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Sample records for deficiency syndrome aids

  1. Acquired immune deficiency syndrome (AIDS).

    PubMed

    1987-02-01

    The International Planned Parenthood Medical Advisory Panel has developed recommendations to assist family planning associations in playing a more active role in the prevention and control of acquired immunodeficiency syndrome (AIDS). Of primary importance is an effective program of information and education aimed at communicating the following facts: AIDS is a fatal disease for which there is no cure; AIDS is spread by sexual intercourse, contaminated blood, and contaminated needles; an infected woman can transmit AIDS to her fetus during pregnancy; a monogamous sexual relationship is the surest way to avoid AIDS infection; condom use is good protection; an infected person can look and feel well, yet still be able to transmit the AIDS virus; and AIDS is not spread by ordinary contact with an infected person. Family planning associations should include information on AIDS in all existing IEC projects, as well as develop new materials. Among the target audiences for IEC activities are family planning workers, family planning clients, and the general public including youth, teachers, parents, employers, and national leaders. Special attention should be given to high-risk groups such as homosexual and bisexual men, hemophiliacs, male and female prostitutes, clients of sexually transmitted disease clinics, people with many sexual partners, illegal users of intravenous drugs, and the sexual partners of those in any of these groups. Wide promotion of condom use is a priority activity for family planning organizations. PMID:12340977

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

    ERIC Educational Resources Information Center

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

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

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

    ERIC Educational Resources Information Center

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

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

  4. 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…

  5. 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…

  6. Semantic Differential Responses to Educational Posters on Acquired Immune Deficiency Syndrome (AIDS).

    ERIC Educational Resources Information Center

    Wilson, Christopher; Stewin, Leonard L.

    1992-01-01

    Undergraduate students (n=131) responded to eight educational posters dealing with the Acquired Immune Deficiency Syndrome (AIDS) using a nine-item semantic differential scale. Two posters were consistently rated as more informative, reassuring, effective, decent, and better than the others. The first utilized an objective and informative…

  7. Non-pulmonary Rhodococcus equi infections in patients with acquired immune deficiency syndrome (AIDS).

    PubMed Central

    Fierer, J; Wolf, P; Seed, L; Gay, T; Noonan, K; Haghighi, P

    1987-01-01

    Rhodococcus equi, formerly known as Corynebacterium equi, was isolated repeatedly from the blood of two patients with the acquired immune deficiency syndrome (AIDS). Neither of the patients had pneumonia while they were bacteraemic, whereas pneumonia has been present in all previously reported cases of human infection with R equi. One of our patients had diarrhoea and the organism was isolated from a stool culture; the other patient had a large granulomatous soft tissue mass in his pelvis caused by R equi. Both isolates were resistant to penicillin and one produced a beta-lactamase. Both patients were treated with vancomycin but only one recovered. Images Figure PMID:3584508

  8. 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.…

  9. Creatine deficiency syndromes.

    PubMed

    Schulze, Andreas

    2003-02-01

    Since the first description of a creatine deficiency syndrome, the guanidinoacetate methyltransferase (GAMT) deficiency, in 1994, the two further suspected creatine deficiency syndromes--the creatine transporter (CrT1) defect and the arginine:glycine amidinotransferase (AGAT) deficiency were disclosed. GAMT and AGAT deficiency have autosomal-recessive traits, whereas the CrT1 defect is a X-linked disorder. All patients reveal developmental delay/regression, mental retardation, and severe disturbance of their expressive and cognitive speech. The common feature of all creatine deficiency syndromes is the severe depletion of creatine/phosphocreatine in the brain. Only the GAMT deficiency is in addition characterized by accumulation of guanidinoacetic acid in brain and body fluids. Guanidinoacetic acid seems to be responsible for intractable seizures and the movement disorder, both exclusively found in GAMT deficiency. Treatment with oral creatine supplementation is in part successful in GAMT and AGAT deficiency, whereas in CrT1 defect it is not able to replenish creatine in the brain. Treatment of combined arginine restriction and ornithine substitution in GAMT deficiency is capable to decrease guanidinoacetic acid permanently and improves the clinical outcome. The lack of the creatine/phosphocreatine signal in the patient's brain by means of in vivo proton magnetic resonance spectroscopy is the common finding and the diagnostic clue in all three diseases. In AGAT deficiency guanidinoacetic acid is decreased, whereas creatine in blood was found to be normal. On the other hand the CrT1 defect is characterized by an increased concentration of creatine in blood and urine whereas guanidinoacetic acid concentration is normal. The increasing number of patients detected very recently suffering from a creatine deficiency syndrome and the unfavorable outcome highlights the need of further attempts in early recognition of affected individuals and in optimizing its treatment

  10. Acquired Immune-Deficiency Syndrome, AIDS, and the Development of School Board Policies.

    ERIC Educational Resources Information Center

    Miller, Jean Marie

    1989-01-01

    Public schools in Illinois have been developing policies for students and employees with AIDS or AIDS-Related Complex (ARC). Following national and state guidelines and recommendations, boards of education have adopted approaches that include procedures and policies for individual determinations regarding students and personnel, curriculum…

  11. 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.

  12. 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

  13. 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

  14. 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,…

  15. 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

  16. 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…

  17. Disialotransferrin developmental deficiency syndrome.

    PubMed Central

    Kristiansson, B; Andersson, M; Tonnby, B; Hagberg, B

    1989-01-01

    Seven mentally deficient children and adolescents (three pairs of siblings and one singleton) were studied. A peculiar external appearance, a characteristic neurohepatosubcutaneous tissue impairment syndrome and, as a biological marker, an abnormal sialic acid transferrin pattern were characteristic features. All seven seemed odd from birth and prone to acute cerebral dysfunction during catabolic states. Abnormal lower neurone, cerebellar, and retinal functions dominated from later childhood. The disialotransferrin pattern found in serum and cerebrospinal fluid is thought to be the biological marker of a newly discovered inborn error of glycoprotein metabolism with autosomal recessive inheritance. Images Fig 1 Fig 2 p74-b PMID:2466439

  18. Primary antibody deficiency syndromes.

    PubMed

    Wood, P

    2009-03-01

    The primary antibody deficiency syndromes are a group of rare disorders characterized by an inability to produce clinically effective immunoglobulin responses. Some of these disorders result from genetic mutations in genes involved in B cell development, whereas others appear to be complex polygenic disorders. They most commonly present with recurrent infections due to encapsulated bacteria, although in the most common antibody deficiency, Common Variable Immunodeficiency, systemic and organ-specific autoimmunity can be a presenting feature. Diagnostic delay in this group of disorders remains a problem, and the laboratory has a vital role in the detection of abnormalities in immunoglobulin concentration and function. It is critical to distinguish this group of disorders from secondary causes of hypogammaglobulinaemia, in particular lymphoid malignancy, and appropriate laboratory investigations are of critical importance. Treatment of primary antibody deficiencies involves immunoglobulin replacement therapy, either via the intravenous or subcutaneous route. Patients remain at risk of a wide variety of complications, not all linked to diagnostic delay and inadequate therapy. In common variable immunodeficiency (CVID) in particular, patients remain at significantly increased risk of lymphoid malignancy, and regular clinical and laboratory monitoring is required. This review aims to give an overview of these conditions for the general reader, covering pathogenesis, clinical presentation, laboratory investigation, therapy and clinical management. PMID:19151170

  19. Outcome of patients with relapsed/refractory acquired immune deficiency syndrome-related lymphoma diagnosed 1999-2008 and treated with curative intent in the AIDS Malignancy Consortium.

    PubMed

    Bayraktar, Ulas D; Ramos, Juan Carlos; Petrich, Adam; Gupta, Neel; Lensing, Shelly; Moore, P C; Reid, Erin G; Aboulafia, David M; Ratner, Lee; Mitsuyasu, Ronald; Cooley, Timothy; Henry, David H; Barr, Paul; Noy, Ariela

    2012-12-01

    No comparative studies exist for relapsed/refractory (rel/rfr) acquired immune deficiency syndrome (AIDS)-related lymphoma (ARL). To determine practices over the last decade and to assess the outcomes of salvage chemotherapy with curative intent and autologous stem cell transplant (ASCT), we retrospectively evaluated treatment outcomes in patients with rel/rfr ARL who were treated in 13 national AIDS Malignancy Consortium (AMC) sites between 1999 and 2008 (n = 88). The most commonly used second-line therapies were ICE (ifosfamide/carboplatin/etoposide, n = 34), dose adjusted EPOCH (etoposide/prednisone/vincristine/cyclophosphamide/doxorubicin, n = 17) and ESHAP (etoposide/methylprednisolone/cytarabine/cisplatin, n = 11). The odds of achieving a response were lower for those with non-Hodgkin lymphoma (NHL) than for those with HL and for those with primary refractory disease than for those with relapse. Overall survival (OS) was significantly longer for those with relapsed disease compared to those with refractory disease and for those with non-Burkitt NHL compared to those with Burkitt. OS was longer in patients who underwent ASCT compared to those who did not (1-year OS: 63.2% vs. 37.2%). However, among 32 patients (36%) who achieved a complete or partial response (CR/PR) after second-line therapy, 1-year OS was not different between the two groups (87.5% for ASCT vs. 81.8% for non-ASCT). Long-term survival in some patients with rel/rfr ARL may be possible without transplant, although transplant remains the standard of care for chemotherapy sensitive disease. PMID:22642936

  20. Mitochondrial deficiency in Cockayne syndrome

    PubMed Central

    Scheibye-Knudsen, Morten; Croteau, Deborah L.; Bohr, Vilhelm A.

    2013-01-01

    Cockayne syndrome is a rare inherited disorder characterized by accelerated aging, cachectic dwarfism and many other features. Recent work has implicated mitochondrial dysfunction in the pathogenesis of this disease. This is particularly interesting since mitochondrial deficiencies are believed to be important in the aging process. In this review, we will discuss recent findings of mitochondrial pathology in Cockayne syndrome and suggest possible mechanisms for the mitochondrial dysfunction. PMID:23435289

  1. Unusual development of polyoma virus in the brains of two patients with the acquired immune deficiency syndrome (AIDS).

    PubMed

    Scaravilli, F; Ellis, D S; Tovey, G; Harcourt-Webster, J N; Guiloff, R J; Sinclair, E

    1989-01-01

    Two HIV-positive male patients presented with a variety of symptoms including hemiparesis, unsteadiness, progressive loss of vision and poor memory. There were multiple non-enhancing lesions shown by CT scan in the white matter of the cerebral hemispheres. Specimens obtained by burr-hole biopsy showed the features of progressive multifocal leucoencephalopathy (PML) in both cases. Electron microscopy demonstrated round and rod shaped particles of papovavirus in the nuclei and cytoplasm of oligodendrocytes and in processes of astrocytes where abnormal and florid modes of viral replication were seen. Additional features observed were viral particles suggestive of an enterovirus in Case 1 and, in both specimens, massive membrane proliferation within both nuclei and cytoplasm of infected cells together with the presence of tubuloreticular structures (TRS) in the cytoplasm of endothelial cells. At post-mortem, the brain of patient 2 showed PML and HIV encephalitis. The presence of HIV was confirmed by immunohistochemical methods. We suggest that in AIDS patients the abnormality of the immune system induced by HIV causes abnormal replication patterns of papovavirus in the brain. In addition, these cases confirm the frequent occurrence in AIDS patients of TRS, now considered to be a marker for HIV. PMID:2555730

  2. 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. PMID:6540476

  3. 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…

  4. Neurologic Complications of the Acquired Immune Deficiency Syndrome

    PubMed Central

    Slade, Walter R.

    1987-01-01

    The acquired immune deficiency syndrome (AIDS) is a syndrome requiring unique knowledge of its versatile manifestations for accurate diagnosis and skillfull management of its numerous complications for successful treatment. The human T-cell lymphotropic virus type III (HTLV-III), a replication-complete virus, is now reported as the etiologic agent. The neurologic complications of AIDS cover the spectrum of neurologic diseases and usually have multiple causative factors, all of which should be appropriately managed. These complications can be successfully treated, although constant monitoring is required because recurrence is frequent. The neurologic complications are the second most frequent cause of death in AIDS patients. Tests that are usually reliable in diagnosing neurologic diseases may not be reliable in patients with AIDS. The management of AIDS is a multidisciplinary effort, and the neurologist should fulfill a role in the management team. ImagesFigure 1Figure 2Figure 3Figure 4 PMID:3334059

  5. 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 medication can suppress symptoms. ...

  6. Antibody deficiency in Rubinstein-Taybi syndrome.

    PubMed

    Herriot, R; Miedzybrodzka, Z

    2016-03-01

    The developmental disorder Rubinstein-Taybi syndrome (RTS) is frequently complicated by recurrent respiratory infections. In many cases this is likely to be the result of microaspiration or gastro-oesophageal reflux but, in a proportion, underlying antibody deficiency is a potentially modifiable susceptibility factor for infection. Relatively subtle, specific defects of pneumococcal antibody production have previously been described in the context of RTS. Here, we report a rare association between the syndrome and an overt, major primary antibody deficiency disorder (common variable immune deficiency) which was successfully managed with immunoglobulin replacement therapy. Early recognition and investigation for antibody deficiency associated with RTS allied to effective and optimized treatment are essential to minimize morbidity and mortality and improve quality and duration of life. PMID:26307339

  7. 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…

  8. Netherton syndrome associated with growth hormone deficiency.

    PubMed

    Aydın, Banu Küçükemre; Baş, Firdevs; Tamay, Zeynep; Kılıç, Gürkan; Süleyman, Ayşe; Bundak, Rüveyde; Saka, Nurçin; Özkaya, Esen; Güler, Nermin; Darendeliler, Feyza

    2014-01-01

    Netherton syndrome (NS) is a rare autosomal recessive disorder characterized by ichthyosiform scaling, hair abnormalities, and variable atopic features. Mutations in the serine protease inhibitor Kazal type 5 (SPINK5) gene leading to lymphoepithelial Kazal-type-related inhibitor (LEKTI) deficiency cause NS. Growth retardation is a classic feature of NS, but growth hormone (GH) deficiency with subsequent response to GH therapy is not documented in the literature. It is proposed that a lack of inhibition of proteases due to a deficiency of LEKTI in the pituitary gland leads to the overprocessing of human GH in NS. Herein we report three patients with NS who had growth retardation associated with GH deficiency and responded well to GH therapy. PMID:24015757

  9. 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. PMID:27250207

  10. Precipitable immune complexes in healthy homosexual men, acquired immune deficiency syndrome and the related lymphadenopathy syndrome.

    PubMed Central

    Euler, H H; Kern, P; Löffler, H; Dietrich, M

    1985-01-01

    Increased levels of 3% PEG precipitable circulating immune complexes (CIC) were found in healthy homosexual men, in homosexual patients with the acquired immune deficiency syndrome (AIDS), and in the AIDS related lymphadenopathy syndrome (LAS). The degree of CIC elevation increases from healthy homosexual men to LAS and AIDS. Patients suffering from AIDS associated with opportunistic infections had a more pronounced increase in CIC than patients with AIDS associated Kaposi's sarcoma. In LAS and AIDS the amount of CIC correlated with the degree of inversion of the T4/T8 lymphocyte ratio, whereas in healthy homosexual men with increased levels of CIC the T4/T8 ratio was not significantly altered. Laser nephelometric partial components analysis revealed that these complexes were of a complement poor subtype with low component levels of C4, C1q and C3c. IgM and IgG were found to be the major components. It is suggested that these CIC might represent a marker of the total antigenic burden of the immune system. Possibly, they are of prognostic and monitoring value for clinical handling of patients at risk for AIDS. PMID:3156700

  11. 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

  12. Gastrointestinal surgery and the acquired immune deficiency syndrome

    PubMed Central

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

    2015-01-01

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

  13. GLUT1 deficiency syndrome in clinical practice.

    PubMed

    Klepper, Joerg

    2012-07-01

    GLUT1 deficiency syndrome (GLUT1DS) is caused by impaired glucose transport into brain and is effectively treated by means of a ketogenic diet. In clinical practice the diagnosis of GLUT1DS often is challenging due to the increasing complexity of symptoms, diagnostic cut-offs for hypoglycorrhachia and genetic heterogeneity. In terms of treatment alternative ketogenic diets and their long-term side effects as well as novel compounds such as alpha-lipoic acid and triheptanoin have raised a variety of issues. The current diagnostic and therapeutic approach to GLUT1DS is discussed in this review in view of these recent developments. PMID:21382692

  14. Introduction and immunopathogenesis of acquired immune deficiency syndrome

    PubMed Central

    Sudharshan, S

    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. PMID:18711263

  15. The spatial distribution pattern of human immunodeficiency virus/acquired immune deficiency syndrome in China.

    PubMed

    Wang, Ying; Yang, Yongli; Shi, Xuezhong; Mao, Saicai; Shi, Nian; Hui, Xiaoqing

    2016-01-01

    Human immunodeficiency virus (HIV) infection and the acquired immune deficiency syndrome (AIDS) exhibit variable patterns among the provinces of China. Knowledge of the geographical distribution of the HIV/AIDS epidemic is needed for the prevention and control of AIDS. Thus, the cumulative number of reported cases of HIV/AIDS from the period 1985-2013, and the incidence rate of AIDS in 2013 were determined. Spatial autocorrelation analysis and hotspot analysis were conducted using ArcGIS10.2 to explore the spatial distribution of the HIV/AIDS epidemic. Both the thematic map and the global spatial autocorrelation Moran's I statistics revealed a clustered distribution of the spatial pattern. A local spatial autocorrelation analysis indicated hotspots of AIDS incidence rate that were confined to the provinces of Guangxi, Yunnan and Sichuan. The hotspots encompassed Guangxi and Yunnan, while Henan Province displayed a negative autocorrelation with more variable numbers that included neighbouring regions. The Getis-Ord Gi* statistics identified 6 hotspots and 8 coldspots for the incidence of AIDS, and 7 hotspots and 1 coldspot for the cumulative number of reported cases of HIV/AIDS. The spatial distribution pattern of the HIV/AIDS epidemic in China is clustered, demonstrating hotspots located in the Southwest. Specific interventions targeting provinces with severe HIV/AIDS epidemic are urgently needed. PMID:27245799

  16. B Vitamin deficiency and neuropsychiatric syndromes in alcohol misuse.

    PubMed

    Cook, C C; Hallwood, P M; Thomson, A D

    1998-01-01

    Alcohol misuse and alcohol withdrawal are associated with a variety of neuropsychiatric syndromes, some of which are associated with significant morbidity and mortality. B vitamin deficiency is known to contribute to the aetiology of a number of these syndromes, and B vitamin supplementation thus plays a significant part in prophylaxis and treatment. In particular, the Wernicke Korsakoff syndrome (WKS). due to thiamine deficiency, is a common condition in association with alcohol misuse, and is associated with high morbidity and mortality. Nicotinamide deficiency may result in a rarer condition, alcoholic pellagra encephalopathy, which often has a similar clinical presentation to WKS. This review considers the role of B vitamins in the aetiology and treatment of neuropsychiatric syndromes associated with alcohol misuse, with particular emphasis on WKS. PMID:9719389

  17. 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.

  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. AIDS Training in the Workplace.

    ERIC Educational Resources Information Center

    Vest, Jusanne M.; And Others

    1991-01-01

    Management training regarding Acquired Immune Deficiency Syndrome (AIDS) begins with three needs assessment tools--instruments measuring fear of AIDS, knowledge of AIDS, and beliefs about the business consequences of the disease. (SK)

  1. 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. PMID:23666044

  2. MICROFICHE AIDS DATA

    EPA Science Inventory

    This data set contains counts of AIDS (Acquired Immune Deficiency Syndrome) cases reported to state and local health departments, by demographics; case-definition; HIV exposure group (risk factors for AIDS); Half-year of diagnosis, report, and death.

  3. Behcet's disease in acquired immune deficiency syndrome.

    PubMed

    Siddiqui, Beenish; Fernandes, Denise; Chaucer, Benjamin; Chevenon, Marie; Nandi, Minesh; Saverimuttu, Jessie; Nfonoyim, Jay

    2016-01-01

    HIV/AIDS patients often present with orogenital ulcers. In the immunocompromised patient diagnosis of these ulcers pose a challenge, as there is a myriad of etiologies. We present a case of an HIV/AIDS patient with recurrent orogenital aphthosis that was confirmed to have concomitant diagnosis of Behcet's disease. Proper awareness of the causes of these ulcers is essential for prompt and effective treatment. While rare causes may be at the bottom of a differential list in an immunocompetent host, when HIV/AIDS is involved these rare causes often percolate to the top. PMID:26793479

  4. Behcet's disease in acquired immune deficiency syndrome

    PubMed Central

    Siddiqui, Beenish; Fernandes, Denise; Chaucer, Benjamin; Chevenon, Marie; Nandi, Minesh; Saverimuttu, Jessie; Nfonoyim, Jay

    2015-01-01

    HIV/AIDS patients often present with orogenital ulcers. In the immunocompromised patient diagnosis of these ulcers pose a challenge, as there is a myriad of etiologies. We present a case of an HIV/AIDS patient with recurrent orogenital aphthosis that was confirmed to have concomitant diagnosis of Behcet's disease. Proper awareness of the causes of these ulcers is essential for prompt and effective treatment. While rare causes may be at the bottom of a differential list in an immunocompetent host, when HIV/AIDS is involved these rare causes often percolate to the top. PMID:26793479

  5. Kwashiorkor-like zinc deficiency syndrome in anorexia nervosa.

    PubMed

    Esca, S A; Brenner, W; Mach, K; Gschnait, F

    1979-01-01

    This report deals with a 26-year-old white woman exhibiting signs of both Kwashiorkor (marasmus, pallor, hypopigmentation of hair and hepatomegaly) and acrodermatitis enteropathica (eczematous dermatitis predominantly on acral areas). Clinical and laboratory examinations excluded malabsorption syndrome and glucagonoma syndrome and revealed hypoproteinemia and marked zinc deficiency. Psychiatric examination disclosed anorexia nervosa. Substitution therapy led to rapid clearing of the skin lesions. PMID:92154

  6. 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

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

    PubMed

    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/mm(3). 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

  8. Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology.

    PubMed

    Stockler, Sylvia; Schutz, Peter W; Salomons, Gajja S

    2007-01-01

    Cerebral creatine deficiency syndromes (CCDSs) are a group of inborn errors of creatine metabolism comprising two autosomal recessive disorders that affect the biosynthesis of creatine--i.e. arginine:glycine amidinotransferase deficiency (AGAT; MIM 602360) and guanidinoacetate methyltransferase deficiency (GAMT; MIM 601240)--and an X-linked defect that affects the creatine transporter, SLC6A8 deficiency (SLC6A8; MIM 300036). The biochemical hallmarks of these disorders include cerebral creatine deficiency as detected in vivo by 1H magnetic resonance spectroscopy (MRS) of the brain, and specific disturbances in metabolites of creatine metabolism in body fluids. In urine and plasma, abnormal guanidinoacetic acid (GAA) levels are found in AGAT deficiency (reduced GAA) and in GAMT deficiency (increased GAA). In urine of males with SLC6A8 deficiency, an increased creatine/creatinine ratio is detected. The common clinical presentation in CCDS includes mental retardation, expressive speech and language delay, autistic like behaviour and epilepsy. Treatment of the creatine biosynthesis defects has yielded clinical improvement, while for creatine transporter deficiency, successful treatment strategies still need to be discovered. CCDSs may be responsible for a considerable fraction of children and adults affected with mental retardation of unknown etiology. Thus, screening for this group of disorders should be included in the differential diagnosis of this population. In this review, also the importance of CCDSs for the unravelling of the (patho)physiology of cerebral creatine metabolism is discussed. PMID:18652076

  9. Olivopontocerebellar atrophy of neonatal onset and disialotransferrin developmental deficiency syndrome.

    PubMed Central

    Horslen, S P; Clayton, P T; Harding, B N; Hall, N A; Keir, G; Winchester, B

    1991-01-01

    Two brothers presented with olivopontocerebellar atrophy of neonatal onset. The clinical features (failure to thrive, hypotonia, liver disease, effusions, and visual inattention) were similar to those of the four cases already reported, as were the necropsy findings of olivopontocerebellar atrophy, hepatic steatosis and fibrosis, and microcystic renal changes. The clinical similarities between this and the disialotransferrin developmental deficiency syndrome were noted. The characteristic abnormality of serum transferrin found in the latter syndrome was also found in the two cases reported here. We suggest that both syndromes are caused by the same, or related, defects in glycoprotein metabolism. Images Figure 2 p1028-b Figure 3 p1029-b Figure 4 PMID:1929507

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

    PubMed

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

    2015-01-01

    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. PMID:26156834

  11. Watergate Lawyer Syndrome; An Educational Deficiency Disease

    ERIC Educational Resources Information Center

    Watson, Andrew S.

    1974-01-01

    Observes the failure of law schools to teach students how to cope with the professional stress induced by complicated conflicts of interest. Describes resulting insensitivity and unawareness which can lead to unprofessional and unethical behavior. Suggests how schools and graduates can help alleviate the syndrome. (JT)

  12. 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…

  13. Antibody levels for cytomegalovirus, herpes simplex virus, and rubella in patients with acquired immune deficiency syndrome.

    PubMed Central

    Halbert, S P; Kiefer, D J; Friedman-Kien, A E; Poiesz, B

    1986-01-01

    Significantly higher proportions of patients with acquired immune deficiency syndrome (AIDS) or lymphadenopathy syndrome (LAS) were positive for antibodies to cytomegalovirus (CMV) and herpes simplex virus (HSV) compared with control groups of commercial blood donors. In contrast, no differences were found in the incidence of individuals positive for antibodies to rubella in these groups of subjects. Of those positive for antibodies to CMV and HSV in each group, the mean antibody levels were significantly higher in AIDS-LAS patients compared with the controls. The entire distribution of antibody concentrations to CMV and HSV in AIDS patients was shifted upward, so that significantly more patients showed high values and significantly fewer showed low values, indicating hyperactive humoral immune responses to these viruses. In sharp contrast, the AIDS patients with antibody levels for rubella showed the same distribution of antibody levels as did two groups of controls. No correlation was found between concentrations of CMV and HSV antibodies in individual AIDS-LAS patients. PMID:3009534

  14. Hereditary cancer syndromes: utilizing DNA repair deficiency as therapeutic target.

    PubMed

    Goyal, Gaurav; Fan, Tiffany; Silberstein, Peter Todd

    2016-07-01

    Human cells have numerous repair mechanisms to counteract various insults incurred on the DNA. Any mutation in these repair mechanisms can lead to accumulation of DNA errors and carcinogenesis. This review aims to discuss the therapeutic options in the two most common DNA repair deficient cancer syndromes, namely Lynch syndrome (hereditary non-polyposis colorectal cancer) and breast cancer susceptibility gene (BRCA) associated ovarian and breast cancer. Deficiency in DNA repair mechanisms renders these tumors with increased sensitivity to platinum agents. There has been increasing amount of information on the utility of the defects in DNA repair as targets for cancer therapy in these syndromes. Novel therapies like poly (ADP-ribose) polymerase (PARP) inhibitors are one of such example where the induction of double stranded breaks in DNA leads to tumoricidal effect in patients with homologous DNA repair deficiency. Interestingly, patients with DNA repair deficiencies tend to have a more favorable prognosis than sporadic malignancies. In microsatellite high colorectal cancer patients, this has been attributed to increased recruitment of CD8+ T lymphocytes in tumor microenvironment. However, these tumors are able to limit the host immune response by activation of immune checkpoints that seem like attractive targets of therapy in the future. PMID:26873719

  15. Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiency.

    PubMed

    Birrell, G; Lampe, A; Richmond, S; Bruce, S N; Gécz, J; Lower, K; Wright, M; Cheetham, T D

    2003-12-01

    We describe two brothers with Borjeson-Forssman-Lehmann syndrome and the 22A-->T (Lys8X) PHF6 mutation, who presented with the symptoms and signs of multiple pituitary hormone deficiency. Biochemical investigations and radiology confirmed growth hormone (GH), thyroid stimulating hormone (TSH) and adrenocorticotrophic hormone (ACTH) as well as gonadotrophin deficiency. They were also found to have optic nerve hypoplasia. This family suggests that the BFL gene product may play an important role in midline neuro-development including the hypothalamo-pituitary axis. PMID:14714754

  16. Constitutional mismatch repair deficiency syndrome: Do we know it?

    PubMed Central

    Ramachandra, C.; Challa, Vasu Reddy; Shetty, Rachan

    2014-01-01

    Constitutional mismatch repair deficiency syndrome is a rare autosomal recessive syndrome caused by homozygous mutations in mismatch repair genes. This is characterized by the childhood onset of brain tumors, colorectal cancers, cutaneous manifestations of neurofibromatosis-1 like café au lait spots, hematological malignancies, and occasionally other rare malignancies. Here, we would like to present a family in which the sibling had glioblastoma, and the present case had acute lymphoblastic lymphoma and colorectal cancer. We would like to present this case because of its rarity and would add to literature. PMID:25400351

  17. 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

    2015-01-01

    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. PMID:26699285

  18. Update: acquired immunodeficiency syndrome (AIDS)--worldwide.

    PubMed

    1988-05-13

    As of March 21, 1988, 136 countries or territories throughout the world had reported a total of 84,256 cases of AIDS to the Global Programme on AIDS (GPA) (formerly the Special Programme on AIDS) of the World Health Organization (WHO). 37 countries or territories had reported no AIDS cases. Reports are based on either the Centers for Disease Control (CDC)/WHO surveillance definition, the WHO clinical definition, or a physician's diagnosis. From 1979 through March 21, 1988, the number of AIDS cases increased markedly in all geographic regions. The cumulative world total increased from 11,965 in 1984 to 25,150 in 1985 (a 11% increase) and to 48,413 in 1986 (a 92% increase). Because of reporting lags, the global total of AIDS cases reported for 1987 is not yet complete; however, as of March 21, 1988, 34,913 cases had been reported for 1987 (a 72% increase). Data on the distribution of AIDS cases by region are presented, followed by a discussion of the findings. Regions include: Americas, Europe, Africa, Oceania, Asia, and eastern Mediterranean countries. Epidemiologic studies indicate 3 broad yet distinct geographic patterns of transmission. Pattern I is typical of industrialized countries with large numbers of reported AIDS cases, such as North America, Western Europe, Australia, New Zealand, and parts of Latin America. In these areas, most cases occur among homosexual or bisexual males and urban intravenous (IV) drug users. Pattern II is observed in areas of central, eastern, and southern Africa and in some Carribean countries. In these areas, most cases occur among heterosexuals. Pattern III is found in areas of Eastern Europe, the Middle East, Asia, and most of the Pacific. Only small numbers of cases have been reported in these areas. PMID:3129644

  19. Growth hormone deficiency in 18q deletion syndrome

    SciTech Connect

    Ghidoni, P.D.; Cody, J.; Danney, J.

    1994-09-01

    The 18q- syndrome is one of the most common chromosomal deletion syndromes. Clinical characteristics are variable but may include: hypotonia, cleft palate, mental retardation and hearing impairment. Growth failure (GF) (<3% weight/height) is present in 80% of affected individuals. We evaluated growth hormone (GH) sufficiency in 15 patients with 18q- syndrome. Of these 15 patients, 10 have growth failure (<3% weight/height); of the remaining 5, 3 had normal growth parameters and 2 had growth along the 5%. Twelve patients failed to produce adequate GH following standard stimulation testing. Of these 12 patients with inadequate GH production, 2 had normal growth (above 3%). Of the 15, only 1 has normal GH production and normal growth parameters. Bone age was obtained on 1 patient with both GH deficiency and GF, and revealed significant delays. GH levels in response to GH releasing factor were normal in 3 out of 4 patients. MRI studies of GH-deficient patients indicated normal midline structures. Myelination in the few studied GH-deficient patients appeared delayed. The gene for myelin basic protein (MBP) is known to be located on the terminal portion of the long arm of chromosome 18. Neither the gene for GH, GH releasing factor nor GH releasing factor receptor is on chromosome 18. These genes are located on chromosomes 17, chromosome 20 and chromosome 7, respectively. Findings to date suggest that GH deficiency is common in individuals with 18q- syndrome. The etiology of this finding is unknown. We postulate that a gene(s) on chromosome 18q is involved in GH expression.

  20. Exceptional Association Between Klinefelter Syndrome and Growth Hormone Deficiency

    PubMed Central

    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).

  1. AIDS Education for the Workplace.

    ERIC Educational Resources Information Center

    Mello, Jeffrey A.

    1990-01-01

    Sun Life in Wellesley, Massachusetts, has an ongoing education program about acquired immune deficiency syndrome (AIDS) that provides employees with facts and works to change attitudes about the implications of AIDS for the workplace. (SK)

  2. AIDS: Education's New Dilemma.

    ERIC Educational Resources Information Center

    Freeland, D. Kay; Faber, Charles F.

    The acquired immune deficiency syndrome (AIDS) is an incurable, fatal disease that is caused by a virus that eventually destroys the body's immune system. While AIDS is contagious, the risk of contracting AIDS through casual contact is said to be negligible. A review of the court cases involving students with AIDS reveals that the precedent has…

  3. 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…

  4. The many faces of Glut1 deficiency syndrome.

    PubMed

    Tzadok, Michal; Nissenkorn, Andreea; Porper, Keren; Matot, Israel; Marcu, Shai; Anikster, Yair; Menascu, Shay; Bercovich, Dani; Ben Zeev, Bruria

    2014-03-01

    Glucose transporter protein type 1 deficiency syndrome is a metabolic disorder manifesting as cognitive impairment, acquired microcephaly, epilepsy, and/or movement disorder caused by mutations in the SLC2A1 gene. We describe a cohort of isolated and familial cases of glucose transporter protein type 1 deficiency syndrome, emphasizing seizure semiology, electroencephalographic (EEG) features, treatment response and mutation pathogenicity. SLC2A1 mutations were detected in 3 sporadic and 4 familial cases. In addition, mutations were identified in 9 clinically unaffected family members in 2 families. The phenotypic spectrum of glucose transporter protein type 1 deficiency is wider than previously recognized, with considerable intra-familial variation. Diagnosis requires either hypoglycorrachia followed by SLC2A1 sequencing or direct gene sequencing. A ketogenic diet should be the first line of treatment, but more flexible diets, like the Atkins modified diet, can also be followed. Carbonic anhydrase inhibitors, such as acetazolamide or zonisamide, can be effective for seizure control. PMID:23340081

  5. 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

  6. AIDS and CFS/ME: a tale of two syndromes.

    PubMed

    Pinching, Anthony J

    2003-01-01

    Both HIV/AIDS and chronic fatigue syndrome/myalgic encephalomyelitis (CFS/ME) presented major challenges for medicine, science and society. This article explores what could have impeded investigation of--and specifically pharmaceutical engagement with--CFS/ME, in contrast to the impressive achievements seen in HIV/AIDS. It explores the obstruction of mind-body dualism in a historical context, and examines some of the possible obstacles to pharmaceutical enquiry. Nothing of real substance is identified that would justify the lack of investment and interest in solutions for patients with CFS/ME. PMID:12617422

  7. 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. PMID:2596454

  8. Duodenal mucosal T cell subpopulation and bacterial cultures in acquired immune deficiency syndrome.

    PubMed

    Budhraja, M; Levendoglu, H; Kocka, F; Mangkornkanok, M; Sherer, R

    1987-05-01

    Enteric infections, chronic diarrhea frequently with no obvious etiology, and weight loss cause major morbidity and mortality in acquired immune deficiency syndrome (AIDS). Alterations in mucosal immunity may explain the increased incidence of enteric infections, and contamination of the upper small intestine with bacteria may be the cause of weight loss observed in these patients. To test this hypothesis we studied the mucosal T lymphocyte subset in duodenal mucosal biopsies in 14 AIDS and seven control patients. Duodenal fluid was also cultured for aerobic and anaerobic bacteria. There was a significant decrease among leu-3a T cells (helper/inducer) subset in AIDS. The proportion of mucosal T cells reacting with leu-2a (cytotoxic/suppressor) was significantly increased in AIDS patients. These patients also had a significant reversal of the normal mucosal helper/suppressor T cell ratio. There was no change in the number of leu-7 cells (cells mediate natural killer and antibody-dependent cellular cytotoxicity) as compared to controls. All patients with diarrhea and three of five patients without diarrhea had bacteria in their duodenal fluid. Mean number of organisms was 4.5 X 10(4)/ml. Cultures were negative in all control subjects. The results reveal that the abnormalities of T cell subpopulation in the blood of AIDS patients also occur in their duodenal mucosa. This immunological abnormality is associated with the bacterial colonization of upper gastrointestinal tract which may explain the diarrhea and weight loss observed in majority of our patients. The results also indicate that increased incidence of enteric infections in AIDS may be explained on the basis of altered mucosal immunity. PMID:2953237

  9. 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

  10. A neurodystrophic syndrome resembling carbohydrate-deficient glycoprotein syndrome type III.

    PubMed

    Stibler, H; Gylje, H; Uller, A

    1999-04-01

    A 10-month old girl is described with a serum transferrin isoform abnormality of the same kind as in two previously reported girls with carbohydrate-deficient glycoprotein syndrome type III. This patient presented with joint abnormalities and rapidly developing hypsarrhythmia, hypotonia, psychomotor delay and growth retardation. Fingers, toes, nails and local skin were dysmorphic. She had pale optic discs, thoracic syringomyelia and frontal lobe atrophy at three months. The CDT value in serum was greatly elevated. Several carbohydrate-deficient isoforms were found in transferrin (four), alpha1-antitrypsin (three), antithrombin (two) and thyroxine-binding globulin (four). Mutations in the CDGS 1-gene were excluded. The CDGS III glycoprotein abnormality most probably represents a distinct disorder of glycoprotein metabolism, and needs to be considered in unclear hypsarrhythmia with developmental delay. Dysmorphic features may be added to this syndrome. PMID:10401691

  11. AIDS Education Curriculum Guide.

    ERIC Educational Resources Information Center

    Horry County Board of Education, Conway, SC.

    This curriculum guide was developed, based on sound principles of human growth and development, to present the most recently available information on AIDS (Acquired Immune Deficiency Syndrome). The curriculum presents information on the known facts about AIDS and the AIDS virus infection. It also addresses the potential for adolescents and adults…

  12. Children with AIDS.

    ERIC Educational Resources Information Center

    Jessee, Peggy O; And Others

    1993-01-01

    Discusses the prevalence of pediatric Acquired Immune Deficiency Syndrome (AIDS) cases in the United States, the quality of life of children with AIDS, and concerns that parents and the community have about the disease. Suggests some responses for educational institutions and teachers to help confront AIDS and help children with the disease. (MDM)

  13. AIDS, the Schools, and Policy Issues.

    ERIC Educational Resources Information Center

    Price, James H.

    1986-01-01

    This article reviews the discovery of Acquired Immune Deficiency Syndrome (AIDS) and describes the biology of the disease. The problem of AIDS among children is discussed and implications for school policy decisions are cited. (Author/MT)

  14. Passive hyperimmune therapy: a viable treatment option for the patient with acquired immune deficiency syndrome.

    PubMed

    Raven, N C

    1994-01-01

    New drugs and therapies are continually emerging in an effort to delay the progression of human immunodeficiency virus (HIV)-positive status to acquired immune deficiency syndrome (AIDS). One such treatment is passive hyperimmune therapy (PHT), which was first researched and subsequently published in 1988. Passive hyperimmune therapy involves plasmapheresis of an asymptomatic HIV-positive donor with high p24 antibodies, no detectable p24 antigen, and a helper-inducer T-cell count greater than 400. The plasma is then pooled, sterilized, and administered to symptomatic HIV-positive patients as a monthly intravenous infusion in an effort to provide passive immunotherapy. In this article, an overview of PHT is provided, including benefits, adverse reactions, and other similar therapies available, so that the nurse who cares for HIV-positive patients can continue to be a significant source of information to them. PMID:7965365

  15. Nutrition, the gastrointestinal tract and the acquired immune deficiency syndrome. Facts and perspectives.

    PubMed

    Singer, P; Rothkopf, M M; Kvetan, V; Gaare, J; Mello, L; Askanazi, J

    1989-12-01

    Diarrhoea and malnutrition are common findings in patients with the Acquired Immune Deficiency Syndrome (AIDS). In this disease, enteropathy leads to fat and D-xylose malabsorption and chronic non-specific inflammation of the small bowel. Moreover, gastrointestinal infection can induce severe diarrhoea. Depletion in real body cell mass, body fat content, and weight loss have been observed. Nutritional therapy is mandatory when weight loss is 10% or greater. Enteral feeding is not easily achieved. Parenteral feeding including fat as a nonprotein calorie source improves general condition. The use of intravenous fat emulsions has been hypothesized to have several beneficial effects. Fluidisation of human immunodeficiency virus membranes by lipid emulsions through cholesterol extraction could decrease the infectivity of the virus. Long term intravenous nutrition may be more than a treatment for malabsorption and depletion; it may possibly have direct pharmacological effects. PMID:16837303

  16. 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 virus; the…

  17. Association of Turner Syndrome and Growth Hormone Deficiency: A Review.

    PubMed

    Marques, Jorge Sales; Aires, Sónia

    2015-09-01

    Turner syndrome (TS) is an important cause of short stature in girls. Patients with TS most often do not have growth hormone deficiency (GHD). Testing GH secretion is not indicated despite the presence of short stature. In the last 20 years only three cases were reported with this association in Pubmed. We describe a case of an 11 year old girl with short stature and karyotype confirmed TS: 45,X(16)46,X,i(X)(ql0)(13). Because her growth velocity was low (-3 SD), we evaluated the GH response with stimulating tests and the results were under the normal range. These findings were compatible with GHD. It is important to check for GHD in patients with TS whenever the growth velocity is low for age and sex. PMID:26540761

  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. Partial ADAMTS13 deficiency in atypical hemolytic uremic syndrome

    PubMed Central

    Feng, Shuju; Eyler, Stephen J.; Zhang, Yuzhou; Maga, Tara; Nester, Carla M.; Kroll, Michael H.

