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

    Science.gov (United States)

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

    2014-12-01

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

  2. Genetics Home Reference: GLUT1 deficiency syndrome

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    ... Facebook Twitter Home Health Conditions GLUT1 deficiency syndrome GLUT1 deficiency syndrome Enable Javascript to view the expand/ ... boxes. Download PDF Open All Close All Description GLUT1 deficiency syndrome is a disorder affecting the nervous ...

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

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

    2016-09-01

    Studies show that nearly 40 million people are living with human immunodeficiency virus infection and acquired immune deficiency syndrome (HIV/AIDS) around the world and since the beginning of the epidemic, about 35 million have died from AIDS. Heterosexual intercourse is the most common route for transmission of HIV infection (85%). People with a sexually transmitted infection (STI), such as syphilis, genital herpes, chancroid, or bacterial vaginosis, are more likely to obtain HIV infection during sex. On the other hand, a patient with HIV can acquire other infections such as hepatitis C virus (HCV) and hepatitis B virus (HBV) and also STIs. Co-infections and co-morbidities can affect the treatment route of patients with HIV/AIDs. Sometimes, physicians should treat these infections before treating the HIV infection. Therefore, it is important to identify co-infection or comorbidity in patients with HIV/AIDS. This study was conducted in order to understand the prevalence of HIV/AIDS/STI co-infection. In this cross-sectional study, we evaluated all HIV/AIDS patients who were admitted to the infectious wards of Boo-Ali hospital (Southeastern Iran) between March 2000 and January 2015. All HIV/AIDS patients were studied for sexually transmitted infections (STI) such as syphilis, gonorrhea, hepatitis B virus (HBV) and genital herpes. A questionnaire including data on age, sex, job, history of vaccination against HBV, hepatitis B surface antigen (HBsAg), hepatitis B core antibody (anti-HBc), hepatitis B surface antigen (anti-HBs), HCV-Ab, venereal disease research laboratory (VDRL) test, fluorescent treponemal antibody absorption (FTA-Abs) test, and urine culture was designed. Data was analyzed by the Chi square test and P values of VDRL. The FTA-Abs was positive for all patients who were positive for VDRL. Gonorrhea was found in seven patients (17%) and three cases had genital herpes in clinical examinations. All patients who had positive test results for these STIs

  4. An unusual ocular presentation of acquired immune deficiency syndrome

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    Arunachalam Cynthia

    2008-01-01

    Full Text Available A 50-year-old male who presented with bilateral keratomalacia and on subsequent evaluation was found to be human immunodeficiency virus (HIV positive is being reported. A MEDLINE search of the literature did not reveal any report of keratomalacia as the initial presenting feature of HIV/ acquired immune deficiency syndrome.

  5. KNOWLEDGE ATTITUDE AND PRACTICE STUDY OF HUMAN IMMUNO DEFICIENCY VIRUS AND AQUIRED IMMUNO DEFICIENCY SYNDROME (HIV/AIDS AMONG RURAL POPULATION OF TAMIL NADU (INDIA

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    Sanjay Kumar Gupta

    2013-01-01

    Full Text Available Research question: What is the knowledge, attitude and practice towards HIV/AIDS in a general population? Objectives: (1 To assess the knowledge about mode of transmission, treatment and prevention of HIV/AIDS. (2 To study the socio demographic pattern, myths and misconceptions. Study design: Community based cross sectional study. Setting: Chunampett Village, Tamilnadu. Duration: March to May 2007. Participants: 845 both males and females above the age of 18 years interviewed at home. Results: Population surveyed was 845, comprising of 482 (57.04% males and 363 (42.96% females. Most of them were Hindus (96.10%. Main occupation was agriculture (39.41% among males and house wives (33.73% among females. 40.35% respondents belonged to low socioeconomic status. Illiteracy rate was high especially among females (43%.Source of information about HIV/AIDS was mass media in about 85% of the population. Majority of individuals (58.5% were not aware that the disease was contagious. An overwhelming majority (98.59% were aware about the mode of transmission of HIV/AIDS through sexual route. However about 20% had myths regarding transmission of disease. 65% knew that HIV/AIDS is preventable, yet only 4% used condoms. A vast majority (60-65% were not aware that treatment and PEP were available free of cost in government hospitals. A majority of about 54.22% were of the opinion that the diagnosis of HIV/AIDS should not be kept confidential. Conclusion: The awareness about HIV / AIDS is high among the study population but the implementation of preventive measures is low. The knowledge about availability of prophylactic and therapeutic measures against HIV / AIDS in Govt. hospitals is also low.

  6. Hyperthyroidism caused by acquired immune deficiency syndrome.

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

    2014-01-01

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

  7. SAMHD1-deficient CD14+ cells from individuals with Aicardi-Goutières syndrome are highly susceptible to HIV-1 infection.

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    André Berger

    2011-12-01

    Full Text Available Myeloid blood cells are largely resistant to infection with human immunodeficiency virus type 1 (HIV-1. Recently, it was reported that Vpx from HIV-2/SIVsm facilitates infection of these cells by counteracting the host restriction factor SAMHD1. Here, we independently confirmed that Vpx interacts with SAMHD1 and targets it for ubiquitin-mediated degradation. We found that Vpx-mediated SAMHD1 degradation rendered primary monocytes highly susceptible to HIV-1 infection; Vpx with a T17A mutation, defective for SAMHD1 binding and degradation, did not show this activity. Several single nucleotide polymorphisms in the SAMHD1 gene have been associated with Aicardi-Goutières syndrome (AGS, a very rare and severe autoimmune disease. Primary peripheral blood mononuclear cells (PBMC from AGS patients homozygous for a nonsense mutation in SAMHD1 (R164X lacked endogenous SAMHD1 expression and support HIV-1 replication in the absence of exogenous activation. Our results indicate that within PBMC from AGS patients, CD14+ cells were the subpopulation susceptible to HIV-1 infection, whereas cells from healthy donors did not support infection. The monocytic lineage of the infected SAMHD1 -/- cells, in conjunction with mostly undetectable levels of cytokines, chemokines and type I interferon measured prior to infection, indicate that aberrant cellular activation is not the cause for the observed phenotype. Taken together, we propose that SAMHD1 protects primary CD14+ monocytes from HIV-1 infection confirming SAMHD1 as a potent lentiviral restriction factor.

  8. Cryptosporidiosis in the acquired immune deficiency syndrome.

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

    1984-10-01

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

  9. Acquired immune deficiency syndrome: review.

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

    1986-07-19

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

  10. Iron Deficiency in Autism and Asperger Syndrome.

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

    2002-01-01

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

  11. Physiologic growth hormone replacement improves fasting lipid kinetics in patients with HIV lipodystrophy syndrome

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    HIV lipodystrophy syndrome (HLS) is characterized by accelerated lipolysis, inadequate fat oxidation, increased hepatic reesterification, and a high frequency of growth hormone deficiency (GHD). The effect of growth hormone (GH) replacement on these lipid kinetic abnormalities is unknown. We aimed ...

  12. Vitamin D Deficiency in HIV Infection: Not Only a Bone Disorder

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    Pasquale Mansueto

    2015-01-01

    Full Text Available Hypovitaminosis D is a worldwide disorder, with a high prevalence in the general population of both Western and developing countries. In HIV patients, several studies have linked vitamin D status with bone disease, neurocognitive impairment, depression, cardiovascular disease, high blood pressure, metabolic syndrome, type 2 diabetes mellitus, infections, autoimmune diseases like type 1 diabetes mellitus, and cancer. In this review, we focus on the most recent epidemiological and experimental data dealing with the relationship between vitamin D deficiency and HIV infection. We analysed the extent of the problem, pathogenic mechanisms, clinical implications, and potential benefits of vitamin D supplementation in HIV-infected subjects.

  13. Androgen deficiency and metabolic syndrome in men

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    Winter, Ashley G; Zhao, Fujun; Lee, Richard K.

    2014-01-01

    Metabolic syndrome (MetS) is a growing health concern worldwide. Initially a point of interest in cardiovascular events, the cluster of HTN, obesity, dyslipidemia, and insulin resistance known as MetS has become associated with a variety of other disease processes, including androgen deficiency and late-onset hypogonadism (LOH). Men with MetS are at a higher risk of developing androgen deficiency, and routine screening of testosterone (T) is advised in this population. The pathophysiology of ...

  14. Sneddon syndrome associated with Protein S deficiency.

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

    2012-01-01

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

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

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

    2016-01-15

    Testosterone deficiency in adult age is associated with a decrease in libido, energy, hematocrit, muscle mass and bone mineral density, as well as with depression. More recently, testosterone deficiency has also been associated with various components of the metabolic syndrome, which in turn is associated with a five-fold increase in the risk of cardiovascular disease. Low testosterone levels are associated with increased insulin resistance, increase in fat mass, low HDL cholesterol, higher triglyceride levels and hypertension. Testosterone replacement therapy in patients with testosterone deficiency and type 2 diabetes mellitus and/or metabolic syndrome has shown reductions in insulin resistance, total cholesterol, LDL cholesterol and triglycerides and improvement in glycemic control and anthropometric parameters. Copyright © 2015 Elsevier España, S.L.U. All rights reserved.

  16. Sneddon syndrome associated with Protein S deficiency

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    Refah Sayin

    2012-01-01

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

  17. Audiological and Ontological Findings in Acquired Immune-Deficiency Syndrome (AIDS

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    Farzaneh Vadoudfam

    2001-05-01

    Full Text Available The human immunodeficiency virus (HIV is the virus that causes AIDS (acquired immune-deficiency syndrome. Head and neck are the most common sites in contamination with this virus. HIV can affect outer, middle and inner parts of the ear. Changing in the color of the skin, effusion, infection and sudden hearing loss are some types of the audiological and ontological findings in such patients.

  18. Investigation on HIV/AIDS coinfected with HBV/HCV in acquired immune deficiency syndrome area%某艾滋病治疗示范区HIV/AIDS患者合并HBV/HCV感染调查

    Institute of Scientific and Technical Information of China (English)

    梁红霞; 张倩; 余祖江; 钮正春; 李志勤; 潘延凤; 赵清霞; 李建生; 何云

    2011-01-01

    Objective To investigate the incidence of HIV/AIDS coinfected with HBV and/or HCV in some country of Henan province and the clinical features. Methods Serum samples were obtained from 187 HIV - infected patients who transmitted by paid blood donation. ELISA was used to detect HBV erologic markers( HbsAg, Anti - HBs, HbeAg, anti - Hbe and anti - HBc) and HCV antibody. Flow Cytometry were used to detect CD4 + T cell count. Nested PCR was used to amplify surface protein region of HBV DNA. Results Among 187 HIV - infected patients, 9 patients (4. 81% )were HBsAg positive, 178 patients (95. 19% ) HBsAg negative; 143 patients (76. 47% ) anti - HCV positive, 44 patients( 23. 53% ) anti - HCV negative; 6 patients HIV -1, HBV and HCV triple infection. Of the 143 anti - HCV positive patients, 42 patients (29. 37% ) were coinfected with occult HBV infection, in the 44 anti - HCV negative patients, 11 patients (25. 00% ) were coinfected with occult HBV infection, the disparity had no statistical significance (P > 0. 05 ). The positive patients of HbsAg, anti - HBs, isolated anti - HBc andthe CD4 + cell counts were undifferentiated between anti - HCV positive patients and anti - HCV negative patients ( P > 0. 05 ) . Conclusions In the HIV - infected patients who transmitted by paid blood donation, the HBsAg positive rate is lower than common population, and the HCV infection rate is higher than common population; It is found that occult HBV infection did occurs in HIV - infected patients. HBV DNA testing is necessary in the HIV - infected patients who are HBsAg negative; The occult HBV infection rate of HIV - infected patients who are coinfected with HCV isrit increase.%目的 探讨人免疫缺陷病毒-1 (HIV -1) /AIDS患者合并乙型肝炎病毒(HBV)/丙型肝炎病毒(HCV)感染情况及发病特点.方法 分析国家"十一五重大专项"课题中河南某获得性免疫缺陷综合征(Acquired immunodeficiency syndrome,AIDS)示范区中187例经血液途径感染HIV

  19. Atypical Manifestations in Glut1 Deficiency Syndrome.

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

    2016-08-01

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

  20. HIV/AIDS and Alcohol

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    ... 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, ...

  1. Drugs + HIV, Learn the Link

    Medline Plus

    Full Text Available ... What are HIV and AIDS? HIV (human immunodeficiency virus) is the virus that causes AIDS (acquired immune deficiency syndrome). AIDS ... but no cure, at the present time. The virus (HIV) and the disease it causes (AIDS) are ...

  2. Acute coronary syndromes in patients with HIV

    Science.gov (United States)

    Seecheran, Valmiki K.; Giddings, Stanley L.

    2017-01-01

    Highly active antiretroviral treatment (HAART) has considerably increased the life expectancy of patients infected with HIV. Coronary artery disease is a leading cause of mortality in patients infected with HIV. This is primarily attributed to their increased survival, HAART-induced metabolic derangements, and to HIV itself. The pathophysiology of atherosclerosis in HIV is both multifactorial and complex – involving direct endothelial injury and dysfunction, hypercoagulability, and a significant contribution from traditional cardiac risk factors. The advent of HAART has since heralded a remarkable improvement in outcomes, but at the expense of other unforeseen issues. It is thus of paramount importance to swiftly recognize and manage acute coronary syndromes in HIV-infected patients to attenuate adverse complications, which should translate into improved clinical outcomes. PMID:27845996

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

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

    2016-11-01

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

  4. HIV-2 and its role in conglutinated approach towards Acquired Immunodeficiency Syndrome (AIDS) Vaccine Development.

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    Diwan, Batul; Saxena, Rupali; Tiwari, Archana

    2013-12-01

    Acquired Immunodeficiency Syndrome (AIDS) is one of the most critically acclaimed endemic diseases, caused by two lentiviruses HIV-1 and 2. HIV-2 displays intimate serological and antigenic resemblance to Simian Immunodeficiency Virus (SIV) along with less pathogenicity, lower infectivity and appreciable cross reactivity with HIV-1 antigens. The present era is confronted with the challenge to fabricate a vaccine effective against all clades of both the species of HIV. But vaccine development against HIV-1 has proven highly intricate, moreover the laborious and deficient conventional approaches has slackened the pace regarding the development of new vaccines. These concerns may be tackled with the development of HIV-2 vaccine as a natural control of HIV-1 that has been found in ancestors of HIV-2 i.e. African monkeys, mangabeys and macaques. Thereby, suggesting the notion of cross protection among HIV-2 and HIV-1. Assistance of bioinformatics along with vaccinomics strategy can bring about a quantum leap in this direction for surpassing the bottleneck in conventional approaches. These specifics together can add to our conception that HIV-2 vaccine design by in silico strategy will surely be a constructive approach for HIV-1 targeting.

  5. The metabolic syndrome in HIV

    DEFF Research Database (Denmark)

    Worm, Signe W; Lundgren, Jens D

    2011-01-01

    discusses why the prevalence of MS in the setting of HIV has been reported to range from 7-45% and how antiretroviral drugs might contribute to the development of MS. The MS has been reported to be a 'CVD risk enhancer', and much debate is ongoing on the independent risk of CVD associated with the MS. Based...... on a limited number of studies on MS in HIV with clinical end-points, there is no data to support that the MS is independently associated with an increased risk of CVD....

  6. Susac's syndrome as HIV-associated immune reconstitution inflammatory syndrome.

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    Ferretti, Francesca; Gerevini, Simonetta; Colombo, Bruno; Testa, Manuela; Guffanti, Monica; Franciotta, Diego; Bernardi, Gaetano; Lazzarin, Adriano; Cinque, Paola

    2013-09-03

    Susac's Syndrome (SS) is an autoimmune endotheliopathy of cerebral, retinal and cochlear arterioles. We report of an HIV-infected woman who developed a first SS episode following a spontaneous reduction of plasma viral load and several relapses six years later, following initiation of combined antiretroviral therapy (cART). Corticosteroids and intravenous immunoglobulins alone did not control the disease, which improved after combined treatment with acyclovir and ganciclovir. SS onset in HIV infection and relapses during cART-induced immune reconstitution are consistent with the dysimmune nature of the disease. The response to anti-herpes drugs suggests a viral contribute in this case of SS.

  7. Diagnostic criteria for constitutional mismatch repair deficiency syndrome

    DEFF Research Database (Denmark)

    Wimmer, Katharina; Kratz, Christian P; Vasen, Hans F A;

    2014-01-01

    Constitutional mismatch repair deficiency (CMMRD) syndrome is a distinct childhood cancer predisposition syndrome that results from biallelic germline mutations in one of the four MMR genes, MLH1, MSH2, MSH6 or PMS2. The tumour spectrum is very broad, including mainly haematological, brain...

  8. Biochemical Manifestation of HIV Lipodystrophy Syndrome

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    Kenneth Ihenetu, PhD

    2012-11-01

    Full Text Available Objectives:Highly active anti-retroviral therapy (HAART, including protease inhibitors (PI have led to dramatic improvements in the quality and quantity of life in patients with acquired immunodeficiency syndrome (AIDS. However, a significant number of AIDS patients on HAART develop characteristic changes in body fat redistribution referred to as lipodystrophy syndrome (LDS. Features of LDS include hypertrophy in the neck fat pad (buffalo hump, increased fat in the abdominal region (protease paunch, gynecomastia and loss of fat in the mid-face and extremities.Methods:The aim of this paper is to review the current knowledge regarding this syndrome. This article reviews the published investigations on biochemical manifestation of HIV lipodystrophy syndrome.Results:It is estimated that approximately 64% of patients treated with PI will experience this syndrome. Biochemically, these patients have increased triglycerides (Trig, total cholesterol (TC, low-density lipoprotein-cholesterol (LDL-C and extremely low high-density lipoprotein-cholesterol (HDL-C.Conclusions and Public Health Implications:It is hoped that awareness of this syndrome would aid in early diagnosis and better patient management, possibly leading to a lower incidence of cardiovascular complications among these patients.

  9. Extremely prolonged HIV seroconversion associated with an MHC haplotype carrying disease susceptibility genes for antibody deficiency disorders.

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    Padiglione, Alex; Aleksic, Eman; French, Martyn; Arnott, Alicia; Wilson, Kim M; Tippett, Emma; Kaye, Matthew; Gray, Lachlan; Ellett, Anne; Crane, Megan; Leslie, David E; Lewin, Sharon R; Breschkin, Alan; Birch, Chris; Gorry, Paul R; McPhee, Dale A; Crowe, Suzanne M

    2010-11-01

    Severe immunodeficiency during primary human immunodeficiency virus (HIV) infection is unusual. Here, we characterized viral and immunological parameters in a subject presenting with Pneumocystis jirovecii pneumonia in the setting of prolonged primary HIV illness and delayed seroconversion. HIV antibody was only detected by enzyme-linked immunosorbent assay 12 months after presentation, and Western blot profiles remain indeterminate. Isolated virus was of R5 phenotype, exhibited poor viral fitness, but was otherwise unremarkable. Analysis of HIV antibody isotypes showed failure to mount a detectable HIV IgG response over nearly 2 years of infection, in particular IgG(1)- and IgG(3)-specific responses, despite normal responses to common infections and vaccines. Genetic analysis demonstrated homozygosity for part of an MHC haplotype containing susceptibility genes for common variable immunodeficiency (CVID) syndrome and other antibody deficiency disorders. Thus, a primary disorder of specific antibody production may explain exceptionally slow antibody development in an otherwise severe seroconversion illness. This highlights the need for multiparameter testing, in particular use of a fourth generation HIV test, for confirming HIV infection and underscores the importance of host factors in HIV pathogenesis. Copyright © 2010 Elsevier Inc. All rights reserved.

  10. Behcet's disease in acquired immune deficiency syndrome

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    Beenish Siddiqui

    2016-01-01

    Full Text Available 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.

  11. Vitamin D deficiency is common in HIV-infected southern Australian adults.

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    Klassen, Karen M; Fairley, Christopher K; Kimlin, Michael G; Hocking, Jane; Kelsall, Liza; Ebeling, Peter R

    2016-01-01

    Vitamin D deficiency can have serious health consequences and may be particularly important for those living with HIV. It is unknown whether HIV infection is a risk factor for vitamin D deficiency. The aim of the study was to determine whether vitamin D deficiency is more common in HIV-infected than in HIV-uninfected individuals. This was a cross-sectional study of HIV-infected and uninfected individuals. A total of 997 HIV-infected participants were from a sexual health clinic in Melbourne with 25(OH)D measurements taken between 2008 and 2012. 3,653 HIV-uninfected individuals were participants in a statewide Victorian survey with 25(OH)D measurements taken between 2009 and 2010. Logistic regression models evaluated the association of HIV status with vitamin D deficiency (25[OH]D5 (aOR 1.4; 95% CI 1.2, 1.8; P<0.001) and HIV infection (aOR 1.7; 95% CI 1.4, 2.1; P<0.001) were associated with vitamin D deficiency. Adults living in southern Australia with HIV were more likely to be vitamin D deficient than the general population.

  12. Risk factors for vitamin D deficiency among veterans with and without HIV infection.

    Directory of Open Access Journals (Sweden)

    Alicia I Hidron

    Full Text Available We aimed to describe and compare the prevalence of vitamin D deficiency between HIV-negative and HIV-infected veterans in the southern United States, and to determine risk factors for vitamin D deficiency for HIV infected patients.Cross-sectional, retrospective study including all patients followed at the Atlanta VA Medical Center with the first 25-hydroxyvitamin D [25(OHD] level determined between January 2007 and August 2010. Multivariate logistic regression analysis was used to determine risk factors associated with vitamin D deficiency (< 20 ng/ml.There was higher prevalence of 25(OHD deficiency among HIV-positive compared to HIV-negative patients (53.2 vs. 38.5%, p <0.001. Independent risk factors for vitamin D deficiency in HIV + patients included black race (OR 3.24, 95% CI 2.28-4.60, winter season (OR 1.39, 95% CI 1.05-1.84 and higher GFR (OR 1.01, CI 1.00-1.01; increasing age (OR 0.98, 95% CI 0.95-0.98, and tenofovir use (OR 0.72, 95% CI 0.54-0.96 were associated with less vitamin D deficiency.Vitamin D deficiency is a prevalent problem that varies inversely with age and affects HIV-infected patients more than other veterans in care. In addition to age, tenofovir and kidney disease seem to confer a protective effect from vitamin D deficiency in HIV-positive patients.

  13. Drugs + HIV, Learn the Link

    Medline Plus

    Full Text Available ... is the virus that causes AIDS (acquired immune deficiency syndrome). AIDS is a disease of the immune ... infected pregnant women can pass HIV to their babies during pregnancy, delivery, and breastfeeding. HIV destroys a ...

  14. Drugs + HIV, Learn the Link

    Medline Plus

    Full Text Available ... causes AIDS (acquired immune deficiency syndrome). AIDS is a disease of the immune system for which there ... causes (AIDS) are often linked and referred to as "HIV/AIDS." HIV can be transferred between people ...

  15. Glut1 deficiency syndrome and novel ketogenic diets.

    Science.gov (United States)

    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.

  16. Exceptional Association Between Klinefelter Syndrome and Growth Hormone Deficiency

    OpenAIRE

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

    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

  17. West syndrome due to vitamin B12 deficiency.

    Science.gov (United States)

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

    2015-12-01

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

  18. Growth hormone deficiency in a Nigerian child with Turner's syndrome

    African Journals Online (AJOL)

    IRORO YARHERE

    Keywords: Turner's syndrome, short stature, growth hormone deficiency, ... CD is a 15-year-old female who presented to the consultant paediatric .... system thus promoting growth.4,7,8 Randomised controlled trials have ... improve non-verbal processing speed, motor performance and verbal and non-verbal memory.

  19. Augmented cell death with Bloom syndrome helicase deficiency.

    Science.gov (United States)

    Kaneko, Hideo; Fukao, Toshiyuki; Kasahara, Kimiko; Yamada, Taketo; Kondo, Naomi

    2011-01-01

    Bloom syndrome (BS) is a rare autosomal genetic disorder characterized by lupus-like erythematous telangi-ectasias of the face, sun sensitivity, infertility, stunted growth, upper respiratory infection, and gastrointestinal infections commonly associated with decreased immuno-globulin levels. The syndrome is associated with immuno-deficiency of a generalized type, ranging from mild and essentially asympto-matic to severe. Chromosomal abnormalities are hallmarks of the disorder, and high frequencies of sister chromatid exchanges and quadriradial configurations in lymphocytes and fibroblasts are diagnostic features. BS is caused by mutations in BLM, a member of the RecQ helicase family. We determined whether BLM deficiency has any effects on cell growth and death in BLM-deficient cells and mice. BLM-deficient EB-virus-transformed cell lines from BS patients and embryonic fibroblasts from BLM-/- mice showed slower growth than wild-type cells. BLM-deficient cells showed abnormal p53 protein expression after irradiation. In BLM-/- mice, small body size, reduced number of fetal liver cells and increased cell death were observed. BLM deficiency causes the up-regulation of p53, double-strand break and apoptosis, which are likely observed in irradiated control cells. Slow cell growth and increased cell death may be one of the causes of the small body size associated with BS patients.

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

    Science.gov (United States)

    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 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. Is vitamin D deficiency involved in the immune reconstitution inflammatory syndrome?

    Directory of Open Access Journals (Sweden)

    Moreno-Reyes Rodrigo

    2009-04-01

    Full Text Available Abstract Background About 20–30% of persons with HIV infection, especially those living in countries with limited resources, experience an immune reconstitution inflammatory syndrome (IRIS after starting antiretroviral treatment. The active form of vitamin D, 1,25-dihydroxyvitamin D, is a key player in the clearance of pathogens and influences the level of inflammation and macrophage activation. Presentation of the hypothesis We hypothesize that low availability of 1,25-dihydroxyvitamin D, either due to vitamin D deficiency or due to polymorphisms in the vitamin D receptor or in its activating/inactivating enzymes, contributes to the appearance of IRIS. Furthermore, drug interactions with the enzymatic pathways of vitamin D could favour the development of IRIS. Testing the hypothesis Our hypothesis could be explored by a case-control study to assess the prevalence of vitamin D deficiency in HIV-infected patients on antiretroviral treatment who develop and do not develop IRIS. Implications of the hypothesis If the role of vitamin D in IRIS is confirmed, we would be able to screen patients at risk for IRIS by screening for vitamin D deficiency. After confirmation by means of a clinical trial, vitamin D supplementation could be a cheap and safe way to reduce the incidence of IRIS.

  2. Correction of Iron Deficiency in the Cardiorenal Syndrome

    Directory of Open Access Journals (Sweden)

    Donald S. Silverberg

    2011-01-01

    Full Text Available Impaired energy metabolism is a feature of Congestive Heart Failure (CHF. Iron deficiency has been shown to reduce energy production in the cell in animals and humans. Iron deficiency is common in both Chronic Kidney Disease (CKD and in CHF. Recent studies suggest that iron deficiency is an independent risk factor for mortality in CHF. Studies of correction of the anemia with intravenous (IV iron in both CKD and CHF have shown an improvement in the anemia and, in some cases, in the renal function as well. Some CHF studies of correction of the iron deficiency have shown an improvement in cardiac function and structure as well as in exercise capacity and quality of life. This occurred independent of whether or not they had anemia, suggesting that the iron deficiency itself may be independently contributing to the worsening of the CHF and CKD. If future long-term studies confirm the safety and efficacy of IV iron in the treatment of iron deficiency in CKD and CHF, this will become a new addition to the therapeutic armamentarium of the cardiorenal syndrome, and parameters of iron deficiency will become part of the routine measurements performed in both CKD and CHF whether or not the patient is anemic.

  3. Lipidomic dataset of plasma from patients infected with wild type and nef-deficient HIV-1 strain

    Directory of Open Access Journals (Sweden)

    Peter Meikle

    2016-03-01

    Full Text Available Previous in vitro and in vivo studies demonstrated that HIV protein nef plays a key role in impairing cellular and systemic cholesterol metabolism in HIV disease, but clinical support for these findings is lacking. Here we present the data of comparative lipidomic analysis (330 lipid species of plasma samples from HIV-negative subjects, patients infected with WT HIV-1 strain and patients infected with nef-deficient strain of HIV-1. We determine which effects of HIV on plasma lipidome are explained by the presence of nef. The data can be used to evaluate cardiovascular risk in HIV disease and to assess the role of nef in HIV-induced disturbances in systemic lipid metabolism. The full impact of nef deficiency on lipid and lipoprotein metabolism in HIV-infected patients is presented in the accompanying study “Lipid Metabolism in Patients Infected with Nef-deficient HIV-1 Strain” [1].

  4. Deficiency of Bloom syndrome helicase activity is radiomimetic.

    Science.gov (United States)

    Horowitz, David P; Topaloglu, Ozlem; Zhang, Yonggang; Bunz, Fred

    2008-11-01

    Bloom syndrome is caused by homozygous mutations in BLM, which encodes a RecQ DNA helicase. Patient-derived cells deficient in BLM helicase activity exhibit genetic instability--apparent cytogenetically as sister chromatid exchanges--and activated DNA damage signaling. In this report, we show that BLM-knockout colorectal cancer cells exhibited endogenous, ATM-dependent double-strand DNA break responses similar to those recently observed in Bloom syndrome patient-derived cells. Xenograft tumors established from BLM-deficient cancer cells were not radiosensitive, but exhibited growth impairment that was comparable to that of wild type tumors treated with a single, high dose of ionizing radiation. These results suggest that pharmacological inhibitors of BLM would have a radiomimetic effect and that transient inhibition of BLM activity might be a viable strategy for anticancer therapy.

  5. Refeeding syndrome in a young woman with argininosuccinate lyase deficiency

    Directory of Open Access Journals (Sweden)

    M. Stuy

    2015-09-01

    Full Text Available A severely chronically protein and calorie restricted young woman with argininosuccinate lyase deficiency developed transient refeeding syndrome (RFS and hyperammonemia after modest diet liberalization following initiation of glycerol phenylbutyrate (GPB. The patient required IV supportive care and supplementation with potassium, magnesium and calcium. She is now doing well on GPB and an appropriate maintenance diet. Susceptibility to RFS should be considered in chronically nutritionally restricted patients with metabolic disorders after liberalization of diet.

  6. Refeeding syndrome in a young woman with argininosuccinate lyase deficiency.

    Science.gov (United States)

    Stuy, M; Chen, G-F; Masonek, J M; Scharschmidt, B F

    2015-09-01

    A severely chronically protein and calorie restricted young woman with argininosuccinate lyase deficiency developed transient refeeding syndrome (RFS) and hyperammonemia after modest diet liberalization following initiation of glycerol phenylbutyrate (GPB). The patient required IV supportive care and supplementation with potassium, magnesium and calcium. She is now doing well on GPB and an appropriate maintenance diet. Susceptibility to RFS should be considered in chronically nutritionally restricted patients with metabolic disorders after liberalization of diet.

  7. Refractory absence epilepsy associated with GLUT-1 deficiency syndrome.

    LENUS (Irish Health Repository)

    Byrne, Susan

    2011-05-01

    GLUT-1 deficiency syndrome (GLUT-1 DS) is a disorder of cerebral glucose transport associated with early infantile epilepsy and microcephaly. We report two boys who presented with refractory absence epilepsy associated with hypoglycorrhachia, both of whom have genetically confirmed GLUT-1 DS. We propose that these children serve to expand the phenotype of GLUT-1 DS and suggest that this condition should be considered as a cause of refractory absence seizures in childhood.

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

    OpenAIRE

    Kenneth eBlum; Thanos, Panayotis K.; Mark Stephen Gold

    2014-01-01

    Obesity as a result of overeating as well as a number of well described eating disorders has been accurately considered to be a world-wide epidemic. Recently a number of theories backed by a plethora of scientifically sound neurochemical and genetic studies provide strong evidence that food addiction is similar to psychoactive drug addiction. Our laboratory has published on the concept known as Reward Deficiency Syndrome (RDS) which is a genetic and epigenetic phenomena leading to impairment ...

  9. Insights into pathogenic events of HIV-associated Kaposi sarcoma and immune reconstitution syndrome related Kaposi sarcoma

    Directory of Open Access Journals (Sweden)

    Lemmer Johan

    2008-01-01

    Full Text Available Abstract A decrease in the incidence of human immune deficiency virus-associated Kaposi sarcoma (HIV-KS and regression of some established HIV-KS lesions is evident after the introduction of highly active anti-retroviral treatment (HAART, and is attributed to generalized immune restoration, to the reconstitution of human herpesvirus (HHV-8 specific cellular immune responses, and to the decrease in HIV Tat protein and HHV-8 loads following HAART. However, a small subset of HIV-seropositive subjects with a low CD4+ T cell count at the time of introduction of HAART, may develop HIV-KS as immune reconstitution inflammatory syndrome (IRIS within 8 weeks thereafter.

  10. [Vitamin D deficiency rickets complicating Dorfman-Chanarin syndrome].

    Science.gov (United States)

    Barraud, C; Cano, A; Boulay, C; Milh, M; Bollini, G; Chabrol, B

    2015-04-01

    Vitamin D deficiency rickets remains a public health issue in many parts of the world. In France, this diagnosis has almost disappeared since 1992 with routine vitamin D supplementation for children. Therefore, it is more difficult for doctors to identify risk factors and early signs of this disease. In this article, we report a rickets diagnosis acquired by vitamin D deficiency in a child who presented with the onset of a genu valgum and difficulty walking at the age of 9½ years. This patient was a Comorian child followed up from his birth for Dorfman-Chanarin syndrome. Dorfman-Chanarin syndrome is a rare disease, with about 80 cases reported in the literature. It belongs to the group of neutral lipid storage diseases (NLSD) characterized especially on the skin by ichthyosis. This child presented risk factors for vitamin D deficiency (dark skin color, prolonged and exclusive breastfeeding, premature end of supplementation, and particularly severe ichthyosis) that should have alerted us to the risk of vitamin D deficiency and the need for supplementation. This case highlights the importance of vitamin D, especially if there are risk factors such as ichthyosis, and the need to remain watchful in monitoring all chronic diseases.

  11. [The frequency and development of tissue iron deficiency in 6 iron deficiency anemia patients with plummer-vinson syndrome].

    Science.gov (United States)

    Uchida, T; Matsuno, M; Ide, M; Kawachi, Y

    1998-11-01

    The physical signs of tissue iron deficiency include smooth and red tongue, angular stomatitis, koilonychia, and pica. The incidence of these conditions is unknown in Japan. We evaluated the frequency and development of tissue iron deficiency in 353 patients with iron deficiency anemia. The frequency of tissue iron deficiency was 6.8%; papillary atrophy of the tongue, 5.4%; abnormal nails, 5.4%; angular stomatitis, 1.1%; Plummer-Vinson syndrome, 1.7%; and pica, 0.06%. These findings were compared with the date collected by Wintrobe and Beveridge. The development and incidence of tissue iron deficiency correlated significantly with the severity of iron deficiency anemia.

  12. Geriatric Syndromes in Older HIV-Infected Adults.

    Science.gov (United States)

    Greene, Meredith; Covinsky, Kenneth E; Valcour, Victor; Miao, Yinghui; Madamba, Joy; Lampiris, Harry; Cenzer, Irena Stijacic; Martin, Jeffrey; Deeks, Steven G

    2015-06-01

    Geriatric syndromes such as falls, frailty, and functional impairment are multifactorial conditions used to identify vulnerable older adults. Limited data exist on these conditions in older HIV-infected adults, and no studies have comprehensively examined these conditions. Geriatric syndromes including falls, urinary incontinence, functional impairment, frailty, sensory impairment, depression, and cognitive impairment were measured in a cross-sectional study of HIV-infected adults aged 50 years and older who had an undetectable viral load on antiretroviral therapy. We examined both HIV and non-HIV-related predictors of geriatric syndromes including sociodemographics, number of comorbidities and nonantiretroviral medications, and HIV-specific variables in multivariate analyses. We studied 155 participants with a median age of 57 (interquartile range: 54-62) and 94% were men. Prefrailty (56%), difficulty with instrumental activities of daily living (46%), and cognitive impairment (47%) were the most frequent geriatric syndromes. Lower CD4 nadir incidence rate ratio [IRR: 1.16, 95% (confidence interval) CI: 1.06 to 1.26], non-white race (IRR: 1.38, 95% CI: 1.10 to 1.74), and increasing number of comorbidities (IRR: 1.09, 95% CI: 1.03 to 1.15) were associated with increased risk of having more geriatric syndromes. Geriatric syndromes are common in older HIV-infected adults. Treatment of comorbidities and early initiation of antiretroviral therapy may help to prevent development of these age-related complications. Clinical care of older HIV-infected adults should consider incorporation of geriatric principles.

  13. Flail arm-like syndrome associated with HIV-1 infection

    Directory of Open Access Journals (Sweden)

    Nalini A

    2009-01-01

    Full Text Available During the last 20 years at least 23 cases of motor neuron disease have been reported in HIV-1 seropositive patients. In this report we describe the clinical picture of a young man with HIV-1 clade C infection and flail arm-like syndrome, who we were able to follow-up for a long period. We investigated and prospectively monitored a 34-year-old man with features of flail arm syndrome, who developed the weakness and wasting 1 year after being diagnosed with HIV-1 infection after a routine blood test. He presented in 2003 with progressive, symmetrical wasting and weakness of the proximal muscles of the upper limb of 2 years′ duration. He had severe wasting and weakness of the shoulder and arm muscles. There were no pyramidal signs. He has been on HAART for the last 4 years and the weakness or wasting has not worsened. At the last follow-up in July 2007, the patient had the same neurological deficit and no other symptoms or signs of HIV-1 infection. MRI of the spinal cord in 2007 showed characteristic T2 hyperintense signals in the central part of the spinal cord, corresponding to the central gray matter. Thus, our patient had HIV-1 clade C infection associated with a ′flail arm-like syndrome.′ The causal relationship between HIV-1 infection and amyotrophic lateral sclerosis (ALS-like syndrome is still uncertain. The syndrome usually manifests as a lower motor neuron syndrome, as was seen in our young patient. It is known that treatment with antiretroviral therapy (ART stabilizes/improves the condition. In our patient the weakness and atrophy remained stable over a period of 3.5 years after commencing HAART regimen.

  14. HIV-related ocular microangiopathic syndrome and cognitive functioning.

    Science.gov (United States)

    Geier, S A; Perro, C; Klauss, V; Naber, D; Kronawitter, U; Bogner, J R; Goebel, F D; Lund, O E; Hippius, H

    1993-03-01

    Ocular microangiopathic syndrome is found frequently in patients with AIDS or severe HIV infection. Symptoms of this microvascular syndrome can include cotton-wool spots, hemorrhages, and Roth's spots. The clinical and functional significance of HIV-related ocular microangiopathic syndrome has not been clarified as yet. The objective of this study was to evaluate a possible association between HIV-related ocular microangiopathic syndrome and cognitive functioning. Thirty-seven patients infected with HIV (24 with AIDS) underwent ophthalmological and neuropsychological examination. HIV-related ocular microangiopathic syndrome was measured by counting the number of cotton-wool spots in both eyes. Neuropsychological examination included five standardized tests, with the first three primarily measuring function of short-term memory; these tests were as follows: the Auditory-Verbal Learning Test, the Benton Test, the Stroop Colour Word Test, the Trail-Making Part B test, and the Vocabulary for Measuring Premorbid Intelligence test. HIV-related ocular microangiopathic syndrome was found in 15 patients with AIDS (62.5%), and in one patient, staged Walter Reed 5. In 10 patients, one eye was affected (mean count of cotton-wool spots 1.5). In six patients, both eyes were affected (mean count of cotton-wool spots 7.0). Univariate correlations between the number of cotton-wool spots in both eyes and test scores were as follows: Auditory-Verbal Learning Test: 0.56 (p < 0.001); Benton Test: 0.51 (p < 0.001); Stroop Colour and Word: 0.50 (p < 0.001); Trail-Making Part B: 0.15 (not significant); Vocabulary for Measuring Premorbid Intelligence: -0.05 (not significant). Multiple correlation between the test scores and the number of cotton-wool spots was 0.70 (p < 0.001).(ABSTRACT TRUNCATED AT 250 WORDS)

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

    Science.gov (United States)

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

    2016-11-01

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

  16. Vitamin D deficiency in HIV-infected patients: a systematic review

    Directory of Open Access Journals (Sweden)

    Giusti A

    2011-11-01

    Full Text Available Andrea Giusti1, Giovanni Penco2, Giulio Pioli31Bone Clinic, Department of Gerontology and Musculoskeletal Sciences, Galliera Hospital, Genoa, Italy; 2Department of Infectious Diseases, Galliera Hospital, Genoa, Italy; 3Department of Geriatrics, ASMN Hospital, Reggio Emilia, ItalyAbstract: Advances in the diagnosis and management of human immunodeficiency virus (HIV have resulted in a dramatic decrease in mortality in HIV-infected individuals (HIV+. The subsequent increase in life expectancy of HIV+ has led to the need to consider the long-term complications of the disease and its treatment. Abnormalities in vitamin D status and metabolism are increasingly recognized as a major concern in HIV infection. In the last 5 years a number of cross-sectional and prospective studies have suggested a high prevalence of vitamin D deficiency in HIV+. Although few case-control studies have been published, it has been suggested that the prevalence of hypovitaminosis D in HIV+ is higher than in the general population, and at least in part, is related to the course of the disease and/or the antiretroviral drugs used to treat the disease. An adequate vitamin D status is important not only for bone tissue, but also for the global health status of HIV+ individuals, since a growing body of evidence has demonstrated the detrimental effects of vitamin D deficiency on multiple health outcomes. Therefore, definition of the size of the problem and identification of effective protocols for the prevention and management of vitamin D deficiency in HIV+ patients represent important steps in improving health status and reducing long-term chronic complications in individuals with HIV. Due to its immunomodulatory effects, vitamin D may also have implications in the progression of HIV infection. This systematic review was designed to determine the prevalence of vitamin D deficiency in HIV+ patients; to identify risk factors (related to the HIV infection or not potentially

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

    Science.gov (United States)

    Tsujino, S; Miyamoto, T; Kanazawa, N

    2001-11-01

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

  18. The Change-Over of Yin-yang and Gene Regulation in Kidney Deficiency Syndromes

    Institute of Scientific and Technical Information of China (English)

    DONG Fei-xia; HE Li-qun

    2009-01-01

    The present paper studies gene regulation in kidney deficiency syndromes from the simple Nephrotic Syndrome and with the principle of positive-negative regulation to control the change-over ofyin-yang, the modern molecular biological techniques can be used, such as gene chip, representational difference analysis (RDA) and gene sequence analysis, so as to investigate the inner relationship between the genes and kidney deficiency syndromes and prove the effect given by these genes on the pathophysiological status of change-over ofyin-yang in kidney deficiency syndromes.This philosophical approach and method can also be adopted for studies of the related genes in other TCM syndromes.

