficiency was very high in patients with metabolic syndrome, especially in men, people over 55 years and during winter months. © 2016 MEDPRESS.

  19. 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)

  20. 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…

  1. 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…

  2. 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…

  3. 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…

  4. 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…

  5. AIDS in the Workplace: A Literature Review. Position Paper.

    ERIC Educational Resources Information Center

    O'Riley, Kathleen Keri

    A literature review on the topic of Acquired Immune Deficiency Syndrome (AIDS) in the workplace is presented with these objectives: (1) to identify the myths and realities of the disease; (2) to identify AIDS-related issues in the workplace; and (3) to identify how employers and companies handle and respond to AIDS in the workplace. Terms related…

  6. 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…

  7. 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…

  8. 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…

  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. 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.

  11. Progression from Excessive to Deficient Syndromes in Chronic Hepatitis B: A Dynamical Network Analysis of miRNA Array Data

    PubMed Central

    Chen, Qi-Long; Lu, Yi-Yu; Zhang, Gui-Biao; Song, Ya-Nan; Zhou, Qian-Mei; Zhang, Hui; Zhang, Wei; Su, Shi-Bing

    2013-01-01

    Traditional Chinese medicine (TCM) treatment is regarded as a safe and effective method for chronic hepatitis B (CHB), which requires a traditional diagnosis method to distinguish the TCM syndrome. In this study, we study the differences and similarities among excessive, excessive-deficient, and deficient syndromes, by an integrative and comparative analysis of weighted miRNA expression or miRNA-target network in CHB patients. We first calculated the differential expressed miRNAs based on random module t-test and classified three CHB TCM syndromes using SVM method. Then, miRNA target genes were obtained by validated database and predicted programs subsequently, the weighted miRNA-target networks were constructed for different TCM syndromes. Furthermore, prioritize target genes of networks of CHB TCM syndromes progression analyzed using DAVID online analysis. The results have shown that the difference between TCM syndromes is distinctly based on hierarchical cluster and network structure. GO and pathway analysis implicated that three CHB syndromes more likely have different molecular mechanisms, while the excessive-deficient and deficient syndromes are more dangerous than excessive syndrome in the process of tumorigenesis. This study suggested that miRNAs are important mediators for TCM syndromes classification as well as CHB development progression and therefore could be potential diagnosis and therapeutic molecular markers. PMID:23690867

  12. 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,…

  13. 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,…

  14. AIDS Information Resources for People with Disabilities: A Handbook for Information Providers in Libraries, AIDS Organizations, and Disability Organizations.

    ERIC Educational Resources Information Center

    Klauber, Julie

    This handbook is designed to help information providers in the area of Acquired Immune Deficiency Syndrome (AIDS) to become aware of the information barriers which confront persons with disabilities, adapt conventional information resources about AIDS, and locate specialized AIDS information resources. Although the handbook is intended primarily…

  15. "Repellent and Shameful": The Portrayal of AIDS in "America Responds to AIDS" Broadcast Public Service Announcements, 1987-1992.

    ERIC Educational Resources Information Center

    Swanson, Douglas J.

    To address a need for increased discussion of the dangers of Acquired Immune Deficiency Syndrome (AIDS) and an increased educative effort to prevent people from acquiring HIV infection, a study investigated one element of an AIDS campaign of the past: the "America Responds to AIDS" television and radio public service announcements…

  16. [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.

  17. 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

  18. 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.

  19. 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

  20. 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.

  1. 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. © 2016 by the Association of Clinical Scientists, Inc.

  2. 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…

  3. 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…

  4. 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…

  5. 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…

  6. 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…

  7. 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…

  8. 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…

  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. 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…

  11. 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.…

  12. 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.

  13. [Leigh syndrome and leukodystrophy due to partial succinate dehydrogenase deficiency: regression with riboflavin].

    PubMed

    Pinard, J M; Marsac, C; Barkaoui, E; Desguerre, I; Birch-Machin, M; Reinert, P; Ponsot, G

    1999-04-01

    Succinate dehydrogenase (SDH) deficiency is rare. Clinical manifestations can appear in infancy with a marked impairment of psychomotor development with pyramidal signs and extrapyramidal rigidity. A 10-month-old boy developed severe neurological features, evoking a Leigh syndrome; magnetic resonance imaging showed features of leukodystrophy. A deficiency in the complex II respiratory chain (succinate dehydrogenase [SDH]) was shown. The course was remarkable by the regression of neurological impairment under treatment by riboflavin. The delay of psychomotor development, mainly involving language, was moderate at the age of 5 years. The relatively good prognosis of this patient, despite severe initial neurological impairment, may be due to the partial enzyme deficiency and/or riboflavin administration.

  14. [Effect of various ambient temperatures on activities of mitochondrial complex II in patients of deficiency-cold syndrome and deficiency-heat syndrome].

    PubMed

    Yan, Pan-pan; Yang, Li-ping; Huang, Rui; Hu, Yan-ping; Hou, Jun-lin; Li, Xin-min; Zhang, Xiang-hong

    2015-04-01

    To explore activity laws of mitochondrial complex II in patients of deficiency-cold syndrome (DCS) and deficiency-heat syndrome (DHS) under various ambient temperatures. Subjects were recruited by questionnaire and expert diagnosis from grade 1 - 3 undergraduates at Henan College of Traditional Chinese Medicine in November 2012, and assigned to a normal control group, the DCS group, and the DHS group, 20 in each group. Their venous blood samples were collected at two different temperature conditions. Activities of mitochondrial complex II were measured by spectrophotometry. (1) Comparison of mitochondrial complex It under various ambient temperatures: Compared with room temperature in the same group, activity values were all increased in the normal control group at cold temperature with significant difference (P <0.05), but there was no significant difference in the DCS group and the DHS group (P >0. 05). Compared with the normal control group, activity values of complex H were reduced in the DCS group at cold and room temperatures with significant difference (P <0.05). Compared with the DCS group, activity values of complex It were increased in the DHS group with significant difference (P <0. 05). (2) Changes of adjustment rates: Compared with room temperature, the adjustment rate all rose at cold temperature in the normal control group and the DHS group with significant difference (P <0.05), but with no significant difference found in the DCS group (P >0. 05). Compared with the normal control group at the same temperature, the adjustment rate in the DHS group and the DCS group was all reduced at cold and room temperatures with significant difference (P <0. 05). There were no significant difference in the adjustment rate between the DHS group and the DCS group (P > 0. 05). Environment temperature can affect the activity of mitochondrial complex II with different influence degrees on different syndrome types of people, but its change trend are basically identical.

  15. 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

  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. LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency.

    PubMed

    Debray, François-Guillaume; Morin, Charles; Janvier, Annie; Villeneuve, Josée; Maranda, Bruno; Laframboise, Rachel; Lacroix, Jacques; Decarie, Jean-Claude; Robitaille, Yves; Lambert, Marie; Robinson, Brian H; Mitchell, Grant A

    2011-03-01

    The natural history of all known patients with French-Canadian Leigh disease (Saguenay-Lac-St-Jean cytochrome c oxidase deficiency, MIM220111, SLSJ-COX), the largest known cohort of patients with a genetically homogeneous, nuclear encoded congenital lactic acidosis, was studied. 55 of 56 patients were homozygous for the A354V mutation in LRPPRC. One was a genetic compound (A354V/C1277Xdel8). Clinical features included developmental delay, failure to thrive, characteristic facial appearance and, in 90% of patients, acute crises that have not previously been detailed, either metabolic (fulminant lactic acidosis) and/or neurological (Leigh syndrome and/or stroke-like episodes). Survival ranged from 5 days to >30 years. 46/56 patients (82%) died, at a median age of 1.6 years. Of 73 crises, 38 (52%) were fatal. The immediate causes of death were multiple organ failure and/or Leigh disease. Major predictors of mortality during crises (p<0.005) were hyperglycaemia, hepatic cytolysis, and altered consciousness at admission. Compared to a group of SURF1-deficient Leigh syndrome patients assembled from the literature, SLSJ-COX is distinct by the occurrence of metabolic crises, leading to earlier and higher mortality (p=0.001). SLSJ-COX is clinically distinct, with acute fatal acidotic crises on a backdrop of chronic moderate developmental delay and hyperlactataemia. Leigh syndrome is common. Stroke-like episodes can occur. The Leigh syndrome of SLSJ-COX differs from that of SURF1-related COX deficiency. SLSJ-COX has a different spectrum of associated abnormalities, acidotic crises being particularly suggestive of LRPPRC related Leigh syndrome. Even among A354V homozygotes, pronounced differences in survival and severity occur, showing that other genetic and/or environmental factors can influence outcome.

  19. 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.

  20. Deficient Sleep in Mouse Models of Fragile X Syndrome

    PubMed Central

    Saré, R. Michelle; Harkless, Lee; Levine, Merlin; Torossian, Anita; Sheeler, Carrie A.; Smith, Carolyn B.

    2017-01-01

    In patients with fragile X syndrome (FXS), sleep problems are commonly observed but are not well characterized. In animal models of FXS (dfmr1 and Fmr1 knockout (KO)/Fxr2 heterozygote) circadian rhythmicity is affected, but sleep per se has not been examined. We used a home-cage monitoring system to assess total sleep time in both light and dark phases in Fmr1 KO mice at different developmental stages. Fmr1 KOs at P21 do not differ from controls, but genotype × phase interactions in both adult (P70 and P180) groups are statistically significant indicating that sleep in Fmr1 KOs is reduced selectively in the light phase compared to controls. Our results show the emergence of abnormal sleep in Fmr1 KOs during the later stages of brain maturation. Treatment of adult Fmr1 KO mice with a GABAB agonist, R-baclofen, did not restore sleep duration in the light phase. In adult (P70) Fmr1 KO/Fxr2 heterozygote animals, total sleep time was further reduced, once again in the light phase. Our data highlight the importance of the fragile X genes (Fmr1 and Fxr2) in sleep physiology and confirm the utility of these mouse models in enhancing our understanding of sleep disorders in FXS.

  1. 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.

  2. 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…

  3. 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…

  4. 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

  5. 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.

  6. Ferric carboxymaltose in patients with restless legs syndrome and nonanemic iron deficiency: A randomized trial.

    PubMed

    Trenkwalder, Claudia; Winkelmann, Juliane; Oertel, Wolfgang; Virgin, Garth; Roubert, Bernard; Mezzacasa, Anna

    2017-06-23

    Compromised iron status is important in restless legs syndrome pathophysiology. We compared the efficacy and tolerability of ferric carboxymaltose (single intravenous dose) versus placebo for restless legs syndrome treatment in iron-deficient nonanemic patients. Patients with moderate to severe restless legs syndrome and serum ferritin < 75 μg/L (or serum ferritin 75-300 μg/L and transferrin saturation < 20%) were randomized to ferric carboxymaltose (1000 mg iron) or placebo. Mean change difference between ferric carboxymaltose and placebo in International Restless Legs Syndrome Severity Scale score from baseline to week 4 was the primary end point; week 12 was a secondary end point. Ferric carboxymaltose treatment (n = 59) led to nonsignificant improvement over placebo (n = 51) in International Restless Legs Syndrome Severity Scale score at week 4 (difference [95% confidence interval], -2.5 [-5.93 to 1.02], P = 0.163), reaching significance by week 12 (-4.66 [-8.59 to -0.73], P = 0.021). In patients who responded to treatment, ferric carboxymaltose may require more time to stabilize restless legs syndrome than previously assumed. © 2017 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society. © 2017 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society.