    2013-01-01

    Complement dysregulation leads to atypical hemolytic uremic syndrome (aHUS), while ADAMTS13 deficiency causes thrombotic thrombocytopenic purpura. We investigated whether genetic variations in the ADAMTS13 gene partially explain the reduced activity known to occur in some patients with aHUS. We measured complement activity and ADAMTS13 function, and completed mutation screening of multiple complement genes and ADAMTS13 in a large cohort of aHUS patients. In over 50% of patients we identified complement gene mutations. Surprisingly, 80% of patients also carried at least 1 nonsynonymous change in ADAMTS13, and in 38% of patients, multiple ADAMTS13 variations were found. Six of the 9 amino acid substitutions in ADAMTS13 were common single nucleotide polymorphisms; however, 3 variants—A747V, V832M, and R1096H— were rare, with minor allele frequencies of 0.0094%, 0.5%, and 0.32%, respectively. Reduced complement and ADAMTS13 activity (<60% of normal activity) were found in over 60% and 50% of patients, respectively. We concluded that partial ADAMTS13 deficiency is a common finding in aHUS patients and that genetic screening and functional tests of ADAMTS13 should be considered in these patients. PMID:23847193

  20. Attitudes towards and Knowledge of AIDS.

    ERIC Educational Resources Information Center

    Edwards, Andrew; Hiday, Virginia Aldige'

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

  1. Prader-Willi Syndrome and Growth Hormone Deficiency

    PubMed Central

    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. PMID:24932597

  2. 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)

  3. 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. PMID:26657515

  4. Androgen Deficiency and Dry Eye Syndrome in the Aging Male

    PubMed Central

    Azcarate, Patrick M.; Venincasa, Vincent D.; Feuer, William; Stanczyk, Frank; Schally, Andrew V.; Galor, Anat

    2014-01-01

    Purpose. To evaluate the relationship between androgen levels and subjective and objective measures of dry eye syndrome (DES). Methods. A total of 263 male patients from the Miami Veterans Affairs Medical Center eye clinic aged ≥50 were recruited for this prospective cross-sectional study. Patients completed Dry Eye Questionnaire 5, underwent tear film evaluation, and had serum androgen levels measured. The correlations between androgen levels, DES composite scores, DES symptoms, and global, lipid, and aqueous tear film parameters were evaluated. Results. Two hundred sixty-three patients with a mean age of 69 (50–95) were examined. There was no linear association between composite DES scores (generated using latent class analysis) and androgen levels. However, eyes with high DES scores (0.95–1.0) had higher levels of sex hormone-binding globulin (P = 0.03) and lower levels of dehydroepiandrosterone sulfate (DHEAS) (P = 0.02), androstenedione (A) (P = 0.02), and androstane-3α,17β-diol glucuronide (P = 0.03) compared to eyes with intermediate (0.05–0.95) or low (0–0.05) scores. There were no strong correlations between tear film measures and androgen levels. Regarding global parameters, a weak inverse correlation was found between corneal staining and A (r = −0.17, P = 0.009). For lipid parameters, a weak correlation existed between tear breakup time (TBUT) and A (r = 0.15, P = 0.02). When considering aqueous and lipid deficiency independently, the association between TBUT and A existed only with aqueous tear deficiency (r = 0.66, P = 0.002). Regarding aqueous parameters, a weak correlation existed between Schirmer test and DHEAS (r = 0.13, P = 0.047) and A (r = 0.21, P = 0.001). Conclusions. There was a weak correlation between higher levels of androstenedione and healthier global, lipid, and aqueous tear film parameters. PMID:24994872

  5. Proceedings of the Joint AADS-AADR Symposium: Dentistry's Response to AIDS.

    ERIC Educational Resources Information Center

    Bader, James D.; And Others

    1989-01-01

    Presentation topics on dentistry's response to Acquired Immune Deficiency Syndrome (AIDS) include: AIDS-related changes in dental education, public programs, and dental practice and the impact of AIDS on dental practice. (MSE)

  6. Rare Presentation of Thiamine Deficiency as Gastrointestinal Syndrome

    PubMed Central

    Lum, Cory

    2014-01-01

    Introduction: Thiamine deficiency is prevalent among nutritionally deficient persons and manifests as Wernicke encephalopathy or beriberi. Rare accounts of a primary syndrome consisting of GI symptoms are described in the literature. Case Report: The following report illustrates the case of a 30-year-old man with intractable nausea and vomiting, leukocytosis, transaminitis, and lactic acidosis that resolved rapidly after thiamine infusion. The patient was admitted with severe epigastric pain, nausea, and vomiting over the previous week and abdominal pain for the previous 2 weeks. Past medical history was significant for a four-year history of intermittent abdominal pain, and no alcohol consumption. The patient was started on IV pantoprazole for peptic ulcer disease or other gastritis. He was given IV ciprofloxacin and metronidazole for possible infection given his leukocytosis. CT and ultrasound were unremarkable. His condition improved briefly on day 5, but he failed to tolerate a clear liquid diet. Lactic acidosis began to increase on day 7, with hydration failing to alleviate the acidosis. An upper endoscopy on day 9 showed a deep duodenal ulcer, and pantoprazole was restarted. AST and ALT rose from day 4, peaking at 98 and 154 on day 11. The patient was switched from pantoprazole to famotidine on day 11 with no improvement in his LFTs. On the 12th day the patient reported numbness and tingling on his chest. He was treated with thiamine. Lactate levels that had risen to 8.7mmol/L dropped to 2.3 within 24 hours, and the leukocytosis, nausea, and vomiting resolved. The patient stated he felt “the best he had felt in weeks” and was discharged on day 13. Abnormal signs, symptoms, and lab values resolved over the following weeks. Blood drawn on day 12 was positive for low thiamine. Discussion: Thiamine deficiency is a rare cause of GI symptoms of nausea, vomiting, abdominal pain, and lactic acidosis. An under-diagnosed condition, failure to recognize and treat it

  7. Pulmonary Pathology in Thyroid Transcription Factor-1 Deficiency Syndrome

    PubMed Central

    Galambos, Csaba; Levy, Hara; Cannon, Carolyn L.; Vargas, Sara O.; Reid, Lynne M.; Cleveland, Robert; Lindeman, Robert; deMello, Daphne E.; Wert, Susan E.; Whitsett, Jeffrey A.; Perez-Atayde, Antonio R.; Kozakewich, Harry

    2010-01-01

    Thyroid transcription factor-1 (TTF-1) deficiency syndrome is characterized by neurologic, thyroidal, and pulmonary dysfunction. Children usually have mild-to-severe respiratory symptoms and occasionally die of respiratory failure. Herein, we describe an infant with a constitutional 14q12–21.3 haploid deletion encompassing the TTF-1 gene locus who had cerebral dysgenesis, thyroidal dysfunction, and respiratory insufficiency. The clinical course was notable for mild hyaline membrane disease, continuous ventilatory support, and symmetrically distributed pulmonary cysts by imaging. He developed pneumonia and respiratory failure and died at 8 months. Pathologically, the lungs had grossly visible emphysematous changes with “cysts” up to 2 mm in diameter. The airway generations and radial alveolar count were diminished. In addition to acute bacterial pneumonia, there was focally alveolar septal fibrosis, pneumocyte hypertrophy, and clusters of airspace macrophages. Ultrastructurally, type II pneumocytes had numerous lamellar bodies, and alveolar spaces contained fragments of type II pneumocytes and extruded lamellar bodies. Although immunoreactivity for surfactant protein SP-A and ABCA3 was diminished, that for SP-B and proSP-C was robust, although irregularly distributed, corresponding to the distribution of type II pneumocytes. Immunoreactivity for TTF-1 protein was readily detected. In summation, we document abnormal airway and alveolar morphogenesis and altered expression of surfactant-associated proteins, which may explain the respiratory difficulties encountered in TTF-1 haploinsufficiency. These findings are consistent with experimental evidence documenting the important role of TTF-1 in pulmonary morphogenesis and surfactant metabolism. PMID:20203240

  8. Cernunnos/XLF Deficiency: A Syndromic Primary Immunodeficiency.

    PubMed

    Cipe, Funda Erol; Aydogmus, Cigdem; Babayigit Hocaoglu, Arzu; Kilic, Merve; Kaya, Gul Demet; Yilmaz Gulec, Elif

    2014-01-01

    Artemis, DNA ligase IV, DNA protein kinase catalytic subunit, and Cernunnos/XLF genes in nonhomologous end joining pathways of DNA repair mechanisms have been identified as responsible for radiosensitive SCID. Here, we present a 3-year-old girl patient with severe growth retardation, bird-like face, recurrent perianal abscess, pancytopenia, and polydactyly. Firstly, she was thought as Fanconi anemia and spontaneous DNA breaks were seen on chromosomal analysis. After that DEB test was found to be normal and Fanconi anemia was excluded. Because of that she had low IgG and IgA levels, normal IgM level, and absence of B cells in peripheral blood; she was considered as primary immunodeficiency, Nijmegen breakage syndrome. A mutation in NBS1 gene was not found; then Cernunnos/XLF deficiency was investigated due to clinical similarities with previously reported cases. Homozygous mutation in Cernunnos/XLF gene (NHEJ1) was identified. She is now on regular IVIG prophylaxis and has no new infection. Fully matched donor screening is in progress for bone marrow transplantation which is curative treatment of the disease. In conclusion, the patients with microcephaly, bird-like face, and severe growth retardation should be evaluated for hypogammaglobulinemia and primary immunodeficiency diseases. PMID:24511403

  9. Cernunnos/XLF Deficiency: A Syndromic Primary Immunodeficiency

    PubMed Central

    Çipe, Funda Erol; Aydogmus, Cigdem; Babayigit Hocaoglu, Arzu; Kilic, Merve; Kaya, Gul Demet; Yilmaz Gulec, Elif

    2014-01-01

    Artemis, DNA ligase IV, DNA protein kinase catalytic subunit, and Cernunnos/XLF genes in nonhomologous end joining pathways of DNA repair mechanisms have been identified as responsible for radiosensitive SCID. Here, we present a 3-year-old girl patient with severe growth retardation, bird-like face, recurrent perianal abscess, pancytopenia, and polydactyly. Firstly, she was thought as Fanconi anemia and spontaneous DNA breaks were seen on chromosomal analysis. After that DEB test was found to be normal and Fanconi anemia was excluded. Because of that she had low IgG and IgA levels, normal IgM level, and absence of B cells in peripheral blood; she was considered as primary immunodeficiency, Nijmegen breakage syndrome. A mutation in NBS1 gene was not found; then Cernunnos/XLF deficiency was investigated due to clinical similarities with previously reported cases. Homozygous mutation in Cernunnos/XLF gene (NHEJ1) was identified. She is now on regular IVIG prophylaxis and has no new infection. Fully matched donor screening is in progress for bone marrow transplantation which is curative treatment of the disease. In conclusion, the patients with microcephaly, bird-like face, and severe growth retardation should be evaluated for hypogammaglobulinemia and primary immunodeficiency diseases. PMID:24511403

  10. A lactogenic-immune-deficiency-syndrome in cows: unexplained phenomenon.

    PubMed

    Brenner, J; Neria, A; Askenazy, G; Paz, R; Meirom, R; Ungar-Waron, H; Trainin, Z

    1992-05-01

    The majority of adult cows in a certain dairy herd, were found to have very low levels of immunoglobulins (Igs) in their colostrum. This phenomenon was defined by us as Lactogenic-Immune-Deficiency-Syndrome (LIDS). The mean IgG levels were 44.5 and 57.2 mg ml-1 respectively (on two different occasions) as compared to that of a control group which was 103.4 mg ml-1. The levels of Igs in the colostra of heifers from the same herd were found to be higher than those of adult cows. The degree of LIDS was found to be closely related to the age of cows in the herd. The low levels of Igs in the colostra were not directly linked to their concentrations in the sera of the affected cows. The relatively low amount of IgA in the affected colostra suggests that the local production in the lymph tissue associated with the mammary glands is impaired as well. In order to investigate the etiology of the phenomenon, tests were carried out to reveal whether bovine leucosis virus (BLV) infection or immune complexes were involved in the pathogenesis of LIDS. The results were negative. The etiology of LIDS remains for the time being unknown. PMID:1632067

  11. Glucose transporter 1 deficiency syndrome and hemiplegic migraines as a dominant presenting clinical feature.

    PubMed

    Mohammad, Shekeeb S; Coman, David; Calvert, Sophie

    2014-12-01

    Glucose transporter 1 deficiency syndrome (OMIM 606777) is a treatable epileptic encephalopathy caused by mutations in the SLC2A1 gene (OMIM 138140) causing impaired glucose transport into the brain. The classical phenotype is associated with seizures, developmental delay, ataxia and spasticity; however, milder phenotypes are emerging. We describe an 8-year-old boy with glucose transporter 1 deficiency syndrome whose clinical presentation was dominated by hemiplegic migraines that resolved with institution of a modified Atkins diet. PMID:25440161

  12. HIV/AIDS and Pediatric AIDS. The Arc Q & A.

    ERIC Educational Resources Information Center

    Kowalski, Jo Anne T.

    This fact sheet uses a question-and-answer format to summarize what is known about HIV/AIDS (Human Immunodeficiency Virus and Acquired Immune Deficiency Syndrome) and pediatric AIDS and applies this information to children in school settings. Questions and answers address the following topics: what the AIDS disease and HIV infection are; estimates…

  13. Primary stomal lymphoma. An unusual complication of ileostomy in a patient with transfusion-related acquired immune deficiency syndrome.

    PubMed

    Levecq, H; Hautefeuille, M; Hoang, C; Galian, A; Hautefeuille, P; Rambaud, J C

    1990-02-15

    A 73-year-old heterosexual man developed a high-grade non-Hodgkin's lymphoma at the site of an ileostomy only 2 years after proctectomy for undetermined colitis not cured by previous colectomy. In fact, the early occurrence of this usually very late and rare complication of ileostomy was probably favored by the simultaneous presence of acquired immune deficiency syndrome (AIDS) due to repeated blood transfusions for refractory anemia with excess blasts. The intestinal location of the tumor, its high-grade malignancy and B-cell origin are all features of AIDS-related non-Hodgkin's lymphoma. This case report seems to be one of the rarely identified examples of the cooperation between general predisposing factors and local irritating agents at the origin of a malignant tumor. PMID:2297651

  14. Wernicke's Encephalopathy: An Unusual Consequence of the Acquired Immune Deficiency Syndrome-Case Report and Literature Review.

    PubMed

    Larsen, Timothy R; Dragu, Dritan; Williams, Michael

    2013-01-01

    Introduction. Wernicke's encephalopathy is a well-described syndrome characterized by the classic triad of confusion, ataxia, and ophthalmoplegia. Wernicke's encephalopathy results from thiamine (vitamin B1) deficiency. Common causes include alcoholism and gastric disorders. Wernicke's has been described in patients with acquired immune deficiency syndrome (AIDS); however, given these patients' immunosuppressed state, the diagnosis of Wernicke's encephalopathy is not apparent. Case Presentation. A 31-year-old previously healthy male presented to the ER complaining of progressive dyspnea. Workup revealed HIV/AIDS and PCP pneumonia. He was treated and improved. On day 14 he became confused and developed nystagmus and ataxia. Considering his immunocompromised state, infectious and neoplastic etiologies topped the differential diagnosis. CT head was negative. Lumbar puncture was unremarkable. Brain MRI revealed increased T2 signal in the medial thalamus bilaterally. Intravenous thiamine was administered resulting in resolution of symptoms. Discussion. The classic triad of Wernicke's encephalopathy occurs in 10% of cases. When immunosuppressed patients develop acute neurologic symptoms infectious or neoplastic etiologies must be excluded. However, given the relative safety of thiamine supplementation, there should be a low threshold for initiating therapy in order to reverse the symptoms and prevent progression to Korsakoff dementia, which is permanent. PMID:23935638

  15. 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…

  16. AIDS Awareness in Industrial Education.

    ERIC Educational Resources Information Center

    Lundy, Lyndall L.

    1994-01-01

    Survey responses from 88 of 293 industrial technology education department heads found that 68% could not identify courses in which acquired immune deficiency syndrome (AIDS) is covered; 52% were not aware of AIDS-related activities on their campuses; and 48% had AIDS education programs at their institutions. (SK)

  17. 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)

  18. 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)

  19. 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…

  20. Proximal femoral focal deficiency as a manifestation of Antley-Bixler syndrome: a case report.

    PubMed

    Sulaiman, A R; Nawaz, H; Munajat, I; Sallehudin, A Y

    2007-04-01

    We report a case of the Antley-Bixler syndrome in an 11-year-old girl. She presented with bilateral proximal femoral focal deficiency, right clubfoot, left radiohumeral synostosis, bilateral ear hypoplasia, cleft palate, tongue tie, missing teeth, congenital heart disease, a pelvic kidney with hydronephrosis, and mental retardation. Proximal femoral focal deficiency has never been reported before as a manifestation of Antley-Bixler syndrome. Her mother was exposed to radiation during an intravenous urogram done in the first trimester of pregnancy. Exposure to radiation has not been implicated as a cause of Antley-Bixler syndrome. PMID:17429125

  1. 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].

  2. A New AIDS Agenda.

    ERIC Educational Resources Information Center

    Popham, W. James

    1993-01-01

    Thousands of young people are affected with the Human Immunodeficiency Virus (HIV) that causes the Acquired Immune Deficiency Syndrome (AIDS). An effective AIDS education program must address functional knowledge, relevant skills, and motivation. The program must be comprehensive and taught by trained teachers. Lists a source of an annotated…

  3. What about AIDS?

    ERIC Educational Resources Information Center

    Dreyfuss, Katharine R.

    1987-01-01

    Discusses the nature of Acquired Immune Deficiency Syndrome (AIDS). Suggests ways in which camp directors can establish procedures for making appropriate decisions about accepting campers/staff workers with AIDS. Reviews aspects of environmental sanitation, physical health, confidentiality, camper/staff drug use and sexual behavior, medical…

  4. AIDS Fact Pack.

    ERIC Educational Resources Information Center

    Center for Population Options, Washington, DC.

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

  5. 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…

  6. 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)

  7. AIDS: Children Too.

    ERIC Educational Resources Information Center

    Lejeune, Genevieve, Ed.

    1994-01-01

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

  8. 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…

  9. 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"…

  10. [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'. PMID:24475714

  11. 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. PMID:2364555

  12. 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

  13. 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. PMID:21210240

  14. Evans Syndrome Secondary to Common Variable Immune Deficiency.

    PubMed

    Antoon, James W; Metropulos, Diana; Joyner, Benny L

    2016-04-01

    Evans syndrome is an underdiagnosed condition consisting of simultaneous or sequential combination of autoimmune hemolytic anemia and immune-mediated thrombocytopenia. We report a case of severe Evans syndrome presenting as altered mental status, a rare presenting sign of the disease. This case highlights the difficulty in diagnosing Evans syndrome and provides a review of the literature and management strategies for treating the disorder. PMID:26950085

  15. 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).

  16. 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…

  17. Fire-Heat and Qi Deficiency Syndromes as Predictors of Short-term Prognosis of Acute Ischemic Stroke

    PubMed Central

    Cheng, Shu-Chen; Lin, Chien-Hsiung; Chang, Yeu-Jhy; Lee, Tsong-Hai; Ryu, Shan-Jin; Chen, Chun-Hsien; Chang, Her-Kun; Chang, Chee-Jen

    2013-01-01

    Abstract Objectives To explore the relationships between traditional Chinese medicine (TCM) syndromes and disease severity and prognoses after ischemic stroke, such as neurologic deficits and decline in activities of daily living (ADLs). Methods The study included 211 patients who met the inclusion criteria of acute ischemic stroke based on clinical manifestations, computed tomography or magnetic resonance imaging findings, and onset of ischemic stroke within 72 hours with clear consciousness. To assess neurologic function and ADLs in patients with different TCM syndromes, the TCM Syndrome Differentiation Diagnostic Criteria for Apoplexy scale (containing assessments of wind, phlegm, blood stasis, fire-heat, qi deficiency, and yin deficiency with yang hyperactivity syndromes) was used within 72 hours of stroke onset, and Western medicine–based National Institutes of Health Stroke Scale (NIHSS) and Barthel Index (BI) assessments were performed at both admission and discharge. Results The most frequent TCM syndromes associated with acute ischemic stroke were wind syndrome, phlegm syndrome, and blood stasis syndrome. Improvement according to the BI at discharge and days of admission were significantly different between patients with and those without fire-heat syndrome. Patients with qi deficiency syndrome had longer hospital stays and worse NIHSS and BI assessments at discharge than patients without qi deficiency syndrome. All the reported differences reached statistical significance. Conclusions These results provide evidence that fire-heat syndrome and qi deficiency syndrome are essential elements that can predict short-term prognosis of acute ischemic stroke. PMID:23600945

  18. 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. PMID:23202608

  19. The D2 dopamine receptor gene as a determinant of reward deficiency syndrome.

    PubMed Central

    Blum, K; Sheridan, P J; Wood, R C; Braverman, E R; Chen, T J; Cull, J G; Comings, D E

    1996-01-01

    The dopaminergic system, and in particular the dopamine D2 receptor, has been profoundly implicated in reward mechanisms in the brain. Dysfunction of the D2 dopamine receptors leads to aberrant substance seeking behaviour (alcohol, drug, tobacco, and food) and other related behaviours (pathological gambling, Tourette's syndrome, and attention deficit hyperactivity disorder). We propose that variants of the D2 dopamine receptor gene are important common genetic determinants of the 'reward deficiency syndrome'. PMID:8774539

  20. Facial morphometry of Ecuadorian patients with growth hormone receptor deficiency/Laron syndrome.

    PubMed Central

    Schaefer, G B; Rosenbloom, A L; Guevara-Aguirre, J; Campbell, E A; Ullrich, F; Patil, K; Frias, J L

    1994-01-01

    Facial morphometry using computerised image analysis was performed on patients with growth hormone receptor deficiency (Laron syndrome) from an inbred population of southern Ecuador. Morphometrics were compared for 49 patients, 70 unaffected relatives, and 14 unrelated persons. Patients with growth hormone receptor deficiency showed significant decreases in measures of vertical facial growth as compared to unaffected relatives and unrelated persons with short stature from other causes. This report validates and quantifies the clinical impression of foreshortened facies in growth hormone receptor deficiency. Images PMID:7815422

  1. Delayed Adrenarche may be an Additional Feature of Immunoglobulin Super Family Member 1 Deficiency Syndrome.

    PubMed

    Hulle, Severine Van; Craen, Margarita; Callewaert, Bert; Joustra, Sjoerd; Oostdijk, Wilma; Losekoot, Monique; Wit, Jan Maarten; Turgeon, Marc Olivier; Bernard, Daniel J; Schepper, Jean De

    2016-03-01

    Immunoglobulin super family member 1 (IGSF1) deficiency syndrome is characterized by central hypothyroidism, delayed surge in testosterone during puberty, macro-orchidism, and in some cases, hypoprolactinemia and/or transient growth hormone (GH) deficiency. Our patient was a 19-year-old male adolescent who had been treated since the age of 9 years with GH and thyroxine for an idiopathic combined GH, thyroid-stimulating hormone (TSH), and prolactin (PRL) deficiency. His GH deficiency proved to be transient, but deficiencies of TSH and PRL persisted, and he had developed macro-orchidism since the end of puberty. Brain magnetic resonance imaging and PROP1 and POU1F1 sequencing were normal. A disharmonious puberty (delayed genital and pubic hair development, bone maturation, and pubertal growth spurt, despite normal testicular growth) was observed as well as a delayed adrenarche, as reflected by very low dehydroepiandrosterone sulfate and delayed pubarche. Direct sequencing of the IGSF1 gene revealed a novel hemizygous mutation, c.3127T>C, p.Cys1043Arg. Pathogenicity of the mutation was demonstrated in vitro. Male children with an idiopathic combined GH, PRL, and TSH deficiency, showing persistent central hypothyroidism but transient GH deficiency upon retesting at adult height, should be screened for mutations in the IGSF1 gene, especially when macro-orchidism and/or hypoprolactinemia are present. We suspect that delayed adrenarche, as a consequence of PRL deficiency, might be part of the clinical phenotype of patients with IGSF1 deficiency. PMID:26757742

  2. Delayed Adrenarche may be an Additional Feature of Immunoglobulin Super Family Member 1 Deficiency Syndrome

    PubMed Central

    Hulle, Severine Van; Craen, Margarita; Callewaert, Bert; Joustra, Sjoerd; Oostdijk, Wilma; Losekoot, Monique; Wit, Jan Maarten; Turgeon, Marc Olivier; Bernard, Daniel J.; Schepper, Jean De

    2016-01-01

    Immunoglobulin super family member 1 (IGSF1) deficiency syndrome is characterized by central hypothyroidism, delayed surge in testosterone during puberty, macro-orchidism, and in some cases, hypoprolactinemia and/or transient growth hormone (GH) deficiency. Our patient was a 19-year-old male adolescent who had been treated since the age of 9 years with GH and thyroxine for an idiopathic combined GH, thyroid-stimulating hormone (TSH), and prolactin (PRL) deficiency. His GH deficiency proved to be transient, but deficiencies of TSH and PRL persisted, and he had developed macro-orchidism since the end of puberty. Brain magnetic resonance imaging and PROP1 and POU1F1 sequencing were normal. A disharmonious puberty (delayed genital and pubic hair development, bone maturation, and pubertal growth spurt, despite normal testicular growth) was observed as well as a delayed adrenarche, as reflected by very low dehydroepiandrosterone sulfate and delayed pubarche. Direct sequencing of the IGSF1 gene revealed a novel hemizygous mutation, c.3127T>C, p.Cys1043Arg. Pathogenicity of the mutation was demonstrated in vitro. Male children with an idiopathic combined GH, PRL, and TSH deficiency, showing persistent central hypothyroidism but transient GH deficiency upon retesting at adult height, should be screened for mutations in the IGSF1 gene, especially when macro-orchidism and/or hypoprolactinemia are present. We suspect that delayed adrenarche, as a consequence of PRL deficiency, might be part of the clinical phenotype of patients with IGSF1 deficiency. PMID:26757742

  3. Hypogammaglobulinemia factitia- Munchausen syndrome masquerading as common variable immune deficiency

    PubMed Central

    2013-01-01

    Background We describe the first case of a patient with factitious disorder who closely simulated a primary immune deficiency disorder – Common Variable Immune Deficiency (CVID), by surreptitiously ingesting non-steroidal anti-inflammatory agents. Case description He was treated with several expensive and potentially dangerous drugs before the diagnosis was established through collateral information. In retrospect he did not meet the proposed new criteria for CVID. These criteria may prove useful in distinguishing cases of CVID from secondary hypogammaglobulinemia. Conclusion It is imperative clinicians recognise patients with factitious disorder at the earliest opportunity to prevent iatrogenic morbidity and mortality. PMID:24341706

  4. 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

  5. Neuroimaging evidence of deficient axon myelination in Wolfram syndrome.

    PubMed

    Lugar, Heather M; Koller, Jonathan M; Rutlin, Jerrel; Marshall, Bess A; Kanekura, Kohsuke; Urano, Fumihiko; Bischoff, Allison N; Shimony, Joshua S; Hershey, Tamara

    2016-01-01

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

  6. Evaluation of abdominal pain in the AIDS patient.

    PubMed Central

    Potter, D A; Danforth, D N; Macher, A M; Longo, D L; Stewart, L; Masur, H

    1984-01-01

    Acquired immune deficiency syndrome (AIDS) is a recently recognized entity characterized by a deficiency in cell mediated immune response. The syndrome is manifested by the development of otherwise rare malignant neoplasms and severe life-threatening opportunistic infections. Case histories of five AIDS patients evaluated for abdominal pain are presented to demonstrate the unusual spectrum of intra-abdominal pathology that may be encountered in the AIDS patient. As the number of patients with AIDS continues to escalate, surgical evaluation and intervention will be required more frequently. An understanding of this syndrome and its complications is mandatory for the surgeon to adequately evaluate AIDS patients with abdominal pain. PMID:6322708

  7. 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. PMID:25711864

  8. 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…

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

    Technology Transfer Automated Retrieval System (TEKTRAN)

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

  10. 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…

  11. Multiple endocrinopathies (growth hormone deficiency, autoimmune hypothyroidism and diabetes mellitus) in Kearns-Sayre syndrome.

    PubMed

    Berio, A; Piazzi, A

    2013-01-01

    Kearns-Sayre syndrome is characterized by onset before 20 years, chronic progressive external opthalmoplegia, pigmentary retinal degeneration, and ataxia (and/or hearth block, and/or high protein content in the cerebrospinal fluid) in the presence of mtDNA rearrangements. Multiple endocrine dysfunction associated with this syndrome was rarely reported. In this paper, the Authors report on a female patient with Kearns-Sayre syndrome with large heteroplasmic mtDNA deletion, absence of cytochrome c oxidase in many muscle fibers, partial GH deficiency, hypothyroidism and subsequently insulin dependent diabetes mellitus (IDDM). Anti-thyroid peroxidase and antithyreoglobulin antibodies were present in high titer in serum while anti-islet cell antibodies were absent. The patient developed thyroiditis with Hashimoto encephalopathy. The presence of GH deficiency, autoimmune thyroiditis with hypothyroidism and IDDM distinguishes this case from others and confirms the association of Kearns-Sayre syndrome with multiple endocrine dysfunction. Hashimoto encephalopathy and anti-thyroideal antibodies suggest that in this patient, predisposed by a genetic factor (a mitochondrial deletion) anti-thyroideal antibodies may have contributed to the hypothyroidism and, by interfering with cerebral mitochondrial function, may have caused the encephalopathy. GH deficiency and IDDM can be attributed to oxidative phosphorylation deficiency but the autoimmunity may also have played a role in the production of glandular insufficiencies. It seems important to search for endocrine autoimmunity in every case of KSS. PMID:23947115

  12. Mycobacterium simiae and Mycobacterium avium-M. intracellulare mixed infection in acquired immune deficiency syndrome.

    PubMed Central

    Lévy-Frébault, V; Pangon, B; Buré, A; Katlama, C; Marche, C; David, H L

    1987-01-01

    Acquired immune deficiency syndrome was diagnosed in a 43-year-old man, born and living in Congo. The patient presented a disseminated infection caused by mycobacteria which were recovered from blood, jejunal fluid, and duodenal and rectal biopsies. Identification, according to conventional tests and mycolate profile determination, showed that Mycobacterium avium-M. intracellulare and M. simiae were both involved. Images PMID:3793869

  13. Dapsone hypersensitivity syndrome not related to G6PD deficiency.

    PubMed

    Schulkes, Karlijn J G; Tervaert, J W Cohen; Rijken, Feiko; Haas, Lenneke E M

    2015-01-01

    Dapsone hypersensitivity syndrome (DHS) is a rare, but potentially life-threatening reaction to dapsone. We describe a 55-year-old Caucasian woman with normal glucose-6-phosphate dehydrogenase levels presenting with an extensive skin eruption, high-grade fever, pneumonitis and hepatitis, which occurred within 3 weeks after initiation of dapsone. In addition to supportive care, the patient was successfully treated with high-dose corticosteroids and antibiotics. The combination of high-grade fever, skin rash, lung and liver involvement made a dapsone hypersensitivity syndrome very likely. PMID:26682839

  14. 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. PMID:24682771

  15. 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…

  16. Superintendents' Views on AIDS: A National Survey.

    ERIC Educational Resources Information Center

    Keough, Katherine E.; Seaton, George

    1988-01-01

    Presents results from a survey of selected school superintendents about how to deal with the disease Acquired Immune Deficiency Syndrome (AIDS) in the schools. They are in agreement that AIDS education should be part of the regular school curriculum. There is no general agreement on how schools should deal with other aspects of the AIDS disease.…

  17. Risk Communication about AIDS in Higher Education.

    ERIC Educational Resources Information Center

    Keeling, Richard P.

    1987-01-01

    Discusses the importance of education as the primary response of higher education to the epidemic associated with acquired immune deficiency syndrome (AIDS). Focuses on the personal, social and institutional issues that bear on AIDS education on college campuses and the important features of AIDS education programs. (TW)

  18. Educating Students about HIV/AIDS.

    ERIC Educational Resources Information Center

    Gorman, Phyllis

    1989-01-01

    Maintains that the Acquired Immune Deficiency Syndrome (AIDS) issue presents two opportunities for feminist educators: providing basic information on AIDS and Human Immunodeficiency Virus (HIV), and analyzing societal responses to AIDS in terms of a feminist perspective. Provides three classroom exercises designed to explore student attitudes…

  19. Counseling Persons with a Fear of AIDS.

    ERIC Educational Resources Information Center

    Bruhn, John G.

    1989-01-01

    Discusses the increasing incidence of Acquired Immune Deficiency Syndrome (AIDS) which has created a societal fear of AIDS that, in turn, has raised the level of fear and anxiety in individuals prone to fear responses. Discusses fear accentuated by AIDS and guidelines for counseling people exhibiting this fear. (Author/ABL)

  20. Providing Empowerment to the Person with AIDS.

    ERIC Educational Resources Information Center

    Haney, Patrick

    1988-01-01

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

  1. Unusual phenotype of glucose transport protein type 1 deficiency syndrome: A case report and literature review

    PubMed Central

    Posar, Annio; Santucci, Margherita

    2014-01-01

    The glucose transport protein type 1 (GLUT1) deficit causes a chronic brain energy failure. The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; movement disorders (ataxia, dystonia, spasticity); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches). During last years the classic phenotype of this syndrome, as originally reported, has expanded. We report the atypical phenotype of a boy with GLUT1 deficiency syndrome, characterized by mild mental retardation and drug-resistant absence seizures with onset at the age of 6 years, without movement disorders nor decrease of head circumference. A prompt diagnosis of this disorder is mandatory since the ketogenic diet might represent an effective treatment. PMID:24891901

  2. Unusual phenotype of glucose transport protein type 1 deficiency syndrome: A case report and literature review.

    PubMed

    Posar, Annio; Santucci, Margherita

    2014-01-01

    The glucose transport protein type 1 (GLUT1) deficit causes a chronic brain energy failure. The classic phenotype of GLUT1 deficiency syndrome is characterized by: Mild to severe motor delay and mental retardation; infantile-onset epilepsy; head growth deceleration; movement disorders (ataxia, dystonia, spasticity); and non-epileptic paroxysmal events (intermittent ataxia, periodic confusion, recurrent headaches). During last years the classic phenotype of this syndrome, as originally reported, has expanded. We report the atypical phenotype of a boy with GLUT1 deficiency syndrome, characterized by mild mental retardation and drug-resistant absence seizures with onset at the age of 6 years, without movement disorders nor decrease of head circumference. A prompt diagnosis of this disorder is mandatory since the ketogenic diet might represent an effective treatment. PMID:24891901

  3. [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. PMID:23916982

  4. Counseling Roles and AIDS. Highlights: An ERIC/CAPS Digest.

    ERIC Educational Resources Information Center

    Wilson, Thomas C.

    This fact sheet considers the counselor's role in dealing with Acquired Immune Deficiency Syndrome (AIDS). Three counselor roles are examined: (1) direct counseling for those affected by AIDS; (2) coordination of support systems for victims of AIDS; and (3) education. Seven recommendations for health professionals dealing with AIDS patients are…

  5. 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

    2016-05-01

    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. PMID:26928832

  6. 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…

  7. Cardiac-specific succinate dehydrogenase deficiency in Barth syndrome.

    PubMed

    Dudek, Jan; Cheng, I-Fen; Chowdhury, Arpita; Wozny, Katharina; Balleininger, Martina; Reinhold, Robert; Grunau, Silke; Callegari, Sylvie; Toischer, Karl; Wanders, Ronald Ja; Hasenfuß, Gerd; Brügger, Britta; Guan, Kaomei; Rehling, Peter

    2015-01-01

    Barth syndrome (BTHS) is a cardiomyopathy caused by the loss of tafazzin, a mitochondrial acyltransferase involved in the maturation of the glycerophospholipid cardiolipin. It has remained enigmatic as to why a systemic loss of cardiolipin leads to cardiomyopathy. Using a genetic ablation of tafazzin function in the BTHS mouse model, we identified severe structural changes in respiratory chain supercomplexes at a pre-onset stage of the disease. This reorganization of supercomplexes was specific to cardiac tissue and could be recapitulated in cardiomyocytes derived from BTHS patients. Moreover, our analyses demonstrate a cardiac-specific loss of succinate dehydrogenase (SDH), an enzyme linking the respiratory chain with the tricarboxylic acid cycle. As a similar defect of SDH is apparent in patient cell-derived cardiomyocytes, we conclude that these defects represent a molecular basis for the cardiac pathology in Barth syndrome. PMID:26697888

  8. 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…

  9. Development of cryptococcal immune reconstitution inflammatory syndrome 41 months after the initiation of antiretroviral therapy in an AIDS patient.

    PubMed

    Hashimoto, Hideki; Hatakeyama, Shuji; Yotsuyanagi, Hiroshi

    2015-01-01

    Cryptococcal meningitis is one of the most lethal fungal infections in patients with acquired immune deficiency syndrome (AIDS). The incidence of and mortality from cryptococcal meningitis have markedly decreased since the introduction of combination antiretroviral therapy (cART). However, despite its benefits, the initiation of cART results in immune reconstitution inflammatory syndrome (IRIS) in some patients. Although IRIS is occasionally difficult to distinguish from relapse or treatment failure, the distinction is important because IRIS requires a different treatment. Here, we present the case of a patient with AIDS who developed symptoms of cryptococcal IRIS 41 months after starting cART. To the best of our knowledge, the time between cART initiation and the onset of cryptococcal IRIS in this patient is the longest that has been reported in the literature. PMID:26425133

  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. PMID:23888468

  11. Experimental oral polio vaccines and acquired immune deficiency syndrome.

    PubMed

    Hooper, E

    2001-06-29

    The simian immunodeficiency virus (SIV) of the common chimpanzee is widely acknowledged as the direct ancestor of HIV-1. There is increasing historical evidence that during the late 1950s, kidneys were routinely excised from central African chimpanzees by scientists who were collaborating with the polio vaccine research of Dr Hilary Koprowski, and sent - inter alia - to vaccine-making laboratories in the USA and Africa, and to unspecified destinations in Belgium. While there is no direct evidence that cells from these kidneys were used as a substrate for growing Dr Koprowski's oral polio vaccines, there is a startling coincidence between places in Africa where his CHAT vaccine was fed, and the first appearances in the world of HIV-1 group M and group-M-related AIDS. Because of the enormous implications of the hypothesis that AIDS may be an unintended iatrogenic (physician-caused) disease, it is almost inevitable that this theory will engender heated opposition from many of those in the scientific establishment, and those with vested interests. PMID:11405924

  12. The Deficiency of PIP2 5-Phosphatase in Lowe Syndrome Affects Actin Polymerization

    PubMed Central

    Suchy, Sharon F.; Nussbaum, Robert L.

    2002-01-01

    Lowe syndrome is a rare X-linked disorder characterized by bilateral congenital cataracts, renal Fanconi syndrome, and mental retardation. Lowe syndrome results from mutations in the OCRL1 gene, which encodes a phosphatidylinositol 4,5 bisphosphate 5-phosphatase located in the trans-Golgi network. As a first step in identifying the link between ocrl1 deficiency and the clinical disorder, we have identified a reproducible cellular abnormality of the actin cytoskeleton in fibroblasts from patients with Lowe syndrome. The cellular abnormality is characterized by a decrease in long actin stress fibers, enhanced sensitivity to actin depolymerizing agents, and an increase in punctate F-actin staining in a distinctly anomalous distribution in the center of the cell. We also demonstrate an abnormal distribution of two actin-binding proteins, gelsolin and α-actinin, proteins regulated by both PIP2 and Ca+2 that would be expected to be altered in Lowe cells. Actin polymerization plays a key role in the formation, maintenance, and proper function of tight junctions and adherens junctions, which have been demonstrated to be critical in renal proximal tubule function, and in the differentiation of the lens. These findings point to a general mechanism to explain how this PIP2 5-phosphatase deficiency might produce the Lowe syndrome phenotype. PMID:12428211

  13. Fumarate Hydratase-deficient Uterine Leiomyomas Occur in Both the Syndromic and Sporadic Settings.

    PubMed

    Harrison, Wesley J; Andrici, Juliana; Maclean, Fiona; Madadi-Ghahan, Raha; Farzin, Mahtab; Sioson, Loretta; Toon, Christopher W; Clarkson, Adele; Watson, Nicole; Pickett, Justine; Field, Michael; Crook, Ashley; Tucker, Katherine; Goodwin, Annabel; Anderson, Lyndal; Srinivasan, Bhuvana; Grossmann, Petr; Martinek, Petr; Ondič, Ondrej; Hes, Ondřej; Trpkov, Kiril; Clifton-Bligh, Roderick J; Dwight, Trisha; Gill, Anthony J

    2016-05-01

    Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome secondary to germline fumarate hydratase (FH) mutation presents with cutaneous and uterine leiomyomas, and a distinctive aggressive renal carcinoma. Identification of HLRCC patients presenting first with uterine leiomyomas may allow early intervention for renal carcinoma. We reviewed the morphology and immunohistochemical (IHC) findings in patients with uterine leiomyomas and confirmed or presumed HLRCC. IHC was also performed on a tissue microarray of unselected uterine leiomyomas and leiomyosarcomas. FH-deficient leiomyomas underwent Sanger and massively parallel sequencing on formalin-fixed paraffin-embedded tissue. All 5 patients with HLRCC had at least 1 FH-deficient leiomyoma: defined as completely negative FH staining with positive internal controls. One percent (12/1152) of unselected uterine leiomyomas but 0 of 88 leiomyosarcomas were FH deficient. FH-deficient leiomyoma patients were younger (42.7 vs. 48.8 y, P=0.024) and commonly demonstrated a distinctive hemangiopericytomatous vasculature. Other features reported to be associated with FH-deficient leiomyomas (hypercellularity, nuclear atypia, inclusion-like nucleoli, stromal edema) were inconstantly present. Somatic FH mutations were identified in 6 of 10 informative unselected FH-deficient leiomyomas. None of these mutations were found in the germline. We conclude that, while the great majority of patients with HLRCC will have FH-deficient leiomyomas, 1% of all uterine leiomyomas are FH deficient usually due to somatic inactivation. Although IHC screening for FH may have a role in confirming patients at high risk for hereditary disease before genetic testing, prospective identification of FH-deficient leiomyomas is of limited clinical benefit in screening unselected patients because of the relatively high incidence of somatic mutations. PMID:26574848

  14. Fumarate Hydratase–deficient Uterine Leiomyomas Occur in Both the Syndromic and Sporadic Settings

    PubMed Central

    Harrison, Wesley J.; Andrici, Juliana; Maclean, Fiona; Madadi-Ghahan, Raha; Farzin, Mahtab; Sioson, Loretta; Toon, Christopher W.; Clarkson, Adele; Watson, Nicole; Pickett, Justine; Field, Michael; Crook, Ashley; Tucker, Katherine; Goodwin, Annabel; Anderson, Lyndal; Srinivasan, Bhuvana; Grossmann, Petr; Martinek, Petr; Ondič, Ondrej; Hes, Ondřej; Trpkov, Kiril; Clifton-Bligh, Roderick J.; Dwight, Trisha

    2016-01-01

    Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome secondary to germline fumarate hydratase (FH) mutation presents with cutaneous and uterine leiomyomas, and a distinctive aggressive renal carcinoma. Identification of HLRCC patients presenting first with uterine leiomyomas may allow early intervention for renal carcinoma. We reviewed the morphology and immunohistochemical (IHC) findings in patients with uterine leiomyomas and confirmed or presumed HLRCC. IHC was also performed on a tissue microarray of unselected uterine leiomyomas and leiomyosarcomas. FH-deficient leiomyomas underwent Sanger and massively parallel sequencing on formalin-fixed paraffin-embedded tissue. All 5 patients with HLRCC had at least 1 FH-deficient leiomyoma: defined as completely negative FH staining with positive internal controls. One percent (12/1152) of unselected uterine leiomyomas but 0 of 88 leiomyosarcomas were FH deficient. FH-deficient leiomyoma patients were younger (42.7 vs. 48.8 y, P=0.024) and commonly demonstrated a distinctive hemangiopericytomatous vasculature. Other features reported to be associated with FH-deficient leiomyomas (hypercellularity, nuclear atypia, inclusion-like nucleoli, stromal edema) were inconstantly present. Somatic FH mutations were identified in 6 of 10 informative unselected FH-deficient leiomyomas. None of these mutations were found in the germline. We conclude that, while the great majority of patients with HLRCC will have FH-deficient leiomyomas, 1% of all uterine leiomyomas are FH deficient usually due to somatic inactivation. Although IHC screening for FH may have a role in confirming patients at high risk for hereditary disease before genetic testing, prospective identification of FH-deficient leiomyomas is of limited clinical benefit in screening unselected patients because of the relatively high incidence of somatic mutations. PMID:26574848

  15. 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

  16. Netherton Syndrome in a Neonate with Possible Growth Hormone Deficiency and Transient Hyperaldosteronism.

    PubMed

    Ilias, Chatziioannidis; Evgenia, Babatseva; Aikaterini, Patsatsi; Asimina, Galli-Tsinopoulou; Constantina, Sarri; Maria, Lithoxopoulou; George, Mitsiakos; Paraskevi, Karagianni; Christos, Tsakalidis; Zissis, Mamuris; Nikolaos, Nikolaidis

    2015-01-01

    Netherton syndrome, a rare autosomal recessive genetic disorder, is classified as an ichthyosiform syndrome. In this report we present the case of a neonate with erythroderma shortly after birth, accompanied by severe hypernatremia, recurrent infections, transient hyperaldosteronism, and signs of growth hormone (GH) deficiency. DNA molecular analysis in the SPINK5 gene revealed heterozygosity in our index patient for 238insG and 2468delA frameshift mutations in exons 4 and 26, respectively, in the maternal allele and 1431-12G>A splice-site mutation in intron 15 in the paternal allele as well as the missense variation E420K in homozygous state. Combination of the identified mutations along with transient hyperaldosteronism and possible GH deficiency have not been described before. Accordingly, the importance of early multidisciplinary approach is highlighted, in order to reach accurate diagnosis, initiate prompt treatment, and ensure survival with fewer disease complications. PMID:26229701

  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. Netherton Syndrome in a Neonate with Possible Growth Hormone Deficiency and Transient Hyperaldosteronism

    PubMed Central

    Ilias, Chatziioannidis; Evgenia, Babatseva; Aikaterini, Patsatsi; Asimina, Galli-Tsinopoulou; Constantina, Sarri; Maria, Lithoxopoulou; George, Mitsiakos; Paraskevi, Karagianni; Christos, Tsakalidis; Zissis, Mamuris; Nikolaos, Nikolaidis

    2015-01-01

    Netherton syndrome, a rare autosomal recessive genetic disorder, is classified as an ichthyosiform syndrome. In this report we present the case of a neonate with erythroderma shortly after birth, accompanied by severe hypernatremia, recurrent infections, transient hyperaldosteronism, and signs of growth hormone (GH) deficiency. DNA molecular analysis in the SPINK5 gene revealed heterozygosity in our index patient for 238insG and 2468delA frameshift mutations in exons 4 and 26, respectively, in the maternal allele and 1431-12G>A splice-site mutation in intron 15 in the paternal allele as well as the missense variation E420K in homozygous state. Combination of the identified mutations along with transient hyperaldosteronism and possible GH deficiency have not been described before. Accordingly, the importance of early multidisciplinary approach is highlighted, in order to reach accurate diagnosis, initiate prompt treatment, and ensure survival with fewer disease complications. PMID:26229701

  19. 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…

  20. Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism.