  19. 某艾滋病治疗示范区人免疫缺陷病毒感染者合并隐匿性乙型肝炎病毒感染的调查分析%A cross-sectional survey of occult hepatitis B virus infection in HIV-infected patients in acquired immune deficiency syndrome area

    Institute of Scientific and Technical Information of China (English)

    梁红霞; 陈媛媛; 周荣; 张倩; 潘延凤; 谷军生; 李娟; 江河清; 余祖江

    2010-01-01

    Objective To assess the prevalence of occult HBV infection in HIV-infected patients inacquired immune deficiency syndrome area. Methods Serum samples were obtained from 97 HIV-infected patients who transmitted by paid blood donation. ELISA was used to detect HBV erologic markers (HBsAg, Anti-HBs, HBeAg, anti-HBe and anti-HBc) and HCV antibody. Flow Cytometry were used to detect CD4 +T cell count. Nested PCR was used to amplify surface protein region of HBV DNA. Results Ninety two patients were HBsAg negative in the 97 HIV-infected patients(94. 85% ). Twenty seven patients were co-infected with occult hepatitis B virus infection in the 92 HBsAg negative patients (29. 35% ).Seventy three patients were co-infected with HCV in the 92 HBsAg negative patients(79.35% ). CD4 cell count of subjects with occult HBV infection were significantly lower (212. 11 ± 133. 1 cells/mm3 versus 318.9 ± 172.2 cells/mm3, respectively, P <0. 01 ). A significantly higher prevalence of isolated anti-HBc was observed in HIV-infected subjects co-infectionded with occult HBV infection [62. 96% ( 13 of 27 )versus 18.46% (15 of 65 ) , P < 0. 01]. No statistical significant association could be established between the age, sex and whether co-infected with HCV. Conclusion It is found that occult HBV infection did occurs in HIV-infected patients. Individuals co-infected with HIV and occult HBV infection are more likely to have isolated anti-HBc than subjects with HIV alone. Co-infection with HIV and occult HBV is more%目的 调查分析某艾滋病治疗示范区人免疫缺陷病毒(HIV)-1感染者中隐匿性乙型肝炎病毒(HBV)感染的情况及其影响因素.方法 采集某艾滋病治疗示范区97例经血感染HIV-1的感染者的血浆,采用酶联免疫吸附试验(ELISA)检测乙型肝炎表面抗原与抗体(HBsAg与抗HBs)、乙型肝炎e抗原与抗体(HBeAg与抗Hbe)、乙型肝炎核心抗体(抗HBc)及丙型肝炎抗体(抗HCV);采用吸附柱法抽提HBV DNA;采用巢

  20. Bilateral Central Retinal Vein Occlusions Combined with Artery Occlusions in A Patient with Acquired Immune Deficiency Syndrome

    Institute of Scientific and Technical Information of China (English)

    Feng Wen; Xuemei Chen; Haitai Li; Ruiduan Liao; Dezheng Wu

    2002-01-01

    Purpose: This is the first report of a bilateral nonischemic central retinal vein occlusionscombined with artery occlusions in a patient with acquired immune deficiency syndrome(AIDS). Methods: Case report. Results: A 22-year-old Chinese(male) with a positive human immunodeficiency virus(HIV) infection developed bilateral nonischemic central retinal vein occlusions combinedwith artery occlusions and severe vision loss. The manifestations of the fundus andfluorescein angiography were similar in both eyes.Conclusion: This case report provides the evidences that central retinal vein and arteryocclusions are probably part of the spectrum of AIDS vascular diseases.

  1. Possible association between vitamin D deficiency and restless legs syndrome

    Directory of Open Access Journals (Sweden)

    Oran M

    2014-05-01

    Full Text Available Mustafa Oran,1 Cuneyt Unsal,2 Yakup Albayrak,2 Feti Tulubas,3 Keriman Oguz,4 Okan Avci,1 Nilda Turgut,4 Recep Alp,4 Ahmet Gurel3 1Department of Internal Medicine, 2Department of Psychiatry, 3Department of Biochemistry, 4Department of Neurology, Namik Kemal University, Faculty of Medicine, Tekirdağ, Turkey Background and aim: Restless legs syndrome (RLS is a distressing sleep disorder that occurs worldwide. Although there have been recent developments in understanding the pathophysiology of RLS, the exact mechanism of the disease has not been well elucidated. An increased prevalence of neurologic and psychiatric diseases involving dopaminergic dysfunction in vitamin D-deficient patients led us to hypothesize that vitamin D deficiency might result in dopaminergic dysfunction and consequently, the development of RLS (in which dopaminergic dysfunction plays a pivotal role. Thus, the aim of this study was to evaluate the relationship between vitamin D deficiency and RLS. Methods: One hundred and fifty-five consecutive patients, 18–65 years of age, who were admitted to the Department of Internal Medicine with musculoskeletal symptoms and who subsequently underwent neurological and electromyography (EMG examination by the same senior neurologist, were included in this study. The patients were divided into two groups according to serum 25-hydroxyvitamin D (25(OHD (a vitamin D metabolite used as a measure of vitamin D status level: 36 patients with serum 25(OHD levels ≥20 ng/mL comprised the normal vitamin D group, and 119 patients with serum 25(OHD levels <20 ng/mL comprised the vitamin D deficiency group. The two groups were compared for the presence of RLS and associated factors. Results: The two groups were similar in terms of mean age, sex, mean body mass index (BMI, and serum levels of calcium, phosphate, alkaline phosphatase (ALP, and ferritin. The presence of RLS was significantly higher in the vitamin D deficiency group (χ2=12.87, P<0

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

    Science.gov (United States)

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

    2007-02-01

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

  3. The earliest cases of human immunodeficiency virus type 1 group M in Congo-Kinshasa, Rwanda and Burundi and the origin of acquired immune deficiency syndrome.

    Science.gov (United States)

    Vangroenweghe, D

    2001-06-29

    The early cases of acquired immune deficiency syndrome and human immunodeficiency virus type 1 (HIV-1) infection in the 1960s and 1970s in Congo-Kinshasa (Zaire), Rwanda and Burundi are reviewed. These countries appear to be the source of the HIV-1 group M epidemic, which then spread outwards to neighbouring Tanzania and Uganda in the east, and Congo-Brazzaville in the west. Further spread to Haiti and onwards to the USA can be explained by the hundreds of single men from Haiti who participated in the UNESCO educational programme in the Congo between 1960 and 1975.

  4. Clinical features and treatment of hepatitis B virus and hepatitis C virus co-infection among patients with acquired immune deficiency syndrome

    Institute of Scientific and Technical Information of China (English)

    杨蓉蓉

    2014-01-01

    Objective To estimate the clinical features of hepatitis B virus(HBV)and hepatitis C virus(HCV)co-infection among acquired immune deficiency syndrome(AIDS)patients and the interaction of lamivudine(3 TC)contained antiretroviral therapy(ART)with hepatitis virus replication.Methods From 2004 to 2010,199human immunodeficiency virus(HIV)/HBV coinfected patients admitted to Zhongnan Hospital of Wuhan University were enrolled,including 76 cases of HIV/HBV/HCV triple infection and 123 cases of

  5. Kleine–Levin syndrome with comorbid iron deficiency anemia

    Science.gov (United States)

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

    2015-01-01

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

  6. Metabolic Syndrome After HIV Acquisition in South African Women.

    Science.gov (United States)

    Sobieszczyk, Magdalena E; Werner, Lise; Mlisana, Koleka; Naicker, Nivashnee; Feinstein, Addi; Gray, Clive M; Masson, Lindi; Passmore, Jo-Ann S; Williamson, Carolyn; Abdool Karim, Quarraisha; Abdool Karim, Salim S; Garrett, Nigel J

    2016-12-01

    Noncommunicable diseases are common among chronically infected patients with HIV in the developed world, but little is known about these conditions in African cohorts. We assessed the epidemiology of metabolic syndrome among young South African women during the first 3 years after HIV acquisition. A total of 160 women were followed prospectively in the CAPRISA 002 Acute Infection study. Metabolic syndrome was defined as a constellation of hyperlipidemia, hypertension, hyperglycemia/diabetes, and abdominal obesity. Time trends were assessed using generalized estimation equation models. Median age was 24 years and body mass index 27 kg/m. Prevalence of metabolic syndrome at infection was 8.7% increasing to 19.2% over 36 months (P = 0.001). The proportion of women with body mass index >30 kg/m increased from 34.4% to 47.7% (P = 0.004), those with abnormal waist circumference and elevated blood pressure increased from 33.5% to 44.3% (P = 0.060) and 23.8% to 43.9% (P metabolic syndrome was 9.13/100 person-years (95% CI: 6.02 to 13.28). Predictors of metabolic syndrome were age (per year increase odds ratio (OR) = 1.12; 95% CI: 1.07 to 1.16), time postinfection (per year OR = 1.47; 95% CI: 1.12 to 1.92), family history of diabetes (OR = 3.13; 95% CI: 1.71 to 5.72), and the human leukocyte antigen (HLA)-B*81:01 allele (OR = 2.95; 95% CI: 1.21 to 7.17), whereas any HLA-B*57 or B*58:01 alleles were protective (OR = 0.34; 95% CI: 0.15 to 0.77). HIV-1 RNA (OR = 0.89; 95% CI: 0.62 to 1.27) and CD4 count (OR = 1.03; 95% CI: 0.95 to 1.11) did not predict metabolic syndrome. The high burden of metabolic conditions in young South African HIV-infected women highlights the need to integrate noncommunicable disease and HIV care programs. Interventions to prevent cardiovascular disease must start at HIV diagnosis, rather than later during the disease course.

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

    Science.gov (United States)

    Torres, Rosa J; Puig, Juan G

    2007-12-08

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

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

    Directory of Open Access Journals (Sweden)

    Puig Juan G

    2007-12-01

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

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

    Science.gov (United States)

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

    2010-12-01

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

  10. High prevalence of the metabolic syndrome in HIV-infected patients: impact of different definitions of the metabolic syndrome

    DEFF Research Database (Denmark)

    Worm, Signe H.Westring; Friis-Møller, Nina; Bruyand, Mathias

    2010-01-01

    This study describes the characteristics of the metabolic syndrome in HIV-positive patients in the Data Collection on Adverse Events of Anti-HIV Drugs study and discusses the impact of different methodological approaches on estimates of the prevalence of metabolic syndrome over time....

  11. High prevalence of the metabolic syndrome in HIV-infected patients: impact of different definitions of the metabolic syndrome.

    NARCIS (Netherlands)

    Worm, S.W.; Friis-Moller, N.; Bruyand, M.; d'Arminio Monforte, A.; Rickenbach, M.; Reiss, P.; El-Sadr, W.; Phillips, A.; Lundgren, J.; Sabin, C.; Gyssens, I.C.J.

    2010-01-01

    INTRODUCTION: This study describes the characteristics of the metabolic syndrome in HIV-positive patients in the Data Collection on Adverse Events of Anti-HIV Drugs study and discusses the impact of different methodological approaches on estimates of the prevalence of metabolic syndrome over time.

  12. High prevalence of the metabolic syndrome in HIV-infected patients : impact of different definitions of the metabolic syndrome

    NARCIS (Netherlands)

    Worm, Signe W; Friis-Møller, Nina; Bruyand, Mathias; D'Arminio Monforte, Antonella; Rickenbach, Martin; Reiss, Peter; El-Sadr, Wafaa; Phillips, Andrew; Lundgren, Jens; Sabin, Caroline; Schölvinck, Elisabeth H.

    2010-01-01

    INTRODUCTION: This study describes the characteristics of the metabolic syndrome in HIV-positive patients in the Data Collection on Adverse Events of Anti-HIV Drugs study and discusses the impact of different methodological approaches on estimates of the prevalence of metabolic syndrome over time.

  13. High prevalence of the metabolic syndrome in HIV-infected patients: impact of different definitions of the metabolic syndrome

    NARCIS (Netherlands)

    S.W. Worm; N. Friis-Møller; M. Bruyand; A. d'Arminio Monforte; M. Rickenbach; P. Reiss; W. El-Sadr; A. Phillips; J. Lundgren; C. Sabin

    2010-01-01

    INTRODUCTION: This study describes the characteristics of the metabolic syndrome in HIV-positive patients in the Data Collection on Adverse Events of Anti-HIV Drugs study and discusses the impact of different methodological approaches on estimates of the prevalence of metabolic syndrome over time. M

  14. High prevalence of the metabolic syndrome in HIV-infected patients : impact of different definitions of the metabolic syndrome

    NARCIS (Netherlands)

    Worm, Signe W; Friis-Møller, Nina; Bruyand, Mathias; D'Arminio Monforte, Antonella; Rickenbach, Martin; Reiss, Peter; El-Sadr, Wafaa; Phillips, Andrew; Lundgren, Jens; Sabin, Caroline; Schölvinck, Elisabeth H.

    2010-01-01

    INTRODUCTION: This study describes the characteristics of the metabolic syndrome in HIV-positive patients in the Data Collection on Adverse Events of Anti-HIV Drugs study and discusses the impact of different methodological approaches on estimates of the prevalence of metabolic syndrome over time. M

  15. High prevalence of the metabolic syndrome in HIV-infected patients: impact of different definitions of the metabolic syndrome.

    NARCIS (Netherlands)

    Worm, S.W.; Friis-Moller, N.; Bruyand, M.; d'Arminio Monforte, A.; Rickenbach, M.; Reiss, P.; El-Sadr, W.; Phillips, A.; Lundgren, J.; Sabin, C.; Gyssens, I.C.J.

    2010-01-01

    INTRODUCTION: This study describes the characteristics of the metabolic syndrome in HIV-positive patients in the Data Collection on Adverse Events of Anti-HIV Drugs study and discusses the impact of different methodological approaches on estimates of the prevalence of metabolic syndrome over time. M

  16. High prevalence of the metabolic syndrome in HIV-infected patients: impact of different definitions of the metabolic syndrome.

    NARCIS (Netherlands)

    Worm, S.W.; Friis-Moller, N.; Bruyand, M.; d'Arminio Monforte, A.; Rickenbach, M.; Reiss, P.; El-Sadr, W.; Phillips, A.; Lundgren, J.; Sabin, C.; Gyssens, I.C.J.

    2010-01-01

    INTRODUCTION: This study describes the characteristics of the metabolic syndrome in HIV-positive patients in the Data Collection on Adverse Events of Anti-HIV Drugs study and discusses the impact of different methodological approaches on estimates of the prevalence of metabolic syndrome over time. M

  17. High prevalence of the metabolic syndrome in HIV-infected patients : impact of different definitions of the metabolic syndrome

    NARCIS (Netherlands)

    Worm, Signe W; Friis-Møller, Nina; Bruyand, Mathias; D'Arminio Monforte, Antonella; Rickenbach, Martin; Reiss, Peter; El-Sadr, Wafaa; Phillips, Andrew; Lundgren, Jens; Sabin, Caroline; Schölvinck, Elisabeth H.

    2010-01-01

    INTRODUCTION: This study describes the characteristics of the metabolic syndrome in HIV-positive patients in the Data Collection on Adverse Events of Anti-HIV Drugs study and discusses the impact of different methodological approaches on estimates of the prevalence of metabolic syndrome over time. M

  18. Feasibility of Measuring Immune Resp, Activation in Foreskin/Mucosa in HIV-, Uncircumcised High-HIV-risk MSM, Lima Peru

    Science.gov (United States)

    2015-12-10

    HIV Infections; Acquired Immunodeficiency Syndrome; Lentivirus Infections; Retroviridae Infections; RNA Virus Infections; Virus Diseases; Sexually Transmitted Diseases, Viral; Sexually Transmitted Diseases; Immunologic Deficiency Syndromes; Immune System Diseases; Slow Virus Diseases

  19. [Pathogenesis of lipodystrophy and metabolic syndromes associated with HIV infection].

    Science.gov (United States)

    Muñoz-Sanz, Agustín; Rodríguez-Vidigal, Francisco F; Domingo, Pere

    2006-09-30

    Lipodystrophy, and the metabolic alterations (dislipemia, insulin-resistance) associated with human immunodeficiency virus (HIV) infection, is a multifactorial syndrome due to the interaction of host related factors (cellular immune status, diet, gene mutations), viral factors (cytokine synthesis, polyunsaturated fatty acid or PUFA depletion), and pharmacological effects (mitochondrial DNA-polymerase inhibition, lipolysis inhibition, adiponectin synthesis reduction). HIV probably modifies the adipocyte differentiation and the lipid metabolism. This retroviral effect is mediated by proinflammatory cytokines (tumor necrosis factor) and the participation of other factors (drugs, diet), all in the context of a particular host genetic setting. The adipocyte (and several cellular receptors, fatty acids, membrane proteins, and cytokines) plays a central role in the pathogenesis of HIV-associated lipodystrophy.

  20. An unusual neurological feature of HIV-1 encephalopathy: Gerstmann's syndrome.

    Science.gov (United States)

    Cirelli, A; Ciardi, M; Salotti, A; Rossi, F

    1994-06-01

    The authors describe the first case in literature of Gerstmann's syndrome (agraphia, acalculia, finger agnosia) occurred in HIV correlated encephalopathy developed as the first severe manifestation of HIV infection in a patient with prevalent white matter neuroradiologic alterations. The PDL rapidly extended from the left subcortical parietal-occipital regions to the pre-rolandic one, with subsequent involvement of the corpus calosum splenium and the bilateral temporal lobes white matter. The authors indicate the extent of the lesions and the involvement of the interhemispheric connection fibres as the pathogenetic mechanism of the "Gerstmann syndrome", that until today has not been reported in the literature of the wide variety of AIDS dementia complex. The administration of 1 g of zidovudine for about 9 months did not avoid the establishing of the neurologic damage, but the sudden suspension of the drug could have enhanced the exacerbation of inflammation and the involvement of areas whose lesion is classically believed responsible for cognitive impairment.

  1. Qualitative study on the protective factors of resilience among children in rural areas in acquired immune deficiency syndrome(HIV/AIDS)-Affected families%我国部分农村地区受艾滋病影响儿童心理弹性的保护性因素研究

    Institute of Scientific and Technical Information of China (English)

    史从戎; 张曼华; 王宇; 来源; 高保兴; 乔晓春

    2011-01-01

    [目的]调查山西省某艾滋病比较集中的地区,探讨该区受艾滋病影响儿童心理弹性的保护性因素.[方法]采用儿童焦虑性情绪障碍筛查表和儿童抑郁障碍自评量表,将受艾滋病影响儿童筛分为心理弹性组与非弹性组,再采用半结构访谈的方法,对弹性组的儿童进行调查. [结果]受艾滋病影响儿童心理弹性的保护性因素可划分为四个因素.家庭因素包括父母的关心和支持、民主的教育方式、父母的榜样力量;学校包括老师的关心、同伴的支持;认知包括对父母的评价、相信自己、对未来的期望;行为包括倾诉、寻求帮助、感恩与回报. [结论]在对受艾滋病影响儿童进行心理干预时,应综合考虑家庭、学校、认知、行为等因素.促进其心理弹性的发展,增进其心理健康.%[Objective] To explore the protective factors of resilience among children in acquired immune deficiency syndrome(HIV/AIDS)-Affected families in Shanxi. [Methods] Children in HIV/AIDS families were allocated into resilience group and non-resilience group by The Screen for Child Anxiety Related Emotional Disorders and Depression Self-rating Scale for Children. Then semi-structured interviews were conducted among the resilience group. [Results] The protective factors of resilience among children include four factors. The factor of family consists of care of parents, democratic family education and a good example of parents. Care of teachers and support of peers were included in the factor of school.Estimate of parents, belief in themselves and expectation for the future were organized into the factors of cognition. Pouring out, searching for help and thanksgiving were packed in the factors of behaviors. [Conclusion] Family, school, cognition and behavior should be considered comprehensively in the psychological intervention for the children in HIV/AIDS family to make them more resilient and more healthy.

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

    Science.gov (United States)

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

    2015-01-01

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

  3. Vitamin D deficiency in a cohort of HIV-infected patients: clinical analysis

    Directory of Open Access Journals (Sweden)

    B Vandercam

    2012-11-01

    Full Text Available Purpose of the study: Observational studies have noted very high rates of low serum 25-hydroxyvitamin D [25(OHD3] levels in both general and HIV-infected populations. In HIV-infected patients, low 25(OHD3 levels are secondary to a combination of usual risk factors and HIV-specific risk factors, like antiretroviral therapy [1]. The objective of our study is to analyse the magnitude of vitamin D deficiency or insufficiency and the role of various factors such as age, sex, ethnicity, season, and antiretroviral medications in our cohort of HIV-infected patients. Methods: We prospectively collected data on 25-hydroxyvitamin D levels sampled between January 2009 and June 2011 from our cohort of 930 HIV-infected patients. Vitamin D dosage was performed using immunoassay (‘Diasorin’ - Saluggia, Italy. We divided vitamin D levels into 3 categories: 25-hydroxyvitamin D levels <20 mg/nl were considered deficient, insufficient between 20 and 29 ng/ml. Levels ≥30 ng/ml were defined as normal [2]. Data on demographic features (age, ethnicity, season, heterosexuality vs homosexuality, clinical features and laboratory findings (CD4 cell count, viral load, HAART, BMI were collected from patients’ medical records using our institutional database ‘Medical explorer v3r9, 2009’. Summary of results: Overall, 848 patients were included in our study (Table 1. Low levels of serum 25(OHD3 were seen in 89.3% of the study population, from which 69.5% were deficient and 19.8% were insufficient. On univariate analysis, female sex, high BMI, black African, heterosexuality, undetectable viral load and antiretroviral treatment were all predictors of vitamin D deficiency and insufficiency. Treatment with efavirenz and tenofovir were the most associated with low vitamin D levels. On multivariate analysis (multiple linear regression model only female sex (OR=1.14; 95% CI 0.84–0.96; p<0.001, dosage during winter months (OR=1.14; 95% CI 1–1.15; p<0.05 and HAART (OR=1

  4. Dopamine and glucose, obesity and Reward Deficiency Syndrome

    Directory of Open Access Journals (Sweden)

    Kenneth eBlum

    2014-09-01

    Full Text Available Obesity and many well described eating disorders are accurately considered a global epidemic. The consequences of Reward Deficiency Syndrome, a genetic and epigenetic phenomena that involves the interactions of powerful neurotransmitters, are impairments of brain reward circuitry, hypodopaminergic function and abnormal craving behavior. Numerous sound neurochemical and genetic studies provide strong evidence that food addiction is similar to psychoactive drug addiction. Important facts which could translate to potential therapeutic targets espoused in this review include: 1 brain dopamine (DA production and use is stimulated by consumption of alcohol in large quantities or carbohydrates bingeing; 2 in the mesolimbic system the enkephalinergic neurons are in close proximity, to glucose receptors; 3 highly concentrated glucose activates the calcium channel to stimulate dopamine release from P12 cells; 4 blood glucose and cerebrospinal fluid concentrations of homovanillic acid, the dopamine metabolite, are significantly correlated and 5 2-deoxyglucose the glucose analogue, in pharmacological doses associates with enhanced dopamine turnover and causes acute glucoprivation. Evidence from animal studies and human fMRI support the hypothesis that multiple, but similar brain circuits are disrupted in obesity and drug dependence and DA-modulated reward circuits are involved in pathologic eating behaviors. Treatment for addiction to glucose and drugs alike, based on a consensus of neuroscience research, should incorporate dopamine agonist therapy, in contrast to current theories and practices that use dopamine antagonists. Until now, powerful dopamine-D2 agonists have failed clinically, due to chronic down regulation of D2 receptors instead, consideration of novel less powerful D2 agonists that up-regulate D2 receptors seems prudent. We encourage new strategies targeted at improving DA function in the treatment and prevention of obesity a subtype of

  5. Nutritional Deficiencies and Food Insecurity Among HIV-infected Children in Tanzania

    Directory of Open Access Journals (Sweden)

    Chelsea E. Modlin, BA

    2014-09-01

    Full Text Available Background: Poor nutrition has been associated with impaired immunity and accelerated disease progression in HIV- infected children. The aim of this study was to quantify the levels of nutrient intake in HIV-infected children and compare these to standard recommendations. Methods: We surveyed HIV-infected Tanzanian children enrolled in a pediatric care program that provided routine nutritional counseling and vitamin supplementation. We obtained anthropometric measurements and determined 24-hour macronutrient and micronutrient intakes and food insecurity. Values were compared to recommended nutrient intakes based on age and gender. Results: We interviewed 48 pairs of children and their caregiver(s. The age of the child ranged from 2-14 years; median age 6 and 60% female. The median weight-for-height z-score for children ≤ 5 years was 0.69 and BMI-for-age z-scores for children >5 was -0.84. Macronutrient evaluation showed that 29 (60% children were deficient in dietary intake of energy; deficiency was more common in older children (p=0.004. Micronutrient evaluation shows that over half of study subjects were deficient in dietary intake of vitamin A, vitamin D, vitamin E, thiamine, riboflavin, niacin, folate, vitamin B12, and calcium. Food insecurity was reported by 20 (58% caregivers. Conclusions and Public Health Implications: The diets of many HIV-infected children at a specialized treatment center in Tanzania do not meet recommended levels of macro- and micro-nutrients. Food insecurity was a contributory factor. Enhanced dietary counseling and provision of macro- and micro-nutrient supplements will be necessary to achieve optimal nutrition for most HIV-infected children in resource-poor regions.

  6. Vitamin D Deficiency in HIV-Infected Children.

    Science.gov (United States)

    Mirza, Ayesha; Wells, Saran; Gayton, Tabitha; Smotherman, Carmen; Rathore, Azeem; Kraemer, Dale; Rathore, Mobeen

    2016-11-01

    Improvement in life expectancy with the use of combination antiretroviral therapy has come with the recognition of the complications associated with chronic human immunodeficiency virus infection. Vitamin D has been of particular interest because of its effect on bone health and immune functions. The purpose of this study was to assess vitamin D status in children in relation to the duration and severity of their human immunodeficiency virus infection and nutritional status, as well as to determine whether there was any effect of seasonality. The study design was cross-sectional and all children 0 to 21 years of age were eligible to participate. A total of 59 participants provided informed consent, with 54 subjects completing all study activities. Thirteen (24.1%) had sufficient vitamin D levels, 13 (24.1%) had insufficient levels, and 28 (51.9%) had deficient levels per the guidelines of the Endocrine Society. In our univariate analysis, younger age was associated with higher vitamin D levels (P = 0.030). Higher CD4 counts were associated with higher vitamin D levels (P = 0.018). A significant association between the vitamin D intake per day and vitamin D level was seen (P = 0.013). In the multivariate analysis, the best ordinal logistic regression model had the CD4 count as predictor (P < 0.005), higher CD4 counts were associated with decreased odds of vitamin D deficiency (odds ratio 0.47, 95% confidence interval 0.28-0.80). Vitamin D deficiency was common among the patients included in this study.

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

    Science.gov (United States)

    Tack, Jan; Deloose, Eveline

    2014-08-01

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

  8. Cernunnos/XLF Deficiency: A Syndromic Primary Immunodeficiency

    Directory of Open Access Journals (Sweden)

    Funda Erol Çipe

    2014-01-01

    Full Text Available 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.

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

    Science.gov (United States)

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

    2016-11-01

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

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

    Science.gov (United States)

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

    2017-08-26

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

  11. High prevalence of the metabolic syndrome in HIV-infected patients

    DEFF Research Database (Denmark)

    Worm, Signe Westring; Friis-Møller, Nina; Bruyand, Mathias

    2010-01-01

    This study describes the characteristics of the metabolic syndrome in HIV-positive patients in the Data Collection on Adverse Events of Anti-HIV Drugs study and discusses the impact of different methodological approaches on estimates of the prevalence of metabolic syndrome over time....

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

    Science.gov (United States)

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

    2016-01-01

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

  13. A Hypereosinophilic Syndrome Associated with HIV Infection

    Science.gov (United States)

    1992-01-01

    mucosa of patients with coeliac disease . J Exp Med 1992; 175: 293 29. Enockihara H, Kajitani H, Nagashima S, et al. Interleukin-5 activity in sera...exhibited clinical and histopathologic similarities to the idiopathic hypereominophilic syndrome as well as acute graft -versus -host disease . A serum...MD **** Paul M Benson LTC MC USA * and the Military Medical Consortium for Applied Retroviral Research * Department of Bacterial Diseases Walter Reed

  14. Diagnosis of growth hormone (GH deficiency: comparison of pituitary stalk interruption syndrome and transient GH deficiency

    Directory of Open Access Journals (Sweden)

    Brauner Raja

    2009-05-01

    Full Text Available Abstract Background Most patients with childhood non-organic growth hormone (GH deficiency (GHD produce a normal GH peak as young adults. Our objectives were to better define this transient GHD and evaluate the factors influencing the growth response of patients with pituitary stalk interruption syndrome (PSIS. Methods We studied 72 prepubertal patients with a GH peak Results At diagnosis, 64% of Group 1 and one Group 2 were During the first year of GH treatment, the growth rate was ≥ 2 SDS in 81% Group 1 and 37% Group 2 patients. In Group 1, it was negatively correlated with the GH peak before treatment (P The height gain SDSs between diagnosis and adult height were 1.7 ± 1.2 in Group 1 (n = 30 and 1.08 ± 0.8 in Group 2 (n = 12, P = 0.05. Conclusion The factors of the growth response to GH treatment should be analysed separately for each population: with and without PSIS or other markers.

  15. Cortical sinovenous thrombosis in a child with nephrotic syndrome and iron deficiency anaemia.

    Directory of Open Access Journals (Sweden)

    Meena A

    2000-07-01

    Full Text Available Cortical sinovenous thrombosis in a child with nephrotic syndrome and iron deficiency anaemia is described. The most probable mechanism for the hypercoagulable state was thrombocytosis associated with iron deficiency anaemia. The other possible contributing factor might have been the diuretic therapy during the phase of relapse.

  16. Mechanistic Models Predict Efficacy of CCR5-Deficient Stem Cell Transplants in HIV Patient Populations.

    Science.gov (United States)

    Hosseini, I; Gabhann, F Mac

    2016-02-01

    Combination antiretroviral therapy (cART) effectively suppresses viral load in HIV-infected individuals, but it is not a cure. Bone marrow transplants using HIV-resistant stem cells have renewed hope that cure is achievable but key questions remain e.g., what percentage of stem cells must be HIV-resistant to achieve cure?. As few patients have undergone transplants, we built a mechanistic model of HIV/AIDS to approach this problem. The model includes major players of infection, reproduces the complete course of the disease, and simulates crucial components of clinical treatments, such as cART, irradiation, host recovery, gene augmentation, and donor chimerism. Using clinical data from 172 cART-naïve HIV-infected individuals, we created virtual populations to predict performance of CCR5-deficient stem-cell therapies and explore interpatient variability. We validated our model against a published clinical study of CCR5-modified T-cell therapy. Our model predicted that donor chimerism must exceed 75% to achieve 90% probability of cure across patient populations.

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

    Science.gov (United States)

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

    2014-01-01

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

  18. HIV-2 and its role in conglutinated approach towards Acquired Immunodeficiency Syndrome (AIDS) Vaccine Development

    OpenAIRE

    Diwan, Batul; Saxena, Rupali; Tiwari, Archana

    2013-01-01

    Acquired Immunodeficiency Syndrome (AIDS) is one of the most critically acclaimed endemic diseases, caused by two lentiviruses HIV-1 and 2. HIV-2 displays intimate serological and antigenic resemblance to Simian Immunodeficiency Virus (SIV) along with less pathogenicity, lower infectivity and appreciable cross reactivity with HIV-1 antigens. The present era is confronted with the challenge to fabricate a vaccine effective against all clades of both the species of HIV. But vaccine development ...

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

    Directory of Open Access Journals (Sweden)

    Kenneth Blum

    2008-11-01

    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 defi cient 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.Keywords: attention deficit hyperactivity disorder (ADHD, genes, reward dependence, reward deficiency syndrome, treatment, neuropsychological deficits

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

    Science.gov (United States)

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

    2017-04-25

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

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

  3. Pyrimidine pool imbalance induced by BLM helicase deficiency contributes to genetic instability in Bloom syndrome.

    Science.gov (United States)

    Chabosseau, Pauline; Buhagiar-Labarchède, Géraldine; Onclercq-Delic, Rosine; Lambert, Sarah; Debatisse, Michelle; Brison, Olivier; Amor-Guéret, Mounira

    2011-06-28

    Defects in DNA replication are associated with genetic instability and cancer development, as illustrated in Bloom syndrome. Features of this syndrome include a slowdown in replication speed, defective fork reactivation and high rates of sister chromatid exchange, with a general predisposition to cancer. Bloom syndrome is caused by mutations in the BLM gene encoding a RecQ helicase. Here we report that BLM deficiency is associated with a strong cytidine deaminase defect, leading to pyrimidine pool disequilibrium. In BLM-deficient cells, pyrimidine pool normalization leads to reduction of sister chromatid exchange frequency and is sufficient for full restoration of replication fork velocity but not the fork restart defect, thus identifying the part of the Bloom syndrome phenotype because of pyrimidine pool imbalance. This study provides new insights into the molecular basis of control of replication speed and the genetic instability associated with Bloom syndrome. Nucleotide pool disequilibrium could be a general phenomenon in a large spectrum of precancerous and cancer cells.

  4. Nutrition and HIV

    DEFF Research Database (Denmark)

    Friis, Henrik; Olsen, Mette Frahm; Filteau, Suzanne

    2017-01-01

    The impact of the global human immunodeficiency virus (HIV)/acquired immune deficiency syndrome (AIDS) epidemic is most severe in sub-Saharan African countries already affected by undernutrition and food insecurity. There is a two-way relationship between HIV and undernutrition and food insecurity......, which is mainly synergistic and operating at different levels. HIV infection increases energy and nutrient requirements, yet it reduces food security. The result is nutritional deficiencies, which increase progression of HIV infection. Both undernutrition and food insecurity may also lead to increased...... risk of transmission. Nutritional intake and status may affect metabolism of antiretroviral drugs, some of which may affect body composition, and increase risk of the metabolic syndrome. In addition, HIV is transmitted through breastfeeding, causing a serious infant feeding dilemma for which...

  5. 阳虚生风论%Theory of Feng-Syndrome Caused by Yang Deficiency

    Institute of Scientific and Technical Information of China (English)

    潘远根

    2016-01-01

    The treatment of Feng-syndrome in TCM frequently focused on the wind syndromes caused by the strong hot, the hyperactivity of Yang, the Yin deficiency and the blood deficiency, but the Feng syndrome rarely deals with Yang deficiency. In this paper, we puts forward the Feng syndromes also caused by Yang deficiency and briefly discusses on it in the theory, the type of diseases and the syndrome differentiation, and then, to break down the syndrome differentiating keys with some clinical cases.%中医论风证的辨证治疗,向来仅注重火热、阳亢、阴虚、血虚等引起的风证,绝少论及阳虚动风。本文从阳虚生风的理论、病证类型、辨证要点等方面简要论述了阳虚阴盛同样引起动风证,并例举临床病例以详解辨证关键。

  6. [Severe deglutition disorders and iron deficiency; Plummer-Vinson syndrome].

    Science.gov (United States)

    Geerlings, S E; Statius van Eps, L W

    1991-11-01

    At oesophagogastroscopy a web was seen in the upper oesophagus in a female of 73 years with dysphagia. Because she also had a smooth tongue, a low serum iron level and anaemia, the syndrome of Plummer-Vinson was diagnosed. After treatment with ferrous fumarate the dysphagia, the web and the anaemia disappeared and the serum iron rose. The symptomatology of this syndrome is discussed. Remarkably, the pathogenesis is not completely known. There are indications that this uncommon syndrome is a premalignant disorder.

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

    Science.gov (United States)

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

    2017-06-01

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

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

    Science.gov (United States)

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

    2013-12-01

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

  9. Adipokines in the HIV/HAART-associated lipodystrophy syndrome.

    Science.gov (United States)

    Paruthi, Jason; Gill, Natasha; Mantzoros, Christos S

    2013-09-01

    The use of highly active antiretroviral therapy (HAART) in the treatment of human immunodeficiency virus has dramatically altered both the landscape of this disease and the prognosis for those affected. With more patients now receiving HAART, adverse effects such as lipodystrophy and metabolic syndrome have emerged. In HIV/HAART-associated lipodystrophy syndrome (HALS), patients demonstrate fat maldistribution with dyslipidemia, insulin resistance, and other metabolic complications. Recent studies have contributed to the elucidation of the pathophysiological abnormalities seen in this syndrome and have provided guidance for the study and use of potential treatments for these patients, but widely accepted guidelines have not yet been established. Two adipokines, leptin and adiponectin, are decreased in patients with HALS and lipoatrophy or lipodystrophy. Further, recent proof-of-concept clinical trials have proven the efficacy of leptin replacement and medications that increase circulating adiponectin levels in improving the metabolic profile of HALS patients. This review article highlights recent evidence on leptin replacement and compares leptin's efficacy to that of other treatments, including metformin and thiazolidinediones, on metabolic abnormalities such as impaired insulin-glucose homeostasis associated with lipodystrophy in patients receiving HAART. It is hoped that forthcoming large phase III clinical trials will allow the addition of leptin to our therapeutic armamentarium for use in patients suffering from this disease state.

  10. Anaemia and iron deficiency in peri-urban school children born in a National HIV Prevention Programme in Zimbabwe: A cross-sectional study.

    Science.gov (United States)

    Kuona, P; Mashavave, G; Kandawasvika, G Q; Mapingure, M P; Masanganise, M; Chandiwanda, P; Munjoma, M; Nathog, K J; Stray-Pedersen, B

    2014-01-01

    To determine the prevalence of anaemia, iron deficiency and iron deficiency anaemia in school children who were born in a national HIV prevention programme. This was a community based cross-sectional study. A resource poor peri-urban setting with high prevalence of HIV infection. School aged children six to 10 years old who were born in a national mother-to-child HIV prevention programme. Haemoglobin (Hb), serum Ferritin (F) and serum Transferrin receptor (sTfR) levels. Three hundred and eighteen children were recruited including 21 HIV positive. The prevalence of anaemia (Hb iron deficiency (Firon deficiency anaemia (Hb 8.3 μg/L) were 15%, 4% and 2% respectively. When a higher cut-off for ferritin of 30 micrograms per litre was applied to adjust for high infection disease burden, iron deficiency prevalence increased to 32% and iron deficiency anaemia increased to 5%. Anaemia was 4.9 (C.I 1.9-12.4) times more likely to occur in HIV infected children compared to the HIV uninfected children. Maternal HIV status at birth was not related to presence of anaemia in the school children. Anaemia was of mild public health significance in this cohort of children. Iron deficiency anaemia contributed less than a quarter of the cases of anaemia. HIV infection was an important determinant for presence of anaemia. Therefore continued efforts to eliminate paediatric HIV infection as a way of reducing anaemia in children are essential.

  11. Acute bilateral useless hand syndrome: a rare presenting manifestation of vitamin B12 deficiency.

    Science.gov (United States)

    Biyani, Sumant; Jha, Sneh Kumar; Pandey, Suchit; Shukla, Rakesh

    2015-10-16

    We report a case of bilateral useless hand syndrome, a rare presenting manifestation of vitamin B12 deficiency. A 38-year-old man, a strict vegetarian and a teacher by occupation, presented with acute onset clumsiness of both hands while performing fine movements. Detailed history-taking, examination of the patient and relevant investigations (complete blood count, serum vitamin B12 and MRI of the cervical spinal cord) were carried out. Laboratory analysis was suggestive of vitamin B12 deficiency and MRI demonstrated a lesion involving the posterior columns of the cervical cord. The patient was diagnosed as a case of non-compressive cervical myelopathy predominantly involving the posterior column due to vitamin B12 deficiency. Acute bilateral useless hand syndrome can be a rare presenting feature of vitamin B12 deficiency.

  12. The effect of cholecalciferol supplementation on vitamin D levels and insulin sensitivity is dose related in vitamin D-deficient HIV-1-infected patients.

    NARCIS (Netherlands)

    Beukel, CJ van den Bout-va; Bos, M.; Oyen, W.J.G.; Hermus, A.R.M.M.; Sweep, F.C.; Tack, C.J.J.; Bosch, M.E.; Burger, D.M.; Koopmans, P.P.; Ven, A.J.A.M. van der

    2008-01-01

    OBJECTIVE: The aim of this study was to explore the effects of cholecalciferol supplementation on vitamin D levels, bone mineral density (BMD), body fat distribution and insulin sensitivity in vitamin D-deficient HIV-1-infected patients. METHODS: Twenty vitamin D-deficient HIV-1-infected patients we

  13. Role of mannose-binding lectin deficiency in HIV-1 and schistosoma infections in a rural adult population in Zimbabwe.