  7. Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.

    PubMed

    Balasubramaniam, S; Riley, L G; Bratkovic, D; Ketteridge, D; Manton, N; Cowley, M J; Gayevskiy, V; Roscioli, T; Mohamed, M; Gardeitchik, T; Morava, E; Christodoulou, J

    2017-04-13

    Clinical finding of cutis laxa, characterized by wrinkled, redundant, sagging, nonelastic skin, is of growing significance due to its occurrence in several different inborn errors of metabolism (IEM). Metabolic cutis laxa results from Menkes syndrome, caused by a defect in the ATPase copper transporting alpha (ATP7A) gene; congenital disorders of glycosylation due to mutations in subunit 7 of the component of oligomeric Golgi (COG7)-congenital disorders of glycosylation (CDG) complex; combined disorder of N- and O-linked glycosylation, due to mutations in ATPase H+ transporting V0 subunit a2 (ATP6VOA2) gene; pyrroline-5-carboxylate reductase 1 deficiency; pyrroline-5-carboxylate synthase deficiency; macrocephaly, alopecia, cutis laxa, and scoliosis (MACS) syndrome, due to Ras and Rab interactor 2 (RIN2) mutations; transaldolase deficiency caused by mutations in the transaldolase 1 (TALDO1) gene; Gerodermia osteodysplastica due to mutations in the golgin, RAB6-interacting (GORAB or SCYL1BP1) gene; and mitogen-activated pathway (MAP) kinase defects, caused by mutations in several genes [protein tyrosine phosphatase, non-receptor-type 11 (PTPN11), RAF, NF, HRas proto-oncogene, GTPase (HRAS), B-Raf proto-oncogene, serine/threonine kinase (BRAF), MEK1/2, KRAS proto-oncogene, GTPase (KRAS), SOS Ras/Rho guanine nucleotide exchange factor 2 (SOS2), leucine rich repeat scaffold protein (SHOC2), NRAS proto-oncogene, GTPase (NRAS), and Raf-1 proto-oncogene, serine/threonine kinase (RAF1)], which regulate the Ras-MAPK cascade. Here, we further expand the list of inborn errors of metabolism associated with cutis laxa by describing the clinical presentation of a 17-month-old girl with Leigh-like syndrome due to enoyl coenzyme A hydratase, short chain, 1, mitochondria (ECHS1) deficiency, a mitochondrial matrix enzyme that catalyzes the second step of the beta-oxidation spiral of fatty acids and plays an important role in amino acid catabolism, particularly valine.

  8. 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…

  9. 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,…

  10. 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…

  11. 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…

  12. 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)

  13. [The Wolfram syndrome: diabetes mellitus, hypacusis, optic atrophy and short stature in STH deficiency].

    PubMed

    Hofmann, M; Boehmer, H; Zumbach, M; Borcea, V; Grauer, A; Kasperk, C; Heilmann, P; Ziegler, R; Wahl, P; Nawroth, P P

    1997-01-24

    A 43-year-old man was known for 3 years to have diabetes mellitus. For 2 months before admission he had symptoms of hyperglycaemia with polyuria, polydipsia, weight loss, as well as impairment of vision and declining fitness. In addition to bilateral deafness he was clearly of normally proportioned short stature (150 cm). The levels of blood sugar (221 mg/dl), HbA1c(10.2%), triglycerides (496 mg/dl) and cholesterol (323 mg/dl) were raised, while the concentration of somatotropic hormone was diminished, both before and after arginine administration. Fundoscopy revealed concentric diminution of the visual fields with left amblyopia. Visual evoked potentials and colour sense testing revealed bilateral optical atrophy, and the audiogram demonstrated deafness. These findings provided the diagnosis of Wolfram syndrome, namely insulin-dependent diabetes mellitus, deafness, optical atrophy and small stature with somatotropic hormone deficiency. On insulin treatment the metabolic state became normal (HbA1c 7.5%, normal lipid profile). It was decided that the deficiency in somatotropic hormone regulation did not require treatment. Cardinal symptoms of the autosomally recessive Wolfram syndrome are insulin-dependent diabetes and optic nerve atrophy. Several types of hormonal abnormalities are associated with it, including a deficiency in the somatotropic axis. To obtain early and adequate hormonal substitution requires extensive endocrinological diagnosis of a disease which frequently becomes manifest in childhood or adolescence.

  14. 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

  15. Functional deficiency of fibroblasts heterozygous for Bloom syndrome as specific manifestation of the primary defect.

    PubMed Central

    Bartram, C R; Rüdiger, H W; Schmidt-Preuss, U; Passarge, E

    1981-01-01

    The effect on the rate of sister chromatid exchanges (SCEs) in Bloom syndrome fibroblasts by cocultivation with Fanconi anemia and xeroderma pigmentosum fibroblasts and with Bloom syndrome heterozygotes was studied. Cells of Fanconi anemia and xeroderma origin reduced the rate of SCEs in Bloom cells by about 45%-50%, just as control cells do. In contrast, heterozygous Bloom cells reduced the rate of SCEs by only 16%-28%. In absolute figures, Fanconi cells reduced the mean rate of SCE in Bloom cells from 55.7 +/- 5.50- to 27.7 +/- 6.44, xeroderma cells to 30.5 +/- 5.73, and control cells to 28.3 +/- 5.35. Three different cell strains from Bloom syndrome heterozygotes reduced the rate to 40.1 +/- 8.81, 47.0 +/= 6.94, and 47.5 +/- 8.32. There was no effect on any of these cell strains by Bloom syndrome fibroblasts. We interpret the functional deficiency of heterozygous Bloom syndrome fibroblasts as a gene dosis effect. It probably represents a specific manifestation of the yet unknown primary defect, because it suggests the existence of a "corrective factor" that is inactive or absent in homozygous Bloom cells and reduced in heterozygotes. It may be identical with or closely related to the normal gene product at the Bloom locus. PMID:7325155

  16. 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…

  17. 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

  18. The use of computer-aided design/manufacturing (CAD/CAM) technology to aid in the reconstruction of congenitally deficient pediatric mandibles: A case series.

    PubMed

    Gougoutas, Alexander J; Bastidas, Nicholas; Bartlett, Scott P; Jackson, Oksana

    2015-12-01

    Microvascular reconstruction of the pediatric mandible, particularly when necessitated by severe, congenital hypoplasia, presents a formidable challenge. Complex cases, however, may be simplified by computer-aided design/computer-aided manufacturing (CAD/CAM) assisted surgical planning. This series represents the senior authors' preliminary experiences with CAD/CAM assisted, microvascular reconstruction of the pediatric mandible. Presented are two patients with hemifacial/bifacial microsomia, both with profound mandibular hypoplasia, who underwent CAD/CAM assisted reconstruction of their mandibles with vascularized fibula flaps. Surgical techniques, CAD/CAM routines employed, complications, and long-term outcomes are reported. Successful mandibular reconstructions were achieved in both patients with centralization of their native mandibles and augmentation of deficient mandibular subunits. No long-term complications were observed. CAD/CAM technology can be utilized in pediatric mandibular reconstruction, and is particularly beneficial in cases of profound, congenital hypoplasia requiring extensive, multi-planar, bony reconstructions. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  19. [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.

  20. 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…

  1. 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…

  2. 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…

  3. 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…

  4. 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…

  5. An evaluation of sleep quality and the prevalence of restless leg syndrome in vitamin D deficiency.

    PubMed

    Çakır, Tuncay; Doğan, Gülsüm; Subaşı, Volkan; Filiz, Meral Bilgilisoy; Ülker, Nur; Doğan, Şebnem Koldaş; Toraman, Naciye Füsun

    2015-12-01

    Vitamin D is known to increase levels of dopamine and its metabolites in the brain and also protects dopaminergic neurons against dopaminergic toxins. The aims of the study were to assess the frequency and symptom severity of restless leg syndrome (RLS) and sleep quality in vitamin D deficiency. A total of 102 patients were enrolled in this cross-sectional study, comprising 57 vitamin D deficient patients as Group 1 and 45 patients with normal levels of vitamin D as Group 2. RLS was diagnosed according to the International RLS Study Group (IRLSSG) diagnostic criteria. Symptom severity was assessed using the IRLSSG rating scale and sleep quality was measured with the Pittsburgh sleep quality index (PSQI). RLS incidence was higher in Group 1 (p = 0.034). The PSQI scores were higher in Group 1 and the difference between the groups was determined as statistically significant (p < 0.05). No statistically significant difference was determined in respect of the clinical evaluation and the IRLSSG Symptom Severity Scale between the patients in Group 1 diagnosed with RLS and the patients in Group 2 diagnosed with RLS (p > 0.05). The findings of this study support the hypothesis that RLS is more frequent and more severe in vitamin D deficiency and indicate a negative effect of vitamin deficiency on sleep parameters.

  6. 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.

  7. 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

  8. Salbutamol and ephedrine in the treatment of severe AChR deficiency syndromes

    PubMed Central

    Rodríguez Cruz, Pedro M.; Palace, Jacqueline; Ramjattan, Hayley; Jayawant, Sandeep; Robb, Stephanie A.

    2015-01-01

    Objective: To evaluate the response to salbutamol and ephedrine in the treatment of congenital myasthenic syndromes due to CHRNE mutations causing severe acetylcholine receptor (AChR) deficiency. Methods: A cohort study of 6 patients with severe AChR deficiency, symptomatic despite optimal therapy with anticholinesterase and 3,4-diaminopyridine, were analyzed for their response to the addition of salbutamol or ephedrine to their medication. Baseline quantitative myasthenia gravis (QMG) (severity) scores were worse than 15 of 39. Patients were assessed in clinic with QMG and mobility scores. Pretreatment and 6- to 8-month follow-up scores were evaluated. Results: All 6 patients tolerated treatment well and reported no side effects. There was a strong positive response to treatment over the 6- to 8-month assessment period with significant improvement in QMG (p = 0.027) and mobility scores. The analysis of subcomponents of the QMG score revealed marked improvement in upper (p = 0.028) and lower (p = 0.028) limb raise times. All patients reported enhanced activities of daily living at 6 to 8 months. Conclusions: Oral salbutamol and ephedrine appear to be effective treatments in severe cases of AChR deficiency on pyridostigmine. They are well tolerated and improvement in strength can be dramatic. Classification of evidence: This study provides Class IV evidence that salbutamol or ephedrine improves muscle strength in patients with congenital myasthenia from severe AChR deficiency. PMID:26296515

  9. 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

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

    PubMed

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

    2016-06-01

    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. 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. 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.

  11. 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.

  12. 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

  13. Importance of donor history of restless leg syndrome and pica to asses iron deficiency.

    PubMed

    Singh, Ashutosh; Chaudhary, Rajendra; Sonker, Atul; Pandey, Hem Chandra

    2016-04-01

    Iron deficiency is associated with neuropsychological changes such as restless leg syndrome (RLS), pica, hair loss, etc. Our objective was to assess usefulness of history of RLS and pica in relation with iron stores in blood donors. During medical examination, apart from routine questionnaires specific history of RLS and pica was elicited. Along with hemoglobin markers of iron deficiency such as s. iron, s. ferritin and mean corpuscular volume were analyzed. Out of 400 blood donors 41 had h/o pica/RLS/pagophagia. Positive and negative predictive value of above history is 73.17% and 80.5% respectively. We recommend the use of a screening question for pica and/or RLS in blood donor questionnaire. Copyright © 2015 Elsevier Ltd. All rights reserved.