    PubMed

    Schulze, A; Hess, T; Wevers, R; Mayatepek, E; Bachert, P; Marescau, B; Knopp, M V; De Deyn, P P; Bremer, H J; Rating, D

    1997-10-01

    Hepatic guanidinoacetate methyltransferase deficiency induces a deficiency of creatine/phosphocreatine in muscle and brain and an accumulation of guanidinoacetic acid (GAA), the precursor of creatine. We describe a patient with this defect, a 4-year-old girl with a dystonic-dyskinetic syndrome in addition to developmental delay and therapy-resistant epilepsy. Several methods were used in the diagnosis of the disease: (1) the creatinine excretion in 24-hour urine was significantly lowered, whereas the creatinine concentration in plasma and in randomly collected urine was not strikingly different from control values; (2) the Sakaguchi staining reaction of guanidino compounds in random urine samples indicated an enhanced GAA excretion; (3) GAA excretion measured quantitatively by guanidino compound analysis using an amino acid analyzer was markedly elevated in random urine samples; (4) in vivo 1H magnetic resonance spectroscopy (MRS) revealed a strong depletion of creatine and an accumulation of GAA in brain; (5) in vivo phosphorus 31 MRS showed a strong decrease of the phosphocreatine resonance and a resonance identified as guanidinoacetate phosphate; and (6) in vitro 1H MRS showed an absence of creatine and creatinine resonances in cerebrospinal fluid and the occurrence of GAA in urine. For early detection of this disease, we recommend the Sakaguchi staining reaction of urine from patients with dystonic-dyskinetic syndrome, seizures, and psychomotor retardation. Positive results should result in further investigations including quantitative guanidino compound analysis and both in vivo and in vitro MRS. Although epilepsy was not affected by orally administered creatine (400 to 500 mg/kg per day), this treatment resulted in clinical improvement and an increase of creatine in cerebrospinal fluid and brain tissue. PMID:9386672

  1. Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency

    PubMed Central

    Mencacci, Niccolo E.; Cordivari, Carla; Batla, Amit; Wood, Nick W.; Houlden, Henry; Hardy, John; Bhatia, Kailash P.

    2012-01-01

    Objective: To present a new family with tyrosine hydroxylase deficiency (THD) that presented with a new phenotype of predominant, levodopa-responsive myoclonus with dystonia due to compound heterozygosity of one previously reported mutation in the promoter region and a novel nonsynonymous mutation in the other allele, thus expanding the clinical and genetic spectrum of this disorder. Methods: We performed detailed clinical examination of the family and electrophysiology to characterize the myoclonus. We performed analysis of the TH gene and in silico prediction of the possible effect of nonsynonymous substitutions on protein structure. Results: Electrophysiology suggested that the myoclonus was of subcortical origin. Genetic analysis of the TH gene revealed compound heterozygosity of a point mutation in the promoter region (c.1-71 C>T) and a novel nonsynonymous substitution in exon 12 (c.1282G>A, p.Gly428Arg). The latter is a novel variant, predicted to have a deleterious effect on the TH protein function and is the first pathogenic TH mutation in patients of African ancestry. Conclusion: We presented a THD family with predominant myoclonus-dystonia and a new genotype. It is important to consider THD in the differential diagnosis of myoclonus-dystonia, because early treatment with levodopa is crucial for these patients. PMID:22815559

  2. 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.

  3. 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…

  4. AIDS: Implications for Families.

    ERIC Educational Resources Information Center

    Macklin, Eleanor D.

    1988-01-01

    Reviews facts about Acquired Immune Deficiency Syndrome (AIDS) and its epidemiology. Discusses implications for families (social stigma and isolation, fears of contagion, infection and abandonment, guilt, anger, grief, and economic hardship) and for human service professionals (public education, voluntary, anonymous testing with counseling, and…

  5. Street Youth & AIDS.

    ERIC Educational Resources Information Center

    Radford, Joyce L.; And Others

    Interviews were conducted with 712 Canadian street youth (ages 15-20 years) to assess their knowledge, attitudes, and behaviors with regard to Acquired Immune Deficiency Syndrome (AIDS) and other sexually transmitted diseases (STDs). Youth were interviewed in 10 cities across Canada on the basis of 5 street culture lifestyles: prostitution, drug…

  6. 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…

  7. Wild birds of declining European species are dying from a thiamine deficiency syndrome

    PubMed Central

    Balk, Lennart; Hägerroth, Per-Åke; Åkerman, Gun; Hanson, Marsha; Tjärnlund, Ulla; Hansson, Tomas; Hallgrimsson, Gunnar Thor; Zebühr, Yngve; Broman, Dag; Mörner, Torsten; Sundberg, Henrik

    2009-01-01

    Wild birds of several species are dying in large numbers from an idiopathic paralytic disease in the Baltic Sea area. Here, we demonstrate strong relationships between this disease, breeding failure, and thiamine (vitamin B1) deficiency in eggs, pulli, and full-grown individuals. Thiamine is essential for vertebrates, and its diphosphorylated form functions as a cofactor for several life sustaining enzymes, whereas the triphosphorylated form is necessary for the functioning of neuronal membranes. Paralyzed individuals were remedied by thiamine treatment. Moreover, thiamine deficiency and detrimental effects on thiamine-dependent enzymes were demonstrated in the yolk, liver, and brain. We propose that the mortality and breeding failure are part of a thiamine deficiency syndrome, which may have contributed significantly to declines in many bird populations during the last decades. PMID:19597145

  8. Hypocretin-1 deficiency in a girl with ROHHAD syndrome.

    PubMed

    Dhondt, Karlien; Verloo, Patrick; Verhelst, Hélène; Van Coster, Rudy; Overeem, Sebastiaan

    2013-09-01

    Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) is a rare and complex pediatric syndrome, essentially caused by dysfunction of 3 vital systems regulating endocrine, respiratory, and autonomic nervous system functioning. The clinical spectrum of ROHHAD is broad, but sleep/wake disorders have received relatively little attention so far, although the central hypothalamic dysfunction would make the occurrence of sleep symptoms likely. In this case report, we expand the phenotype of ROHHAD with a number of striking sleep symptoms that together can be classified as a secondary form of narcolepsy. We present a 7-year-old girl with ROHHAD who displayed the classic features of narcolepsy with cataplexy: excessive daytime sleepiness with daytime naps, visual hallucinations, and partial cataplexy reflected in intermittent loss of facial muscle tone. Nocturnal polysomnography revealed sleep fragmentation and a sleep-onset REM period characteristic for narcolepsy. The diagnosis was confirmed by showing an absence of hypocretin-1 in the cerebrospinal fluid. We discuss potential pathophysiological implications as well as symptomatic treatment options. PMID:23940246

  9. 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. PMID:25112388

  10. 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

  11. Gingival overgrowth caused by vitamin C deficiency associated with metabolic syndrome and severe periodontal infection: a case report.

    PubMed

    Omori, Kazuhiro; Hanayama, Yoshihisa; Naruishi, Koji; Akiyama, Kentaro; Maeda, Hiroshi; Otsuka, Fumio; Takashiba, Shogo

    2014-12-01

    It has been suggested that vitamin C deficiency/scurvy is associated with gingival inflammatory changes; however, the disorder is very infrequently encountered in the modern era. Here, we report a case of extensive gingival overgrowth caused by vitamin C deficiency associated with metabolic syndrome and severe periodontal infection. PMID:25548632

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

    PubMed

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

    2016-03-01

    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

  13. Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity.

    PubMed

    Descargues, Pascal; Deraison, Céline; Bonnart, Chrystelle; Kreft, Maaike; Kishibe, Mari; Ishida-Yamamoto, Akemi; Elias, Peter; Barrandon, Yann; Zambruno, Giovanna; Sonnenberg, Arnoud; Hovnanian, Alain

    2005-01-01

    Mutations in SPINK5, encoding the serine protease inhibitor LEKTI, cause Netherton syndrome, a severe autosomal recessive genodermatosis. Spink5(-/-) mice faithfully replicate key features of Netherton syndrome, including altered desquamation, impaired keratinization, hair malformation and a skin barrier defect. LEKTI deficiency causes abnormal desmosome cleavage in the upper granular layer through degradation of desmoglein 1 due to stratum corneum tryptic enzyme and stratum corneum chymotryptic enzyme-like hyperactivity. This leads to defective stratum corneum adhesion and resultant loss of skin barrier function. Profilaggrin processing is increased and implicates LEKTI in the cornification process. This work identifies LEKTI as a key regulator of epidermal protease activity and degradation of desmoglein 1 as the primary pathogenic event in Netherton syndrome. PMID:15619623

  14. 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

  15. The Tragedy of AIDS: A New Trial for Nursing Education.

    ERIC Educational Resources Information Center

    Hodges, Linda C.; Poteet, Gaye W.

    1987-01-01

    Presents some recent facts regarding Acquired Immune Deficiency Syndrome (AIDS). Discusses the needs of nursing students for knowledge about this disease and how to protect themselves while caring for patients. Discusses the fear of contagion among health workers. (CH)

  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. Relation between Neonatal Icter and Gilbert Syndrome in Gloucose-6-Phosphate Dehydrogenase Deficient Subjects

    PubMed Central

    Zahedpasha, Yadollah; Ahmadpour, Mousa; Niaki, Haleh Akhavan; Alaee, Ehsan

    2014-01-01

    Background and Aim: The pathogenesis of neonatal hyperbilirubinemia hasn’t been completely defined in Gloucose-6-Phosphate Dehydrogenase (G6PD) deficient newborns. The aim of this study was to detect the relationship between Gilbert’s syndrome and hyperbilirubinemia in Gloucose-6-Phosphate Dehydrogenase (G6PD) deficient neonates. Materials and Methods: This case-control study was conducted in Amirkola pediatrics teaching hospital, Babol, Iran. A total number of one hundred four infants were included in the study (51 infants with neonatal jaundice and Gloucose-6-Phosphate Dehydrogenase (G6PD) deficiency admitted to phototherapy or transfusion were selected as the case group and 53 infants with Gloucose-6-Phosphate Dehydrogenase (G6PD) deficiency admitted for other reasons than jaundice were selected as the control group). Exclusion criteria were ABO or Rh incompatibility or other reasons that made Coombs test positive, sepsis, hepatosplenomegaly, metabolic diseases, medical treatment and phototherapy. The promoter and coding regions of Uridine diphosphate Glucuronosyl Transferase 1A1 (UGT1A1) of genomic DNA were amplified by polymerase chain reaction (PCR) isolated from leukocytes. We used chi-square test and t-test to compare cases and controls. Results: Distribution of Gilbert genome was not significantly different between the two groups; among cases, 33.3% were homozygote, 35.3% heterozygote, and 31.4% normal. Among controls, 22.6% were homozygote, 34% heterozygote, and 43.4% normal (p-value=xxx). Hyperbilirubinemia family history didn’t differ significantly between these two groups. Conclusions: We showed that in Gloucose-6-Phosphate Dehydrogenase (G6PD) deficient neonates, there was no significant association between Gilbert’s syndrome (promoter polymorphism) and hyperbilirubinemia. PMID:24783083

  18. 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…

  19. 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…

  20. AIDS, Social Sciences, and Health Education: A Personal Perspective.

    ERIC Educational Resources Information Center

    Osborn, June E.

    1986-01-01

    Explores the nature of the new AIDS (Acquired Immune Deficiency Syndrome) virus and its diseases, avoidance strategies, neurologic disease and AIDS, co-factors involved in progression from asymptomatic infection to disease, AIDS versus civil liberties--barriers to effective communication, the importance of language in communication, and health…

  1. College Students' Awareness and Interpretation of the AIDS Risk.

    ERIC Educational Resources Information Center

    Freimuth, Vicki S.; And Others

    1987-01-01

    Reports on a study designed to provide insight on college students' perception about acquired immune deficiency syndrome (AIDS). Focuses on students knowledge about AIDS, their perceptions about their own risk, and any change in behavior they have made in response to the AIDS risk. (TW)

  2. 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…

  3. 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…

  4. "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 (PSAs). Taking…

  5. The Correlation between Homosexuality and an AIDS Diagnosis: Is It Perceived or Real?

    ERIC Educational Resources Information Center

    Triplet, Rodney G.; And Others

    Prior research on observer perceptions of Acquired Immune Deficiency Syndrome (AIDS) patients has concluded that there is a strong tendency to assume that homosexuals are patients of AIDS while heterosexuals are patients of anything but AIDS. This study sought to determine if there was a greater tendency to diagnose AIDS among female homosexuals…

  6. Fourth Graders' Attitudes toward AIDS Issues: A Concern for the Elementary School Counselor.

    ERIC Educational Resources Information Center

    Holcomb, Thomas F.

    1990-01-01

    Examined attitudes toward Acquired Immune Deficiency Syndrome (AIDS) issues among 224 fourth grade students. Student responses to 36-item questionnaire revealed that students had good understanding of 3 major modes of spreading AIDS. They perceived AIDS as real and formidable health problem and expressed fears and concerns about AIDS. Findings…

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

    PubMed Central

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

    2015-01-01

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

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

    PubMed

    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; Boisson-Dupuis, Stéphanie

    2015-09-21

    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

  9. Neuromuscular junction immaturity and muscle atrophy are hallmarks of the ColQ-deficient mouse, a model of congenital myasthenic syndrome with acetylcholinesterase deficiency.

    PubMed

    Sigoillot, Séverine M; Bourgeois, Francine; Karmouch, Jennifer; Molgó, Jordi; Dobbertin, Alexandre; Chevalier, Catherine; Houlgatte, Rémi; Léger, Jean; Legay, Claire

    2016-06-01

    The collagen ColQ anchors acetylcholinesterase (AChE) in the synaptic cleft of the neuromuscular junction (NMJ). It also binds MuSK and perlecan/dystroglycan, 2 signaling platforms of the postsynaptic domain. Mutations in ColQ cause a congenital myasthenic syndrome (CMS) with AChE deficiency. Because the absence of AChE does not fully explain the complexity of the syndrome and there is no curative treatment for the disease, we explored additional potential targets of ColQ by conducting a large genetic screening of ColQ-deficient mice, a model for CMS with AChE deficiency, and analyzed their NMJ and muscle phenotypes. We demonstrated that ColQ controls the development and the maturation of the postsynaptic domain by regulating synaptic gene expression. Notably, ColQ deficiency leads to an up-regulation of the 5 subunits of the nicotinic acetylcholine receptor (AChR), leading to mixed mature and immature AChRs at the NMJ of adult mice. ColQ also regulates the expression of extracellular matrix (ECM) components. However, whereas the ECM mRNAs were down-regulated in vitro, compensation seemed to occur in vivo to maintain normal levels of these mRNAs. Finally, ColQ deficiency leads to a general atrophic phenotype and hypoplasia that affect fast muscles. This study points to new specific hallmarks for this CMS.-Sigoillot, S. M., Bourgeois, F., Karmouch, J., Molgó, J., Dobbertin, A., Chevalier, C., Houlgatte, R., Léger, J., Legay, C. Neuromuscular junction immaturity and muscle atrophy are hallmarks of the ColQ-deficient mouse, a model of congenital myasthenic syndrome with acetylcholinesterase deficiency. PMID:26993635

  10. 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

  11. 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

  12. 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. PMID:25904436

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

    PubMed Central

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

    2015-01-01

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

  14. 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

  15. 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. PMID:26482524

  16. 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…

  17. 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.…

  18. Adolescents and AIDS: Stopping the Time Bomb.

    ERIC Educational Resources Information Center

    Yondorf, Barbara A.

    1990-01-01

    There is mounting evidence that the human immunodeficiency virus (HIV) that causes acquired immune deficiency syndrome (AIDS) is spreading rapidly among teenagers. To stop this spread of HIV infection, experts agree that states need to include HIV/AIDS prevention and education as an integral part of comprehensive health education programs for…

  19. 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…

  20. Counseling Gay Men with AIDS: Human Dimensions.

    ERIC Educational Resources Information Center

    Barret, Robert L.

    1989-01-01

    Provides case material that demonstrates the emotional response of homosexual men to Acquired Immune Deficiency Syndrome (AIDS). Discusses denial, anger, rage, guilt, and shame experienced by these men with an emphasis on the human dimensions of AIDS. Concludes that most powerful contribution of counselors is their willingness to "be with" persons…

  1. 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…

  2. HIV & AIDS Prevention Guide for Parents.

    ERIC Educational Resources Information Center

    Lerro, Marc

    This guide is intended to help parents of adolescents and adults with mental retardation to teach their sons and daughters about HIV (Human Immunodeficiency Virus) and AIDS (Acquired Immune Deficiency Syndrome). An official resolution on AIDS adopted by The Arc, an organization for citizens with mental retardation, begins the guide. This…

  3. 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…

  4. Syndrome of selective IgM deficiency with severe T cell deficiency associated with disseminated cutaneous mycobacterium avium intracellulaire infection

    PubMed Central

    Gharib, Asal; Louis, Ankmalika Gupta; Agrawal, Sudhanshu; Gupta, Sudhir

    2015-01-01

    Cutaneous non-disseminated, non-tuberculous mycobacterial infections have been reported in both immunocompetent and immunocompromised subjects. Systemic Mycobacterium avium intracellulaire (MAI) have been reported in non-HIV patients with Idiopathic CD4 lymphocytopenia. We report a comprehensive immunological analysis in syndrome of selective IgM deficiency and T lymphocytopenia (both CD4+ and CD8+) with disseminated cutaneous MAI infection. Naïve (TN) and Central memory (TCM) subsets of both CD4+ and CD8+ T cells were decreased, whereas terminally differentiated effector memory (TEMRA) subset of CD4+ and CD8+ T cells were markedly increased. IFN-γ producing T cells were markedly decreased. Although CD14highCD16- proinflammatory monocytes were modestly increased, IFN-γR+ monocytes were markedly decreased. The expression of TLR3, TLR5, TLR7, and TLR9 on monocytes was decreased. Germinal center B cells (CD19+IgD-CD38+CD27lo) and B1 cells (CD20+CD27+CD43+CD70-) were markedly decreased. A role of immune alterations, including B cells and antibodies in disseminated cutaneous MAI infection is discussed. PMID:26550546

  5. Syndrome of selective IgM deficiency with severe T cell deficiency associated with disseminated cutaneous mycobacterium avium intracellulaire infection.

    PubMed

    Gharib, Asal; Louis, Ankmalika Gupta; Agrawal, Sudhanshu; Gupta, Sudhir

    2015-01-01

    Cutaneous non-disseminated, non-tuberculous mycobacterial infections have been reported in both immunocompetent and immunocompromised subjects. Systemic Mycobacterium avium intracellulaire (MAI) have been reported in non-HIV patients with Idiopathic CD4 lymphocytopenia. We report a comprehensive immunological analysis in syndrome of selective IgM deficiency and T lymphocytopenia (both CD4+ and CD8+) with disseminated cutaneous MAI infection. Naïve (TN) and Central memory (TCM) subsets of both CD4+ and CD8+ T cells were decreased, whereas terminally differentiated effector memory (TEMRA) subset of CD4+ and CD8+ T cells were markedly increased. IFN-γ producing T cells were markedly decreased. Although CD14(high)CD16- proinflammatory monocytes were modestly increased, IFN-γR+ monocytes were markedly decreased. The expression of TLR3, TLR5, TLR7, and TLR9 on monocytes was decreased. Germinal center B cells (CD19+IgD-CD38+CD27(lo)) and B1 cells (CD20+CD27+CD43+CD70-) were markedly decreased. A role of immune alterations, including B cells and antibodies in disseminated cutaneous MAI infection is discussed. PMID:26550546

  6. Cholestasis Reveals Severe Cortisol Deficiency in Neonatal Pituitary Stalk Interruption Syndrome

    PubMed Central

    Mauvais, Francois-Xavier; Gonzales, Emmanuel; Davit-Spraul, Anne; Jacquemin, Emmanuel; Brauner, Raja

    2016-01-01

    Objectives Cholestasis has been reported during the course of congenital hypothalamic-pituitary deficiency, but crucial information is lacking regarding both its origin and prognosis. We aimed to characterize the course of cholestasis and factors contributing to it in patients with deficiency due to pituitary stalk interruption syndrome (PSIS). Methods We conducted a retrospective single-center, case-cohort study including 16 patients with PSIS diagnosed before one year of age. We collected clinical and biological parameters from medical records and compared the characteristics of the endocrine syndrome in PSIS patients with and without cholestasis. Results 5/16 patients had cholestasis, all with a neonatal onset and multiple hypothalamic-pituitary deficiency. Patients with cholestasis presented with lower Apgar score and higher rate of ophthalmic malformations: 3/5 vs 1/11, p = 0.03 and 5/5 vs 4/11, p = 0.02, respectively. The plasma cortisol level was strongly decreased in patients with cholestasis: 12.4 ng/mL (8–15 ng/mL) vs 79.4 ng/mL (10–210 ng/mL), p = 0.04. Cholestasis resolved within 9 months following hormone supplementation. No development of chronic liver disease was observed during a median follow-up of 9.4 years (range, 1.3–13.3 years). Conclusions Cholestasis is a frequent symptom at presentation of PSIS during the neonatal period that may help earlier diagnosis and that indicates a profound cortisol deficiency. PMID:26829045

  7. Multiglandular Hormone Deficiency in a Patient with Systemic Capillary Leak Syndrome

    PubMed Central

    Then, Cornelia; Ritzel, Katrin; Seibold, Christa; Mann, Johannes F. E.; Reincke, Martin

    2015-01-01

    Systemic capillary leak syndrome (SCLS) is a rare but potentially fatal disorder characterized by a loss of fluid and proteins into the interstitial space leading to intravascular hypovolemia up to the point of hypovolemic shock. We report the case of a 64-year-old man with SCLS and multiple hormone abnormalities (primary hypothyroidism, hypoadrenalism, and hypogonadism), deficiency of hormone binding globulins, and hypogammaglobulinemia. The patient was successfully treated with intravenous immunoglobulins, theophylline, and terbutaline. Strikingly, with the dissolution of peripheral edema, hormone levels improved. To our knowledge, this is the first reported case of SCLS associated with polyglandular abnormalities. PMID:25685157

  8. Gingival mass in acquired immune deficiency syndrome patient: An unusual manifestation

    PubMed Central

    Shah, Jigna S.; Prajapati, Monali N.

    2016-01-01

    Non-Hodgkin's lymphoma (NHL) is designated as an acquired immune deficiency syndrome defining condition. Although uncommon, it is essential to be wary of this neoplasm since intraoral manifestations may be the first clinical manifestation of HIV disease. The gingiva is one of the rarest intraoral sites with a prevalence of 0.6%. Careful evaluation of patients presenting with solitary atypical gingival mass can lead to early detection of HIV disease. Here, we report a case of NHL manifesting as a gingival mass in a 45-year-old HIV-positive female patient. PMID:27190419

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

    PubMed

    Sayed-Ahmed, Mohamed M; 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 4(th), 5(th) and 6(th) 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

  11. 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.

  12. Late presentation of simple virilising 21-hydroxylase deficiency in a Chinese woman with Turner's syndrome.

    PubMed

    Lee, K F; Chan, Angel O K; Fok, Juliana M C; Mak, Maria W H; Yu, K C; Lee, K M; Shek, C C

    2013-06-01

    Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency is a well-known disorder of sexual development (previously known as ambiguous genitalia) in genotypic female neonates. We report on a 66-year-old Chinese, brought up as male, with a simple virilising form of congenital adrenal hyperplasia associated with Turner's syndrome (karyotype 45,X/47,XXX/46,XX). His late presentation was recognised due to his exceptionally short stature and persistent sexual ambiguity. His condition was only brought to medical attention as he developed a huge abdominal mass, which later turned out to be a benign ovarian mucinous cyst. It is therefore important to look out for co-existing congenital adrenal hyperplasia in patients with Turner's syndrome and virilisation, after the presence of Y chromosome material has been excluded. PMID:23732434

  13. Tenascin-X deficiency mimics Ehlers-Danlos syndrome in mice through alteration of collagen deposition.

    PubMed

    Mao, Jau Ren; Taylor, Glen; Dean, Willow B; Wagner, Diane R; Afzal, Veena; Lotz, Jeffrey C; Rubin, Edward M; Bristow, James

    2002-04-01

    Tenascin-X is a large extracellular matrix protein of unknown function. Tenascin-X deficiency in humans is associated with Ehlers-Danlos syndrome, a generalized connective tissue disorder resulting from altered metabolism of the fibrillar collagens. Because TNXB is the first Ehlers-Danlos syndrome gene that does not encode a fibrillar collagen or collagen-modifying enzyme, we suggested that tenascin-X might regulate collagen synthesis or deposition. 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. PMID:11925569

  14. Deficiencies of fibrillin and decorin in fibroblast cultures of a patient with neonatal Marfan syndrome.

    PubMed Central

    Superti-Furga, A; Raghunath, M; Willems, P J

    1992-01-01

    Changes in the structure and metabolism of fibrillin, a microfibril associated protein, can result in classical Marfan syndrome, and reduced expression of decorin, a small extracellular chondroitin sulphate/dermatan sulphate proteoglycan, has been observed in fibroblasts of a patient with neonatally lethal Marfan syndrome. We have studied the synthesis of fibrillin and decorin in cultured fibroblasts of a further sporadic patient with neonatally lethal Marfan syndrome. Fibrillin immunoreactivity in the extracellular matrix of the patient's fibroblasts was markedly reduced, and the fibrillar pattern was absent, in spite of normal amounts of fibrillin mRNA. Decorin mRNA, synthesis, and immunoreactivity in the matrix were also reduced. The results indicate involvement of both fibrillin and decorin in the pathogenesis of neonatal Marfan syndrome in this patient, but do not indicate which is the primary defect. We speculate, however, that a structural defect of fibrillin leads to diminished incorporation of the protein into the extracellular matrix, and that underexpression of decorin is secondary to the primary fibrillin defect. Combined deficiency of fibrillin and decorin may be the cause of the severe clinical phenotype. Images PMID:1479602

  15. 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.

  16. 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…

  17. 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

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

    PubMed

    Meuwissen, Marije E C; Schot, Rachel; Buta, Sofija; Oudesluijs, Grétel; Tinschert, Sigrid; Speer, Scott D; Li, Zhi; van Unen, Leontine; Heijsman, Daphne; Goldmann, Tobias; Lequin, Maarten H; Kros, Johan M; Stam, Wendy; Hermann, Mark; Willemsen, Rob; Brouwer, Rutger W W; Van IJcken, Wilfred F J; Martin-Fernandez, Marta; de Coo, Irenaeus; Dudink, Jeroen; de Vries, Femke A T; Bertoli Avella, Aida; Prinz, Marco; Crow, Yanick J; Verheijen, Frans W; Pellegrini, Sandra; Bogunovic, Dusan; Mancini, Grazia M S

    2016-06-27

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

  20. A case of severe proximal focal femoral deficiency with overlapping phenotypes of Al-Awadi-Raas-Rothschild syndrome and Fuhrmann syndrome.

    PubMed

    Matsushita, Masaki; Kitoh, Hiroshi; Mishima, Kenichi; Nishida, Yoshihiro; Ishiguro, Naoki

    2014-12-01

    Proximal focal femoral deficiency (PFFD) is a heterogeneous disorder characterized by various degrees of femoral deficiencies and associated anomalies of the pelvis and lower limbs. The etiology of the disease has not been determined. We report on a 3-year-old boy with severe PFFD, who showed almost completely absent femora and fibulae, malformed pelvis and ectrodactyly of the left foot. These features were partially overlapped with those of Al-Awadi-Raas-Rothschild syndrome or Fuhrmann syndrome, both of which are caused by WNT7A mutations. Molecular analysis of our case, however, demonstrated no disease-causing mutations in the WNT7A gene. PMID:24839142

  1. 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

  2. [Treatment approach to congenital myasthenic syndrome in a patient with acetylcholine receptor deficiency].

    PubMed

    Ishigaki, Keiko; Murakami, Terumi; Ito, Yasushi; Yanagisawa, Akiko; Kodaira, Kayano; Shishikura, Keiko; Suzuki, Haruko; Hirayama, Yoshito; Osawa, Makiko

    2009-01-01

    Congenital myasthenic syndromes (CMS) are rare heterogeneous disorders of neurotransmission caused by genetic defects of neuromuscular junction molecules. While CMS patients have been reported worldwide, in Japan there have been only a few descriptions of adult CMS patients with acetylcholinesterase (AChE) deficiency and slow channel syndrome. Herein, we report a Japanese CMS patient with acetylcholine receptor (AChR) deficiency, diagnosed during childhood, and our treatment approach to the patient. This 13-year-old Japanese boy had had severe myasthenic symptoms since infancy. Ptosis, his first symptom, appeared at 5 months and nasal voice was recognized at 2 years of age. AchR and anti-muscle-specific tyrosine kinase (Musk) antibody remained negative. A positive tensilon test and decremental response on electromyogram supported the diagnosis of sero-negative myasthenia gravis. Despite thymectomy and strong immunosuppressive therapy including steroid pulse and FK 506, he gradually deteriorated and became wheelchair bound. Genetic analyses for AchR, Rapsyn, Musk and AChE were negative. At age 11 years, a muscle biopsy was performed in the deltoid muscle for neuromuscular junction sampling. Electron microscopic and confocal microscopic analysis of endplates showed almost complete loss of AChR and the diagnosis of CMS with AChR deficiency was confirmed. All immunosuppressive therapies were discontinued. Instead, we started Ubretide and 3,4-diaminopyridine (DAP) after obtaining informed consent. Although not approved in Japan for this use, 3,4-DAP is reportedly effective in refractory cases of CMS. The patient experienced no side effects. Despite all of the objective data were improving, his subjective symptoms and ADL remained poor. There are still many challenges in the treatment of the patient. PMID:19172815

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

    PubMed

    Kosho, Tomoki

    2016-02-01

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

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

    ERIC Educational Resources Information Center

    World Health Organization, Geneva (Switzerland).

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

  5. 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…

  6. The Influence of Homophobia and Knowledge of AIDS on Empathy for Persons with AIDS.

    ERIC Educational Resources Information Center

    Walters, Andrew S.

    There has been considerable variation in reports of how much people know about Acquired Immune Deficiency Syndrome (AIDS). This study explored empathy towards persons with AIDS. The first part of the study involved pretesting subjects on two scales. Data were collected from 125 male and 125 female college students. A factor analysis revealed there…

  7. Identifying risk factors of immune reconstitution inflammatory syndrome in AIDS patients receiving highly active anti-retroviral therapy.

    PubMed

    He, Bo; Zheng, Yuhuang; Liu, Meng; Zhou, Guoqiang; Chen, Xia; Mamadou, Diallo; He, Yan; Zhou, Huaying; Chen, Zi

    2013-01-01

    Immune reconstitution inflammation syndrome typically occurs within days after patients undergo highly active anti-retroviral therapy and is a big hurdle for effective treatment of AIDS patients. In this study, we monitored immune reconstitution inflammation syndrome occurrence in 238 AIDS patients treated with highly active anti-retroviral therapy. Among them, immune reconstitution inflammation syndrome occurred in 47 cases (19.7%). Immune reconstitution inflammation syndrome patients had significantly higher rate of opportunistic infection (p<0.001) and persistently lower CD4(+) cell count (p<0.001) compared to the non-immune reconstitution inflammation syndrome patients. In contrast, no significant differences in HIV RNA loads were observed between the immune reconstitution inflammation syndrome group and non-immune reconstitution inflammation syndrome group. These data suggest that a history of opportunistic infection and CD4(+) cell counts at baseline may function as risk factors for immune reconstitution inflammation syndrome occurrence in AIDS patients as well as potential prognostic markers. These findings will improve the management of AIDS with highly active anti-retroviral therapy. PMID:23434049

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

    ERIC Educational Resources Information Center

    Bellis, David J.

    1990-01-01

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

  9. [Mental development disorders and attention-deficit syndrome caused by iodine deficiency: a clinical and epidemiological study].

    PubMed

    Zhukov, A O

    2007-01-01

    A clinical and epidemiological study including 2,397 children of school age living in the areas with different levels of or without iodine deficiency has been carried out. An increased frequency of cases with IQ not more than 80-85 scores was observed in iodine deficient areas. Iodine deficiency was a cause of clinically diagnosed borderline development delay only in 7% of children. Attention deficit syndrome (without hyperactivity) and anxiety-depressive disorders as well as asthenic symptoms were observed most frequently. Basing on the literature data and own observations, the author suggests a hypothesis on the pathogenetic basis of these disorders. PMID:18379482

  10. 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…

  11. 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…

  12. AIDS. CSAP Prevention Resource Guide.

    ERIC Educational Resources Information Center

    Zuckerman, Karen, Ed.

    This resource guide was compiled from a variety of publications and data bases and represents the most current information to date on Acquired Immune Deficiency Syndrome (AIDS) prevention. The guide is organized into three major sections. The first section lists prevention materials. For each entry, information is provided on the organization…

  13. Rapsyn Mutations in Humans Cause Endplate Acetylcholine-Receptor Deficiency and Myasthenic Syndrome

    PubMed Central

    Ohno, Kinji; Engel, Andrew G.; Shen, Xin-Ming; Selcen, Duygu; Brengman, Joan; Harper, C. Michel; Tsujino, Akira; Milone, Margherita

    2002-01-01

    Congenital myasthenic syndromes (CMSs) stem from genetic defects in endplate (EP)-specific presynaptic, synaptic, and postsynaptic proteins. The postsynaptic CMSs identified to date stem from a deficiency or kinetic abnormality of the acetylcholine receptor (AChR). All CMSs with a kinetic abnormality of AChR, as well as many CMSs with a deficiency of AChR, have been traced to mutations in AChR-subunit genes. However, in a subset of patients with EP AChR deficiency, the genetic defect has remained elusive. Rapsyn, a 43-kDa postsynaptic protein, plays an essential role in the clustering of AChR at the EP. Seven tetratricopeptide repeats (TPRs) of rapsyn subserve self-association, a coiled-coil domain binds to AChR, and a RING-H2 domain associates with β-dystroglycan and links rapsyn to the subsynaptic cytoskeleton. Rapsyn self-association precedes recruitment of AChR to rapsyn clusters. In four patients with EP AChR deficiency but with no mutations in AChR subunits, we identify three recessive rapsyn mutations: one patient carries L14P in TPR1 and N88K in TPR3; two are homozygous for N88K; and one carries N88K and 553ins5, which frameshifts in TPR5. EP studies in each case show decreased staining for rapsyn and AChR, as well as impaired postsynaptic morphological development. Expression studies in HEK cells indicate that none of the mutations hinders rapsyn self-association but that all three diminish coclustering of AChR with rapsyn. PMID:11791205

  14. Neonatal carnitine palmitoyltransferase II deficiency associated with Dandy-Walker syndrome and sudden death.

    PubMed

    Yahyaoui, Raquel; Espinosa, María Gracia; Gómez, Celia; Dayaldasani, Anita; Rueda, Inmaculada; Roldán, Ana; Ugarte, Magdalena; Lastra, Gonzalo; Pérez, Vidal

    2011-11-01

    Neonatal onset of carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal recessive, often lethal disorder of the mitochondrial beta-oxidation of long-chain fatty acids. It is a rare multiorgan disease which includes hypoketotic hypoglycemia, severe hepatomuscular symptoms, cardiac abnormalities, seizures and lethargy, as well as dysmorphic features. Until now, only 22 affected families have been described in the literature. An increasing number of mutations are being identified in the CPT2 gene, with a distinct genotype-phenotype correlation in most cases. Herein we report a new case of neonatal CPT II deficiency associated with Dandy-Walker syndrome and sudden death at 13 days of life. CPT II deficiency was suggested by acylcarnitine analysis of dried-blood on filter paper in the expanded newborn screening. Genetic analysis of the CPT2 gene identified the presence of a previously described mutation in homozygosity (c.534_558del25bpinsT). All lethal neonatal CPT II deficiency patients previously described presented severe symptoms during the first week of life, although this was not the case in our patient, who remained stable and without apparent vital risk during the first 11 days of life. The introduction of tandem mass spectrometry to newborn screening has substantially improved our ability to detect metabolic diseases in the newborn period. This case illustrates the value of expanded newborn screening in a neonate with an unusual clinical presentation, combining hydrocephalus and sudden death, that might not commonly lead to the suspicion of an inborn error of metabolism. PMID:21641254

  15. 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

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

    PubMed

    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

    2016-06-01

    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

  17. The immune pathogenesis of immune reconstitution inflammatory syndrome associated with highly active antiretroviral therapy in AIDS.

    PubMed

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

    2014-12-01

    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

  18. Serum metabolomics strategy for understanding pharmacological effects of ShenQi pill acting on kidney yang deficiency syndrome.