    Directory of Open Access Journals (Sweden)

    Rutendo B L Zinyama-Gutsire

    Full Text Available Polymorphism in the MBL2 gene lead to MBL deficiency, which has been shown to increase susceptibility to various bacterial, viral and parasitic infections. We assessed role of MBL deficiency in HIV-1 and schistosoma infections in Zimbabwean adults enrolled in the Mupfure Schistosomiasis and HIV Cohort (MUSH Cohort.HIV-1, S. haematobium and S. mansoni infections were determined at baseline. Plasma MBL concentration was measured by ELISA and MBL2 genotypes determined by PCR. We calculated and compared the proportions of plasma MBL deficiency, MBL2 structural variant alleles B (codon 54A>G, C (codon 57A>G, and D (codon 52T>C as well as MBL2 promoter variants -550(H/L, -221(X/Y and +4(P/Q between HIV-1 and schistosoma co-infection and control groups using Chi Square test.We assessed 379 adults, 80% females, median age (IQR 30 (17-41 years. HIV-1, S. haematobium and S. mansoni prevalence were 26%, 43% and 18% respectively in the MUSH baseline survey. Median (IQR plasma MBL concentration was 800μg/L (192-1936μg/L. Prevalence of plasma MBL deficiency was 18% with high frequency of the C (codon 57G>A mutant allele (20%. There was no significant difference in median plasma MBL levels between HIV negative (912μg/L and HIV positive (688μg/L, p = 0.066. However plasma MBL levels at the assay detection limit of 20μg/L were more frequent among the HIV-1 infected (p = 0.007. S. haematobium and S. mansoni infected participants had significantly higher MBL levels than uninfected. All MBL2 variants were not associated with HIV-1 infection but promoter variants LY and LL were significantly associated with S. haematobium infection.Our data indicate high prevalence of MBL deficiency, no evidence of association between MBL deficiency and HIV-1 infection. However, lower plasma MBL levels were protective against both S. haematobium and S. mansoni infections and MBL2 promoter and variants LY and LL increased susceptibility to S. haematobium infection.

  14. Taurine deficiency and MELAS are closely related syndromes.

    Science.gov (United States)

    Schaffer, Stephen W; Jong, Chian Ju; Warner, Danielle; Ito, Takashi; Azuma, Junichi

    2013-01-01

    MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) is a mitochondrial disease caused by one or more mutations of tRNA(Leu(UUR)). These mutations reduce both the aminoacylation of tRNA(Leu(UUR)) and a posttranslational modification in the wobble position of tRNA(Leu(UUR)). Both changes result in reduced transcription of mitochondria-encoded proteins; however, reduced aminoacylation affects the decoding of both UUG and UUA while the wobble defect specifically diminishes UUG decoding. Because 12 out of the 13 mitochondria-encoded proteins are more dependent on UUA decoding than UUG decoding, the aminoacylation defect should have a more profound effect on protein synthesis than the wobble defect, which more specifically alters the expression of one mitochondria-encoded protein, ND6. Taurine serves as a substrate in the formation of 5-taurinomethyluridine-tRNA(Leu(UUR)); therefore, taurine deficiency should mimic 5-taurinomethyluridine-tRNA(Leu(UUR)) deficiency. Hence, the wobble hypothesis predicts that the symptoms of MELAS mimic those of taurine deficiency, provided that the dominant defect in MELAS is wobble modification deficiency. On the other hand, if the aminoacylation defect dominates, significant differences should exist between taurine deficiency and MELAS. The present review tests this hypothesis by comparing the symptoms of MELAS and taurine deficiency.

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

    Directory of Open Access Journals (Sweden)

    Mrinal Gupta

    2016-01-01

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

  16. Charles Bonnet syndrome and vitamin B12 deficiency: a case report.

    Science.gov (United States)

    Bourgeois, Valérie; Desbordes, Marie; Follet, Mathieu; Haouzir, Sadeq; Guillin, Olivier

    2010-01-01

    The Charles Bonnet syndrome (CBS) is a condition associated with complex visual hallucinations occurring in the elderly in patients with visual impairment and normal mental health. Here, we report the case of a 78-year-old woman who has a limited visual acuity with a CBS that we postulated to be in relationship to a vitamin B12 deficiency. This case is the first report of vitamin B12 deficiency-associated CBS.

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

    Science.gov (United States)

    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.

  18. HIV and Young Male Street Prostitutes: A Brief Report.

    Science.gov (United States)

    Simon, Patricia M.; And Others

    1994-01-01

    Examined human immunodeficiency virus (HIV) seroprevalence data for young male street prostitutes. Examined sociodemographic characteristics, substance use patterns, HIV-related risk behaviors, and Acquired Immune Deficiency Syndrome knowledge as potential correlates to HIV status. Findings suggest that adolescent male prostitutes are exposed to…

  19. Eye Complications of Acquired Immune Deficiency Syndrome (AIDS ...

    African Journals Online (AJOL)

    Skoludek_R

    HIV associated eye disease now occurs in 50-90% of patients at one point in the course ... Although no population studies have been conducted to .... It affects skin, mucus membrane, internal organs and lymph nodes. Ocular Kaposi Sarcoma (figure 2) presents on the lid or ... many hours in the sun working on farms or other.

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

    Science.gov (United States)

    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.

  1. Anti-thrombin III, Protein C, and Protein S deficiency in acute coronary syndrome

    Directory of Open Access Journals (Sweden)

    Dasnan Ismail

    2002-06-01

    Full Text Available The final most common pathway for the majority of coronary artery disease is occlusion of a coronary vessel. Under normal conditions, antithrombin III (AT III, protein C, and protein S as an active protein C cofactor, are natural anticoagulants (hemostatic control that balances procoagulant activity (thrombin antithrombin complex balance to prevent thrombosis. If the condition becomes unbalanced, natural anticoagulants and the procoagulants can lead to thrombosis. Thirty subjects with acute coronary syndrome (ACS were studied for the incidence of antithrombin III (AT III, protein C, and protein S deficiencies, and the result were compare to the control group. Among patients with ACS, the frequency of distribution of AT-III with activity < 75% were 23,3% (7 of 30, and only 6,7% ( 2 of 30 in control subject. No one of the 30 control subject have protein C activity deficient, in ACS with activity < 70% were 13,3% (4 of 30. Fifteen out of the 30 (50% control subjects had protein S activity deficiency, while protein S deficiency activity < 70% was found 73.3.% (22 out of 30. On linear regression, the deterministic coefficient of AT-III activity deficiency to the development ACS was 13,25 %, and the deterministic coefficient of protein C activity deficient to the development of ACS was 9,06 %. The cut-off point for AT-III without protein S deficiency expected to contribute to the development of vessel disease was 45%. On discriminant analysis, protein C activity deficiency posed a risk for ACS of 4,5 greater than non deficient subjects, and AT-III activity deficiency posed a risk for ACS of 3,5 times greater than non deficient subjects. On binary logistic regression, protein S activity acted only as a reinforcing factor of AT-III activity deficiency in the development of ACS. Protein C and AT III deficiency can trigger ACS, with determinant coefficients of 9,06% and 13,25% respectively. Low levels of protein C posed a greater risk of

  2. Paradoxical Mycobacterium tuberculosis meningitis immune reconstitution inflammatory syndrome in an HIV-infected child.

    Science.gov (United States)

    Kalk, Emma; Technau, Karl; Hendson, Willy; Coovadia, Ashraf

    2013-02-01

    Immune reconstitution inflammatory syndrome occurs in a subset of HIV-infected individuals as the immune system recovers secondary to antiretroviral therapy. An exaggerated and uncontrolled inflammatory response to antigens of viable or nonviable organisms is characteristic, with clinical deterioration despite improvement in laboratory indicators. We describe a fatal case of Mycobacterium tuberculosis meningitis immune reconstitution inflammatory syndrome in an HIV-infected child and review the literature.

  3. The prevalence of metabolic syndrome in Danish patients with HIV infection: the effect of antiretroviral therapy

    DEFF Research Database (Denmark)

    Hansen, Birgitte Rønde; Petersen, J; Haugaard, S B;

    2009-01-01

    OBJECTIVES: The prevalence of metabolic syndrome (MS) in HIV-infected patients on highly active antiretroviral therapy (HAART) is a subject of debate. We investigated the prevalence of MS in a cohort of Danish HIV-infected patients and estimated the effect of the various classes of antiretroviral...

  4. [The role of inositol deficiency in the etiology of polycystic ovary syndrome disorders].

    Science.gov (United States)

    Jakimiuk, Artur J; Szamatowicz, Jacek

    2014-01-01

    Inositol acts as a second messenger in insulin signaling pathway Literature data suggest inositol deficiency in insulin-resistant women with the polycystic ovary syndrome. Supplementation of myo-inisitol decreases insulin resistance as it works as an insulin sensitizing agent. The positive role of myo-inositol in the treatment of polycystic ovary syndrome has been of increased evidence recently The present review presents the effects of myo-inositol on the ovarian, hormonal and metabolic parameters in women with PCOS.

  5. Interleukin-10 Genotype Correlated to Deficiency Syndrome in Hepatitis B Cirrhosis

    Directory of Open Access Journals (Sweden)

    Qing-Ya Li

    2012-01-01

    Full Text Available Traditional Chinese medicine (TCM syndrome is an important basis for TCM diagnosis and treatment. As Child-Pugh classification as well as compensation and decompensation phase in liver cirrhosis, it is also an underlying clinical classification. In this paper, we investigated the correlation between single nucleotide polymorphisms (SNPs of Interleukin-10 (IL-10 and TCM syndromes in patients with hepatitis B cirrhosis (HBC. Samples were obtained from 343 HBC patients in China. Three SNPs of IL-10 (−592A/C, −819C/T, and −1082A/G were detected with polymerase chain-reaction-ligase detection reaction (PCR-LDR. The result showed the SNP-819C/T was significantly correlated with Deficiency syndrome (P=0.031, but none of the 3 loci showed correlation either with Child-Pugh classification and phase in HBC patients. The logistic regression analysis showed that the Excess syndrome was associated with dizzy and spider nevus, and the Deficiency syndrome was associated with dry eyes, aversion to cold, IL-10-819C/T loci, and IL-10-1082A/G loci. The odds ratio (OR value at IL-10-819C/T was 4.022. The research results suggested that IL-10-819C/T locus (TC plus CC genotype is probably a risk factor in the occurrence of Deficiency syndrome in HBC patients.

  6. A Metabolomics Approach to Stratify Patients Diagnosed with Diabetes Mellitus into Excess or Deficiency Syndromes

    Directory of Open Access Journals (Sweden)

    Tao Wu

    2015-01-01

    Full Text Available The prevalence of type 2 diabetes continuously increases globally. The traditional Chinese medicine (TCM can stratify the diabetic patients based on their different TCM syndromes and, thus, allow a personalized treatment. Metabolomics is able to provide metabolite biomarkers for disease subtypes. In this study, we applied a metabolomics approach using an ultraperformance liquid chromatography (UPLC coupled with quadruple-time-of-flight (QTOF mass spectrometry system to characterize the metabolic alterations of different TCM syndromes including excess and deficiency in patients diagnosed with diabetes mellitus (DM. We obtained a snapshot of the distinct metabolic changes of DM patients with different TCM syndromes. DM patients with excess syndrome have higher serum 2-indolecarboxylic acid, hypotaurine, pipecolic acid, and progesterone in comparison to those patients with deficiency syndrome. The excess patients have more oxidative stress as demonstrated by unique metabolite signatures than the deficiency subjects. The results provide an improved understanding of the systemic alteration of metabolites in different syndromes of DM. The identified serum metabolites may be of clinical relevance for subtyping of diabetic patients, leading to a personalized DM treatment.

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

    Science.gov (United States)

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

    2015-04-01

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

  8. Deficiencies

    Data.gov (United States)

    U.S. Department of Health & Human Services — A list of all deficiencies currently listed on Nursing Home Compare, including the nursing home that received the deficiency, the associated inspection date,...

  9. Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.

    OpenAIRE

    MATTHIJS, G; Schollen, E.; van Schaftingen, E; Cassiman, J. J.; Jaeken, J.

    1998-01-01

    Carbohydrate-deficient-glycoprotein syndrome type 1 (CDG1; also known as "Jaeken syndrome") is an autosomal recessive disorder characterized by defective glycosylation. Most patients show a deficiency of phosphomannomutase (PMM), the enzyme that converts mannose 6-phosphate to mannose 1-phosphate in the synthesis of GDP-mannose. The disease is linked to chromosome 16p13, and mutations have recently been identified in the PMM2 gene in CDG1 patients with a PMM deficiency (CDG1A). The availabili...

  10. Role of Mannose-Binding Lectin Deficiency in HIV-1 and Schistosoma Infections in a Rural Adult Population in Zimbabwe

    DEFF Research Database (Denmark)

    Zinyama-Gutsire, Rutendo B L; Chasela, Charles; Madsen, Hans O

    2015-01-01

    BACKGROUND: Polymorphism in the MBL2 gene lead to MBL deficiency, which has been shown to increase susceptibility to various bacterial, viral and parasitic infections. We assessed role of MBL deficiency in HIV-1 and schistosoma infections in Zimbabwean adults enrolled in the Mupfure Schistosomiasis...... and HIV Cohort (MUSH Cohort). METHODS: HIV-1, S. haematobium and S. mansoni infections were determined at baseline. Plasma MBL concentration was measured by ELISA and MBL2 genotypes determined by PCR. We calculated and compared the proportions of plasma MBL deficiency, MBL2 structural variant alleles B...... (codon 54A>G), C (codon 57A>G), and D (codon 52T>C) as well as MBL2 promoter variants -550(H/L), -221(X/Y) and +4(P/Q) between HIV-1 and schistosoma co-infection and control groups using Chi Square test. RESULTS: We assessed 379 adults, 80% females, median age (IQR) 30 (17-41) years. HIV-1, S...

  11. Glucose transporter-1 deficiency syndrome: The expanding clinical and genetic spectrum of a treatable disorder

    NARCIS (Netherlands)

    W.G. Leen (Wilhelmina); J. Klepper (Joerg); M.M. Verbeek (Marcel); M. Leferink (Maike); T. Hofste (Tom); B.G.M. van Engelen (Baziel); R.A. Wevers (Ron); T. Arthur (Todd); N. Bahi-Buisson (Nadia); D. Ballhausen (Diana); J. Bekhof (Jolita); P. van Bogaert (Patrick); I. Carrilho (Inês); B. Chabrol (Brigitte); M.P. Champion (Michael); J. Coldwell (James); P. Clayton (Peter); E. Donner (Elizabeth); A. Evangeliou (Athanasios); F. Ebinger (Friedrich); K. Farrell (Kevin); R.J. Forsyth (Rob); C.G.E.L. de Goede (Christian); S. Gross (Stephanie); S. Grünewald (Sonja); H. Holthausen (Hans); S. Jayawant (Sandeep); K. Lachlan (Katherine); V. Laugel (Vincent); K. Leppig (Kathy); M.J. Lim (Ming); G.M.S. Mancini (Grazia); A.D. Marina; L. Martorell (Loreto); J. McMenamin (Joe); M.E.C. Meuwissen (Marije); H. Mundy (Helen); N.O. Nilsson (Nils); A. Panzer (Axel); B.T. Poll-The; C. Rauscher (Christian); C.M.R. Rouselle (Christophe); I. Sandvig (Inger); T. Scheffner (Thomas); E. Sheridan (Eamonn); N. Simpson (Neil); P. Sykora (Parol); R. Tomlinson (Richard); J. Trounce (John); D.W.M. Webb (David); B. Weschke (Bernhard); H. Scheffer (Hans); M.A. Willemsen (Michél)

    2010-01-01

    textabstractGlucose transporter-1 deficiency syndrome is caused by mutations in the SLC2A1 gene in the majority of patients and results in impaired glucose transport into the brain. From 2004-2008, 132 requests for mutational analysis of the SLC2A1 gene were studied by automated Sanger sequencing an

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

    Science.gov (United States)

    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…

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

    Science.gov (United States)

    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…

  14. Posterior fossa syndrome in a patient with an ornithine transcarbamylase deficiency

    NARCIS (Netherlands)

    Nedermeijer, S. C M; Van Den Hout, J.; Geleijns, C.; De Klerk, H.; Catsman-Berrevoets, C. E.

    2015-01-01

    The posterior fossa syndrome (PFS) is a well-known clinical entity and mainly occurs in children. Ornithine transcarbamylase deficiency (OTC) is the most common urea cycle disorder, which occurs in an estimated 1 per 50.000 live births in Japan. Symptoms are mostly due to hyperammonemia and include

  15. Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome

    NARCIS (Netherlands)

    Willemsen, M.A.A.P.; Vissers, L.E.L.M.; Verbeek, M.M.; Bon, B.W.M. van; Geuer, S.; Gilissen, C.F.; Klepper, J.; Kwint, M.P.; Leen, W.G.; Pennings, M.; Wevers, R.A.; Veltman, J.A.; Kamsteeg, E.J.

    2017-01-01

    Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a neurometabolic disorder with a complex phenotypic spectrum but simple biomarkers in cerebrospinal fluid. The disorder is caused by impaired glucose transport into the brain resulting from variants in SCL2A1. In 10% of GLUT1DS patients, a

  16. Cerebrospinal Fluid Analysis in the Workup of GLUT1 Deficiency Syndrome: A Systematic Review

    NARCIS (Netherlands)

    Leen, W.G.; Wevers, R.A.; Kamsteeg, E.J.; Scheffer, H.; Verbeek, M.M.; Willemsen, Marjolein

    2013-01-01

    IMPORTANCE GLUT1 deficiency syndrome is a treatable neurometabolic disorder, characterized by a low concentration of glucose in cerebrospinal fluid (CSF) and a decreased CSF to blood glucose ratio. Reports of patients with apparently normal CSF glucose levels, however, have raised the question wheth

  17. GLUT1 deficiency syndrome into adulthood: a follow-up study

    NARCIS (Netherlands)

    Leen, W.G.; Taher, M.; Verbeek, M.M.; Kamsteeg, E.J.; Warrenburg, B.P.C. van de; Willemsen, M.A.

    2014-01-01

    GLUT1 deficiency syndrome (GLUT1DS) is a treatable neurometabolic disorder in which glucose transport into the brain is disturbed. Besides the classic phenotype of intellectual disability, epilepsy, and movement disorders, other phenotypes are increasingly recognized. These include, for example, idi

  18. Glucose transporter-1 (GLUT1) deficiency syndrome: diagnosis and treatment in late childhood.

    NARCIS (Netherlands)

    Gramer, G.; Wolf, N.I.; Vater, D.; Bast, T.; Santer, R.; Kamsteeg, E.J.; Wevers, R.A.; Ebinger, F.

    2012-01-01

    BACKGROUND: Typical cases of glucose transporter-1 deficiency syndrome (GLUT1-DS) present with early-onset epilepsy. We report symptoms, diagnostic results, and effects of therapy in two patients diagnosed with GLUT1-DS at the age of 10 and 15 years, respectively. PATIENTS: Patient 1: After four cer

  19. TSP-1 Deficiency Alters Ocular Microbiota: Implications for Sjögren's Syndrome Pathogenesis

    OpenAIRE

    Terzulli, Marielle; Ruiz, Laura Contreras; Kugadas, Abirami; Masli, Sharmila; Gadjeva, Mihaela

    2015-01-01

    Purpose: The potential role of commensals as triggering factors that promote inflammation in dry eye disease has not been explored. The objective of this study was to evaluate whether ocular microbiota changes with the onset of dry eye disease in thrombospondin-1-deficient (TSP-1−/−) mice, a strain that develops Sjögren's syndrome-like disease.

  20. Movement disorders in GLUT1 deficiency syndrome respond to the modified Atkins diet

    NARCIS (Netherlands)

    Leen, W.G.; Mewasingh, L.; Verbeek, M.M.; Kamsteeg, E.J.; Warrenburg, B.P.C. van de; Willemsen, M.A.A.P.

    2013-01-01

    BACKGROUND: Movement disorders are a prominent feature of glucose transporter-1 (GLUT1) deficiency syndrome (GLUT1DS). First-choice treatment is a ketogenic diet, but compliance is poor. We have investigated the effect of the modified Atkins diet as an alternative treatment for movement disorders in

  1. Glucose transporter-1 (GLUT1) deficiency syndrome: diagnosis and treatment in late childhood.

    NARCIS (Netherlands)

    Gramer, G.; Wolf, N.I.; Vater, D.; Bast, T.; Santer, R.; Kamsteeg, E.J.; Wevers, R.A.; Ebinger, F.

    2012-01-01

    BACKGROUND: Typical cases of glucose transporter-1 deficiency syndrome (GLUT1-DS) present with early-onset epilepsy. We report symptoms, diagnostic results, and effects of therapy in two patients diagnosed with GLUT1-DS at the age of 10 and 15 years, respectively. PATIENTS: Patient 1: After four cer

  2. Movement disorders in GLUT1 deficiency syndrome respond to the modified Atkins diet

    NARCIS (Netherlands)

    Leen, W.G.; Mewasingh, L.; Verbeek, M.M.; Kamsteeg, E.J.; Warrenburg, B.P.C. van de; Willemsen, M.A.A.P.

    2013-01-01

    BACKGROUND: Movement disorders are a prominent feature of glucose transporter-1 (GLUT1) deficiency syndrome (GLUT1DS). First-choice treatment is a ketogenic diet, but compliance is poor. We have investigated the effect of the modified Atkins diet as an alternative treatment for movement disorders in

  3. Glucose transporter-1 deficiency syndrome : the expanding clinical and genetic spectrum of a treatable disorder

    NARCIS (Netherlands)

    Leen, Wilhelmina G.; Klepper, Joerg; Verbeek, Marcel M.; Leferink, Maike; Hofste, Tom; van Engelen, Baziel G.; Wevers, Ron A.; Arthur, Todd; Bahi-Buisson, Nadia; Ballhausen, Diana; Bekhof, Jolita; van Bogaert, Patrick; Carrilho, Ines; Chabrol, Brigitte; Champion, Michael P.; Coldwell, James; Clayton, Peter; Donner, Elizabeth; Evangeliou, Athanasios; Ebinger, Friedrich; Farrell, Kevin; Forsyth, Rob J.; de Goede, Christian G. E. L.; Gross, Stephanie; Grunewald, Stephanie; Holthausen, Hans; Jayawant, Sandeep; Lachlan, Katherine; Laugel, Vincent; Leppig, Kathy; Lim, Ming J.; Mancini, Grazia; Della Marina, Adela; Martorell, Loreto; McMenamin, Joe; Meuwissen, Marije E. C.; Mundy, Helen; Nilsson, Nils O.; Panzer, Axel; Poll-The, Bwee T.; Rauscher, Christian; Rouselle, Christophe M. R.; Sandvig, Inger; Scheffner, Thomas; Sheridan, Eamonn; Simpson, Neil; Sykora, Parol; Tomlinson, Richard; Trounce, John; Webb, David; Weschke, Bernhard; Scheffer, Hans; Willemsen, Michel A.

    2010-01-01

    Glucose transporter-1 deficiency syndrome is caused by mutations in the SLC2A1 gene in the majority of patients and results in impaired glucose transport into the brain. From 2004-2008, 132 requests for mutational analysis of the SLC2A1 gene were studied by automated Sanger sequencing and multiplex

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

    Science.gov (United States)

    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…

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

    Science.gov (United States)

    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…

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

    Science.gov (United States)

    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…

  7. Posterior fossa syndrome in a patient with an ornithine transcarbamylase deficiency

    NARCIS (Netherlands)

    Nedermeijer, S. C M; Van Den Hout, J.; Geleijns, C.; De Klerk, H.; Catsman-Berrevoets, C. E.

    2015-01-01

    The posterior fossa syndrome (PFS) is a well-known clinical entity and mainly occurs in children. Ornithine transcarbamylase deficiency (OTC) is the most common urea cycle disorder, which occurs in an estimated 1 per 50.000 live births in Japan. Symptoms are mostly due to hyperammonemia and include

  8. Glucose transporter-1 (GLUT1) deficiency syndrome: diagnosis and treatment in late childhood.

    NARCIS (Netherlands)

    Gramer, G.; Wolf, N.I.; Vater, D.; Bast, T.; Santer, R.; Kamsteeg, E.J.; Wevers, R.A.; Ebinger, F.

    2012-01-01

    BACKGROUND: Typical cases of glucose transporter-1 deficiency syndrome (GLUT1-DS) present with early-onset epilepsy. We report symptoms, diagnostic results, and effects of therapy in two patients diagnosed with GLUT1-DS at the age of 10 and 15 years, respectively. PATIENTS: Patient 1: After four

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

    Science.gov (United States)

    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. Beyond the cardiorenal anaemia syndrome : recognizing the role of iron deficiency

    NARCIS (Netherlands)

    Macdougall, Iain C.; Canaud, Bernard; de Francisco, Angel L. M.; Filippatos, Gerasimos; Ponikowski, Piotr; Silverberg, Donald; van Veldhuisen, Dirk J.; Anker, Stefan D.

    2012-01-01

    Growing awareness that heart failure, renal impairment, and anaemia are frequent co-morbidities which can exacerbate one another in a vicious circle of clinical deterioration has led to the concept of the cardiorenal anaemia syndrome (CRAS). The role of iron deficiency within this complex interplay

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

    Directory of Open Access Journals (Sweden)

    A. Berio

    2013-06-01

    Full Text Available 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.

  12. Micronutrient deficiency and treatment adherence in a randomized controlled trial of micronutrient supplementation in ART-naive persons with HIV.

    Directory of Open Access Journals (Sweden)

    Louise Balfour

    Full Text Available INTRODUCTION: The MAINTAIN study is an on-going RCT comparing high-dose micronutrient and anti-oxidant supplementation versus recommended daily allowance (RDA vitamins in slowing HIV immune deficiency progression in ART-naïve people with HIV infection. OBJECTIVE: We planned analysis of the first 127 participants to determine the baseline prevalence of serum micronutrient deficiencies and correlates, as well as tolerance and adherence to study interventions. METHODS: Participants receive eight capsules twice daily of 1 high-dose or 2 RDA supplements for two years and are followed-up quarterly for measures of immune deficiency progression, safety and tolerability. Regression analysis was used to identify correlates of micronutrient levels at baseline. Adherence was measured by residual pill count, self-report using the General Treatment Scale (GTS and short-term recall HIV Adherence Treatment Scale (HATS. RESULTS: Prior micronutrient supplementation (within 30 days was 27% at screening and 10% of study population, and was not correlated with baseline micronutrient levels. Low levels were frequent for carotene (24%80% in 75% of participants. CONCLUSION: Micronutrient levels in asymptomatic HIV+ persons are in keeping with population norms, but micronutrient deficiencies are frequent. Adherence levels are high, and will permit a valid evaluation of treatment effects. TRIAL REGISTRATION: ClinicalTrials.gov NCT00798772.

  13. Cerebral infarction in an HIV-infected patient with combined protein S and C deficiency and a patent foramen ovale.

    Science.gov (United States)

    Tomomasa, Ran; Yamashiro, Kazuo; Tanaka, Ryota; Hattori, Nobutaka

    2013-11-01

    A 41-year-old male with a history of human immunodeficiency virus (HIV) infection developed motor aphasia, dysarthria, and right hemiparesis. A magnetic resonance imaging scan of the brain revealed a cerebral infarction in the territory of the left middle cerebral artery. The laboratory data showed decreased levels of protein S and protein C. Transesophageal contrast-enhanced echocardiography revealed a patent foramen ovale (PFO). Prothrombotic states, such as protein S and C deficiency, have been reported in HIV-infected patients. In addition, previous studies have reported prothrombotic states to be risk factors for PFO-related cerebral infarction. An association between combined protein S and C deficiency caused by HIV infection and PFO-related cerebral infarction was suggested in our patient.

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

    Directory of Open Access Journals (Sweden)

    Muyesser Sayki Arslan

    2015-01-01

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

  15. Intervention effect of traditional Chinese medicine Yi Tang Kang on metabolic syndrome of spleen deficiency

    Institute of Scientific and Technical Information of China (English)

    Xiao-Xi Liu; Yan Shi

    2015-01-01

    Objective:To investigate effects of herbal compoundYiTangKang on the spleen deficiency metabolic syndrome.Methods:Forty maleWistar rats were randomly divided into two groups: the normal control group and theMS spleen deficiency syndrome group.The control group rats were fed with standard diet and water, whileMS spleen deficiency syndrome group with high fat diet and low dose intraperitoneal injection ofstreptozocin, which swam to the endurance limit. After12 weeks, theMS spleen deficiency syndrome group was randomly divided into two groups, with13 rats in each group.Rats in model group were fed with high fat diet and continuouly administered with daily saline, and rats in intervention group with high fat diet were trated with traditionalChinese medicinesYiTangKang by gavage,2 mL/200 g at the same time every day.10 weeks later, the expression of serum proteomics was investigated through abdominal aortic puncture and separation of serum, using isotope labeling technique, high performance liquid chromatography and four bar-Orbitrap mass spectrometer.Results:After treatment with traditionalChinese medicine yitangkang, in the model group, important carboxylesterase and retinal guanylatecyclase2 precursor were upregulated.As for intervention group, these indesxes were raised, but immunoglobulinIgG, carnitine acetyltransferase, tubulin beta -5, andGanLu sugar binding proteinC were down-regulated.At the same time, some new biological active substances, such as protein tyrosine kinase, beta glucosidase were also found.Conclusions:TraditionalChinese medicinesYiTangKang could regulate glucose and lipid metabolism in rats with spleen deficiency syndrome.

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

    Science.gov (United States)

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

    2014-01-01

    The so-called «testosterone deficiency syndrome» is a blend of nonspecific symptoms typical of the physiological process of aging. This syndrome has been the subject of intense promotional activity that has presented the phenomenon as highly prevalent and with a major public health impact. This strategy has been accompanied by the emergence of new and easy to administer testosterone devices into the pharmaceutical market and has generated significant sales for drug companies. The commercial promotion of testosterone deficiency syndrome and its remedies has exploited cultural stereotypes of aging and sexuality through awareness campaigns promoted by the laboratories involved and has been disseminated by media with the participation of numerous experts and with the support of scientific associations, representing a paradigmatic case of disease mongering. This example might be of use in the response to disease mongering activities from the clinical and public health fields. Copyright © 2013 SESPAS. Published by Elsevier Espana. All rights reserved.

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

    Directory of Open Access Journals (Sweden)

    Annio Posar

    2014-01-01

    Full Text Available 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.

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

    Science.gov (United States)

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

    2013-01-01

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

  19. Osteomyelitis in leukocyte adhesion deficiency type 1 syndrome

    DEFF Research Database (Denmark)

    Jabbari Azad, Farahzad; Ardalan, Maryam; H.Rafati, Ali;

    2010-01-01

    Leukocyte adhesion deficiency type 1 (LAD-1) is a rare, inherited immunodeficiency that affects one per million people yearly and usually presents with recurrent, indolent bacterial infections of the skin, mouth, and respiratory tract and impaired pus formation and wound healing. A 13-year-old gi......(10.60%). A plain radiography of the left leg revealed osteomyelitis. It is highly suggested that patients diagnosed mild to moderate LAD-1 with recurrent skin infection and simultaneous weak response to conventional therapy undergo (BMT) marrow transplant to prohibit subsequent life...

  20. Osteomyelitis in leukocyte adhesion deficiency type 1 syndrome

    DEFF Research Database (Denmark)

    Jabbari Azad, Farahzad; Ardalan, Maryam; H.Rafati, Ali

    2010-01-01

    Leukocyte adhesion deficiency type 1 (LAD-1) is a rare, inherited immunodeficiency that affects one per million people yearly and usually presents with recurrent, indolent bacterial infections of the skin, mouth, and respiratory tract and impaired pus formation and wound healing. A 13-year-old girl......(10.60%). A plain radiography of the left leg revealed osteomyelitis. It is highly suggested that patients diagnosed mild to moderate LAD-1 with recurrent skin infection and simultaneous weak response to conventional therapy undergo (BMT) marrow transplant to prohibit subsequent life...

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

    Science.gov (United States)

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

    1993-01-01

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

  2. Effects of vitamin A deficiency and opioids on parvalbumin + interneurons in the hippocampus of the HIV-1 transgenic rat.

    Science.gov (United States)

    Guo, Ming; Bryant, Joseph; Sultana, Shireen; Jones, Odell; Royal, Walter

    2012-07-01

    Opioid use in HIV infection has been associated with an increased frequency of neurological disease and cognitive impairment and vitamin A deficiency has been linked to progressive HIV disease in drug users. In this report the potential effects of these factors, alone and in combination, on gamma amino butyric acid (GABA)-expression interneurons in hippocampus in the HIV-1 transgenic rat (TG) model were studied. TG and wild-type (WT) F344 Fisher rats deficient in vitamin A from birth were implanted either with a 37.5 mg morphine tablet or with a matching placebo and total numbers of neurons and of parvalbumin+ neurons were quantitated and parvalbumin expression was quantitated in the CA1 hippocampal region of the rats. These studies showed that total neuronal numbers were decreased in the TG versus WT Fisher rats and that this decrease was enhanced by the vitamin A deficient diet and by treatment with morphine. In contrast, there was no significant change noted in numbers of parvalbumin+ neurons. However, levels of parvalbumin expression were decreased for vitamin A deficient and morphine-treated WT rats as compared to WT rats on the normal diet and placebo-treated WT rats. For TG rats, parvalbumin expression was higher for vitamin A deficient TG rats treated with either placebo or morphine than for WT vitamin A deficient rats treated with placebo, and placebo treated vitamin A deficient TG rats showed higher expression than morphine treated vitamin A deficient rats. Expression was also higher for vitamin A deficient morphine-treated rats than for the corresponding WT rat groups and for vitamin A deficient TG rats treated with placebo. For the remaining groups, parvalbumin was similar for the TG and WT rats. These findings suggest that in hippocampus vitamin A deficiency and morphine can increase parvalbumin expression, perhaps as a manifestation of a stress response. Parvalbumin-expressing GABA-ergic interneurons regulate the primary neuronal output from

  3. Post-natal anaemia and iron deficiency in HIV-infected women and the health and survival of their children.

    Science.gov (United States)

    Isanaka, Sheila; Spiegelman, Donna; Aboud, Said; Manji, Karim P; Msamanga, Gernard I; Willet, Walter C; Duggan, Christopher; Fawzi, Wafaie W

    2012-07-01

    Prenatal iron supplementation may improve pregnancy outcomes and decrease the risk of child mortality. However, little is known about the importance of post-natal maternal iron status for child health and survival, particularly in the context of HIV infection. We examined the association of maternal anaemia and hypochromic microcytosis, an erythrocyte morphology consistent with iron deficiency, with child health and survival in the first two to five years of life. Repeated measures of maternal anaemia and hypochromic microcytosis from 840 HIV-positive women enrolled in a clinical trial of vitamin supplementation were prospectively related to child mortality, HIV infection and CD4 T-cell count. Median duration of follow-up for the endpoints of child mortality, HIV infection and CD4 cell count was 58, 17 and 23 months, respectively. Maternal anaemia and hypochromic microcytosis were associated with greater risk of child mortality [hazard ratio (HR) for severe anaemia = 2.58, 95% confidence interval (CI): 1.66-4.01, P trend children (difference in CD4 T-cell count/µL for severe anaemia: -93, 95% CI: -204-17, P trend = 0.02). The potential child health risks associated with maternal anaemia and iron deficiency may not be limited to the prenatal period. Efforts to reduce maternal anaemia and iron deficiency during pregnancy may need to be expanded to include the post-partum period. © 2012 Blackwell Publishing Ltd.

  4. Postnatal anemia and iron deficiency in HIV-infected women and the health and survival of their children

    Science.gov (United States)

    Isanaka, Sheila; Spiegelman, Donna; Aboud, Said; Manji, Karim P.; Msamanga, Gernard I.; Willet, Walter C.; Duggan, Christopher; Fawzi, Wafaie W.

    2011-01-01

    Prenatal iron supplementation may improve pregnancy outcomes and decrease the risk of child mortality. However, little is known about the importance of postnatal maternal iron status for child health and survival, particularly in the context of HIV infection. We examined the association of maternal anemia and hypochromic microcytosis, an erythrocyte morphology consistent with iron deficiency, with child health and survival in the first two to five years of life. Repeated measures of maternal anemia and hypochromic microcytosis from 840 HIV-positive women enrolled in a clinical trial of vitamin supplementation were prospectively related to child mortality, HIV infection, and CD4 T-cell count. Median duration of follow-up for the endpoints of child mortality, HIV infection and CD4 cell count was 58, 17 and 23 months, respectively. Maternal anemia and hypochromic microcytosis were associated with greater risk of child mortality (HR for severe anemia=2.58, 95% CI: 1.66-4.01, P trendchildren (difference in CD4 T-cell count/μL for severe anemia:-93, 95% CI: -204-17, P trend=0.02). The potential child health risks associated with maternal anemia and iron deficiency may not be limited to the prenatal period. Efforts to reduce maternal anemia and iron deficiency during pregnancy may need to be expanded to include the postpartum period. PMID:22236211

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

    Science.gov (United States)

    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.

  6. Lipodystrophy syndrome in HIV-infected children on HAART

    Directory of Open Access Journals (Sweden)

    Steve Innes

    2009-12-01

    Full Text Available Lipodystrophy Syndrome (LD is common in HIV-infected children, particularly in those taking Didanosine, Stavudine, or Zidovudine. Lipoatrophy in particular causes major stigmatization and interferes with adherence. In addition, LD may have significant long-term health consequences, particularly cardiovascular. Since the stigmatizing fat distribution changes of LD are largely permanent, the focus of management remains on early detection and arresting progression. Practical guidelines for surveillance and avoidance of LD in routine clinical practice are presented. Diagnosis of LD is described and therapeutic options are reviewed. The most important therapeutic intervention is to switch the most likely offending antiretroviral to a non-LD-inducing agent as soon as LD is recognised. Typically, where lipoatrophy or lipohypertrophy is diagnosed, the thymidine nucleoside reverse transcriptase inhibitor (NRTI is switched to a non-thymidine agent such as Abacavir (or Tenofovir in adults. Where dyslipidaemia is predominant, a dietician review is helpful, and the clinician may consider switching to a protease inhibitor (PI-sparing regimen or to Atazanavir.

  7. [Bilateral amyotrophic neuralgia (Parsonage Turner syndrome) with HIV seroconversion].

    Science.gov (United States)

    Louis, E; Touzé, E; Piketty, M L; Salmon-Céron, D; Zuber, M

    2003-07-01

    We report a unusual case of neuralgic amyotrophy (NA) occurring during the seroconversion stage of an HIV infection. Combined with previously published cases, our observation suggests that NA associated with HIV could belong to the group of early multiplex mononeuritis. Neurologists should be aware of HIV infection when managing a patient with NA.

  8. HIV/AIDS中医实证与四诊信息的结构方程建模%Structural Equation Modeling of Excess Syndrome and Four Diagnostic Information of HIV/AIDS

    Institute of Scientific and Technical Information of China (English)

    施学忠; 杨永利; 时松和; 谢世平

    2011-01-01

    目的 探讨结构方程模型在西医病名HIV/AIDS中医证候分布规律以及艾滋病中医证候与四诊信息关系方面的应用.方法 采用多阶段分层随机抽样技术,在河南省艾滋病高发区随机抽取1 277例HIV/AIDS进行调查,收集研究对象的中医四诊信息和中医证候指标,采用无序多分类logistic回归分析、多重对应分析和探索性因子分析建立初始理论模型,并应用结构方程模型进行验证.结果 湿热内蕴、湿热蕴毒、邪结皮肤、肝郁气滞是HIV/AIDS的主要实证:结构方程模型拟合指数x2 =985.26,P<0.01,近似误差均方根RMSEA=0.070,非范拟合指数NNFI=0.84:肝郁气滞是HIV携带者的主要实证,邪结皮肤是AIDS患者的主要实证.结论 结构方程模型可以用来验证艾滋病中医证候与四诊信息的内在结构关系,研究不同证型(即隐变量)间的联系和演变规律.%Objective To explore the distribution regularity of syndrome of traditional Chinese medicine and the relationship between syndromes of traditional Chinese medicine and four diagnostic information among HIV/AIDS by structural equation model. Methods 1277 HTV7 AIDS patients were chosen using multistage stratified random sampling technique. Their four diagnostic information and syndrome of Chinese medicine was collected. Multinomial logistic regression,correspondence analysis and exploratory factor analysis were used to set up the original theoretical model,confirmed by structural equation model(SEM) further. Results Syndrome of dampness-heat accumulated interior, syndrome of dampnessheat and accumulated toxin,syndrome of pathogens accumulation involving skin and syndrome of liver and qi stagnation were main excess syndromes of HTV/AIDS. The goodness indexes of SEM, minimum fit function was x2 =985.26,P<0.01. Root mean square error of approximation( RMSEA) =0.070,Non-normed fit index( NNFI) =0.84. Syndrome of deficiency of spleen qi was main syndrome of HIV carriers

  9. Clinical and radiologic review of uncommon cause of profound iron deficiency anemia: Median arcuate ligament syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Gunduz, Yasemin; Asil, Kiyasrttin; Aksoy, Yakup Ersel; Ayhan, Lacin Tatli [Dept. of Radiology, Sakarya University Medical Faculty, Sakarya (Turkmenistan)

    2014-08-15

    Median arcuate ligament syndrome is an anatomic and clinical entity characterized by dynamic compression of the proximal celiac artery by the median arcuate ligament, which leads to postprandial epigastric pain, vomiting, and weight loss. These symptoms are usually nonspecific and are easily misdiagnosed as functional dyspepsia, peptic ulcer disease, or gastropathy. In this report, we presented a 72-year-old male patient with celiac artery compression syndrome causing recurrent abdominal pain associated with gastric ulcer and iron deficiency anemia. This association is relatively uncommon and therefore not well determined. In addition, we reported the CT angiography findings and three-dimensional reconstructions of this rare case.

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

    Science.gov (United States)

    Hassan, Jacob; Barkin, Jack

    2016-02-01

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

  11. Meningitis and stridor in advanced Human immunodeficiency virus/acquired immune deficiency syndrome

    Directory of Open Access Journals (Sweden)

    Naidoo P

    2013-09-01

    Full Text Available P Naidoo, D Pillay, S SamanDepartment of Internal Medicine, Port Shepstone Regional Hospital, University of KwaZulu-Natal, South AfricaAbstract: A 37-year-old female presented confused with a preceding history of severe headache. After clinical examination and investigations, she was diagnosed with disseminated tuberculosis (including central nervous system involvement, and Human immunodeficiency virus/acquired immune deficiency syndrome. Her hospital stay was complicated. She developed stridor and a cerebrovascular accident with left hemiplegia. She died approximately 2 weeks after admission. The potential causes of her stridor included a mediastinal mass or a central mechanism secondary to tuberculosis meningitis. Limited resources precluded definitive imaging of the chest to rule out a mediastinal mass. Further, an autopsy was not done. Despite these limitations, this case is unique because it reports the presence of both stridor and tuberculosis meningitis in an adult patient.Keywords: Human immunodeficiency virus, acquired immune deficiency syndrome, meningitis, stridor, tuberculosis

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

    Directory of Open Access Journals (Sweden)

    Pou Kuan Leong

    2015-01-01

    Full Text Available 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.