  14. 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.

  15. 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

  16. 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.

  17. 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.

  18. 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.

  19. 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

  20. Modulation of Intracellular Restriction Factors Contributes to Methamphetamine-Mediated Enhancement of Acquired Immune Deficiency Syndrome Virus Infection of Macrophages

    PubMed Central

    Wang, Xu; Wang, Yizhong; Ye, Li; Li, Jieliang; Zhou, Yu; Sakarcan, Sinem; Ho, Wenzhe

    2014-01-01

    Epidemiological studies have demonstrated that the use of methamphetamine (METH), a sympathomimetic stimulant, is particularly common among patients infected with HIV. In vitro studies have determined that METH enhances HIV infection of CD4+ T cells, monocyte-derived dendritic cells, and macrophages. In addition, animal studies have also showed that METH treatment increases brain viral load of SIV-infected monkeys and promotes HIV replication and viremia in HIV/hu-CycT1 transgenic mice. However, the mechanisms (s) of METH actions on HIV remain to be determined. In this study, we investigated the impact of METH on intracellular restriction factors against HIV and SIV. We demonstrated that METH treatment of human blood mononuclear phagocytes significantly affected the expression of anti-HIV microRNAs and several key elements (RIG-I, IRF-3/5, SOCS-2, 3 and PIAS-1, 3, X, Y) in the type I IFN pathway. The suppression of these innate restriction factors was associated with a reduced production of type I IFNs and the enhancement of HIV or SIV infection of macrophages. These findings indicate that METH use impairs intracellular innate antiviral mechanism(s) in macrophages, contributing to cell susceptibility to the acquired immune deficiency syndrome (AIDS) virus infection. PMID:22591364

  1. Traditional Chinese medicine etiology and pathogenesis of acquired immune deficiency syndrome in simian immunodeficiency virus-infected Chinese rhesus macaques.

    PubMed

    Li, Maoqing; Fu, Linchun; Hu, Yinjie; Zhang, Miaomiao; He, Jinyang; Chen, Zhixi; Chen, Jinyan

    2012-12-01

    To investigate the traditional Chinese Medicine (TCM) etiology and pathogenesis of acquired immune deficiency syndrome (AIDS) by 18-month observation of Chinese rhesus macaques infected with simian immunodeficiency virus (SIV) mac239. Thirty-five healthy Chinese rhesus macaques were divided into a model group (n = 30) and a control group (n = 5). The model was established by inoculating monkeys intravenously with SIVmac239. Changes in TCM symptoms after SIV infection within 18 months were then observed and recorded. Routine blood tests, SIV viral load, T-lymphocyte subsets, plasma triiodothyronine (T3), tetraiodothyronine (T4), adrenocorticotropic hormone (ACTH) and cortisol (Cor) were tested periodically during the experiment. During the acute infection period of SIV, model monkeys temporarily showed clinical symptoms such as diarrhea, dysphoria and slight weight loss. Decrease percentages of CD4+ T-lymphocytes were observed but levels of T3, T4, Cor, and ACTH were relatively unchanged. Monkeys in the model group during the early and middle periods of infection showed no obvious symptoms, except few monkeys exhibited transient diarrhea and reduced food intake. All variables at this stage showed normal fluctuations. In the middle period model group monkeys showed chronic and persistent diarrhea, weight loss, reduced food intake and low levels of T3 and Cor. In the late period, symptoms including emaciation, weight loss, listlessness, crouching in corners and low levels of T3 appeared. The results suggest that the rhesus monkey SIV/SAIDS model can be applied to research on TCM etiology and pathogenesis of AIDS. According to this model, the etiology of disease is the SIV virus. The pathogenesis manifests as the invasion of SIV virus, incubation of the virus, balance between virus and healthy "Qi", damage to spleen and kidney as the disease progressed, exhaustion of vitality and finally the failure of five zang and six fu organs.

  2. 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

  3. Combination chemotherapy and alpha-interferon in the treatment of Kaposi's sarcoma associated with acquired immune deficiency syndrome.

    PubMed

    Shepherd, F A; Evans, W K; Garvey, B; Read, S E; Klein, M; Fanning, M M; Coates, R

    1988-10-01

    Thirteen men with a median age of 37 (range 28 to 46) years who had extensive Kaposi's sarcoma associated with acquired immune deficiency syndrome (AIDS) were treated with combination chemotherapy and alpha-interferon. Four patients had stage III disease and nine had stage IV disease (one with pulmonary and eight with gastrointestinal involvement). Treatment consisted of monthly courses of actinomycin D, 1 mg/m2, and vinblastine sulfate, 6 mg/m2, given intravenously on day 1, bleomycin, 10 mg/m2 given intravenously on days 1 and 8, and human lymphoblastoid (alpha-) interferon, 10 million U/m2 given subcutaneously three times a week for six doses starting on day 14. Forty-one treatment cycles (median 3, range 1 to 12) were administered. The median granulocyte and platelet counts on day 14 before the start of interferon therapy were 600 X 10(9)/L and 134 X 10(9)/L respectively; the counts did not fall further during interferon therapy. There was no difference in T-cell subsets, 2',5'-oligoadenylate synthetase level or results of blastogenesis studies after interferon therapy. Four patients required admission to hospital for neutropenia-associated fever. A complete response (of 24 weeks' duration) was seen in one patient and a partial response (of 14 to 44 weeks' duration) in four. One patient had a mixed response, with regression of skin involvement but progression of pulmonary disease. The median length of survival was 48 (range 4 to 143) weeks. Eleven patients died of progressive Kaposi's sarcoma, one of lymphoma and one of Pneumocystis carinii pneumonia. The results suggest that this form of therapy is not appropriate for patients with Kaposi's sarcoma associated with AIDS.

  4. The burden of proof and the origin of acquired immune deficiency syndrome.

    PubMed

    Martin, B

    2001-06-29

    There is a distinct difference in the way that different theories about the origin of acquired immune deficiency syndrome have been treated, with the widely supported cut-hunter theory given relatively little scrutiny, while the oral polio vaccine theory has been subject to intense criticism. This difference in treatment cannot be explained as application of the scientific method. A better explanation is that the burden of proof is put on all contenders to the cut-hunter theory, giving it an unfair advantage, especially given that this assignment of the burden of proof appears to reflect non-scientific factors.

  5. 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.

  6. 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.

  7. 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.

  8. 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).

  9. 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

  10. 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.

  11. 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)…

  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. 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…

  14. 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…

  15. Acquired immune deficiency syndrome in Thailand. A report of two cases.

    PubMed

    Limsuwan, A; Kanapa, S; Siristonapun, Y

    1986-03-01

    As a major tourist attraction for heterosexuals and homosexuals, Thailand stands to experience major increases in the rate of acquired immunodeficiency syndrome (AIDS). This article describes 2 AIDS cases in Thailand, including the 1st documented case. The 1st case involved a 28-year-old unmarried Thai male who travelled to the US in 1981 for postgraduate work and had contact with both female prostitutes and homosexual men. In 1982-83, the patient demonstrated fever, fatigue, meningitis, and finally Pneumocystis carinii. He was hospitalized in 1984 for fever, bilateral deafness, and diarrhea. Serologic analysis revealed antibodies to human T-cell lymphotropic virus type III (HTLV- III). Death occurred in January 1985. The 2nd patient was a 52-year- old single man who had moved from West Germany to Thailand 10 years previously to admission in 1985 for upper gastrointestinal bleeding. The patient, a homosexual, make frequent visits to Germany and was an alcoholic. The initial clinical diagnosis was ruptured esophageal varices with cirrhosis. The patient further had a history of herpes simplex genitalis. The subsequent course of the disease process included massive blood loss and interstitial pneumonitis. Serology revealed antibodies to HTLV-III. Death occurred in August 1985. Both of these patients belonged to groups at high risk of AIDS and had clinical, serologic, and immunologic indicators that enabled confirmation of the AIDS diagnosis.

  16. Copper and magnesium deficiencies in patients with short bowel syndrome receiving parenteral nutrition or oral feeding.

    PubMed

    Braga, Camila Bitu Moreno; Ferreira, Iahel Manon de Lima; Marchini, Júlio Sérgio; Cunha, Selma Freire de Carvalho da

    2015-01-01

    Patients with short bowel syndrome have significant fluid and electrolytes loss. Evaluate the mineral and electrolyte status in short bowel syndrome patients receiving intermittent parenteral nutrition or oral feeding. Twenty two adults with short bowel syndrome, of whom 11 were parenteral nutrition dependent (PN group), and the 11 remaining had been weaned off parenteral nutrition for at least 1 year and received all nutrients by oral feeding (OF group). The study also included 14 healthy volunteers paired by age and gender (control group). Food ingestion, anthropometry, serum or plasma levels of sodium, potassium, phosphorus, magnesium, calcium, zinc, iron and copper were evaluated. PN group subjects were evaluated before starting a new parenteral nutrition cycle. The levels of sodium, potassium, phosphorus, calcium and zinc were similar between the groups. The magnesium value was lower in the PN group (1.0 ± 0.4 mEq /L) than other groups. Furthermore, this electrolyte was lower in the OF group (1.4 ± 0.3 mEq /L) when compared to the Control group (1.8 ± 0.1 mEq/L). Lower values of copper (69±24 vs 73±26 vs 109±16 µg/dL) were documented, respectively, for the PN and OF groups when compared to the control group. Hypomagnesemia and hypocupremia are electrolyte disturbances commonly observed in short bowel syndrome. Patients with massive intestinal resection require monitoring and supplementation in order to prevent magnesium and copper deficiencies.

  17. Serum antibody-negative Goodpasture syndrome with delta granule pool storage deficiency and eosinophilia.

    PubMed

    Kussman, Ashleigh; Gohara, Amira

    2012-12-01

    Goodpasture syndrome is a rare, life-threatening autoimmune disease characterized by a triad of rapidly progressive glomerulonephritis, a hemorrhagic pulmonary condition and the presence of anti-glomerular basement membrane (anti-GBM) antibodies. The antibodies initiate destruction of the kidney glomeruli, resulting in a focal necrotizing glomerulitis, which may progress rapidly to renal failure. Autoantibody-mediated damage of alveolar basement membranes leads to diffuse pulmonary hemorrhage, which in some cases may be severe enough to cause respiratory failure. Many clinicians use a variety of assays to detect serum anti-GBM antibodies; however, these tests may be falsely negative in up to 15% of patients with Goodpasture syndrome. Here, we report an unusual case of a 40-year-old man with clinical evidence of Goodpasture syndrome, a negative anti-GBM antibody serum result, eosinophilia and delta granule pool storage deficiency. After a 14-day hospital stay and extensive workup, as well as treatment with antibiotics, steroids and ventilator support for respiratory failure, the patient continued to deteriorate and entered multisystem organ failure. The family decided to withdraw ventilator support, and the patient expired. Immunofluorescence testing for anti-GBM autoantibodies on lung and kidney tissues during an autopsy confirmed the diagnosis of Goodpasture syndrome.