    PubMed

    Nan, Yang; Zhou, Xiaohang; Liu, Qi; Zhang, Aihua; Guan, Yu; Lin, Shanhua; Kong, Ling; Han, Ying; Wang, Xijun

    2016-07-15

    Kidney yang deficiency syndrome, a diagnostic pattern in Chinese medicine, is similar with clinical features of the glucocorticoid withdrawal syndrome. The aim of this present study was to explore low molecular mass differentiating metabolites between control group and model group of kidney yang deficiency rats induced with corticosterone as well as the therapeutic effect of Shen Qi Pill, a classic traditional Chinese medicine formula for treating Kidney yang deficiency syndrome in China. This study utilized ultra-performance liquid chromatography coupled with electrospray ionization synapt quadrupole time-of-flight high definition mass spectrometry (UPLC/ESI-SYNAPT-QTOF-HDMS) to identify the underlying biomarkers for clarifying mechanism of Shen Qi Pill in treating Kidney yang deficiency syndrome based on metabolite profiling of the serum samples and in conjunction with multivariate and pathway analysis. Meanwhile, blood biochemistry assay and histopathology were examined to identify specific changes in the model group rats. Distinct changes in the pattern of metabolites were observed by UPLC-HDMS. The changes in metabolic profiling were restored to their baseline values after treatment with Shen Qi Pill according to the combined with a principal component analysis (PCA) score plots. Altogether, the current metabolomics approach based on UPLC-HDMS and orthogonal projection to latent structures discriminate analysis (OPLS-DA) demonstrated 27 ions (18 in the negative mode, 9 in the positive mode, 17 ions restored by Shen Qi Pill). These results indicated that effectiveness of Shen Qi Pill in Kidney yang deficiency syndrome rats induced a substantial change in the metabolic profiles by regulating the biomarkers and adjusting the metabolic disorder. It suggested that the metabolomics approach was a powerful approach for elucidation of pathologic changes of Chinese medicine syndrome and action mechanisms of traditional Chinese medicine. PMID:26747643

  19. Survival transcriptome in the coenzyme Q10 deficiency syndrome is acquired by epigenetic modifications: a modelling study for human coenzyme Q10 deficiencies

    PubMed Central

    Fernández-Ayala, Daniel J M; Guerra, Ignacio; Jiménez-Gancedo, Sandra; Cascajo, Maria V; Gavilán, Angela; DiMauro, Salvatore; Hirano, Michio; Briones, Paz; Artuch, Rafael; De Cabo, Rafael; Salviati, Leonardo; Navas, Plácido

    2013-01-01

    Objectives Coenzyme Q10 (CoQ10) deficiency syndrome is a rare condition that causes mitochondrial dysfunction and includes a variety of clinical presentations as encephalomyopathy, ataxia and renal failure. First, we sought to set up what all have in common, and then investigate why CoQ10 supplementation reverses the bioenergetics alterations in cultured cells but not all the cellular phenotypes. Design Modelling study This work models the transcriptome of human CoQ10 deficiency syndrome in primary fibroblast from patients and study the genetic response to CoQ10 treatment in these cells. Setting Four hospitals and medical centres from Spain, Italy and the USA, and two research laboratories from Spain and the USA. Participants Primary cells were collected from patients in the above centres. Measurements We characterised by microarray analysis the expression profile of fibroblasts from seven CoQ10-deficient patients (three had primary deficiency and four had a secondary form) and aged-matched controls, before and after CoQ10 supplementation. Results were validated by Q-RT-PCR. The profile of DNA (CpG) methylation was evaluated for a subset of gene with displayed altered expression. Results CoQ10-deficient fibroblasts (independently from the aetiology) showed a common transcriptomic profile that promotes cell survival by activating cell cycle and growth, cell stress responses and inhibiting cell death and immune responses. Energy production was supported mainly by glycolysis while CoQ10 supplementation restored oxidative phosphorylation. Expression of genes involved in cell death pathways was partially restored by treatment, while genes involved in differentiation, cell cycle and growth were not affected. Stably demethylated genes were unaffected by treatment whereas we observed restored gene expression in either non-methylated genes or those with an unchanged methylation pattern. Conclusions CoQ10 deficiency induces a specific transcriptomic profile that promotes

  20. Generation and characterization of induced pluripotent stem cells from Aid-deficient mice.

    PubMed

    Shimamoto, Ren; Amano, Naoki; Ichisaka, Tomoko; Watanabe, Akira; Yamanaka, Shinya; Okita, Keisuke

    2014-01-01

    It has been shown that DNA demethylation plays a pivotal role in the generation of induced pluripotent stem (iPS) cells. However, the underlying mechanism of this action is still unclear. Previous reports indicated that activation-induced cytidine deaminase (Aid, also known as Aicda) is involved in DNA demethylation in several developmental processes, as well as cell fusion-mediated reprogramming. Based on these reports, we hypothesized that Aid may be involved in the DNA demethylation that occurs during the generation of iPS cells. In this study, we examined the function of Aid in iPS cell generation using Aid knockout (Aid⁻/⁻) mice expressing a GFP reporter under the control of a pluripotent stem cell marker, Nanog. By introducing Oct3/4, Sox2, Klf4 and c-Myc, Nanog-GFP-positive iPS cells could be generated from the fibroblasts and primary B cells of Aid⁻/⁻ mice. Their induction efficiency was similar to that of wild-type (Aid⁺/⁺) iPS cells. The Aid⁻/⁻ iPS cells showed normal proliferation and gave rise to chimeras, indicating their capacity for self-renewal and pluripotency. A comprehensive DNA methylation analysis showed only a few differences between Aid⁺/⁺ and Aid⁻/⁻ iPS cells. These data suggest that Aid does not have crucial functions in DNA demethylation during iPS cell generation. PMID:24718089

  1. What High School Students Who Are Mildly Mentally Retarded Know about the Human Immunodeficiency Virus/Acquired Immunodeficiency Syndrome.

    ERIC Educational Resources Information Center

    Cobb, Hazel B.; Horn, Charles J., Jr.

    Alabama high school students (N=309) with mild mental retardation completed a questionnaire concerning their knowledge, attitudes, and sources of information about human immune deficiency virus/acquired immune deficiency syndrome (HIV/AIDS). Students demonstrated some basic knowledge of HIV/AIDS, and expressed some concern about getting AIDS. They…

  2. 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)…

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

    Technology Transfer Automated Retrieval System (TEKTRAN)

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

  4. "Does AIDS Hurt?": Educating Young Children about AIDS. Suggestions for Parents, Teachers, and Other Care Providers of Children to Age 10.

    ERIC Educational Resources Information Center

    Quackenbush, Marcia; Villarreal, Sylvia

    This document gives parents, teachers, and others basic information and suggested guidelines for teaching children aged 10 and younger about Acquired Immune Deficiency Syndrome (AIDS). These topics concerning AIDS and young children are discussed: (1) talking with young children about AIDS; (2) things to keep in mind when talking with children,…

  5. 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…

  6. Hemolytic uremic syndrome and rhabdomyolysis in a patient with succinate coenzyme Q reductase (complex II) deficiency.

    PubMed

    Micheletti, M V; Lavoratti, G; Gasperini, S; Donati, M A; Pela, I

    2011-07-01

    Hemolytic uremic syndrome (HUS) is characterized by microangiopathic hemolytic anemia, thrombocytopenia and acute renal failure. Besides diarrhea-associated HUS, due to verotoxin-producing Escherichia coli, in children HUS without prodromal diarrhea may be associated with other infectious and autoimmune diseases, genetic defects of the complement-regulator alternative-pathway, and inborn errors of vitamin B12 metabolism. Rhabdomyolysis is the dissolution of skeletal muscle due to various causes, including inborn errors of metabolism. Recurrent rhabdomyolysis and HUS have been previously described in one patient with a genetic defect of oxidative phosphorylation. We report the case of a 2-year-old boy with recurrent HUS and rhabdomyolysis in whom a succinate coenzyme Q reductase (complex II) deficiency was diagnosed. We hypothesize that defects of oxidative phosphorylation could be another etiological factor in atypical HUS. PMID:21722608

  7. A simple screening method using ion chromatography for the diagnosis of cerebral creatine deficiency syndromes.

    PubMed

    Wada, Takahito; Shimbo, Hiroko; Osaka, Hitoshi

    2012-08-01

    Cerebral creatine deficiency syndromes (CCDS) are caused by genetic defects in L-arginine:glycine amidinotransferase, guanidinoacetate methyltransferase or creatine transporter 1. CCDS are characterized by abnormal concentrations of urinary creatine (CR), guanidinoacetic acid (GA), or creatinine (CN). In this study, we describe a simple HPLC method to determine the concentrations of CR, GA, and CN using a weak-acid ion chromatography column with a UV detector without any derivatization. CR, GA, and CN were separated clearly with the retention times (mean ± SD, n = 3) of 5.54 ± 0.0035 min for CR, 6.41 ± 0.0079 min for GA, and 13.53 ± 0.046 min for CN. This new method should provide a simple screening test for the diagnosis of CCDS. PMID:22080216

  8. Fibromyalgia syndrome: is it related to vitamin D deficiency in premenopausal female patients?

    PubMed

    Okumus, Muyesser; Koybası, Mine; Tuncay, Figen; Ceceli, Esma; Ayhan, Figen; Yorgancioglu, Rezan; Borman, Pinar

    2013-12-01

    There are a number of studies that have evaluated the relationship between fibromyalgia (FM) and vitamin D deficiency with conflicting results. The aim of this study was to assess vitamin D deficiency in patients with FM and to evaluate the relationship with the common symptoms of FM and levels of serum vitamin D. Forty premenopausal female fibromyalgia patients and 40 age- and sex-matched control subjects were included in the study. The demographic characteristics of all subjects, including age, sex, and body mass index, were recorded. The number of tender points was recorded, and the intensity of the widespread pain of the subjects was measured by the visual analog scale. The activities of daily living component of the Fibromyalgia Impact Questionnaire (FIQ-ADL), was used to assess physical functional capacity. Serum vitamin D was measured in both groups, and vitamin D levels <37.5 nmol/L were accepted as vitamin D deficiency. The vitamin D levels and clinical and laboratory characteristics of the patient and control groups were comparatively analyzed. The relationship between vitamin D levels and clinical findings of the FM patients were also determined. The mean age was 41.23 ± 4.8 and 39.48 ± 4.08 years for the patient and control groups, respectively. The pain intensity, number of tender points, and FIQ-ADL scores were higher in FM patients than in control subjects. The mean levels of vitamin D in the patient and control groups were determined to be 31.97 ± 15.50 and 28.97 ± 13.31 nmol/L, respectively (p > .05). The incidence of vitamin D deficiency was similar between the patient and control groups (67.5% vs. 70%). Vitamin D levels significantly correlated with pain intensity (r = -0.653; p = .001) and FIQ-ADL scores in the FM group (r = -0.344; p = .030). In conclusion, the results of this study indicate that deficiency of vitamin D is not more common in premenopausal female patients with FM than in control subjects without FM. However, the association

  9. Recent Sexually Transmitted Disease Prevention Efforts and Their Implications for AIDS Health Education.

    ERIC Educational Resources Information Center

    Solomon, Mildred Zeldes; DeJong, William

    1986-01-01

    The authors describe the principles and underlying assumptions that have guided the design of their STD (sexually transmitted diseases) initiatives, drawing special attention to the implications for AIDS (Acquired Immune Deficiency Syndrome) health education efforts. (Author/CT)

  10. Hexosaminidase A deficiency is an uncommon cause of a syndrome mimicking amyotrophic lateral sclerosis.

    PubMed

    Drory, Vivian E; Birnbaum, Miriam; Peleg, Leah; Goldman, Boleslaw; Korczyn, Amos D

    2003-07-01

    Patients with adult hexosaminidase A (Hex A) deficiency may have clinical manifestations similar to amyotrophic lateral sclerosis (ALS). Mutations in the hexosaminidase A (HEXA) gene are common in the Jewish Ashkenazi population in Israel. Serum samples of 115 Israeli patients with sporadic ALS were screened for enzymatic activity to detect "enzyme-based carriers." Fifteen samples with low (< 50%) enzymatic activity were subjected to mutation analysis, which included the two common mutations in the HEXA gene among Ashkenazi Jews (+1278TATC and IVS12+1G-->C). Three "enzymatic carrier" patients of Moroccan origin were checked for two additional mutations (DeltaF304/305 and Arg170-->Gln), specific to this ethnic group. Two "enzymatic carrier" patients of Iraqi origin were analyzed for the mutation Gly250-->Val, specific to this population. The mutation Gly 269-->Ser was screened in carriers of Ashkenazi origin only (n = 10). The only abnormalities found were heterozygous +1278TATC mutations in two Ashkenazi patients. Their clinical presentation was not different from that usually encountered in ALS. The frequency of mutations in the HEXA gene among Israeli ALS patients was not higher than in the healthy Israeli population. Therefore, Hex A deficiency seems to be a very unlikely cause of an ALS-mimic syndrome. PMID:12811781

  11. Should Patients with Trichorhinophalangeal Syndrome be Tested for Growth Hormone Deficiency?

    PubMed

    Marques, Jorge Sales; Maia, Catarina; Almeida, Raquel; Isidoro, Lara; Dias, Catarina

    2015-09-01

    Type 1 Trichorhinophalangeal syndrome (TRPS) is characterized by typical facial and skeletal abnormalities. These patients frequently exhibit short stature; however, only one case with growth hormone (GH) deficiency can be found in the literature. Our patient is a 10-year-old girl with two novel nonsense pathogenic mutations in the TRPS1 gene, both in heterozygosity: c. 1198C>T (p. Gln400X) and c.2086C>T (p. Arg696X). She has an additional GH deficiency. The patient is short in stature, with a growth velocity of 1.5 cm per year (SDS - 4.07), a bone age of 4.5 years, and she shows no response to the GH stimulation tests. According to a previous report of an identical case, catch-up growth will occur after beginning GH treatment. We believe that GH stimulation tests should be performed on patients with TRPS1 exhibiting a growth velocity below the normal range expected for their age and sex. If the result is subnormal, then GH therapy should be attempted. PMID:26540763

  12. Primary Carnitine Deficiency Presents Atypically with Long QT Syndrome: A Case Report.

    PubMed

    De Biase, Irene; Champaigne, Neena Lorenzana; Schroer, Richard; Pollard, Laura Malinda; Longo, Nicola; Wood, Tim

    2012-01-01

    Primary carnitine deficiency (PCD) is an autosomal recessive disorder of fatty acid oxidation caused by mutations in the SLC22A5 gene encoding for the carnitine transporter OCTN2. Carnitine uptake deficiency results in renal carnitine wasting and low plasma levels. PCD usually presents early in life either with acute metabolic crisis or as progressive cardiomyopathy that responds to carnitine supplementation. PCD inclusion in the newborn screening (NBS) programs has led to the identification of asymptomatic adult patients ascertained because of a positive NBS in their offspring. We extensively reviewed the literature and found that 15 of 42 adult published cases (35.7%) were symptomatic. Cardiac arrhythmias were present in five patients (12%). Here, we report the ascertainment and long-term follow-up of the first case of PCD presenting with long QT syndrome. The patient presented in her early twenties with a syncopal episode caused by ventricular tachycardia, and a prolonged QT interval. Arrhythmias were poorly controlled by pharmacologic therapy and a defibrillator was installed. Syncopal episodes escalated during her first pregnancy. A positive NBS in the patient's child suggested a carnitine uptake deficiency, which was confirmed by reduced carnitine transporter activity and by molecular testing. After starting carnitine supplementation, no further syncopal episodes have occurred and the QT interval returned to normal. As precaution, a low-dose metoprolol therapy and the defibrillator are still in place. Although rare, PCD should be ruled out as a cause of cardiac arrhythmias since oral carnitine supplementation is readily available and efficient. PMID:23430858

  13. Acute lymphoblastic leukemia and lymphoma in the context of constitutional mismatch repair deficiency syndrome.

    PubMed

    Ripperger, Tim; Schlegelberger, Brigitte

    2016-03-01

    Constitutional mismatch repair deficiency (CMMRD) syndrome is one of the rare diseases associated with a high risk of cancer. Causative mutations are found in DNA mismatch repair genes PMS2, MSH6, MSH2 or MLH1 that are well known in the context of Lynch syndrome. CMMRD follows an autosomal recessive inheritance trait and is characterized by childhood brain tumors and hematological malignancies as well as gastrointestinal cancer in the second and third decades of life. There is a high risk of multiple cancers, occurring synchronously and metachronously. In general, the prognosis is poor. About one third of CMMRD patients develop hematological malignancies as primary (sometimes the only) malignancy or as secondary neoplasm. T-cell non-Hodgkin lymphomas, mainly of mediastinal origin, are the most frequent hematological malignancies. Besides malignant diseases, non-neoplastic features are frequently observed, e.g. café-au-lait spots sometimes resembling neurofibromatosis type I, hypopigmented skin lesions, numerous adenomatous polyps, multiple pilomatricomas, or impaired immunoglobulin class switch recombination. Within the present review, we summarize previously published CMMRD patients with at least one hematological malignancy, provide an overview of steps necessary to substantiate the diagnosis of CMMRD, and refer to the recent most relevant literature. PMID:26743104

  14. Hypokalemic paralysis as a presenting manifestation of primary Sjögren's syndrome accompanied by vitamin D deficiency.

    PubMed

    Liao, Chen-Yi; Wang, Chih-Chiang; Chen, I-Hung; Shiang, Jeng-Chuan; Liu, Mei-Yu; Tsai, Ming-Kai

    2013-01-01

    Primary Sjögren's syndrome (pSS) is a chronic autoimmune disease characterized by progressive lymphocyte infiltration of the exocrine glands. Overt or latent renal tubular acidosis (RTA) is a common extraglandular manifestation of pSS.Vitamin D deficiency is associated with autoimmune disorders; however, the potential correlation between pSS and vitamin D deficiency is rarely discussed. The current patient presented with distal RTA, hypocalcemia, and hypophosphatemia that were found to be secondary to both vitamin D deficiency and pSS. In patients diagnosed with both distal RTA and vitamin D deficiency, clinicians should consider autoimmune diseases such as pSS, as a possible underlying etiology. PMID:24126399

  15. 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…

  16. 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…

  17. 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)

  18. 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…

  19. 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…

  20. The Impact of a Credit Course on AIDS at the Collegiate Level.

    ERIC Educational Resources Information Center

    Fennell, Reginald

    1990-01-01

    Developed, implemented, and investigated course on Acquired Immune Deficiency Syndrome (AIDS) to determine effectiveness of different teaching methods on increasing knowledge and decreasing negative attitudes toward AIDS and homosexuality. Results revealed that course participants (N=63) increased knowledge of AIDS and adopted more positive…

  1. 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…

  2. AIDS: Workplace Issues. INFO-LINE. Practical Guidelines for Training and Development Professionals. Issue 9208.

    ERIC Educational Resources Information Center

    American Society for Training and Development, Alexandria, VA.

    Practical guidelines are presented for training and development professionals dealing with acquired immune deficiency syndrome (AIDS) in the workplace. The following topics are covered: AIDS in the workplace; AIDS basics, including information on the required corporate commitment and transmission of human immunodeficiency virus (HIV); employment…

  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. 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. HIV and Mental Health Institutions. AIDS Technical Report, No. 4.

    ERIC Educational Resources Information Center

    Harvey, David C.

    This technical report is part of a series on AIDS/HIV (Acquired Immune Deficiency Syndrome/Human Immunodeficiency Virus) and is intended to help link various legal advocacy organizations providing services to persons with mental illness or developmental disabilities. This paper examines AIDS policy issues in mental health institutions. The paper…

  6. Introduction: Psychosocial Aspects of AIDS Prevention among African Americans.

    ERIC Educational Resources Information Center

    Belgrave, Faye Z.; Randolph, Suzanne M.

    1993-01-01

    Articles in this special issue are devoted to psychosocial aspects of Acquired Immune Deficiency Syndrome (AIDS) prevention in the African-American community. The core assumption is that the values, beliefs, and world views of people of African descent must be understood for AIDS prevention to be effective. (SLD)

  7. 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…

  8. 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…

  9. 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…

  10. 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)…

  11. 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)

  12. 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…

  13. How They Handle It: Young Canadians, Sex, and AIDS.

    ERIC Educational Resources Information Center

    Hobart, Charles

    1992-01-01

    Describes how young unmarried Canadians cope with sexuality in the era of Acquired Immune Deficiency Syndrome (AIDS). Responses of 1,775 Anglophone and 493 Francophone college students in Canada indicate that those who are most aware of the risks of AIDS are also the most careless in putting themselves at risk. (SLD)

  14. 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…

  15. Countertransference Issues in Working with Persons with AIDS.

    ERIC Educational Resources Information Center

    Dunkel, Joan; Hatfield, Shellie

    1986-01-01

    In the Acquired Immune Deficiency Syndrome (AIDS) epidemic, social workers must interact with numerous systems-persons diagnosed with AIDS and their friends and families and human services agencies. Subsequently, workers must deal with their responses to such interaction, including countertransference. Eight countertransference issues and…

  16. 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…

  17. 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…

  18. 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…

  19. School-Based HIV-AIDS Education in Canada.

    ERIC Educational Resources Information Center

    Allan, Margaret C.

    Health and education matters in Canada are the responsibility of the government of each individual province. These opportunities for improvement in the Canadian system regarding Acquired Immune Deficiency Syndrome (AIDS) education exist. First, a nationally standardized curriculum is needed. Second, more time allocated for AIDS education is…

  20. Teaching an AIDS Course from a Medical Sociology Perspective.

    ERIC Educational Resources Information Center

    Campbell, Carole A.

    1992-01-01

    A sociology course on Acquired Immune Deficiency Syndrome (AIDS) and its societal context, taught at California State University, Long Beach, is described. The background, content, organization, administrative and emotional demands, teaching methods (including input from patients with AIDS), texts, and impact of the interdisciplinary course are…

  1. AIDS in Rural Areas: Challenges to Providing Care.

    ERIC Educational Resources Information Center

    Rounds, Kathleen A.

    1988-01-01

    Examined the development and provision of social services to persons with Acquired Immune Deficiency Syndrome (AIDS) and their families in rural areas and barriers to the delivery of care. Subjects (N=15) were persons who coordinated or provided services to AIDS victims. Found structural factors, confidentiality, fear of contagion, and homophobia…

  2. Percutaneous needle lung aspiration for diagnosing pneumonitis in the patient with acquired immunodeficiency syndrome (AIDS).

    PubMed

    Wallace, J M; Batra, P; Gong, H; Ovenfors, C O

    1985-03-01

    Fourteen patients with acquired immunodeficiency syndrome (AIDS) or suspected AIDS underwent percutaneous needle lung aspiration (PNLA) for evaluation of 16 occurrences of acute pneumonitis. A 22-gauge spinal needle was passed 2 to 3 times in the area of greatest radiographic involvement under fluoroscopic guidance. The specimen was immediately placed on microscope slides for Gomori's methenamine silver and Papanicolaou staining. The needle was then flushed with sterile water for bacterial, Legionella, viral, mycobacterial, and fungal cultures, and for Legionella immunofluorescent staining. Diagnostic information was provided by 14 of the 16 procedures. Of 11 patients ultimately found to have P. carinii pneumonitis, PNLA specimens were diagnostic in 10 (91%). Infectious agents other than P. carinii also were identified by PNLA, including cytomegalovirus (4 cases), M. avium-intracellulare (1 case), and pyogenic bacteria (3 cases). Complications of PNLA were: pneumothorax in 7 cases (44%), 3 (19%) of which required chest tube evacuation; and minor hemoptysis (less than 50 ml) in 2. The PNLA can be a useful diagnostic procedure in the patient with AIDS and pneumonitis. It has the advantages of being less costly and time-consuming than fiberoptic bronchoscopy. It is, however, frequently complicated by pneumothorax, making it an inappropriate approach for patients with significant respiratory compromise. PMID:3872089

  3. 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…

  4. Stigma, HIV and AIDS: An Exploration and Elaboration of the Illness Trajectory Surrounding HIV Infection and AIDS.

    ERIC Educational Resources Information Center

    Alonzo, Angelo A.; Reynolds, Nancy R.

    In this paper, human immunodeficiency virus (HIV) and Acquired Immune Deficiency Syndrome (AIDS) are analyzed in terms of stigma and illness trajectory. The primary purpose is to conceptualize how individuals with HIV/AIDS experience stigma and to demonstrate how these experiences are affected by the social and biophysical dimensions of the…

  5. 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. PMID:26694631

  6. White Monkey Syndrome and Presumptive Copper Deficiency in Wild Savannah Baboons

    PubMed Central

    Markham, A. Catherine; Gesquiere, Laurence R.; Bellenger, Jean-Philippe; Alberts, Susan C.; Altmann, Jeanne

    2012-01-01

    In immature wild savannah baboons (Papio cynocephalus), we observed symptoms consistent with copper (Cu) deficiency and, more specifically, with a disorder referred to as white monkey syndrome (WMS) in laboratory primates. The objectives of this study were to characterize this pathology and test three hypotheses – that Cu deficiency may have been induced by zinc (Zn) toxicity, that it may have been induced by molybdenum (Mo) toxicity, and that cumulative rainfall during the perinatal period and particularly during gestation is an ecological factor distinguishing infants afflicted with WMS from non-WMS infants. During 2001–09, we observed 22 instances of WMS out of a total 377 live-births in the study population. Visible symptoms exhibited by WMS infants included whitening of the animal’s fur and/or impaired mobility characterized by an apparent “stiffening” of the hindlimbs. Occurrence of WMS did not vary significantly by gender. However, among individuals that survived at least 180 days, WMS males had a significantly lower survivorship probability than non-WMS males. Zn/Cu ratios assessed from hair samples of adult female baboons were higher in females who had produced at least one WMS offspring relative to females who had not had a WMS offspring. This was true even when the hair sample was collected long after the birth of the female’s afflicted infant. We consider this potentially indicative of a robust tendency for low Cu levels induced by elevated Zn intake in some individuals. No significant differences of Mo/Cu ratios were observed. Cumulative rainfall during gestation (~179 days) was 50% lower for WMS infants relative to non-WMS infants. In contrast, rainfall for the two classes of infants did not differ in the 180 days prior to conception or in the 180 days following birth. This finding highlights the importance of prenatal ecological conditions in healthy fetal development with regard to WMS. PMID:21898510

  7. Sclerostin Inhibition Reverses Skeletal Fragility in an Lrp5-Deficient Mouse Model of OPPG Syndrome

    PubMed Central

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

    2014-01-01

    Osteoporosis pseudoglioma syndrome (OPPG) is a rare genetic disease that produces debilitating effects in the skeleton. OPPG is caused by mutations in LRP5, a WNT co-receptor that mediates osteoblast activity. WNT signaling through LRP5, and also through the closely related receptor LRP6, is inhibited by the protein sclerostin (SOST). It is unclear whether OPPG patients might benefit from the anabolic action of sclerostin neutralization therapy (an approach currently being pursued in clinical trials for postmenopausal osteoporosis) in light of their LRP5 deficiency and consequent osteoblast impairment. To assess whether loss of sclerostin is anabolic in OPPG, we measured bone properties in a mouse model of OPPG (Lrp5−/−), a mouse model of sclerosteosis (Sost−/−), and in mice with both genes knocked out (Lrp5−/−;Sost−/−). Lrp5−/−;Sost−/− mice have larger, denser, and stronger bones than do Lrp5−/− mice, indicating that SOST deficiency can improve bone properties via pathways that do not require LRP5. Next, we determined whether the anabolic effects of sclerostin depletion in Lrp5−/− mice are retained in adult mice by treating 17-week-old Lrp5−/− mice with a sclerostin antibody for 3 weeks. Lrp5+/+ and Lrp5−/− mice each exhibited osteoanabolic responses to antibody therapy, as indicated by increased bone mineral density, content, and formation rates. Collectively, our data show that inhibiting sclerostin can improve bone mass whether LRP5 is present or not. In the absence of LRP5, the anabolic effects of SOST depletion can occur via other receptors (such as LRP4/6). Regardless of the mechanism, our results suggest that humans with OPPG might benefit from sclerostin neutralization therapies. PMID:24225945

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

    PubMed

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

    2016-03-01

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

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

    PubMed Central

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

    1992-01-01

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

  10. Therapeutic Efficacy and Safety of GH in Japanese Children with Down Syndrome Short Stature Accompanied by GH Deficiency

    PubMed Central

    Meguri, Kyoko; Inoue, Masaru; Narahara, Koji; Sato, Takahiro; Takata, Ami; Ohki, Nobuhiko; Ozono, Keiichi

    2013-01-01

    In this study, we investigated the effects of GH treatment in children with Down syndrome who had been diagnosed with GH deficiency (GHD). A total of 20 subjects were investigated in this study. Fourteen Down syndrome children (5 boys and 9 girls) with short stature due to GHD were treated with GH at Okayama Red Cross General Hospital, and 6 Down syndrome children (4 boys and 2 girls) with short stature due to GHD were registered in the Pfizer International Growth Database (KIGS). Height SD score (SDS) increased throughout the three-year GH treatment period. The overall mean height SDS increased from –3.5 at baseline to –2.5 after 3 yr of treatment. The mean change in height SDS during these 3 yr was 1.1. In addition, height assessment of SD score based on Down syndrome-specific growth data in the Japanese population revealed that the height SDS (Down syndrome) also increased across the 3-yr GH treatment period. The mean change in height SDS (Down syndrome) during these three years was 1.3. GH therapy was effective for Down syndrome short stature accompanied by GHD, and no new safety concerns were found in this study. PMID:24170963

  11. Type IX Ehlers-Danlos syndrome and Menkes syndrome: the decrease in lysyl oxidase activity is associated with a corresponding deficiency in the enzyme protein.

    PubMed Central

    Kuivaniemi, H; Peltonen, L; Kivirikko, K I

    1985-01-01

    Type IX of the Ehlers-Danlos syndrome (E-D IX) and the Menkes syndrome are X-linked recessively inherited disorders characterized by abnormalities in copper metabolism. These abnormalities are associated with a severe reduction in the activity of lysyl oxidase, the extracellular copper enzyme that initiates crosslinking of collagens and elastin. No increase in this deficient enzyme activity was obtained when culture media from fibroblasts of patients with E-D IX or the Menkes syndrome were incubated with copper under various conditions in vitro. A distinct, although small, increase in lysyl oxidase activity was obtained, however, when copper-supplemented media were used during culturing of the fibroblasts, although even under these conditions, the enzyme activity in the media from the affected cells remained markedly below that of the controls. Immunoprecipitation, dot-blotting, and immunoperoxidase staining experiments with antisera to human lysyl oxidase indicated that fibroblasts from patients with E-D IX or the Menkes syndrome do not secrete into their medium, or contain inside the cell, any significant amounts of a copper-deficient, catalytically inactive lysyl oxidase protein. These findings appear to be consistent with the hypothesis that synthesis of the lysyl oxidase protein itself is impaired. The possibility is not excluded, however, that a copper-deficient enzyme protein may be synthesized in normal amounts but become degraded very rapidly inside the cell. The failure to obtain any large increase in the deficient lysyl oxidase activity upon various forms of copper administration suggests that it may not be possible to obtain any significant improvement in the connective tissue manifestations of these disorders by copper therapy. Images Fig. 1 Fig. 2 PMID:9556668

  12. A young man with hyperimmunoglobulin-E syndrome and IgA and IgG deficiencies.

    PubMed

    Fuller, K; Pearce, A; Raftos, J

    2007-07-01

    Hyperimmunoglobulin E syndrome (HIES) with recurrent infection is a rare primary immunodeficiency characterized by the clinical triad of recurrent staphylococcal abscesses, cyst-forming pneumonia and an elevated serum immunoglobulin (Ig)E level. We report an 18-year-old man with recurrent chest infections, skin infections and dermatitis. On examination, he had the characteristic facies of HIES: high arched palate, webbing between his thumb and index finger bilaterally, and extensive scarring from multiple staphylococcal skin abscesses. He had an elevated IgE level of 14 300 kU/L. IgA and IgG deficiencies were also identified, which are rare associations of this syndrome and complicated the patient's treatment. The coexistence of HIES, IgA and IgG deficiencies has, to our knowledge, not been reported previously in the literature. PMID:17362234

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

    PubMed

    Zou, Wen; Wang, Jian; Liu, Ying

    2016-01-01

    To respond to the human immunodeficiency virus (HIV)/acquired immune deficiency syndrome (AIDS) epidemic in China, the integration of antiretroviral therapy (ART) and traditional Chinese medicine (TCM) has important implications in health outcomes, especially in China where the use of TCM is widespread. The National Free TCM Pilot Program for HIV Infected People began in 5 provinces (Henan, Hebei, Anhui, Hubei, and Guangdong) in 2004, and quickly scaled up to 19 provinces, autonomous regions, and municipalities in China including some places with high prevalence, 26,276 adults have been treated thus far. Usually, people with HIV infection seek TCM for four main reasons: to enhance immune function, to treat symptoms, to improve quality of life, and to reduce side effects related to medications. Evidences from randomized controlled clinical trials suggested some beneficial effects of use of traditional Chinese herbal medicine for HIV infections and AIDS. More proofs from large, well-designed, rigorous trials is needed to give firm support. Challenges include interaction between herbs and antiretroviral drugs, stigma and discrimination. The Free TCM Program has made considerable progress in providing the necessary alternative care and treatment for HIV-infected people in China, and has strong government support for continued improvement and expansion, establishing and improving a work mechanism integrating Chinese and Western medicines. PMID:26577109

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

    PubMed

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

    2015-05-01

    Ehlers-Danlos syndrome (EDS) is a clinically and genetically heterogeneous disorder. Using a customized targeted exome-sequencing system we identified nonsense mutations in TNXB in a patient who had recurrent gastrointestinal perforation due to tissue fragility. This case highlights the utility of targeted exome sequencing for the diagnosis of congenital diseases showing genetic heterogeneity, and the importance of attention to gastrointestinal perforation in patients with tenascin-X deficient type EDS. PMID:25772043

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

    PubMed Central

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

    2015-01-01

    Entry of acquired immune deficiency syndrome virus into the host immune cell involves the participation of various components of host and viral cell unit. These components may be categorized as attachment of the viral surface envelope protein subunit, gp120, to the CD4+ receptor and chemokine coreceptors, CCR5 and CXCR4, present on T cell surface. The viral fusion protein, gp41, the second cleaved subunit of Env undergoes reconfiguration and the membrane fusion reaction itself. Since the CD4+ T cell population is actively involved; the ultimate outcome of human immunodeficiency virus infection is total collapse of the host immune system. Mathematical modeling of the stages in viral membrane protein-host cell receptor-coreceptor interaction and the effect of antibody vaccine on the viral entry into the susceptible host cell has been carried out using as impulsive differential equations. We have studied the effect of antibody vaccination and determined analytically the threshold value of drug dosage and dosing interval for optimum levels of infection. We have also investigated the effect of perfect adherence of drug dose on the immune cell count in extreme cases and observed that systematic drug dosage of the immune cells leads to longer and improved lives. PMID:26568917

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

    PubMed

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

    2014-03-01

    Glucose transporter 1 deficiency syndrome (GLUT1-DS) is a treatable metabolic encephalopathy caused by a mutation in the SLC2A1 gene. This mutation causes a compromised transport of glucose across the blood-brain barrier. The treatment of choice is ketogenic diet, with which most patients become seizure-free. At the National Centre for Epilepsy, we have, since 2005, offered treatment with ketogenic diet (KD) and modified Atkins diet (MAD) to children with difficult-to-treat epilepsy. As we believe many children with GLUT1-DS are unrecognized, the aim of this study was to search for patients with GLUT1-DS among those who had been responders (>50% reduction in seizure frequency) to KD or MAD. Of the 130 children included, 58 (44%) were defined as responders. Among these, 11 were already diagnosed with GLUT1-DS. No mutations in the SLC2A1 gene were detected in the remaining patients. However, the clinical features of these patients differed considerably from the patients diagnosed with GLUT1-DS. While 9 out of 10 patients with GLUT1-DS became seizure-free with dietary treatment, only 3 out of the 33 remaining patients were seizure-free with KD or MAD treatment. We therefore conclude that a seizure reduction of >50% following dietary treatment is not a suitable criterion for identifying patients with GLUT1-DS, as these patients generally achieve complete seizure freedom shortly after diet initiation. PMID:24508593

  17. Risk factor analysis among men referred for possible acquired immune deficiency syndrome.

    PubMed

    Newell, G R; Mansell, P W; Wilson, M B; Lynch, H K; Spitz, M R; Hersh, E M

    1985-01-01

    Responses to a lifestyle questionnaire among 13 patients with Kaposi's sarcoma and 18 with an opportunistic infection were compared with those of 29 symptom-free referred individuals. Odds ratios (OR) with 95% confidence limits were calculated as an estimate of risk. Significantly elevated odds ratios (P less than 0.05) were found for cigarette smoking (OR = 3.4), marijuana use (OR = 3.7), nitrite use (OR = 5.5), frequenting bathhouses (OR = 7.6), prior syphilis (OR = 3.4), and fist-rectal sexual practices (OR = 3.5). A response gradient for the risk estimates was found for marijuana use (OR = 2.7 for occasional, OR = 4.3 for frequent use); nitrites (OR = 4.0 for occasional; OR = 6.3 for frequent use); and prior syphilis (OR = 2.9 for one to two previous infections and 9.0 for three or more). We believe the evidence is now sufficient to recommend preventive practices which may reduce the male homosexual's risk for developing acquired immune deficiency syndrome, Kaposi's sarcoma, and/or opportunistic infections. These include cessation of cigarette smoking, marijuana use, and nitrite inhalation; reduction in number of anonymous sexual partners to decrease risk of sexually transmitted diseases; and avoidance of fisting. PMID:3839923

  18. Hyperimmunoglobulin syndrome due to CD40 deficiency: Possibly the first case from India

    PubMed Central

    Mishra, A; Italia, K; Gupta, M; Desai, M; Madkaikar, M

    2015-01-01

    Hyperimmunoglobulin M (HIGM) type 3 due to CD40 deficiency is a very rare syndrome. Only 16 cases have been reported thus far. The clinical presentation is very variable. We present the first case of this rare disorder from India. The case is of a two-and-a-half-year-old female, with a history of repeated episodes of skin infections and diarrhea since birth. Laboratory evaluation revealed elevated absolute lymphocyte count and an absolute neutrophil count (ANC) of 1026/mm3. The lymphocyte subset analysis showed normal absolute counts of Natural Killer (NK) cells and elevated absolute counts of T-cells (CD4 and CD8) and B-cells. The serum immunoglobulin estimation showed low levels of IgG, IgA, IgE and an elevated level of IgM. The CD154 analysis was normal and expression of CD40 was absent on the B-cells. Molecular analysis showed a novel mutation, with deletion of 3bp (AAG) [p.Glu107GlyfsX84] in the homozygous state, in the CD40 gene. Thus the patient was diagnosed as HIGM type 3. The parents were screened and counseled regarding prenatal diagnosis at the time of next pregnancy. PMID:25511220

  19. Reward Deficiency Syndrome: Attentional/Arousal Subtypes, Limitations of Current Diagnostic Nosology, and Future Research

    PubMed Central

    2015-01-01

    We theorise that in some cases Attention Deficit Hyperactivity Disorder (ADHD) predisposes to narcolepsy and hypersomnia, and that there may be a shared pathophysiology with various addictions [Reward Deficiency Syndrome (RDS)]. Reticence to acknowledge such connections may be due to a narrow nosological framework. Additionally, we theorise that the development of narcolepsy on a baseline of ADHD/RDS leads to an additional assault on the dopaminergic reward system in such individuals. In this study, we propose to test these hypotheses by using a combination of broad genetic screening, and neuroimaging with and without pharmacological intervention, in those with pure ADHD, pure narcolepsy, and the combined ADHD-narcolepsy phenotype. Results of this proposed study may reveal a common pathophysiology of ADHD, narcolepsy and RDS, and perhaps an additional compromise to the reward system in those with combined ADHD-narcolepsy. If the evidence supports the hypothesis that indeed there is a shared pathophysiology for narcolepsy with RDS and thus its subtype ADHD, early intervention/preventative treatment amongst those with ADHD may be beneficial with the putative dopaminergic compound KB220Z™. PMID:26306327

  20. Down syndrome and arterial ischemic stroke in childhood: a potential immunologic link with selective IgG4 subclass deficiency.

    PubMed

    Pavone, Piero; Falsaperla, Raffaele; De Silva, Kasun; Taibi, Rosaria; Verrotti, Alberto; Trifiletti, Rosario R; Vitaliti, Giovanna

    2014-07-01

    We report four children with Down Syndrome (DS) without evidence of congenital heart disease who sustained cerebral infarction in the context of an infectious disease. In one child, stroke occurred in the context of acute infection with Mycoplasma pneumonia. In another child, stroke occurred in the context of Streptococcus oralis (viridans subgroup) infection. In two other children, stroke occurred in the context of a bibasilar pneumonia for which an etiologic agent was not found. All patients had evidence of selective IgG4 subclass deficiency. We followed 8 other children with down syndrome with infectious diseases, but without stroke and a control group of healthy children, and measured the value of IgG4 for each group. We found a statistical significant difference of levels of IgG4 subclass deficiency in the group of stroke, in comparison with the other two groups (P values <0.001). We, therefore, suggest an association between IgG4 subclass deficiency and stroke in DS patients. IgG4 subclass deficiency could conceivably play a role in the high frequency of para-infectious related stroke in this population. PMID:24613243

  1. 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…

  2. AIDS-Related Factors Predictive of Suicidal Ideation of Low and High Intent among Gay and Bisexual Men.

    ERIC Educational Resources Information Center

    Schneider, Stephen G.; And Others

    1991-01-01

    Studied Acquired Immune Deficiency Syndrome (AIDS)-related stressors and suicidal ideation/intent among 778 gay and bisexual men (none with AIDS). Compared to those who reported no suicidal ideation over past six months, those who reported ideation (n=212) were more likely to report recent bereavement of partner, AIDS-Related Disorder (ARC)…

  3. The Acquired Immune Deficiency Syndrome (AIDS)—A Multidisciplinary Enigma

    PubMed Central

    1984-01-01

    These discussions are selected from the weekly staff conferences in the Department of Medicine, University of California, San Francisco. Taken from transcriptions, they are prepared by Drs Homer A. Boushey, Associate Professor of Medicine, and David G. Warnock, Associate Professor of Medicine, under the direction of Dr Lloyd H. Smith, Jr, Professor of Medicine and Chairman of the Department of Medicine. Requests for reprints should be sent to the Department of Medicine, University of California, San Francisco, School of Medicine, San Francisco, CA 94143. PMID:6702195

  4. Helping Parents Communicate Effectively with Children about Preventing Acquired Immune Deficiency Syndrome (AIDS).

    ERIC Educational Resources Information Center

    Umeh, David C.

    1995-01-01

    Describes a communication activities workshop designed to improve communication skills on any subject. The workshop involves discussing the five critical steps in effective communication, then, in groups, practicing and presenting an improved performance which the other groups evaluate. A parent-child scenario on sexual promiscuity is included.…

  5. Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency

    PubMed Central

    2013-01-01

    Background 22q13 deletion syndrome, also known as Phelan-McDermid syndrome, is a neurodevelopmental disorder characterized by intellectual disability, hypotonia, delayed or absent speech, and autistic features. SHANK3 has been identified as the critical gene in the neurological and behavioral aspects of this syndrome. The phenotype of SHANK3 deficiency has been described primarily from case studies, with limited evaluation of behavioral and cognitive deficits. The present study used a prospective design and inter-disciplinary clinical evaluations to assess patients with SHANK3 deficiency, with the goal of providing a comprehensive picture of the medical and behavioral profile of the syndrome. Methods A serially ascertained sample of patients with SHANK3 deficiency (n = 32) was evaluated by a team of child psychiatrists, neurologists, clinical geneticists, molecular geneticists and psychologists. Patients were evaluated for autism spectrum disorder using the Autism Diagnostic Interview-Revised and the Autism Diagnostic Observation Schedule-G. Results Thirty participants with 22q13.3 deletions ranging in size from 101 kb to 8.45 Mb and two participants with de novo SHANK3 mutations were included. The sample was characterized by high rates of autism spectrum disorder: 27 (84%) met criteria for autism spectrum disorder and 24 (75%) for autistic disorder. Most patients (77%) exhibited severe to profound intellectual disability and only five (19%) used some words spontaneously to communicate. Dysmorphic features, hypotonia, gait disturbance, recurring upper respiratory tract infections, gastroesophageal reflux and seizures were also common. Analysis of genotype-phenotype correlations indicated that larger deletions were associated with increased levels of dysmorphic features, medical comorbidities and social communication impairments related to autism. Analyses of individuals with small deletions or point mutations identified features related to SHANK3 haploinsufficiency

  6. Training Volunteers for an AIDS Buddy Program.

    ERIC Educational Resources Information Center

    Ojanlatva, Ansa; And Others

    In 1986, the Baton Rouge Acquired Immune Deficiency Syndrome (AIDS) Task Force began to implement an individual volunteer support program to provide support services through a companion, a buddy, whose functions would be either emotional support or assistance in daily activities, or both. In order to have trained volunteers, an education program…

  7. 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…

  8. 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…

  9. The U.S. and AIDS Research.

    ERIC Educational Resources Information Center

    Burd, Stephen

    1994-01-01

    Despite key changes in the federal Acquired Immune Deficiency Syndrome (AIDS) research program, activists and some scientists are frustrated that not enough has been done and the actions taken have not had sufficient impact on the problem. Controversy over basic vs. clinical-trial research persists. (MSE)

  10. AIDS, Contact Notification, and Public Policy.

    ERIC Educational Resources Information Center

    Dejowski, Edmund F.