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

    Directory of Open Access Journals (Sweden)

    Chatziioannidis Ilias

    2015-01-01

    Full Text Available 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.

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

    Science.gov (United States)

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

    2016-09-01

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

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

    Energy Technology Data Exchange (ETDEWEB)

    Drane, W.E.; Tipler, B.M.

    1987-06-01

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

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

    Science.gov (United States)

    Drane, W E; Tipler, B M

    1987-06-01

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

  17. Meningitis and stridor in advanced Human immunodeficiency virus/acquired immune deficiency syndrome

    OpenAIRE

    Naidoo P; Pillay D; Saman S

    2013-01-01

    P Naidoo, D Pillay, S SamanDepartment of Internal Medicine, Port Shepstone Regional Hospital, University of KwaZulu-Natal, South AfricaAbstract: A 37-year-old female presented confused with a preceding history of severe headache. After clinical examination and investigations, she was diagnosed with disseminated tuberculosis (including central nervous system involvement), and Human immunodeficiency virus/acquired immune deficiency syndrome. Her hospital stay was complicated. She developed stri...

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

    OpenAIRE

    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 opt...

  19. Severe transient ADAMTS13 deficiency in pneumococcal-associated hemolytic uremic syndrome.

    Science.gov (United States)

    Pelras, Sybille; Delmas, Yahsou; Lamireau, Delphine; Villega, Frédéric; Nolent, Paul; Ryman, Anne; Llanas, Brigitte; Brissaud, Olivier; Harambat, Jérôme

    2011-04-01

    Thrombotic microangiopathies comprise different entities, including hemolytic uremic syndrome (HUS), thrombotic thrombocytopenic purpura (TTP), and several other conditions. TTP is characterized by hemolytic anemia, thrombocytopenia, and multiorgan failure. TTP is the result of severe von Willebrand factor multimer cleaving protease (ADAMTS13) deficiency that is either inherited or the result of acquired autoantibodies. We report a critically ill 2-year-old girl with invasive pneumococcal disease associated HUS (p-HUS) whose condition was complicated by severe ADAMTS13 deficiency, without detectable inhibitor, in a context of multiple organ failure. The patient recovered with supportive treatment, and ADAMTS13 activity normalized without plasmatherapy. Severe ADAMTS13 deficiency appears to be a manifestation of transient endothelial cell injury in the context of severe sepsis, including invasive p-HUS. The choice of appropriate therapy should not be based on this finding.

  20. Hypertension Is a Key Feature of the Metabolic Syndrome in Subjects Aging with HIV

    DEFF Research Database (Denmark)

    Martin-Iguacel, Raquel; Negredo, Eugènia; Peck, Robert

    2016-01-01

    to predispose to these metabolic complications and to the excess risk of CVD observed in the HIV population. The metabolic syndrome (MS) represents a clustering of RF for CVD that includes abdominal obesity, hypertension, dyslipidemia and insulin resistance. Hypertension is a prevalent feature of the MS in HIV......With widespread and effective antiretroviral therapy, the life expectancy in the HIV population has dramatically improved over the last two decades. Consequently, as patients are aging with HIV, other age-related comorbidities, such as metabolic disturbances and cardiovascular disease (CVD), have......, in particular in the aging population, and constitutes an important RF for CVD. Physicians should screen their patients for metabolic and cardiovascular risk at the regular visits to reduce MS and the associated CVD risk among people aging with HIV, since many of RF are under-diagnosed and under...

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

    Science.gov (United States)

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

    2017-06-23

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

  2. Small for Gestational Age and Magnesium: Intrauterine magnesium deficiency may induce metabolic syndrome in later life

    Directory of Open Access Journals (Sweden)

    Junji Takaya

    2015-12-01

    Full Text Available Magnesium deficiency during pregnancy as a result of insufficient or low intake of magnesium is common in developing and developed countries. Previous reports have shown that intracellular magnesium of cord blood platelets is lower among small for gestational age (SGA groups than that of appropriate for gestational age (AGA groups, suggesting that intrauterine magnesium deficiency may result in SGA. Additionally, the risk of adult-onset diseases such as insulin resistance syndrome is greater among children whose mothers were malnourished during pregnancy, and who consequently had a low birth weight. In a number of animal models, poor nutrition during pregnancy leads to offspring that exhibit pathophysiological changes similar to human diseases. The offspring of pregnant rats fed a magensium restricted diet have developed hypermethylation in the hepatic 11β-hydroxysteroid dehydrogenase-2 promoter. These findings indicate that maternal magnesium deficiencies during pregnancy influence regulation of non-imprinted genes by altering the epigenetic regulation of gene expression, thereby inducing different metabolic phenotypes. Magnesium deficiency during pregnancy may be responsible for not only maternal and fetal nutritional problems, but also lifelong consequences that affect the offspring throughout their life. Epidemiological, clinical, and basic research on the effects of magnesium deficiency now indicates underlying mechanisms, especially epigenetic processes.

  3. Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents

    DEFF Research Database (Denmark)

    Bodo, Sahra; Colas, Chrystelle; Buhard, Olivier

    2015-01-01

    BACKGROUND & AIMS: Patients with bi-allelic germline mutations in mismatch repair (MMR) genes (MLH1, MSH2, MSH6, or PMS2) develop a rare but severe variant of Lynch syndrome called constitutional MMR deficiency (CMMRD). This syndrome is characterized by early-onset colorectal cancers, lymphomas o...

  4. Vitamin A deficiency during pregnancy of HIV infected and non-infected women in tropical settings of Northwest Ethiopia

    Directory of Open Access Journals (Sweden)

    Bekele Assegedech

    2011-07-01

    Full Text Available Abstract Background Vitamin A deficiency (VAD is known to be a major public health problem among women of reproductive age in South East Asia and Africa. In Ethiopia, there are no studies conducted on serum vitamin A status of HIV-infected pregnant women. Therefore, the present study was aimed at determining the level of serum vitamin A and VAD among pregnant women with and without HIV infection in tropical settings of Northwest Ethiopia. Methods In this cross-sectional study, blood samples were collected from 423 pregnant women and from 55 healthy volunteers who visited the University of Gondar Hospital. Serum concentration of vitamin A was measured by high performance liquid chromatography. Results After controlling for total serum protein, albumin and demographic variables, the mean ± SD serum vitamin A in HIV seropositive pregnant women (0.96 ± 0.42 μmol/L was significantly lower than that in pregnant women without HIV infection (1.10 ± 0.45 μmol/L, P Conclusion The present study shows that VAD is a major public health problem among pregnant women in the tropical settings of Northwest Ethiopia. Considering the possible implications of VAD during pregnancy, we recommend multivitamin (which has a lower level of vitamin A supplementation in the care and management of pregnant women with or without HIV infection.

  5. Epidemiology of children with acquired immune deficiency syndrome (stage 3): A referral hospital-based study in Iran.

    Science.gov (United States)

    Movahedi, Zahra; Mahmoudi, Shima; Pourakbari, Babak; Keshavarz Valian, Nasrin; Sabouni, Farah; Ramezani, Amitis; Bahador, Abbas; Mamishi, Setareh

    2016-01-01

    Lack of recognition of human immunodeficiency virus (HIV) infection especially in children and delayed implementation of effective control programs makes HIV infection as a major cause for concern. Information on HIV epidemiology in Iran as well as other Islamic countries is limited. The aim of our study was to describe the clinical manifestation and laboratory finding of HIV infected children who were admitted to a referral Children Medical Center (CMC) in Tehran, Iran, during 11 years from January 2002 to January 2013. This was a retrospective study carried out over a period of 11 years. The records of all patients attending to the CMC with confirmed acquired immunodeficiency syndrome (AIDS) were screened. The patients were evaluated for social circumstance, family history, age, gender, clinical, and laboratory features. Clinical data including fever, respiratory distress, diarrhea, rash, etc. as well as laboratory tests including complete blood count, serum glucose level, electrolytes, liver function test, cultures, CD4 lymphocyte count were evaluated. During the study period, 32 HIV positive children were enrolled. The majority of patients were presented with weight loss, prolonged fever, respiratory infection and chronic diarrhea. In this study, salmonella infections as well as streptococcal pneumonia and candida infections followed by, tuberculosis and Pseudomonas aeruginosa infections were the predominant opportunistic infections. Since the number of HIV-positive children has been alarmingly increasing in recent years and perinatal transmission is the most common route of HIV infection in children, essential recommendations for prenatal HIV testing as well as appropriate antiretroviral therapy by HIV infected mothers are needed.

  6. Identification of a novel mutation in an Indian patient with CAII deficiency syndrome

    Directory of Open Access Journals (Sweden)

    Shivaprasad C

    2010-01-01

    Full Text Available Carbonic anhydrase II (CAII deficiency syndrome characterized by osteopetrosis (OP, renal tubular acidosis (RTA, and cerebral calcifications is caused by mutations in the carbonic anhydrase 2 (CA2 gene. Severity of this disorder varies depending on the nature of the mutation and its effect on the protein. We present here, the clinical and radiographic details along with, results of mutational analysis of the CA2 gene in an individual clinically diagnosed with renal tubular acidosis, osteopetrosis and mental retardation and his family members to establish genotype-phenotype correlation. A novel homozygous deletion mutation c.251delT was seen in the patient resulting in a frameshift and a premature stop codon at amino acid position 90 generating a truncated protein leading to a complete loss of function and a consequential deficiency of the enzyme making this a pathogenic mutation. Confirmation of clinical diagnosis by molecular methods is essential as the clinical features of the CAII deficiency syndrome are similar to other forms of OP but the treatment modalities are different. Genetic confirmation of the diagnosis at an early age leads to the timely institution of therapy improving the growth potential, reduces other complications like fractures, and aids in providing prenatal testing and genetic counseling to the parents planning a pregnancy.

  7. Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: case report

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    Van Den Oord Joost

    2010-12-01

    Full Text Available Abstract Rothmund-Thomson syndrome (RTS(OMIM 268400 is a rare autosomal recessive genodermatosis characterized by poikiloderma, small stature, skeletal and dental abnormalities, cataract and an increased risk of cancer. It is caused by mutations in RECQL4 at 8q24. Immune deficiency is not described as a classical feature of the disease. Here we report the appearance of granulomatous skin lesions complicating primary Varicella Zoster Virus infection in a toddler with Rothmund Thomson syndrome and immune deficiency. Although granulomatous disorders are sometimes seen after Herpes zoster, they are even more rare after Varicella primary infection. Granulomas have hitherto not been described in Rothmund-Thomson syndrome. With this report we aim to stress the importance of screening for immune deficiency in patients with Rothmund-Thomson syndrome.

  8. Small for Gestational Age and Magnesium in Cord Blood Platelets: Intrauterine Magnesium Deficiency May Induce Metabolic Syndrome in Later Life

    Directory of Open Access Journals (Sweden)

    Junji Takaya

    2011-01-01

    Full Text Available Magnesium deficiency in pregnancy frequently occurs because of inadequate or low intake of magnesium. Magnesium deficiency during pregnancy can induce not only maternal and fetal nutritional problems, but also consequences that might last in offspring throughout life. Many epidemiological studies have disclosed that small for gestational age (SGA is associated with an increased risk of insulin resistance in adult life. We reported that intracellular magnesium of cord blood platelets is lower in SGA groups than that in appropriate for gestational age groups, suggesting that intrauterine magnesium deficiency may result in SGA. Taken together, intrauterine magnesium deficiency in the fetus may lead to or at least program insulin resistance after birth. In this review, we propose that intrauterine magnesium deficiency may induce metabolic syndrome in later life. We discuss the potential contribution of aberrant magnesium regulation to SGA and to the pathogenesis of metabolic syndrome.

  9. Immune reconstitution inflammatory syndrome, human herpesvirus 8 viremia, and HIV-associated multicentric Castleman disease

    Directory of Open Access Journals (Sweden)

    Marc O. Siegel

    2016-07-01

    Full Text Available Kaposi's sarcoma and multicentric Castleman Disease are HIV-related disease processes that are associated with human herpesvirus 8 (HHV-8 infection. The development of multicentric Castleman disease can often be a manifestation of the immune reconstitution inflammatory syndrome phenomenon and is associated with markedly elevated levels of HHV-8 viremia, as illustrated by this case.

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

    Science.gov (United States)

    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

  11. [Cushing syndrome in a HIV patient using inhaled steroids. Report of one case].

    Science.gov (United States)

    Frías, Alondra; Ortiz, Alex; Soto, Miriam; Muñoz, Francisco; Chacón, Carolina

    2016-07-01

    We report a 41-year-old man with HIV and a chronic obstructive pulmonary disease, treated for seven months with Fluticasone/Salmeterol and antiretroviral therapy (Lamivudine, Tenofovir, Atazanavir and Ritonavir). While using these medications, the patients developed a Cushing syndrome in a period of five months. After performing laboratory and imaging tests, it was concluded that the most probable cause of the syndrome was the interaction of inhaled steroids with Ritonavir. After discontinuing these medications the syndrome reverted in a period of 8 months.

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

    Science.gov (United States)

    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). 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.

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

    Science.gov (United States)

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

    2015-01-29

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

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

    Science.gov (United States)

    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

  15. Guillain Barre syndrome in an HIV-1-infected patient after the beginning of combined antiretroviral therapy: an immune reconstitution inflammatory syndrome?

    Science.gov (United States)

    Fantauzzi, Alessandra; Digiulio, Maria Anna; Cavallari, Eugenio Nelson; d'Ettorre, Gabriella; Vullo, Vincenzo; Mezzaroma, Ivano

    2014-01-01

    HIV-1-associated Guillan-Barre syndrome (hGBS) is an ascendant progressive polyradiculoneuropathy described throughout the course of the viral disease, mainly associated with the acute retroviral syndrome. HGBS is occasionally described in severely immunocompromised subjects in the context of the immune reconstitution inflammatory syndrome. The case described occurred soon after the start of a combined antiretroviral treatment in an HIV-1 infected patient with ulcerative colitis in the absence of severe immunosuppression. This manifestation may be interpreted as an uncommon appearance of an immune reconstitution syndrome in the presence of a predisposing autoimmune pathology.

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

    Science.gov (United States)

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

    2003-03-06

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

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

    Science.gov (United States)

    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

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

    Science.gov (United States)

    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.

  19. First Association of Interleukin 12 Receptor Beta 1 Deficiency with Sjögren’s Syndrome

    Directory of Open Access Journals (Sweden)

    Georgios Sogkas

    2017-07-01

    Full Text Available IntroductionInterleukin 12 receptor beta 1 (IL12Rβ1 deficiency is a primary immunodeficiency resulting mainly in susceptibility to opportunistic infection by non-tuberculous, environmental mycobacteria and severe infection caused by Salmonella spp. Till now, less than 300 patients with IL12Rβ1 deficiency have been reported. Among them, only three have been described to develop autoimmunity.Case presentationWe present the case of a 50-year-old male with IL12Rβ1 deficiency due to compound heterozygosity [c. 1623_1624delGCinsTT (pGln542Stop and c.1791 + 2T > C (donor splice site], who—18 months after diagnosis of disseminated BCGitis—presented with recurrent fever and sicca syndrome. No indication of an infectious origin of these symptoms could be found at that point. The diagnosis of a Sjögren’s syndrome (SS was made on the basis of fulfilled American-European consensus classification criteria, including a positive minor salivary gland biopsy.ConclusionApart from persistent antigenic stimulation, which may drive autoimmune inflammation in primary immunodeficiency, evidence on the involvement of interleukin 12 in pathogenesis of SS suggests that the same immunological mechanism may underlie both defense against infection and the maintenance of tolerance. To our knowledge, this is the first report of a case of autoimmunity in the form of SS in a patient with a primary immunodeficiency and one of the rare cases of IL12Rβ1 deficiency with manifested autoimmunity.

  20. [Tenofovir-associated Fanconi's syndrome and rickets in a HIV infected girl].

    Science.gov (United States)

    Zúñiga, Marcela; Galindo, Armando; Galaz, María Isabel; Vivanco, Maritza; Romero, Patricio; Balboa, Paulina; Torrejón, Claudia

    2016-09-09

    Tenofovir (TDF) is an inhibitor of reverse transcriptase nucleotide analogue, although it has good tolerability and high anti-retroviral activity, its effect on the kidney has been a concern. To describe a girl infected with HIV who presented Fanconi syndrome during antiretroviral therapy with TDF. We describe a HIV-1-infected girl, who after 18 months treatment with TDF presented loss of strength and pain of the lower extremities with functional impairment. Laboratory findings were consistent with Fanconi syndrome. Radiographs showed bilateral hip fracture and wrists. Full recovery of Fanconi syndrome was achieved four months after changing antiretroviral therapy. TDF-prescribing physicians must be prepared to detect signs and symptoms of renal dysfunction and immediately consider switching to another antiviral drug. Copyright © 2016 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

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

    Science.gov (United States)

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

    2014-09-01

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

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

    Science.gov (United States)

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

    2009-01-01

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

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

    Science.gov (United States)

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

    2015-09-15

    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.

  4. Carnitine Deficiency and Oxidative Stress Provoke Cardiotoxicity in an Ifosfamide-Induced Fanconi Syndrome Rat Model

    Directory of Open Access Journals (Sweden)

    Mohamed M. Sayed-Ahmed

    2010-01-01

    Full Text Available 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

  5. Comparing the Ability of Anthropometric Indicators in Identifying Metabolic Syndrome in HIV Patients.

    Directory of Open Access Journals (Sweden)

    Rebeca Antunes Beraldo

    Full Text Available Highly active antiretroviral therapy (HAART can cause side effects in HIV patients, as the metabolic syndrome. Early identification of risk for development of cardiovascular diseases using available reliable and practical methods is fundamental. On this basis, the aim of this study was to compare the effectiveness of anthropometric indicators to identify metabolic syndrome in HIV patients on HAART.It is a cross-sectional study. A number of 280 stable HIV patients were studied. It measured weight, height, waist circumference (WC, hip circumference (HP, thigh circumference (TC and calculated body mass index (BMI, body adiposity index (BAI, waist to hip ratio (WHR and waist to thigh ratio (WTR. There was also a performance of biochemical tests of lipid profile and fasting glucose. Systemic blood pressure was measured. The criteria proposed by the National Cholesterol Education Program III (NCEP-ATP III to metabolic syndrome classification was used. Individuals were divided in groups with or without metabolic alterations and their anthropometric indicators were compared. Receiver operating characteristic (ROC curves were designed for each anthropometric indicator using the metabolic syndrome classification to identify sensitivity and specificity.WC was a good tool to identify each metabolic disorder separately: total cholesterol (only females, p<0.05, triglycerides (only males, p<0.001, HDL cholesterol (p<0.05, LDL cholesterol (p<005 and fasting glycemic (p<005. WC also showed the best performance to identify metabolic syndrome in both genders (areas under the curve (AUCs: 0.79 and 0.76 for male and female, respectively, while BAI proved to be an inadequate indicator (AUCs: 0.63 and 0.67 for males and females, respectively, in this population.The central adiposity measure (WC had the best performance to identify metabolic syndrome, and it is a convenient, cheap and reliable tool that can be used in clinical practice routinely to prevent

  6. 不同感染途径艾滋病症、证分布规律的研究%Research on rules of distribution and development of traditional Chinese medicine syndromes of 2 237 HIV/AIDS cases

    Institute of Scientific and Technical Information of China (English)

    王健; 刘颖; 邹雯; 李洪娟; 何丽云; 董继鹏; 岑玉文; 邓鑫; 王莉

    2013-01-01

    HIV/AIDS patients in high prevalence areas with different routes of infection (sexually transmitted 878 cases,527 cases of intravenous drug user,paid blood donor 652 cases) were choosen for traditional Chinese medicine(TCM) syndrome investigation for one-year clinical follow-up.This paper primarily concluded the nature,location and pathogenesis of AIDS diseases.Deficiency of Yang and Yin,combining deficiency of Qi are the basic deficiency syndromes,while stagnation of dampness,toxic fire are the excess syndromes; the disease location of HIV infector is spleen,main syndrome is deficiency of spleen Qi; the disease location of AIDS patient is kidney,main syndrome is deficiency of spleen and kidney Yang.The pathogenic development tendency is from deficiency of Qi to combining stagnation of dampness and toxic fire,finally to deficiency of Qi and Yin,deficiency of Yang.%运用中医学、临床流行病学、统计学的方法,在我国艾滋病流行的主要地区,选择不同感染途径(性传播878例,静脉吸毒527例,有偿供血652例)的HIV/AIDS患者,进行中医证候学调查,对不同感染途径艾滋病症、证分布规律进行为期1年的临床随访,初步总结出不同感染途径艾滋病的病性、病位和病机等特点.3种传播途径主要病性中虚证以气虚、阴虚和阳虚为主;实证中,血液传播以痰湿为主,性传播以气滞为主,静脉吸毒以热(火)毒为主.性传播者以肝肾阴虚、肝郁气滞证为主;静脉吸毒者以气阴两虚、湿热蕴结证为主;采供血者以肝胃不和、脾虚湿盛证为主.

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

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    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.

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

    Science.gov (United States)

    Kussman, Ashleigh; Gohara, Amira

    2012-12-01

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

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

    Science.gov (United States)

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

    2016-12-01

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

  10. Vpu-Deficient HIV Strains Stimulate Innate Immune Signaling Responses in Target Cells

    OpenAIRE

    Doehle, Brian P.; Chang, Kristina; Fleming, Lamar; McNevin, John; Hladik, Florian; McElrath, M. Juliana; Gale, Michael

    2012-01-01

    Acute virus infection induces a cell-intrinsic innate immune response comprising our first line of immunity to limit virus replication and spread, but viruses have developed strategies to overcome these defenses. HIV-1 is a major public health problem; however, the virus-host interactions that regulate innate immune defenses against HIV-1 are not fully defined. We have recently identified the viral protein Vpu to be a key determinant responsible for HIV-1 targeting and degradation of interfer...

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

    Science.gov (United States)

    Jung, Hyun Jin

    2016-01-01

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

  12. A rare outcome of iron deficiency and pica: Rapunzel syndrome in a 5-year-old child iron deficiency and pica.

    Science.gov (United States)

    Islek, Ali; Sayar, Ersin; Yılmaz, Aygen; Boneval, Cem; Artan, Reha

    2014-02-01

    Bezoar is defined as the accumulation of organic or nonbiological substances inside the gastrointestinal system. Trichobezoars are the most frequently detected ones and are mostly present in patients with neuropsychiatric disorders. The continuance of the trichobezoar tail-shaped extension over the duodenum and jejunum is described in Rapunzel syndrome. Both conditions are rarely reported in children. The present case submitted here is related to a 5-year-old girl referred with an abdominal mass and anemia, diagnosed with Rapunzel syndrome and developing trichobezoar due to iron deficiency and pica.

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

    Science.gov (United States)

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

    2013-07-01

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

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

    Science.gov (United States)

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

    2015-05-01

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

  15. Project youth inform--a school-based sexually transmitted disease/acquired immune deficiency syndrome education programme.

    Science.gov (United States)

    Soon, T; Chan, R K; Goh, C L

    1995-07-01

    A pilot project, ¿Youth Inform¿ endorsed by the Ministry of Health and Ministry of Education, Singapore, was undertaken in 1992 for 2 years. It aims to enhance sexually transmitted disease (STDs)/human immunodeficiency virus (HIV) control in Singapore by providing structured information for young people between the ages of 16 to 20 years in Polytechnics, Junior Colleges, Centralised Institutes and Pre-University Centres. Project Youth Inform comprises 8 components. They include a focus group discussion, a training seminar for teachers, a lecture/slide presentation cum question-and-answer session, an educational booklet/bookmark, exhibitions, a video, provisions for anonymous questions, and an evaluation. The programme is conducted during school hours at the premises of the institutions and the attendance per session is between 150 to 350 students. A total of 152 sessions have been completed for all the schools. It is ongoing and is currently administered by the School Health Service and Training and Health Education Department. Feedback from principals, teachers and students was gathered formally through surveys and informally through interviews and observations. One thousand students were randomly selected for the survey to assess their responses towards the programme. Eighty-six percent reported that they found it educational and informative. Indicators found to have an influence on the effectiveness of the programme were timing, vocabulary used (medical terms) and integration of the programme into the school's curriculum. In conclusion, Project Youth Inform was on the whole positively received. However, it is essential to constantly accommodate and adapt to new facts and methods of teaching and maintain close coordination with the Ministries and the schools. An effective STD/acquired immune deficiency syndrome programme is an important step towards the prevention, management and control of the epidemic.

  16. Clinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome

    Directory of Open Access Journals (Sweden)

    Buchanan DD

    2014-10-01

    Full Text Available Daniel D Buchanan,1,2 Christophe Rosty,1,3,4 Mark Clendenning,1 Amanda B Spurdle,5 Aung Ko Win2 1Oncogenomics Group, Genetic Epidemiology Laboratory, Department of Pathology, The University of Melbourne, Parkville, VIC, Australia; 2Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, VIC, Australia; 3Envoi Specialist Pathologists, Herston, QLD, Australia; 4School of Medicine, University of Queensland, Herston, QLD, Australia; 5Molecular Cancer Epidemiology Laboratory, Genetics and Computational Biology Division, QIMR Berghofer Medical Research Institute, Herston, QLD, AustraliaAbstract: Carriers of a germline mutation in one of the DNA mismatch repair (MMR genes have a high risk of developing numerous different cancers, predominantly colorectal cancer and endometrial cancer (known as Lynch syndrome. MMR gene mutation carriers develop tumors with MMR deficiency identified by tumor microsatellite instability or immunohistochemical loss of MMR protein expression. Tumor MMR deficiency is used to identify individuals most likely to carry an MMR gene mutation. However, MMR deficiency can also result from somatic inactivation, most commonly methylation of the MLH1 gene promoter. As tumor MMR testing of all incident colorectal and endometrial cancers (universal screening is becoming increasingly adopted, a growing clinical problem is emerging for individuals who have tumors that show MMR deficiency who are subsequently found not to carry an MMR gene mutation after genetic testing using the current diagnostic approaches (Sanger sequencing and multiplex ligation-dependent probe amplification and who also show no evidence of MLH1 methylation. The inability to determine the underlying cause of tumor MMR deficiency in these "Lynch-like" or "suspected Lynch syndrome" cases has significant implications on the clinical management of these individuals and their relatives. When the

  17. A case of juvenile idiopathic polyarticular arthritis complicated by IgA deficiency in 22q11 deletion syndrome.

    Science.gov (United States)

    Sato, Satoshi; Kawashima, Hisashi; Suzuki, Kazunori; Nagao, Ryuhei; Tsuyuki, Kazumitsu; Hoshika, Akinori

    2011-08-01

    Chronic arthritis may occur in association with antibody deficiency and chromosomal aberrations. This report presents the case of a 6-year-old girl with chromosome 22q11 deletion syndrome and chronic arthritis. The onset of arthritis occurred at 4 years of age. The chronic arthritis course has been the polyarticular type. Neither antinuclear antibody nor rheumatoid factor was detected. Serum IgA was extremely low. She was diagnosed with juvenile idiopathic polyarticular arthritis (JIA) complicated by IgA deficiency in the 22q11 deletion syndrome. There is an increased prevalence of chronic arthritis in association with 22q11 deletion syndrome with IgA deficiency, but the reasons for this association are unknown. This study evaluated the possible correlation between cytokines and the susceptibility to chronic arthritis in the 22q11 deletion syndrome with IgA deficiency. The expression of pro-inflammatory cytokines such as IL-8, IL-6, MIP-1β, and MCP-1 suggests that T and B cells, macrophages and neutrophils modulate joint inflammation by an immune response. And the presence of IL-10 and IL-5 might suggest that the synovitis is associated with JIA and IgA deficiency.

  18. Correlation Study of PtfV1 with Heart-Qi Deficiency Syndrome in Patients with Hypertensive Left Ventricular Hypertrophy

    Institute of Scientific and Technical Information of China (English)

    杨传华; 陆峰

    2002-01-01

    @@ It is generally believed that the change of p-wave terminal force in lead V1 (PtfV1) is associated with the inner diameter of left atrium, left ventricular compliance,and ventricular diastolic function. The increase of negative value of PtfV1 in essential hypertensive (EH) patients with left ventricular hypertrophy (LVH) indicates the cardiac function may be damaged. In order to explore the relationship between Heart-Qi Deficiency Syndrome (HQDS) of TCM and PtfV1 level in hypertensive LVH patients, correlation analysis of scores of Heart-Qi Deficiency Syndrome and negative value of PtfV1 was made by the authors.

  19. Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair

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    Akarsu Nurten

    2010-05-01

    Full Text Available Abstract Background Genomic imbalances constitute a major cause of congenital and developmental abnormalities. GLUT1 deficiency syndrome is caused by various de novo mutations in the facilitated human glucose transporter 1 gene (1p34.2 and patients with this syndrome have been diagnosed with hypoglycorrhachia, mental and developmental delay, microcephaly and seizures. Furthermore, 1q terminal deletions have been submitted in the recent reports and the absence of corpus callosum has been related to the deletion between C1orf100 and C1orf121 in 1q44. Results This study reports on a sibling pair with developmental delay, mental retardation, microcephaly, hypotonia, epilepsy, facial dysmorphism, ataxia and impaired speech. Chromosome analysis revealed a derivative chromosome 1 in both patients. FISH and MCB analysis showed two interstitial deletions at 1p34.2 and 1q44. SNP array and array-CGH analysis also determined the sizes of deletions detailed. The deleted region on 1p34.2 encompasses 33 genes, among which is GLUT1 gene (SLC2A1. However, the deleted region on 1q44 includes 59 genes and distal-proximal breakpoints were located in the ZNF672 gene and SMYD3 gene, respectively. Conclusion Haploinsufficiency of GLUT1 leads to GLUT1 deficiency syndrome, consistent with the phenotype in patients of this study. Conversely, in the deleted region on 1q44, none of the genes are related to findings in these patients. Additionally, the results confirm previous reports on that corpus callosal development may depend on the critical gene(s lying in 1q44 proximal to the SMYD3 gene.

  20. Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies

    OpenAIRE

    Brue, Thierry; Quentien, Marie-Hélène; Khetchoumian, Konstantin; Bensa, Marco; Capo-Chichi, José-Mario; Delemer, Brigitte; Balsalobre, Aurelio; Nassif, Christina; Papadimitriou, Dimitris T; Pagnier, Anne; Hasselmann, Caroline; Patry, Lysanne; Schwartzentruber, Jeremy; Souchon, Pierre-François; Takayasu, Shinobu

    2014-01-01

    Background DAVID syndrome is a rare condition combining anterior pituitary hormone deficiency with common variable immunodeficiency. NFKB2 mutations have recently been identified in patients with ACTH and variable immunodeficiency. A similar mutation was previously found in Nfkb2 in the immunodeficient Lym1 mouse strain, but the effect of the mutation on endocrine function was not evaluated. Methods We ascertained six unrelated DAVID syndrome families. We performed whole exome and traditional...

  1. Predictive genetic testing in children: constitutional mismatch repair deficiency cancer predisposing syndrome.

    Science.gov (United States)

    Bruwer, Zandrè; Algar, Ursula; Vorster, Alvera; Fieggen, Karen; Davidson, Alan; Goldberg, Paul; Wainwright, Helen; Ramesar, Rajkumar

    2014-04-01

    Biallelic germline mutations in mismatch repair genes predispose to constitutional mismatch repair deficiency syndrome (CMMR-D). The condition is characterized by a broad spectrum of early-onset tumors, including hematological, brain and bowel and is frequently associated with features of Neurofibromatosis type 1. Few definitive screening recommendations have been suggested and no published reports have described predictive testing. We report on the first case of predictive testing for CMMR-D following the identification of two non-consanguineous parents, with the same heterozygous mutation in MLH1: c.1528C > T. The genetic counseling offered to the family, for their two at-risk daughters, is discussed with a focus on the ethical considerations of testing children for known cancer-causing variants. The challenges that are encountered when reporting on heterozygosity in a child younger than 18 years (disclosure of carrier status and risk for Lynch syndrome), when discovered during testing for homozygosity, are addressed. In addition, the identification of CMMR-D in a three year old, and the recommended clinical surveillance that was proposed for this individual is discussed. Despite predictive testing and presymptomatic screening, the sudden death of the child with CMMR-D syndrome occurred 6 months after her last surveillance MRI. This report further highlights the difficulty of developing guidelines, as a result of the rarity of cases and diversity of presentation.

  2. Syphilitic meningitis in HIV-patients with meningeal syndrome: report of two cases and review

    Directory of Open Access Journals (Sweden)

    Carmo Ricardo Andrade

    2001-01-01

    Full Text Available Few patients with symptomatic neurosyphilis present with signs and symptoms of acute meningitis. Here we report two cases of syphilitic meningitis diagnosed in HIV patients with meningeal syndrome. The first case, a 30-year-old black bisexual male, had concurrent meningeal and ocular syphilis with persistent unusually low CSF glucose levels. He responded well to 21 days of intravenous penicillin therapy. The second case was a 55-year-old female with epilepsy, depression, behavioral disorder and confusion. The diagnosis of HIV infection was made after onset of the syphilitic meningitis. She was treated with 21 days i.v. penicillin with improvement in her clinical condition. The clinical aspects of combined neurosyphilis and HIV infection, plus special features of diagnosis and treatment are discussed.

  3. Immune Reconstitution Syndrome secondary to Rhodococcus equi infection in a patient with HIV and Burkitt's lymphoma.

    Science.gov (United States)

    Darraj, Majid; Fainstein, Rachel; Kasper, Ken; Keynan, Yoav

    Immune Reconstitution Syndrome (IRIS) has been associated with a variety of infections in patients with human immunodeficiency virus (HIV). However, we are reporting the first case of IRIS secondary to Rhodococcus equi (R. equi) in a patient with HIV. We report the case of a 48-year-old male found to have HIV infection in the setting of Burkitt's lymphoma. While on anti-retroviral therapy and chemotherapy, he had developed IRIS secondary to R. equi that manifested as a cavitating pneumonia. This report outlines the successful management of the R. equi infection with the use of a combination of antibiotics, radiographic follow up and suppressive antibiotic while on chemotherapy. Copyright © 2016 King Saud Bin Abdulaziz University for Health Sciences. Published by Elsevier Ltd. All rights reserved.

  4. Increased Cardiovascular Disease Risk In The HIV-Positive Population on ART: Potential Role of HIV-Nef and Tat

    OpenAIRE

    Wang, Ting; Yi, Ru; Green, Linden Ann; Chelvanambi, Sarvesh; Seimetz, Michael; Clauss, Matthias

    2015-01-01

    With effective antiretroviral therapy (ART), many HIV-infected people die of diseases other than acquired immune deficiency syndrome (AIDS). In particular, coronary artery disease has emerged as one of most critical complications of HIV infection and a major cause of morbidity and mortality. Although reportedly antiretroviral combination therapy itself may accelerate atherosclerosis by enhancing dyslipidemia, most recent epidemiological studies support the notion that HIV infection itself con...

  5. Syphilitic meningitis in HIV-patients with meningeal syndrome: report of two cases and review

    OpenAIRE

    2001-01-01

    Few patients with symptomatic neurosyphilis present with signs and symptoms of acute meningitis. Here we report two cases of syphilitic meningitis diagnosed in HIV patients with meningeal syndrome. The first case, a 30-year-old black bisexual male, had concurrent meningeal and ocular syphilis with persistent unusually low CSF glucose levels. He responded well to 21 days of intravenous penicillin therapy. The second case was a 55-year-old female with epilepsy, depression, behavioral disorder a...

  6. COPPER AND MAGNESIUM DEFICIENCIES IN PATIENTS WITH SHORT BOWEL SYNDROME RECEIVING PARENTERAL NUTRITION OR ORAL FEEDING

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    Camila Bitu Moreno BRAGA

    2015-06-01

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

  7. Respiratory Failure Associated with the Lipodystrophy Syndrome in an HIV-Positive Patient with Compromised Lung Function

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    Natasha Press

    2001-01-01

    Full Text Available Protease inhibitors, used as treatment in human immunodeficiency virus (HIV infection, are associated with a syndrome of peripheral lipodystrophy, central adiposity, hyperlipidemia and insulin resistance. An HIV-positive patient with chronic obstructive pulmonary disease is presented who developed the lipodystrophy syndrome that is associated with the use of protease inhibitors. It is postulated that the lipodystrophy syndrome further compromised his lung function, leading to respiratory failure. Patients who have pulmonary disease and are taking protease inhibitors require monitoring of clinical status and pulmonary function tests.

  8. Deficiency in N-acetylgalactosamine-6-sulfate sulfatase results in collagen perturbations in cartilage of Morquio syndrome A patients

    NARCIS (Netherlands)

    Bank, R.A.; Groener, J.E.M.; van Gemund, J.J.; Maaswinkel, P.D.; Hoeben, K.A.; Schut, H.A.; Everts, V.

    2009-01-01

    Aim: To investigate extracellular matrix (ECM) characteristics of cortical bone and articular cartilage of patients with Morquio syndrome A, a lysosomal storage disease caused by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase. Patients and methods: Cartilage, bone, and fibroblasts from 2

  9. Deficiency of acyl-CoA: Dihydroxyacetone phosphate acyltransferase in patients with Zellweger (cerebro-hepato-renal) syndrome

    NARCIS (Netherlands)

    Bosch, H. van den; Schutgens, R.B.H.; Romeyn, G.J.; Wanders, R.J.A.; Schrakamp, G.; Heymans, H.S.A.

    1984-01-01

    We have recently reported on plasmalogen deficiency in tissues and fibroblasts from patients with Zellweger syndrome. In this paper we have analyzed the activity of the first enzyme in the pathway leading to plasmalogen biosynthesis, i.e. acyl-CoA: dihydroxyacetone phosphate acyltransferase in

  10. Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome

    DEFF Research Database (Denmark)

    Ostergaard, Elsebet; Rodenburg, Richard J; van den Brand, Mariël;

    2011-01-01

    This study investigated a girl with Leigh syndrome born to first-cousin parents of Pakistani descent with an isolated respiratory chain complex I deficiency in muscle and fibroblasts. Her early development was delayed, and from age 2 years she started losing motor abilities. Cerebral MRI showed...

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

    Science.gov (United States)

    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.…

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

    Science.gov (United States)

    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;…

  13. Deficiency of acyl-CoA: Dihydroxyacetone phosphate acyltransferase in patients with Zellweger (cerebro-hepato-renal) syndrome

    NARCIS (Netherlands)

    Bosch, H. van den; Schutgens, R.B.H.; Romeyn, G.J.; Wanders, R.J.A.; Schrakamp, G.; Heymans, H.S.A.

    1984-01-01

    We have recently reported on plasmalogen deficiency in tissues and fibroblasts from patients with Zellweger syndrome. In this paper we have analyzed the activity of the first enzyme in the pathway leading to plasmalogen biosynthesis, i.e. acyl-CoA: dihydroxyacetone phosphate acyltransferase in liver

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

    Science.gov (United States)

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

    2015-12-13

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

  15. The Bloom syndrome protein limits the lethality associated with RAD51 deficiency.

    Science.gov (United States)

    Lahkim Bennani-Belhaj, Kenza; Rouzeau, Sébastien; Buhagiar-Labarchède, Géraldine; Chabosseau, Pauline; Onclercq-Delic, Rosine; Bayart, Emilie; Cordelières, Fabrice; Couturier, Jérôme; Amor-Guéret, Mounira

    2010-03-01

    Little is known about the functional interaction between the Bloom's syndrome protein (BLM) and the recombinase RAD51 within cells. Using RNA interference technology, we provide the first demonstration that RAD51 acts upstream from BLM to prevent anaphase bridge formation. RAD51 downregulation was associated with an increase in the frequency of BLM-positive anaphase bridges, but not of BLM-associated ultrafine bridges. Time-lapse live microscopy analysis of anaphase bridge cells revealed that BLM promoted cell survival in the absence of Rad51. Our results directly implicate BLM in limiting the lethality associated with RAD51 deficiency through the processing of anaphase bridges resulting from the RAD51 defect. These findings provide insight into the molecular basis of some cancers possibly associated with variants of the RAD51 gene family.

  16. Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome.

    Science.gov (United States)

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

    2017-06-01

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

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

    Science.gov (United States)

    Grugni, Graziano; Marzullo, Paolo

    2016-12-01

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

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

    Science.gov (United States)

    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 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 between pain and vitamin D

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

    Science.gov (United States)

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

    2013-01-01

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

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

    Science.gov (United States)

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

    2010-09-01

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

  1. Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency.

    Science.gov (United States)

    Péquignot, M O; Dey, R; Zeviani, M; Tiranti, V; Godinot, C; Poyau, A; Sue, C; Di Mauro, S; Abitbol, M; Marsac, C

    2001-05-01

    Cytochrome c oxidase (COX) deficiency is one of the major causes of Leigh Syndrome (LS), a fatal encephalopathy of infancy or childhood, characterized by symmetrical lesions in the basal ganglia and brainstem. Mutations in the nuclear genes encoding COX subunits have not been found in patients with LS and COX deficiency, but mutations have been identified in SURF1. SURF1 encodes a factor involved in COX biogenesis. To date, 30 different mutations have been reported in 40 unrelated patients. We aim to provide an overview of all known mutations in SURF1, and to propose a common nomenclature. Twelve of the mutations were insertion/deletion mutations in exons 1, 4, 6, 8, and 9; 10 were missense/nonsense mutations in exons 2, 4, 5, 7, and 8; and eight were detected at splicing sites in introns 3 to 7. The most frequent mutation was 312_321del 311_312insAT which was found in 12 patients out of 40. Twenty mutations have been described only once. We also list all polymorphisms discovered to date.

  2. Mismatch repair-deficient crypt foci in Lynch syndrome--molecular alterations and association with clinical parameters.