  18. Serum antibody-negative Goodpasture syndrome with delta granule pool storage deficiency and eosinophilia

    PubMed Central

    Kussman, Ashleigh; Gohara, Amira

    2012-01-01

    Goodpasture syndrome is a rare, life-threatening autoimmune disease characterized by a triad of rapidly progressive glomerulonephritis, a hemorrhagic pulmonary condition and the presence of anti-glomerular basement membrane (anti-GBM) antibodies. The antibodies initiate destruction of the kidney glomeruli, resulting in a focal necrotizing glomerulitis, which may progress rapidly to renal failure. Autoantibody-mediated damage of alveolar basement membranes leads to diffuse pulmonary hemorrhage, which in some cases may be severe enough to cause respiratory failure. Many clinicians use a variety of assays to detect serum anti-GBM antibodies; however, these tests may be falsely negative in up to 15% of patients with Goodpasture syndrome. Here, we report an unusual case of a 40-year-old man with clinical evidence of Goodpasture syndrome, a negative anti-GBM antibody serum result, eosinophilia and delta granule pool storage deficiency. After a 14-day hospital stay and extensive workup, as well as treatment with antibiotics, steroids and ventilator support for respiratory failure, the patient continued to deteriorate and entered multisystem organ failure. The family decided to withdraw ventilator support, and the patient expired. Immunofluorescence testing for anti-GBM autoantibodies on lung and kidney tissues during an autopsy confirmed the diagnosis of Goodpasture syndrome. PMID:26069804

  19. 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.

  20. 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.

  1. The Immune Pathogenesis of Immune Reconstitution Inflammatory Syndrome Associated with Highly Active Antiretroviral Therapy in AIDS

    PubMed Central

    Zhou, Huaying; He, Yan; Chen, Zi; He, Bo; He, Mei

    2014-01-01

    Abstract The present study investigated the immunological pathogenesis of immune reconstitution inflammatory syndrome (IRIS) in acquired immunodeficiency syndrome (AIDS) patients undergoing highly active antiretroviral therapy (HAART). A total of 238 patients with AIDS who received initial HAART were included in this prospective cohort study. Blood samples were collected immediately, at baseline, at week 12, and at week 24 after initial HAART and at the onset of IRIS. Lymphocyte subsets, Th1 and Th2 cytokines, and interleukin (IL)-7 levels were measured by flow cytometry or ELISA. Among the 238 patients with AIDS who received HAART, 47 patients developed IRIS. The percentages of CD4+ and CD8+ naive, memory, and activated cells exhibited no significant differences between AIDS patients with and without IRIS 24 weeks after initial HAART. The percentage of CD4+CD25+Foxp3+ regulatory T cells was lower in IRIS patients than in non-IRIS patients before HAART, 12 weeks after HAART, 24 weeks after HAART, and at the onset of IRIS. IL-2 and interferon (IFN)-γ levels were significantly higher at week 4 and at the onset of IRIS in IRIS patients than in non-IRIS patients. In contrast, IL-4 and IL-10 levels were significantly lower at week 4 and at the onset of IRIS in IRIS patients than in non-IRIS patients. Plasma IL-7 decreased gradually with the progression of HAART. The level of IL-7 was higher in IRIS patients than in non-IRIS patients at all follow-up time points. An imbalance of Th1/Th2 cytokines, a consistently low CD+CD25+Fox3+ percentage, and a high IL-7 level may be crucial in the pathogenesis of IRIS in AIDS patients who had received HAART. PMID:25131160

  2. Zinc protoporphyrin and percentage of hypochromic erythrocytes as markers of functional iron deficiency during therapy with erythropoietin in patients with advanced acquired immunodeficiency syndrome.

    PubMed

    Matzkies, F K; Cullen, P; Schaefer, L; Hartmann, M; Hohage, H; Schaefer, R M

    1999-12-01

    We assessed zinc protoporphyrin (ZPP) and the percentage of hypochromic erythrocytes in patients with advanced acquired immunodeficiency syndrome (AIDS) treated with recombinant erythropoietin (rhEPO). Patients received 150 IU rhEPO subcutaneously every second day for 10 days, and 150 IU rhEPO plus 62.5 mg of intravenous iron every second day for an additional 10 days. Before rhEPO therapy, ZPP was at 64.3 +/- 27.3 micromol/mol heme and the percentage of hypochromic erythrocytes was elevated at 9.7%, indicating mild functional iron deficiency. Ferritin was 1,002 +/- 956 microg/L, with transferrin saturation of 19.1 +/- 9.7%. Under rhEPO alone, ZPP rose to 80.1 +/- 21.6 micromol/mol heme and the percentage of hypochromic red cells rose to 22.9 +/- 4.7%; ferritin fell to 705 +/- 601 microg/L and transferrin saturation fell to 12 +/- 6.3%. When rhEPO was supplemented with iron, ZPP fell to 70.4 +/- 20.5 micromol/mol heme, the percentage of hypochromic red cells fell to 14.7 +/- 3.4%; ferritin was unchanged at 771 +/- 62 microg/L and transferrin saturation rose to 20.5 +/- 5.5%. In contrast to ferritin and transferrin saturation, ZPP and the percentage of hypochromic erythrocytes effectively detect the functional iron deficiency under rhEPO therapy in advanced AIDS.

  3. 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.

  4. 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

  5. Scientists Pursue Elusive Drug to Combat AIDS; Critics Charge Research Effort is Lagging.

    ERIC Educational Resources Information Center

    Wheeler, David L.

    1987-01-01

    Observers say the research effort to develop drugs to combat acquired immune deficiency syndrome (AIDS) is increasingly well-funded but badly coordinated, with many universities not willing or not able to pull their weight. (MSE)

  6. 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)

  7. Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study.

    PubMed

    Kurian, Manju A; Li, Yan; Zhen, Juan; Meyer, Esther; Hai, Nebula; Christen, Hans-Jürgen; Hoffmann, Georg F; Jardine, Philip; von Moers, Arpad; Mordekar, Santosh R; O'Callaghan, Finbar; Wassmer, Evangeline; Wraige, Elizabeth; Dietrich, Christa; Lewis, Timothy; Hyland, Keith; Heales, Simon; Sanger, Terence; Gissen, Paul; Assmann, Birgit E; Reith, Maarten E A; Maher, Eamonn R

    2011-01-01

    dopamine transporter deficiency syndrome is the first identified parkinsonian disorder caused by genetic alterations of the dopamine transporter. We describe a cohort of children with mutations in the gene encoding the dopamine transporter (SLC6A3) with the aim to improve clinical and molecular characterisation, reduce diagnostic delay and misdiagnosis, and provide insights into the pathophysiological mechanisms. 11 children with a biochemical profile suggestive of dopamine transporter deficiency syndrome were enrolled from seven paediatric neurology centres in the UK, Germany, and the USA from February, 2009, and studied until June, 2010. The syndrome was characterised by detailed clinical phenotyping, biochemical and neuroradiological studies, and SLC6A3 mutation analysis. Mutant constructs of human dopamine transporter were used for in-vitro functional analysis of dopamine uptake and cocaine-analogue binding. children presented in infancy (median age 2·5 months, range 0·5-7) with either hyperkinesia (n=5), parkinsonism (n=4), or a mixed hyperkinetic and hypokinetic movement disorder (n=2). Seven children had been initially misdiagnosed with cerebral palsy. During childhood, patients developed severe parkinsonism-dystonia associated with an eye movement disorder and pyramidal tract features. All children had raised ratios of homovanillic acid to 5-hydroxyindoleacetic acid in cerebrospinal fluid, of range 5·0-13·2 (normal range 1·3-4·0). Homozygous or compound heterozygous SLC6A3 mutations were detected in all cases. Loss of function in all missense variants was recorded from in-vitro functional studies, and was supported by the findings of single photon emission CT DaTSCAN imaging in one patient, which showed complete loss of dopamine transporter activity in the basal nuclei. dopamine transporter deficiency syndrome is a newly recognised, autosomal recessive disorder related to impaired dopamine transporter function. Careful characterisation of patients

  8. Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study

    PubMed Central

    Kurian, Manju A; Li, Yan; Zhen, Juan; Meyer, Esther; Hai, Nebula; Christen, Hans-Jürgen; Hoffmann, Georg F; Jardine, Philip; von Moers, Arpad; Mordekar, Santosh R; O'Callaghan, Finbar; Wassmer, Evangeline; Wraige, Elizabeth; Dietrich, Christa; Lewis, Timothy; Hyland, Keith; Heales, Simon JR; Sanger, Terence; Gissen, Paul; Assmann, Birgit E; Reith, Maarten EA; Maher, Eamonn R

    2010-01-01

    Summary Background Dopamine transporter deficiency syndrome is the first identified parkinsonian disorder caused by genetic alterations of the dopamine transporter. We describe a cohort of children with mutations in the gene encoding the dopamine transporter (SLC6A3) with the aim to improve clinical and molecular characterisation, reduce diagnostic delay and misdiagnosis, and provide insights into the pathophysiological mechanisms. Methods 11 children with a biochemical profile suggestive of dopamine transporter deficiency syndrome were enrolled from seven paediatric neurology centres in the UK, Germany, and the USA from February, 2009, and studied until June, 2010. The syndrome was characterised by detailed clinical phenotyping, biochemical and neuroradiological studies, and SLC6A3 mutation analysis. Mutant constructs of human dopamine transporter were used for in-vitro functional analysis of dopamine uptake and cocaine-analogue binding. Findings Children presented in infancy (median age 2·5 months, range 0·5–7) with either hyperkinesia (n=5), parkinsonism (n=4), or a mixed hyperkinetic and hypokinetic movement disorder (n=2). Seven children had been initially misdiagnosed with cerebral palsy. During childhood, patients developed severe parkinsonism-dystonia associated with an eye movement disorder and pyramidal tract features. All children had raised ratios of homovanillic acid to 5-hydroxyindoleacetic acid in cerebrospinal fluid, of range 5·0–13·2 (normal range 1·3–4·0). Homozygous or compound heterozygous SLC6A3 mutations were detected in all cases. Loss of function in all missense variants was recorded from in-vitro functional studies, and was supported by the findings of single photon emission CT DaTSCAN imaging in one patient, which showed complete loss of dopamine transporter activity in the basal nuclei. Interpretation Dopamine transporter deficiency syndrome is a newly recognised, autosomal recessive disorder related to impaired dopamine

  9. 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.

  10. 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.

  11. Biotin deficiency in a patient with short bowel syndrome during home parenteral nutrition.

    PubMed

    Khalidi, N; Wesley, J R; Thoene, J G; Whitehouse, W M; Baker, W L

    1984-01-01

    A 54-year-old woman with short bowel syndrome was supported with home parenteral nutrition. Six months after receiving 2200 kcal/day of balanced home parenteral nutrition without biotin, she developed biotin deficiency with complete hair loss, eczematous dermatitis, waxy pallor, lethargy, and hypersthesias . Blood and urine samples were collected prior to treatment. Serum zinc was 64 micrograms/dl (nl 50-150 micrograms/dl), and the triene/tetraene ratio was 0.068 (nl 0.4), thereby ruling out zinc and essential fatty acid deficiencies. Serum biotin was 332 pg/ml (nl 520 +/- 220 pg/ml), and urine biotin was 5.22 ng/mg of creatinine (nl 4.3-95 with a mean of 30.2 ng/mg creatinine). The same parenteral nutrition regimen was contained and oral biotin was administered (10 mg/day). After 3 wk, serum and urine biotin levels were 650 pg/ml and 35.6 ng/mg creatinine, respectively. New hair growth was evident and all of her other symptoms resolved. Intravenous biotin was then provided (5 mg/day) for a month after which serum and urine biotin levels were 1316 pg/ml and 178 ng/mg creatine, respectively. The patient has been subsequently maintained on an intravenous multivitamin product containing 60 micrograms biotin per daily dose and remains free of signs and symptoms of biotin deficiency.