    The concept of contact tracing and notification once used for sexually transmitted diseases (STDs) is being mentioned for Acquired Immune Deficiency Syndrome (AIDS). Some professional organizations have supported contact notification; others have opposed it. Initially, states were free to establish their own contact notification programs. More…

  11. SAFE: Stopping AIDS through Functional Education.

    ERIC Educational Resources Information Center

    Hylton, Judith

    This functional curriculum is intended to teach people with developmental disabilities or other learning problems how to prevent infection with HIV/AIDS (Human Immunodeficiency Virus/Acquired Immune Deficiency Syndrome). The entire curriculum includes six video segments, four illustrated brochures, 28 slides and illustrations, as well as a guide…

  12. 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…

  13. 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…

  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. 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)

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

    PubMed Central

    Rebouche, C J; Engel, A G

    1984-01-01

    The human primary carnitine deficiency syndromes are potentially fatal disorders affecting children and adults. The molecular etiologies of these syndromes have not been determined. In this investigation, we considered the hypothesis that these syndromes result from defective transport of carnitine into tissues, particularly skeletal muscle. The problem was approached by mathematical modeling, by using the technique of kinetic compartmental analysis. A tracer dose of L-[methyl-3H]carnitine was administered intravenously to six normal subjects, one patient with primary muscle carnitine deficiency (MCD), and four patients with primary systemic carnitine deficiency (SCD). Specific radioactivity was followed in plasma for 28 d. A three-compartment model (extracellular fluid, muscle, and "other tissues") was adopted. Rate constants, fluxes, pool sizes, and turnover times were calculated. Results of these calculations indicated reduced transport of carnitine into muscle in both forms of primary carnitine deficiency. However, in SCD, the reduced rate of carnitine transport was attributed to reduced plasma carnitine concentration. In MCD, the results are consistent with an intrinsic defect in the transport process. Abnormal fluctuations of the plasma carnitine, but of a different form, occurred in MCD and SCD. The significance of these are unclear, but in SCD they suggest abnormal regulation of the muscle/plasma carnitine concentration gradient. In 8 of 11 subjects, carnitine excretion was less than dietary carnitine intake. Carnitine excretion rates calculated by kinetic compartmental analysis were higher than corresponding rates measured directly, indicating degradation of carnitine. However, we found no radioactive metabolites of L-[methyl-3H]carnitine in urine. These observations suggest that dietary carnitine was metabolized in the gastrointestinal tract. PMID:6707204

  17. AID-deficient Bcl-xL transgenic mice develop delayed atypical plasma cell tumors with unusual Ig/Myc chromosomal rearrangements.

    PubMed

    Kovalchuk, Alexander L; duBois, Wendy; Mushinski, Elizabeth; McNeil, Nicole E; Hirt, Carsten; Qi, Chen-Feng; Li, Zhaoyang; Janz, Siegfried; Honjo, Tasuku; Muramatsu, Masamichi; Ried, Thomas; Behrens, Timothy; Potter, Michael

    2007-11-26

    Activation-induced cytidine deaminase (AID) is required for immunoglobulin (Ig) class switch recombination and somatic hypermutation, and has also been implicated in translocations between Ig switch regions and c-Myc in plasma cell tumors in mice. We asked if AID is required for accelerated tumor development in pristane-treated Bcl-xL transgenic BALB/c mice deficient in AID (pBxAicda-/-). pBxAicda-/- mice developed tumors with a lower frequency (24 vs. 62%) and a longer mean latency (108 vs. 36 d) than AID-sufficient mice. The tumors appeared in oil granuloma tissue and did not form ascites. By interphase fluorescence in situ hybridization, six out of nine pBxAicda-/- primary tumors had T(12;15) and one had T(6;15) chromosomal translocations. Two tumors were transplantable and established as stable cell lines. Molecular and cytogenetic analyses showed that one had an unusual unbalanced T(12;15) translocation, with IgH Cmu and Pvt-1 oriented head to tail at the breakpoint, resulting in an elevated expression of c-Myc. In contrast, the second was T(12;15) negative, but had an elevated N-Myc expression caused by a paracentric inversion of chromosome 12. Thus, novel mechanisms juxtapose Ig and Myc-family genes in AID-deficient plasma cell tumors. PMID:17998390

  18. Deficient EBV-Specific B- and T-Cell Response in Patients with Chronic Fatigue Syndrome

    PubMed Central

    Giannini, Carolin; Koelsch, Uwe; Bauer, Sandra; Doebis, Cornelia; Thomas, Sybill; Unterwalder, Nadine; von Baehr, Volker; Reinke, Petra; Knops, Michael; Hanitsch, Leif G.; Meisel, Christian; Volk, Hans-Dieter; Scheibenbogen, Carmen

    2014-01-01

    Epstein-Barr virus (EBV) has long been discussed as a possible cause or trigger of Chronic Fatigue Syndrome (CFS). In a subset of patients the disease starts with infectious mononucleosis and both enhanced and diminished EBV-specific antibody titers have been reported. In this study, we comprehensively analyzed the EBV-specific memory B- and T-cell response in patients with CFS. While we observed no difference in viral capsid antigen (VCA)-IgG antibodies, EBV nuclear antigen (EBNA)-IgG titers were low or absent in 10% of CFS patients. Remarkably, when analyzing the EBV-specific memory B-cell reservoir in vitro a diminished or absent number of EBNA-1- and VCA-antibody secreting cells was found in up to 76% of patients. Moreover, the ex vivo EBV-induced secretion of TNF-α and IFN-γ was significantly lower in patients. Multicolor flow cytometry revealed that the frequencies of EBNA-1-specific triple TNF-α/IFN-γ/IL-2 producing CD4+ and CD8+ T-cell subsets were significantly diminished whereas no difference could be detected for HCMV-specific T-cell responses. When comparing EBV load in blood immune cells, we found more frequently EBER-DNA but not BZLF-1 RNA in CFS patients compared to healthy controls suggesting more frequent latent replication. Taken together, our findings give evidence for a deficient EBV-specific B- and T-cell memory response in CFS patients and suggest an impaired ability to control early steps of EBV reactivation. In addition the diminished EBV response might be suitable to develop diagnostic marker in CFS. PMID:24454857

  19. Reducing Incapacitating Symptoms during Space Flight: is Postural Deficiency Syndrome an Applicable Model?

    PubMed Central

    Souvestre, P A; Landrock, C K; Blaber, A P

    2008-01-01

    Severe and prolonged unmitigated SAS and SMS related symptoms have been thoroughly described in Astronauts during adaptation periods for orbital flight and post orbital flight. It has recently been shown that there is a strong correlation between these symptoms most often suffered by astronauts to that of the symptoms of patients suffering from Postural Deficiency Syndrome (PDS) on Earth that have been successfully assessed, diagnosed and treated. International peer-reviewed literature identifies PDS as a trauma induced medical condition which originates from central neural dysregulation of sensory-motor and cognitive controls; these dysfunctions can be accurately identified, measured, and monitored via a specific ocular-vestibular-postural monitoring system along with relevant clinical data. This higher level of understanding is necessary in order to reach the next stage of success for humans living and working in Space. Central sensory-motor and cognitive controls dysfunction underlie symptoms that can adversely impact and reflect alteration of eye-hand coordination, fine tuned dexterity, body positioning in space, space projection and trajectory control, perception of environment/obstacles, orientation in space and time, sensory motor and cognitive aspects of decision making, sensory-motor/cognitive error proneness. All of these factors are necessary for Astronaut's mission capabilities, while both carrying out operations in Space and performing the tasks required during and after re-entry. The objective of this paper is to elucidate how PDS related medical conditions are currently assessed, identified and monitored, and how these methodologies and technologies translate into a potential for better understanding of astronauts' potential incapacitation during space flight operations. PMID:19048092

  20. "Liking" and "wanting" linked to Reward Deficiency Syndrome (RDS): hypothesizing differential responsivity in brain reward circuitry.

    PubMed

    Blum, Kenneth; Gardner, Eliot; Oscar-Berman, Marlene; Gold, Mark

    2012-01-01

    In an attempt to resolve controversy regarding the causal contributions of mesolimbic dopamine (DA) systems to reward, we evaluate the three main competing explanatory categories: "liking,"learning," and "wanting" [1]. That is, DA may mediate (a) the hedonic impact of reward (liking), (b) learned predictions about rewarding effects (learning), or (c) the pursuit of rewards by attributing incentive salience to reward-related stimuli (wanting). We evaluate these hypotheses, especially as they relate to the Reward Deficiency Syndrome (RDS), and we find that the incentive salience or "wanting" hypothesis of DA function is supported by a majority of the evidence. Neuroimaging studies have shown that drugs of abuse, palatable foods, and anticipated behaviors such as sex and gaming affect brain regions involving reward circuitry, and may not be unidirectional. Drugs of abuse enhance DA signaling and sensitize mesolimbic mechanisms that evolved to attribute incentive salience to rewards. Addictive drugs have in common that they are voluntarily selfadministered, they enhance (directly or indirectly) dopaminergic synaptic function in the nucleus accumbens (NAC), and they stimulate the functioning of brain reward circuitry (producing the "high" that drug users seek). Although originally believed simply to encode the set point of hedonic tone, these circuits now are believed to be functionally more complex, also encoding attention, reward expectancy, disconfirmation of reward expectancy, and incentive motivation. Elevated stress levels, together with polymorphisms of dopaminergic genes and other neurotransmitter genetic variants, may have a cumulative effect on vulnerability to addiction. The RDS model of etiology holds very well for a variety of chemical and behavioral addictions. PMID:22236117

  1. A rare combination: congenital adrenal hyperplasia due to 21 hydroxylase deficiency and Turner syndrome.

    PubMed

    Kendirci, Havva Nur Peltek; Aycan, Zehra; Çetinkaya, Semra; Baş, Veysel Nijat; Ağladıoğlu, Sebahat Yılmaz; Önder, Aşan

    2012-12-01

    A combination of Turner syndrome (TS) and classical congenital adrenal hyperplasia (CAH) is rare. A one-day-old newborn was referred to our hospital with ambiguous genitalia. The parents were third-degree relatives. The infant's weight was 3350g (50-75p), and the head circumference was 34.5cm (50p). The gonads were nonpalpable. Presence of a 3 cm phallus, one urogenital opening into the perineum, and incomplete labial fusion were identified. Laboratory tests revealed a classical type of CAH due to 21-hydroxylase deficiency. Karyotyping revealed a 45X0(35)/46XX(22) pattern with negative sex-determining region Y (SRY) on gene analysis. At the most recent follow-up visit, the patient appeared to be in good health - her height was 70.4 cm [-1.5 standard deviation (SD)] and her weight was 9.8 kg (0.3 SD). She was receiving hydrocortisone in a dose of 10 mg/m²/day, fludrocortisone acetate in a dose of 0.075 mg/day, and oral salt of 1 g/day. System examinations were normal. The patient's electrolyte levels were found to be normal and she was in good metabolic control. The findings of this patient demonstrate that routine karyotyping during investigation of patients with sexual differentiation disorders can reveal TS. Additionally, signs of virilism should always be investigated at diagnosis or during physical examinations for follow-up of TS cases. SRY analysis should be performed primarily when signs of virilism are observed. CAH should also be considered in patients with negative SRY. PMID:23261864

  2. Recombinase Activating Gene 1 Deficiencies Without Omenn Syndrome May Also Present With Eosinophilia and Bone Marrow Fibrosis

    PubMed Central

    Ulusoy, Ezgi; Karaca, Neslihan Edeer; Azarsiz, Elif; Berdeli, Afig; Aksu, Guzide; Kutukculer, Necil

    2016-01-01

    Background Severe combined immunodeficiency (SCID) syndromes are a heterogenous group of diseases characterized by impairment in both cellular and humoral immunity with a range of genetic disorders. Complete recombinase activating gene (RAG) deficiency is associated with classical T-B-NK+ SCID which is the most common phenotype of Turkish SCID patients. There is a broad spectrum of hypomorfic RAG mutations including Omenn syndrome, leaky or atypical SCID with expansion of γδ T cells, autoimmunity and cytomegalovirus (CMV) infections. Methods Twenty-one (44%) patients had RAG1 deficiency of all 44 SCID patients followed up by pediatric immunology department. A retrospective analysis was conducted on the medical records of all SCID patients with RAG1 deficiency. Results Eight patients were classified as T-B-NK+ SCID, five patients as T+B-NK+ SCID (three of these were Omenn phenotype), and eight patients as T+B+NK+ SCID phenotype. Mean age of the whole study group, mean age at onset of symptoms and mean age at diagnosis were 87.7 ± 73.8 (12 - 256), 4.4 ± 8.2 (1 - 36) and 29.1 ± 56.8 (1 - 244) months, respectively. Consanguinity was present in 11 (52%) of 21 patients. Autoimmunity was found in six patients (28%). Ten patients (47%) had CMV infection, four (19%) had Epstein-Barr virus (EBV) infections and three (14%) had Bacillus Calmette-Guerin (BCG) infections. Seven patients who had refractory cytopenia (two pancytopenia and five bicytopenia) underwent bone marrow biopsy, three of whom had bone marrow fibrosis. Future evaluations must be considered about bone marrow fibrosis in RAG1 deficiency patients. Eosinophilia was observed in 10 patients, seven of whom did not have Omenn phenotype. Conclusion Non-Omenn phenotype RAG1 deficiencies can also present with eosinophilia. This report is presented to emphasize that RAG1 mutations may lead to diverse clinical phenotypes. PMID:27081423

  3. [Netherton syndrome: a type of infantile erythroderma with failure to thrive, immune deficiency, rickets. Report of 3 cases].

    PubMed

    André, E; Till, M; Descargues, P; Cordier, M P; Fouilhoux, A; Haftek, M; Hovnanian, A; Lachaux, A

    2005-09-01

    We report the cases of 2 boys and 1 girl suffering from Netherton syndrome. Both boys presented with a non-bullous congenital erythroderma and were diagnosed early as Netherton syndrome with hair biopsies. Both had severe failure to thrive, signs of atopy, several episodes of bacterial infection, and rickets (with a high blood level of vitamin D in the first boy, and vitamin D deficiency in the second). In the third case, the pilar abnormality appeared at the age of 3 years. The girl had ichtyosis linearis circumflexa, failure to thrive and severe constipation. Netherton syndrome is a rare disorder characterized by severe ichtyosis, signs of atopy, immune deficiency and failure to thrive. The disease is severe and comprises many complications in early infancy. It is due to a genetic disorder of recessive autosomal transmission, and the gene, SPINK5, is located in the chromosome 5. Prenatal diagnosis is possible. Two of our patients had rickets, which has never been described in such patients population. PMID:15935629

  4. Designing and Implementing an Educational Program on AIDS for Minority Childbearing Women To Enhance AIDS Awareness.

    ERIC Educational Resources Information Center

    Nimphius, Gail M.

    Ignorance, misinformation, and a failure to personalize the risk for acquisition of the Acquired Immune Deficiency Syndrome (AIDS) virus has created a situation in which the incidence of Human Immunodeficiency Virus (HIV) seroprevalence among minority childbearing women in a Florida county is increasing. An increased incidence in this population…

  5. School Health Education To Prevent AIDS and Sexually Transmitted Diseases. WHO AIDS Series 10.

    ERIC Educational Resources Information Center

    World Health Organization, Geneva (Switzerland).

    This guide provides a framework within which education authorities can work with teachers, parents, and community leaders to help young people learn the facts about Acquired Immune Deficiency Syndrome (AIDS) and Sexually Transmitted Diseases (STDs). It emphasizes the importance of education about human behavior and sexuality that is appropriate to…

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

    ERIC Educational Resources Information Center

    Baumgartner, Lisa M.

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

  7. Metachronous T-Lymphoblastic Lymphoma and Burkitt Lymphoma in a Child With Constitutional Mismatch Repair Deficiency Syndrome.

    PubMed

    Alexander, Thomas B; McGee, Rose B; Kaye, Erica C; McCarville, Mary Beth; Choi, John K; Cavender, Cary P; Nichols, Kim E; Sandlund, John T

    2016-08-01

    Constitutional mismatch repair deficiency (CMMRD) is a cancer predisposition syndrome associated with a high risk of developing early-onset malignancies of the blood, brain, and intestinal tract. We present the case of a patient with T-lymphoblastic lymphoma at the age of 3 years, followed by Burkitt lymphoma 10 years later. This patient also exhibited numerous nonmalignant findings including café au lait spots, lipomas, bilateral renal nodules, a nonossifying fibroma, multiple colonic adenomas, and a rapidly enlarging pilomatrixoma. The spectrum of malignant and nonmalignant neoplasms in this patient highlights the remarkable diversity, and early onset, of lesions seen in children with CMMRD. PMID:27037742

  8. Vitamin D deficiency is associated with impaired disease control in asthma–COPD overlap syndrome patients

    PubMed Central

    Odler, Balázs; Ivancsó, István; Somogyi, Vivien; Benke, Kálmán; Tamási, Lilla; Gálffy, Gabriella; Szalay, Balázs; Müller, Veronika

    2015-01-01

    Introduction The association between vitamin D and clinical parameters in obstructive lung diseases (OLDs), including COPD and bronchial asthma, was previously investigated. As asthma–COPD overlap syndrome (ACOS) is a new clinical entity, the prevalence of vitamin D levels in ACOS is unknown. Aim Our aim was to assess the levels of circulating vitamin D (25-hydroxyvitamin D [25(OH)D]) in different OLDs, including ACOS patients, and its correlation with clinical parameters. Methods A total of 106 men and women (control, n=21; asthma, n=44; COPD, n=21; and ACOS, n=20) were involved in the study. All patients underwent detailed clinical examinations; disease control and severity was assessed by disease-specific questionnaires (COPD assessment test, asthma control test, and modified Medical Research Council); furthermore, 25(OH)D levels were measured in all patients. Results The 25(OH)D level was significantly lower in ACOS and COPD groups compared to asthma group (16.86±1.79 ng/mL and 14.27±1.88 ng/mL vs 25.66±1.91 ng/mL). A positive correlation was found between 25(OH)D level and forced expiratory volume in 1 second (r=0.4433; P<0.0001), forced vital capacity (FVC) (r=0.3741; P=0.0004), forced expiratory flow between 25% and 75% of FVC (r=0.4179; P<0.0001), and peak expiratory flow (r=0.4846; P<0.0001) in OLD patient groups. Asthma control test total scores and the 25(OH)D level showed a positive correlation in the ACOS (r=0.4761; P=0.0339) but not in the asthma group. Higher COPD assessment test total scores correlated with decreased 25(OH)D in ACOS (r=−0.4446; P=0.0495); however, this was not observed in the COPD group. Conclusion Vitamin D deficiency is present in ACOS patients and circulating 25(OH)D level may affect disease control and severity. PMID:26451099

  9. Immune reconstitution inflammatory syndrome in association with HIV/AIDS and tuberculosis: Views over hidden possibilities

    PubMed Central

    Shankar, Esaki Muthu; Vignesh, Ramachandran; Murugavel, Kailapuri G; Balakrishnan, Pachamuthu; Sekar, Ramalingam; Lloyd, Charmaine AC; Solomon, Suniti; Kumarasamy, Nagalingeswaran

    2007-01-01

    Gut immune components are severely compromised among persons with AIDS, which allows increased translocation of bacterial lipopolysaccharides (LPS) into the systemic circulation. These microbial LPS are reportedly increased in chronically HIV-infected individuals and findings have correlated convincingly with measures of immune activation. Immune reconstitution inflammatory syndrome (IRIS) is an adverse consequence of the restoration of pathogen-specific immune responses in a subset of HIV-infected subjects with underlying latent infections during the initial months of highly active antiretroviral treatment (HAART). Whether IRIS is the result of a response to a high antigen burden, an excessive response by the recovering immune system, exacerbated production of pro-inflammatory cytokines or a lack of immune regulation due to inability to produce regulatory cytokines remains to be determined. We theorize that those who develop IRIS have a high burden of proinflammatory cytokines produced also in response to systemic bacterial LPS that nonspecifically act on latent mycobacterial antigens. We also hypothesize that subjects that do not develop IRIS could have developed either tolerance (anergy) to persistent LPS/tubercle antigens or could have normal FOXP3+ gene and that those with defective FOXP3+ gene or those with enormous plasma LPS could be vulnerable to IRIS. The measure of microbial LPS, anti-LPS antibodies and nonspecific plasma cytokines in subjects on HAART shall predict the role of these components in IRIS. PMID:18053126

  10. Genetic deficiency of C4, C2 or C1q and lupus syndromes. Association with anti-Ro (SS-A) antibodies.

    PubMed Central

    Meyer, O; Hauptmann, G; Tappeiner, G; Ochs, H D; Mascart-Lemone, F

    1985-01-01

    Sera from 15 patients with genetically determined complement component deficiencies were studied for the presence of antibodies to various nuclear antigens. One of three patients with C2 deficiency presented with systemic lupus erythematosus (SLE); all eight patients with C4 deficiency had either SLE or a lupus-like syndrome, and two of four patients with functional C1q deficiency had SLE. Five of nine complement deficiency patients with SLE studied had measurable antinuclear antibody titres, but only two had antibodies against native DNA. Precipitating antibodies against extractable nuclear antigens were found in sera from seven of the 11 complement deficient patients with SLE; one had only antibodies against antigens extracted from calf thymus (ECT), six patients (one with C2 deficiency, four with C4 deficiency and one with C1q deficiency) had anti-Ro (SS-A) antibodies with or without anti-ECT antibodies. The frequency of anti-Ro antibodies in the complement deficient population with SLE (55%) was significantly higher (P less than 0.02) than that of a control population of SLE patients without genetically determined complement deficiencies (27%). PMID:3878757

  11. Psychopathology in 90 consecutive human immunodeficiency virus-seropositive and acquired immune deficiency syndrome patients with mostly intravenous drug use history.

    PubMed

    Perretta, P; Nisita, C; Zaccagnini, E; Lorenzetti, C; Nuccorini, A; Cassano, G B; Akiskal, H S

    1996-01-01

    This report presents systematic clinical data regarding psychiatric diagnoses, personal and family psychiatric histories, and symptomatologic aspects of 90 consecutive human immunodeficiency virus (HIV)-seropositive and acquired immune deficiency syndrome (AIDS) patients, of whom slightly less than two thirds were at risk due to intravenous drug abuse. In addition, a comparison was made between the distribution patterns of these variables at various stages of HIV illness and related at-risk behaviors. Eighty-four percent of the patients met criteria for a spectrum of DSM-III-R diagnoses (mostly affective) that were associated with high rates of affective and alcohol abuse disorders among first-degree relatives. Mood disorders did not differ significantly between the two main groups at risk (intravenous drug users [IVDUs] v others) by gender, age, or stage of illness. The overall data from the rating scales show high levels of psychic and somatic anxiety in the early stages of illness, whereas cognitive symptoms, retardation, and disorientation are dominant in later stages. A noteworthy finding in this study is that many depressed patients demonstrated current and/or past hypomanic, hyperthymic, or cyclothymic features with no evidence of brain damage detectable by computed axial tomography (CAT). These temperamental attributes, which preceded HIV infection, may have served as risk factors for both drug abuse and impulsive sexual behavior in all types of at-risk groups. PMID:8826691

  12. Female Secondary School Adolescents' Sexual Behavior and School Based HIV/AIDS Education Program

    ERIC Educational Resources Information Center

    Inyang, Mfrekemfon P.

    2013-01-01

    Most adolescents engage in indiscriminate sexual experimentations. This practice exposes them to the risk of contracting sexually transmitted infections including HIV/AIDS. Human immunodeficiency virus (HIV) and acquired immune deficiency syndromes (AIDS) are among the deadly diseases that exist globally. Twice as many girls, compared to boys…

  13. The Facts about AIDS. A Special NEA "Higher Education Advocate" Report.

    ERIC Educational Resources Information Center

    Wechsler, Harold, Ed.

    1987-01-01

    Information about Acquired Immune Deficiency Syndrome (AIDS) is presented to alert National Education Association educators to behaviors that place people at risk for AIDS. The material was prepared by the Public Health Service. Topics include: sexual transmission, transmission from injected blood, transmission during pregnancy, groups at greatest…

  14. Teaching Collegiate AIDS Prevention Programs: A State-wide Training Workshop.

    ERIC Educational Resources Information Center

    Fennell, Reginald; Kerr, Dianne L.

    Teaching Collegiate AIDS (Acquired Immune Deficiency Syndrome) Prevention Programs (TCAPP) is a 3-day education workshop which educates and trains student development professionals, college faculty, other university personnel, and students on how to provide HIV (Human Immunodeficiency Virus)/AIDS education. The workshop, held annually since 1988,…

  15. Older Americans and AIDS: Transmission Risks and Primary Prevention Research Needs.

    ERIC Educational Resources Information Center

    Catania, Joseph A.; And Others

    1989-01-01

    Growing number of Acquired Immune Deficiency Syndrome (AIDS) cases among older Americans is of increasing concern. In context of primary prevention, reviews findings that bear on modes of human immunodeficiency virus (HIV) transmission (blood transfusions, sexual) among older individuals and knowledge of magnitude of the AIDS problem represented…

  16. Assessing Employee Attitudes in a Community-Based AIDS Service Organization.

    ERIC Educational Resources Information Center

    Liou, Kuotsai Tom; Cruise, Peter L.

    1994-01-01

    Thirty-one employees of the Comprehensive Acquired Immune Deficiency Syndrome (AIDS) Program of Palm Beach County (Florida) were surveyed to explore their motives and attitudes toward their jobs, clients, and the organization. Implications for management of AIDS service organizations and program quality are discussed. (SLD)

  17. AIDS and Child Care: A Booklet for Child Care Workers, Management Committees and Parents.

    ERIC Educational Resources Information Center

    Fricke, Caroline; Glasson, Mark

    This booklet provides Australians with basic information about the Acquired Immune Deficiency Syndrome (AIDS). Contents cover the definiton of AIDS, ways the disease is transmitted, Human Immunodeficiency Virus (HIV) antibody testing for adults and children, variations among children infected with HIV, information that HIV is not transmitted…

  18. Predictors of Intention To Take Precautions against AIDS among Black College Students.

    ERIC Educational Resources Information Center

    Tashakkori, Abbas; Thompson, Vaida D.

    This research explored the effects of a number of factors derived from extant intention-behavior models on a general behavioral intention to engage in protection against Acquired Immune Deficiency Syndrome (AIDS) and a specific behavioral intention to use condoms as protection in vaginal sex. Data pertaining to beliefs, knowledge about AIDS, fear…

  19. Sound Policies and Expert Advice Are Your Best Protection against AIDS.

    ERIC Educational Resources Information Center

    McCormick, Kathleen

    1986-01-01

    A panel of AIDS (Acquired Immune Deficiency Syndrome) experts at a recent conference sponsored by the National School Boards Association provided useful advice and information to school officials on medical, legal, and policy-related issues raised by the AIDS epidemic. Highlights of the conference are discussed. (TE)

  20. Toward an Understanding of (EM)Power(Ment) for HIV/AIDS Prevention with Adolescent Women.

    ERIC Educational Resources Information Center

    Gutierrez, Lorraine; Oh, Hyun Joo; Gillmore, Mary Rogers

    Preventing the spread of Acquired Immune Deficiency Syndrome (AIDS) among women is a national priority. In the United States, AIDS is the sixth leading cause of death among young adult women, and their rate of infection is four times higher than men. This article was developed to help stimulate interest in the power dynamics of relationships and…

  1. Lazarus and Group Psychotherapy: AIDS in the Era of Protease Inhibitors

    ERIC Educational Resources Information Center

    Gushue, George V.; Brazaitis, Sarah J.

    2003-01-01

    A new class of medications, protease inhibitors, has dramatically improved the health of many people with Human Immunodeficiency Virus (HIV) and Acquired Immune Deficiency Syndrome (AIDS). This development has had a major impact on the lives of those affected by HIV/AIDS. This article considers how a group is affected by the larger systems of…

  2. AIDS in South Africa: Therapeutic Interventions to Strengthen Resilience among Orphans and Vulnerable Children

    ERIC Educational Resources Information Center

    Heath, Melissa Allen; Donald, David R.; Theron, Linda C.; Lyon, Rachel Crook

    2014-01-01

    Worldwide, approximately 10% of the 34.2 million individuals infected by human immunodeficiency virus/acquired immune deficiency syndrome (HIV/AIDS) are under the age of 18. Additionally, 17.8 million children have experienced one or both parents dying of HIV/AIDS. In comparison to other countries, South Africa has the highest per capita of…

  3. Getting the Word Out: A Practical Guide to AIDS Materials Development.

    ERIC Educational Resources Information Center

    Matiella, Ana Consuelo, Ed.

    This book provides health professionals with a "how to" approach to developing culturally sensitive and effective Acquired Immune Deficiency Syndrome (AIDS) education materials. It is a collection of chapters written by community AIDS educators who have specialized knowledge and skill in developing educational materials in multi-ethnic…

  4. Safe Sex and Dangerous Poems: AIDS, Literature and the Gay and Lesbian Community College Student.

    ERIC Educational Resources Information Center

    Engler, Robert Klein

    Some of the denial and fear that accompanies homosexuality and the Acquired Immune Deficiency Syndrome (AIDS) can be dealt with by discussing the following three issues: the AIDS epidemic, the problems of gay and lesbian community college students, and finally, the teaching of literature--especially poetry. Exploring both poetry and the AIDS…

  5. AIDS in Correctional Facilities: Issues and Options. Issues and Practices in Criminal Justice. Third Edition.

    ERIC Educational Resources Information Center

    Hammett, Theodore M.

    This document, written for officials involved in making and implementing decisions regarding the correctional response to Acquired Immune Deficiency Syndrome (AIDS), provides the most current figures and trend data on the incidence of AIDS among incarcerated offenders. The stated purpose of this document is to be informational rather than…

  6. AIDS in the World of Work: When Information Is Not Enough.

    ERIC Educational Resources Information Center

    Buhrer, Michel

    2000-01-01

    Acquired immune deficiency syndrome (AIDS) is a critical problem in Africa, where 80 percent of AIDS-related deaths attack the 20- to 49-year age group. Uganda has developed a strategy to fight the epidemic, including unions' work in fighting the virus and the discrimination affecting those with the disease. (JOW)

  7. Sexually Transmitted Diseases and Young Adults. and Update on AIDS for Teachers and Policy Makers.

    ERIC Educational Resources Information Center

    Yarber, William L.; Newschwander, Gregg E.

    1987-01-01

    Consists of two articles on the topics of (1) sexually transmitted diseases and (2) acquired immune deficiency syndrome (AIDS). Yarber discusses how these topics should be taught to young people, with emphasis on health education as opposed to morality. Newschwander states the facts related to AIDS, including risks of enrolling infected students.…

  8. Experiential Service-Based Learning: An Integrated HIV/AIDS Education Model for College Campuses.

    ERIC Educational Resources Information Center

    Porter, Judith R.; Schwartz, Lisa B.

    1993-01-01

    Reports on a approach to teaching the sociology of acquired immune deficiency syndrome (AIDS) by combining coursework with weekly volunteer work in an AIDS agency. Concludes with a discussion of the benefits of experiential learning and five guidelines for establishing similar community service programs. (CFR)

  9. AIDS: The Global Impact. Academy for Educational Development 25th Anniversary Seminar Series.

    ERIC Educational Resources Information Center

    Mann, Jonathan

    This paper describes why acquired immune deficiency syndrome (AIDS) is a global health problem and discusses special features of the virus and its infection. This disease's transmission and interaction with other diseases, along with 1986 statistics concerning AIDS, are presented in terms of selected continents and countries. The World Health…

  10. College Students' Knowledge about AIDS and Reported Changes in Sexual Behavior.

    ERIC Educational Resources Information Center

    Walters, Andrew S.

    1992-01-01

    Examined extent to which college students (n=180) change their sexual behavior in response to understanding of Acquired Immune Deficiency Syndrome (AIDS). Results suggest students have an understanding of AIDS. For this sample, some high-risk behaviors did decrease, presumably as a result of this knowledge, but there was much behavior that still…

  11. Experiencing an Epidemic: The Development of an AIDS Education Program for Community College Students in Maryland.

    ERIC Educational Resources Information Center

    Rochlin, Joyce T.

    In 1991, a project was undertaken to suggest components for an Acquired Immune Deficiency Syndrome (AIDS) education program for community college students. The project sought to identify AIDS programs and policies in place at the 17 community colleges in Maryland; assessed community college students' knowledge about the spread and prevention of…

  12. Teens for AIDS Prevention. Washington, D.C. Demonstration Project: Program Summary.

    ERIC Educational Resources Information Center

    Center for Population Options, Washington, DC.

    The nation's attention must be focused on the growing risk to its teenagers of contracting AIDS (Acquired Immune Deficiency Syndrome). As part of this effort, the Center for Population Options (CPO) organized a teen AIDS prevention project in Washington, D.C., based on information obtained from four focus groups comprised of 8-12 teens each. The…

  13. Extenuating Circumstances in Perceptions of Suicide: Disease Diagnosis (AIDS, Cancer), Pain Level, and Life Expectancy.

    ERIC Educational Resources Information Center

    Martin, Stephen K.; Range, Lillian M.

    1991-01-01

    Examined whether illness type, pain level, and life expectancy affected reactions of undergraduates (n=160) toward a terminal illness suicide with Acquired Immune Deficiency Syndrome (AIDS) or cancer. AIDS patients were more stigmatized than cancer patients; suicide was more tolerated if victim was suffering greater pain. (Author/ABL)

  14. The Evaluation of Educational Help in Aids Prevention among Youth for Educators Working Outside the School.

    ERIC Educational Resources Information Center

    Gaudreau, Louise; And Others

    Training of professionals as educators in the Acquired Immune Deficiency Syndrome (AIDS) and sex education domains has been seen as part of the solution to slow down the Human Immunodeficiency Virus (HIV) transmission and eventually stop it. This study evaluated an educational guide for AIDS prevention which was distributed to youth workers…

  15. Family Structure and Functions Identified by Persons Living with HIV/AIDS.

    ERIC Educational Resources Information Center

    Wong-Wylie, Gina; Doherty-Poirier, Maryanne; Kieren, Dianne

    1999-01-01

    A study looked at the structural and functional aspects of family from the perspective of six people living with acquired immune deficiency syndrome (AIDS) or human immunodeficiency virus (HIV). Results showing how HIV/AIDS affects all members of the sufferer's family have implications for family practitioners. (Author/JOW)

  16. Social Constructs and Disease: Implications for a Controlled Vocabulary for HIV/AIDS.

    ERIC Educational Resources Information Center

    Huber, Jeffrey T.; Gillaspy, Mary L.

    1998-01-01

    The body of knowledge associated with the human immunodeficiency virus (HIV) and the acquired immune deficiency syndrome (AIDS) represents complexity not present in any other disease. A controlled vocabulary and classification structure used to organize the body of knowledge associated with HIV/AIDS is discussed. (Author/AEF)

  17. Health care and AIDS.

    PubMed

    Peck, J; Bezold, C

    1992-07-01

    The acquired immune deficiency syndrome (AIDS) is a harbinger for change in health care. There are many powerful forces poised to transform the industrialized health care structure of the twentieth century, and AIDS may act as either a catalyst or an amplifier for these forces. AIDS could, for example, swamp local resources and thereby help trigger national reform in a health care system that has already lost public confidence. AIDS can also hasten the paradigm shift that is occurring throughout health care. Many of the choices society will confront when dealing with AIDS carry implications beyond health care. Information about who has the disease, for example, already pits traditional individual rights against group interests. Future information systems could make discrimination based upon medical records a nightmare for a growing number of individuals. Yet these systems also offer the hope of accelerated progress against not only AIDS but other major health threats as well. The policy choices that will define society's response to AIDS can best be made in the context of a clearly articulated vision of a society that reflects our deepest values. PMID:10119289

  18. Deficient expression of aldehyde dehydrogenase 1A1 is consistent with increased sensitivity of Gorlin syndrome patients to radiation carcinogenesis

    SciTech Connect

    Wright, Aaron T.; Magnaldo, Thierry; Sontag, Ryan L.; Anderson, Lindsey N.; Sadler, Natalie C.; Piehowski, Paul D.; Gache, Yannick; Weber, Thomas J.

    2013-11-27

    Human phenotypes that are highly susceptible to radiation carcinogenesis have been identified. Sensitive phenotypes often display robust regulation of molecular features that modify biological response, which can facilitate identification of relevant pathways/networks. Here we interrogate primary dermal fibroblasts isolated from Gorlin syndrome patients (GDFs), who display a pronounced tumorigenic response to radiation, in comparison to normal human dermal fibroblasts (NHDFs). Our approach exploits newly developed thiol-reactive probes with a flexible click chemistry functional group to define changes in protein thiol profiles in live cell studies, which minimizes artifacts associated with cell lysis. We observe qualitative differences in protein thiol profiles by SDS-PAGE analysis when detection by iodoacetamide vs maleimide probe chemistries are compared, and pretreatment of cells with hydrogen peroxide eliminates detection of the majority of SDS-PAGE bands. Redox probes revealed deficient expression of an apparent 55 kDa protein thiol in GDFs from independent donors, compared with NHDFs. Proteomics tentatively identified this protein as aldehyde dehydrogenase 1A1 (ALDH1A1), a key enzyme regulating retinoic acid synthesis, and this deficiency was confirmed by Western blot. Redox probes revealed additional protein thiol differences between GDFs and NHDFs, including radiation responsive annexin family members. Our results indicate a multifactorial basis for the unusual sensitivity of Gorlin syndrome to radiation carcinogenesis, and the pathways identified have plausible implications for radiation health effects.

  19. Deficient expression of aldehyde dehydrogenase 1A1 is consistent with increased sensitivity of Gorlin syndrome patients to radiation carcinogenesis

    DOE PAGESBeta

    Wright, Aaron T.; Magnaldo, Thierry; Sontag, Ryan L.; Anderson, Lindsey N.; Sadler, Natalie C.; Piehowski, Paul D.; Gache, Yannick; Weber, Thomas J.

    2013-11-27

    Human phenotypes that are highly susceptible to radiation carcinogenesis have been identified. Sensitive phenotypes often display robust regulation of molecular features that modify biological response, which can facilitate identification of relevant pathways/networks. Here we interrogate primary dermal fibroblasts isolated from Gorlin syndrome patients (GDFs), who display a pronounced tumorigenic response to radiation, in comparison to normal human dermal fibroblasts (NHDFs). Our approach exploits newly developed thiol-reactive probes with a flexible click chemistry functional group to define changes in protein thiol profiles in live cell studies, which minimizes artifacts associated with cell lysis. We observe qualitative differences in protein thiol profilesmore » by SDS-PAGE analysis when detection by iodoacetamide vs maleimide probe chemistries are compared, and pretreatment of cells with hydrogen peroxide eliminates detection of the majority of SDS-PAGE bands. Redox probes revealed deficient expression of an apparent 55 kDa protein thiol in GDFs from independent donors, compared with NHDFs. Proteomics tentatively identified this protein as aldehyde dehydrogenase 1A1 (ALDH1A1), a key enzyme regulating retinoic acid synthesis, and this deficiency was confirmed by Western blot. Redox probes revealed additional protein thiol differences between GDFs and NHDFs, including radiation responsive annexin family members. Our results indicate a multifactorial basis for the unusual sensitivity of Gorlin syndrome to radiation carcinogenesis, and the pathways identified have plausible implications for radiation health effects.« less

  20. Deficient Expression of Aldehyde Dehydrogenase 1A1 Is Consistent with Increased Sensitivity of Gorlin Syndrome Patients to Radiation Carcinogenesis

    SciTech Connect

    Wright, Aaron T.; Magnaldo, Thierry; Sontag, Ryan L.; Anderson, Lindsey N.; Sadler, Natalie C.; Piehowski, Paul D.; Gache, Yannick; Weber, Thomas J.

    2015-06-01

    Human phenotypes that are highly susceptible to radiation carcinogenesis have been identified. Sensitive phenotypes often display robust regulation of molecular features that modify biological response, which can facilitate identification of relevant pathways/networks. Here we interrogate primary dermal fibroblasts isolated from Gorlin syndrome patients (GDFs), who display a pronounced tumorigenic response to radiation, in comparison to normal human dermal fibroblasts (NHDFs). Our approach exploits newly developed thiol-reactive probes with a flexible click chemistry functional group to define changes in protein thiol profiles in live cell studies, which minimizes artifacts associated with cell lysis. We observe qualitative differences in protein thiol profiles by SDS-PAGE analysis when detection by iodoacetamide vs maleimide probe chemistries are compared, and pretreatment of cells with hydrogen peroxide eliminates detection of the majority of SDS-PAGE bands. Redox probes revealed deficient expression of an apparent 55 kDa protein thiol in GDFs from independent donors, compared with NHDFs. Proteomics tentatively identified this protein as aldehyde dehydrogenase 1A1 (ALDH1A1), a key enzyme regulating retinoic acid synthesis, and this deficiency was confirmed by Western blot. Redox probes revealed additional protein thiol differences between GDFs and NHDFs, including radiation responsive annexin family members. Our results indicate a multifactorial basis for the unusual sensitivity of Gorlin syndrome to radiation carcinogenesis, and the pathways identified have plausible implications for radiation health effects.

  1. Respiratory failure and acalculous cholecystitis in a patient with AIDS and disseminated tuberculosis: masking effect of fluoroquinolone monotherapy and immune restoration syndrome.

    PubMed

    Chen, Po-Lin; Lee, Hsin-Chun; Shan, Yan-Shen; Ko, Nai-Ying; Lee, Nan-Yao; Chang, Chia-Ming; Wu, Chi-Jung; Lee, Ching-Chi; Ko, Wen-Chien

    2009-07-01

    The clinical presentation of Mycobacterium tuberculosis infection varies in patients with AIDS. We report a case of disseminated tuberculosis in an AIDS patient. The initial manifestation was masked by fluoroquinolone monotherapy, and subsequently complicated by acalculous cholecystitis and immune restoration syndrome after antiretroviral therapy. PMID:19008140

  2. 11p15 duplication and 13q34 deletion with Beckwith-Wiedemann syndrome and factor VII deficiency.