    Directory of Open Access Journals (Sweden)

    Laura Staffa

    Full Text Available Lynch syndrome is caused by germline mutations of DNA mismatch repair (MMR genes, most frequently MLH1 and MSH2. Recently, MMR-deficient crypt foci (MMR-DCF have been identified as a novel lesion which occurs at high frequency in the intestinal mucosa from Lynch syndrome mutation carriers, but very rarely progress to cancer. To shed light on molecular alterations and clinical associations of MMR-DCF, we systematically searched the intestinal mucosa from Lynch syndrome patients for MMR-DCF by immunohistochemistry. The identified lesions were characterised for alterations in microsatellite-bearing genes with proven or suspected role in malignant transformation. We demonstrate that the prevalence of MMR-DCF (mean 0.84 MMR-DCF per 1 cm2 mucosa in the colorectum of Lynch syndrome patients was significantly associated with patients' age, but not with patients' gender. No MMR-DCF were detectable in the mucosa of patients with sporadic MSI-H colorectal cancer (n = 12. Microsatellite instability of at least one tested marker was detected in 89% of the MMR-DCF examined, indicating an immediate onset of microsatellite instability after MMR gene inactivation. Coding microsatellite mutations were most frequent in the genes HT001 (ASTE1 with 33%, followed by AIM2 (17% and BAX (10%. Though MMR deficiency alone appears to be insufficient for malignant transformation, it leads to measurable microsatellite instability even in single MMR-deficient crypts. Our data indicate for the first time that the frequency of MMR-DCF increases with patients' age. Similar patterns of coding microsatellite instability in MMR-DCF and MMR-deficient cancers suggest that certain combinations of coding microsatellite mutations, including mutations of the HT001, AIM2 and BAX gene, may contribute to the progression of MMR-deficient lesions into MMR-deficient cancers.

  3. Prediabetes is associated with an increased risk of testosterone deficiency, independent of obesity and metabolic syndrome.

    Directory of Open Access Journals (Sweden)

    Chen-Hsun Ho

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

  4. High Density Lipoprotein Phospholipids as a Marker of Coronary Heart Disease of Shen-Yang Deficiency Syndrome

    Institute of Scientific and Technical Information of China (English)

    GUO Ping-qing (郭平清); LIN Qiu-cheng (林求诚); GUO Yin-geng (郭银庚); SHEN Zong-guo (沈宗国)

    2003-01-01

    Objective: To seek a new biochemical index for diagnosis of coronary heart disease (CHD)of shen-Yang deficiency syndrom (CHD-SYD). Methods: Sixty-one patients with CHD were divided into 3 groups according to their TCM Syndrome type, 10 patients in the group without Xin-Qi deficiency (Group A), 25 in the group with Xin-Qi deficiency but without Shen-Yang deficiency (Group B) and 26 in the group both with Xin-Qi deficiency and Shen-Yang deficiency (Group C). Levels of 17-hydroxy-corticosteroid in urine (urinary 17-OHCS) per 24 hrs, and serum level of high density lipoprotein cholesterol (HDL-C) and high density lipoprotein phospholipid (HDL-PL) in them were determined in synchrostep and compared with those in the control group of 23 healthy aged persons. urinary 17-OHCS per 24 hrs was taken as the diagnostic standard to screen a new index for diagnosis of Shen-Yang deficiency Syndrome, and preliminary appraisal to the index was made. Results: Serum HDL-PL in the CHD-SYD patients( Group C) was 616±157 mg/L, which was obviously lower than that in the patients of Group A and B. With low HDL-PL (<650 mg/L) used as the index to diagnose CHD-SYD, the sensitivity was 73%, the specificity 86% and the accuracy 80%. Conclusion: HDL-PL <650 mg/L could be adopted as an index for CHD-SYD diagnosis, which is simple and practical.

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

    Science.gov (United States)

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

    2012-12-07

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

  6. Impaired telomere maintenance in Alazami syndrome patients with LARP7 deficiency

    Directory of Open Access Journals (Sweden)

    Brody Holohan

    2016-10-01

    Full Text Available Abstract Background Loss of function in genes required for telomere maintenance result in disorders known as telomeropathies, which are characterized by a pattern of symptoms including generalized and specific lymphocytopenias as well as very short telomere length and disease anticipation. Methods Because human LARP7 is the most likely ortholog of the Tetrahymena p65 protein, which is required for telomerase activity in that organism, we investigated the effects of LARP7 silencing in human cells as well as in two distinct families with Alazami syndrome (loss of function of LARP7. Results Depletion of LARP7 caused a reduction in telomerase enzymatic activity and progressively shorter telomeres in human cancer cell lines. Alazami syndrome patients from two separate cohorts exhibited very short lymphocyte telomeres. Further, wild-type offspring of LARP7 mutant individuals also had very short telomeres, comparable to what is observed in telomerase (hTERT mutant cohorts. Conclusions Together, these experiments demonstrate that in addition to the readily apparent developmental disorder associated with LARP7 deficiency, an underlying telomeropathy exists even in unaffected siblings of these individuals.

  7. Managing pregnancy with HIV, HELLP syndrome and low platelets.

    Science.gov (United States)

    Onyangunga, O A; Moodley, J

    2012-02-01

    Management of pregnancies with human immunodeficiency virus, haemolytic anaemia, elevated liver enzymes, low platelets (HELLP) syndrome, and low platelets presents complexities in investigations and treatments, because these conditions and their treatment affect the mother and baby. Low platelets in severe pre-eclampsia, eclampsia and HELLP syndrome are relatively common, and should be detected early once the diagnosis of pre-eclampsia, HELLP syndrome, or both, are made. The mainstay of treatment is lowering of high blood pressure with rapid-acting antihypertensive agents, prevention of convulsions or further seizures with MgSO(4), use of steroids for fetal lung maturity if necessary, followed by delivery of the baby. The use of high-dose steroids for the rapid recovery of maternal platelet counts is controversial, and should not be used routinely in women with HELLP syndrome. The use of platelet transfusion in women with severe pre-eclampsia, eclampsia and HELLP syndrome is a temporising measure, and should only be justified if the clinical circumstances warrant their use (e.g. before caesarean section when the woman has a low platelet count with evidence of bruising or bleeding from venepuncture sites). Low platelets may be an isolated finding in asymptomatic pregnant women and warrant the offer of a human immunodeficiency virus test, as it may be the first sign of this infection. Isolated low platelets may also indicate gestational thrombocytopaenia or idiothrombocytopaenic purpura. Gestational thrombocytopaenia is a benign condition and a diagnosis of exclusion. All clinicians should be aware that low platelets warrant further investigations because of the above-mentioned issues.

  8. Human immune deficiency virus (HIV) infection during pregnancy at Gadarif hospital, Eastern Sudan.

    Science.gov (United States)

    Adam, Gamal K; Ahmed, Mohammed Ahmed A; Ali, AbdelAziem A

    2016-10-01

    This was a prospective study conducted on all pregnant and parturient women attending Gadarif Maternity Hospital, Sudan from January 2009 to December 2013 to investigate the maternal characteristics, pregnancy outcomes and estimate of maternal to child transmission of HIV among HIV infected women. During the study period, there were 26 HIV positive mothers among 6420 tested women yielding an incidence rate of 0.4%. The majority of these 26 infected women were of urban residence (69.2%), presented with normal CD4+ T cell count; ? 350\\cu. mm3 (96.2%), had less than secondary education (57.7%) and housewives (84.6%). The mean age (SD) was significantly varied between the sero-positive and sero-negative women, 25.9 (5.7) vs. 36.1 (5.7), p = <0.001. More proportion of infected women had maternal anaemia and gave preterm birth, and none of the newborn babies was HIV infected until the age of 96 weeks. It is thus HIV infected women in eastern Sudan were young and likely desire more children.

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

    Science.gov (United States)

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

    2009-06-01

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

  10. Higher Risk Myelodysplastic Syndromes in Patients with Well-Controlled HIV Infection: Clinical Features, Treatment, and Outcome

    Directory of Open Access Journals (Sweden)

    Bradley T. Williamson

    2016-01-01

    Full Text Available Introduction. In advanced HIV prior to combination antiretroviral therapy (ART, dysplastic marrow changes occurred and resolved with ART. Few reports of myelodysplastic syndromes (MDS in well-controlled HIV exist and management is undefined. Methods. Patients with well-controlled HIV and higher risk MDS were identified; characteristics, treatment, and outcomes were reviewed. Results. Of 292 MDS patients since 1996, 1 (0.3% was HIV-positive. A 56-year-old woman presented with cytopenias. CD4 was 1310 cells/mL and HIV viral load <40 copies/mL. Bone marrow biopsy showed RCMD and karyotype included del(5q and del(7q; IPSS was intermediate-2 risk. She received azacitidine at 75% dose. Cycle 2, at full dose, was complicated by marrow aplasia and possible AML; she elected palliation. Three additional HIV patients with higher risk MDS, aged 56–64, were identified from the literature. All had deletions involving chromosomes 5 and 7. MDS treatment of 2 was not reported and one received palliation; all died of AML. Conclusion. Four higher risk MDS in well-controlled HIV were below the median age of diagnosis for HIV-negative patients; all had adverse karyotype. This is the first report of an HIV patient receiving MDS treatment with azacitidine. Cytopenias were profound and dosing in HIV patients should be considered with caution.

  11. High-dose vitamin D3 reduces deficiency caused by low UVB exposure and limits HIV-1 replication in urban Southern Africans

    Science.gov (United States)

    Coussens, Anna K.; Naude, Celeste E.; Goliath, Rene; Chaplin, George; Wilkinson, Robert J.; Jablonski, Nina G.

    2015-06-01

    Cape Town, South Africa, has a seasonal pattern of UVB radiation and a predominantly dark-skinned urban population who suffer high HIV-1 prevalence. This coexistent environmental and phenotypic scenario puts residents at risk for vitamin D deficiency, which may potentiate HIV-1 disease progression. We conducted a longitudinal study in two ethnically distinct groups of healthy young adults in Cape Town, supplemented with vitamin D3 in winter, to determine whether vitamin D status modifies the response to HIV-1 infection and to identify the major determinants of vitamin D status (UVB exposure, diet, pigmentation, and genetics). Vitamin D deficiency was observed in the majority of subjects in winter and in a proportion of individuals in summer, was highly correlated with UVB exposure, and was associated with greater HIV-1 replication in peripheral blood cells. High-dosage oral vitamin D3 supplementation attenuated HIV-1 replication, increased circulating leukocytes, and reversed winter-associated anemia. Vitamin D3 therefore presents as a low-cost supplementation to improve HIV-associated immunity.

  12. A rare cause of congenital adrenal hyperplasia : Antley-Bixler syndrome due to POR deficiency

    NARCIS (Netherlands)

    Herkert, J. C.; Blaauwwiekel, E. E.; Hoek, A.; Veenstra-Knol, H. E.; Kema, I. P.; Arlt, W.; Kerstens, M. N.

    Cytochrome P(450) oxidoreductase (POR) deficiency is a recently discovered new variant of congenital adrenal hyperplasia. Distinctive features of POR deficiency are the presence of disorders of sexual development in both sexes, glucocorticoid deficiency and skeletal malformations similar to those

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

    Science.gov (United States)

    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…

  14. [Unusual venous thrombosis revealing a human immunodeficiency virus infection and a protein S deficiency. Two cases and literature review].

    Science.gov (United States)

    Konin, C; Adoh, M; Adoubi, A; Anzouan-Kacou, J B; Azagoh, R; N'guetta, R; Kramoh, E; Séka, R

    2008-06-01

    The authors report two cases of unusual venous thrombosis associated with protein S deficiency in patients with the acquired immunodeficiency syndrome. The first case was a superior mesenteric vein thrombosis caused by HIV-1 infection associated with protein S deficiency in a 53-year-old patient. The second case was a cerebral venous thrombosis in a 34-year-old patient with HIV-1 and HIV-2 infections associated with protein S deficiency. None of the two patients were receiving antiretroviral therapy at the time of diagnosis. The evolution of thrombosis was favorable in both patients with heparin therapy and antivitamin K (AVK).

  15. Diagnosis and Treatment of Cerebral Salt Wasting Syndrome With Cryptococcal Meningitis in HIV Patient.

    Science.gov (United States)

    Lee, Sunggeun; Collado, Anitsira; Singla, Montish; Carbajal, Roger; Chaudhari, Ashok; Baumstein, Donald

    2016-01-01

    Hyponatremia is one of the most common electrolyte imbalances in HIV patients. The differential diagnosis may include hypovolemic hyponatremia, syndrome of inappropriate antidiuretic hormone secretion (SIADH), and adrenal insufficiency. Here, we describe a case of hyponatremia secondary to cerebral salt wasting syndrome (CSWS) in an HIV patient with cryptococcal meningitis. A 52-year-old man with a history of diabetes and HIV was admitted for headache and found to have cryptococcal meningitis. He was also found to have asymptomatic hyponatremia. He had signs of hypovolemia, such as orthostatic hypotension, dry mucosa, decreased skin turgor, hemoconcentration, contraction alkalosis, and high BUN/Cr ratio. The laboratory findings revealed sodium of 125 mmol/L, potassium of 5.5 mmol/L, urine osmolality of 522 mOsm/kg, urine sodium of 162 mmol/L, and urine chloride of 162 mmol/L. We started normal saline for hypovolemia, each 1 L prior and after amphotericin therapy. However, hypovolemia did not improve significantly despite IV fluid. Cosyntropin stimulation test was negative, and renin level was 0.25 ng·mL·h, with the aldosterone level of Salt tablets, normal saline, or fludrocortisone can be used for treatment.

  16. Summary of differentiation and treating on spleen Yin deficiency syndrome%脾阴虚证辨治概要

    Institute of Scientific and Technical Information of China (English)

    王军瑞

    2011-01-01

    针对中医脾病辨证中对脾阴的认识不足,以中医理论为基础,就脾阴的理论源流、病因病机、证候特点、类证鉴别及治疗方药等加以阐述,旨在说明脾阴脾阳同等重要,脾阴虚与脾气虚、胃阴虚不可混淆,并在一定程度上证明脾阴虚的发生确有其病理学基础.%Aiming at the recognition insufficient about spleen yin in the disease syndrome differentiation of TCM and on the basis of TCM theory this article explained the theoretical origin and development, etiology and pathogenesis, syndrome characteristic, similar syndrome differentiation and treating herbs for spleen yin. It was suggested that spleen yin and spleen yang had an equal important role and confusion could not performed between spleen yin deficiency, spleen Qi deficiency and stomach yin deficiency. In some extent, demonstration the occurrence of spleen yin deficiency had its pathologic foundation indeed.

  17. Síndrome de Parsonage-Turner em paciente HIV positivo Parsonage-Turner syndrome in HIV seropositive patient

    Directory of Open Access Journals (Sweden)

    Acir Rachid

    2005-02-01

    Full Text Available A síndrome de Parsonage-Turner é uma desordem rara de etiologia ainda indeterminada, contudo com fortes evidências de associação a infecções virais inclusive pelo vírus HIV, que afeta a cintura escapular e desencadeia dor e fraqueza da musculatura do ombro e da extremidade superior. O diagnóstico raramente é feito no início do quadro e poucos exames laboratoriais podem ser úteis, com destaque para a eletroneuromiografia. Seu tratamento é basicamente observacional e de controle dos sintomas e a recuperação é esperada na maioria dos pacientes. Por se tratar de uma enfermidade rara e de difícil diagnóstico clínico, os autores relatam o caso de um paciente com quadro clínico laboratorial compatível com a síndrome de Parsonage-Turner associada à soropositividade ao vírus da imunodeficiência adquirida.Parsonage-Turner syndrome is a rare disorder of unknown etiology, nevertheless with high evidences of association with viral infections, including HIV, which affects the shoulder girdle and unleash pain and weakness of the shoulder and upper extremity. The diagnosis is rarely made in acute setting and few diagnostic tests are helpful, except for electroneuromyography. The treatment is basically supportive and full recovery is expected in most patients. For being a rare ailment allied with difficult diagnosis, the authors report a case of a patient with clinical and laboratorial findings of Parsonage-Turner syndrome associated with acquired immunodeficiency virus seropositivity.

  18. Association of HIV transmissions and non-transmission knowledge with negative attitudes to HIV/AIDS

    Institute of Scientific and Technical Information of China (English)

    WEN Yu-feng; WANG Hua-dong; ZHAO Cun-xi; YAO Ying-shui; YE Dong-qing; JIANG Zuo-jun

    2011-01-01

    Background Human immunodeficiency virus/acquired immure deficiency syndrome (HIV/AIDS)-related stigma is an obstacle to the implementation of treatment, care, and support programs for people living with HIV/AIDS. This study explored the association of the HIV knowledge with the attitudes toward HIV/AIDS.Methods A cross-sectional survey was conducted in HIV epidemic rural areas with 5355 participants. Their knowledge and attitudes about HIV/AIDS were assessed, and the associations of HIV transmission and non-transmission knowledge with negative attitudes towards the HIV/AIDS were analyzed.Results Negative attitudes were significantly correlated with the HIV non-transmission knowledge and the correlation was higher than that with HIV transmission knowledge among participants who were male, 20 years old and migrant workers, students and respondents of and above junior high school. However, among those who were female, age 30 and older, illiterate with primary school education, negative attitudes were significantly associated with HIV non-transmission knowledge and the association was lower than that with HIV transmission knowledge.Conclusions HIV transmission knowledge and non-transmission knowledge have different influences on negative attitudes towards HIV/AIDS among different demographic subgroups.

  19. Vitamin D deficiency among HIV type 1-infected individuals in the Netherlands: effects of antiretroviral therapy.

    NARCIS (Netherlands)

    Beukel, CJ van den Bout-va; Fievez, L.; Michels, M.; Sweep, F.C.; Hermus, A.R.M.M.; Bosch, M.E.; Burger, D.M.; Bravenboer, B.; Koopmans, P.P.; Ven, A.J.A.M. van der

    2008-01-01

    Vitamin D regulates bone metabolism but has also immunoregulatory properties. In HIV-infected patients bone disorders are increasingly observed. Furthermore, low 1,25(OH)(2)D(3) levels have been associated with low CD4(+) counts, immunological hyperactivity, and AIDS progression rates. Few studies h

  20. Vitamin D deficiency among HIV type 1-infected individuals in the Netherlands: effects of antiretroviral therapy.

    NARCIS (Netherlands)

    Beukel, CJ van den Bout-va; Fievez, L.; Michels, M.; Sweep, F.C.; Hermus, A.R.M.M.; Bosch, M.E.; Burger, D.M.; Bravenboer, B.; Koopmans, P.P.; Ven, A.J.A.M. van der

    2008-01-01

    Vitamin D regulates bone metabolism but has also immunoregulatory properties. In HIV-infected patients bone disorders are increasingly observed. Furthermore, low 1,25(OH)(2)D(3) levels have been associated with low CD4(+) counts, immunological hyperactivity, and AIDS progression rates. Few studies h

  1. HIV & AIDS Prevention Guide for Parents.

    Science.gov (United States)

    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…

  2. Disaccharidase deficiency.

    Science.gov (United States)

    Bayless, T M; Christopher, N L

    1969-02-01

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

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

    DEFF Research Database (Denmark)

    Schejbel, Lone; Rosenfeldt, Vibeke; Marquart, Hanne

    2009-01-01

    deficiency in a large Pakistani family. The index cases were found by screening for immunodeficiency due to a history of recurrent infections. This revealed absent AP activity, but normal classical and lectin pathway activity. Sequencing of the properdin gene (PFC) revealed a novel frameshift mutation. When...... all available relatives (n=24) were screened for the mutation, four affected males, four female carriers and a male heterozygous carrier were identified. He was subsequently diagnosed with Klinefelter syndrome. A questionnaire revealed a striking association between properdin deficiency and recurrent...

  4. The Pathophysiology of HIV-/HAART-Related Metabolic Syndrome Leading to Cardiovascular Disorders: The Emerging Role of Adipokines

    OpenAIRE

    John Palios; Kadoglou, Nikolaos P. E.; Stylianos Lampropoulos

    2012-01-01

    Individuals infected with human immunodeficiency virus (HIV) frequently demonstrate metabolic syndrome (MS) associated with increased incidence of cardiovascular disorders. Characteristics of HIV infection, such as immunodeficiency, viral load, and duration of the disease, in addition to the highly active antiretroviral therapy (HAART) have been suggested to induce MS in these patients. It is well documented that MS involves a number of traditional cardiovascular risk factors, like glucose, l...

  5. Corticoid therapy for overlapping syndromes in an HIV-positive patient.

    Science.gov (United States)

    Kaku, Yu; Kodama, Shoko; Higuchi, Makiko; Nakamura, Akihiro; Nakamura, Masataka; Kaieda, Tomoe; Takahama, Soichiro; Minami, Rumi; Miyamura, Tomoya; Suematsu, Eiichi; Yamamoto, Masahiro

    2015-01-01

    Human immunodeficiency virus (HIV) infection disturbs the host's immune function and often coexists with various autoimmune and/or systemic rheumatic diseases with manifestations that sometimes overlap with each other. We herein present the case of a 43-year-old Japanese man infected with HIV who exhibited elevated serum creatine kinase and transaminases levels without any symptoms. He was diagnosed with autoimmune hepatitis, polymyositis and Sjögren's syndrome and received combined antiretroviral therapy (cART); however, the laboratory abnormalities persisted. We successfully administered cART with the addition of oral prednisolone, and the patient's condition recovered without side effects related to the metabolic or immunosuppressive effects of these drugs.

  6. Prevalence and risk factors of micronutrient deficiencies pre- and post-antiretroviral therapy (ART) among a diverse multicountry cohort of HIV-infected adults.

    Science.gov (United States)

    Shivakoti, Rupak; Christian, Parul; Yang, Wei-Teng; Gupte, Nikhil; Mwelase, Noluthando; Kanyama, Cecilia; Pillay, Sandy; Samaneka, Wadzanai; Santos, Breno; Poongulali, Selvamuthu; Tripathy, Srikanth; Riviere, Cynthia; Berendes, Sima; Lama, Javier R; Cardoso, Sandra W; Sugandhavesa, Patcharaphan; Tang, Alice M; Semba, Richard D; Campbell, Thomas B; Gupta, Amita

    2016-02-01

    HIV-infected adults have increased risk of several individual micronutrient deficiencies. However, the prevalence and risk factors of concurrent and multiple micronutrient deficiencies and whether micronutrient concentrations change after antiretroviral therapy (ART) initiation have not been well described. The objective of this study was to determine the prevalence and risk factors of individual, concurrent and multiple micronutrient deficiencies among ART-naïve HIV-infected adults from nine countries and assess change in micronutrient status 48 weeks post-ART initiation. A random sub-cohort (n = 270) stratified by country was selected from the multinational PEARLS clinical trial (n = 1571 ART-naïve, HIV-infected adults). We measured serum concentrations of vitamins A, D (25-hydroxyvitamin), E, carotenoids and selenium pre-ART and 48 weeks post-ART initiation, and measured vitamins B6, B12, ferritin and soluble transferrin receptor at baseline only. Prevalence of single micronutrient deficiencies, concurrent (2 coexisting) or conditional (a deficiency in one micronutrient given a deficiency in another) and multiple (≥3) were determined using defined serum concentration cutoffs. We assessed mean changes in micronutrient concentrations from pre-ART to week 48 post-ART initiation using multivariable random effects models. Of 270 participants, 13.9%, 29.2%, 24.5% and 32.4% had 0, 1, 2 and multiple deficiencies, respectively. Pre-ART prevalence was the highest for single deficiencies of selenium (53.2%), vitamin D (42.4%), and B6 (37.3%) with 12.1% having concurrent deficiencies of all three micronutrients. Deficiency prevalence varied widely by country. 48 weeks post-ART initiation, mean vitamin A concentration increased (p ART (p ART initiation but vary between countries. Importantly, despite increases in micronutrient concentrations, prevalence of individual deficiencies remains largely unchanged after 48 weeks on ART. Our results suggest that ART alone is

  7. White monkey syndrome and presumptive copper deficiency in wild savannah baboons.

    Science.gov (United States)

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

    2011-11-01

    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 (1) Cu deficiency may have been induced by zinc (Zn) toxicity, (2) it may have been induced by molybdenum (Mo) toxicity, and (3) cumulative rainfall during the perinatal period and particularly during gestation is an ecological factor distinguishing infants afflicted with WMS from non-WMS infants. During 2001-2009, 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 before 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.

  8. Complex regional pain syndrome treated with intravenous immunoglobulin in a patient with common variable immune deficiency.

    Science.gov (United States)

    Tachdjian, Raffi

    2013-12-01

    Common variable immunodeficiency (CVID) represents a large heterogeneous group of antibody-deficiency syndromes associated with a wide range of clinical features and a lack of defined causes in the realm of primary immunodeficiencies. Here, we present a case of CVID in a 62-year-old white male patient with a history of longstanding complex regional pain syndrome (CRPS). His medical history included multiple sinus infections per year and several pneumonias requiring antibiotics. He has had various back surgeries, including a laminectomy at the L4 level 1 year prior to his diagnosis. Thereafter, he underwent four sympathetic nerve blocks with minimal pain relief. Blood chemistries showed a normal white blood cell count with a normal differential, but increased erythrocyte sedimentation rate and C-reactive protein levels. Total Ig (Immunoglobulin)G was 611 mg/dL (normal 700-1,600), IgG1 was 425 mg/dL (341-894), IgG2 was 114 mg/dL (171-632), IgG3 was 14.4 mg/dL (18.4-106), and IgG4 was 7.4 mg/dL (2.4-121). IgA was 47 mg/dL (normal 70-400), IgM was 131 mg/dL (40-230), and IgE was 4.5 kU/L (<4.0). He only had 10 of 23 pneumococcal titers in the protective range post-vaccination. Upon treatment of the CVID with intravenous immunoglobulin, the patient's pain levels were significantly decreased and have been maintained for more than 2 years. Therefore, immunoglobulin therapy appears to have been beneficial in the treatment of the patient's symptoms of CRPS, including pain. Additional studies investigating the mechanism by which immunoglobulin therapy may reduce the inflammation and pain of CRPS are needed.

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

    Science.gov (United States)

    Hässig, A; Wen-Xi, L; Stampfli, K

    1996-04-01

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

  10. Abacavir, an anti–HIV-1 drug, targets TDP1-deficient adult T cell leukemia

    OpenAIRE

    Tada, K; Kobayashi, M.; Takiuchi, Y.; Iwai, F.; Sakamoto, T; Nagata, K.; Shinohara, M.; Io, K.; Shirakawa, K.; Hishizawa, M.; Shindo, K.; Kadowaki, N.; Hirota, K; Yamamoto, J.; Iwai, S.

    2015-01-01

    Adult T cell leukemia (ATL) is an aggressive T cell malignancy caused by human T cell leukemia virus type 1 (HTLV-1) and has a poor prognosis. We analyzed the cytotoxic effects of various nucleoside analog reverse transcriptase inhibitors (NRTIs) for HIV-1 on ATL cells and found that abacavir potently and selectively kills ATL cells. Although NRTIs have minimal genotoxicities on host cells, the therapeutic concentration of abacavir induced numerous DNA double-strand breaks (DSBs) in the chrom...

  11. HIV-associated adipose redistribution syndrome (HARS: etiology and pathophysiological mechanisms

    Directory of Open Access Journals (Sweden)

    Sekhar Rajagopal

    2007-06-01

    Full Text Available Abstract Human immunodeficiency virus (HIV-associated adipose redistribution syndrome (HARS is a fat accumulation disorder characterized by increases in visceral adipose tissue. Patients with HARS may also present with excess truncal fat and accumulation of dorsocervical fat ("buffalo hump". The pathophysiology of HARS appears multifactorial and is not fully understood at present. Key pathophysiological influences include adipocyte dysfunction and an excessive free fatty acid release by adipocyte lipolysis. The contributory roles of free fatty acids, cytokines, hormones including cortisol, insulin and the growth hormone-adipocyte axis are significant. Other potential humoral, paracrine, endocrine, and neural influences are also discussed.

  12. Nevirapine induced Stevens-Johnson syndrome in an HIV infected patient

    Directory of Open Access Journals (Sweden)

    Harminder Singh

    2011-01-01

    Full Text Available Nevirapine, a non-nucleoside reverse transcriptase inhibitor (NNRTI, is widely prescribed as a part of the combination therapy of human immunodeficiency virus (HIV infection because of its efficacy and good tolerability. Here, we report a case of Stevens-Johnson syndrome (SJS secondary to nevirapine. The patient had a diffuse, exfoliating exanthema with generalized bullous eruptions that involved the face, trunk and both extremities with elevated hepatic alanine aminotransferase and aspartate aminotransferase enzyme activities. The condition improved with stoppage of nevirapine-based highly active antiretroviral therapy (HAART regimen, so we attributed this adverse event to nevirapine. A strict vigilance of adverse drug reaction is required in HAART.

  13. Analysis of Tuberculosis-Associated Immune Reconstitution Inlfammatory Syndrome in HIV/TB Co-infected Patients During HAART

    Institute of Scientific and Technical Information of China (English)

    2014-01-01

    ObjectivesTo investigate the clinical features of tuberculosis (TB)-associated immune reconstitution inlfammatory syndrome (TB-IRIS) in patients co-infected with HIV/TB or latent infection during highly active antiretroviral therapy (HAART). Methods HIV-infected patients treated in the Third People’s Hospital of Shenzhen, China between March 2012 and March 2013 were recruited, and divided into 3 groups: 1) HIV/TB co-infection group (n = 50), 2) HIV/MTB latent infection group (n = 50), and 3) HIV infection group (n = 50), with 12-month follow-up. Patients in the HIV/TB co-infection group were treated with HAART 2 weeks after TB therapy. Patients were assessed at different time-points. ResultsThe incidence and mortality rates of TB-IRIS were 40% and 10% in the HIV/TB co-infected patients, and 2% (and no mortality) in the HIV/MTB group. The HIV infected group did not display TB-IRIS or death. About 95% HIV/TB co-infected patients were 20-39 years old when TB-IRIS occurred, and 65% of the patients developed TB-IRIS 2 weeks after HAART. For the co-infection group, those with TB-IRIS (20/20, 100%) had fever, with a signiifcantly higher incidence than those who did not develop TB-IRIS (6.7%, 2/30,P < 0.05). The patients with TB-IRIS in co-infection group displayed markedly higher clinical biochemical markers, acute phase reactants, increased CD4+ cell counts, and 2 log10-decreases of HIV RNA loads, compared with the patients not presenting with TB-IRIS (P < 0.05). Conclusion HIV/TB co-infected patients presented with a high-risk of developing TB-IRIS during HAART treatment. Early diagnosis and treatment could decrease mortality rates in TB-IRIS.

  14. DNA mismatch repair deficiency and hereditary syndromes in Latino patients with colorectal cancer.

    Science.gov (United States)

    Ricker, Charité N; Hanna, Diana L; Peng, Cheng; Nguyen, Nathalie T; Stern, Mariana C; Schmit, Stephanie L; Idos, Greg E; Patel, Ravi; Tsai, Steven; Ramirez, Veronica; Lin, Sonia; Shamasunadara, Vinay; Barzi, Afsaneh; Lenz, Heinz-Josef; Figueiredo, Jane C

    2017-10-01

    The landscape of hereditary syndromes and clinicopathologic characteristics among US Latino/Hispanic individuals with colorectal cancer (CRC) remains poorly understood. A total of 265 patients with CRC who were enrolled in the Hispanic Colorectal Cancer Study were included in the current study. Information regarding CRC risk factors was elicited through interviews, and treatment and survival data were abstracted from clinical charts. Tumor studies and germline genetic testing results were collected from medical records or performed using standard molecular methods. The mean age of the patients at the time of diagnosis was 53.7 years (standard deviation, 10.3 years), and 48.3% were female. Overall, 21.2% of patients reported a first-degree or second-degree relative with CRC; 3.4% met Amsterdam I/II criteria. With respect to Bethesda guidelines, 38.5% of patients met at least 1 criterion. Of the 161 individuals who had immunohistochemistry and/or microsatellite instability testing performed, 21 (13.0%) had mismatch repair (MMR)-deficient (dMMR) tumors. dMMR tumors were associated with female sex (61.9%), earlier age at the time of diagnosis (50.4 ± 12.4 years), proximal location (61.9%), and first-degree (23.8%) or second-degree (9.5%) family history of CRC. Among individuals with dMMR tumors, 13 (61.9%) had a germline MMR mutation (MutL homolog 1 [MLH1] in 6 patients; MutS homolog 2 [MSH2] in 4 patients; MutS homolog 6 [MHS6] in 2 patients; and PMS1 homolog 2, mismatch repair system component [PMS2] in 1 patient). The authors identified 2 additional MLH1 mutation carriers by genetic testing who had not received immunohistochemistry/microsatellite instability testing. In total, 5.7% of the entire cohort were confirmed to have Lynch syndrome. In addition, 6 individuals (2.3%) had a polyposis phenotype. The percentage of dMMR tumors noted among Latino individuals (13%) is similar to estimates in non-Hispanic white individuals. In the current study, the majority of

  15. Novel mutation in a patient with late onset GLUT1 deficiency syndrome.

    Science.gov (United States)

    Juozapaite, Sandra; Praninskiene, Ruta; Burnyte, Birute; Ambrozaityte, Laima; Skerliene, Birute

    2017-04-01

    Glucose transporter 1 deficiency syndrome (GLUT1-DS) is an inborn error of metabolism caused by impaired glucose transport through blood brain barrier due to mutation in SLC2A1 gene, encoding transporter protein. Clinical spectrum includes various signs and symptoms, ranging from severe epileptic encephalopathy to movement disorders. The diagnosis of GLUT1-DS requires hypoglycorrhachia in the presence of normoglycaemia with a reduced cerebrospinal fluid (CSF):plasma glucose ratio. The absence of pathogenic mutation in SLC2A1 gene does not exclude the diagnosis. This case report describes a patient with late onset GLUT1-DS with a novel sporadic mutation c.539T>A, p.Met180Lys in exon 5 of the SLC2A1 gene. The dominating clinical features were epilepsy and paroxysmal dyskinesias provoked by infection, emotional stress and fasting. The ictal EEG was characterized by generalized paroxysmal 3-3.5Hz spike-slow wave complexes (absences). Treatment with ketogenic diet showed clinical improvement with the reduction of paroxysmal dyskinesias. Copyright © 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  16. Brain correlates of spike and wave discharges in GLUT1 deficiency syndrome.

    Science.gov (United States)

    Vaudano, Anna Elisabetta; Olivotto, Sara; Ruggieri, Andrea; Gessaroli, Giuliana; De Giorgis, Valentina; Parmeggiani, Antonia; Veggiotti, Pierangelo; Meletti, Stefano

    2017-01-01

    To provide imaging biomarkers of generalized spike-and-wave discharges (GSWD) in patients with GLUT1 deficiency syndrome (GLUT1DS). Eighteen GLUT1DS patients with pathogenetic mutation in SLC2A1 gene were studied by means of Video-EEG simultaneously recorded with functional MRI (VideoEEG-fMRI). A control group of sex and age-matched patients affected by Genetic Generalized Epilepsy (GGE) with GSWD were investigated with the same protocol. Within and between groups comparison was performed as appropriated. For GLUT1DS, correlations analyses between the contrast of interest and the main clinical measurements were provided. EEG during fMRI revealed interictal GSWD in 10 GLUT1DS patients. Group-level analysis showed BOLD signal increases at the premotor cortex and putamen. With respect to GGE, GLUT1DS patients demonstrated increased neuronal activity in the putamen, precuneus, cingulate cortex, SMA and paracentral lobule. Whole-brain correlation analyses disclosed a linear relationship between the GSWD-related BOLD changes and the levels of glycorrhachia at diagnosis over the sensory-motor cortex and superior parietal lobuli. The BOLD dynamics related to GSWD in GLUT1DS are substantially different from typical GGE showing the former an increased activity in the premotor-striatal network and a decrease in the thalamus. The revealed hemodynamic maps might represent imaging biomarkers of GLUT1DS, being potentially useful for a precocious diagnosis of this genetic disorder.

  17. Eculizumab in neonatal hemolytic uremic syndrome with homozygous factor H deficiency.

    Science.gov (United States)

    Michaux, Katell; Bacchetta, Justine; Javouhey, Etienne; Cochat, Pierre; Frémaux-Bacchi, Véronique; Sellier-Leclerc, Anne-Laure

    2014-12-01

    Neonatal atypical hemolytic uremic syndrome (aHUS) is a rare but severe disease that is mainly due to methylmalonic aciduria or genetic complement abnormalities. Traditional management of aHUS includes plasma infusion/exchange, but in small or unstable infants, plasma exchange can be challenging because of high extracorporeal volume and difficulty to obtain an adequate venous access. The C5 complement blocker eculizumab has become a cornerstone of first-line management of aHUS due to complement deregulation in older patients. However, little data are available on its use in neonatal aHUS. We report on an 11-day-old neonate with severe aHUS (myocardial impairment, respiratory failure, acute kidney disease requiring hemodiafiltration) due to homozygous factor-H deficiency. She received early treatment with eculizumab as first-line therapy and completely recovered within 5 days. A second dose of eculizumab was administered 7 days after the first infusion, followed by a dose every 2 weeks for 2 months and then every 3 weeks, at the same dosage (300 mg). With more than 24 months of follow-up, renal function remains normal. We report on the long-term efficacy and safety of eculizumab as first-line therapy in neonatal aHUS. However its use still requires optimization in terms of indications and administration (frequency, dosage).

  18. Penicillium marneffei chylous ascites in acquired immune deficiency syndrome: A case report

    Institute of Scientific and Technical Information of China (English)

    Yin-Zhong Shen; Zhen-Yan Wang; Hong-Zhou Lu

    2012-01-01

    Penicillium marneffei (P.marneffei) infection usually occurs with skin,bone marrow,lung or hepatic involvement.However,no cases of P.marneffei infection with chylous ascites have been reported thus far.In this report,we describe the first case of acquired immune deficiency syndrome (AIDS) which has been complicated by a P.marneffei infection causing chylous ascites.We describe the details of the case,with an emphasis on treatment regimen.This patient was treated with amphotericin B for 3 mo,while receiving concomitant therapy with an efavirenz-containing antiretroviral regimen,but cultures in ascitic fluid were persistently positive for P.marneffei.The infection resolved after treatment with high-dose voriconazole (400 mg every 12 h) for 3 mo.P.marneffei should be considered in the differential diagnosis of chylous ascites in human immunodeficiency virus patients.High-dose voriconazole is an effective,well-tolerated and convenient option for the treatment of systemic infections with P.marneffei in AIDS patients on an efavirenz-containing antiretroviral regimen.

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

    Science.gov (United States)

    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.

  20. Modified Atkins diet therapy for a case with glucose transporter type 1 deficiency syndrome.

    Science.gov (United States)

    Ito, Susumu; Oguni, Hirokazu; Ito, Yasushi; Ishigaki, Keiko; Ohinata, Junko; Osawa, Makiko

    2008-03-01

    Glucose transporter type 1 deficiency syndrome (GLUT-1 DS), giving rise to impaired glucose transport across the blood-brain barrier, is characterized by infantile seizures, complex motor disorders, global developmental delay, acquired microcephaly, and hypoglycorrhachia. GLUT-1 DS can be treated effectively with a ketogenic diet because it can provide an alternative fuel for brain metabolism; however, the excessive restriction of food intake involved frequently makes it difficult for patients to initiate or continue the diet. Recently, the modified Atkins diet, which is much less restrictive in terms of the total calorie and protein intake than the classical ketogenic diet, has been shown to be effective and well tolerated in children with intractable epilepsy. We successfully introduced the modified Atkins diet to a 7-year-old boy with GLUT-1 DS, whose caregivers refused ketogenic diet treatment because of strong concerns over restricting the diet. The modified Atkins diet should be considered for patients with GLUT-1 DS as an alternative to the traditional ketogenic diet.

  1. Movement disorders in GLUT1 deficiency syndrome respond to the modified Atkins diet.

    Science.gov (United States)

    Leen, Wilhelmina G; Mewasingh, Leena; Verbeek, Marcel M; Kamsteeg, Erik-Jan; van de Warrenburg, Bart P; Willemsen, Michel A

    2013-09-01

    Movement disorders are a prominent feature of glucose transporter-1 (GLUT1) deficiency syndrome (GLUT1DS). First-choice treatment is a ketogenic diet, but compliance is poor. We have investigated the effect of the modified Atkins diet as an alternative treatment for movement disorders in GLUT1DS. Four patients with GLUT1DS ages 15 to 30 years who had movement disorders as the most prominent feature were prospectively evaluated after initiation of the modified Atkins diet. Movement disorders included dystonia, ataxia, myoclonus, and spasticity, either continuous or paroxysmal, triggered by action or exercise. Duration of treatment ranged from 3 months to 16 months. All patients reached mild to moderate ketosis and experienced remarkable improvement in the frequency and severity of paroxysmal movement disorders. Cognitive function also improved subjectively. The modified Atkins diet is an effective and feasible alternative to the ketogenic diet for the treatment of GLUT1DS-related paroxysmal movement disorders in adolescence and adulthood. © 2013 International Parkinson and Movement Disorder Society.

  2. Effect of Equiguard in Treating Patients with Shen-Yang Deficiency Syndrome

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    Objective:To observe the therapeutic effect of Equiguard in old patients with Shen (肾)-yang deficiency syndrome (SYDS).Methods:Twenty old patients with diagnosis matching the criteria of SYDS selected from out-patients were administered with Equiguard capsule 3 times per day,0.70 g each time for 3 successive months.The changes in general condition,peripheral blood picture,function of the liver and kidney,and sex hormones before and after treatment were observed.The changes in the American Urinary Surgery Association (AUA) score of prostatism,urosis and residue urine in the urinary bladder were also estimated.Results:After the 3-month treatment,no significant change was found in the patients' general condition,peripheral blood picture,liver and kidney function and sex hormones,while the symptoms of prostatism and urosis were markedly improved (P<0.01),and the volume of residue urine in the urinary bladder was obviously reduced.Conclusion:Equiguard shows a significant therapeutic effect in treating old patients with SYDS,which could effectively improve the symptoms of prostatism and urosis in patients and is highly safe.