  12. Exacerbated experimental arthritis in Wiskott-Aldrich syndrome protein deficiency: modulatory role of regulatory B cells.

    PubMed

    Bouma, Gerben; Carter, Natalie A; Recher, Mike; Malinova, Dessislava; Adriani, Marsilio; Notarangelo, Luigi D; Burns, Siobhan O; Mauri, Claudia; Thrasher, Adrian J

    2014-09-01

    Patients deficient in the cytoskeletal regulator Wiskott-Aldrich syndrome protein (WASp) are predisposed to varied autoimmunity, suggesting it has an important controlling role in participating cells. IL-10-producing regulatory B (Breg) cells are emerging as important mediators of immunosuppressive activity. In experimental, antigen-induced arthritis WASp-deficient (WASp knockout [WAS KO]) mice developed exacerbated disease associated with decreased Breg cells and regulatory T (Treg) cells, but increased Th17 cells in knee-draining LNs. Arthritic WAS KO mice showed increased serum levels of B-cell-activating factor, while their B cells were unresponsive in terms of B-cell-activating factor induced survival and IL-10 production. Adoptive transfer of WT Breg cells ameliorated arthritis in WAS KO recipients and restored a normal balance of Treg and Th17 cells. Mice with B-cell-restricted WASp deficiency, however, did not develop exacerbated arthritis, despite exhibiting reduced Breg- and Treg-cell numbers during active disease, and Th17 cells were not increased over equivalent WT levels. These findings support a contributory role for defective Breg cells in the development of WAS-related autoimmunity, but demonstrate that functional competence in other regulatory populations can be compensatory. A properly regulated cytoskeleton is therefore important for normal Breg-cell activity and complementation of defects in this lineage is likely to have important therapeutic benefits. © 2014 The Authors. European Journal of Immunology published by WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

  13. 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

  14. 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…

  15. 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…

  16. Perceptions of Vulnerability: Impact on AIDS-Preventive Behavior among College Adolescents.

    ERIC Educational Resources Information Center

    Mickler, Susan E.

    Although college students are generally knowledgeable about Acquired Immune Deficiency Syndrome (AIDS) and how it is transmitted, many heterosexual college students fail to engage in AIDS-preventive behavior. This study examined heterosexual college students' perceptions of their own and other peoples' vulnerability to AIDS and explored the…

  17. 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…

  18. 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…

  19. 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)

  20. College Students and AIDS Awareness: The Effects of Condom Perception and Self-Efficacy

    ERIC Educational Resources Information Center

    Brown, Ulysses J. III; Jara, Ursula; Braxton, Erika

    2005-01-01

    This paper examined the attitudes and perceptions of urban college students regarding Acquired Immune Deficiency Syndrome (AIDS) awareness and prevention. AIDS has devastated the lives of citizens in the United States. The Centers for Disease Control and Prevention indicate that the AIDS incidence rate for young Americans between the ages of 13 to…

  1. 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…

  2. AIDS and the Education of Our Children: A Guide for Parents and Teachers.

    ERIC Educational Resources Information Center

    Department of Education, Washington, DC.

    Guidelines for parents, teachers, and other adults to use in the education of children about acquired immune deficiency syndrome (AIDS) are presented in this document. The first part of the document presents a review of the known facts concerning the history and spread of AIDS. Specific topics discussed include AIDS symptoms, lack of a cure or…

  3. 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…

  4. 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.

  5. Dietary inorganic nitrate reverses features of metabolic syndrome in endothelial nitric oxide synthase-deficient mice.

    PubMed

    Carlström, Mattias; Larsen, Filip J; Nyström, Thomas; Hezel, Michael; Borniquel, Sara; Weitzberg, Eddie; Lundberg, Jon O

    2010-10-12

    The metabolic syndrome is a clustering of risk factors of metabolic origin that increase the risk for cardiovascular disease and type 2 diabetes. A proposed central event in metabolic syndrome is a decrease in the amount of bioavailable nitric oxide (NO) from endothelial NO synthase (eNOS). Recently, an alternative pathway for NO formation in mammals was described where inorganic nitrate, a supposedly inert NO oxidation product and unwanted dietary constituent, is serially reduced to nitrite and then NO and other bioactive nitrogen oxides. Here we show that several features of metabolic syndrome that develop in eNOS-deficient mice can be reversed by dietary supplementation with sodium nitrate, in amounts similar to those derived from eNOS under normal conditions. In humans, this dose corresponds to a rich intake of vegetables, the dominant dietary nitrate source. Nitrate administration increased tissue and plasma levels of bioactive nitrogen oxides. Moreover, chronic nitrate treatment reduced visceral fat accumulation and circulating levels of triglycerides and reversed the prediabetic phenotype in these animals. In rats, chronic nitrate treatment reduced blood pressure and this effect was also present during NOS inhibition. Our results show that dietary nitrate fuels a nitrate-nitrite-NO pathway that can partly compensate for disturbances in endogenous NO generation from eNOS. These findings may have implications for novel nutrition-based preventive and therapeutic strategies against cardiovascular disease and type 2 diabetes.

  6. Dietary inorganic nitrate reverses features of metabolic syndrome in endothelial nitric oxide synthase-deficient mice

    PubMed Central

    Carlström, Mattias; Larsen, Filip J.; Nyström, Thomas; Hezel, Michael; Borniquel, Sara; Weitzberg, Eddie; Lundberg, Jon O.

    2010-01-01

    The metabolic syndrome is a clustering of risk factors of metabolic origin that increase the risk for cardiovascular disease and type 2 diabetes. A proposed central event in metabolic syndrome is a decrease in the amount of bioavailable nitric oxide (NO) from endothelial NO synthase (eNOS). Recently, an alternative pathway for NO formation in mammals was described where inorganic nitrate, a supposedly inert NO oxidation product and unwanted dietary constituent, is serially reduced to nitrite and then NO and other bioactive nitrogen oxides. Here we show that several features of metabolic syndrome that develop in eNOS-deficient mice can be reversed by dietary supplementation with sodium nitrate, in amounts similar to those derived from eNOS under normal conditions. In humans, this dose corresponds to a rich intake of vegetables, the dominant dietary nitrate source. Nitrate administration increased tissue and plasma levels of bioactive nitrogen oxides. Moreover, chronic nitrate treatment reduced visceral fat accumulation and circulating levels of triglycerides and reversed the prediabetic phenotype in these animals. In rats, chronic nitrate treatment reduced blood pressure and this effect was also present during NOS inhibition. Our results show that dietary nitrate fuels a nitrate–nitrite–NO pathway that can partly compensate for disturbances in endogenous NO generation from eNOS. These findings may have implications for novel nutrition-based preventive and therapeutic strategies against cardiovascular disease and type 2 diabetes. PMID:20876122

  7. 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

  8. Sugar chains of serum transferrin from patients with carbohydrate deficient glycoprotein syndrome. Evidence of asparagine-N-linked oligosaccharide transfer deficiency.

    PubMed

    Yamashita, K; Ideo, H; Ohkura, T; Fukushima, K; Yuasa, I; Ohno, K; Takeshita, K

    1993-03-15

    The structure of over 93% of the sugar chains of serum transferrin purified from three patients with carbohydrate-deficient glycoprotein (CDG) syndrome was Neu5Ac alpha 2-->6Gal beta 1-->4GlcNAc beta 1-->2Man alpha 1-->6 (Neu5Ac alpha 2-->6Gal beta 1-->4GlcNAc beta 1-->2Man alpha 1-->3)Man beta 1-->4GlcNac beta 1-->4GlcNAc, similar to that in a healthy control. On chromatofocusing, CDG syndrome transferrin was separated into three major isoforms, S4, S2, and S0, containing 4, 2, and 0 sialic acids/molecule at pH 5.12 (5.16), 5.42, and 5.80, respectively. On 7.5% SDS-polyacrylamide gel electrophoresis, the molecular masses of transferrin isoforms S4, S2, and S0 were 80, 77, and 74 kDa, respectively. Transferrin isoforms S4 and S2 were linked to 2 and 1 mol of sialylated biantennary sugar chain/transferrin molecule, on the other hand, isoform S0 was not linked to any asparagine-N-linked oligosaccharide. Accordingly, CDG syndrome can be concluded to be an asparagine-N-linked oligosaccharide transfer deficiency, although the primary deficient enzyme has not yet been determined.

  9. Use of an electronic cognitive aid by a person with Korsakoff syndrome.

    PubMed

    de Joode, E A; van Boxtel, M P J; Hartjes, P; Verhey, F R J; van Heugten, C M

    2013-11-01

    The purpose of the current study was to evaluate the feasibility and the effectiveness of the use of a customized personal digital assistant (PDA) to support cognitive functioning in a person with Korsakoff syndrome. The PDA was compared with no external support and the use of a memory watch in a single case experimental design. Three main personal goal tasks were defined: "arrive at appointments on time", "execute a long-term task successfully", and "remember to ask for medication". No significant differences were found between the use of the memory watch and the use of the customized PDA. PDA use was perceived as feasible and effective and was considered as a more comprehensive aid than the memory watch. This study shows that a person with Korsakoff syndrome is able to use and benefit from a customized PDA. Replication of these findings in a larger effectiveness study is necessary.

  10. 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

  11. 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.

  12. Refractory and/or Relapsing Cryptococcosis Associated with Acquired Immune Deficiency Syndrome: Clinical Features, Genotype, and Virulence Factors of Cryptococcus spp. Isolates.

    PubMed

    Nascimento, Erika; Vitali, Lucia H; Tonani, Ludmilla; Kress, Marcia R Von Zeska; Takayanagui, Osvaldo M; Martinez, Roberto

    2016-05-04

    Refractory and relapsing crytocococcosis in acquired immune deficiency syndrome (AIDS) patients have a poor prognosis. The risk factors for this complicated infection course were evaluated by comparing refractory and/or relapsing cryptococcosis in human immunodeficiency virus-coinfected patients (cohort 1) with another group of AIDS patients who adequately responded to antifungals (cohort 2). Except for one isolate of Cryptococcus gattii from a cohort 2 case, all other isolates were identified as Cryptococcus neoformans var. grubii, sex type α, genotype VNI, including Cryptococcus reisolated from the relapse or in the refractory state. No differences were observed with respect to Cryptococcus capsule size and in the melanin and phospholipase production. The cohort 1 patients presented higher prevalence of cryptococcemia, cerebral dissemination, chronic liver disease, and leucopenia, and have increased death rate. Apparently, the refractory and/or relapsing cryptococcosis in the AIDS patients were more related to the host and the extent of the infection than to the fungal characteristics. © The American Society of Tropical Medicine and Hygiene.

  13. 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

  14. 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…

  15. 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…

  16. The African American Family and AIDS: Counseling Issues and Strategies.

    ERIC Educational Resources Information Center

    Rowe, Patrick; Beamish, Patricia M.