    PubMed

    Jurkiewicz, Dorota; Kugaudo, Monika; Tańska, Anna; Wawrzkiewicz-Witkowska, Angelika; Tomaszewska, Agnieszka; Kucharczyk, Marzena; Cieślikowska, Agata; Ciara, Elżbieta; Krajewska-Walasek, Małgorzata

    2015-06-01

    Here we report a patient with 11p15.4p15.5 duplication and 13q34 deletion presenting with Beckwith-Wiedemann syndrome (BWS) and moderate deficiency of factor VII (FVII). The duplication was initially diagnosed on methylation-sensitive multiplex ligation-dependent probe amplification. Array comparative genome hybridization confirmed its presence and indicated a 13q34 distal deletion. The patient's clinical symptoms, including developmental delay and facial dysmorphism, were typical of BWS with paternal 11p15 trisomy. Partial 13q monosomy in this patient is associated with moderate deficiency of FVII and may also overlap with a few symptoms of paternal 11p15 trisomy such as developmental delay and some facial features. To our knowledge this is the first report of 11p15.4p15.5 duplication associated with deletion of 13q34 and FVII deficiency. Moreover, this report emphasizes the importance of detailed clinical as well as molecular examinations in patients with BWS features and developmental delay. PMID:26012727

  3. PX-RICS-deficient mice mimic autism spectrum disorder in Jacobsen syndrome through impaired GABAA receptor trafficking

    PubMed Central

    Nakamura, Tsutomu; Arima-Yoshida, Fumiko; Sakaue, Fumika; Nasu-Nishimura, Yukiko; Takeda, Yasuko; Matsuura, Ken; Akshoomoff, Natacha; Mattson, Sarah N.; Grossfeld, Paul D.; Manabe, Toshiya; Akiyama, Tetsu

    2016-01-01

    Jacobsen syndrome (JBS) is a rare congenital disorder caused by a terminal deletion of the long arm of chromosome 11. A subset of patients exhibit social behavioural problems that meet the diagnostic criteria for autism spectrum disorder (ASD); however, the underlying molecular pathogenesis remains poorly understood. PX-RICS is located in the chromosomal region commonly deleted in JBS patients with autistic-like behaviour. Here we report that PX-RICS-deficient mice exhibit ASD-like social behaviours and ASD-related comorbidities. PX-RICS-deficient neurons show reduced surface γ-aminobutyric acid type A receptor (GABAAR) levels and impaired GABAAR-mediated synaptic transmission. PX-RICS, GABARAP and 14-3-3ζ/θ form an adaptor complex that interconnects GABAAR and dynein/dynactin, thereby facilitating GABAAR surface expression. ASD-like behavioural abnormalities in PX-RICS-deficient mice are ameliorated by enhancing inhibitory synaptic transmission with a GABAAR agonist. Our findings demonstrate a critical role of PX-RICS in cognition and suggest a causal link between PX-RICS deletion and ASD-like behaviour in JBS patients. PMID:26979507

  4. Oral Mucosa Bleeding Times of Normal Cats and Cats with Chediak-Higashi Syndrome or Hageman Trait (Factor XII Deficiency).

    PubMed

    Parker, M T; Collier, L L; Kier, A B; Johnson, G S

    1988-01-01

    A commercially available, disposable blade in a spring-loaded cassette was used to measure oral mucosa bleeding times (OMBT) of ketamine/acepromazine-anesthetized cats. The OMBT were determined in cats homozygous for Chediak-Higashi syndrome (CHS, n = 7), cats heterozygous for CHS (n = 6), and cats homozygous for Hageman factor (factor XII) deficiency (n = 5). In addition, OMBT were determined in three groups of normal cats: random-source cats (n = 14), inbred normal relatives of the cats with CHS (n = 7), and inbred normal relatives of Hageman factor deficient cats (n = 9). No significant differences were found in the OMBT of the three groups of normal cats. The mean OMBT for all 30 normal cats was 1.9 minutes +/- 0.5 minutes s.d. Compared to the normal cats, those homozygous for CHS had significantly prolonged OMBT (14.1 +/- 3.3 minutes; p < 0.05). The mean OMBT of cats heterozygous for CHS (2.6 +/- 0.8 minutes) was also significantly longer than the OMBT of the combined normal group. The mean OMBT of the CHS heterozygotes, however, was not significantly longer than that of their normal relatives (OMBT = 1.8 +/- 0.5 minutes), probably because of the low number of cats in this subgroup of normals. As expected, the OMBT of cats homozygous for Hageman factor deficiency (2.3 +/- 0.3 minutes) were not significantly prolonged. PMID:15162339

  5. PEX13 deficiency in mouse brain as a model of Zellweger syndrome: abnormal cerebellum formation, reactive gliosis and oxidative stress

    PubMed Central

    Müller, C. Catharina; Nguyen, Tam H.; Ahlemeyer, Barbara; Meshram, Mallika; Santrampurwala, Nishreen; Cao, Siyu; Sharp, Peter; Fietz, Pamela B.; Baumgart-Vogt, Eveline; Crane, Denis I.

    2011-01-01

    SUMMARY Delayed cerebellar development is a hallmark of Zellweger syndrome (ZS), a severe neonatal neurodegenerative disorder. ZS is caused by mutations in PEX genes, such as PEX13, which encodes a protein required for import of proteins into the peroxisome. The molecular basis of ZS pathogenesis is not known. We have created a conditional mouse mutant with brain-restricted deficiency of PEX13 that exhibits cerebellar morphological defects. PEX13 brain mutants survive into the postnatal period, with the majority dying by 35 days, and with survival inversely related to litter size and weaning body weight. The impact on peroxisomal metabolism in the mutant brain is mixed: plasmalogen content is reduced, but very-long-chain fatty acids are normal. PEX13 brain mutants exhibit defects in reflex and motor development that correlate with impaired cerebellar fissure and cortical layer formation, granule cell migration and Purkinje cell layer development. Astrogliosis and microgliosis are prominent features of the mutant cerebellum. At the molecular level, cultured cerebellar neurons from E19 PEX13-null mice exhibit elevated levels of reactive oxygen species and mitochondrial superoxide dismutase-2 (MnSOD), and show enhanced apoptosis together with mitochondrial dysfunction. PEX13 brain mutants show increased levels of MnSOD in cerebellum. Our findings suggest that PEX13 deficiency leads to mitochondria-mediated oxidative stress, neuronal cell death and impairment of cerebellar development. Thus, PEX13-deficient mice provide a valuable animal model for investigating the molecular basis and treatment of ZS cerebellar pathology. PMID:20959636

  6. PX-RICS-deficient mice mimic autism spectrum disorder in Jacobsen syndrome through impaired GABAA receptor trafficking.

    PubMed

    Nakamura, Tsutomu; Arima-Yoshida, Fumiko; Sakaue, Fumika; Nasu-Nishimura, Yukiko; Takeda, Yasuko; Matsuura, Ken; Akshoomoff, Natacha; Mattson, Sarah N; Grossfeld, Paul D; Manabe, Toshiya; Akiyama, Tetsu

    2016-01-01

    Jacobsen syndrome (JBS) is a rare congenital disorder caused by a terminal deletion of the long arm of chromosome 11. A subset of patients exhibit social behavioural problems that meet the diagnostic criteria for autism spectrum disorder (ASD); however, the underlying molecular pathogenesis remains poorly understood. PX-RICS is located in the chromosomal region commonly deleted in JBS patients with autistic-like behaviour. Here we report that PX-RICS-deficient mice exhibit ASD-like social behaviours and ASD-related comorbidities. PX-RICS-deficient neurons show reduced surface γ-aminobutyric acid type A receptor (GABAAR) levels and impaired GABAAR-mediated synaptic transmission. PX-RICS, GABARAP and 14-3-3ζ/θ form an adaptor complex that interconnects GABAAR and dynein/dynactin, thereby facilitating GABAAR surface expression. ASD-like behavioural abnormalities in PX-RICS-deficient mice are ameliorated by enhancing inhibitory synaptic transmission with a GABAAR agonist. Our findings demonstrate a critical role of PX-RICS in cognition and suggest a causal link between PX-RICS deletion and ASD-like behaviour in JBS patients. PMID:26979507

  7. Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome

    PubMed Central

    Baas, Annette F; Gabbett, Michael; Rimac, Milan; Kansikas, Minttu; Raphael, Martine; Nievelstein, Rutger AJ; Nicholls, Wayne; Offerhaus, Johan; Bodmer, Danielle; Wernstedt, Annekatrin; Krabichler, Birgit; Strasser, Ulrich; Nyström, Minna; Zschocke, Johannes; Robertson, Stephen P; van Haelst, Mieke M; Wimmer, Katharina

    2013-01-01

    Constitutional mismatch repair deficiency (CMMR-D) syndrome is a rare inherited childhood cancer predisposition caused by biallelic germline mutations in one of the four mismatch repair (MMR)-genes, MLH1, MSH2, MSH6 or PMS2. Owing to a wide tumor spectrum, the lack of specific clinical features and the overlap with other cancer predisposing syndromes, diagnosis of CMMR-D is often delayed in pediatric cancer patients. Here, we report of three new CMMR-D patients all of whom developed more than one malignancy. The common finding in these three patients is agenesis of the corpus callosum (ACC). Gray matter heterotopia is present in two patients. One of the 57 previously reported CMMR-D patients with brain tumors (therefore all likely had cerebral imaging) also had ACC. With the present report the prevalence of cerebral malformations is at least 4/60 (6.6%). This number is well above the population birth prevalence of 0.09–0.36 live births with these cerebral malformations, suggesting that ACC and heterotopia are features of CMMR-D. Therefore, the presence of cerebral malformations in pediatric cancer patients should alert to the possible diagnosis of CMMR-D. ACC and gray matter heterotopia are the first congenital malformations described to occur at higher frequency in CMMR-D patients than in the general population. Further systematic evaluations of CMMR-D patients are needed to identify possible other malformations associated with this syndrome. PMID:22692065

  8. Informed Choice for Participation in Down Syndrome Screening: Development and Content of a Web-Based Decision Aid

    PubMed Central

    Hansen, Helle Ploug; Draborg, Eva; Pedersen, Claus Duedal; Lamont, Ronald F; Jørgensen, Jan Stener

    2015-01-01

    Background In Denmark, all pregnant women are offered screening in early pregnancy to estimate the risk of having a fetus with Down syndrome. Pregnant women participating in the screening program should be provided with information and support to allow them to make an informed choice. There is increasing interest in the use of Web-based technology to provide information and digital solutions for the delivery of health care. Objective The aim of this study was to develop an eHealth tool that contained accurate and relevant information to allow pregnant women to make an informed choice about whether to accept or reject participation in screening for Down syndrome. Methods The development of the eHealth tool involved the cooperation of researchers, technology experts, clinicians, and users. The underlying theoretical framework was based on participatory design, the International Patient Decision Aid Standards (IPDAS) Collaboration guide to develop a patient decision aid, and the roadmap for developing eHealth technologies from the Center for eHealth Research and Disease Management (CeHRes). The methods employed were a systematic literature search, focus group interviews with 3 care providers and 14 pregnant women, and 2 weeks of field observations. A qualitative descriptive approach was used in this study. Results Relevant themes from pregnant women and care providers with respect to information about Down syndrome screening were identified. Based on formalized processes for developing patient decision aids and eHealth technologies, an interactive website containing information about Down syndrome, methods of screening, and consequences of the test was developed. The intervention was based on user requests and needs, and reflected the current hospital practice and national guidelines. Conclusions This paper describes the development and content of an interactive website to support pregnant women in making informed choices about Down syndrome screening. To develop the

  9. Have We Hatched the Addiction Egg: Reward Deficiency Syndrome Solution System™

    PubMed Central

    Downs, BW; Oscar-Berman, M; Waite, RL; Madigan, MA; Giordano, J; Beley, T; Jones, S; Simpatico, T; Hauser, M; Borsten, J; Marcelo, F; Braverman, ER; Lohmann, R; Dushaj, K; Helman, M; Barh, D; Schoenthaler, ST; Han, D; Blum, K

    2013-01-01

    This article co-authored by a number of scientists, ASAM physicians, clinicians, treatment center owners, geneticists, neurobiologists, psychologists, social workers, criminologists, nurses, nutritionist, and students, is dedicated to all the people who have lost loved ones in substance-abuse and “reward deficiency syndrome” related tragedies. Why are we failing at reducing the incidence of ‘Bad Behaviors’? Are we aiming at the wrong treatment targets for behavioral disorders? We are proposing a paradigm shift and calling it “Reward Deficiency Solution System” providing evidence for its adoption. PMID:24077767

  10. Small noncleaved B cell Burkitt-like lymphoma with chromosome t(8;14) translocation and Epstein-Barr virus nuclear-associated antigen in a homosexual man with acquired immune deficiency syndrome.

    PubMed

    Petersen, J M; Tubbs, R R; Savage, R A; Calabrese, L C; Proffitt, M R; Manolova, Y; Manolov, G; Shumaker, A; Tatsumi, E; McClain, K

    1985-01-01

    This case report describes new manifestations of the acquired immune deficiency syndrome (AIDS) in a promiscuous homosexual man. Investigation of upper gastrointestinal bleeding in the patient lead to discovery of a high-grade, small, noncleaved cell (Burkitt-like) gastroduodenal lymphoma with visceral and extralymphatic extension. Specific phenotyping of the lymphoma revealed that it was a monoclonal B cell lymphoma of mu kappa isotype. An in vitro cell line was established that was Epstein-Barr virus nuclear-associated antigen-positive. The lymphoma cells displayed a t(8;14) translocation similar to endemic African Burkitt lymphoma. Epstein-Barr virus genomes were identified in the lymphoma and an axillary lymph node biopsy specimen by molecular hybridization. These data strongly suggest that Epstein-Barr virus actively infected this patient. However, he showed normal Epstein-Barr virus-specific serologic responses, indicating an immune defect against the virus. PMID:2981469

  11. A New Syndrome with Hypotonia, Obesity, Mental Deficiency, and Facial, Oral, Ocular, and Limb Anomalies

    ERIC Educational Resources Information Center

    Cohen, M. Michael, Jr.; And Others

    1973-01-01

    Presented were three case reports of patients, 8 to 18 years of age, who shared common features, such as obesity beginning in midchildhood, hypotonia, mental deficiency characteristic craniofacial appearance (antimongoloid slant, open mouth, or prominent central incisors), oral and ocular anomalies, and tapering extremities with narrow hands and…

  12. Psychological Interventions with AIDS and HIV: Prevention and Treatment.

    ERIC Educational Resources Information Center

    Kelly, Jeffrey A.; Murphy, Debra A.

    1992-01-01

    Notes that research to date has yielded important findings for primary prevention efforts for Acquired Immune Deficiency Syndrome (AIDS) and has identified psychological dimensions relevant to mental health interventions for persons with human immunodeficiency virus (HIV). Sees pressing need for more systematic intervention outcome research in…

  13. Seasons: The National Native American AIDS Prevention Center Quarterly. 1993.

    ERIC Educational Resources Information Center

    Rush, Andrea Green, Ed.

    1993-01-01

    The three 1993 issues of "Seasons" (the Spring/Summer issues are combined) address various aspects of dealing with Acquired Immune Deficiency Syndrome (AIDS) and Human Immunodeficiency Virus (HIV) among Native Americans. The Winter issue focuses on tuberculosis (TB) and its incidence and treatment among HIV-positive individuals. "Remembering…

  14. Are Victims of AIDS 'Handicapped' under Federal Law?

    ERIC Educational Resources Information Center

    Flygare, Thomas J.

    1986-01-01

    Discusses whether the disease AIDS (Acquired Immune Deficiency Syndrome) could be considered a "handicap." Describes a recent court decision, "Arline vs. School Board of Nassau County," in which the court found that a teacher with tuberculosis could be defined as handicapped and that her dismissal was in violation of Section 504 of the…

  15. AIDS Education: Does It Change Attitudes toward Gay Men?

    ERIC Educational Resources Information Center

    Slusher, Morgan P.; Anderson, Craig A.

    Two studies were conducted to examine how attitudes toward homosexual men might affect reactions to Acquired Immune Deficiency Syndrome (AIDS) education efforts, or how those attitudes might be changed by those efforts. The first study involved 69 male and 75 female subjects, randomly assigned to four conditions receiving different information…

  16. Planning, Implementation, and Evaluation of AIDS Education Programs for Dentists.

    ERIC Educational Resources Information Center

    Gerbert, Barbara; And Others

    1991-01-01

    An office-based continuing education program on acquired immune deficiency syndrome (AIDS) for dentists is described, including needs assessment, model development, local piloting, national implementation with 119 dentists, and evaluation phases. Program evaluation indicated an improvement in risk perception, knowledge, and practice resulted, but…

  17. Future Directions: HIV/AIDS Education in the Nation's Schools.

    ERIC Educational Resources Information Center

    Sex Information and Education Council of the United States, Inc., New York, NY.

    While states have developed the infrastructure to support effective education programs on Human Immunodeficiency Virus/Acquired Immune Deficiency Syndrome (HIV/AIDS), inadequacies exist in the content of curricula, guidelines, and program design. Many state programs fail to provide children with all the information they need in order to avoid and…

  18. Medical Students' Perceptions and Proposed Treatment Strategies for AIDS Patients.

    ERIC Educational Resources Information Center

    Ladany, Nicholas; Stern, Marilyn

    Research has consistently found that health care providers report having negative attitudes and perceptions toward Acquired Immune Deficiency Syndrome (AIDS) patients. This study was conducted to examine the independent and joint influences of a patient's mode of acquisition of illness (blood transfusion versus sexual promiscuity), patient blame…

  19. Illusions of Immortality: The Confrontation of Adolescence and AIDS.

    ERIC Educational Resources Information Center

    New York State Dept. of Health, Albany.

    Acquired Immune Deficiency Syndrome (AIDS) is a potent and a present danger for teenagers, casting a dark shadow over their lives now and in the future. A small, but significant, number of teenagers will develop Human Immune Virus (HIV)-related illness before they turn 20; a far greater number will become infected with the virus during…

  20. The Creative Use of Psychotherapy with Terminally Ill with AIDS.

    ERIC Educational Resources Information Center

    Fraenkel, William A.

    One clinical psychologist worked with terminally ill, end-stage Acquired Immune Deficiency Syndrome (AIDS) patients in a hospice type setting for an 18-month time period. Interventions included individual psychotherapy, mental status assessments, staff group sessions, and supportive services for families and significant others. During that time,…

  1. Victims of AIDS: Family, Society, Cost and Outlook.

    ERIC Educational Resources Information Center

    Peyton, Doris F.

    Acquired Immune Deficiency Syndrome (AIDS) has become an increasing problem throughout the nation. Experts predict that there will have been 270,000 cases, including 179,000 deaths, by 1991. The disease has devastating psychosocial as well as physical effects. Neither preventive medicine nor a cure is anywhere in sight. Everyone needs to be…

  2. Epidemiology of HIV Infection and AIDS in the United States.

    ERIC Educational Resources Information Center

    Curran, James W.; And Others

    1988-01-01

    Reports that by the end of 1987, nearly 50,000 cases of acquired immune deficiency syndrome (AIDS) had been reported in the United States since 1981, with 20,745 in 1987 alone. Discusses the disordinate proportion of cases involving black and Hispanic adults and children. (TW)

  3. AIDS: An Inter-Disciplinary Secondary Curriculum Supplement.

    ERIC Educational Resources Information Center

    Carr, Marianne

    This curriculum guide to teaching secondary students about Acquired Immune Deficiency Syndrome (AIDS) using an interdisciplinary approach includes lessons that are meant to supplement the existing curriculum, but may be used to supplant existing lessons. Most of the lessons employ the investigative approach to learning and require student…

  4. AIDS on Campus: Emerging Issues for College and University Administrators.

    ERIC Educational Resources Information Center

    Steinbach, Sheldon Elliot

    Legal information concerning Acquired Immune Deficiency Syndrome (AIDS) that college presidents may find helpful in establishing policies and procedures is provided in a paper by the general counsel of the American Council on Education. Sources of medical information, including the American College Health Association, hotlines, and federal…

  5. AIDS Resource Directory and Repertoire de ressources sur le SIDA.

    ERIC Educational Resources Information Center

    Department of National Health and Welfare, Ottawa (Ontario).

    This set of documents presents directories of resources on the topic of Acquired Immune Deficiency Syndrome (AIDS) available in Canada in English and in French. The first section in each directory contains a list of names, addresses, and telephone numbers of organizations from which readers may obtain the listed resources. Resources are then…

  6. Teaching about AIDS/HIV Disease to College Students.

    ERIC Educational Resources Information Center

    Heller, Joseph R.

    This paper presents a psychology professor's account of his experiences teaching a course on Acquired Immune Deficiency Syndrome/Human Immunodeficiency Virus (AIDS/HIV) to college students. The first section discusses how to introduce and market the course on campus, and anticipate students' and colleagues' questions about one's motivations for…

  7. Facilitating Support Groups for Professionals Working with People with AIDS.

    ERIC Educational Resources Information Center

    Grossman, Arnold H.; Silverstein, Charles

    1993-01-01

    Describes support groups for health care professionals who work with people with human immunodeficiency virus (HIV) or Acquired Immune Deficiency Syndrome (AIDS) and who are experiencing burnout from excessive demands on their energy, strength, and resources. Discusses group administration, effective intervention techniques, and issues of health…

  8. The Impact of AIDS on Recruitment in the Health Professions.

    ERIC Educational Resources Information Center

    Buccelli, Pamela B.; And Others

    1991-01-01

    A survey of 914 Philadelphia high school students (77 percent response) concerned their knowledge and attitudes toward acquired immune deficiency syndrome (AIDS) and the health professions. Results showed that most respondents had a good basic understanding of the transmission of the virus but they did not know or understand the health…

  9. Campuses Confront AIDS: Tapping the Vitality of Caring and Community.

    ERIC Educational Resources Information Center

    Keeling, Richard P.

    1993-01-01

    In response to needs created by the acquired immune deficiency syndrome (AIDS) epidemic, colleges and universities have struggled to develop or redesign policies and services to promote behavioral change. Effective institutional response requires comprehensive policy, services and referral, and education and prevention focusing on identity and…

  10. Computer-Assisted Instruction in AIDS Infection Control for Physicians.

    ERIC Educational Resources Information Center

    Garrett, T. J.; And Others

    1990-01-01

    A microcomputer program to provide health care workers with instruction in Acquired Immune Deficiency Syndrome (AIDS) infection control was assessed by medical residents. The experimental group (n=24) acquired more knowledge than controls (n=33). Response to the method was positive, and computer-assisted instruction is seen as useful for AIDS…

  11. Guidelines on AIDS in Europe. First Revised Edition.

    ERIC Educational Resources Information Center

    Zoffmann, H.; And Others

    The problem of acquired immune deficiency syndrome (AIDS) in Europe and public health measures that can be taken to reduce the spread of infection are discussed. These guidelines cover: the magnitude of the problem in Europe, the virus and its mode of transmission, major clinical features of the disease, laboratory tests, possibilities of…

  12. Gambling with Your Health: Predictors of Risk for AIDS.

    ERIC Educational Resources Information Center

    Lasorsa, Dominic L.; Shoemaker, Pamela J.

    To examine risk for Acquired Immune Deficiency Syndrome (AIDS) in terms of risk-related behaviors, and to investigate the factors that may be involved in putting one at risk, a study conducted telephone interviews with 493 randomly selected adults (18 years or older) in Austin, Texas in the fall of 1987. Respondents answered approximately 40…

  13. Confronting AIDS. Directions for Public Health, Health Care, and Research.

    ERIC Educational Resources Information Center

    Institute of Medicine (NAS), Washington, DC.

    This book is addressed to anyone involved with or affected by the Acquired Immune Deficiency Syndrome (AIDS) epidemic, including legislators, researchers, health care personnel, insurance providers, educators, health officials, executives in the pharmaceutical industry, blood bank administrators, and other concerned individuals. The following…

  14. Political Reflections on AIDS and Developmental Disabilities: Conference Keynote Address.

    ERIC Educational Resources Information Center

    Westmorland, Timothy M.

    1989-01-01

    The keynote address of a November, 1988, symposium on developmental disabilities and the HIV (Human Immunodeficiency Virus) examines four basic areas of AIDS (Acquired Immune Deficiency Syndrome) concern in Congress: research, education, testing and discrimination protection, and health care services. (DB)

  15. Criteria for Evaluating an AIDS Curriculum. Third Edition.

    ERIC Educational Resources Information Center

    National Coalition of Advocates for Students, Boston, MA.

    This booklet presents a set of criteria that can be used to evaluate and compare curricula for the teaching of Acquired Immune Deficiency Syndrome (AIDS) and Human Immunodeficiency Virus (HIV). The criteria are arranged in a checklist covering curriculum content and curriculum development/implementation. The booklet discusses developmental…

  16. Drug Use and AIDS Risk in a Soup Kitchen Population.

    ERIC Educational Resources Information Center

    Schilling, Robert F.; And Others

    1992-01-01

    Interviewed 148 drug users in urban soup kitchen. Focused on subjects' risk-taking and risk-reduction behavior related to injection drug use, perceived changes in risk behavior, perceived risk for contracting Acquired Immune Deficiency Syndrome (AIDS), and socioeconomic and attitudinal correlates of injecting and sharing needles. Findings…

  17. AIDS: New Challenge to the Counseling Psychologist in Private Practice.

    ERIC Educational Resources Information Center

    Fradkin, Howard R.

    Counseling psychologists, especially those who work with homosexual men, may find that Acquired Immune Deficiency Syndrome (AIDS) is a major focus of their work. Therapists must be comfortable talking explicitly with these clients about sex, and must be able to help clients talk explicitly about their behavior. Clients often feel ambivalent about…

  18. AIDS: Lay Perceptions of a Group of Gay Men.

    ERIC Educational Resources Information Center

    Schurink, Evanthe; Schurink, W. J.

    A research design was devised that allowed for the employment of a combination of qualitative and quantitative methods in the collection of data on a group of homosexual men's lay perceptions of Acquired Immune Deficiency Syndrome (AIDS), and those social processes at work in coping with the threat of this terminal disease. The research was…

  19. Searching for Objectivity and Prejudice in Writing about AIDS.

    ERIC Educational Resources Information Center

    Luboff, Gerald F.

    Three writing assignments not only gave students the opportunity to practice various rhetorical approaches in the assignments, but also provided students a learning opportunity and a chance to explore their own attitudes towards the problems and issues raised by the Acquired Immune Deficiency Syndrome (AIDS) crisis. The first assignment involved…

  20. Indiana AIDS Prevention Plan, 1986. Version 1.0.

    ERIC Educational Resources Information Center

    Indiana State Board of Health, Indianapolis.

    The Indiana statewide Acquired Immune Deficiency Syndrome (AIDS) prevention plan focuses on community education efforts targeted for specific high risk groups as well as health care and other professionals. Plans are summarized for dissemination of information to the following groups: risk groups, physicians, dental health, nursing, ancillary…

  1. AIDS Epidemic. Hearing before the Committee on Labor and Human Resources. United States Senate, One Hundredth Congress, First Session on Reviewing Federal Efforts Being Conducted toward Combating the AIDS Epidemic.

    ERIC Educational Resources Information Center

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

    The text of a Senate hearing called to review federal efforts combating acquired immune deficiency syndrome (AIDS) is presented in this document. Opening statements reviewing the AIDS crisis are given by Senators Edward Kennedy and Lowell Weicker, Jr. Prepared statements are included by Senators Orrin Hatch and Ted Stevens. David Baltimore and…

  2. Hypothesis: new concepts concerning the pathophysiology of the sudden infant death syndrome due to magnesium deficiency shock.

    PubMed

    Caddell, J L

    1992-09-01

    There appear to be many contributing factors to sudden infant death syndrome (SIDS). One final common pathway that may explain some cases of SIDS is presented as a hypothesis: SIDS occurs as a shock-like event in a stressed infant with congenital or acquired magnesium deficiency with respect to calcium, or with genetically determined high magnesium requirements. Increased calcium and stress-related catecholamines favour platelet aggregation and release of mediators, chief of which appears to be thromboxane A2 (TXA2). TXA2, a major vasoconstrictor, bronchoconstrictor, and platelet aggregator is relatively unopposed during shock by prostacyclin, a vasodilator, bronchodilator, and platelet disaggregator which normally counterbalances its effects. The shock episode is self-limited. Infants who recover have suffered an apparent life threatening event (ALTE); those who die have insufficient pathology to explain the cause of death; the diagnosis is SIDS. PMID:1467153

  3. Thiamine Deficiency in Self-Induced Refeeding Syndrome, an Undetected and Potentially Lethal Condition

    PubMed Central

    Hershkowitz, Einat; Reshef, Alon; Munich, Olga; Yosefi, Bracha; Markel, Arie

    2014-01-01

    Rapid restoration of nutrients and electrolytes after prolonged starvation could result in a life threatening condition characterized by sensory and neurological dysfunction and severe metabolic imbalance that has been designated as refeeding syndrome. Its diagnosis is frequently missed resulting in severe complications and even death. We describe a 25-years-old female patient with mental disorders and severe malnutrition who developed severe clinical manifestations and biochemical abnormalities characteristic of the refeeding syndrome, after restarting oral feeding on her own. Schizophrenia was later diagnosed. Increased awareness of this condition and its complications is necessary to prevent its detrimental complications. PMID:25614745

  4. AIDS:Information on Global Dimensions and Possible Impacts. Fact Sheet to the Honorable Jesse Helms, U.S. Senate.

    ERIC Educational Resources Information Center

    General Accounting Office, Washington, DC.

    Information is provided on the impact of the Human Immunodeficiency Virus (HIV) and Acquired Immune Deficiency Syndrome (AIDS) on world population and demographics and the likely effects of AIDS on Zaire. The views of United States and World Health Organization (WHO) officials were obtained on regional differences in the incidence and natural…

  5. How Can You Teach Middle Grade Students about the Effects of AIDS and the HIV Virus in a Conservative Community?

    ERIC Educational Resources Information Center

    Ferrand, Shirley; Wattenbarger, Barbara

    This paper describes an interdisciplinary approach to conveying knowledge and promoting understanding of the disease of Acquired Immune Deficiency Syndrome (AIDS) at the middle school level in a conservative community. Discussion of AIDS was included in a sixth grade unit on communicable diseases designed to teach how diseases are transmitted, how…

  6. Perceived Control, Specific At-Risk and General Fear of AIDS: Intraracial Variation among African American College Students.

    ERIC Educational Resources Information Center

    Livingston, Ivor Lensworth; Johnson, Theodora E. Maxwell

    1991-01-01

    Explores relationships between perceived control of life of 375 African-American college students and both specific and general fears of Acquired Immune Deficiency Syndrome (AIDS). African-American students have relatively variable responses, but feeling in control is related to lower levels of specific and general fears of AIDS. (SLD)

  7. Health Care and the Social Construction of AIDS: Impact of Disease Definitions on Psychosocial Adaptation and Economic Circumstances.

    ERIC Educational Resources Information Center

    Crystal, Stephen; Jackson, Marguerite

    As with other illnesses, Acquired Immune Deficiency Syndrome (AIDS) is a socially constructed phenomenon, not simply a biological entity. Biologically, Human Immunodeficiency Virus (HIV) infection causes immunosuppression, which in turn causes a spectrum of disease states. The official definition of AIDS by the Centers for Disease Control requires…

  8. Mass Media Messages, Myths and Martyrs: Analyzing "America Responds to AIDS" Public Service Announcements, 1987-1992.

    ERIC Educational Resources Information Center

    Swanson, Douglas J.

    Focusing on the federal government's efforts to educate the public to the dangers of Acquired Immune Deficiency Syndrome (AIDS), a study examined "America Responds to AIDS" public service announcements (PSA's) through a traditional rhetorical analysis (PSA characters, plot, pace, tone, and message design). Forty-four English-language television…

  9. The Tuskegee Syphilis Study, 1932 to 1972: Implications for HIV Education and AIDS Risk Education Programs in the Black Community.

    ERIC Educational Resources Information Center

    Thomas, Stephen B.; Quinn, Sandra Crouse

    1991-01-01

    The Tuskegee study of untreated syphilis in black males caused distrust by blacks of the public health system that has implications for Acquired Immune Deficiency Syndrome (AIDS) and Human Immunodeficiency Virus (HIV) studies. AIDS prevention among blacks may require openness about the Tuskegee study to allay fears of repetition. (SLD)

  10. [Coinfection of Mycobacterium malmoense and Mycobacterium tuberculosis in a patient with acquired inmune deficiency syndrome].

    PubMed

    Mederos Cuervo, Lilian María; Reyes Pérez, Angélica; Valdes Alonso, Lidunka; Rodríguez Delgado, Francisco; Sardiñas Aragón, Misleydis; Martínez Romero, María Rosarys; Díaz Romero, Raúl

    2014-01-01

    A case is presented of coinfection with Mycobacterium malmoense and Mycobacterium tuberculosis in a Cuban patient with AIDS which produced respiratory and liver disease respectively. Cultures done from sputum samples showed the presence of a non-pigmented, slow growing mycobacterial strain belonging to Runyon group III and identified as Mycobacterium malmoense. From cultures of liver tissue removed laparoscopically, a strain was isolated and subsequently identified as Mycobacterium tuberculosis. Anatomapathologic examination confirmed the diagnosis of tuberculosis, the patient received specific treatment and had a favorable clinical course. This report of a rare case of coinfection of Mycobacterium describes the first report of hepatic tuberculosis in a patient with AIDS in Cuba. PMID:25597735

  11. Representation of AIDS in Televised Public Service Announcements: The Discursive Practices of Government in the Constitution of Knowledge about AIDS.

    ERIC Educational Resources Information Center

    Myrick, Roger; And Others

    Using a textualist approach (looking at meaning above and beyond overt message elements), a study examined televised public service announcements (PSAs) about Acquired Immune Deficiency Syndrome (AIDS) produced by the Ad Council and the United States Department of Health and Human Services. Both ads identify young people who should be concerned…

  12. Strategies to contain the spread of AIDS: A review.

    PubMed

    Okpara, R A

    1992-01-01

    An attempt has been made to review the available strategies to contain the spread of the Acquired Immunodeficiency Syndrome (AIDS). Also options for clinical management of AIDS' patients are summarized. Development and production of a suitable vaccine is the ultimate goal in the attempts to stop the spread of AIDS. This however has been hampered by the continuous replication and mutation of the Human Immuno-deficiency Virus (HIV) within the body of an infected person. For now, effective health education is the most realistic method of controlling the spread of AIDS. PMID:1476970

  13. The epidemiology of disseminated nontuberculous mycobacterial infection in the acquired immunodeficiency syndrome (AIDS).

    PubMed

    Horsburgh, C R; Selik, R M

    1989-01-01

    We analyzed cases of disseminated nontuberculous mycobacterial infection (DNTM) in patients with AIDS reported to the Centers for Disease Control. Between 1981 and 1987, 2,269 cases were reported. In 96% of cases, infection was caused by M. avium complex (MAC). The number of cases has risen steadily since 1981, but the rate as a percentage of AIDS cases has remained stable at 5.5%. DNTM was seen less frequently in AIDS cases with Kaposi's sarcoma than in other AIDS cases (p less than 0.01). Rates of DNTM were lower in Hispanics and declined with age but were not significantly different by patient sex or means of acquiring HIV infection. Rates of disseminated MAC varied by geographic region from 3.9% to 7.8% (p less than 0.0001). As assessed by helper/suppressor T-cell ratios, AIDS patients with DNTM were not more immunologically impaired than those with other opportunistic infections. Life table analysis revealed that AIDS patients with DNTM survived a shorter time (median, 7.4 months) than did other AIDS patients (median, 13.3 months; p less than 0.0001). We conclude that DNTM is acquired by unpreventable environmental exposures. Because DNTM adversely affects survival of AIDS patients, effective therapeutic agents must be vigorously sought. PMID:2912355

  14. An integrated metabonomic and proteomic study on Kidney-Yin Deficiency Syndrome patients with diabetes mellitus in China

    PubMed Central

    Jiang, Ning; Liu, Hong-fang; Li, Si-di; Zhou, Wen-xia; Zhang, Yong-xiang; Zhang, Qi; Yan, Xian-zhong

    2015-01-01

    Aim: To investigate specific changes in metabolites and proteins of Kidney-Yin Deficiency Syndrome (KYDS) patients with diabetes mellitus (DM) in China. Methods: KYDS (n=29) and non-KYDS (n=23) patients with DM were recruited for this study. The KYDS was diagnosed by two senior TCM clinicians separately. The metabonomic and proteomic profiles of the patients were assessed using a metabonomic strategy based on NMR with multivariate analysis and a proteomic strategy based on MALDI-TOF-MS, respectively. Results: Eighteen upregulated peptides and thirty downregulated peptides were observed in the plasma of the KYDS patients. Comparing the proteomic profiles of the KYDS and non-KYDS groups, however, no significantly differentially expressed peptides were found. At the same time, major metabolic alterations were found to distinguish the two groups, including eight significantly changed metabolites (creatinine, citrate, TMAO, phenylalanine, tyrosine, alanine, glycine and taurine). The levels of creatinine, citrate, TMAO, phenylalanine and tyrosine were decreased, whereas the levels of alanine, glycine and taurine were increased in the KYDS patients. These biochemical changes were found to be associated with alterations in amino acid metabolism, energy metabolism and gut microflora. Conclusion: The identification of distinct expression profiles of metabolites and signaling pathways in KYDS patients with DM suggests that there are indeed molecular signatures underlying the principles of 'Syndrome Differentiation' in traditional Chinese medicine. PMID:25937635

  15. MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function.

    PubMed

    Grill, Christine; Bergsteinsdóttir, Kristín; Ogmundsdóttir, Margrét H; Pogenberg, Vivian; Schepsky, Alexander; Wilmanns, Matthias; Pingault, Veronique; Steingrímsson, Eiríkur

    2013-11-01

    The basic-helix-loop-helix-leucine zipper (bHLHZip) protein MITF (microphthalmia-associated transcription factor) is a master regulator of melanocyte development. Mutations in the MITF have been found in patients with the dominantly inherited hypopigmentation and deafness syndromes Waardenburg syndrome type 2A (WS2A) and Tietz syndrome (TS). Additionally, both somatic and germline mutations have been found in MITF in melanoma patients. Here, we characterize the DNA-binding and transcription activation properties of 24 MITF mutations found in WS2A, TS and melanoma patients. We show that most of the WS2A and TS mutations fail to bind DNA and activate expression from melanocyte-specific promoters. Some of the mutations, especially R203K and S298P, exhibit normal activity and may represent neutral variants. Mutations found in melanomas showed normal DNA-binding and minor variations in transcription activation properties; some showed increased potential to form colonies. Our results provide molecular insights into how mutations in a single gene can lead to such different phenotypes. PMID:23787126

  16. MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function

    PubMed Central

    Grill, Christine; Bergsteinsdóttir, Kristín; Ögmundsdóttir, Margrét H.; Pogenberg, Vivian; Schepsky, Alexander; Wilmanns, Matthias; Pingault, Veronique; Steingrímsson, Eiríkur

    2013-01-01

    The basic-helix–loop–helix-leucine zipper (bHLHZip) protein MITF (microphthalmia-associated transcription factor) is a master regulator of melanocyte development. Mutations in the MITF have been found in patients with the dominantly inherited hypopigmentation and deafness syndromes Waardenburg syndrome type 2A (WS2A) and Tietz syndrome (TS). Additionally, both somatic and germline mutations have been found in MITF in melanoma patients. Here, we characterize the DNA-binding and transcription activation properties of 24 MITF mutations found in WS2A, TS and melanoma patients. We show that most of the WS2A and TS mutations fail to bind DNA and activate expression from melanocyte-specific promoters. Some of the mutations, especially R203K and S298P, exhibit normal activity and may represent neutral variants. Mutations found in melanomas showed normal DNA-binding and minor variations in transcription activation properties; some showed increased potential to form colonies. Our results provide molecular insights into how mutations in a single gene can lead to such different phenotypes. PMID:23787126

  17. Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease.

    PubMed

    Lohr, Naomi J; Molleston, Jean P; Strauss, Kevin A; Torres-Martinez, Wilfredo; Sherman, Eric A; Squires, Robert H; Rider, Nicholas L; Chikwava, Kudakwashe R; Cummings, Oscar W; Morton, D Holmes; Puffenberger, Erik G

    2010-03-12

    Ubiquitin ligases play an important role in the regulation of the immune system. Absence of Itch E3 ubiquitin ligase in mice has been shown to cause severe autoimmune disease. Using autozygosity mapping in a large Amish kindred, we identified a linkage region on chromosome 20 and selected candidate genes for screening. We describe, in ten patients, identification of a mutation resulting in truncation of ITCH. These patients represent the first reported human phenotype associated with ITCH deficiency. These patients not only have multisystem autoimmune disease but also display morphologic and developmental abnormalities. This disorder underscores the importance of ITCH ubiquitin ligase in many cellular processes. PMID:20170897

  18. Human ITCH E3 Ubiquitin Ligase Deficiency Causes Syndromic Multisystem Autoimmune Disease

    PubMed Central

    Lohr, Naomi J.; Molleston, Jean P.; Strauss, Kevin A.; Torres-Martinez, Wilfredo; Sherman, Eric A.; Squires, Robert H.; Rider, Nicholas L.; Chikwava, Kudakwashe R.; Cummings, Oscar W.; Morton, D. Holmes; Puffenberger, Erik G.

    2010-01-01

    Ubiquitin ligases play an important role in the regulation of the immune system. Absence of Itch E3 ubiquitin ligase in mice has been shown to cause severe autoimmune disease. Using autozygosity mapping in a large Amish kindred, we identified a linkage region on chromosome 20 and selected candidate genes for screening. We describe, in ten patients, identification of a mutation resulting in truncation of ITCH. These patients represent the first reported human phenotype associated with ITCH deficiency. These patients not only have multisystem autoimmune disease but also display morphologic and developmental abnormalities. This disorder underscores the importance of ITCH ubiquitin ligase in many cellular processes. PMID:20170897

  19. GLUT1 deficiency syndrome as a cause of encephalopathy that includes cognitive disability, treatment-resistant infantile epilepsy and a complex movement disorder

    PubMed Central

    Graham, John M.