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

    Science.gov (United States)

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

    2011-03-01

    The natural history of all known patients with French-Canadian Leigh disease (Saguenay-Lac-St-Jean cytochrome c oxidase deficiency, MIM220111, SLSJ-COX), the largest known cohort of patients with a genetically homogeneous, nuclear encoded congenital lactic acidosis, was studied. 55 of 56 patients were homozygous for the A354V mutation in LRPPRC. One was a genetic compound (A354V/C1277Xdel8). Clinical features included developmental delay, failure to thrive, characteristic facial appearance and, in 90% of patients, acute crises that have not previously been detailed, either metabolic (fulminant lactic acidosis) and/or neurological (Leigh syndrome and/or stroke-like episodes). Survival ranged from 5 days to >30 years. 46/56 patients (82%) died, at a median age of 1.6 years. Of 73 crises, 38 (52%) were fatal. The immediate causes of death were multiple organ failure and/or Leigh disease. Major predictors of mortality during crises (pgenetic and/or environmental factors can influence outcome.

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

    Science.gov (United States)

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

    2015-11-12

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

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

    Science.gov (United States)

    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.

  6. Vanishing Lung Syndrome in a Patient with HIV Infection and Heavy Marijuana Use

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    Basheer Tashtoush

    2014-01-01

    Full Text Available Vanishing lung syndrome (VLS is a rare and distinct clinical syndrome that usually affects young men. VLS leads to severe progressive dyspnea and is characterized by extensive, asymmetric, peripheral, and predominantly upper lobe giant lung bullae. Case reports have suggested an additive role of marijuana use in the development of this disease in young male tobacco smokers. We herein report a case of a 65-year-old Hispanic male previously diagnosed with severe emphysema and acquired immune deficiency syndrome (AIDS, with a history of intravenous heroin use and active marijuana smoking who presents to the emergency department with severe progressive shortness of breath he was found to have multiple large subpleural bullae occupying more than one-third of the hemithorax on chest computerized tomography (CT, characteristic of vanishing lung syndrome. The patient was mechanically ventilated and later developed a pneumothorax requiring chest tube placement and referral for surgical bullectomy. Surgical bullectomy has shown high success rates in alleviating the debilitating symptoms and preventing the life threatening complications of this rare syndrome. This case further emphasizes the importance of recognizing VLS in patients with severe emphysema and heavy marijuana smoking.

  7. Differences between HIV-infected and uninfected adults in the contributions of smoking, diabetes and hypertension to acute coronary syndrome: two parallel case-control studies.

    Science.gov (United States)

    Calvo-Sánchez, M; Perelló, R; Pérez, I; Mateo, M G; Junyent, M; Laguno, M; Blanco, J L; Martínez-Rebollar, M; Sánchez, M; Mallolas, J; Gatell, J M; Domingo, P; Martínez, E

    2013-01-01

    The aim of the study was to assess the separate contributions of smoking, diabetes and hypertension to acute coronary syndrome (ACS) in HIV-infected adults relative to uninfected adults. Two parallel case-control studies were carried out. In the first study, HIV-positive adults diagnosed with ACS between 1997 and 2009 (HIV+/ACS) were matched for age, gender and known duration of HIV infection with HIV-positive adults without ACS (HIV+/noACS), each individual in the HIV+/ACS group being matched with three individuals in the HIV+/noACS group. In the second study, each individual in the HIV+/ACS group in the first study was matched for age, gender and calendar date of ACS diagnosis with three HIV-negative individuals diagnosed with ACS between 1997 and 2009 (HIV-/ACS). Each individual in the HIV-/ACS group was then matched for age and gender with an HIV-negative adult without ACS (HIV-/noACS). After matching, the ratio of numbers of individuals in the HIV+/ACS, HIV+/noACS, HIV-/ACS and HIV-/noACS groups was therefore 1 : 3 : 3 : 3, respectively. We performed logistic regression analyses to identify risk factors for ACS in each case-control study and calculated population attributable risks (PARs) for smoking, diabetes and hypertension in HIV-positive and HIV-negative individuals. There were 57 subjects in the HIV+/ACS group, 173 in the HIV+/noACS group, 168 in the HIV-/ACS group, and 171 in the HIV-/noACS group. Independent risk factors for ACS were smoking [odds ratio (OR) 4.091; 95% confidence interval (CI) 2.086-8.438; P hypertension (OR 6.589; 95% CI 3.554-12.700; P hypertension were 54.35 and 30.58, 6.57 and 17.24, and 9.07 and 38.81% in HIV-positive and HIV-negative individuals, respectively. The contribution of smoking to ACS in HIV-positive adults was generally greater than the contributions of diabetes and hypertension, and was almost twice as high as that in HIV-negative adults. Development of effective smoking cessation strategies should be

  8. Measles mimicking HIV seroconversion syndrome: a case report

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    Brook Gary

    2010-02-01

    Full Text Available Abstract Introduction Measles is on the rise in the United Kingdom and must be considered in the differential diagnosis of any patient presenting with fever and rash. As a highly infectious disease, identified patients must be isolated in the hospital setting. Case presentation A 28-year-old Polish woman presented ill to the accident and emergency department of a district general hospital. She had painful genital ulceration, oral soreness, fever, and a facial rash. She became hypoxic within 24 hours of presentation and began to tire, thus requiring noninvasive ventilation. Her respiratory symptoms were out of proportion to the findings of her chest radiograph, which remained virtually normal. Human immunodeficiency virus seroconversion syndrome complicated by Pneumocystis carinii pneumonia was high among the differential diagnoses. She was given cotrimoxazole, high-dose steroids, broad spectrum antibiotics, and anti fungal cover. Human immunodeficiency virus polymerase chain reaction came back as negative and her symptoms resolved within 10 days of presentation. She was taken off all treatment and discharged home feeling well. Serological measles was confirmed as part of a viral screen, but its clinical suspicion was low. Conclusion The presentation of measles in this patient was unique and atypical. With its incidence rising in the United Kingdom, measles must be increasingly considered as a differential diagnosis in patients presenting with fever and rash.

  9. 3种不同中医证型艾滋病患者外周血CD+4CD+25调节性T细胞的表达%Expression of CD+4CD+25 regulatory T cell in peripheral blood of HIV/AIDS patients with different TCM syndromes

    Institute of Scientific and Technical Information of China (English)

    陈晓蓉; 杨宗国; 沈芳; 王江蓉; 卢洪洲; 杨悦娅

    2011-01-01

    objective: To observe the expression level of CD4+CD25+ regulatory T cell in peripheral blood of HIV/AIDS patients with different TCM syndromes, and to probe the immune negative regulation ability of HIV/AIDS. Methods: Based on the symptoms,signs,tongue manifestations, pulse conditions of AIDS patients, according to the thought of TCM Treatment with syndrome differentiation ,we divided the 97 HIV/AIDS patients into 3 different syndrome type, deficiency of pulmonary and renal syndrome, qi asthenia and blood stasis syndrome, and deficiency of spleen and renal syndrome, in order to observe the expression level of CD4+ CD25+ regulatory T cell in peripheral blood of HIV/AIDS patients with different TCM syndromes and 30cases of normal in control group. Results: The statistical significance of the expression level of CD4+ CD25+ regulatory T cell was observed among the 3 kinds of syndrome and control group (P<0.001). The deficiency of spleen and renal syndrome own the highest expression level of CD4+CD25+ regulatory T cell, followed by deficiency of pulmonary and renal syndrome, and qi asthenia and blood stasis syndrome. Conclusion: The expression level of CD4+CD25+ regulatory T cell of HIV/AIDS patients with different TCM syndromes has being reduced gradually from the deficiency of spleen and renal syndrome, to the deficiency of pulmonary and renal syndrome, and to the qi asthenia and blood stasis syndrome.%目的:观察不同中医证型艾滋病患者CD+4CD+25调节性T细胞(以下简称CD+4CD+25T细胞)的表达水平,探讨不同证型艾滋病免疫负调节能力.方法:根据艾滋病患者的症状、体征、舌象、脉象,按照中医辨证论治思路,分为肺肾不足、气虚血瘀、脾肾亏虚3种证型,设正常对照组30名,收集病例97例,观察不同证型艾滋病患者及正常对照组外周血CD+4CD+25T细胞的表达水平.结果:正常对照组、脾肾亏虚、肺肾不足、气虚血瘀各组患者CD+4CD+25T细胞的表

  10. The correlation between perceived social support and illness uncertainty in people with human immunodeficiency virus/acquired immune deficiency syndrome in Iran

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    Moosa Sajjadi

    2015-01-01

    Full Text Available Background: Illness uncertainty is a source of a chronic and pervasive psychological stress for people living with human immunodeficiency virus (HIV/acquired immune deficiency syndrome (AIDS (PLWH, and largely affects their quality of life and the ability to cope with the disease. Based on the uncertainty in illness theory, the social support is one of the illness uncertainty antecedents, and influences the level of uncertainty perceived by patients. Aim: To examine uncertainty in PLWH and its correlation with social support in Iran. Materials and Methods: This cross-sectional correlational study was conducted with 80 PLWH presenting to AIDS Research Center, Tehran, Iran in 2013. The data collected using illness uncertainty and social support inventories were analyzed through Pearson′s correlation coefficient, Spearman′s correlation coefficient, and regression analysis. Results: The results showed a high level of illness uncertainty in PLWH and a negative significant correlation between perceived social support and illness uncertainty ( P = 0.01, r = -0.29. Conclusion: Uncertainty is a serious aspect of illness experience in Iranian PLWH. Providing adequate, structured information to patients as well as opportunities to discuss their concerns with other PLWH and receive emotional support from their health care providers may be worthwhile.

  11. Generalized verrucosis in a patient with GATA2 deficiency.

    Science.gov (United States)

    West, E S; Kingsbery, M Y; Mintz, E M; Hsu, A P; Holland, S M; Rady, P L; Tyring, S K; Grossman, M E

    2014-05-01

    Generalized verrucosis is a characteristic of several genetic and immunodeficiency disorders including epidermodysplasia verruciformis; warts, hypogammaglobulinaemia, infections and myelokathexis (WHIM) syndrome; warts, immunodeficiency, lymphoedema and anogenital dysplasia (WILD) syndrome; severe combined immune deficiency and HIV, among others. In recent years, it has been consistently recognized in patients with GATA2 deficiency, a novel immunodeficiency syndrome characterized by monocytopenia, B-cell and natural killer-cell lymphopenia, and a tendency to develop myeloid leukaemias and disseminated mycobacterial, human papillomavirus (HPV) and opportunistic fungal infections. Mutations in GATA2 cause haploinsufficiency and track in families as an autosomal dominant immunodeficiency. GATA2 is a transcription factor involved in early haematopoietic differentiation and lymphatic and vascular development. We describe a case of generalized verrucosis with HPV type 57 presenting in a young man with GATA2 deficiency. GATA2 deficiency is a novel dominant immunodeficiency that is often recognized later in life and should be considered in the differential diagnosis of patients with generalized verrucosis.

  12. Clinical syndrome in HIV/AIDS resulting in hospitalization based on the CD4 count

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    Mahmood Mahmood

    2009-01-01

    Full Text Available (Received 3 November, 2009 ; Accepted 10 March, 2010AbstractBackground and purpose: The CD4 lymphocyte count is the strongest index indicating the severity of immunodeficiency, prediction of incidence, diagnosis, and making a decision to start anti retroviral treatment and follow up of therapeutic response. This study was conducted to establish the clinical syndrome resulting in admission of patients with HIV infection based on the CD4 count.Materials and methods: This cross-sectional descriptive study was performed on 71 HIV patients admitted at least for onece to Imam Khomeini Hospital, Tehran during 2008 and 2009. HIV infection was confirmed by positive ELISA and Western blot. The obtained data were analyzed using SPSS software, version 16.Results: From a total of 71 patients, 8.5% were female and 91.5% were male. The mean age of the subjects was 35 ± 8.1 years. 74.6% were addicted and 38% had a prison history. The average CD4 count was 202.9 ± 20.09 /ML. 21.1% of the patients received anti-retroviral medication. 49.3% of HIV patients had hepatitis C and 18.6% had hepatitis B simultaneously. Patient with PCP, toxoplasma and TB had the least CD4 count, with an average of 75.85, 94.66 and 143.95 /ML respectively. Patients with empyema, esophagititis and abscess of femur had the highest CD4 average count of 698, 536 and 349.5 ML, respectively. There was a significant correlation between pneumonia and CD4<200/ML (P=0.001 and also, between prison history and TB (P<0.001, and between TB and CD4<200/ML (P=0.012.Conclusion: The prevalence of Pneumocystic pneumonia, Toxoplasmosis and TB syndrome may be higher in patients with CD4<200/ML and the incidence of pulmonary TB were greater in patients eith prison history. Key words: HIV, AIDS, CD4 lymphocyte count, pneumonia, tuberclosisJ Mazand Univ Med Sci 2009; 19(74: 70-77 (Persian.

  13. B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans

    OpenAIRE

    Warnatz, Klaus; Salzer, Ulrich; Rizzi, Marta; Fischer, Beate; Gutenberger, Sylvia; Böhm, Joachim; Kienzler, Anne-Kathrin; Pan-Hammarström, Qiang; Hammarström, Lennart; Rakhmanov, Mirzokhid; Schlesier, Michael; Grimbacher, Bodo; Peter, Hans-Hartmut; Eibel, Hermann

    2009-01-01

    B-cell survival depends on signals induced by B-cell activating factor (BAFF) binding to its receptor (BAFF-R). In mice, mutations in BAFF or BAFF-R cause B-cell lymphopenia and antibody deficiency. Analyzing BAFF-R expression and BAFF-binding to B cells in common variable immunodeficiency (CVID) patients, we identified two siblings carrying a homozygous deletion in the BAFF-R gene. Removing most of the BAFF-R transmembrane part, the deletion precludes BAFF-R expression. Without BAFF-R, B-cel...

  14. A rare cause of congenital adrenal hyperplasia : Antley-Bixler syndrome due to POR deficiency

    NARCIS (Netherlands)

    Herkert, J. C.; Blaauwwiekel, E. E.; Hoek, A.; Veenstra-Knol, H. E.; Kema, I. P.; Arlt, W.; Kerstens, M. N.

    2011-01-01

    Cytochrome P(450) oxidoreductase (POR) deficiency is a recently discovered new variant of congenital adrenal hyperplasia. Distinctive features of POR deficiency are the presence of disorders of sexual development in both sexes, glucocorticoid deficiency and skeletal malformations similar to those ob

  15. A Meta-Analysis of the Metabolic Syndrome Prevalence in the Global HIV-Infected Population.

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    Kim A Nguyen

    Full Text Available Cardio-metabolic risk factors are of increasing concern in HIV-infected individuals, particularly with the advent of antiretroviral therapy (ART and the subsequent rise in longevity. However, the prevalence of cardio-metabolic abnormalities in this population and the differential contribution, if any, of HIV specific factors to their distribution, are poorly understood. Therefore, we conducted a systematic review and meta-analysis to estimate the global prevalence of metabolic syndrome (MS in HIV-infected populations, its variation by the different diagnostic criteria, severity of HIV infection, ART used and other major predictive characteristics.We performed a comprehensive search on major databases for original research articles published between 1998 and 2015. The pooled overall prevalence as well as by specific groups and subgroups were computed using random effects models.A total of 65 studies across five continents comprising 55094 HIV-infected participants aged 17-73 years (median age 41 years were included in the final meta-analysis. The overall prevalence of MS according to the following criteria were: ATPIII-2001:16.7% (95%CI: 14.6-18.8, IDF-2005: 18% (95%CI: 14.0-22.4, ATPIII-2004-2005: 24.6% (95%CI: 20.6-28.8, Modified ATPIII-2005: 27.9% (95%CI: 6.7-56.5, JIS-2009: 29.6% (95%CI: 22.9-36.8, and EGIR: 31.3% (95%CI: 26.8-36.0. By some MS criteria, the prevalence was significantly higher in women than in men (IDF-2005: 23.2% vs. 13.4, p = 0.030, in ART compared to non-ART users (ATPIII-2001: 18.4% vs. 11.8%, p = 0.001, and varied significantly by participant age, duration of HIV diagnosis, severity of infection, non-nucleoside reverse transcriptase inhibitors (NNRTIs use and date of study publication. Across criteria, there were significant differences in MS prevalence by sub-groups such as in men, the Americas, older publications, regional studies, younger adults, smokers, ART-naïve participants, NNRTIs users, participants with shorter

  16. Vitamin D supplementation has no effect on insulin resistance assessment in women with polycystic ovary syndrome and vitamin D deficiency.

    Science.gov (United States)

    Ardabili, Hania R; Gargari, Bahram P; Farzadi, Laya

    2012-03-01

    Insulin resistance is one of the most common features of polycystic ovary syndrome (PCOS). Some studies suggest that vitamin D deficiency may have a role in insulin resistance; thus, the aim of the current study was to determine the effect of vitamin D supplementation on insulin resistance in women with PCOS and a vitamin D deficiency. We hypothesized that vitamin D supplementation would lower the glucose level and insulin resistance in women with PCOS and a vitamin D deficiency. The current study was a randomized, placebo-controlled, double-blinded trial with 50 women with PCOS and a vitamin D deficiency, 20 to 40 years old, assigned to receive 3 oral treatments consisting of 50,000 IU of vitamin D₃ or a placebo (1 every 20 days) for 2 months (vitamin D, n = 24; placebo, n = 26). The fasting blood glucose, insulin, 25-hydroxyvitamin D, and parathyroid hormone levels, as well as the homeostasis model assessment of insulin resistance and quantitative insulin sensitivity check index were measured at baseline and after treatment. In the vitamin D group, the serum level of 25-hydroxyvitamin D increased (6.9 ± 2.8 to 23.4 ± 6.1 ng/mL, P insulin resistance did not change significantly by the end of the study. We were not able to demonstrate the effect of vitamin D supplementation on insulin sensitivity and insulin resistance in women with PCOS and vitamin D deficiency.

  17. Preliminary molecular basis of Danggui-buxue-tang on Qi deficiency and blood stasis syndrome

    Institute of Scientific and Technical Information of China (English)

    LIU Ya; LI Xiao-hui

    2008-01-01

    Objective To study the molecular biology mechanism of Danggui-buxue-tang on tonifying Qi and controlling blood circulation through modulation the immune functional genes. Methods Rats were randomly divided into control group, model group, and Danggui-buxue-tang group. Effect of Dang-guibuxue-tang on mRNA expressions of IL-1β, TNF-α, HSP-70, NF-kB, p38MAPK and JNK in blood cells of rats with Qi deficiency and blood stasis were measured with real-time fluorescent quantitative-PCR at 5th, 14th and 28th day. And that in artery wall were determined at the 28th day. NF-kB/p65 and p-c-jun protein expressions in rat artery wall were detected by western blotting as well. Results In model group, TNF-α, IL-1β, NF-kB, HSP-70, p38MAPK and JNK mRNA expression in blood cell increased significantly compared with control group. Compared with model group, mRNA expression of IL-1βand JNK decreased significantly; TNF-α decreased at 5th, 14th day;HSP-70, p38MAPK decreased at 14th, 28th day; NF-kB decreased at 28th day. In model group, TNF-α, IL-1β, NF-kB, p38MAPK and JNK mRNA expression in artery increased compared with control group, excluded HSP-70, and that in Danggui-buxue-tang group decreased significantly. In model group, NF-kB/p65 and p-c-jun protein expression in artery increased compared with control group, and that in Danggui-buxue-tang group decreased significantly. Conclusions The effects of Dang-guibuxuetang on Qi deficiency and blood stasis syndrome was brought from the regulating of cytokine network at multi-link and multi-target, NF-kB, p38MAPK and JNK signal transduction pathways included. Through which the immune system and whole body reached to a functional balance status.

  18. Unmasking cryptococcal meningitis immune reconstitution inflammatory syndrome in pregnancy induced by HIV antiretroviral therapy with postpartum paradoxical exacerbation

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    Reuben Kiggundu

    2014-07-01

    Full Text Available Cryptococcosis is the most common cause of meningitis in Africa due to the high burden of HIV. Immune reconstitution inflammatory syndrome (IRIS is a frequent and deadly complication of cryptococcal meningitis. We report a fatal case of cryptococcal-IRIS in a pregnant woman that began after starting antiretroviral therapy (unmasking IRIS and markedly worsened postpartum after delivery (paradoxical IRIS.

  19. DUAL-ENERGY X-RAY ABSORPTIOMETRY AND CALCULATED FRAX RISK SCORES MAY UNDERESTIMATE OSTEOPOROTIC FRACTURE RISK IN VITAMIN D–DEFICIENT VETERANS WITH HIV INFECTION

    Science.gov (United States)

    Stephens, Kelly I.; Rubinsztain, Leon; Payan, John; Rentsch, Chris; Rimland, David; Tangpricha, Vin

    2017-01-01

    Objective We evaluated the utility of the World Health Organization Fracture Risk Assessment Tool (FRAX) in assessing fracture risk in patients with human immunodeficiency virus (HIV) and vitamin D deficiency. Methods This was a retrospective study of HIV-infected patients with co-existing vitamin D deficiency at the Atlanta Veterans Affairs Medical Center. Bone mineral density (BMD) was assessed by dual-energy X-ray absorptiometry (DEXA), and the 10-year fracture risk was calculated by the WHO FRAX algorithm. Two independent radiologists reviewed lateral chest radiographs for the presence of subclinical vertebral fractures. Results We identified 232 patients with HIV and vitamin D deficiency. Overall, 15.5% of patients met diagnostic criteria for osteoporosis on DEXA, and 58% had low BMD (T-score between −1 and −2.5). The median risk of any major osteoporotic and hip fracture by FRAX score was 1.45 and 0.10%, respectively. Subclinical vertebral fractures were detected in 46.6% of patients. Compared to those without fractures, those with fractures had similar prevalence of osteoporosis (15.3% versus 15.7%; P>.999), low BMD (53.2% versus 59.3%; P = .419), and similar FRAX hip scores (0.10% versus 0.10%; P = .412). While the FRAX major score was lower in the nonfracture group versus fracture group (1.30% versus 1.60%; P = .025), this was not clinically significant. Conclusion We found a high prevalence of subclinical vertebral fractures among vitamin D–deficient HIV patients; however, DEXA and FRAX failed to predict those with fractures. Our results suggest that traditional screening tools for fragility fractures may not be applicable to this high-risk patient population. PMID:26684149

  20. DUAL-ENERGY X-RAY ABSORPTIOMETRY AND CALCULATED FRAX RISK SCORES MAY UNDERESTIMATE OSTEOPOROTIC FRACTURE RISK IN VITAMIN D-DEFICIENT VETERANS WITH HIV INFECTION.

    Science.gov (United States)

    Stephens, Kelly I; Rubinsztain, Leon; Payan, John; Rentsch, Chris; Rimland, David; Tangpricha, Vin

    2016-04-01

    We evaluated the utility of the World Health Organization (WHO) Fracture Risk Assessment Tool (FRAX) in assessing fracture risk in patients with human immunodeficiency virus (HIV) and vitamin D deficiency. This was a retrospective study of HIV-infected patients with co-existing vitamin D deficiency at the Atlanta Veterans Affairs Medical Center. Bone mineral density (BMD) was assessed by dual-energy X-ray absorptiometry (DEXA), and the 10-year fracture risk was calculated by the WHO FRAX algorithm. Two independent radiologists reviewed lateral chest radiographs for the presence of subclinical vertebral fractures. We identified 232 patients with HIV and vitamin D deficiency. Overall, 15.5% of patients met diagnostic criteria for osteoporosis on DEXA, and 58% had low BMD (T-score between -1 and -2.5). The median risk of any major osteoporotic and hip fracture by FRAX score was 1.45 and 0.10%, respectively. Subclinical vertebral fractures were detected in 46.6% of patients. Compared to those without fractures, those with fractures had similar prevalence of osteoporosis (15.3% versus 15.7%; P>.999), low BMD (53.2% versus 59.3%; P = .419), and similar FRAX hip scores (0.10% versus 0.10%; P = .412). While the FRAX major score was lower in the nonfracture group versus fracture group (1.30% versus 1.60%; P = .025), this was not clinically significant. We found a high prevalence of subclinical vertebral fractures among vitamin D-deficient HIV patients; however, DEXA and FRAX failed to predict those with fractures. Our results suggest that traditional screening tools for fragility fractures may not be applicable to this high-risk patient population.

  1. GH treatment to final height produces similar height gains in patients with SHOX deficiency and turner syndrome: Results of a multicenter trial

    NARCIS (Netherlands)

    W.F. Blum (Werner); J.L. Ross (J.); A.G. Zimmermann (Alan); C.A. Quigley (Charmian); C.J. Child (Christopher); G. Kalifa (Gabriel); C.L. Deal (Cheri Lynn); S.L.S. Drop (Stenvert); G. Rappold (G.); G. Cutler (Gordon)

    2013-01-01

    textabstractContext: Growth impairment in short stature homeobox-containing gene (SHOX) deficiency and Turner syndrome share a similar etiology. Because of the established effect of GH treatment on height in patients with Turner syndrome, we hypothesized that GH therapy would also stimulate growth

  2. GH treatment to final height produces similar height gains in patients with SHOX deficiency and turner syndrome: Results of a multicenter trial

    NARCIS (Netherlands)

    W.F. Blum (Werner); J.L. Ross (J.); A.G. Zimmermann (Alan); C.A. Quigley (Charmian); C.J. Child (Christopher); G. Kalifa (Gabriel); C.L. Deal (Cheri Lynn); S.L.S. Drop (Stenvert); G. Rappold (G.); G. Cutler (Gordon)

    2013-01-01

    textabstractContext: Growth impairment in short stature homeobox-containing gene (SHOX) deficiency and Turner syndrome share a similar etiology. Because of the established effect of GH treatment on height in patients with Turner syndrome, we hypothesized that GH therapy would also stimulate growth i

  3. Severe leukoencephalopathy with fulminant cerebral edema reflecting immune reconstitution inflammatory syndrome during HIV infection: a case report

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    Niederstadt Thomas

    2010-07-01

    Full Text Available Abstract Introduction Immune reconstitution inflammatory syndrome is a well-known complication in HIV-infected patients after initiation of highly active antiretroviral therapy resulting in rapid CD4+ cell count recovery and suppression of viral load. Generally, immune reconstitution inflammatory syndrome is based on opportunistic infections, but rare cases of immune reconstitution inflammatory syndrome inducing demyelinization of the nervous system have also been observed. Case presentation A 37-year-old African woman with HIV infection diagnosed at 13 years of age was admitted to the emergency department after experiencing backache, severe headache, acute aphasia and psychomotor slowing for one week. Nine weeks earlier, highly active antiretroviral therapy in this patient had been changed because of loss of efficacy, and a rapid increase in CD4+ cell count and decrease of HIV viral load were observed. Magnetic resonance imaging of the brain showed extensive white matter lesions, and analysis of cerebrospinal fluid revealed an immunoreactive syndrome. Intensive investigations detected no opportunistic infections. A salvage therapy, including osmotherapy, corticosteroids and treatment of epileptic seizures, was performed, but the patient died from brainstem herniation 48 hours after admission. Neuropathologic examination of the brain revealed diffuse swelling, leptomeningeal infiltration by CD8 cells and enhancement of perivascular spaces by CD8+ cells. Conclusion Immune reconstitution inflammatory syndrome in this form seems to represent a severe autoimmunologic disease of the brain with specific histopathologic findings. This form of immune reconstitution inflammatory syndrome did not respond to therapy, and extremely rapid deterioration led to death within two days. Immune reconstitution inflammatory syndrome may also occur as severe leukoencephalopathy with fulminant cerebral edema during HIV infection with rapid immune reconstitution.

  4. High frequency of deficient consumption and low blood levels of 25-hydroxyvitamin D in HIV-1-infected adults from São Paulo city, Brazil.

    Science.gov (United States)

    Sales, Stephanie Hael; Matta, Sandra Maria; da Matta, Sandra; da Silva, Daniela Cardeal; Assone, Tatiane Assone; Fonseca, Luiz Augusto M; Duarte, Alberto J S; Casseb, Jorge

    2015-08-10

    Micronutrient deficiency is common in patients with HIV/AIDS, usually caused by mal-absorption and/or drug interactions. 25-hydroxyvitamin D is of fundamental importance for the homeostasis of musculoskeletal health. The current study aimed to evaluate the nutritional status of HIV-infected subjects in order to make their nutritional diagnoses, including their vitamin D blood levels, and to estimate their consumption of vitamin D. The study included 98 HIV-1-infected subjects, followed at University of São Paulo Medical School - HC-FMUSP. We performed a nutritional evaluation, along with the determination of patients' serum 25-hydroxyvitamin D and calcium concentration, biochemical analyses, and an anthropometric assessment. In the medical interview a 24-hour food recall was used (R24) to estimate daily calorie intake, macronutrients, calcium, and vitamin D. A high level of vitamin D deficiency was observed in our patients: 83.4% of them had levels below 30 ng/ml; they also presented an increased risk of cardiovascular disease, along with a high consumption of dietary fat. Factors related to the virus itself and to the use of antiretroviral drugs may have contributed for the low vitamin D levels seen in our HIV-1-infected patients.

  5. Outcome of ketogenic diets in GLUT1 deficiency syndrome in Japan: A nationwide survey.

    Science.gov (United States)

    Fujii, Tatsuya; Ito, Yasushi; Takahashi, Satoru; Shimono, Kuriko; Natsume, Jun; Yanagihara, Keiko; Oguni, Hirokazu

    2016-08-01

    To evaluate the outcome of ketogenic diets (KDs) in patients with glucose transport type 1 deficiency syndrome (GLUT1DS) in Japan. A nationwide survey for GLUT1DS was conducted by sending questionnaires to board-certified pediatric neurologists nationwide to obtain clinical and laboratory data. Among 39 patients whose diagnosis was confirmed molecularly or by the 3-O-methylglucose uptake assay, 31 were treated with KDs for longer than 1month. Seventeen patients (55%) were on the modified Atkins diet, 11 (35%) were on the classic KD, and 3 were on the medium-chain triglyceride (MCT) diet. The median values and ranges of serum β-hydroxybutyrate levels in patients on the modified Atkins diet, classic KD and MCT diet were 2.5mM (0.75-4.1), 1.7mM (0.23-3.5) and 2.6mM (1.5-3.0), respectively. The KDs were effective on seizures (80%), aggravation after fasting (80%) and ataxia (79%). Thus, ataxia was as responsive as seizures. Two patients on the classic KD with a ketogenic ratio as low as 1:1 showed improvement in neurological symptoms. The development or intelligence quotient measured using the same psychological scales before and after the KDs in 9 patients did not show a significant improvement; the median quotients before and after the diets were 40 (12-91) and 46 (12-67). The KDs were most effective on seizures, transient aggravation after fasting and ataxia. The efficacy on intellectual development was equivocal. The modified Atkins diet was more commonly used for GLUT1DS in this study, and its ketogenicity was equivalent to the classic KD. Copyright © 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  6. GLUT1-deficiency syndrome: Report of a four-generation Norwegian family with a mild phenotype.

    Science.gov (United States)

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

    2017-05-01

    Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is a rare metabolic encephalopathy with a wide variation of clinical phenotypes. Familial variants are often milder than de novo cases, and may therefore remain undiagnosed. The aim of this study was to characterize the clinical course of GLUT1-DS in a four-generation Norwegian family where the oldest generations had never received any treatment. Through interviews and clinical investigations, we characterized a family of 26 members, where 11 members had symptoms strongly suggesting GLUT1-DS. All members were offered genetic testing of the SLC2A1 gene. Affected members were offered treatment with ketogenic diet, and the effect of the treatment was registered. We sequenced the SLC2A1 gene in 13 members, and found that 10, all with symptoms, had the c.823G>A (p.Ala275Thr) variant. All affected members had experienced early-onset epilepsy, paroxysmal exercise-induced dyskinesias, and most had mild learning disability. Moreover, some had symptoms and signs of a distal neuropathy in addition to reduced sense of orientation and excessive daytime sleep. Their load of symptoms had decreased over the years, although that they never had received any treatment. Nevertheless, those who started dietary treatment all experienced an improved quality of life. We report a four-generation family with GLUT1-DS where the disease has a mild course, even when untreated. In addition to classical GLUT1-DS features, we also describe symptoms which have never been reported in GLUT1-DS previously. As such, this family extends the phenotypic spectrum of GLUT1-DS and underlines the importance of diagnosing also relatively mildly affected patients, even in adult life, as they also seem to benefit from dietary treatment. Published by Elsevier Inc.

  7. A Rare Combination: Congenital Adrenal Hyperplasia Due To 21 Hydroxylase Deficiency and Turner Syndrome

    Science.gov (United States)

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

    2012-01-01

    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. [i][/i]SRY analysis should be performed primarily when signs of virilism are observed. CAH should also be considered in patients with negative [i]SRY[/i]. Conflict of interest:None declared. PMID:23261864

  8. A pharmacogenomic approach to the treatment of children with GH deficiency or Turner syndrome

    Science.gov (United States)

    Clayton, P; Chatelain, P; Tatò, L; Yoo, H W; Ambler, G R; Belgorosky, A; Quinteiro, S; Deal, C; Stevens, A; Raelson, J; Croteau, P; Destenaves, B; Olivier, C

    2013-01-01

    Objective Individual sensitivity to recombinant human GH (r-hGH) is variable. Identification of genetic factors contributing to this variability has potential use for individualization of treatment. The objective of this study was to identify genetic markers and gene expression profiles associated with growth response on r-hGH therapy in treatment-naïve, prepubertal children with GH deficiency (GHD) or Turner syndrome (TS). Design A prospective, multicenter, international, open-label pharmacogenomic study. Methods The associations of genotypes in 103 growth- and metabolism-related genes and baseline gene expression profiles with growth response to r-hGH (cm/year) over the first year were evaluated. Genotype associations were assessed with growth response as a continuous variable and as a categorical variable divided into quartiles. Results Eleven genes in GHD and ten in TS, with two overlapping between conditions, were significantly associated with growth response either as a continuous variable (seven in GHD, two in TS) or as a categorical variable (four more in GHD, eight more in TS). For example, in GHD, GRB10 was associated with high response (≥Q3; P=0.0012), while SOS2 was associated with low response (≤Q1; P=0.006), while in TS, LHX4 was associated with high response (P=0.0003) and PTPN1 with low response (P=0.0037). Differences in expression were identified for one of the growth response-associated genes in GHD (AKT1) and for two in TS (KRAS and MYOD1). Conclusions Carriage of specific growth-related genetic markers is associated with growth response in GHD and TS. These findings indicate that pharmacogenomics could have a role in individualized management of childhood growth disorders. PMID:23761422

  9. TSP-1 Deficiency Alters Ocular Microbiota: Implications for Sjögren's Syndrome Pathogenesis.

    Science.gov (United States)

    Terzulli, Marielle; Contreras-Ruiz, Laura; Ruiz, Laura Contreras; Kugadas, Abirami; Masli, Sharmila; Gadjeva, Mihaela

    2015-09-01

    The potential role of commensals as triggering factors that promote inflammation in dry eye disease has not been explored. The objective of this study was to evaluate whether ocular microbiota changes with the onset of dry eye disease in thrombospondin-1-deficient (TSP-1(-/-)) mice, a strain that develops Sjögren's syndrome-like disease. Conjunctival swabs were collected from TSP-1(-/-) and C57BL/6 mice and analyzed for bacterial presence. Opsonophagocytosis of the bacterial conjunctival isolates derived from the aged TSP-1(-/-) mice by neutrophils derived from either TSP-1(-/-) or C57BL/6 bone marrow was evaluated. The bactericidal activities of TSP-1-derived peptide were examined. We found that in TSP-1(-/-) mice, the conjunctival colonization with Staphylococcus aureus and coagulase negative staphylococci sp (CNS) species was significantly increased with aging and preceded that of the wild-type C57BL/6 control mice. This correlated with increased neutrophil infiltration into the conjunctiva of the TSP-1(-/-) mice, suggesting that TSP-1 plays a significant role in regulating immunity to commensals. Accordingly, the TSP-1(-/-) PMNs opsonophagocytozed the ocular commensals less efficiently than the TSP-1-sufficient neutrophils. Furthermore, a TSP-1-derived peptide, 4N1K, exhibited significant antimicrobial activity when compared to a control peptide against commensal sp. These studies illustrate that alterations in the commensal frequency occur in the early stages of development of Sjögren's-like pathology and suggest that interventions that limit commensal outgrowth such as the use of TSP-1-derived peptides could be used for treatment during the early stages of the disease to reduce the commensal burden and ensuing inflammation.

  10. Risk assessment of obstructive sleep apnea syndrome in pediatric patients with vitamin D deficiency

    Science.gov (United States)

    Ozgurhan, Gamze; Vehapoglu, Aysel; Vermezoglu, Oznur; Temiz, Rabia Nur; Guney, Asuman; Hacihamdioglu, Bulent

    2016-01-01

    Abstract The aim of the following study is to evaluate the risk of obstructive sleep apnea syndrome (OSAS) in subjects with vitamin D deficiency. Prospective and comparative study. We enrolled 240 subjects into the study. The participants were divided into 2 groups based on 25-hydroxyvitamin D (25[OH]D) levels: low level of 25(OH)D (20 ng/mL) group (n = 120). Subjects were classified as being at a high or low risk of developing OSAS by using the Berlin Questionnaire. Risk of developing OSAS, gender, age, and body mass index (BMI) z-score were assessed by comparing the low level of 25(OH)D group and control group. No statistically significant difference was observed between the low level of 25(OH)D group and control group in terms of gender, age, and BMI z-score distributions; P = 0.323, P = 0.387, and P = 0.093, respectively. There were 24 subjects with high risk of developing OSAS in 2 groups (17 subjects in the low level of 25[OH]D group and 7 subjects in the control group). In the low level of 25(OH)D group, the risk of developing OSAS was found to be significantly higher than the control group (P = 0.030). BMI z-score was found significantly higher in high-risk groups than low-risk groups (P = 0.034 for low-level 25[OH]D group and P = 0.023 for control group). The findings revealed that low level of 25(OH)D increases the risk of developing OSAS. PMID:27684795

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

    Science.gov (United States)

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

    1985-03-09

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

  12. Altered relationship of plasma triglycerides to HDL cholesterol in patients with HIV/HAART-associated dyslipidemia: further evidence for a unique form of metabolic syndrome in HIV patients.

    Science.gov (United States)

    Vu, Catherine N; Ruiz-Esponda, Raul; Yang, Eric; Chang, Evelyn; Gillard, Baiba; Pownall, Henry J; Hoogeveen, Ron C; Coraza, Ivonne; Balasubramanyam, Ashok

    2013-07-01

    Plasma triglycerides (TG) and HDL-C are inversely related in Metabolic Syndrome (MetS), due to exchange of VLDL-TG for HDL-cholesteryl esters catalyzed by cholesteryl ester transfer protein (CETP). We investigated the relationship of TG to HDL-C in highly-active antiretroviral drug (HAART)-treated HIV patients. Fasting plasma TG and HDL-C levels were compared in 179 hypertriglyceridemic HIV/HAART patients and 71 HIV-negative persons (31 normotriglyceridemic (NL) and 40 hypertriglyceridemic due to type IV hyperlipidemia (HTG)). CETP mass and activity were compared in 19 NL and 87 HIV/HAART subjects. Among the three groups, a plot of HDL-C vs. TG gave similar slopes but significantly different y-intercepts (9.24±0.45, 8.16±0.54, 6.70±0.65, sqrt(HDL-C) for NL, HIV and HTG respectively; P<0.001); this difference persisted after adjusting HDL-C for TG, age, BMI, gender, glucose, CD4 count, viral load and HAART strata (7.18±0.20, 6.20±0.05 and 4.55±0.15 sqrt(HDL-C) for NL, HIV and HTG, respectively, P<0.001). CETP activity was not different between NL and HIV, but CETP mass was significantly higher in HIV (1.47±0.53 compared to 0.93±0.27μg/mL, P<0.0001), hence CETP specific activity was lower in HIV (22.67±13.46 compared to 28.46±8.24nmol/μg/h, P=0.001). Dyslipidemic HIV/HAART patients have a distinctive HDL-C plasma concentration adjusted for TG. The weak inverse relationship between HDL-C and TG is not explained by altered total CETP activity; it could result from a non-CETP-dependent mechanism or a decrease in CETP function due to inhibitors of CETP activity in HIV patients' plasma. Copyright © 2013 Elsevier Inc. All rights reserved.

  13. Episodes of Guillain-Barré syndrome associated with the acute phase of HIV-1 infection and with recurrence of viremia

    Directory of Open Access Journals (Sweden)

    Castro Gleusa de

    2006-01-01

    Full Text Available We report a severe case of Guillain-Barré syndrome (GBS characterized by flaccid areflexive tetraplegia and signs of autonomic instability related to acute HIV-1 infection, and the occurrence of relapse episodes coinciding with the detection of HIV-1 RNA in blood during the phase of irregular treatment with antiretroviral agents. The patient has been asymptomatic for 3 years and has an HIV-1 load below the limit of detection. The recurrence of GBS in this case may be related to alterations of the immunologic response caused by disequilibrium in the host-HIV relationship due to the increase in HIV-1 viremia.

  14. Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.

    Science.gov (United States)

    Matthijs, G; Schollen, E; Van Schaftingen, E; Cassiman, J J; Jaeken, J

    1998-03-01

    Carbohydrate-deficient-glycoprotein syndrome type 1 (CDG1; also known as "Jaeken syndrome") is an autosomal recessive disorder characterized by defective glycosylation. Most patients show a deficiency of phosphomannomutase (PMM), the enzyme that converts mannose 6-phosphate to mannose 1-phosphate in the synthesis of GDP-mannose. The disease is linked to chromosome 16p13, and mutations have recently been identified in the PMM2 gene in CDG1 patients with a PMM deficiency (CDG1A). The availability of the genomic sequences of PMM2 allowed us to screen for mutations in 56 CDG1 patients from different geographic origins. By SSCP analysis and by sequencing, we identified 23 different missense mutations and 1 single-base-pair deletion. In total, mutations were found on 99% of the disease chromosomes in CDG1A patients. The R141H substitution is present on 43 of the 112 disease alleles. However, this mutation was never observed in the homozygous state, suggesting that homozygosity for these alterations is incompatible with life. On the other hand, patients were found homozygous for the D65Y and F119L mutations, which must therefore be mild mutations. One particular genotype, R141H/D188G, which is prevalent in Belgium and the Netherlands, is associated with a severe phenotype and a high mortality. Apart from this, there is only a limited relation between the genotype and the clinical phenotype.