    This document discusses the application of a systems approach for family counseling for African American families with a family member infected with Acquired Immune Deficiency Syndrome (AIDS). It begins by citing statistics that illustrate that there exists a disproportionate representation of cases of AIDS among African Americans. A discussion on…

  17. 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)

  18. 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…

  19. 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…

  20. 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…

  1. 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…

  2. Psychological Consequences of AIDS-Related Bereavement among Gay Men.

    ERIC Educational Resources Information Center

    Martin, John L.

    1988-01-01

    Interviewed 745 homosexual men to examine relation between Acquired Immune Deficiency Syndrome (AIDS)-related bereavement and psychological distress. Loss of lover or close friend to AIDS was reported by 27 percent of sample. Found direct relation between number of bereavements and symptoms of traumatic stress response, demoralization, sleep…

  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. Adolescent Coping Behavior When Confronted with a Friend with AIDS.

    ERIC Educational Resources Information Center

    Brown, Larry K.; And Others

    1992-01-01

    Examined coping of adolescents (n=871) presented with hypothetical situation of friend with Acquired Immune Deficiency Syndrome (AIDS) and compared subjects with sample (n=472) responding to hypothetical situation of suicidal peer. Found more distress in girls for AIDS problem, more distress in boys for suicide problem. Adolescents were more…

  6. 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)…

  7. 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…

  8. 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…

  9. 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)

  10. Adolescents, AIDS and HIV: A Community-Wide Responsibility.

    ERIC Educational Resources Information Center

    Center for Population Options, Washington, DC.

    This report explores policy initiatives, priorities, and plans of action recommended to policymakers with respect to a commitment to education for youth on prevention of Human Immunodeficiency Virus (HIV) infection and Acquired Immune Deficiency Syndrome (AIDS). Young people with AIDS/HIV infection, can be offered compassion, hope, and support.…

  11. 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…

  12. 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)

  13. 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…

  14. 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)…

  15. 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…

  16. 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…

  17. 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…

  18. 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…

  19. 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…

  20. 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)

  1. 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.…

  2. 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…

  3. 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…

  4. 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…

  5. 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…

  6. 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)

  7. Multilevel drivers of human immunodeficiency virus/acquired immune deficiency syndrome among Black Philadelphians: exploration using community ethnography and geographic information systems.

    PubMed

    Brawner, Bridgette M; Reason, Janaiya L; Goodman, Bridget A; Schensul, Jean J; Guthrie, Barbara

    2015-01-01

    Unequal human immunodeficiency virus (HIV)/acquired immune deficiency syndrome (AIDS) distribution is influenced by certain social and structural contexts that facilitate HIV transmission and concentrate HIV in disease epicenters. Thus, one of the first steps in designing effective community-level HIV/AIDS initiatives is to disentangle the influence of individual, social, and structural factors on HIV risk. Combining ethnographic methodology with geographic information systems mapping can allow for a complex exploration of multilevel factors within communities that facilitate HIV transmission in highly affected areas. We present the formative comparative community-based case study findings of an investigation of individual-, social-, and structural-level factors that contribute to the HIV/AIDS epidemic among Black Philadelphians. Communities were defined using census tracts. The methodology included ethnographic and geographic information systems mapping, observation, informal conversations with residents and business owners, and secondary analyses of census tract-level data in four Philadelphia neighborhoods. Factors such as overcrowding, disadvantage, permeability in community boundaries, and availability and accessibility of health-related resources varied significantly. Furthermore, HIV/AIDS trended with social and structural inequities above and beyond the community's racial composition. This study was a first step to disentangle relationships between community-level factors and potential risk for HIV in an HIV epicenter. The findings also highlight stark sociodemographic differences within and across racial groups and further substantiate the need for comprehensive, community-level HIV prevention interventions. These findings from targeted U.S. urban communities have potential applicability for examining the distribution of HIV/AIDS in broader national and international geosocial contexts.

  8. 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

  9. 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

  10. 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…

  11. 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.

  12. 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

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

    USDA-ARS?s Scientific Manuscript database

    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 ...

  14. Comparison of clinical and electrodiagnostic features in B12 deficiency neurological syndromes with and without antiparietal cell antibodies.

    PubMed

    Misra, U K; Kalita, J

    2007-02-01

    This study was undertaken to compare the clinical and electrodiagnostic (Edx) features in autoimmune and nutritional vitamin B12 deficiency neurological syndromes. Consecutive patients with vitamin B12 deficiency neurological syndromes were evaluated and blood counts, red blood cell indices, serum chemistry, thyroid function, HIV serology, antiparietal cell antibody (APCA), serum B12, bone marrow and spinal MRI assessed. EDx studies included nerve conduction, tibial somatosensory (SEP) and motor evoked potential (MEP) to the tibialis anterior, and visual evoked potential (VEP). The results were compared between APCA positive and negative groups. 57 patients aged 17-80 years (mean 45.3) were studied; 48 were vegetarians. The presenting clinical syndromes were myeloneuropathy in 25, myelopathy in 14, myeloneuroencephalopathy in 13, myeloencephalopathy in four and behavioural abnormality only in one patient. Spinal MRI in 47 patients revealed posterior spinal cord hyperintensity in 21 and cord atrophy in six. Nerve conduction was abnormal in 15%, MEP in 56.6%, SEP in 87.3% and VEP in 63.6% of patients. At 3 months, 31 patients had complete, 11 partial and three poor recovery. APCA was positive in 49% of patients. There was no difference in clinical, MRI or Edx findings or outcome between the APCA positive and negative groups. APCA was positive in 49% of patients with B12 deficiency neurological syndrome but their clinical, MRI and Edx changes were not different from the APCA negative group. Neurological manifestations may be caused by B12 deficiency itself rather than the underlying cause.

  15. Neuropsychiatric manifestations of AIDS-spectrum disorders.

    PubMed

    Perry, S; Jacobsen, P

    1986-02-01

    Psychiatric symptoms among patients with acquired immune deficiency syndrome (AIDS) may be functional reactions to contracting a fatal and stigmatizing disease or may be secondary to malignancies and opportunistic infections in the central nervous system (CNS). More recent evidence indicates that HTLV-III, the virus that causes AIDS, directly infects the CNS and may cause psychiatric symptoms before signs of immunodeficiency, cognitive impairment, or neurological abnormalities emerge. AIDS-related organic mental syndromes may mimic functional disorders such as chronic mild depression and acute psychosis. Both of these common presentations are illustrated with detailed case reports, and diagnostic and management guidelines are provided.

  16. Changes of free radicals and digestive enzymes in saliva in cases with deficiency in spleen-yin syndrome.

    PubMed

    Wei, Muxin; Wu, Yanmin; Chen, Dezheng; Gu, Yuchun

    2010-05-01

    To explore the nature of deficiency in spleen-yin syndrome, which could provide scientific theoretical support and practical guidance for clinical Traditional Chinese Medicine (TCM) syndrome differentiation based on biology, and had a strong clinical significance. Serum Cu and Zn were detected by atomic absorption spectrophotometer, serum vitamin E by high performance liquid chromatography, serum vitamin C by 2,4-Dinitrophenylhydrazine Colorimetry, total superoxide dismutase (SOD) and Cu and Zn-SOD by the xanthine oxidase method, and malondialdehyde (MDA) by the 2-thiobarbituric acid method (TBA). Total antioxidant capacity was detected by a colorimetry kit. Amylase Activity was detected by an automatic biochemical analyzer. Lysozyme was detected by lysozyme detection plate, the diameter of bacteriolysis circle was measured and the corresponding content of lysozyme was obtained from a table of standard curve values. No significant difference in total SOD and Cu, Zn-SOD was found between deficiency in spleen-yin group and normal group. However, such factors in deficiency in kidney-yin group were significantly lower than the other groups (P < 0.05). The MDA content in both deficiency in spleen-yin group and deficiency in kidney-yin group were significantly higher than that of normal group (P < 0.05), while the total antioxidant capacity was significantly lower than normal group (P < 0.05). The vitamin E content in deficiency in kidney-yin group was significantly lower than that in the other two groups (P < 0.05). No significant difference in the contents of vitamin C, Cu and Zn were observed in these groups. The Zn/Cu level in deficiency in kidney-yin group and the vitamin E level in deficiency in spleen-yin group decreased, but with no significant difference. Amylase activity in unit time in cases with deficiency in spleen-yin was lower than and had significant differences with that in normal cases, and higher than that in cases with deficiency in kidney-yin. The

  17. 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.

  18. [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.

  19. Prevention of simian acquired immune deficiency syndrome with a formalin-inactivated type D retrovirus vaccine.

    PubMed Central

    Marx, P A; Pedersen, N C; Lerche, N W; Osborn, K G; Lowenstine, L J; Lackner, A A; Maul, D H; Kwang, H S; Kluge, J D; Zaiss, C P

    1986-01-01

    Experimental induction of simian acquired immune deficiency syndrome (SAIDS) by inoculation of juvenile rhesus monkeys with a type D retrovirus was prevented by immunization with Formalin-killed whole SAIDS retrovirus serotype 1 containing the adjuvant threonyl muramyl-dipeptide. All six immunized animals developed neutralizing antibody after three injections, while six age-matched cagemates receiving adjuvant alone were antibody free. All 12 monkeys were challenged intravenously with a potentially lethal dose of SAIDS retrovirus serotype 1. The six immunized animals failed to develop persistent viremia and remained clinically normal 8 months postchallenge. In contrast, five of six nonvaccinates developed persistent viremia, four of six developed clinical SAIDS, and two of six died with SAIDS at 10 weeks and 8 months postchallenge, respectively. These results show that prevention of a common spontaneous retrovirus-induced immunosuppressive disease in macaques is now possible by vaccination. PMID:3021978

  20. 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.

  1. Evidence for genetic heterogeneity in the carbohydrate-deficient glycoprotein syndrome type I (CDG1)

    SciTech Connect

    Matthijs, G.; Legius, E.; Schollen, E.

    1996-08-01

    We have analyzed a series of polymorphic markers on chromosome 16p13 in 17 families with carbohydrate-deficient glycoprotein syndrome type I (CDG1). First, linkage to the region between D15S406 and D16S500 is confirmed. The telomeric border of the candidate region is now definitively placed proximal to D16S406 by crossovers observed in 2 families. Second, in 1 family with affected siblings, the disease is not linked to chromosome 16p. Genetic heterogeneity has not been previously reported for CDG1, and this observation has implications for prenatal diagnosis. Third, allelic associations suggest that the disease locus is localized close to D16S414/D16S497. This places the region of interest centromeric of its published localization. 11 refs., 1 fig., 2 tabs.

  2. Alpha 1 antitrypsin deficiency alleles are associated with joint dislocation and scoliosis in Williams syndrome.

    PubMed

    Morris, Colleen A; Pani, Ariel M; Mervis, Carolyn B; Rios, Cecilia M; Kistler, Doris J; Gregg, Ronald G

    2010-05-15

    Elastin haploinsufficiency is responsible for a significant portion of the Williams syndrome (WS) phenotype including hoarse voice, supravalvar aortic stenosis (SVAS), hernias, diverticuli of bowel and bladder, soft skin, and joint abnormalities. All of the connective tissue signs and symptoms are variable in the WS population, but few factors other than age and gender are known to influence the phenotype. We examined a cohort of 205 individuals with WS for mutations in SERPINA1, the gene that encodes alpha-1-antitrypsin (AAT), the inhibitor of elastase. Individuals with classic WS deletions and SERPINA1 genotypes PiMS or PiMZ were more likely than those with a SERPINA1 PiMM genotype to have joint dislocation or scoliosis. However, carrier status for AAT deficiency was not correlated with presence of inguinal hernia or with presence or severity of SVAS. These findings suggest that genes important in elastin metabolism are candidates for variability in the connective tissue abnormalities in WS.