    2012-01-01

    Glucose transporter-1 (GLUT1) deficiency syndrome is caused by heterozygous mutations in the SLC2A1 gene, resulting in impaired glucose transport into the brain. It is characterized by a low glucose concentration in the cerebrospinal fluid (hypoglycorrhachia) in the absence of hypoglycemia, in combination with low to normal lactate in the cerebrospinal fluid (CSF). It often results in treatment-resistant infantile epilepsy with progressive developmental disabilities and a complex movement disorder. Recognizing GLUT1 deficiency syndrome is important, since initiation of a ketogenic diet can reduce the frequency of seizures and the severity of the movement disorder. There can be a considerable delay in diagnosing GLUT1 deficiency syndrome, and this point is illustrated by the natural history of this disorder in a 21-year-old woman with severe, progressive neurological disabilities. Her encephalopathy consisted of treatment-resistant seizures, a complex movement disorder, progressive intellectual disability, and deceleration of her head growth after late infancy. Focused evaluation at age 21 revealed GLUT1 deficiency caused by a novel heterozygous missence mutation in exon 7 (c.938C > A; p.Ser313Try) in SLC2A1 as the cause for her disabilities. PMID:22212417

  20. Deleterious Mutations in LRBA Are Associated with a Syndrome of Immune Deficiency and Autoimmunity

    PubMed Central

    Lopez-Herrera, Gabriela; Tampella, Giacomo; Pan-Hammarström, Qiang; Herholz, Peer; Trujillo-Vargas, Claudia M.; Phadwal, Kanchan; Simon, Anna Katharina; Moutschen, Michel; Etzioni, Amos; Mory, Adi; Srugo, Izhak; Melamed, Doron; Hultenby, Kjell; Liu, Chonghai; Baronio, Manuela; Vitali, Massimiliano; Philippet, Pierre; Dideberg, Vinciane; Aghamohammadi, Asghar; Rezaei, Nima; Enright, Victoria; Du, Likun; Salzer, Ulrich; Eibel, Hermann; Pfeifer, Dietmar; Veelken, Hendrik; Stauss, Hans; Lougaris, Vassilios; Plebani, Alessandro; Gertz, E. Michael; Schäffer, Alejandro A.; Hammarström, Lennart; Grimbacher, Bodo

    2012-01-01

    Most autosomal genetic causes of childhood-onset hypogammaglobulinemia are currently not well understood. Most affected individuals are simplex cases, but both autosomal-dominant and autosomal-recessive inheritance have been described. We performed genetic linkage analysis in consanguineous families affected by hypogammaglobulinemia. Four consanguineous families with childhood-onset humoral immune deficiency and features of autoimmunity shared genotype evidence for a linkage interval on chromosome 4q. Sequencing of positional candidate genes revealed that in each family, affected individuals had a distinct homozygous mutation in LRBA (lipopolysaccharide responsive beige-like anchor protein). All LRBA mutations segregated with the disease because homozygous individuals showed hypogammaglobulinemia and autoimmunity, whereas heterozygous individuals were healthy. These mutations were absent in healthy controls. Individuals with homozygous LRBA mutations had no LRBA, had disturbed B cell development, defective in vitro B cell activation, plasmablast formation, and immunoglobulin secretion, and had low proliferative responses. We conclude that mutations in LRBA cause an immune deficiency characterized by defects in B cell activation and autophagy and by susceptibility to apoptosis, all of which are associated with a clinical phenotype of hypogammaglobulinemia and autoimmunity. PMID:22608502

  1. Behavioral intervention to reduce AIDS risk activities.

    PubMed

    Kelly, J A; St Lawrence, J S; Hood, H V; Brasfield, T L

    1989-02-01

    Behavior change can curtail the spread of acquired immune deficiency syndrome (AIDS). In this study, 104 gay men with a history of frequent AIDS high-risk behavior completed self-report, self-monitoring, and behavioral measures related to AIDS risk. The sample was randomly divided into experimental and waiting-list control groups. The experimental intervention provided AIDS risk education, cognitive-behavioral self-management training, sexual assertion training, and attention to the development of steady and self-affirming social supports. Experimental group participants greatly reduced their frequency of high-risk sexual practices and increased behavioral skills for refusing sexual coercions, AIDS risk knowledge, and adoption of "safer sex" practices. Change was maintained at the 8-month follow-up. PMID:2925974

  2. Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation

    PubMed Central

    Handley, Mark T.; Carpanini, Sarah M.; Mali, Girish R.; Sidjanin, Duska J.; Aligianis, Irene A.; Jackson, Ian J.; FitzPatrick, David R.

    2015-01-01

    RAB18, RAB3GAP1, RAB3GAP2 and TBC1D20 are each mutated in Warburg Micro syndrome, a rare autosomal recessive multisystem disorder. RAB3GAP1 and RAB3GAP2 form a binary ‘RAB3GAP’ complex that functions as a guanine-nucleotide exchange factor (GEF) for RAB18, whereas TBC1D20 shows modest RAB18 GTPase-activating (GAP) activity in vitro. Here, we show that in the absence of functional RAB3GAP or TBC1D20, the level, localization and dynamics of cellular RAB18 is altered. In cell lines where TBC1D20 is absent from the endoplasmic reticulum (ER), RAB18 becomes more stably ER-associated and less cytosolic than in control cells. These data suggest that RAB18 is a physiological substrate of TBC1D20 and contribute to a model in which a Rab-GAP can be essential for the activity of a target Rab. Together with previous reports, this indicates that Warburg Micro syndrome can be caused directly by loss of RAB18, or indirectly through loss of RAB18 regulators RAB3GAP or TBC1D20. PMID:26063829

  3. Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation.

    PubMed

    Handley, Mark T; Carpanini, Sarah M; Mali, Girish R; Sidjanin, Duska J; Aligianis, Irene A; Jackson, Ian J; FitzPatrick, David R

    2015-06-01

    RAB18, RAB3GAP1, RAB3GAP2 and TBC1D20 are each mutated in Warburg Micro syndrome, a rare autosomal recessive multisystem disorder. RAB3GAP1 and RAB3GAP2 form a binary 'RAB3GAP' complex that functions as a guanine-nucleotide exchange factor (GEF) for RAB18, whereas TBC1D20 shows modest RAB18 GTPase-activating (GAP) activity in vitro. Here, we show that in the absence of functional RAB3GAP or TBC1D20, the level, localization and dynamics of cellular RAB18 is altered. In cell lines where TBC1D20 is absent from the endoplasmic reticulum (ER), RAB18 becomes more stably ER-associated and less cytosolic than in control cells. These data suggest that RAB18 is a physiological substrate of TBC1D20 and contribute to a model in which a Rab-GAP can be essential for the activity of a target Rab. Together with previous reports, this indicates that Warburg Micro syndrome can be caused directly by loss of RAB18, or indirectly through loss of RAB18 regulators RAB3GAP or TBC1D20. PMID:26063829

  4. Impaired hippocampal plasticity and altered neurogenesis in adult Ube3a maternal deficient mouse model for Angelman syndrome.

    PubMed

    Mardirossian, Sandrine; Rampon, Claire; Salvert, Denise; Fort, Patrice; Sarda, Nicole

    2009-12-01

    Angelman syndrome (AS) is a severe neurodevelopmental disorder characterized by mental retardation, seizures and sleep disturbances. It results from lack of the functional maternal allele of UBE3A gene. Ube3a maternal-deficient mice (Ube3a m-/p+), animal models for AS, are impaired in hippocampal-dependent learning tasks as compared with control (Ube3a m+/p+) mice. We first examined the basal expression of immediate early genes which expression is required for synaptic plasticity and memory formation. We found that basal expression of c-fos and Arc genes is reduced in the DG of Ube3a maternal deficient mice compared to their non-transgenic littermates. We then examined whether adult hippocampal neurogenesis, which likely serves as a mechanism toward brain plasticity, is altered in these transgenic mice. Neurogenesis occurs throughout life in mammalian dentate gyrus (DG) and recent findings suggest that newborn granule cells are involved in some forms of learning and memory. Whether maternal Ube3a deletion is detrimental on hippocampal neurogenesis is unclear. Herein, we show, using the mitotic marker Ki67, the birthdating marker 5-bromo-2'-dexoyuridine (BrdU) and the marker doublecortin (DCX) to respectively label cell proliferation, cell survival or young neuron production, that the Ube3a maternal deletion does not affect the proliferation nor the survival of newborn cells in the hippocampus. In contrast, using the postmitotic neuronal marker (NeuN), we show that Ube3a maternal deletion is associated with a lower fraction of BrdU+/NeuN+ newborn neurons among the population of surviving new cells in the hippocampus. Collectively, these findings suggest that some aspects of adult neurogenesis and plasticity are affected by Ube3a deletion and may contribute to the hippocampal dysfunction observed in AS mice. PMID:19782683

  5. Multifactorial Origins of Heart and Gut Defects in nipbl-Deficient Zebrafish, a Model of Cornelia de Lange Syndrome

    PubMed Central

    Muto, Akihiko; Calof, Anne L.

    2011-01-01

    Cornelia de Lange Syndrome (CdLS) is the founding member of a class of multi-organ system birth defect syndromes termed cohesinopathies, named for the chromatin-associated protein complex cohesin, which mediates sister chromatid cohesion. Most cases of CdLS are caused by haploinsufficiency for Nipped-B-like (Nipbl), a highly conserved protein that facilitates cohesin loading. Consistent with recent evidence implicating cohesin and Nipbl in transcriptional regulation, both CdLS cell lines and tissues of Nipbl-deficient mice show changes in the expression of hundreds of genes. Nearly all such changes are modest, however—usually less than 1.5-fold—raising the intriguing possibility that, in CdLS, severe developmental defects result from the collective action of many otherwise innocuous perturbations. As a step toward testing this hypothesis, we developed a model of nipbl-deficiency in zebrafish, an organism in which we can quantitatively investigate the combinatorial effects of gene expression changes. After characterizing the structure and embryonic expression of the two zebrafish nipbl genes, we showed that morpholino knockdown of these genes produces a spectrum of specific heart and gut/visceral organ defects with similarities to those in CdLS. Analysis of nipbl morphants further revealed that, as early as gastrulation, expression of genes involved in endodermal differentiation (sox32, sox17, foxa2, and gata5) and left-right patterning (spaw, lefty2, and dnah9) is altered. Experimental manipulation of the levels of several such genes—using RNA injection or morpholino knockdown—implicated both additive and synergistic interactions in causing observed developmental defects. These findings support the view that birth defects in CdLS arise from collective effects of quantitative changes in gene expression. Interestingly, both the phenotypes and gene expression changes in nipbl morphants differed from those in mutants or morphants for genes encoding cohesin

  6. Moderate voluntary exercise attenuates the metabolic syndrome in melanocortin-4 receptor-deficient rats showing central dopaminergic dysregulation☆

    PubMed Central

    Obici, Silvana; Magrisso, I. Jack; Ghazarian, Armen S.; Shirazian, Alireza; Miller, Jonas R.; Loyd, Christine M.; Begg, Denovan P.; Krawczewski Carhuatanta, Kimberly A.; Haas, Michael K.; Davis, Jon F.; Woods, Stephen C.; Sandoval, Darleen A.; Seeley, Randy J.; Goodyear, Laurie J.; Pothos, Emmanuel N.; Mul, Joram D.

    2015-01-01

    Objective Melanocortin-4 receptors (MC4Rs) are highly expressed by dopamine-secreting neurons of the mesolimbic tract, but their functional role has not been fully resolved. Voluntary wheel running (VWR) induces adaptations in the mesolimbic dopamine system and has a myriad of long-term beneficial effects on health. In the present experiments we asked whether MC4R function regulates the effects of VWR, and whether VWR ameliorates MC4R-associated symptoms of the metabolic syndrome. Methods Electrically evoked dopamine release was measured in slice preparations from sedentary wild-type and MC4R-deficient Mc4rK314X (HOM) rats. VWR was assessed in wild-type and HOM rats, and in MC4R-deficient loxTBMc4r mice, wild-type mice body weight-matched to loxTBMc4r mice, and wild-type mice with intracerebroventricular administration of the MC4R antagonist SHU9119. Mesolimbic dopamine system function (gene/protein expression) and metabolic parameters were examined in wheel-running and sedentary wild-type and HOM rats. Results Sedentary obese HOM rats had increased electrically evoked dopamine release in several ventral tegmental area (VTA) projection sites compared to wild-type controls. MC4R loss-of-function decreased VWR, and this was partially independent of body weight. HOM wheel-runners had attenuated markers of intracellular D1-type dopamine receptor signaling despite increased dopamine flux in the VTA. VWR increased and decreased ΔFosB levels in the nucleus accumbens (NAc) of wild-type and HOM runners, respectively. VWR improved metabolic parameters in wild-type wheel-runners. Finally, moderate voluntary exercise corrected many aspects of the metabolic syndrome in HOM runners. Conclusions Central dopamine dysregulation during VWR reinforces the link between MC4R function and molecular and behavioral responding to rewards. The data also suggest that exercise can be a successful lifestyle intervention in MC4R-haploinsufficient individuals despite reduced positive

  7. Importance of blood cultures to aid the diagnosis of Lemierre's syndrome.

    PubMed

    Nejat, Maryam; Werno, Anja

    2015-05-15

    This is a case report of Lemierre's syndrome, a septic thrombophlebitis of the internal jugular vein (IJV) usually preceded by pharyngitis and bacteraemia with an anaerobic organism. Fusobacterium necrophorum is ananaerobic Gram-negative bacillus and is the most common organism reported to cause Lemierre's syndrome which usually occurs one to three weeks post pharyngitis or oropharyngeal surgery. A 21-year-old patient presented with signs of sepsis and a history of sore throat, fever, and tender cervical lymph nodes. Blood cultures grew F. necrophorum and Computed Tomography (CT) showed a filling defect in the left retromandibular vein and thrombosis in the left internal jugular vein (IJV) consistent with Lemierre's syndrome. This is an uncommon condition which normally occurs in young individuals and diagnosis is often delayed. PMID:26117393

  8. How to develop a company AIDS policy.

    PubMed

    Bompey, S H

    1986-07-01

    It is for most businesses only a matter of time before they will have experience with Acquired Immune Deficiency Syndrome (AIDS), and the experience could be very costly for companies which fail to implement an effective AIDS policy. Potential AIDS problems include: antidiscrimination suits based on firing or failing to hire an individual who had AIDS or carries the AIDS virus antibodies; defamation suits from employees who are wrongly identified; disability claims that do not fit the pattern for other diseases; civil rights penalties in some situations when AIDS victims are prevented from working; and run-ins with the Occupational Safety and Health Administration or the National Labor Relations Board if healthy workers refuse to work alongside AIDS victims. A company needs to think through its AIDS policy, but that does not mean establishing a "special" AIDS policy which may create paranoia among employees. The best approach is to develop a health policy that includes all catastrophic illnesses, not just AIDS. There have been few court decisions involving AIDS because AIDS is a recent illness, victims often do not live long enough to pursue the matter, and it often pays to settle AIDS cases out of court. Employers need to know that judges, administrative agencies, and arbitrators take the position that AIDS is a disability. As such, AIDS is treated under the anti-handicap discrimination laws on the books of most states. Additionally, the Federal Rehabilitation Act of 1973 prohibits discrimination against the disabled by companies that contract with the federal government or receive federal financial assistance. It usually is illegal to discriminate against the disabled workers, and in some states against workers who are perceived to have a disability. The best defense against the fear of working alongside and AIDs sufferer is education. PMID:12315303

  9. Scarcity of HIV-AIDS Risk-Reduction Materials Targeting the Needs of Older Adults among State Departments of Public Health

    ERIC Educational Resources Information Center

    Orel, Nancy A.; Wright, Jeanne M.; Wagner, Jennifer

    2004-01-01

    This study investigated the availability of printed human immunodeficiency virus/acquired immune deficiency syndrome (HIV/AIDS) education/prevention materials from state departments of public health within the United States, which specifically targeted the older adult population. Information on HIV/AIDS from public health departments in each of…

  10. A Comparison between a 1986 and 1989 Cohort of Inner-City Adolescent Females on Knowledge, Beliefs, and Risk Factors for AIDS.

    ERIC Educational Resources Information Center

    Weinman, Maxine L.; And Others

    1992-01-01

    Compared responses of inner-city adolescent girls to measures of knowledge, beliefs and risk factors for Acquired Immune Deficiency Syndrome (AIDS) obtained in 1986 (n=205) and in 1989 (n=510). Between 1986 and 1989, number of sexual partners increased whereas concern about AIDS decreased. Those adolescents with most sexual partners also had most…

  11. Continuing Jeopardy: Children and AIDS. A Staff Report of the Select Committee on Children, Youth, and Families. One Hundredth Congress, Second Session.

    ERIC Educational Resources Information Center

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

    The challenges to Congress posed by the threat of Acquired Immune Deficiency Syndrome (AIDS) to children are to support the development of more humane and cost-effective treatment and care, and to stop the spread of the Human Immunodeficiency Virus (HIV). The rate of reported HIV infection and cases of AIDS among children and youth is increasing.…

  12. Condom Advertising and AIDS. Hearing before the Subcommittee on Health and the Environment of the Committee on Energy and Commerce. House of Representatives, One Hundredth Congress, First Session.

    ERIC Educational Resources Information Center

    Congress of the U.S., Washington, DC. House Committee on Energy and Commerce.

    This document present witnesses' testimonies from the Congressional hearing called to examine condom advertising and Acquired Immune Deficiency Syndrome (AIDS). Opening statements are included by Congressmen Henry Waxman, William Dannemeyer, and Jim Bates. C. Everett Koop, United States Surgeon General, and Gary Noble, AIDS coordinator for the…

  13. Risk of Cataract among Subjects with the Acquired Immune Deficiency Syndrome Free of Ocular Opportunistic Infections

    PubMed Central

    Kempen, John H.; Sugar, Elizabeth A.; Varma, Rohit; Dunn, James P.; Heinemann, Murk-Hein; Jabs, Douglas A.; Lyon, Alice T.; Lewis, Richard A.

    2014-01-01

    Purpose To evaluate the risk of cataract in the setting of AIDS. Design Prospective cohort study. Participants Subjects with AIDS free of ocular opportunistic infections throughout catamnesis. Methods During 1998–2008 inclusive, subjects ≥13 years of age were enrolled. Demographic characteristics and clinical characteristics were documented at enrollment and semiannually. Main Outcome Measures Cataract was defined as high-grade lens opacity observed by biomicroscopy and judged to be the cause of a best-corrected visual acuity worse than 20/40. Eyes that underwent cataract surgery during follow-up were considered to have developed cataract prior to the first visit when pseudophakia or aphakia was observed. Results Among 1,606 participants (3,212 eyes), at enrollment 1.9% (95% confidence interval (CI): 1.3%−2.7%) were observed to have cataract or prior cataract surgery. Among the 2,812 eyes initially free of cataract, and followed longitudinally (median follow-up=4.6 years), the incidence of cataract was 0.37%/eye-year (95% CI: 0.26%– 0.53%). In addition to age, significant cataract risk factors included prior cataract in the contralateral eye (adjusted hazard ratio (aHR)=21.6, 95% CI: 10.4–44.8), anterior segment inflammation (aHR=4.40, 95% CI: 1.64–11.9), prior retinal detachment (aHR=4.94, 95% CI: 2.21–11.0), and vitreous inflammation (aHR=7.12, 95% CI: 2.02– 25.0), each studied as a time-updated characteristic. Detectable HIV RNA in peripheral blood was associated with lower risk of cataract at enrollment (adjusted odds ratio=0.32, 95% CI: 0.12–0.80) but not of incident cataract (aHR=1.58, 95% CI: 0.90–2.76). After adjustment for other factors, neither the then current absolute CD4+ T cell count nor antiretroviral therapy status showed consistent association with cataract risk, nor did an additive diagnosis of other other co-morbidities. Compared to the available population-based studies that used similar definitions of cataract, the age

  14. Detection of deleted mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome

    SciTech Connect

    Mita, S.; Schmidt, B.; Schon, E.A.; DiMauro, S.; Bonilla, E. )

    1989-12-01

    Using in situ hybridization and immunocytochemistry, the authors studied a muscle biopsy sample from a patient with Kearns-Sayre syndrome (KSS) who had a deletion of mitochondrial DNA (mtDNA) and partial deficiency of cytochrome-c oxidase. They sought a relationship between COX deficiency and abnormalities of mtDNA at the single-fiber level. COX deficiency clearly correlated with a decrease of normal mtDNA and, conversely, deleted mtDNA was more abundant in COX-deficient fibers, especially ragged-red fibers. The distribution of mtRNA has a similar pattern, suggesting that deleted mtDNA is transcribed. Immunocytochemistry showed that the nuclear DNA-encoded subunit IV of COX was present but that the mtDNA-encoded subunit II was markedly diminished in COX-deficient ragged-red fibers. Because the mtDNA deletion in this patient did not comprise the gene encoding COX subunit II, COX deficiency may have resulted from lack of translation of mtRNA encoding all three mtDNA-encoded subunits of COX.

  15. The Role of Color Cues in Facilitating Accurate and Rapid Location of Aided Symbols by Children with and without Down Syndrome

    ERIC Educational Resources Information Center

    Wilkinson, Krista; Carlin, Michael; Thistle, Jennifer

    2008-01-01

    Purpose: This research examined how the color distribution of symbols within a visual aided augmentative and alternative communication array influenced the speed and accuracy with which participants with and without Down syndrome located a target picture symbol. Method: Eight typically developing children below the age of 4 years, 8 typically…

  16. Clinical Associations of Biallelic and Monoallelic TNFRSF13B Variants in Italian Primary Antibody Deficiency Syndromes

    PubMed Central

    Pulvirenti, Federica; Zuntini, Roberta; Milito, Cinzia; Specchia, Fernando; Spadaro, Giuseppe; Danieli, Maria Giovanna; Pession, Andrea; Quinti, Isabella; Ferrari, Simona

    2016-01-01

    We assessed the prevalence of TNFRSF13B mutations and the clinical correlates in an Italian cohort of 189 CVID, 67 IgAD patients, and 330 healthy controls to substantiate the role of TACI genetic testing in diagnostic workup. We found that 11% of CVID and 13% of IgAD carried at least one mutated TNFRSF13B allele. Seven per cent of CVID had monoallelic-mutations and 4% had biallelic-mutations. The frequency of C104R monoallelic-mutations was not higher than that found in healthy controls. Biallelic-mutations were exclusively found in CVID. CVID patients carrying monoallelic-mutations had an increased prevalence of lymphadenopathy, granulomata, and autoimmune cytopenias. CVID carrying biallelic-mutations had a low prevalence of autoimmunity in comparison with TACI wild-type CVID. Moreover, biallelic-mutated CVID had higher frequency of switched memory B-cells and higher IgM and IgA antibodies to polysaccharide antigens than TACI wild-type and monoallelic-mutated CVID. TACI-mutated IgAD patients had only monoallelic-mutations and did not display clinical difference from IgAD wild-type patients. In conclusion, TNFRSF13B genetic screening of antibody deficiencies may allow the identification of mutational patterns. However, as with counseling for risk assessment, geneticists should be aware that the interpretation of genetic testing for TACI mutations is difficult and the potential impact on clinical management is still limited. PMID:27123465

  17. Clinical Associations of Biallelic and Monoallelic TNFRSF13B Variants in Italian Primary Antibody Deficiency Syndromes.

    PubMed

    Pulvirenti, Federica; Zuntini, Roberta; Milito, Cinzia; Specchia, Fernando; Spadaro, Giuseppe; Danieli, Maria Giovanna; Pession, Andrea; Quinti, Isabella; Ferrari, Simona

    2016-01-01

    We assessed the prevalence of TNFRSF13B mutations and the clinical correlates in an Italian cohort of 189 CVID, 67 IgAD patients, and 330 healthy controls to substantiate the role of TACI genetic testing in diagnostic workup. We found that 11% of CVID and 13% of IgAD carried at least one mutated TNFRSF13B allele. Seven per cent of CVID had monoallelic-mutations and 4% had biallelic-mutations. The frequency of C104R monoallelic-mutations was not higher than that found in healthy controls. Biallelic-mutations were exclusively found in CVID. CVID patients carrying monoallelic-mutations had an increased prevalence of lymphadenopathy, granulomata, and autoimmune cytopenias. CVID carrying biallelic-mutations had a low prevalence of autoimmunity in comparison with TACI wild-type CVID. Moreover, biallelic-mutated CVID had higher frequency of switched memory B-cells and higher IgM and IgA antibodies to polysaccharide antigens than TACI wild-type and monoallelic-mutated CVID. TACI-mutated IgAD patients had only monoallelic-mutations and did not display clinical difference from IgAD wild-type patients. In conclusion, TNFRSF13B genetic screening of antibody deficiencies may allow the identification of mutational patterns. However, as with counseling for risk assessment, geneticists should be aware that the interpretation of genetic testing for TACI mutations is difficult and the potential impact on clinical management is still limited. PMID:27123465

  18. Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p-markers

    SciTech Connect

    Martinsson, T.; Bjursell, C.; Wahlstroem, J.

    1994-09-01

    Carbohydrate-deficient glycoprotein syndrome type I is a multisystem disease with early severe nervous system involvement. The disease, which is inherited as a recessive autosomal trait, is biochemically characterized by complex defects in the terminal carbohydrate residues of a number of serum glycoproteins. This can be most readily detected in transferrin. A whole genome scan was initiated in order to try localizing the gene (CDG1) with linkage technique. We therefore analyzed 25 CDG1-pedigrees with several highly polymorphic microsatellite markers and after exclusion of about 30% of the genome, linkage was detected with markers located in chromosome region 16p. The lod score (Zmax) was above 8 (theta=0.00) for several markers in the region. In order to further sublocalize the CDG1 gene, recombination and linkage disequilibrium analyses were performed. Recombination events in some pedigrees indicated that the CDG1 gene is located in a 13 cM interval between microsatellite markers D16S406 and D16S500. Furthermore, allelic association was shown for marker D16S406, indicating that the CDG1 gene is located close to this. No heterogeneity could be detected in the European family material tested by us.

  19. Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency

    PubMed Central

    Fuchs, Sebastian; Rensing-Ehl, Anne; Pannicke, Ulrich; Lorenz, Myriam R.; Fisch, Paul; Jeelall, Yogesh; Rohr, Jan; Speckmann, Carsten; Vraetz, Thomas; Farmand, Susan; Schmitt-Graeff, Annette; Krüger, Marcus; Strahm, Brigitte; Henneke, Philipp; Enders, Anselm; Horikawa, Keisuke; Goodnow, Christopher; Schwarz, Klaus

    2015-01-01

    Omenn syndrome (OS) is a severe immunodeficiency associated with erythroderma, lymphoproliferation, elevated IgE, and hyperactive oligoclonal T cells. A restricted T-cell repertoire caused by defective thymic T-cell development and selection, lymphopenia with homeostatic proliferation, and lack of regulatory T cells are considered key factors in OS pathogenesis. We report 2 siblings presenting with cytomegalovirus (CMV) and Pneumocystis jirovecii infections and recurrent sepsis; one developed all clinical features of OS. Both carried homozygous germline mutations in CARD11 (p.Cys150*), impairing NF-κB signaling and IL-2 production. A somatic second-site mutation reverting the stop codon to a missense mutation (p.Cys150Leu) was detected in tissue-infiltrating T cells of the OS patient. Expression of p.Cys150Leu in CARD11-deficient T cells largely reconstituted NF-κB signaling. The reversion likely occurred in a prethymic T-cell precursor, leading to a chimeric T-cell repertoire. We speculate that in our patient the functional advantage of the revertant T cells in the context of persistent CMV infection, combined with lack of regulatory T cells, may have been sufficient to favor OS. This first observation of OS in a patient with a T-cell activation defect suggests that severely defective T-cell development or homeostatic proliferation in a lymphopenic environment are not required for this severe immunopathology. PMID:26289640

  20. Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency.

    PubMed

    Fuchs, Sebastian; Rensing-Ehl, Anne; Pannicke, Ulrich; Lorenz, Myriam R; Fisch, Paul; Jeelall, Yogesh; Rohr, Jan; Speckmann, Carsten; Vraetz, Thomas; Farmand, Susan; Schmitt-Graeff, Annette; Krüger, Marcus; Strahm, Brigitte; Henneke, Philipp; Enders, Anselm; Horikawa, Keisuke; Goodnow, Christopher; Schwarz, Klaus; Ehl, Stephan

    2015-10-01

    Omenn syndrome (OS) is a severe immunodeficiency associated with erythroderma, lymphoproliferation, elevated IgE, and hyperactive oligoclonal T cells. A restricted T-cell repertoire caused by defective thymic T-cell development and selection, lymphopenia with homeostatic proliferation, and lack of regulatory T cells are considered key factors in OS pathogenesis. We report 2 siblings presenting with cytomegalovirus (CMV) and Pneumocystis jirovecii infections and recurrent sepsis; one developed all clinical features of OS. Both carried homozygous germline mutations in CARD11 (p.Cys150*), impairing NF-κB signaling and IL-2 production. A somatic second-site mutation reverting the stop codon to a missense mutation (p.Cys150Leu) was detected in tissue-infiltrating T cells of the OS patient. Expression of p.Cys150Leu in CARD11-deficient T cells largely reconstituted NF-κB signaling. The reversion likely occurred in a prethymic T-cell precursor, leading to a chimeric T-cell repertoire. We speculate that in our patient the functional advantage of the revertant T cells in the context of persistent CMV infection, combined with lack of regulatory T cells, may have been sufficient to favor OS. This first observation of OS in a patient with a T-cell activation defect suggests that severely defective T-cell development or homeostatic proliferation in a lymphopenic environment are not required for this severe immunopathology. PMID:26289640

  1. Deficient Purposeful Use of Forepaws in Female Mice Modelling Rett Syndrome

    PubMed Central

    De Filippis, Bianca; Musto, Mattia; Altabella, Luisa; Romano, Emilia; Canese, Rossella; Laviola, Giovanni

    2015-01-01

    Rett syndrome (RTT) is a rare neurodevelopmental disorder, characterized by severe behavioural and physiological symptoms. Mutations in the methyl CpG binding protein 2 gene (MECP2) cause more than 95% of classic cases. Motor abnormalities represent a significant part of the spectrum of RTT symptoms. In the present study we investigated motor coordination and fine motor skill domains in MeCP2-308 female mice, a validated RTT model. This was complemented by the in vivo magnetic resonance spectroscopy (MRS) analysis of metabolic profile in behaviourally relevant brain areas. MeCP2-308 heterozygous female mice (Het, 10-12 months of age) were impaired in tasks validated for the assessment of purposeful and coordinated forepaw use (Morag test and Capellini handling task). A fine-grain analysis of spontaneous behaviour in the home-cage also revealed an abnormal handling pattern when interacting with the nesting material, reduced motivation to explore the environment, and increased time devoted to feeding in Het mice. The brain MRS evaluation highlighted decreased levels of bioenergetic metabolites in the striatal area in Het mice compared to controls. Present results confirm behavioural and brain alterations previously reported in MeCP2-308 males and identify novel endpoints on which the efficacy of innovative therapeutic strategies for RTT may be tested. PMID:26185689

  2. Neuroleptic malignant syndrome in an adolescent with CYP2D6 deficiency.

    PubMed

    Butwicka, Agnieszka; Krystyna, Szymańska; Retka, Włodzimierz; Wolańczyk, Tomasz

    2014-12-01

    We describe a patient with dystonia and psychotic symptoms treated with standard doses of antipsychotics, who developed neuroleptic malignant syndrome (NMS). A 16-year-old male with a history of misuse of dextromethorphan and pseudoephedrine for recreational purpose presented with dystonia and a psychotic episode. Following continuous treatment with olanzapine (10 mg/day), repeated injections of levomepromazine (37.5 mg/day), and a single injection of haloperidol (2.5 mg), the patient developed NMS. Muscular rigidity, fever (up to 41 °C), hypotension (100/70 mmHg), tachycardia (120 beats per minute), tachypnea (26 breaths per minute), elevated leukocyte count (up to 16.6 × 10(3)/μL), and elevated serum creatinine phosphokinase (CPK) (up to 15,255 U/L) were observed. A diagnosis of NMS was made according to the DSM-IV TR criteria. Genotyping revealed that he was homozygous for a non-functional CYP2D6*4 allele. The case highlights the importance of therapeutic drug monitoring in identification and differentiation of drug-induced effects in psychiatric disorder to prevent NMS and its complications. In addition, genotyping of CYP2D6 might be considered in patients with symptoms suggestive of drug toxicity who are treated with neuroleptics metabolized via the CYP2D6 pathway, as carriage of one or more non-functional alleles may increase the risk for adverse reactions, such as NMS. PMID:24253372

  3. Lethal toxicity after administration of azacytidine: implication of the cytidine deaminase-deficiency syndrome.

    PubMed

    Fanciullino, Raphaelle; Mercier, Cedric; Serdjebi, Cindy; Berda, Yaël; Fina, Frederic; Ouafik, L'Houcine; Lacarelle, Bruno; Ciccolini, Joseph; Costello, Regis

    2015-06-01

    Azacytidine, an antimetabolite with an original epigenetic mechanism of action, increases survival in patients diagnosed with high-risk myelodysplasic syndromes or acute myeloid leukemia with less than 30% medullar blasts. Azacytidine is a pyrimidine derivative that undergoes metabolic detoxification driven by cytidine deaminase (CDA), a liver enzyme whose gene is prone to genetic polymorphism, leading to erratic activity among patients. Clinical reports have shown that patients with the poor metabolizer (PM) phenotype are likely to experience early severe or lethal toxicities when treated with nucleosidic analogs such as gemcitabine or cytarabine. No clinical data have been available thus far on the relationships between CDA PM status and toxicities in azacytidine-treated patients. Here, we measured CDA activity in a case of severe toxicities with fatal outcome in a patient undergoing standard azacytidine treatment. Results showed that the patient was PM (i.e. residual activity reduced by 63%), thus suggesting that an impaired detoxification step could have given rise to the lethal toxicities observed. This case report calls for further prospective studies investigating the exact role that CDA status plays in the clinical outcome of patients treated with azacytidine. PMID:25850965

  4. Thrombotic microangiopathy syndrome as an AIDS-defining illness: the experience of J. Stroger Hospital of Cook County.

    PubMed

    Tamkus, Deimante; Jajeh, Ahmed; Osafo, David; Hadad, Lotfi; Bhanot, Bhavana; Yogore, Mariano G

    2006-02-01

    Thrombotic thrombocytopenic purpura and hemolytic uremic syndrome are severe life-threatening disseminated thrombotic microangiopathies (TMA). Although many cases are idiopathic, TMA can occur in association with pregnancy, malignancy, autoimmune diseases, and HIV infection. We retrospectively analyzed the cases of 17 patients with TMA coexistent with HIV infection admitted to our institution. Median T-cell count at presentation was 28 cells/mm3 Patients presented with severe thrombocytopenia (median platelet count 19 x 10(9)/L) and high lactate dehydrogenase levels (median 1,057 U/L). The majority of patients (82%) presented with renal dysfunction. Forty-one percent of patients had fever and 29% had neurological signs at presentation, which were associated with inferior outcome. Despite plasma exchange, inpatient mortality for the first TMA episode was 47%. Some patients relapsed following an initial TMA episode. However, there were responders with remissions lasting 5 years. We conclude that TMA, coexistent with an HIV-associated low CD4 count, is a treatable condition. Considering TMA as an AIDS-defining illness may help clinicians recognize this syndrome earlier, leading to prompter treatment and improved survival rates. PMID:16728923

  5. [Genetic fever syndromes. Hereditary recurrent (periodic) fever syndromes].

    PubMed

    Neudorf, U; Lainka, E; Kallinich, T; Holzinger, D; Roth, J; Föll, D; Niehues, T

    2013-05-01

    Genetic fever syndromes or hereditary recurrent fever syndromes (HRF) are considered to be part of the autoinflammatory diseases (AID) which result from errors in the innate immune system. Patients typically have self-limiting episodes of fever and high levels of inflammation markers. The mode of inheritance is autosomal recessive or autosomal dominant. The diseases of the HRF include familial Mediterranean fever, tumor necrosis factor receptor 1-associated periodic syndrome, hyper-IgD syndrome and cryopyrin-associated periodic fever syndromes. The disease known as deficiency of interleukin 1 (IL1) receptor antagonist does not fully belong to this group because fever is not a typical symptom. The therapy depends on the type and severity of the disease. Effective prophylaxis is possible for FMF. Biologicals, especially IL1 blocking agents are highly effective in very severe fever syndromes. In order to collect more information on AID, to establish a biobank and coordinate research in this field the AID-Net project was founded. Currently 606 patients with AID are registered of whom 381 have HRF. PMID:23552978

  6. Strategies for Implementing AIDS/HIV Policy Guidelines in Developmental and Mental Health Services: A Background and Checklist for Advocates. AIDS Technical Report, No. 3.

    ERIC Educational Resources Information Center

    Harvey, David C.

    This technical report is part of a series on AIDS/HIV (Acquired Immune Deficiency Syndrome/Human Immunodeficiency Virus) and is intended to help link various legal advocacy organizations providing services to persons with mental illness or developmental disabilities. Through a series of case examples, questions, background information, and…

  7. Deficient tonic GABAergic conductance and synaptic balance in the fragile X syndrome amygdala.

    PubMed

    Martin, Brandon S; Corbin, Joshua G; Huntsman, Molly M

    2014-08-15

    Fragile X syndrome (FXS) is the leading cause of inherited intellectual disability. Comorbidities of FXS such as autism are increasingly linked to imbalances in excitation and inhibition (E/I) as well as dysfunction in GABAergic transmission in a number of brain regions including the amygdala. However, the link between E/I imbalance and GABAergic transmission deficits in the FXS amygdala is poorly understood. Here we reveal that normal tonic GABAA receptor-mediated neurotransmission in principal neurons (PNs) of the basolateral amygdala (BLA) is comprised of both δ- and α5-subunit-containing GABAA receptors. Furthermore, tonic GABAergic capacity is reduced in these neurons in the Fmr1 knockout (KO) mouse model of FXS (1.5-fold total, 3-fold δ-subunit, and 2-fold α5-subunit mediated) as indicated by application of gabazine (50 μM), 4,5,6,7-tetrahydroisoxazolo[5,4-c]pyridin-3-ol (THIP, 1 μM), and α5ia (1.5 μM) in whole cell patch-clamp recordings. Moreover, α5-containing tonic GABAA receptors appear to preferentially modulate nonsomatic compartments of BLA PNs. Examination of evoked feedforward synaptic transmission in these cells surprisingly revealed no differences in overall synaptic conductance or E/I balance between wild-type (WT) and Fmr1 KO mice. Instead, we observed altered feedforward kinetics in Fmr1 KO PNs that supports a subtle yet significant decrease in E/I balance at the peak of excitatory conductance. Blockade of α5-subunit-containing GABAA receptors replicated this condition in WT PNs. Therefore, our data suggest that tonic GABAA receptor-mediated neurotransmission can modulate synaptic E/I balance and timing established by feedforward inhibition and thus may represent a therapeutic target to enhance amygdala function in FXS. PMID:24848467

  8. Endurance training ameliorates complex 3 deficiency in a mouse model of Barth syndrome.

    PubMed

    Soustek, Meghan S; Baligand, Celine; Falk, Darin J; Walter, Glenn A; Lewin, Alfred S; Byrne, Barry J

    2015-09-01

    Barth syndrome (BTHS) is an X-linked metabolic disorder that causes cardiomyopathy in infancy and is linked to mutations within the Tafazzin (TAZ) gene. The first mouse model, a TAZ knockdown model (TAZKD), has been generated to further understand the bioenergetics leading to cardiomyopathy. However, the TAZKD model does not show early signs of cardiomyopathy, and cardiac pathophysiology has not been documented until 7-8 months of age. Here we sought to determine the impact of endurance training on the cardiac and skeletal muscle phenotype in young TAZKD mice. TAZKD exercise trained (TAZKD-ET) and control exercise trained (CON-ET) mice underwent a 35-day swimming protocol. Non-trained aged matched TAZKD and CON mice were used as controls. At the end of the protocol, cardiac MRI was used to assess cardiac parameters. Cardiac MRI showed that training resulted in cardiac hypertrophy within both groups and did not result in a decline of ejection fraction. TAZKD mice exhibited a decrease in respiratory complex I, III, and IV enzymatic activity in cardiac tissue compared to control mice; however, training led to an increase in complex III activity in TAZKD-ET mice resulting in similar levels to those of CON-ET mice. (31)P magnetic resonance spectroscopy of the gastrocnemius showed a significantly lowered pH in TAZKD-ET mice post electrical-stimulation compared to CON-ET mice. Endurance training does not accelerate cardiac dysfunction in young TAZKD mice, but results in beneficial physiological effects. Furthermore, our results suggest that a significant drop in intracellular pH levels may contribute to oxidative phosphorylation defects during exercise. PMID:25860817

  9. Gallium scanning in lymphoid interstitial pneumonitis of children with AIDS

    SciTech Connect

    Schiff, R.G.; Kabat, L.; Kamani, N.

    1987-12-01

    Lymphoid interstitial pneumonitis (LIP) is a frequent pulmonary complication in the child with the acquired immune deficiency syndrome (AIDS) and human immunodeficiency virus (HIV) infection. We report the gallium scan findings in two children with AIDS and LIP. Gallium scintigraphy in both children demonstrated increased radionuclide concentration throughout the lungs, a pattern indistinguishable scintigraphically from that of Pneumocystis carinii pneumonia (PCP). This should alert nuclear medicine practitioners and referring physicians to another cause of diffusely increased gallium uptake in the lungs of patients with AIDS.

  10. HIV/AIDS

    MedlinePlus

    ... at risk for serious infections and certain cancers. AIDS stands for acquired immunodeficiency syndrome. It is the final stage of infection with HIV. Not everyone with HIV develops AIDS. HIV most often spreads through unprotected sex with ...

  11. Generational Association Studies of Dopaminergic Genes in Reward Deficiency Syndrome (RDS) Subjects: Selecting Appropriate Phenotypes for Reward Dependence Behaviors

    PubMed Central

    Blum, Kenneth; Chen, Amanda L. C.; Oscar-Berman, Marlene; Chen, Thomas J. H.; Lubar, Joel; White, Nancy; Lubar, Judith; Bowirrat, Abdalla; Braverman, Eric; Schoolfield, John; Waite, Roger L.; Downs, Bernard W.; Madigan, Margaret; Comings, David E.; Davis, Caroline; Kerner, Mallory M.; Knopf, Jennifer; Palomo, Tomas; Giordano, John J.; Morse, Siobhan A.; Fornari, Frank; Barh, Debmalya; Femino, John; Bailey, John A.