  15. Increased cardiovascular disease risk in the HIV-positive population on ART: potential role of HIV-Nef and Tat.

    Science.gov (United States)

    Wang, Ting; Yi, Ru; Green, Linden Ann; Chelvanambi, Sarvesh; Seimetz, Michael; Clauss, Matthias

    2015-01-01

    With effective antiretroviral therapy (ART), many HIV-infected people die of diseases other than acquired immune deficiency syndrome (AIDS). In particular, coronary artery disease has emerged as one of most critical complications of HIV infection and a major cause of morbidity and mortality. Although reportedly antiretroviral combination therapy itself may accelerate atherosclerosis by enhancing dyslipidemia, most recent epidemiological studies support the notion that HIV infection itself contributes to cardiovascular disease. However, it is still a mystery how the virus can contribute to cardiovascular disease development even while suppressed by ARTs. This review discusses the current understanding of interactions between HIV infection and cardiovascular diseases in both clinical and experimental studies with special focus on those viral proteins that are still produced by HIV. This will help infectious disease/vascular biology experts to gain insights into the pathophysiological mechanisms of HIV-associated cardiovascular disease and new trends to treat and prevent cardiovascular disease in the HIV-infected population.

  16. Determinan Perilaku Tes HIV pada Ibu Hamil

    Directory of Open Access Journals (Sweden)

    Nanik Setiyawati

    2015-04-01

    pengetahuan tentang HIV dan AIDS, persepsi kerentanan diri dan sikap ibu. Ada hubungan antara PITC, ketersediaan sumber informasi tentang HIV dan AIDS dari keluarga dan kader kesehatan dengan perilaku tes HIV pada ibu hamil. PITC merupakan variabel yang paling berpengaruh terhadap perilaku tes HIV pada ibu hamil. Determinant of HIV Testing Behavior among Pregnant Women Human immunodeficiency virus (HIV and Acquired immune deficiency syndrome (AIDS is one of highlighted issues in accomplishing Millenium Development Goals (MDGs target. Pregnant women with HIV will transmit the virus to their babies. HIV testing is such an opening gate of HIV status that is very important to be conducted on pregnant women. This study aimed to determine the determinant of HIV testing behaviour among pregnant women including education level, knowledge level, perception of selfvulnerability to be HIV-infected, attitudes, Provider-Initiated Testing and Counseling (PITC and availability of information (family and health workers. This study was cross sectional using a survey method. This study was conducted in Mantrijeron and Sleman Primary Health Care that had HIV testing facilities and executed prevention of mother to child transmission program. The subjects of this study were pregnant women visiting such primary health care on August up to October 2014, as much as 54 people. Data collecting used questionnaire. Analysed used were univariate, biviariate, and multivariate. The results showed no relation between educational level, knowledge level about HIV and AIDS, perception of self-vulnerability and attitudes of women.There was a relation between PITC, information source availability about HIV and AIDS from the family and health workers with HIV testing behaviour among pregnant women. PITC is the most influencing variable toward HIV testing behaviour among pregnant women.

  17. Vitamin D deficiency is associated with development of subclinical coronary artery disease in HIV-infected African American cocaine users with low Framingham-defined cardiovascular risk

    Directory of Open Access Journals (Sweden)

    Lai H

    2013-11-01

    Full Text Available Hong Lai,1 Elliot K Fishman,1 Gary Gerstenblith,2 Richard Moore,2 Jeffrey A Brinker,2 Jeanne C Keruly,2 Shaoguang Chen,3 Barbara Detrick,3 Shenghan Lai1–31Department of Radiology, 2Department of Medicine, 3Department of Pathology, Johns Hopkins School of Medicine, Baltimore, MD, USAAbstract: Chronic cocaine use may lead to premature atherosclerosis, but the prevalence of and risk factors for coronary artery disease (CAD in asymptomatic cocaine users have not been reported. The objective of this study was to examine whether vitamin D deficiency is associated with the development of CAD in human immunodeficiency virus (HIV-infected African American cocaine users with low CAD risk.Methods: In this prospective follow-up study, we investigated 169 HIV-infected African American cocaine users with low Framingham risk at baseline. The main outcome measures were incidence of subclinical CAD and development of subclinical CAD.Results: Fifty of the 169 African Americans had evidence of subclinical disease on the initial cardiac computed tomography. A second cardiac computed tomography was performed on the 119 African Americans without disease on the first scan. The total sum of person-years of follow-up was 289.6. Subclinical CAD was detected in 11 of these, yielding an overall incidence of 3.80/100 person-years (95% confidence interval 1.90–6.80. Among the factors investigated, only vitamin D deficiency was independently associated with development of subclinical CAD. The study did not find significant associations between CD4 count, HIV viral load, or antiretroviral treatment use and the incidence of subclinical CAD. This study appears to suggest that there is a threshold level of vitamin D (10 ng/mL above which the effect of vitamin D on subclinical CAD is diminished.Conclusion: The incidence of subclinical CAD in HIV-infected African American cocaine users with low CAD risk is high, especially in those with vitamin D deficiency. Well designed

  18. Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency.

    Science.gov (United States)

    Tiranti, V; Jaksch, M; Hofmann, S; Galimberti, C; Hoertnagel, K; Lulli, L; Freisinger, P; Bindoff, L; Gerbitz, K D; Comi, G P; Uziel, G; Zeviani, M; Meitinger, T

    1999-08-01

    Mutations of SURF-1, a gene located on chromosome 9q34, have recently been identified in patients affected by Leigh syndrome (LS), associated with deficiency of cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain. To investigate to what extent SURF-1 is responsible for human disorders because of COX deficiency, we undertook sequence analysis of the SURF-1 gene in 46 unrelated patients. We analyzed 24 COX-defective patients classified as having typical Leigh syndrome (LS(COX)), 6 patients classified as Leigh-like (LL(COX)) cases, and 16 patients classified as non-LS(COX) cases. Frameshift, stop, and splice mutations of SURF-1 were detected in 18 of 24 (75%) of the LS(COX) cases. No mutations were found in the LL(COX) and non-LS(COX) group of patients. Rescue of the COX phenotype was observed in transfected cells from patients harboring SURF-1 mutations, but not in transfected cell lines from 2 patients in whom no mutations were detected by sequence analysis. Loss of function of SURF-1 protein is specifically associated with LS(COX), although a proportion of LS(COX) cases must be the result of abnormalities in genes other than SURF-1. SURF-1 is the first nuclear gene to be consistently mutated in a major category of respiratory chain defects. DNA analysis can now be used to accurately diagnose LS(COX), a common subtype of Leigh syndrome.

  19. Pancytopenia and cutaneous cryptococcosis as an indicator disease of acquired immune deficiency syndrome

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    R Khuraijam

    2015-01-01

    Full Text Available We present a case of pancytopenia and cutaneous cryptococcosis in a young girl with no complaints of fever, headache and vomiting. Fine-needle aspiration cytology and further investigation for pancytopenia revealed presence of Cryptococcus in skin and bone marrow aspirates. Fungal cultures of the skin aspirates, blood and bone marrow confirmed cryptococcal infection. Counselling and human immunodeficiency virus (HIV test revealed the status of the patient to be retropositive. Although meningitis is the commonest manifestation of cryptococcosis among HIV-infected patients, rare cutaneous manifestation with pancytopenia but with no meningeal signs indicate the HIV status in an endemic area of penicilliosis, Manipur.

  20. The Relationship between Iron Deficiency and Restless Legs Syndrome in Hemodialysis Patients

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    R Ghanei Gheshlagh

    2012-10-01

    Full Text Available Introduction: Restless legs syndrome is a neurological disorder; hemodialysis patients seem to suffer more from this syndrome. Although the pathophysiology of restless legs syndrome is still unknown, assessment of factors associated with this syndrome can help to develop medical knowledge in this field. The present study assessed the relationship between restless legs syndrome, serum iron, and serum ferritin levels in patients on hemodialysis. Methods: This descriptive study was carried out with purposive sampling method on 168 hemodialysis patients who referred to the Urmia Taleghani Hospital Hemodialysis Unit. Data were gathered using restless legs syndrome questionnaire and laboratory Index of serum iron and ferritin. Data were analyzed using descriptive and inferential statistical tests. Results: The study results revealed that 38.7 percent of samples complained from restless legs syndrome whose average score serum iron was 78±29.3 μg. Results showed in hemodialysis patients with restless legs syndrome, serum iron and serum ferritin levels were significantly lower than hemodialysis patients without restless legs syndrome (p=0. 02, p=0.005. Conclusion: Considering the high prevalence of restless legs syndrome in patients with hemodialysis, identification of factors associated with this syndrome and providing the necessary solutions for modifying or eliminating the factors, seem to be necessary. Since the relationship between indicators of iron and ferritin and restless legs syndrome in hemodialysis patients is confirmed, the results can be helpful in the treatment and management of these patients.

  1. Abacavir, an anti-HIV-1 drug, targets TDP1-deficient adult T cell leukemia.

    Science.gov (United States)

    Tada, Kohei; Kobayashi, Masayuki; Takiuchi, Yoko; Iwai, Fumie; Sakamoto, Takashi; Nagata, Kayoko; Shinohara, Masanobu; Io, Katsuhiro; Shirakawa, Kotaro; Hishizawa, Masakatsu; Shindo, Keisuke; Kadowaki, Norimitsu; Hirota, Kouji; Yamamoto, Junpei; Iwai, Shigenori; Sasanuma, Hiroyuki; Takeda, Shunichi; Takaori-Kondo, Akifumi

    2015-04-01

    Adult T cell leukemia (ATL) is an aggressive T cell malignancy caused by human T cell leukemia virus type 1 (HTLV-1) and has a poor prognosis. We analyzed the cytotoxic effects of various nucleoside analog reverse transcriptase inhibitors (NRTIs) for HIV-1 on ATL cells and found that abacavir potently and selectively kills ATL cells. Although NRTIs have minimal genotoxicities on host cells, the therapeutic concentration of abacavir induced numerous DNA double-strand breaks (DSBs) in the chromosomal DNA of ATL cells. DSBs persisted over time in ATL cells but not in other cell lines, suggesting impaired DNA repair. We found that the reduced expression of tyrosyl-DNA phosphodiesterase 1 (TDP1), a repair enzyme, is attributable to the cytotoxic effect of abacavir on ATL cells. We also showed that TDP1 removes abacavir from DNA ends in vitro. These results suggest a model in which ATL cells with reduced TDP1 expression are unable to excise abacavir incorporated into genomic DNA, leading to irreparable DSBs. On the basis of the above mechanism, we propose abacavir as a promising chemotherapeutic agent for ATL.

  2. [FEATURES OF CLINICAL COURSE AND MORPHOMETRIC PARAMETERS OF BENIGN PROSTATIC HYPERPLASIA IN MEN WITH METABOLIC SYNDROME AND ANDROGEN DEFICIENCY].

    Science.gov (United States)

    Tyuzikov, I A; Grekov, E A; Kalinchenko, S Yu

    2015-01-01

    The study was aimed to the evaluation of the effect of the components of the metabolic syndrome (obesity, insulin resistance (IR)) and androgen deficiency on the clinical course of lower urinary tract symptoms against the background of benign prostatic hyperplasia (LUTS/BPH) and nocturia, as well as on some of the parameters of BPH (prostate volume, residual urine volume, total prostate-specific antigen (PSA) blood level). The comprehensive survey of 160 men with LUTS/BPH (mean age 56.7 ± 3.3 years) was performed; based on the results of survey, three comparison groups were formed: Group 1 (n = 70)--patients with isolated obesity; Group 2 (n = 36)--patients with obesity and insulin resistance; and Group 3 (n = 54)--patients with obesity, insulin resistance and androgen deficiency. The control group consisted of 30 patients with LUTS/BPH without these metabolic and hormonal disorders. In patients with LUTS/BPH and obesity, higher frequency of nocturia compared with the control group was revealed (63.7% vs 23.3%; P resistance and androgen deficiency had the highest average prostate volume and residual urine volume compared with those of other groups (P resistance, androgen deficiency are associated pathological conditions, greatly aggravating the clinical course of LUTS/BPH due to adverse impact on the BPH parameters, acting both together and separately. The most severe LUTS/BPH were associated with the presence of all three of the above systemic disorders.

  3. The use of HIV testing in the workplace as the basis for possible unfair discrimination / Lerato Hycenth Thejane

    OpenAIRE

    Thejane, Lerato Hycenth

    2015-01-01

    Human immunodeficiency virus and acquired immune deficiency syndrome (hereafter HIV/AIDS) in South Africa are epidemic virus and disease respectively, item 1.1 of the EEA Code of Good Practice on Key Aspects of HIV/AIDS and Employment, 2000 states that HIV/AIDS are serious public health problems, which have socio-economic, employment and human rights implications on the society, employees inclusive. The Constitution of the Republic of South Africa, 1996, Employment Equity Act 55 of 1998, Labo...

  4. Hubungan Antara Pemuasan Need For Affiliation Dengan Self-Disclosure Pada Orang Dengan Hiv/Aids (Odha)

    OpenAIRE

    Juliana, Sarah Gracyntia

    2017-01-01

    131301087 Human Immunodeficiency Virus (HIV) is a virus which attacks human immune system, whereas Acquired Immune Deficiency Syndrome (AIDS) is condition caused by the infection of HIV. People living with HIV/AIDS (PLWHA) must face complex problems such as worsen physical condition, negative stigma, and discrimination by society. Every PLWHA have a need for affiliation. If the need are fulfilled it will increase health quality. But if not fulfilled it can cause psychological disorder. PLW...

  5. Development and biological function of the female gonads and genitalia in IGF-I deficiency -- Laron syndrome as a model.

    Science.gov (United States)

    Laron, Zvi

    2006-01-01

    Laron syndrome (LS) or primary GH insensitivity is a unique human model to study the effects of congenital IGF-I deficiency. Within our cohort of 63 patients with LS, 15 female patients were regularly followed since birth or infancy, throughout puberty. We observed that they were short at birth, with small genitalia and gonads -- during puberty, developed delayed puberty but eventually reached between 16 and 19 1/2 years full sexual development. Reproduction is unaffected at a young adult age. It is concluded that IGF-I in concert with the sex hormones has a modulatory but not essential function on female sexual development and maturation.

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

    Science.gov (United States)

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

    1986-12-01

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

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

    Science.gov (United States)

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

    2016-12-20

    Blue rubber bleb naevus syndrome (BRBNS) is a rare vascular disorder with malformed veins, or blebs, appearing in the skin or internal organs. Gastrointestinal tract involvement is the most common feature and often subject to bleeding, potentially resulting in chronic occult blood loss and iron deficiency anaemia. We present the case of a 10-year-old boy with venous malformations on the feet and severe anaemia. Although massive sudden haemorrhage rarely occurs, awareness of the illness is necessary to prevent complications. 2016 BMJ Publishing Group Ltd.

  8. PARSONAGE-TURNER SYNDROME: CASE REPORT OF A HIV-SEROPOSITIVE PATIENT.

    Science.gov (United States)

    Oliveira, Saulo Gomes de; Pombo, Eduardo Hosken; Batista, Priscila Rossi de; Cardoso, Igor Machado; Rezende, Rodrigo

    2010-01-01

    Parsonage-Turner Syndrome is a rare disease that affects the musculature of the scapular girdle, leading to muscle atrophy and large motor deficit. The etiology is uncertain, but it is believed that infectious and autoimmune factors are involved. The diagnosis is made by exclusion, and the main differential diagnoses are cervical disc hernias, rotator cuff injuries and rheumatic diseases. During diagnostic investigations, we perform laboratory tests, radiographs and MRI on the shoulders and cervical spine, with emphasis on electroneuromyography to help in making a definitive diagnosis. This case report is presented because it shows a disease that is rarely associated with HIV seropositivity and the importance of early diagnosis for better treatment of these patients.

  9. Thrombotic microangiopathic syndromes associated with drugs, HIV infection, hematopoietic stem cell transplantation and cancer.

    Science.gov (United States)

    George, James N; Terrell, Deirdra R; Vesely, Sara K; Kremer Hovinga, Johanna A; Lämmle, Bernhard

    2012-03-01

    Thrombotic microangiopathy (TMA) has multiple etiologies. In the four disorders described in this review, the primary organ involved is the kidney. Drug-associated TMA can be an acute, immune-mediated disorder or the result of gradual, dose-dependent toxicity. TMA may occur in patients with advanced HIV infection, possibly mediated by angio-invasive infections. TMA following allogeneic hematopoietic stem cell transplantation may also be caused by drug toxicity; the pathogenesis may involve inhibition of vascular endothelial cell growth factor in renal podocytes. Malignancies of many types with systemic microvascular involvement may cause TMA. Recognition that these syndromes may mimic TTP is important to provide appropriate management and to avoid the inappropriate use of plasma exchange treatment.

  10. The effect of HIV, behavioural change, and STD syndromic management on STD epidemiology in sub-Saharan Africa: simulations of Uganda

    NARCIS (Netherlands)

    E.L. Korenromp (Eline); R. Bakker (Roel); R. Gray; M.J. Wawer; D. Serwadda; J.D.F. Habbema (Dik)

    2002-01-01

    textabstractAn assessment was made of how the HIV epidemic may have influenced sexually transmitted disease (STD) epidemiology in Uganda, and how HIV would affect the effectiveness of syndromic STD treatment programmes during different stages of the epidemic. The dynamic

  11. The effect of HIV, behavioural change, and STD syndromic management on STD epidemiology in sub-Saharan Africa: simulations of Uganda

    NARCIS (Netherlands)

    E.L. Korenromp (Eline); R. Bakker (Roel); R. Gray; M.J. Wawer; D. Serwadda; J.D.F. Habbema (Dik)

    2002-01-01

    textabstractAn assessment was made of how the HIV epidemic may have influenced sexually transmitted disease (STD) epidemiology in Uganda, and how HIV would affect the effectiveness of syndromic STD treatment programmes during different stages of the epidemic. The dynamic transmissi

  12. The effect of HIV, behavioural change, and STD syndromic management on STD epidemiology in sub-Saharan Africa: simulations of Uganda

    NARCIS (Netherlands)

    E.L. Korenromp (Eline); R. Bakker (Roel); R. Gray; M.J. Wawer; D. Serwadda; J.D.F. Habbema (Dik)

    2002-01-01

    textabstractAn assessment was made of how the HIV epidemic may have influenced sexually transmitted disease (STD) epidemiology in Uganda, and how HIV would affect the effectiveness of syndromic STD treatment programmes during different stages of the epidemic. The dynamic transmissi

  13. Prevalence of metabolic syndrome among HIV-infected patients in Ghana: A cross-sectional study

    Directory of Open Access Journals (Sweden)

    Christian Obirikorang

    2016-01-01

    Full Text Available Background: Prevalence of metabolic syndrome (MetS in HIV-infected patients is very limited in the Ghanaian setting and may vary across the globe by the different study populations and criteria used. Aim: We investigated the prevalence of MetS among HIV-infected patients receiving highly active antiretroviral therapy (HAART at the St. Dominic Hospital, Akwatia, Ghana. Patients and Methods: This cross-sectional study recruited 433 HIV-infected patients (294 on HAART and 139 HAART-naÏve from the period of February 2013 to December 2013. Information on the demographic, clinical, anthropometric characteristics were obtained and lipid profile for each patient was assessed. MetS was assessed based on the National Cholesterol Education Program (NCEP Adult Treatment Panel III (ATP III, World Health Organization (WHO and International Diabetes Federation (IDF criteria. Results: The prevalence of MetS was 24.5% according to WHO criteria, 48.3% by NCEP-ATP III criteria, and 42.3% by IDF criteria. In general, participants on HAART were significantly associated with higher prevalence of MetS compared to those without HAART (P < 0.05 irrespective of the criteria used. Prevalence of clustering components of MetS was significantly higher among those on HAART when risk scores of 2 and above were used compared with those not on HAART (P < 0.05. Conclusion: HAART recipient developed MetS as indicated by dyslipidemia, high blood pressure, and abnormal body fat. It is incumbent on health giver to incorporate MetS assessment as a part of treatment and management plan in patients receiving HAART.

  14. Prevalence of Metabolic Syndrome Among People Living with HIV in Developing Countries: A Systematic Review.

    Science.gov (United States)

    Naidu, Sivaraj; Ponnampalvanar, Sasheela; Kamaruzzaman, Shahrul Bahyah; Kamarulzaman, Adeeba

    2017-01-01

    Metabolic syndrome (MS) is a group of components associated with cardiovascular disease and type 2 diabetes mellitus. The prevalence of MS in the HIV population is increasing in epidemic proportions globally. However, the magnitude and characteristics of MS are not fully elucidated in developing countries. The aim of this systematic review was to assess the prevalence of MS and its components among people living with HIV (PLWH) in developing countries. Searches were carried out in MEDLINE, Embase, Web of Science, CINAHL, Cochrane Central Register of Controlled Trials, Scopus, other web sources, and by hand search. Articles were restricted to English language studies reporting on the prevalence of MS among PLWH in developing countries. Eighteen articles were included in the review. The studies were divided into Africa, South America, and Asia regions. The most frequent criterion used in the review was the National Cholesterol Education Program: Adult Treatment Program III 2001 definition. The prevalence of MS among PLWH ranged from 8.4% to 47% across the developing regions and comparable to the overall prevalence across the developed regions (7.8-52.2%). The mean prevalence was 30.5%, 21.5%, and 21.4% in Africa, Asia, and South America, respectively. The most frequent component observed was low high-density lipoprotein cholesterol (50.1%). This systematic review provides an essential overview on the distribution of MS in the HIV population across the developing regions. As these prevalences were comparably high in the developed regions, this review highlights the need for more robust research in developing countries.

  15. Psychosocial Correlates of Burnout and Depression in HIV Counselors.

    Science.gov (United States)

    Mirsalimi, Hamid; Roffe, Michael W.

    Job stress in health care professionals who provide care to Acquired Immune Deficiency Syndrome (AIDS) patients has been a subject of interest to a number of health center and hospital physicians, administrators, and to some extent, behavioral scientists. In this study psychosocial correlates of burnout and depression in HIV counselors were…

  16. Associations between physical activity and sedentary time on components of metabolic syndrome among adults with HIV.

    Science.gov (United States)

    Jaggers, Jason R; Prasad, Vivek K; Dudgeon, Wesley D; Blair, Steven N; Sui, Xuemei; Burgess, Stephanie; Hand, Gregory A

    2014-01-01

    Recent data show that people living with HIV/AIDS (PLWHA) are at a greater risk of cardiovascular disease (CVD), which could possibly be explained by an increased prevalence of metabolic syndrome (MetSyn) due to the known toxicities associated with antiretroviral therapy (ART). The purpose of this study is to examine the relationships between physical activity (PA) and components of MetSyn in a sample of PLWHA taking ART. A total of 31 males and 32 females living with HIV and currently taking ART were enrolled in a home-based PA intervention aimed to reduce risk factors for CVD. Clinical assessments included measures of resting blood pressure (BP), waist circumference, height, weight, PA levels via accelerometer, and a fasted blood draw. Components of MetSyn were divided into three clusters (1 = 0-1; 2 = 2; 3 = 3 or more). A one-way analysis of variance was used to determine differences between clusters. Multiple linear regressions were used to identify significant associations between moderate intensity PA (MPA) and sedentary time among components of MetSyn. MPA was significantly lower across MetSyn clusters (p components of MetSyn, thus reducing their risk of CVD and mortality.

  17. RISK FACTORS FOR CARDIOVASCULAR DISEASES IN PATIENTS WITH HIV LIPODYSTROPHIC SYNDROME

    Directory of Open Access Journals (Sweden)

    Claudia Daniele Tavares Dutra

    2012-09-01

    Full Text Available Introduction: Lipodystrophy is quite common in HIV positive patient using antiretroviral therapy (ART. Objective: to investigate the risk factors for cardiovascular diseases (CVD in patients with HIV lipodystrophic syndrome (HIVLS. Methods: Transversal study with adult patients with HIVLS. Social-demographic, anthropometric and risk factors for CVD were collected. Results: 117 patients were studied, being 63.2% male, average age 44.61 (± 9.22. The majority (53,8% presented the mixed form of HIVLS. As for the risk factors for CVD, it was observed that 20.5% of the patients smoked, 46.2% consumed alcoholic beverages, 70.9% were sedentary and 79,5% were dyslipidemic. Hypertension, diabetes and overweight were prevalent in 12.0%, 14.7% and 23.9%, respectively, independently from sex. The analysis of the food consumption has revealed a low consumption of food considered as protectors, just like fruit, vegetables and greens and a high consumption of food considered risky, like meat with apparent fat, chicken with skin, candies and sweets. Conclusion: The patients bearing SLHIV presented a higher risk for CVD, so the participation of the multidisciplinary team on the service for these patients is fundamental, stimulating them to changes in their life styles.

  18. [Immune reconstitution syndrome due to BCG in HIV-treated children].

    Science.gov (United States)

    Miranda-Choque, Edwin; Candela-Herrera, Jorge; R Segura, Eddy; Farfán-Ramos, Sonia; Barriga, Aldo

    2012-01-01

    The objective of this study is to describe the clinical profile of the immune reconstitution syndrome due to Mycobacterium bovis Bacillus Calmette-Guérin (IRS-BCG) in children with HIV infection who receive highly active antiretroviral treatment (HAART) at Instituto Nacional de Salud del Niño de Lima (National Children's Health Institute of Lima), Peru. A case study was conducted, including 8 children with IRS-BCG, defined as the presence of regional lymphadenopathy or inflammation on the BCG vaccination site with at least one less logarithm in the viral load or immune improvement. All patients had AIDS (C3). The starting median age in HAART was 7.2 months and the event occurred 3 to 11 weeks after the treatment was started. 7 cases showed axillary adenitis. When compared with the Non IRS-BCG group, a significant association between the age at which HAART was started at one year, severe immunodepression, and increased viral load was found. It is concluded that IRS-BCG was related to a rapid clinical progression of the mother-to-child transmitted HIV/AIDS infection, severe immunosuppression and high viral load when the HAART began.

  19. The Th17/Treg Immune Balance in Ulcerative Colitis Patients with Two Different Chinese Syndromes: Dampness-Heat in Large Intestine and Spleen and Kidney Yang Deficiency Syndrome

    Directory of Open Access Journals (Sweden)

    Yang Gong

    2015-01-01

    Full Text Available Objective. To investigate the Th17/Treg immune balance in the ulcerative colitis (UC patients with two Chinese syndrome: dampness-heat in large intestine (DHLI and spleen and kidney Yang deficiency (SKYD. Methods. Ninety UC patients (45 were diagnosed with DHLI and 45 with SKYD syndrome and 23 healthy people were recruited. The serumIL-17 and TGF-β1 levels of these participants were measured with ELISA; the expression of IL-17 and TGF-β 1 in colonic mucosa tissue was determined with immunohistochemistry and the percentage of Th17 and Treg in peripheral blood with flow cytometry. Results. The levels of IL-17 and Th17 were significantly higher in both DHLI and SKYD groups than in healthy control group and higher in DHLI than in SKYD group (P<0.05. The levels of TGF-β1 and Treg were significantly lower in the two UC patients groups than in healthy control group; and lower in SKYD group than in DHLI group (P<0.05. Conclusions. UC with DHLI syndrome could be characterized by the elevation of Th17 and IL-17 levels, which indicated an accentuation of inflammatory reaction; UC with SKYD syndrome could be characterized by the reduction of serum Treg and TGF-β1 levels, which represented a depression of immune tolerance.

  20. Immune reconstitution inflammatory syndrome presenting as chylothorax in a patient with HIV and Mycobacterium tuberculosis coinfection: a case report

    Directory of Open Access Journals (Sweden)

    Chen Yen-Hsu

    2010-11-01

    Full Text Available Abstract Background Patients with human immunodeficiency virus (HIV infection are at risk for Mycobacterium tuberculosis (TB coinfection. The advent of antiretroviral therapy restores immunity in HIV-infected patients, but predisposes patients to immune reconstitution inflammatory syndrome (IRIS. Case Presentation A 25-year-old HIV-infected male presented with fever, productive cough, and body weight loss for 2 months. His CD4 cell count was 11 cells/μl and HIV-1 viral load was 315,939 copies/ml. Antituberculosis therapy was initiated after the diagnosis of pulmonary TB. One week after antituberculosis therapy, antiretroviral therapy was started. However, multiple mediastinal lymphadenopathies and chylothorax developed. Adequate drainage of the chylothorax, suspension of antiretroviral therapy, and continued antituberculosis therapy resulted in successful treatment and good outcome. Conclusions Chylothorax is a rare manifestation of TB-associated IRIS in HIV-infected patients. Careful monitoring for development of IRIS during treatment of HIV-TB coinfection is essential to minimize the associated morbidity and mortality.

  1. Role of Mitochondria in HIV Infection and Associated Metabolic Disorders: Focus on Nonalcoholic Fatty Liver Disease and Lipodystrophy Syndrome

    Directory of Open Access Journals (Sweden)

    P. Pérez-Matute

    2013-01-01

    Full Text Available Highly active antiretroviral therapy (HAART has considerably improved the prognosis of HIV-infected patients. However, prolonged use of HAART has been related to long-term adverse events that can compromise patient health such as HIV-associated lipodystrophy syndrome (HALS and nonalcoholic fatty liver disease (NAFLD. There is consistent evidence for a central role of mitochondrial dysfunction in these pathologies. Nucleotide reverse transcriptase inhibitors (NRTIs have been described to be mainly responsible for mitochondrial dysfunction in adipose tissue and liver although nonnucleoside transcriptase inhibitors (NNRTIs or protease inhibitors (PIs have also showed mitochondrial toxicity, which is a major concern for the selection and the long-term adherence to a particular therapy. Several mechanisms explain these deleterious effects of HAART on mitochondria, and evidence points to other mechanisms beyond the “Pol-γ hypothesis.” HIV infection has also direct effects on mitochondria. In addition to the negative effects described for HIV itself and/or HAART on mitochondria, HIV-infected patients are more prone to develop a premature aging and, therefore, to present an increased oxidative state that could lead to the development of these metabolic disturbances observed in HIV-infected patients.

  2. Lactobacillus-Deficient Cervicovaginal Bacterial Communities Are Associated with Increased HIV Acquisition in Young South African Women.

    Science.gov (United States)

    Gosmann, Christina; Anahtar, Melis N; Handley, Scott A; Farcasanu, Mara; Abu-Ali, Galeb; Bowman, Brittany A; Padavattan, Nikita; Desai, Chandni; Droit, Lindsay; Moodley, Amber; Dong, Mary; Chen, Yuezhou; Ismail, Nasreen; Ndung'u, Thumbi; Ghebremichael, Musie S; Wesemann, Duane R; Mitchell, Caroline; Dong, Krista L; Huttenhower, Curtis; Walker, Bruce D; Virgin, Herbert W; Kwon, Douglas S

    2017-01-17

    Elevated inflammation in the female genital tract is associated with increased HIV risk. Cervicovaginal bacteria modulate genital inflammation; however, their role in HIV susceptibility has not been elucidated. In a prospective cohort of young, healthy South African women, we found that individuals with diverse genital bacterial communities dominated by anaerobes other than Gardnerella were at over 4-fold higher risk of acquiring HIV and had increased numbers of activated mucosal CD4(+) T cells compared to those with Lactobacillus crispatus-dominant communities. We identified specific bacterial taxa linked with reduced (L. crispatus) or elevated (Prevotella, Sneathia, and other anaerobes) inflammation and HIV infection and found that high-risk bacteria increased numbers of activated genital CD4(+) T cells in a murine model. Our results suggest that highly prevalent genital bacteria increase HIV risk by inducing mucosal HIV target cells. These findings might be leveraged to reduce HIV acquisition in women living in sub-Saharan Africa.

  3. Interventions to screen for human immune-deficiency virus among people donating blood[Protocol]%献血员人类免疫缺陷病毒(HIV)筛检措施的系统评价的研究方案

    Institute of Scientific and Technical Information of China (English)

    王莉; 刘建平; 熊玮; 邝璞; 陶铁军

    2002-01-01

    背景艾滋病(AIDS)已经成为人类目前所面临的危害最为严重的疾病之一.艾滋病病毒(HIV)主要有三个传播途径:血液、性行为和母婴垂直传播;而通过输血传播的效率更高.由于缺乏有效的HIV筛检方法或方法应用不当以及缺乏严格的管理,通过输血传播HIV的危险极为严重,特别是在一些发展中国家.自从1985年FDA批准第一个HIV试剂用于献血员筛检以来,迄今已经生产出第4代筛检试剂.最初HIV检测试剂仅用于筛检献血员,后来成为了HIV预防工作的重要方面.目前HIV筛检已被视为国家艾滋病预防和治疗策略的重要内容. 目的评价用于献血员HIV筛检所有方法的有效性,从而找出最合适的方法,以减少HIV通过输血传播的危险. 检索策略以"HIV"、"AIDS"、"screening"、"test"、"blood donor"、"blood bank"等为主题,检索了MEDLINE、CENTRAL/CCTR、AIDSLINE、EMBASE、CBM等数据库;同时检索了WHO、UNAIDS、CDC、FDA及其相关网站,并与该领域的专家和机构联系,以获得未发表的文献. 资料纳入标准纳入了所有与献血员HIV筛检方法有关的随机对照试验(RCT)、临床对照试验(CCT);同时一些观察性研究,如队列研究、病例对照研究和历史对照研究等纳入用于敏感性分析. 评价方法参照Cochrane 系统评价的原则,选择纳入的研究,并对其进行质量评价、数据提取和分析.%Background AIDS (acquired immune deficiency syndrome) has become the most devastating disease which humankind has ever encountered.Human immune-deficiency virus(HIV) is transmitted through blood, sexual behavior and mother-to-baby, with more efficient transmission through blood transfusion. HIV risk among blood transfusion was severe due to lack of effective and correctly applied screening method and rigorous management, especially in some developing countries. Since the first HIV screening reagent was approved by FDA to screen the blood in 1985

  4. Impaired signaling via the high-affinity IgE receptor in Wiskott-Aldrich syndrome protein-deficient mast cells.

    Science.gov (United States)

    Pivniouk, Vadim I; Snapper, Scott B; Kettner, Alexander; Alenius, Harri; Laouini, Dhafer; Falet, Hervé; Hartwig, John; Alt, Frederick W; Geha, Raif S

    2003-12-01

    Wiskott-Aldrich syndrome protein (WASP) is the product of the gene deficient in boys with X-linked Wiskott-Aldrich syndrome. We assessed the role of WASP in signaling through the high-affinity IgE receptor (FcepsilonRI) using WASP-deficient mice. IgE-dependent degranulation and cytokine secretion were markedly diminished in bone marrow-derived mast cells from WASP-deficient mice. Upstream signaling events that include FcepsilonRI-triggered total protein tyrosine phosphorylation, and protein tyrosine phosphorylation of FcepsilonRIbeta and Syk were not affected by WASP deficiency. However, tyrosine phosphorylation of phospholipase Cgamma and Ca(2+) mobilization were diminished. IgE-dependent activation of c-Jun N-terminal kinase, cell spreading and redistribution of cellular F-actin in mast cells were reduced in the absence of WASP. We conclude that WASP regulates FcepsilonRI-mediated granule exocytosis, cytokine production and cytoskeletal changes in mast cells.

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

    Science.gov (United States)

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

    2015-06-01

    Human phenotypes that are highly susceptible to radiation carcinogenesis have been identified. Sensitive phenotypes often display robust regulation of molecular features that modify biological response, which can facilitate identification of the pathways/networks that contribute to pathophysiological outcomes. Here we interrogate primary dermal fibroblasts isolated from Gorlin syndrome patients (GDFs), who display a pronounced inducible tumorigenic response to radiation, in comparison to normal human dermal fibroblasts (NHDFs). Our approach exploits newly developed thiol reactive probes to define changes in protein thiol profiles in live cell studies, which minimizes artifacts associated with cell lysis. Redox probes revealed deficient expression of an apparent 55 kDa protein thiol in GDFs from independent Gorlin syndrome patients, compared with NHDFs. Proteomics tentatively identified this protein as aldehyde dehydrogenase 1A1 (ALDH1A1), a key enzyme regulating retinoic acid synthesis, and ALDH1A1 protein deficiency in GDFs was confirmed by Western blot. A number of additional protein thiol differences in GDFs were identified, including radiation responsive annexin family members and lamin A/C. Collectively, candidates identified in our study have plausible implications for radiation health effects and cancer susceptibility.

  6. Pathological and behavioral manifestations of the “Cayuga syndrome,” a thiamine deficiency in larval landlocked Atlantic salmon

    Science.gov (United States)

    Fisher, Jeffrey P.; Spitsbergen, Jan M.; Iamonte, Tina; Little, Edward E.; DeLonay, Aaron

    1995-01-01

    The “Cayuga syndrome” is a maternally transmitted, naturally occurring thiamine deficiency that causes 100% mortality of larval landlocked Atlantic salmon Salmo salar in several of New York's Finger Lakes, Results of multiyear studies to qualify and quantify the neurobehavioral and gross pathological signs of this condition are described, Affected sac fry became weak and ataxic and responded atypically to stimuli 1–2 weeks before death. Quantitative assays of stimulus-provoked swimming revealed a significant neuropathy whereby the sac fry exhibited abnormal thigmotactic and phototactic behaviors. Gross lesions observed in Cayuga sac fry included yolk-sac opacities, subcutaneous edema, vitelline hemorrhage or congestion, pericardial edema, retrobulbar edema, branchial congestion, foreshortened maxillae, hydrocephalus, and occasional caudal fin deformities, Lesion frequency in progeny differed significantly between dam source. Yolk conversion efficiency was decreased at least 1 week before death, suggesting that the bioenergetics of the fish was compromised and thereby supporting the thiamine residue and treatment data reported elsewhere, Comparisons with coagulated-yolk, blue-sac and swim-up syndromes are presented, The pathological signs of the Cayuga syndrome represent a unique departure from the lesions induced by toxicants or pathogens in other piscine models, and for the first time profile the profound effects of thiamine deficiency on cardiovascular and neurological systems of larval fish.

  7. A three-year-old boy with glucose transporter type 1 deficiency syndrome presenting with episodic ataxia.

    Science.gov (United States)

    Ohshiro-Sasaki, Akiko; Shimbo, Hiroko; Takano, Kyoko; Wada, Takahito; Osaka, Hitoshi

    2014-01-01

    Glucose transporter type 1 deficiency syndrome is a metabolic encephalopathy that results from impaired glucose transport into the brain as the result of a mutation of the SLC2A1 gene. It has been recognized recently that these patients can present with a much broader clinical spectrum than previously thought. We describe a 3-year-old boy presenting with episodic ataxia. Our patient exhibited periodic abnormal eye movements, including opsoclonus, since he was 4 months of age. At 2 years of age, he experienced acute cerebellar ataxia after a vaccination. Since then, he has had periodic attacks of ataxic gait, repeated vomiting, and abnormal eye movement. He was diagnosed as having episodic ataxia type 2 because the administration of acetazolamide seemed effective. By 3 years and 10 months of age, he exhibited mild mental retardation and mild trunk ataxia. The attacks were more likely to occur when he was hungry. Molecular analysis revealed that the SLC2A1 gene had a de novo mutation of heterozygous seven nucleotide insertion within exon 7, resulting in a frameshift. He has recently begun a modified Atkins diet; the frequency of attacks has been reduced, and his psychomotor and language skills have begun to develop. Glucose transporter type 1 deficiency syndrome should be considered in the differential diagnosis in children with episodic ataxia, even if acetazolamide is effective. Copyright © 2014 Elsevier Inc. All rights reserved.

  8. A severe H7N9 pneumonia with syndrome of inappropriate antidiuresis and vitamin D deficiency

    Directory of Open Access Journals (Sweden)

    Leng Lin

    2014-01-01

    Conclusions: Some H7N9 pneumonia could cause SIAD. Early detection and appropriate treatment of SIAD in H7N9 pneumonia might be important. Our patient showed vitamin D deficiency and decline of cellular immune function.

  9. Relationship between metabolic syndrome and multinodular non-toxic goiter in an inpatient population from a geographic area with moderate iodine deficiency.

    Science.gov (United States)

    Rendina, D; De Filippo, G; Mossetti, G; Zampa, G; Muscariello, R; Benvenuto, G; Vivona, C L; Ippolito, S; Galante, F; Lombardi, G; Biondi, B; Strazzullo, P

    2012-04-01

    Obesity and insulin resistance predispose individuals to the development of both metabolic syndrome and non-toxic nodular thyroid diseases. The aim of this observational, cross-sectional study is to evaluate the relationship between metabolic syndrome and multinodular nontoxic goiter in an inpatient population from a geographic area with moderate iodine deficiency. We examined 1422 Caucasian euthyroid inpatients. Thyroid volume was determined by ultrasound of the neck. A fine-needle aspiration biopsy was performed to evaluate single thyroid nodules and dominant nodules ≥15 mm in euthyroid multinodular goiter. The diagnosis of metabolic syndrome was made according to the criteria of the American Heart Association/ National Heart, Lung, and Blood Institute. Of the sample, 277 patients had clinical evidence of multinodular nontoxic goiter, 461 met the criteria for the diagnosis of metabolic syndrome, and 132 were found to have both conditions. After adjusting for age, gender, body mass index, nicotinism, parity, alcohol intake, thyroid function, and metabolic syndrome- related pharmacological treatment, metabolic syndrome was found to be an independent risk factor for the occurrence of multinodular non-toxic goiter. The relationship between metabolic syndrome and multi nodular non-toxic goiter was apparent in both men and women. In this study of euthyroid inpatients, we demonstrate that metabolic syndrome is an independent risk factor for the occurrence of multinodular non-toxic goiter in a geographic area with moderate iodine deficiency. We propose that patients meeting the criteria for metabolic syndrome should be screened for the presence of multinodular non-toxic goiter.