  3. Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome.

    PubMed

    Willemsen, Michèl A; Vissers, Lisenka Elm; Verbeek, Marcel M; van Bon, Bregje W; Geuer, Sinje; Gilissen, Christian; Klepper, Joerg; Kwint, Michael P; Leen, Wilhelmina G; Pennings, Maartje; Wevers, Ron A; Veltman, Joris A; Kamsteeg, Erik-Jan

    2017-06-01

    Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a neurometabolic disorder with a complex phenotypic spectrum but simple biomarkers in cerebrospinal fluid. The disorder is caused by impaired glucose transport into the brain resulting from variants in SCL2A1. In 10% of GLUT1DS patients, a genetic diagnosis can not be made. Using whole-genome sequencing, we identified a de novo 5'-UTR variant in SLC2A1, generating a novel translation initiation codon, severely compromising SLC2A1 function. This finding expands our understanding of the disease mechanisms underlying GLUT1DS and encourages further in-depth analysis of SLC2A1 non-coding regions in patients without variants in the coding region.

  4. Relationship between pituitary stalk (PS) visibility and the severity of hormone deficiencies: PS interruption syndrome revisited.

    PubMed

    Wang, Weiqing; Wang, Shuwei; Jiang, Yiran; Yan, Fuhua; Su, Tingwei; Zhou, Weiwei; Jiang, Lei; Zhang, Yifei; Ning, Guang

    2015-09-01

    Pituitary stalk interruption syndrome (PSIS) is a rare cause of combined pituitary hormone deficiency characterized by a triad shown in pituitary imaging, yet it has never been evaluated due to the visibility of pituitary stalk (PS) in imaging findings. The major objective of the study was to systematically describe the disease including clinical presentations, imaging findings and to estimate the severity of anterior pituitary hormone deficiency based on the visibility of the PS. This was a retrospective study including 74 adult patients with PSIS in Shanghai Clinical Center for Endocrine and Metabolic Diseases between January 2010 and June 2014. Sixty had invisible PS according to the findings on MRI, while the rest had a thin or intersected PS. Basic characteristics and hormonal status were compared. Of the 74 patients with PSIS, age at diagnosis was 25 (22-28) years. Absent pubertal development (97·3%) was the most common presenting symptom, followed by short stature. Insulin tolerance test (ITT) and gonadotrophin-releasing hormone (GnRH) stimulation test were used to evaluate the function of anterior pituitary. The prevalence of isolated deficiency in growth hormone (GH), gonadotrophins, corticotrophin and thyrotrophin were 100%, 97·2%, 88·2% and 70·3%, respectively. Although the ratio of each deficiency did not vary between patients with invisible PS and with visible PS, panhypopituitarism occurred significantly more frequent in patients with invisible PS. Patients with invisible PS had significantly lower levels of luteinizing hormone (LH), follicle stimulation hormone (FSH) and hormones from targeted glands including morning cortisol, 24-h urine free cortisol, free triiodothyronine (FT3), free thyroxine (FT4) and testosterone (T) in male than patients with visible PS. Moreover, patients with invisible PS had lower peak LH and FSH in GnRH stimulation test, and higher peak cortisol in ITT while peak GH remained unchanged between two groups. The prevalence

  5. 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

  6. Small Bowel Adenocarcinoma Frequently Exhibits Lynch Syndrome-associated Mismatch Repair Protein Deficiency But Does Not Harbor Sporadic MLH1 Deficiency.

    PubMed

    Xia, Michelle; Singhi, Aatur D; Dudley, Beth; Brand, Randall; Nikiforova, Marina; Pai, Reetesh K

    2017-07-01

    Universal screening for Lynch syndrome has been advocated for colorectal carcinoma but its utility in small bowel adenocarcinoma has not been reported. We analyzed a consecutive series of 71 small bowel adenocarcinomas identified over an 8-year period for DNA mismatch repair (MMR) protein expression to (1) compare the clinicopathologic features of small bowel adenocarcinoma stratified into MMR-deficient (MMRD) and MMR-proficient (MMRP) groups and (2) examine the patterns of MMR protein expression in small bowel adenocarcinoma compared with colorectal carcinoma. Six of 71 (8.5%) small bowel adenocarcinomas and 149 of 1291 (11.5%) colorectal carcinomas demonstrated MMRD. The 6 MMRD small bowel adenocarcinomas had the following expression pattern: 3 with concurrent loss of MSH2 and MSH6, 1 with isolated loss of MSH6, and 2 with concurrent loss of MLH1 and PMS2 in patients with a family history suggestive of genetic cancer susceptibility. Histopathology suggestive of MMR protein deficiency as proposed by the revised Bethesda guidelines was commonly seen in both MMRP (63%) and MMRD (67%) small bowel adenocarcinomas (P>0.05). MMRD small bowel adenocarcinoma more frequently demonstrated abnormalities of MSH2 and/or MSH6 (4/6, 67%) compared with MMRD colorectal carcinoma (23/149, 15%) (P=0.01). None of the MMRD small bowel adenocarcinomas harbored the BRAF V600E mutation, whereas 60% of MMRD colorectal carcinomas were positive for BRAF V600E with concurrent loss of MLH1 and PMS2 expression. Small bowel adenocarcinoma more frequently harbored Lynch syndrome-associated MMRD compared with colorectal carcinoma, providing support for screening of small bowel adenocarcinoma to identify patients at risk for Lynch syndrome. In contrast to colorectal carcinoma, sporadic MLH1 deficiency is not seen in small bowel adenocarcinoma. Clinicopathologic and histologic features do not distinguish between MMRP and MMRD small bowel adenocarcinoma indicating that universal screening in small

  7. 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

  8. 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.

  9. The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency

    PubMed Central

    Bigley, Venetia; Haniffa, Muzlifah; Doulatov, Sergei; Wang, Xiao-Nong; Dickinson, Rachel; McGovern, Naomi; Jardine, Laura; Pagan, Sarah; Dimmick, Ian; Chua, Ignatius; Wallis, Jonathan; Lordan, Jim; Morgan, Cliff; Kumararatne, Dinakantha S.; Doffinger, Rainer; van der Burg, Mirjam; van Dongen, Jacques; Cant, Andrew; Dick, John E.; Hambleton, Sophie

    2011-01-01

    Congenital or acquired cellular deficiencies in humans have the potential to reveal much about normal hematopoiesis and immune function. We show that a recently described syndrome of monocytopenia, B and NK lymphoid deficiency additionally includes the near absence of dendritic cells. Four subjects showed severe depletion of the peripheral blood HLA-DR+ lineage− compartment, with virtually no CD123+ or CD11c+ dendritic cells (DCs) and very few CD14+ or CD16+ monocytes. The only remaining HLA-DR+ lineage− cells were circulating CD34+ progenitor cells. Dermal CD14+ and CD1a+ DC were also absent, consistent with their dependence on blood-derived precursors. In contrast, epidermal Langerhans cells and tissue macrophages were largely preserved. Combined loss of peripheral DCs, monocytes, and B and NK lymphocytes was mirrored in the bone marrow by complete absence of multilymphoid progenitors and depletion of granulocyte-macrophage progenitors. Depletion of the HLA-DR+ peripheral blood compartment was associated with elevated serum fms-like tyrosine kinase ligand and reduced circulating CD4+CD25hiFoxP3+ T cells, supporting a role for DC in T reg cell homeostasis. PMID:21242295

  10. 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.

  11. Wiskott-Aldrich syndrome protein deficiency in natural killer and dendritic cells affects antitumor immunity.

    PubMed

    Catucci, Marco; Zanoni, Ivan; Draghici, Elena; Bosticardo, Marita; Castiello, Maria C; Venturini, Massimo; Cesana, Daniela; Montini, Eugenio; Ponzoni, Maurilio; Granucci, Francesca; Villa, Anna

    2014-04-01

    Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency caused by reduced or absent expression of the WAS protein (WASP). WAS patients are affected by microthrombocytopenia, recurrent infections, eczema, autoimmune diseases, and malignancies. Although immune deficiency has been proposed to play a role in tumor pathogenesis, there is little evidence on the correlation between immune cell defects and tumor susceptibility. Taking advantage of a tumor-prone model, we show that the lack of WASP induces early tumor onset because of defective immune surveillance. Consistently, the B16 melanoma model shows that tumor growth and the number of lung metastases are increased in the absence of WASP. We then investigated the in vivo contribution of Was(-/-) NK cells and DCs in controlling B16 melanoma development. We found fewer B16 metastases developed in the lungs of Was(-/-) mice that had received WT NK cells as compared with mice bearing Was(-/-) NK cells. Furthermore, we demonstrated that Was(-/-) DCs were less efficient in inducing NK-cell activation in vitro and in vivo. In summary, for the first time, we demonstrate in in vivo models that WASP deficiency affects resistance to tumor and causes impairment in the antitumor capacity of NK cells and DCs. © 2013 The Authors. European Journal of Immunology published by WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

  12. 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.

  13. Deleterious Effects of Chronic Folate Deficiency in the Ts65Dn Mouse Model of Down Syndrome

    PubMed Central

    Helm, Susan; Blayney, Morgan; Whited, Taylor; Noroozi, Mahjabin; Lin, Sen; Kern, Semira; Green, David; Salehi, Ahmad

    2017-01-01

    Folate is an important B vitamin naturally found in the human diet and plays a critical role in methylation of nucleic acids. Indeed, abnormalities in this major epigenetic mechanism play a pivotal role in the pathogenesis of cognitive deficit and intellectual disability in humans. The most common cause of cognitive dysfunction in children is Down syndrome (DS). Since folate deficiency is very common among the pediatric population, we questioned whether chronic folate deficiency (CFD) exacerbates cognitive dysfunction in a mouse model of DS. To test this, adult Ts65Dn mice and their disomic littermates were chronically fed a diet free of folic acid while preventing endogenous production of folate in the digestive tract for a period of 8 weeks. Our results show that the Ts65Dn mouse model of DS was significantly more vulnerable to CFD in terms of plasma homocysteine and N5-methyltetrahydrofolate (5-MTHF) levels. Importantly, these changes were linked to degenerative alterations in hippocampal dendritic morphology and impaired nest building behavior in Ts65Dn mice. Based on our results, a rigorous examination of folate intake and its metabolism in individuals with DS is warranted. PMID:28649192

  14. Testosterone therapy in men with androgen deficiency syndromes: an Endocrine Society clinical practice guideline.

    PubMed

    Bhasin, Shalender; Cunningham, Glenn R; Hayes, Frances J; Matsumoto, Alvin M; Snyder, Peter J; Swerdloff, Ronald S; Montori, Victor M