    2011-01-01

    Abnormal behaviors involving dopaminergic gene polymorphisms often reflect an insufficiency of usual feelings of satisfaction, or Reward Deficiency Syndrome (RDS). RDS results from a dysfunction in the “brain reward cascade,” a complex interaction among neurotransmitters (primarily dopaminergic and opioidergic). Individuals with a family history of alcoholism or other addictions may be born with a deficiency in the ability to produce or use these neurotransmitters. Exposure to prolonged periods of stress and alcohol or other substances also can lead to a corruption of the brain reward cascade function. We evaluated the potential association of four variants of dopaminergic candidate genes in RDS (dopamine D1 receptor gene [DRD1]; dopamine D2 receptor gene [DRD2]; dopamine transporter gene [DAT1]; dopamine beta-hydroxylase gene [DBH]). Methodology: We genotyped an experimental group of 55 subjects derived from up to five generations of two independent multiple-affected families compared to rigorously screened control subjects (e.g., N = 30 super controls for DRD2 gene polymorphisms). Data related to RDS behaviors were collected on these subjects plus 13 deceased family members. Results: Among the genotyped family members, the DRD2 Taq1 and the DAT1 10/10 alleles were significantly (at least p < 0.015) more often found in the RDS families vs. controls. The TaqA1 allele occurred in 100% of Family A individuals (N = 32) and 47.8% of Family B subjects (11 of 23). No significant differences were found between the experimental and control positive rates for the other variants. Conclusions: Although our sample size was limited, and linkage analysis is necessary, the results support the putative role of dopaminergic polymorphisms in RDS behaviors. This study shows the importance of a nonspecific RDS phenotype and informs an understanding of how evaluating single subset behaviors of RDS may lead to spurious results. Utilization of a nonspecific “reward” phenotype may

  12. Sjögren-Larsson syndrome. Deficient activity of the fatty aldehyde dehydrogenase component of fatty alcohol:NAD+ oxidoreductase in cultured fibroblasts.

    PubMed Central

    Rizzo, W B; Craft, D A

    1991-01-01

    Sjögren-Larsson syndrome (SLS) is an inherited disorder associated with impaired fatty alcohol oxidation due to deficient activity of fatty alcohol:NAD+ oxidoreductase (FAO). FAO is a complex enzyme which consists of two separate proteins that sequentially catalyze the oxidation of fatty alcohol to fatty aldehyde and fatty acid. To determine which enzymatic component of FAO was deficient in SLS, we assayed fatty aldehyde dehydrogenase (FALDH) and fatty alcohol dehydrogenase in cultured fibroblasts from seven unrelated SLS patients. All SLS cells were selectively deficient in the FALDH component of FAO, and had normal activity of fatty alcohol dehydrogenase. The extent of FALDH deficiency in SLS cells depended on the aliphatic aldehyde used as substrate, ranging from 62% of mean normal activity using propionaldehyde as substrate to 8% of mean normal activity with octadecanal. FALDH activity in obligate SLS heterozygotes was partially decreased to 49 +/- 7% of mean normal activity using octadecanal as substrate. Differential centrifugation studies in fibroblasts indicated that this FALDH enzyme was largely particulate; soluble FALDH activity was normal in SLS cells. Intact SLS fibroblasts oxidized octadecanol to fatty acid at less than 10% of the normal rate, but oxidized free octadecanal normally, suggesting that the FALDH affected in SLS is chiefly involved in the oxidation of fatty alcohol to fatty acid. These results show that the primary enzymatic defect in SLS is the FALDH component of the FAO complex, which leads to deficient oxidation of fatty aldehyde derived from fatty alcohol. PMID:1939650

  13. Cushing's Syndrome

    MedlinePlus

    ... Cushing's syndrome, also called hypercortisolism , is a rare endocrine disorder caused by chronic exposure of the body's tissues ... removing the tumor while minimizing the chance of endocrine deficiency or long-term ... for Cushing's Syndrome Clinical Trials ...

  14. AIDS: medicolegal considerations for Canadian hospitals.

    PubMed Central

    Johnson, B J; Soskolne, C L

    1986-01-01

    Given the increasing endemicity of human immunodeficiency virus (HIV), the agent implicated in the causation of acquired immune deficiency syndrome (AIDS), in numerous sizeable subgroups of society, hospitals can expect increasing exposure to the legal implications presented by patients with AIDS. This paper reviews the duty of care owed by hospitals, both directly, through contractual obligations, and indirectly, through the acts of their employees and private contractors, to patients with AIDS, other patients and the public. Owing to the absence of case law directly related to AIDS or to HIV antibody reactivity, inferences were drawn from precedents set with other infectious diseases. Recommendations are made in the areas of confidentiality, informed consent, standards of care and vicarious liability. PMID:3464340

  15. ESTABLISHING DIAGNOSTIC CRITERIA FOR SCID, LEAKY SCID, AND OMENN SYNDROME: THE PRIMARY IMMUNE DEFICIENCY TREATMENT CONSORTIUM EXPERIENCE

    PubMed Central

    Shearer, William T.; Dunn, Elizabeth; Notarangelo, Luigi D.; Dvorak, Christopher C.; Puck, Jennifer M.; Logan, Brent R.; Griffith, Linda M.; Kohn, Donald B.; O’Reilly, Richard J.; Fleisher, Thomas A.; Pai, Sung-Yun; Martinez, Caridad A.; Buckley, Rebecca H.; Cowan, Morton J.

    2014-01-01

    Background The approach to the diagnosis of Severe Combined Immunodeficiency Disease (SCID) and related disorders varies among institutions and countries. Objectives The Primary Immune Deficiency Treatment Consortium (PIDTC) attempted to develop a uniform set of criteria for diagnosing SCID and related disorders, and has evaluated the results as part of a retrospective study of SCID in North America. Methods Clinical records from 2000 through 2009 at 27 centers in North America were collected on 332 children treated with hematopoietic cell transplant (HCT), enzyme replacement therapy (ERT) or gene therapy (GT) for SCID and related disorders. Eligibility for inclusion in the study and classification into disease groups were established by set criteria and applied by an expert review group. Result Two hundred eighty-five (86%) of the patients were determined to be eligible and 47 (14%) were not eligible. Of the 285 eligible patients, 84% were classified as typical SCID; 13% were classified as leaky SCID, Omenn syndrome, or reticular dysgenesis; and 3% had a history of enzyme replacement or gene therapy. Detection of a genotype predicting a SCID phenotype was accepted for eligibility. Reasons for non-eligibility were failure to demonstrate either impaired lymphocyte proliferation or maternal T cell engraftment. Overall (n = 332) rates of testing were: proliferation to PHA 77%, maternal engraftment 35%, and genotype 79% (mutation identified in 62%). Conclusion Lack of complete laboratory evaluation of patients prior to HCT presents a significant barrier to definitive diagnosis of SCID and related disorders and prevented inclusion of individuals in our observational HCT study. This lesson is critical for patient care as well as the design of future, prospective treatment studies for such children, since a well-defined and consistent study population is important for precision in outcomes analysis. PMID:24290292

  16. “Liking” and “Wanting” Linked to Reward Deficiency Syndrome (RDS): Hypothesizing Differential Responsivity in Brain Reward Circuitry

    PubMed Central

    Blum, Kenneth; Gardner, Eliot; Oscar-Berman, Marlene; Gold, Mark

    2013-01-01

    In an attempt to resolve controversy regarding the causal contributions of mesolimbic dopamine (DA) systems to reward, we evaluate the three main competing explanatory categories: “liking,” “learning,” and “wanting” [1]. That is, DA may mediate (a) the hedonic impact of reward (liking), (b) learned predictions about rewarding effects (learning), or (c) the pursuit of rewards by attributing incentive salience to reward-related stimuli (wanting). We evaluate these hypotheses, especially as they relate to the Reward Deficiency Syndrome (RDS), and we find that the incentive salience or “wanting” hypothesis of DA function is supported by a majority of the evidence. Neuroimaging studies have shown that drugs of abuse, palatable foods, and anticipated behaviors such as sex and gaming affect brain regions involving reward circuitry, and may not be unidirectional. Drugs of abuse enhance DA signaling and sensitize mesolimbic mechanisms that evolved to attribute incentive salience to rewards. Addictive drugs have in common that they are voluntarily self-administered, they enhance (directly or indirectly) dopaminergic synaptic function in the nucleus accumbens, and they stimulate the functioning of brain reward circuitry (producing the “high” that drug users seek). Although originally believed simply to encode the set point of hedonic tone, these circuits now are believed to be functionally more complex, also encoding attention, reward expectancy, disconfirmation of reward expectancy, and incentive motivation. Elevated stress levels, together with polymorphisms of dopaminergic genes and other neurotransmitter genetic variants, may have a cumulative effect on vulnerability to addiction. The RDS model of etiology holds very well for a variety of chemical and behavioral addictions. PMID:22236117

  17. The pleiotropic effects of decanoic acid treatment on mitochondrial function in fibroblasts from patients with complex I deficient Leigh syndrome.

    PubMed

    Kanabus, Marta; Fassone, Elisa; Hughes, Sean David; Bilooei, Sara Farahi; Rutherford, Tricia; Donnell, Maura O'; Heales, Simon J R; Rahman, Shamima

    2016-05-01

    There is growing interest in the use of the ketogenic diet (KD) to treat inherited metabolic diseases including mitochondrial disorders. However, neither the mechanism whereby the diet may be working, nor if it could benefit all patients with mitochondrial disease, is known. This study focusses on decanoic acid (C10), a component of the medium chain triglyceride KD, and a ligand for the nuclear receptor PPAR-γ known to be involved in mitochondrial biogenesis. The effects of C10 were investigated in primary fibroblasts from a cohort of patients with Leigh syndrome (LS) caused by nuclear-encoded defects of respiratory chain complex I, using mitochondrial respiratory chain enzyme assays, gene expression microarray, qPCR and flow cytometry. Treatment with C10 increased citrate synthase activity, a marker of cellular mitochondrial content, in 50 % of fibroblasts obtained from individuals diagnosed with LS in a PPAR-γ-mediated manner. Gene expression analysis and qPCR studies suggested that treating cells with C10 supports fatty acid metabolism, through increasing ACADVL and CPT1 expression, whilst downregulating genes involved in glucose metabolism (PDK3, PDK4). PCK2, involved in blocking glucose metabolism, was upregulated, as was CAT, encoding catalase. Moreover, treatment with C10 also decreased oxidative stress in complex I deficient (rotenone treated) cells. However, since not all cells from subjects with LS appeared to respond to C10, prior cellular testing in vitro could be employed as a means for selecting individuals for subsequent clinical studies involving C10 preparations. PMID:27080638

  18. Development of thiamine deficiencies and early mortality syndrome in lake trout by feeding experimental and feral fish diets containing thiaminase

    USGS Publications Warehouse

    Honeyfield, D.C.; Hinterkopf, J.P.; Fitzsimons, J.D.; Tillitt, D.E.; Zajicek, J.L.; Brown, S.B.

    2005-01-01

    We conducted a laboratory investigation on the consequences of feeding predatory saimonids either experimental diets low in thiamine or diets containing alewife Alosa pseudoharengus. In experiment 1, adult lake trout Salvelinus namaycush were fed experimental diets containing bacterial thiaminase. In experiment 2, adult lake trout were fed natural prey species, alewives, and bloaters Coregonus hoyi. The diets consisted of four combinations of alewives and bloaters from Lake Michigan (100% alewives, 65% alewives-35% bloaters, 35% alewives-65% bloaters, and 100% bloaters), alewives from Cayuga Lake, a casein bacterial thiaminase, and a commercial trout diet. We assessed the effects of each diet on egg thiamine concentration and incidence of an embryonic early mortality syndrome (EMS). In experiment 1, incidence of EMS ranged from 0% to 100%. Significant relationships were found between the incidence of EMS and thiamine. In experiment 2, adult lake trout fed 100% alewives from either Lake Michigan or Cayuga Lake or fish fed the casein bacterial thiaminase diet produced eggs with low thiamine and swim-up fry with EMS. At either 35% or 65% alewives in the diet, egg thiamine was significantly lowered. The number of females that produced offspring that died from EMS were low but demonstrated the negative potential if feral lake trout foraged on either 35% or 65% alewives. Depleted egg thiamine and the onset of EMS required diets containing thiaminase for a minimum of 2 years in lake trout initially fully thiamine replete. We conclude that EMS can be caused by extensive feeding on 100% alewives and dietary levels of 35% or greater may prove detrimental to sustainable reproduction of salmonids in the Great Lakes. The data are consistent with that observed in feral lake trout, and it is concluded that EMS is the result of a thiamine deficiency. ?? Copyright by the American Fisheries Society 2005.

  19. Middle East respiratory syndrome coronavirus: transmission, virology and therapeutic targeting to aid in outbreak control

    PubMed Central

    Durai, Prasannavenkatesh; Batool, Maria; Shah, Masaud; Choi, Sangdun

    2015-01-01

    Middle East respiratory syndrome coronavirus (MERS-CoV) causes high fever, cough, acute respiratory tract infection and multiorgan dysfunction that may eventually lead to the death of the infected individuals. MERS-CoV is thought to be transmitted to humans through dromedary camels. The occurrence of the virus was first reported in the Middle East and it subsequently spread to several parts of the world. Since 2012, about 1368 infections, including ~487 deaths, have been reported worldwide. Notably, the recent human-to-human ‘superspreading' of MERS-CoV in hospitals in South Korea has raised a major global health concern. The fatality rate in MERS-CoV infection is four times higher compared with that of the closely related severe acute respiratory syndrome coronavirus infection. Currently, no drug has been clinically approved to control MERS-CoV infection. In this study, we highlight the potential drug targets that can be used to develop anti-MERS-CoV therapeutics. PMID:26315600

  20. Sexually transmitted disease (STD) and acquired immunodeficiency syndrome (AIDS) in South East Asia.

    PubMed

    Ismail, R

    1999-01-01

    This article reports on the prevalence of AIDS and sexually transmitted diseases (STDs) in Southeast Asia. The spread of HIV infection in this region has been predicted to be worse than that of Africa. The high-prevalence countries are Thailand, Cambodia, and Myanmar, where prevalence rates in the population at risk (15-49 year olds) are up to 2%; while low prevalence countries with rates of 0.1% include the Philippines, Indonesia, Laos, Brunei, and Singapore. Heterosexual transmission in Southeast Asia is the main mode of spread of HIV. Another route is through migration, rural-to-urban or international migration of people seeking jobs; with concurrent loneliness and anonymity, they become vulnerable to STDs and HIV infection. Intravenous drug use poses an increasing risk of transmission. The unavailability of data in some countries makes it difficult to evaluate the extent of the epidemic or if there's an impending epidemic. There are a number of caveats to the data compilation from various countries. These include the following: under-reporting of cases; underdiagnosis; missed diagnosis; and differences in the time of data collection. It is clear that poverty, illiteracy, and poor access to educational information in most countries in this region facilitate the rapid spread of HIV. These coupled with lack of primary health care services, and in most instances, enormously high cost of drugs make the pain and suffering due to the HIV/AIDS epidemic a human disaster far worse than the ravages of war. PMID:10330595

  1. Detection of AIDS Virus in Macrophages in Brain Tissue from AIDS Patients with Encephalopathy

    NASA Astrophysics Data System (ADS)

    Koenig, Scott; Gendelman, Howard E.; Orenstein, Jan M.; Canto, Mauro C.; Pezeshkpour, Gholam H.; Yungbluth, Margaret; Janotta, Frank; Aksamit, Allen; Martin, Malcolm A.; Fauci, Anthony S.

    1986-09-01

    One of the common neurological complications in patients with the acquired immune deficiency syndrome (AIDS) is a subacute encephalopathy with progressive dementia. By using the techniques of cocultivation for virus isolation, in situ hybridization, immunocytochemistry, and transmission electron microscopy, the identity of an important cell type that supports replication of the AIDS retrovirus in brain tissue was determined in two affected individuals. These cells were mononucleated and multinucleated macrophages that actively synthesized viral RNA and produced progeny virions in the brains of the patients. Infected brain macrophages may serve as a reservoir for virus and as a vehicle for viral dissemination in the infected host.

  2. The Impact of Residency Training on Physicians' AIDS-Related Treatment Practices: A Longitudinal Panel Study.

    ERIC Educational Resources Information Center

    Yedidia, Michael J.; Berry, Carolyn A.

    1999-01-01

    Study of 394 physicians graduating in 1989 from six New York medical schools found that certain residency-training factors had sustained effects on physician behavior in caring for AIDS (acquired immune deficiency syndrome) patients, but not on the number of patients treated. Determinants of treatment practice included residency environment,…

  3. HIV Education for Persons with Mental Disabilities. AIDS Technical Report, No. 1.

    ERIC Educational Resources Information Center

    Harvey, David C.; Trivelli, Lucy U.

    This technical report is part of a series on AIDS/HIV (Acquired Immune Deficiency Syndrome/Human Immunodeficiency Virus) and is intended to help link various legal advocacy organizations providing services to persons with mental illness or developmental disabilities. Such persons, especially adolescents, are at risk for exposure to HIV because…

  4. HIV Liability & Disability Services Providers: An Introduction to Tort Principles. AIDS Technical Report, No. 2.

    ERIC Educational Resources Information Center

    Harvey, David C.; Decker, Curtis L.

    This technical report is part of a series on AIDS/HIV (Acquired Immune Deficiency Syndrome/Human Immunodeficiency Virus) and is intended to help link various legal advocacy organizations providing services to persons with mental illness or developmental disabilities. This report focuses on liability issues from worker and client exposure to HIV.…

  5. AIDS Preventive Education and Life Skills Training Programme for Secondary Schools: Development and Evaluation.

    ERIC Educational Resources Information Center

    Meyer-Weitz, A.; Steyn, M.

    This publication reports on a pilot program on Acquired Immune Deficiency Syndrome (AIDS) and life skills training implemented in 12 schools in Pretoria, Laudium, Cape Town, and Soweto (South Africa). Data were collected through pre- and post-questionnaires and focus group interviews. The purpose of the program was to provide adolescents with…

  6. Software for Teaching about AIDS & Sex: A Critical Review of Products. A MicroSIFT Report.

    ERIC Educational Resources Information Center

    Weaver, Dave

    This document contains critical reviews of 10 microcomputer software packages and two interactive videodisc products designed for use in teaching about Acquired Immune Deficiency Syndrome (AIDS) and sex at the secondary school level and above. Each package was reviewed by one or two secondary school health teachers and by a staff member from the…

  7. An Africentric Model for AIDS Education, Prevention, and Psychological Services within the African American Community.

    ERIC Educational Resources Information Center

    Foster, Pamela M.; And Others

    1993-01-01

    Describes an Africentric model for training psychologists who deliver Acquired Immune Deficiency Syndrome (AIDS) education, prevention, and services within the African-American community. Principles of the NTU philosophy (a Bantu concept) and Nguzo Saba were used in training 75 African-American psychologists to deliver prevention services. (SLD)

  8. AIDS and HIV. Policy Guidelines for Boards. Campus Life Policy Series.

    ERIC Educational Resources Information Center

    Keeling, Richard P.

    1992-01-01

    The report is designed to inform members of college and university and administration governing boards about facts and issues surrounding acquired immune deficiency syndrome (AIDS) and the human immunodeficiency virus (HIV) so that they may develop education and prevention programs for their institutions and ensure protection from accidental…

  9. A Compliance Review of HIV/AIDS Instruction in New York City Public Schools.

    ERIC Educational Resources Information Center

    New York State Education Dept., Albany.

    A team from the New York State Education Department examined the regulatory compliance of the human immunodeficiency virus acquired immune deficiency syndrome (HIV/AIDS) instructional program of the New York City Public Schools and assessed the policies and procedures of the New York City Central Board of Education and community school districts…

  10. Why AIDS? The Mystery of How HIV Attacks the Immune System.

    ERIC Educational Resources Information Center

    Christensen, Damaris

    1999-01-01

    Reviews differing theories surrounding the mystery of how human immunodeficiency virus (HIV) attacks the immune system. Claims that understanding how HIV triggers immune-cell depletion may enable researchers to block its effects. New knowledge could reveal strategies for acquired immune deficiency syndrome (AIDS) therapies that go beyond the drugs…

  11. What Deaf and Hard-of-Hearing Adolescents Know and Think about AIDS.

    ERIC Educational Resources Information Center

    Luckner, John L.; Gonzales, B. Robert

    1993-01-01

    A survey of 204 secondary students with deafness or hearing impairment suggested that adolescents had a general idea about what human immunodeficiency virus (HIV) and acquired immune deficiency syndrome (AIDS) are and the potential impact of the disease. However, they demonstrated gaps in knowledge of how the disease is transmitted and prevented…

  12. AIDS/HIV-Related Knowledge, Attitudes, and Risk Behavior. Minnesota Student Survey Report, 1989.

    ERIC Educational Resources Information Center

    Minnesota State Dept. of Education, St. Paul.

    The Minnesota Student Survey, including questions on Acquired Immune Deficiency Syndrome (AIDS) virus transmission and sexual activity, was completed by approximately 88,000 6th-, 9th-, and 12th-graders during the 1988-89 school year. Sexual activity questions were not asked of sixth graders. Over 90% of high school students knew about sharing…

  13. Sex, AIDS, and the Use of Condoms: A Survey of Compliance in College Students.

    ERIC Educational Resources Information Center

    Oswalt, Robert; Matsen, Krista

    The potential for an increase in the transmission of Acquired Immune Deficiency Syndrome (AIDS) exists because the practice of sexual intercourse among unmarried individuals has increased in all age groups. Nonetheless, an earlier study in 1984 had found that the sexual activity and minimal condom use of college students had not changed…

  14. Growing Special and Free To Say No to HIV. HIV/AIDS Preventative Education.

    ERIC Educational Resources Information Center

    Iowa State Dept. of Education, Des Moines.

    This curriculum guide is written to provide special education teachers with a model for teaching students about the prevention of Acquired Immune Deficiency Syndrome (AIDS). It is noted that special education students may be at risk for contracting the virus because they are often vulnerable to high-risk behaviors in an effort to belong to a peer…

  15. The Save-Your-Life Glossary of Alcohol, AIDS, Drug, & Tobacco Terms.

    ERIC Educational Resources Information Center

    Adcock, Deborah

    This document presents the Save-Your-Life Glossary, which consists of four parts: (1) the glossary itself, which defines alcohol, Acquired Immune Deficiency Syndrome (AIDS), drug, and tobacco-related terms; (2) the alerts sections, which focus on popular drugs or issues that concern young people; (3) the focus sections, which categorize and…

  16. The School and HIV Education after the First Decade of AIDS.

    ERIC Educational Resources Information Center

    Robenstine, Clark

    This essay contends that the school as a social institution must be challenged to initiate or strengthen instruction on human immunodeficiency virus/acquired immune deficiency syndrome (HIV/AIDS), as school instruction is potentially one of the most effective and efficient means for achieving a reduction in the rate of future HIV infection. The…

  17. If Your Child Had AIDS...: Responses of Parents with Homosexual Children.

    ERIC Educational Resources Information Center

    Cleveland, Peggy H.; And Others

    1988-01-01

    Assessed the attitudes of parents of homosexual children, primarily members of support groups for parents of lesbians/gays, were they to discover their child(ren) had Acquired Immune Deficiency Syndrome (AIDS). Responses indicated devastation at the thought, with persistence of a bond between parent and child, though parents felt ambivalent…

  18. Guidelines for Counselling about HIV Infection and Disease. WHO AIDS Series 8.

    ERIC Educational Resources Information Center

    World Health Organization, Geneva (Switzerland).

    The present guidelines have been prepared to provide counselors, health care workers, and others with a model for use in counseling people affected directly or indirectly by Human Immunodeficiency Virus (HIV) infection and Acquired Immune Deficiency Syndrome (AIDS). The guidelines describe the nature, role, and principles of counseling, the…

  19. Assessing Riverside Community College Nursing Student Attitudes toward Exposure to AIDS/HIV-Positive Patients.

    ERIC Educational Resources Information Center

    Kross, Carolyn Sue

    In fall 1990, a study was conducted to assess the attitudes of nursing students who were attending Riverside Community College (RCC), in California, toward exposure to Acquired Immune Deficiency Syndrome/Human Immunodeficiency Virus (AIDS/HIV) positive patients in a hospital setting. All students enrolled in RCC's associate degree nursing program…

  20. Act Smart. HIV/AIDS Education Curriculum for Three Age Groups.

    ERIC Educational Resources Information Center

    American National Red Cross, Washington, DC.

    This Human Immunodeficiency Virus/Acquired Immune Deficiency Syndrome (HIV/AIDS) education curriculum was developed for boys and girls, ages 6 to 17 years. It is a supplement to a similar program, "SMART Moves," aimed at prevention of drug abuse and premature sexual activity. The Act SMART prevention team should consist of a staff facilitator…

  1. Scope and Limits of Medical Discourse Concerning AIDS Prevention--Rationale and Preliminary Findings.

    ERIC Educational Resources Information Center

    Singy, Pascal; Guex, Patrice

    1997-01-01

    Reports on a preliminary stage of a project funded by the Federal Office of Public Health in Switzerland to gain insights into physician-patient communication regarding Acquired Immune Deficiency Syndrome (AIDS) and apply findings to their teaching programs. Particular focus is on aspects of communication relating to primary prevention of HIV and…

  2. Children with HIV/AIDS: A Sourcebook for Caring. A Guide for Establishing Programs for Children.

    ERIC Educational Resources Information Center

    Allbritten, Dorothy J.

    This manual is intended for administrators and professional caregivers who wish to provide comprehensive health care to children with Human Immunodeficiency Virus (HIV) infection, the cause of Acquired Immune Deficiency Syndrome (AIDS). Chapter 1, an overview, examines the societal and economic issues that affect care and treatment of children…

  3. Assessment of Discharge Planning Referral to Nursing Homes for People with AIDS and HIV Infection.

    ERIC Educational Resources Information Center

    Linsk, Nathan L.; Marder, Reggi E.

    This study was conducted to identify efforts by hospital discharge planners to refer clients with human immunodeficiency virus (HIV) or Acquired Immune Deficiency Syndrome (AIDS) to nursing homes; to determine the responses of the facilities contacted; and to identify gaps in services, discharge planner practices, and relationships between…

  4. New Hampshire Educators' Handbook: A Guide for Developing HIV/AIDS Curriculum and Policy.

    ERIC Educational Resources Information Center

    New Hampshire State Dept. of Education, Concord.

    This handbook was developed to facilitate the task school districts face in developing and implementing effective Human Immunodeficiency Virus/Acquired Immune Deficiency Syndrome (HIV/AIDS) curriculum and policy. Organized into five sections, the guide begins with an introduction that includes the New Hampshire State Board of Education HIV/AIDS…

  5. Responding to HIV and AIDS. A Training Manual for United States Probation Officers. Participant's Edition.

    ERIC Educational Resources Information Center

    Tyree, Jimmy L.

    This training manual provides U.S. Probation Officers with a useful guide in understanding the dynamics of human immunodeficiency virus (HIV) and acquired immune deficiency syndrome (AIDS). It also gives advice on making this information specific and appropriate to the offenders with whom they work on their caseloads. The manual contains six core…

  6. Level of Interactivity of Videodisc Instruction on College Students' Recall of AIDS Information.

    ERIC Educational Resources Information Center

    Kritch, Kale M.; And Others

    1995-01-01

    Two experiments confirmed the greater effectiveness of constructed-response interactive videodisc instruction when compared to a click-to-continue or passive viewing formats on posttest recall of Acquired Immune Deficiency Syndrome (AIDS) information by 101 college students. The necessity of constructing answers appears to be an important factor…

  7. Considerations for Reaching the Latino Population with Sexuality and HIV/AIDS Information and Education.

    ERIC Educational Resources Information Center

    de la Vega, Ernesto

    1990-01-01

    Latino and Latina sexual attitudes and behaviors must be understood if educators and counselors hope to reach this population with effective sexuality and Human Immunodeficiency Virus/Acquired Immune Deficiency Syndrome (HIV/AIDS) information and education. The general U.S. Latino population is mostly sexually conservative; direct talk in public…

  8. A novel mutation of the adrenocorticotropin receptor (ACTH-R) gene in a family with the syndrome of isolated glucocorticoid deficiency, but no ACTH-R abnormalities in two families with the triple A syndrome

    SciTech Connect

    Tsigos, C.; Arai, K.; Latronico, A.C. ||

    1995-07-01

    Isolated glucocorticoid deficiency (IGD) is an autosomal recessive disorder characterized by primary adrenocortical insufficiency, usually without mineralocorticoid deficiency. Occasionally, the disorder is associated with alacrima and achalasia of the esophagus (triple A syndrome), suggesting potential heterogeneity in its etiology. Mutations in the ACTH receptor gene have been reported in several families with IGD. We have amplified and directly sequenced the entire intronless ACTH receptor gene in 1 other family with IGD and 2 famlies with triple A syndrome. The proband with IGD was a homozygote for an A {r_arrow}G substitution, changing tyrosine 254 to cysteine in the third extracellular loop of the receptor protein, probably interfering with ligand binding. Both of her parents were heterozygotes for this mutation, which was not detected in 100 normal alleles. No mutations were identified in the entire coding area of the ACTH receptor in the 2 families with triple A syndrome, supporting the idea of a developmental or postreceptor defect in this syndrome. 19 refs., 1 fig.

  9. AIDS and Young Children: Emerging Issues. Hearing before the Select Committee on Children, Youth, and Families. House of Representatives, One Hundredth Congress, First Session. Hearing Held in Berkeley, California.

    ERIC Educational Resources Information Center

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

    This field hearing in Berkeley, California examined: (1) the increasing incidence of babies born with, or at risk of contracting, Acquired Immune Deficiency Syndrome (AIDS); (2) the ability of health and social service systems to care for AIDS-infected infants and children and their families; and (3) prevention efforts to reduce the spread of…

  10. Psychosocial Aspects of HIV and AIDS and the Evaluation of Preventive Strategies: Report on a WHO Meeting (Lisbon, Portugal, May 28-June 1, 1990). WHO Regional Publications, European Series, No. 36.

    ERIC Educational Resources Information Center

    World Health Organization, Copenhagen (Denmark). Regional Office for Europe.

    The spread of Human Immunodeficiency Virus (HIV) and Acquired Immune Deficiency Syndrome (AIDS) depends very much on the way people behave. Individuals from some groups have been successfully persuaded to modify behaviors that put them at increased risk of HIV infection. The salient questions for future AIDS prevention and control programs are…

  11. AIDS and Young Children in South Florida. Hearing before the Select Committee on Children, Youth, and Families. House of Representatives, One Hundred First Congress, First Session (Miami, FL, August 7, 1989).

    ERIC Educational Resources Information Center

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

    This document is a record of a hearing on acquired immune deficiency syndrome (AIDS) and young children in South Florida. Opening statements are provided by Congressmen George Miller, William Lehman, and Richard Durbin; a fact sheet on AIDS and young children in South Florida is also presented. Testimony is presented by the following: (1) Ana…

  12. Technological aids to support choice strategies by three girls with Rett syndrome.

    PubMed

    Stasolla, Fabrizio; Perilli, Viviana; Di Leone, Antonia; Damiani, Rita; Albano, Vincenza; Stella, Anna; Damato, Concetta

    2015-01-01

    This study was aimed at extending the use of assistive technology (i.e., photocells, interface and personal computer) to support choice strategies by three girls with Rett syndrome and severe to profound developmental disabilities. A second purpose of the study was to reduce stereotypic behaviors exhibited by the participants involved (i.e., body rocking, hand washing and hand mouthing). Finally, a third goal of the study was to monitor the effects of such program on the participants' indices of happiness. The study was carried out according to a multiple probe design across responses for each participant. Results showed that the three girls increased the adaptive responses and decreased the stereotyped behaviors during intervention phases compared to baseline. Moreover, during intervention phases, the indices of happiness augmented for each girl as well. Clinical, psychological and rehabilitative implications of the findings are discussed. PMID:25310833

  13. A Transmembrane Polymorphism of Fcγ Receptor IIb Is Associated with Kidney Deficiency Syndrome in Rheumatoid Arthritis

    PubMed Central

    Mo, Na; Lai, Ruogu; Luo, Shizi; Xie, Jianglin; Wang, Xizi; Liu, Lijuan; Liu, Xiaoling

    2016-01-01

    Objective. The purpose is to investigate the role of kidney deficiency and the association between kidney deficiency and a polymorphism FcγRIIb 695T>C coding for nonsynonymous substitution IIe232Thr (I232T) in rheumatoid arthritis (RA). Methods. Clinical parameters and autoantibodies were analyzed and genotyping was performed in 159 kidney deficiency and 161 non-kidney-deficiency RA patients. Results. The age of disease onset and disease duration exhibited significant differences between two groups (P < 0.01). Patients with kidney deficiency tend to have higher activity of disease (P < 0.05). Anti-cyclic citrullinated peptides antibodies (ACPA) levels of patients with kidney deficiency were higher than the controls (P = 0.039). 125 (78.6%) kidney deficiency and 114 (70.8%) non-kidney-deficiency patients had both ACPA-positive and RF-positive (P = 0.04, OR = 3.29). FcγRIIb I232TT homozygotes were identified in 10 of 159 (6.3%) kidney deficiency subjects and 1 of 161 (0.6%) controls (P = 0.000, OR = 16.45). Furthermore, in pooled genotype analysis, I232IT and I232TT homozygotes were significantly enriched in kidney deficiency individuals compared with the controls (P = 0.000, OR = 3.79). Frequency of T allele was associated with kidney deficiency RA population (P = 0.000, OR = 3.18). Conclusion. This study confirmed that kidney deficiency was closely associated with disease activity and autoimmune disorder in RA. Kidney deficiency in RA is first to reveal a strong genetic link to FcγRIIb variants. PMID:27051449

  14. An n-of-1 Trial Service in Clinical Practice: Testing the Effectiveness of Liuwei Dihuang Decoction for Kidney-Yin Deficiency Syndrome

    PubMed Central

    Yuhong, Huang; Qian, Liu; Yingqiang, Zhao; Yanfen, Li; Shujing, Yu; Shufang, Qin; Lanjun, Sun; Shuxuan, Zou; Baohe, Wang

    2013-01-01

    Objective. To describe the clinical use of n-of-1 RCTs for kidney-Yin deficiency syndrome that is a traditional Chinese medicine syndrome in publicly clinical practice in China. Methods. Our study included patients with kidney-Yin deficiency syndrome, using a within-patient, randomized, double-blind, crossover comparison of Liuwei Dihuang decoction versus placebo. Outcome Measures. Primary outcome measures included number of individual completion rates, response rate, and post-n-of-1 RCTs decisions. Secondary measures were the whole group score of individual Likert scale, SF-36 questionnaire. Results. Fifty patients were recruited and 3 were not completed. Forty-seven patients completed 3 pairs of periods, 3 (6.38%) were responders, 28 (59.57%) were nonresponders, and 16 (34.05%) were possible responders. Doctors and patients used the trial results to making decision. Three responders stayed on the medication management, 28 nonresponders ceased the LDD, 7 patients of the 16 possible responders could not give clear decision, and the others kept the same medication station. Among the whole group, neither the individual Likert score nor the SF-36 showed any statistical differences between LDD and placebo. Discussion. More attention should be paid to choose experienced TCM doctor as investigator and keep the simulant same with test medication in n-of-1 RCTs of TCM and sufficiently biological half-life period of Chinese medicine compound. PMID:24174983

  15. An n-of-1 Trial Service in Clinical Practice: Testing the Effectiveness of Liuwei Dihuang Decoction for Kidney-Yin Deficiency Syndrome.

    PubMed

    Yuhong, Huang; Qian, Liu; Yu, Liu; Yingqiang, Zhao; Yanfen, Li; Shujing, Yu; Shufang, Qin; Lanjun, Sun; Shuxuan, Zou; Baohe, Wang

    2013-01-01

    Objective. To describe the clinical use of n-of-1 RCTs for kidney-Yin deficiency syndrome that is a traditional Chinese medicine syndrome in publicly clinical practice in China. Methods. Our study included patients with kidney-Yin deficiency syndrome, using a within-patient, randomized, double-blind, crossover comparison of Liuwei Dihuang decoction versus placebo. Outcome Measures. Primary outcome measures included number of individual completion rates, response rate, and post-n-of-1 RCTs decisions. Secondary measures were the whole group score of individual Likert scale, SF-36 questionnaire. Results. Fifty patients were recruited and 3 were not completed. Forty-seven patients completed 3 pairs of periods, 3 (6.38%) were responders, 28 (59.57%) were nonresponders, and 16 (34.05%) were possible responders. Doctors and patients used the trial results to making decision. Three responders stayed on the medication management, 28 nonresponders ceased the LDD, 7 patients of the 16 possible responders could not give clear decision, and the others kept the same medication station. Among the whole group, neither the individual Likert score nor the SF-36 showed any statistical differences between LDD and placebo. Discussion. More attention should be paid to choose experienced TCM doctor as investigator and keep the simulant same with test medication in n-of-1 RCTs of TCM and sufficiently biological half-life period of Chinese medicine compound. PMID:24174983

  16. Well-defined clinical presentation of Ehlers-Danlos syndrome in patients with tenascin-X deficiency: a report of four cases.

    PubMed

    Hendriks, Anke G M; Voermans, Nicol C; Schalkwijk, Joost; Hamel, Ben C; van Rossum, Michelle M

    2012-01-01

    The Ehlers-Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of inherited connective tissue disorders. The six major, well-defined, subtypes are classified according to diagnostic criteria, formalized in the Villefranche revised nosology. Shortly after the publication of these criteria in 1998, a further distinct type of EDS, the tenascin-X (TNX)-deficient type EDS, was reported. The phenotype of this largely unknown type of EDS resembles the phenotype of the classical type of EDS, but its inheritance is autosomal recessive and wound healing is normal; hence, no atrophic scars are present. The clinical diagnosis can be confirmed by the absence of TNX in the serum and by mutation analysis of the TNXB gene. Because the TNX-deficient type EDS is rare and not included in the current diagnostic criteria, this diagnosis is often delayed or even overlooked. Here, we describe four cases which improve the clinical recognition of this type of EDS. PMID:21959861

  17. Identification of novel allelic variants of integrin beta 2 (ITGB2) gene and screening for Bubaline leukocyte adhesion deficiency syndrome in Indian water buffaloes (Bubalus bubalis).

    PubMed

    Sharma, Deepak; Kumar, Subodh; Deb, Sitangsu M; Mitra, Abhijit; Niranjan, Saket K; Naskar, Soumen; Sharma, Arjava

    2009-01-01

    A fragment of 570 bp corresponding to exon 5 and 6 of integrin beta 2 (ITGB2) gene was amplified for screening D128G mutation in one hundred and fifty two buffaloes (Bubalus bubalis) which causes bovine leukocyte adhesion deficiency syndrome (BLAD) in cattle, as well as to ascertain polymorphism. TaqI PCR-RFLP revealed no such mutation thus indicating the absence of bubaline leukocyte adhesion deficiency (BuLAD) allele in animals under study. However, the polymorphism studies using MspI restriction enzyme revealed two genotypic patterns viz. AA pattern (bands of 293, 141, 105, and 31 bp) and BB pattern (bands of 293, 105, 77, 64, and 31 bp). The sequences of A and B alleles were submitted to the GenBank (EU853307 and AY821799). PMID:19544212

  18. Late onset of cryptococcal cervical lymphadenitis following immune reconstitution inflammatory syndrome in a patient with AIDS.

    PubMed

    Sethupathi, Meenakshi; Yoganathan, Kathir

    2015-01-01

    A 32-year-old woman was diagnosed HIV positive with disseminated cryptococcal infection in May 2006. Her initial CD4 was 7 cells/µL and she had a right supraclavicular nodal mass, which was biopsied and shown to be consistent with cryptococcal lymphadenitis. She was treated for disseminated cryptococcal infection and was started on antiretroviral medications subsequently. Two years later, she developed a left supraclavicular mass. Her CD4 count was 320 cells/µL and HIV RNA level was undetectable. Investigations and biopsy results were consistent with a late presentation of cryptococcal immune reconstitution inflammatory syndrome (IRIS). She was treated with oral corticosteroids and her symptoms resolved completely. IRIS is a recognised complication of HIV treatment and occurs in a significant percentage of patients within the first 3 months of starting antiretroviral therapy. This case report illustrates the importance of recognising late presentations of IRIS. It is vital to differentiate true cryptococcal lymphadenitis from IRIS-induced cryptococcal lymphadenitis. PMID:25564633

  19. Mecp2 Deficiency Decreases Bone Formation and Reduces Bone Volume in a Rodent Model of Rett Syndrome

    PubMed Central

    O’Connor, R.D.; Zayzafoon, M.; Farach-Carson, M.C.; Schanen, N.C.

    2009-01-01

    Rett Syndrome (RTT), a neurological disorder characterized by neurological impairment and a high frequency of osteopenia which often manifests early in childhood, most often is caused by inactivating mutations in the X-linked gene encoding a regulator of epigenetic gene expression, methyl CpG binding protein, MeCP2. Clinical data show that, along with neurological defects, females with RTT frequently have marked decreases in Bone Mineral Density (BMD) beyond that expected from disuse atrophy. To investigate the relationship between loss of Mecp2 and reduced BMD, we used a Mecp2 null mouse model, Mecp2−/yBIRD, for our histological and biochemical studies. Mecp2−/yBIRD mice have significantly shorter femurs and an overall reduced skeletal size compared to wild-type mice by post-natal day 60 (P60). Histological and histomorphometric studies identified growth plate abnormalities as well as decreased cortical and trabecular bone in P21 and especially in P60 Mecp2−/yBIRD mice. Dynamic histomorphometry revealed decreased Mineral Apposition Rates (MAR) in Mecp2 null femoral trabecular bone as well as in calvarial bone samples. While changes in MAR of cortical bone were not significant, loss of Mecp2 significantly reduced cortical, trabecular and calvarial bone volume compared with age-matched wild-type animals. These differences indicate that Mecp2 deficiency leads to osteoblast dysfunction, which translates into reduced osteoid deposition accounting for the reduced bone volume phenotype. While individual variations were observed in OPG and Rankl concentrations, molar ratios of OPG:Rankl at P21 and P60 were comparable between wild-type and Mecp2−/yBIRD mice and showed a consistent excess of OPG. In tibial sections, TRAP staining demonstrated equivalent osteoclast number per bone surface measurements between wild-type and null animals. Our work with a Mecp2 null mouse model suggests epigenetic regulation of bone in the Mecp2−/yBIRD mice which is associated with

  20. An AIDS campaign in Brazil.

    PubMed

    Janoff, D

    1987-01-01

    The Acquired Immune Deficiency Syndrome (AIDS) distribution program in Brazil, spearheaded by the National Division of Sanitary Surveillance in Ports, Airports, and Borders, was part of the government's massive education campaign to prevent the transmission of HIV-AIDS in Brazil. Beginning in February 1987, the climate was sufficiently favorable to operate a coordinated information campaign during the Carnival celebration, and tourists arriving in the cities of Brazil for the annual Carnival celebration were handed an educational brochure in Portugese, Spanish, English, and French. Yet, beyond reaching the tourist populations, it is particularly important to reach large portions of the Brazilian population. Planners of the national AIDS campaign intend to use television, radio, and all major newspapers in their effort to cover the country. Initial television coverage is comprised of short informational messages directed at high-risk groups. There also are plans to use radio and the print media in order to reach a wider audience. It is estimated that US $6 million will be needed to adequately meet the costs of AIDS prevention and medical care, but due to extreme budget constraints, only $45,000 has been earmarked for ongoing AIDS activities at this time. PMID:12281284