    2010-06-01

    Our objective was to update the guidelines for the evaluation and treatment of androgen deficiency syndromes in adult men published previously in 2006. The Task Force was composed of a chair, selected by the Clinical Guidelines Subcommittee of The Endocrine Society, five additional experts, a methodologist, and a medical writer. The Task Force received no corporate funding or remuneration. We recommend making a diagnosis of androgen deficiency only in men with consistent symptoms and signs and unequivocally low serum testosterone levels. We suggest the measurement of morning total testosterone level by a reliable assay as the initial diagnostic test. We recommend confirmation of the diagnosis by repeating the measurement of morning total testosterone and, in some men in whom total testosterone is near the lower limit of normal or in whom SHBG abnormality is suspected by measurement of free or bioavailable testosterone level, using validated assays. We recommend testosterone therapy for men with symptomatic androgen deficiency to induce and maintain secondary sex characteristics and to improve their sexual function, sense of well-being, muscle mass and strength, and bone mineral density. We recommend against starting testosterone therapy in patients with breast or prostate cancer, a palpable prostate nodule or induration or prostate-specific antigen greater than 4 ng/ml or greater than 3 ng/ml in men at high risk for prostate cancer such as African-Americans or men with first-degree relatives with prostate cancer without further urological evaluation, hematocrit greater than 50%, untreated severe obstructive sleep apnea, severe lower urinary tract symptoms with International Prostate Symptom Score above 19, or uncontrolled or poorly controlled heart failure. When testosterone therapy is instituted, we suggest aiming at achieving testosterone levels during treatment in the mid-normal range with any of the approved formulations, chosen on the basis of the patient

  15. 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

  16. Prediabetes Is Associated with an Increased Risk of Testosterone Deficiency, Independent of Obesity and Metabolic Syndrome

    PubMed Central

    Ho, Chen-Hsun; Yu, Hong-Jeng; Wang, Chih-Yuan; Jaw, Fu-Shan; Hsieh, Ju-Ton; Liao, Wan-Chung; Pu, Yeong-Shiau; Liu, Shih-Ping

    2013-01-01

    Objective The association between type 2 diabetes and low testosterone has been well recognized. However, testosterone levels in men with prediabetes have been rarely reported. We aimed to investigate whether prediabetes was associated with an increased risk of testosterone deficiency. Methods This study included 1,306 men whose sex hormones was measured during a medical examination. Serum total testosterone and sex hormone-binding globulin were measured; free and bioavailable testosterone concentrations were calculated by Vermeulen’s formula. Prediabetes was defined by impaired fasting glucose (IFG), impaired postprandial glucose (IPG), or glycated hemoglobin (HbA1c) 5.7%-6.4%. Logistic regression was performed to obtain the odds ratios (OR) for subnormal total testosterone (<300 ng/dL) or free testosterone (<6 ng/dL) in prediabetic and diabetic men compared with normoglycemic individuals, while adjusting for age, BMI, waist circumference, and metabolic syndrome (MetS). Results Normoglycemia, prediabetes, and diabetes were diagnosed in 577 (44.2%), 543 (41.6%), and 186 (14.2%) men, respectively. Prediabetes was associated with an increased risk of subnormal total testosterone compared to normoglycemic individuals (age-adjusted OR=1.87; 95%CI=1.38-2.54). The risk remained significant in all multivariate analyses. After adjusting for MetS, the OR in prediabetic men equals that of diabetic patients (1.49 versus 1.50). IFG, IPG, and HbA1c 5.7%-6.4% were all associated with an increased risk of testosterone deficiency, with different levels of significance in multivariate analyses. However, neither prediabetes nor diabetes was associated with subnormal free testosterone in multivariate analyses. Conclusions Prediabetes is associated with an increased risk of testosterone deficiency, independent of obesity and MetS. After adjusting for MetS, the risk equals that of diabetes. Our data suggest that testosterone should be measured routinely in men with prediabetes. PMID

  17. New Paradigm for the Treatment of Glucose Transporter 1 Deficiency Syndrome: Low Glycemic Index Diet and Modified High Amylopectin Cornstarch.

    PubMed

    Almuqbil, Mohammed; Go, Cristina; Nagy, Laura L; Pai, Nisha; Mamak, Eva; Mercimek-Mahmutoglu, Saadet

    2015-09-01

    Glucose transporter 1 deficiency syndrome is an autosomal, dominantly inherited neurometabolic disorder caused by mutations in the SLC2A1 gene. Decreased glucose transport into the brain results in seizures and cognitive dysfunction. The ketogenic diet is the treatment of choice, but complicated with compliance problems. Stabilization of blood glucose levels by low glycemic index diet and modified high amylopectin cornstarch would provide steady-state glucose transport into the brain to prevent seizures and cognitive dysfunction in patients with glucose transporter 1 deficiency syndrome as an alternative treatment. We report a new glucose transporter 1 deficiency syndrome patient (c.988C>T; p. Arg330X in the SLC2A1) treated with modified high amylopectin cornstarch (Glycosade) and low glycemic index diet because of compliance problems with the ketogenic diet. She was diagnosed at 11.5 years of age and was treated with the ketogenic diet between ages 12 and 18 years. She was started on modified high amylopectin cornstarch at bedtime and low glycemic index diet with meals and snacks every 3-4 hours. Within the first 6 months of therapy, she improved in her seizures and cognitive functions, but experienced compliance problems afterwards. Neuropsychological assessment was stable at 12 months of therapy. This diet was easy to apply compared with the ketogenic diet and resulted in stable neuropsychological functioning of this glucose transporter 1 deficiency syndrome patient. Modified high amylopectin cornstarch and low glycemic index diet might be an alternative treatment in glucose transporter 1 deficiency syndrome patients with compliance problems to the ketogenic diet treatment, but additional patients should be treated to prove usefulness of this new treatment. Crown Copyright © 2015. Published by Elsevier Inc. All rights reserved.

  18. NMR-based urinalysis for rapid diagnosis of β-ureidopropionase deficiency in a patient with Dravet syndrome.

    PubMed

    Lam, Ching-Wan; Law, Chun-Yiu; Leung, Ka-Fei; Lai, Chi-Kong; Pak-lam Chen, Sammy; Chan, Bosco; Chan, Kwok-Yin; Yuen, Yuet-ping; Mak, Chloe Miu; Yan-wo Chan, Albert

    2015-02-02

    Beta-ureidopropionase deficiency is a rare inborn error of metabolism (IEM) affecting pyrimidine metabolism. To-date, about 30 genetically confirmed cases had been reported. The clinical phenotypes of this condition are variable; some patients were asymptomatic while some may present with developmental delay or autistic features. In severe cases, patients may present with profound neurological deficit including hypotonia, seizures and mental retardation. Using NMR-based urinalysis, this condition can be rapidly diagnosed within 15 min. An 11-month-old Chinese boy had dual molecular diagnoses, β-ureidopropionase deficiency and Dravet syndrome. He presented with intractable and recurrent convulsions, global developmental delay and microcephaly. Urine organic acid analysis using GC-MS and NMR-based urinalysis showed excessive amount of β-ureidopropionic acid and β-ureidoisobutyric acid, the two disease-specific markers for β-ureidopropionase deficiency. Genetic analysis confirmed homozygous known disease-causing mutation UPB1 NM_016327.2: c.977G>A; NP_057411.1:p.R326Q. In addition, genetic analysis for Dravet syndrome showed the presence of heterozygous disease-causing mutation SCN1A NM_001165963.1:c.4494delC; NP_001159435.1:p.F1499Lfs*2. The differentiation between Dravet syndrome and β-ureidopropionase deficiency is clinically challenging since both conditions share overlapping clinical features. The detection of urine β-ureidoisobutyric and β-ureidopropionic acids using NMR or GC-MS is helpful in laboratory diagnosis of β-ureidopropionase deficiency. The disease-causing mutation, c.977G>A of β-ureidopropionase deficiency, is highly prevalent in Chinese population (allele frequency=1.7%); β-ureidopropionase deficiency screening test should be performed for any patients with unexplained neurological deficit, developmental delay or autism. Copyright © 2014 Elsevier B.V. All rights reserved.

  19. [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.

  20. 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.

  1. Adding to the controversy: pitfalls in the diagnosis of testosterone deficiency syndromes with questionnaires and biochemistry.

    PubMed

    Morales, A; Spevack, M; Emerson, L; Kuzmarov, I; Casey, R; Black, A; Tremblay, R

    2007-06-01

    To determine the value of available questionnaires used for the diagnosis of testosterone deficiency syndromes (TDS) by correlating their ratings with a panel of hormonal determinations in a male population. Participants completed the ADAM questionnaire and underwent biochemical evaluation at the local site. Assessments determined entry into Group A (symptomatic) or Group B (non-symptomatic). After stratification, subjects provided a morning sample of blood, completed the Aging Male Survey (AMS) and the newly developed Canadian Society for the Study of the Aging Male (CSAM-Q) questionnaires. Serum aliquots were analysed at a central lab for 8 putative markers commonly associated with symptomatic testosterone deficiency associated with aging: total testosterone (T); bioavailable T (BT); dehydroepiandrosterone sulphate (DHEA-S); sex-hormone binding globulin (SHBG); luteinizing hormone (LH), prolactin (PRL); thyroid-stimulating hormone (TSH) and insulin-like growth factor-1 (IGF-1). 92 men were screened; of these 59 (mean age of 58+/-11 years) completed the study, 30 (51%) scored positively (mean 61.5 years) to the ADAM while 29 (49%) did not (mean 54.1 years). For the AMS the weight of the three domains (psychological, somato-vegetative and sexual) was significantly greater in Group A (p<0.001) than in Group B. Equally, for the CAS questionnaire, the scores for the variables energy, global performance, frequency of intercourse, mood and quality of sleep were lower in Group A than in their asymptomatic counterparts (p<0.001). The domain of memory assessment within the CSSAM-Q was not discriminatory. ADAM and AMS are self-administered and completed within 10 minutes. CSSAM-Q is more time consuming, requires an investigator to administer, and memory domain is biased in favour of specific professional training. No difference was found between the two groups in 6 of 8 biochemical tests. However, significant lower values (p<0.001) were found for DHEA-S and IGF-1 in the

  2. 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…

  3. 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…

  4. 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.

  5. 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

  6. Exploration of Death Anxiety as a Function of Religious Variables in Gay Men with and without AIDS.

    ERIC Educational Resources Information Center

    Franks, Kent; And Others

    1991-01-01

    Investigated relationship of religious variables to death anxiety in 51 homosexual men with Acquired Immune Deficiency Syndrome (AIDS) and 64 homosexual men without AIDS. Found higher death anxiety in men with AIDS associated with greater church attendance, belonging to religion of childhood, citing religion to have been harmful, and not adhering…

  7. Students' Knowledge Base and Attitudes on Safer Sex, Condoms and AIDS: A Study of Three Colleges of Pharmacy.

    ERIC Educational Resources Information Center

    Noormohamed, Saleem E.; And Others

    1994-01-01

    A survey of 848 pharmacy students at 3 universities investigated their knowledge and attitudes about safe sex practices and Acquired Immune Deficiency Syndrome (AIDS), sources of AIDS information, role of the pharmacists in AIDS prevention, and willingness to associate with or serve human immunodeficiency virus (HIV) infected individuals.…

  8. 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.

  9. 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

  10. 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.

  11. 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…

  12. 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…

  13. 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…

  14. 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…

  15. 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…

  16. 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…

  17. 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)

  18. 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…

  19. 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…

  20. The CDC AIDS Survey: A Psychometric Critique.

    ERIC Educational Resources Information Center

    Volkan, Kevin

    The latent structure, reliability, and item discrimination of 33 items on a Centers for Disease Control (CDC) instrument representing knowledge, attitudes, and beliefs about the acquired immune deficiency syndrome (AIDS) were assessed. The study sample included 311 adolescents ranging from ages 12 to 19 years. Demographic characteristics of the…