  10. Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome.

    Directory of Open Access Journals (Sweden)

    Tom Stiff

    Full Text Available Mutations in ORC1, ORC4, ORC6, CDT1, and CDC6, which encode proteins required for DNA replication origin licensing, cause Meier-Gorlin syndrome (MGS, a disorder conferring microcephaly, primordial dwarfism, underdeveloped ears, and skeletal abnormalities. Mutations in ATR, which also functions during replication, can cause Seckel syndrome, a clinically related disorder. These findings suggest that impaired DNA replication could underlie the developmental defects characteristic of these disorders. Here, we show that although origin licensing capacity is impaired in all patient cells with mutations in origin licensing component proteins, this does not correlate with the rate of progression through S phase. Thus, the replicative capacity in MGS patient cells does not correlate with clinical manifestation. However, ORC1-deficient cells from MGS patients and siRNA-mediated depletion of origin licensing proteins also have impaired centrosome and centriole copy number. As a novel and unexpected finding, we show that they also display a striking defect in the rate of formation of primary cilia. We demonstrate that this impacts sonic hedgehog signalling in ORC1-deficient primary fibroblasts. Additionally, reduced growth factor-dependent signaling via primary cilia affects the kinetics of cell cycle progression following cell cycle exit and re-entry, highlighting an unexpected mechanism whereby origin licensing components can influence cell cycle progression. Finally, using a cell-based model, we show that defects in cilia function impair chondroinduction. Our findings raise the possibility that a reduced efficiency in forming cilia could contribute to the clinical features of MGS, particularly the bone development abnormalities, and could provide a new dimension for considering developmental impacts of licensing deficiency.

  11. Evans syndrome and antibody deficiency: an atypical presentation of chromosome 22q11.2 deletion syndrome

    Directory of Open Access Journals (Sweden)

    Gloria Colarusso

    2010-06-01

    Full Text Available We report a case of an 8-year-old male patient with Evans syndrome and severe hypogammaglobulinemia, subsequently in whom the 22q11.2 deletion syndrome (22q11.2 DS was diagnosed. No other clinical sign of 22q11.2 DS was present with the exception of slight facial dysmorphism. The case is of particular interest because it suggests the need to research chromosome 22q11.2 deletion in patients who present with autoimmune cytopenia and peculiar facial abnormalities, which could be an atypical presentation of an incomplete form of 22q11.2 DS.

  12. Evans syndrome and antibody deficiency: an atypical presentation of chromosome 22q11.2 deletion syndrome.

    Science.gov (United States)

    Colarusso, Gloria; Gambineri, Eleonora; Lapi, Elisabetta; Casini, Tommaso; Tucci, Fabio; Lippi, Francesca; Azzari, Chiara

    2010-09-06

    We report a case of an 8-year-old male patient with Evans syndrome and severe hypogammaglobulinemia, subsequently in whom the 22q11.2 deletion syndrome (22q11.2 DS) was diagnosed. No other clinical sign of 22q11.2 DS was present with the exception of slight facial dysmorphism. The case is of particular interest because it suggests the need to research chromosome 22q11.2 deletion in patients who present with autoimmune cytopenia and peculiar facial abnormalities, which could be an atypical presentation of an incomplete form of 22q11.2 DS.

  13. The hyperimmunoglobulin E syndrome - clinical manifestation diversity in primary immune deficiency

    Directory of Open Access Journals (Sweden)

    Szczawinska-Poplonyk Aleksandra

    2011-11-01

    Full Text Available Abstract The hyper-IgE syndromes are rare, complex primary immunodeficiencies characterized by clinical manifestation diversity, by particular susceptibility to staphylococcal and mycotic infections as well as by a heterogeneous genetic origin. Two distinct entities - the classical hyper-IgE syndrome which is inherited in an autosomal dominant pattern and the autosomal recessive hyper-IgE syndrome have been recognized. The autosomal dominant hyper-IgE syndrome is associated with a cluster of facial, dental, skeletal, and connective tissue abnormalities which are not observable in the recessive type. In the majority of affected patients with autosomal dominant hyper-IgE syndrome a mutation in the signal transducer and the activator of the transcription 3 gene has been identified, leading to an impaired Th17 cells differentiation and to a downregulation of an antimicrobial response. A mutation in the dedicator of the cytokinesis 8 gene has been identified as the cause of many cases with autosomal recessive hyper-IgE syndrome and, in one patient, a mutation in tyrosine kinase 2 gene has been demonstrated. In this paper, the authors provide a review of the clinical manifestations in the hyper-IgE syndromes with particular emphasis on the diversity of their phenotypic expression and present current diagnostic guidelines for these diseases.

  14. Questões invisíveis e as histórias contadas por jovens: deficiência intelectual e vulnerabilidade ao HIV/aids

    OpenAIRE

    2010-01-01

    O presente estudo, de natureza qualitativa, teve como objetivo conhecer e analisar os aspectos que influenciam na vulnerabilidade ao HIV/aids, nos três eixos: individual, social e programático, de jovens com deficiência intelectual, acima de 18 anos, por intermédio de relatos individuais de suas vidas e cotidiano. Vulnerabilidade é o movimento de considerar a chance de exposição das pessoas ao adoecimento como resultante de um conjunto de aspectos não apenas individuais, mas também coletivos,...

  15. Effectiveness of School-based Education on HIV/AIDS Knowledge, Attitude, and Behavior among Secondary School Students in Wuhan, China

    OpenAIRE

    Xiaohui Gao; Yu Wu; Yu Zhang; Naixing Zhang; Jie Tang; Jun Qiu; Xiaofang Lin; Yukai Du

    2012-01-01

    BACKGROUND: Human immunodeficiency virus (HIV) and acquired immune deficiency syndrome (AIDS) are among the most complex health problems in the world. Young people are at high risk of HIV and AIDS infections and are, therefore, in need of targeted prevention. School-based HIV/AIDS health education may be an effective way to prevent the spread of AIDS among adolescents. METHODS: The study was a school-based intervention conducted in three middle schools and two high schools in Wuhan, China, wh...

  16. Effect of Qiju Dihuang pill on serum levels of IFN-γ and IL-4 in pregnant women of Gan-Shen Yin deficiency syndrome

    Institute of Scientific and Technical Information of China (English)

    李艳芳

    2014-01-01

    Objective To observe the effect of Qiju Dihuang Pill(QDP)on changes of Chinese medical syndrome types in pregnant women of Gan-Shen yin deficiency syndrome(GSYDS),and to explore the correlation between imbalanced cytokine levels and GSYDS.Methods This was a random controlled trail.A total of 163 pregnant women of GSYDS at 12-16 gestational weeks were randomly allo-

  17. Differential expression of Werner and Bloom syndrome genes in the peripheral blood of HIV-1 infected patients.

    Science.gov (United States)

    Bordi, Licia; Gioia, Cristiana; Lalle, Eleonora; Piselli, Pierluca; Poccia, Fabrizio; Capobianchi, Maria R; Amendola, Alessandra

    2007-02-01

    Human immunodeficiency virus (HIV)-induced immunodeficiency and immune-system aging share some analogies. Since Werner (WRN) and Bloom (BLM) helicases are crucial in cell repair and aging, their peripheral blood mononuclear cells (PBMC) mRNA levels were compared in HIV-1 infected patients and in normal donors. The mean levels of WRN mRNA were 3.7-fold higher in PBMCs from HIV-1 infected individuals in comparison to healthy donors, whereas BLM mRNA mean levels were slightly higher, although not significantly. WRN increase was positively correlated to CD4 and CD8 T-cell numbers, and also the percentage of naive T lymphocytes, and was observed also in T-cell subsets. Interestingly, a general trend toward increased WRN mRNA levels in individuals with lower viral load was observed, without association with patient age, time of seroconversion, and on/off antiretroviral therapy regimen. On the whole, this study shows that WRN and BLM are differentially modulated in HIV infection, as WRN--but not BLM--is significantly increased, suggesting that mechanisms different from defect or loss of helicase function, observed in WRN and BLM syndromes, may be at the basis of T-cell aging in HIV infection.

  18. Prevalence and Predictors of Thyroid Dysfunction in Patients with HIV Infection and Acquired Immunodeficiency Syndrome: An Indian Perspective

    Directory of Open Access Journals (Sweden)

    Neera Sharma

    2015-01-01

    Full Text Available Background. Predictors of thyroid dysfunction in HIV are not well determined. This study aimed to determine the prevalence and predictors of thyroid dysfunction in HIV infected Indians. Methods. Consecutive HIV patients, 18–70 years of age, without any severe comorbid state, having at least 1-year follow-up at the antiretroviral therapy clinic, underwent clinical assessment and hormone assays. Results. From initially screened 527 patients, 359 patients (61.44±39.42 months’ disease duration, having good immune function [CD4 count >200 cell/mm3: 90.25%; highly active antiretroviral therapy (HAART: 88.58%], were analyzed. Subclinical hypothyroidism (ScH was the commonest thyroid dysfunction (14.76% followed by sick euthyroid syndrome (SES (5.29% and isolated low TSH (3.1%. Anti-TPO antibody (TPOAb was positive in 3.90%. Baseline CD4 count had inverse correlation with TPOAb after adjusting for age and body mass index. Stepwise linear regression revealed baseline CD4 count, TPOAb, and tuberculosis to be best predictors of ScH after adjusting for age, weight, duration of HIV, and history of opportunistic fungal and viral infections. Conclusion. Burden of thyroid dysfunction in chronic HIV infection with stable immune function is lower compared to pre-HAART era. Thyroid dysfunction is primarily of nonautoimmune origin, predominantly ScH. Severe immunodeficiency at disease onset, TPOAb positivity, and tuberculosis were best predictors of ScH.

  19. HIV: Past, present and future

    Directory of Open Access Journals (Sweden)

    Harindra V

    2008-01-01

    Full Text Available The origin of acquired immune deficiency syndrome (AIDS and human immunodeficiency virus (HIV has puzzled scientists ever since the illness first came to light in the early 1980s. For over 25 years it has been the subject of fierce debate and the cause of countless arguments. It is now generally accepted that HIV is a descendant of a simian immunodeficiency virus and there are many theories about how this ′zoonosis′ originated and how SIV became HIV in humans. Advances in treatment have steadily reduced the morbidity and mortality associated with HIV infection. However, in the low-income, high-prevalence countries, antiretroviral medication has taken a long time to reach the people who actually need it. Access to medication must greatly improve if millions of deaths are to be avoided. HIV is a preventable disease. Unless great progress is made in prevention, the number of people living with HIV will outstrip the resources available for treatment. The search for effective vaccines and microbicides must therefore be one of the very highest priorities. HIV is a global threat. Action needs to be taken to prevent it killing many more millions than those who have already died. This action needs not only to continue, but to be speeded up considerably.

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

    OpenAIRE

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

    1981-01-01

    The effect on the rate of sister chromatid exchanges (SCEs) in Bloom syndrome fibroblasts by cocultivation with Fanconi anemia and xeroderma pigmentosum fibroblasts and with Bloom syndrome heterozygotes was studied. Cells of Fanconi anemia and xeroderma origin reduced the rate of SCEs in Bloom cells by about 45%-50%, just as control cells do. In contrast, heterozygous Bloom cells reduced the rate of SCEs by only 16%-28%. In absolute figures, Fanconi cells reduced the mean rate of SCE in Bloom...

  1. Pulmonary Thromboembolism in Klinefelter%u2019s Syndrome Patient with Deficient of Protein C

    OpenAIRE

    Mehmet Yigit

    2013-01-01

    Klinefelter syndrome (KS) is a common genetic disorder caused by one or more supernumerary X chromosomes. KS poses an increased risk for venous thromboembolic events such as deep venous thrombosis and pulmonary embolism. Klinefelter syndrome is prone to hypercoagulability due to hormonal imbalance and one or more inherited thrombophilic factors. Therefore, patients with KS having a medical history of venous thromboembolism require chest computed tomographic (CT) images and oral anticoagulatio...

  2. Metabolic syndrome in HIV-infected patients receiving antiretroviral therapy in Latin America

    Directory of Open Access Journals (Sweden)

    C Alvarez

    2010-06-01

    Full Text Available OBJECTIVE: To evaluate the prevalence of and the associated factors for metabolic syndrome (MS among Latin American HIV-infected patients receiving antiretroviral therapy (ART using baseline data from the RAPID II study. METHODS: A longitudinal study to evaluate the metabolic profile, cardiovascular disease (CVD risk and associated treatment practices to reduce this risk has been conducted in seven Latin American countries (the RAPID II study. Adult HIV patients with at least six months of RT were enrolled. MS was defined following ATP-III criteria. Demographic and anthropometric data, serum biochemical and clinical parameters were compared in patients with and without MS using bivariate and multivariate analysis. RESULTS: A total of 4,010 patients were enrolled, 2,963 (74% were males. Mean age (SD was 41.9 (10.0 years. The prevalence of MS was 20.2%. Females had higher prevalence of MS than males (22.7% vs. 19.4%, p = 0.02. MS was driven by high triglycerides, low HDL-cholesterol and high blood pressure (HBP. Patients with MS had higher 10year CVD risk: 22.2% vs. 7.4%, p < 0.001. Age (OR: 1.05 per year, female gender (OR: 1.29, family history of CVD (OR: 1.28, CD4 cell count (OR: 1.09 per 100 cell increase, and protease inhibitor based-ART (OR: 1.33 correlated with MS in the multivariate analysis. CONCLUSIONS: Prevalence of MS in this setting was similar to that reported from developed countries. MS was driven by high triglycerides, low-HDL and HBP, and it was associated with higher risk of CVD. Traditional risk factors, female gender, immune reconstitution, and protease inhibitor based-ART correlated with MS.

  3. Treatment of calcium and vitamin D deficiency in HIV-positive men on tenofovir-containing antiretroviral therapy

    NARCIS (Netherlands)

    Bech, A.; Bentum, P. van; Telting, D.; Gisolf, J.; Richter, C.; Boer, H. de

    2012-01-01

    BACKGROUND: Hypophosphatemia and bone disease are common in HIV-positive (HIV+) patients on tenofovir disoproxil fumarate-containing antiretroviral therapy (TDF-containing ART). The underlying etiology is not completely understood. OBJECTIVE: To examine the effects of treatment of calcium and vitami

  4. Mediterranean diet: the impact on cardiovascular risk and metabolic syndrome in HIV patients, in Lisbon, Portugal

    Directory of Open Access Journals (Sweden)

    Sara Policarpo

    2014-11-01

    Full Text Available Introduction: Metabolic syndrome (MS is common in HIV-infected individuals and it is associated with higher cardiovascular risk (CVR. Mediterranean diet has been associated with a better metabolic control and lower CVR. Materials and Methods: From December 2013 to May 2014, individuals between 18 and 65 years of age, who attended the outpatient HIV Clinic at the University Hospital Santa Maria, Lisbon, were selected. Adherence to Mediterranean diet was evaluated with MedDietScore, a scale from 0 to 55 that punctuates 11 food items according to the frequency of intake. Higher scores represent higher adherence. CVR was assessed using D.A.D tool (classified as low, moderate or high risk. We excluded individuals with opportunistic disease, hospitalized in the past three months or with renal disease diagnosis. All participants gave written informed consent. Results: In the 571 HIV patients included, 67.1% (n=383 were male, 91.6% (n=523 Caucasian, with a mean age of 46.5±8.9 years. Patients were divided in two groups: naïve (7.5%; n=43 or on antiretroviral treatment (ART (92.5%; n=528. Mean length of HIV diagnosis was 6.7±6.5 years (naïve and 13.3±6.1 years (ART; TCD4+ counts were above 500 cel/mm3 in 55.8% (n=24 and 67.6% (n=357 of the patients, respectively. MS was present in 33.9% (n=179 of patients in ART group and 16.3% (n=7 in naïve group. Presence of MS was associated with ART group (OR=2.7; p=0.018. MS was also associated with older age in this group (p=0.000. Overall, mean MedDietScore was 27.3±5.5. Higher score was associated with older age (r=0.319; p=0.000. Naïve patients presented a trend to higher adherence to Mediterranean diet (65.1% vs 51.7% in naïve group; p=0.090. No relation between MS and Mediterranean diet was found. Higher CVR was associated with the presence of MS in the ART group (p=0.001. In this group, individuals with moderate CVR presented higher rates of adherence to Mediterranean diet (p=0.036 when compared to

  5. The IGSF1 deficiency syndrome: Characteristics of male and female patients

    NARCIS (Netherlands)

    S.D. Joustra (Sjoerd); N. Schoenmakers (Nadia); L. Persani (Luca); I. Campi (Irene); E. Bonomi (Elisa); G. Radetti (Giorgio); P. Beck-Peccoz (Paolo); H. Zhu (H.); T.M.E. Davis (Timothy M.); Y. Sun (Y.); E.P. Corssmit (Eleonora); N.M. Appelman-Dijkstra (Natasha); C.A. Heinen (C.); A.M. Pereira (Alberto); A.J. Varewijck (Aimee); J.A.M.J.L. Janssen (Joseph); E. Endert (Erik); R.C.M. Hennekam (Raoul); M.P. Lombardi (Paola); M.M.A.M. Mannens (Marcel); B. Bak (Beata); D.J. Bernard (Daniel); M.H. Breuning (Martijn); K. Chatterjee (Krishna); M.T. Dattani (Mehul); W. Oostdijk (Wilma); N.R. Biermasz; J.M. Wit (Jan); A.S.P. van Trotsenburg (Paul)

    2013-01-01

    textabstractContext: Ig superfamily member1 (IGSF1) deficiency was recently discovered as a novel X-linked cause of central hypothyroidism (CeH) and macro-orchidism. However, clinical and biochemical data regarding growth, puberty, and metabolic outcome, as well as features of female carriers, are s

  6. Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome: a 2- to 5-year follow-up of 15 children enrolled prospectively.

    NARCIS (Netherlands)

    Klepper, J.; Scheffer, H.; Leiendecker, B.; Gertsen, E.; Binder, S.; Leferink, M.; Hertzberg, C.; Nake, A.; Voit, T.; Willemsen, M.A.A.P.

    2005-01-01

    BACKGROUND: GLUT1 deficiency syndrome is caused by impaired glucose transport into the brain resulting in an epileptic encephalopathy, developmental delay, and a complex motor disorder. A ketogenic diet provides an alternative fuel to the brain and effectively restores brain energy metabolism.

  7. Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome: a 2- to 5-year follow-up of 15 children enrolled prospectively.

    NARCIS (Netherlands)

    Klepper, J.; Scheffer, H.; Leiendecker, B.; Gertsen, E.; Binder, S.; Leferink, M.; Hertzberg, C.; Nake, A.; Voit, T.; Willemsen, M.A.A.P.

    2005-01-01

    BACKGROUND: GLUT1 deficiency syndrome is caused by impaired glucose transport into the brain resulting in an epileptic encephalopathy, developmental delay, and a complex motor disorder. A ketogenic diet provides an alternative fuel to the brain and effectively restores brain energy metabolism. METHO

  8. Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome: a 2- to 5-year follow-up of 15 children enrolled prospectively.

    NARCIS (Netherlands)

    Klepper, J.; Scheffer, H.; Leiendecker, B.; Gertsen, E.; Binder, S.; Leferink, M.; Hertzberg, C.; Nake, A.; Voit, T.; Willemsen, M.A.A.P.

    2005-01-01

    BACKGROUND: GLUT1 deficiency syndrome is caused by impaired glucose transport into the brain resulting in an epileptic encephalopathy, developmental delay, and a complex motor disorder. A ketogenic diet provides an alternative fuel to the brain and effectively restores brain energy metabolism. METHO

  9. 肌酸缺乏综合征诊断与治疗%Diagnosis and treatment of creatine deficiency syndrome

    Institute of Scientific and Technical Information of China (English)

    方方; 杨蕾

    2014-01-01

    肌酸缺乏综合征(creatine deficiency syndromes,CDS)是一组影响肌酸合成及转运的先天性遗传代谢性疾病,临床表现为智力缺损、语言发育迟缓、孤独症、癫痫发作、肌张力减退、以锥体外系损害为主的运动障碍和行为问题等.早期诊断并给予肌酸治疗,可改善预后.了解CDS的临床特点,有利于提高临床认识.

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

    Directory of Open Access Journals (Sweden)

    Einat Hershkowitz

    2014-01-01

    Full Text Available 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.

  11. Thiamine deficiency in self-induced refeeding syndrome, an undetected and potentially lethal condition.

    Science.gov (United States)

    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.

  12. Renal Leishmaniasis as Unusual Cause of Nephrotic Syndrome in an HIV Patient

    OpenAIRE

    2012-01-01

    Renal involvement is a rare complication in HIV-1–infected patients leading to various pathologies and clinical symptoms. In addition to the classic HIV-1–associated nephropathy with collapsing-type focal segmental glomerulosclerosis and characteristic tubulocystic changes, which is more common in Afro-American than in Caucasian HIV-1 patients, immune complex GNs such as membranous GN and membranoproliferative GN are particularly common renal manifestations. Besides HIV-1 itself, a number of ...

  13. Effects of physical training for people with HIV-associated lipodystrophy syndrome: a systematic review.

    Science.gov (United States)

    Pedro, Rafael E; Guariglia, Débora A; Peres, Sidney B; Moraes, Solange M

    2017-05-01

    Human immunodeficiency virus-associated lipodystrophy syndrome (HALS) is a major problem among people living with HIV/aids. The exercise training has been used for its treatment; however, the knowledge about benefits and safety still is emerging. The aim was systematically review the literature for physiological, metabolic, immunologic, and morphologic adaptations to aerobic, resistance, and concurrent training in people living with HALS. A search of the Medline, Embase, Cinahl, Lilacs, Scielo, Web of Science, the Cochrane Controlled Trials Register Library and PEDro was performed. The study selection was performed by two blinded researchers follow screening of titles, abstracts, and full-text articles. Therefore, only randomised clinical trials, which investigated the effects of physical training in people with HALS, were included in the present review. The risk of bias was assessed using a Jadad's scale. From the electronic and manual searches, 332 studies were selected by title, 139 abstracts were read and 95 were excluded, leaving 44 studies, which were read in full. After full text examination only five studies were included in the qualitative analyses. The limitations were: heterogeneity in training prescription, nutritional recommendations, and diagnosis of lipodystrophy, small sample size, utilization of methods with questionable validity for assessments. There is no effect of physical training on CD4 cell count. In addition, aerobic and concurrent training improve VO2max, likewise resistance and concurrent training improve muscular strength.

  14. Evaluation of Cellular Phenotypes Implicated in Immunopathogenesis and Monitoring Immune Reconstitution Inflammatory Syndrome in HIV/Leprosy Cases

    Science.gov (United States)

    Giacoia-Gripp, Carmem Beatriz Wagner; Sales, Anna Maria; Nery, José Augusto da Costa; Santos-Oliveira, Joanna Reis; de Oliveira, Ariane Leite; Sarno, Euzenir Nunes; Morgado, Mariza Gonçalves

    2011-01-01

    Background It is now evident that HAART-associated immunological improvement often leads to a variety of new clinical manifestations, collectively termed immune reconstitution inflammatory syndrome, or IRIS. This phenomenon has already been described in cases of HIV coinfection with Mycobacterium leprae, most of them belonging to the tuberculoid spectrum of leprosy disease, as observed in leprosy reversal reaction (RR). However, the events related to the pathogenesis of this association need to be clarified. This study investigated the immunological profile of HIV/leprosy patients, with special attention to the cellular activation status, to better understand the mechanisms related to IRIS/RR immunopathogenesis, identifying any potential biomarkers for IRIS/RR intercurrence. Methods/Principal Findings Eighty-five individuals were assessed in this study: HIV/leprosy and HIV-monoinfected patients, grouped according to HIV-viral load levels, leprosy patients without HIV coinfection, and healthy controls. Phenotypes were evaluated by flow cytometry for T cell subsets and immune differentiation/activation markers. As expected, absolute counts of the CD4+ and CD8+ T cells from the HIV-infected individuals changed in relation to those of the leprosy patients and controls. However, there were no significant differences among the groups, whether in the expression of cellular differentiation phenotypes or cellular activation, as reflected by the expression of CD38 and HLA-DR. Six HIV/leprosy patients identified as IRIS/RR were analyzed during IRIS/RR episodes and after prednisone treatment. These patients presented high cellular activation levels regarding the expression of CD38 in CD8+ cells T during IRIS/RR (median: 77,15%), dropping significantly (p<0,05) during post-IRIS/RR moments (median: 29,7%). Furthermore, an increase of cellular activation seems to occur prior to IRIS/RR. Conclusion/Significance These data suggest CD38 expression in CD8+ T cells interesting tool

  15. Evaluation of cellular phenotypes implicated in immunopathogenesis and monitoring immune reconstitution inflammatory syndrome in HIV/leprosy cases.

    Directory of Open Access Journals (Sweden)

    Carmem Beatriz Wagner Giacoia-Gripp

    Full Text Available BACKGROUND: It is now evident that HAART-associated immunological improvement often leads to a variety of new clinical manifestations, collectively termed immune reconstitution inflammatory syndrome, or IRIS. This phenomenon has already been described in cases of HIV coinfection with Mycobacterium leprae, most of them belonging to the tuberculoid spectrum of leprosy disease, as observed in leprosy reversal reaction (RR. However, the events related to the pathogenesis of this association need to be clarified. This study investigated the immunological profile of HIV/leprosy patients, with special attention to the cellular activation status, to better understand the mechanisms related to IRIS/RR immunopathogenesis, identifying any potential biomarkers for IRIS/RR intercurrence. METHODS/PRINCIPAL FINDINGS: Eighty-five individuals were assessed in this study: HIV/leprosy and HIV-monoinfected patients, grouped according to HIV-viral load levels, leprosy patients without HIV coinfection, and healthy controls. Phenotypes were evaluated by flow cytometry for T cell subsets and immune differentiation/activation markers. As expected, absolute counts of the CD4+ and CD8+ T cells from the HIV-infected individuals changed in relation to those of the leprosy patients and controls. However, there were no significant differences among the groups, whether in the expression of cellular differentiation phenotypes or cellular activation, as reflected by the expression of CD38 and HLA-DR. Six HIV/leprosy patients identified as IRIS/RR were analyzed during IRIS/RR episodes and after prednisone treatment. These patients presented high cellular activation levels regarding the expression of CD38 in CD8+ cells T during IRIS/RR (median: 77,15%, dropping significantly (p<0,05 during post-IRIS/RR moments (median: 29,7%. Furthermore, an increase of cellular activation seems to occur prior to IRIS/RR. CONCLUSION/SIGNIFICANCE: These data suggest CD38 expression in CD8+ T cells

  16. Interhomolog recombination and loss of heterozygosity in wild-type and Bloom syndrome helicase (BLM)-deficient mammalian cells.

    Science.gov (United States)

    LaRocque, Jeannine R; Stark, Jeremy M; Oh, Jin; Bojilova, Ekaterina; Yusa, Kosuke; Horie, Kyoji; Takeda, Junji; Jasin, Maria

    2011-07-19

    Genomic integrity often is compromised in tumor cells, as illustrated by genetic alterations leading to loss of heterozygosity (LOH). One mechanism of LOH is mitotic crossover recombination between homologous chromosomes, potentially initiated by a double-strand break (DSB). To examine LOH associated with DSB-induced interhomolog recombination, we analyzed recombination events using a reporter in mouse embryonic stem cells derived from F1 hybrid embryos. In this study, we were able to identify LOH events although they occur only rarely in wild-type cells (≤2.5%). The low frequency of LOH during interhomolog recombination suggests that crossing over is rare in wild-type cells. Candidate factors that may suppress crossovers include the RecQ helicase deficient in Bloom syndrome cells (BLM), which is part of a complex that dissolves recombination intermediates. We analyzed interhomolog recombination in BLM-deficient cells and found that, although interhomolog recombination is slightly decreased in the absence of BLM, LOH is increased by fivefold or more, implying significantly increased interhomolog crossing over. These events frequently are associated with a second homologous recombination event, which may be related to the mitotic bivalent structure and/or the cell-cycle stage at which the initiating DSB occurs.

  17. Intranasal siRNA administration reveals IGF2 deficiency contributes to impaired cognition in Fragile X syndrome mice

    Science.gov (United States)

    Pardo, Marta; Cheng, Yuyan; Velmeshev, Dmitry; Magistri, Marco; Martinez, Ana; Faghihi, Mohammad A.; Jope, Richard S.; Beurel, Eleonore

    2017-01-01

    Molecular mechanisms underlying learning and memory remain imprecisely understood, and restorative interventions are lacking. We report that intranasal administration of siRNAs can be used to identify targets important in cognitive processes and to improve genetically impaired learning and memory. In mice modeling the intellectual deficiency of Fragile X syndrome, intranasally administered siRNA targeting glycogen synthase kinase-3β (GSK3β), histone deacetylase-1 (HDAC1), HDAC2, or HDAC3 diminished cognitive impairments. In WT mice, intranasally administered brain-derived neurotrophic factor (BDNF) siRNA or HDAC4 siRNA impaired learning and memory, which was partially due to reduced insulin-like growth factor-2 (IGF2) levels because the BDNF siRNA– or HDAC4 siRNA–induced cognitive impairments were ameliorated by intranasal IGF2 administration. In Fmr1–/– mice, hippocampal IGF2 was deficient, and learning and memory impairments were ameliorated by IGF2 intranasal administration. Therefore intranasal siRNA administration is an effective means to identify mechanisms regulating cognition and to modulate therapeutic targets. PMID:28352664

  18. Prevalence, Pathophysiology, and Management of Androgen Deficiency in Men with Metabolic Syndrome, Type 2 Diabetes Mellitus, or Both.

    Science.gov (United States)

    Taylor, Shawn Riser; Meadowcraft, Lindsy M; Williamson, Bobbie

    2015-08-01

    The prevalence of type 2 diabetes mellitus (T2DM) and metabolic syndrome (MetS) has increased in the United States over the past 40 years. These conditions, long linked with many cardiovascular complications, have recently been linked with androgen or testosterone deficiency in men. Several pathophysiologic hypotheses exist regarding this association, with the most widely reported a relationship to obesity and insulin resistance. Several randomized trials have confirmed that when testosterone replacement therapy is given to patients with T2DM, MetS, or both, metabolic parameters such as waist circumference, hemoglobin A1c , and systolic blood pressure are significantly reduced by up to 11 cm, 1.9%, and 23 mm Hg, respectively. This has not, however, resulted in improved cardiovascular outcomes, as evidenced in studies that found increased rates of cardiovascular events following testosterone replacement therapy. In this review, we summarize the relevant literature regarding the pathophysiology and management of androgen deficiency in men with T2DM, MetS, or both.

  19. Empty sella syndrome associated with hormone deficiency in adults; Silla turca vacia asociada a disfuncion hormonal en adultos

    Energy Technology Data Exchange (ETDEWEB)

    Oleaga, L.; Paja, M.; Goni, F.; Grande, J.; Grande, D. [Hospital de Basurto. Bilbao (Spain); Merino, M. [Hospital General Yague (Spain); Delgado, A. [Hospital Marques de Valdecilla. Santander (Spain)

    1999-07-01

    The objective of this study was to correlate the magnetic resonance (MR) images in patients with hormone deficiencies with the clinical data and the hormonal status. We studied 11 cases ef empty sella with different peripheral pituitary deficiencies. Hormone levels were determined according to standard laboratory methods. All the patients underwent MR imaging. The studies were carried out with a 1 Tesla superconducting magnet, using the cranial cavity for transmission and reception. Segittal and coronal T1-weighted spin-echo sequences (TR/TE: 600/15 ms), axial T2-weighted spin-echo sequences (TR/TE: 3,500/19/93 ms) and gadolinium-enhanced (=.2 cc/kg body weight) sagital and coronal T1-weighted spin-echo sequences (TR/TE: 600/15 ms) were employed. Six of the patients presented partial or total hypopituitarism associated with the syndrome of inappropriate antidiuretic hormone secretion (SIADH); there was one case of panhypopituitarism without SIADH and four cases of primary hypothyroidism, there of which were associated with pituitary deficiency, MR imaging revealed five cases of partially empty sella with residual pituitary gland on the sella floor and six cases in which the sella was completely empty. This study also identified six cases of normally situated neurohypophysis, another four in which the neurohypophysis could not be identified and one case of ectopic neurohypophysis. MR imaging is the technique of choice in the study of abnormal hypothalamic-pituitary activity. Empty and partially empty sella should be included among the frequent causes of hypopituitarism, although there is no clear relationship between the degree of adenohypophyseal insufficiency and the degree of atrophy of this system as viewed in MR images. In some cases, this entity may be the radiological sign of a phase in the development of an autoimmune inflammatory process involving the pituitary gland. (Author) 16 refs.

  20. Study of the serotonin transporter (SLC6A4 and BDNF genes in French patients with non syndromic mental deficiency

    Directory of Open Access Journals (Sweden)

    Mignon Laurence

    2010-02-01

    Full Text Available Abstract Background Mental deficiency has been linked to abnormalities in cortical neuronal network connectivity and plasticity. These mechanisms are in part under the control of two interacting signalling pathways, the serotonergic and the brain-derived neurotrophic (BDNF pathways. The aim of the current paper is to determine whether particular alleles or genotypes of two crucial genes of these systems, the serotonin transporter gene (SLC6A4 and the brain-derived neurotrophic factor gene (BDNF, are associated with mental deficiency (MD. Methods We analyzed four functional polymorphisms (rs25531, 5-HTTLPR, VNTR, rs3813034 of the SLC6A4 gene and one functional polymorphism (Val66 Met of the BDNF gene in 98 patients with non-syndromic mental deficiency (NS-MD and in an ethnically matched control population of 251 individuals. Results We found no significant differences in allele and genotype frequencies in the five polymorphisms studied in the SLC6A4 and BDNF genes of NS-MD patients versus control patients. While the comparison of the patterns of linkage disequilibrium (D' in the control and NS-MD populations revealed a degree of variability it did not, however, reach significance. No significant differences in frequencies of haplotypes and genotypes for VNTR/rs3813034 and rs25531/5-HTTLPR were observed. Conclusion Altogether, results from the present study do not support a role for any of the five functional polymorphisms of SLC6A4 and BDNF genes in the aetiology of NS-RM. Moreover, they suggest no epistatic interaction in NS-MD between polymorphisms in BDNF and SLC6A4. However, we suggest that further studies on these two pathways in NS-MD remain necessary.

  1. Aire-deficient mice provide a model of corneal and lacrimal gland neuropathy in Sjögren's syndrome.

    Science.gov (United States)

    Chen, Feeling Y; Lee, Albert; Ge, Shaokui; Nathan, Sara; Knox, Sarah M; McNamara, Nancy A

    2017-01-01

    Sjögren's syndrome (SS) is a chronic, autoimmune exocrinopathy that leads to severe dryness of the mouth and eyes. Exocrine function is highly regulated by neuronal mechanisms but little is known about the link between chronic inflammation, innervation and altered exocrine function in the diseased eyes and exocrine glands of SS patients. To gain a better understanding of neuronal regulation in the immunopathogenesis of autoimmune exocrinopathy, we profiled a mouse model of spontaneous, autoimmune exocrinopathy that possess key characteristics of peripheral neuropathy experienced by SS patients. Mice deficient in the autoimmune regulator (Aire) gene developed spontaneous, CD4+ T cell-mediated exocrinopathy and aqueous-deficient dry eye that were associated with loss of nerves innervating the cornea and lacrimal gland. Changes in innervation and tear secretion were accompanied by increased proliferation of corneal epithelial basal cells, limbal expansion of KRT19-positive progenitor cells, increased vascularization of the peripheral cornea and reduced nerve function in the lacrimal gland. In addition, we found extensive loss of MIST1+ secretory acinar cells in the Aire -/- lacrimal gland suggesting that acinar cells are a primary target of the disease, Finally, topical application of ophthalmic steroid effectively restored corneal innervation in Aire -/- mice thereby functionally linking nerve loss with local inflammation in the aqueous-deficient dry eye. These data provide important insight regarding the relationship between chronic inflammation and neuropathic changes in autoimmune-mediated dry eye. Peripheral neuropathies characteristic of SS appear to be tightly linked with the underlying immunopathological mechanism and Aire -/- mice provide an excellent tool to explore the interplay between SS-associated immunopathology and peripheral neuropathy.

  2. Leukocyte adhesion deficiency syndrome: report on the first case in Chile and South America

    Directory of Open Access Journals (Sweden)

    Rodrigo Vásquez-De Kartzow

    Full Text Available CONTEXT: Adhesion molecule deficiency type 1 is a rare disease that should be suspected in any patient whose umbilical cord presents delay in falling off, and who presents recurrent severe infections. Early diagnostic suspicion and early treatment improve the prognosis. CASE REPORT: The case of a four-month-old boy with recurrent hospitalizations because of severe bronchopneumonia and several episodes of acute otitis media with non-purulent drainage of mucus and positive bacterial cultures is presented. His medical history included neonatal sepsis and delayed umbilical cord detachment. Laboratory studies showed marked leukocytosis with predominance of neutrophils and decreased CD11b and CD18. These were all compatible with a diagnosis of leukocyte adhesion deficiency type I [LAD type 1].

  3. Lipodystrophy syndrome and self-assessment of well-being and physical appearance in HIV-positive patients.

    Science.gov (United States)

    Oette, Mark; Juretzko, Petra; Kroidl, Arne; Sagir, Abdurrahman; Wettstein, Matthias; Siegrist, Johannes; Häussinger, Dieter

    2002-09-01

    The lipodystrophy syndrome (LDS) is a growing problem in human immunodeficiency virus (HIV)-positive patients treated with highly active antiretroviral therapy (HAART). It is characterized by alterations of body composition and metabolic abnormalities. The goal of the study was to investigate attitudes toward health condition, well-being, and individual appearance in relation to LDS. Outpatients between July and October 2000 in an HIV-specialized unit at the University Hospital of Düsseldorf, Germany, underwent clinical evaluation and received a standardized written questionnaire. Of 389 patients eligible for analysis, 313 patients returned completed questionnaires (response rate, 80.5%). LDS was observed in 37.7%; the predominant manifestation was lipoatrophy of the face (32.9%). Individuals with and without LDS did not differ significantly in their attitude to the quality of their health condition and the amount of disturbance of their well-being by HIV infection. Participants with LDS felt recognizable as HIV-positive by physical appearance in 30.1%, compared to 18.3% in patients without LDS (p = 0.027). This difference became more pronounced after adjustment for gender, age, stage of disease, CD4 cell count, and duration of HAART (odds ratio, 2.04, 95%-confidence interval [CI] 1.09-3.84). In conclusion, LDS does not seem to disturb the general attitude toward health condition and well-being. However, patients presenting with lipodystrophy are about twice as likely to feel recognizable as HIV-positive by their physical appearance. LDS may thus be perceived as a characteristic mark of being HIV-positive by affected persons. A stigmatizing effect and social disadvantages may be the consequences.

  4. DNA mismatch repair deficiency in sporadic colorectal cancer and Lynch Syndrome

    OpenAIRE

    Poulogiannis, George; Frayling, Ian; Arends, Mark

    2009-01-01

    Abstract DNA mismatch repair (MMR) deficiency is one of the best understood forms of genetic instability in colorectal cancer (CRC), and is characterised by the loss of function of the MMR pathway. Failure to repair replication-associated errors due to a defective MMR system allows persistence of mismatch mutations all over the genome, but especially in regions of repetitive DNA known as microsatellites, giving rise to the phenomenon of microsatellite instability (MSI). A high freq...

  5. Living with HIV/AIDS

    Science.gov (United States)

    ... destroying the white blood cells that fight infection. AIDS stands for acquired immunodeficiency syndrome. It is the final stage of infection with HIV. Not everyone with HIV develops AIDS. Infection with HIV is serious. But thanks to ...

  6. Posterior Reversible Encephalopathy Syndrome in a Patient with Newly Diagnosed HIV Infection and End Stage Renal Disease.

    Science.gov (United States)

    Kurukumbi, Mohankumar; Castellanos, Maria I; Crawford, Amanda K; Gowdar, Shreyas D; Jayam-Trouth, Annapurni

    2013-01-01

    Posterior reversible encephalopathy syndrome (PRES) is a clinicoradiological syndrome in which patients present with an acute or subacute clinical presentation of seizures, visual disturbances, headache, and altered mental status. The pathophysiology of PRES may be explained by endothelial dysfunction that leads to transudation of fluids and protein, resulting in vasogenic cerebral edema. PRES is typically associated with many conditions such as hypertension, uremia, immunosuppressive drugs, and sepsis. This is a case report of a 39-year-old woman with untreated HIV infection and end-stage renal disease (ESRD) who developed PRES with a normal blood pressure and no other known causes of PRES. Untreated HIV is associated with known endothelial dysfunction and we believe that this, in combination with her untreated end-stage renal disease, contributed to her unique presentation of PRES. Although uncommon in HIV-infected patients and challenging to diagnose, prompt recognition of PRES is critical to provide appropriate care and ensure reversibility of the vasogenic edema seen in PRES.

  7. Posterior Reversible Encephalopathy Syndrome in a Patient with Newly Diagnosed HIV Infection and End Stage Renal Disease

    Directory of Open Access Journals (Sweden)

    Mohankumar Kurukumbi

    2013-01-01

    Full Text Available Posterior reversible encephalopathy syndrome (PRES is a clinicoradiological syndrome in which patients present with an acute or subacute clinical presentation of seizures, visual disturbances, headache, and altered mental status. The pathophysiology of PRES may be explained by endothelial dysfunction that leads to transudation of fluids and protein, resulting in vasogenic cerebral edema. PRES is typically associated with many conditions such as hypertension, uremia, immunosuppressive drugs, and sepsis. This is a case report of a 39-year-old woman with untreated HIV infection and end-stage renal disease (ESRD who developed PRES with a normal blood pressure and no other known causes of PRES. Untreated HIV is associated with known endothelial dysfunction and we believe that this, in combination with her untreated end-stage renal disease, contributed to her unique presentation of PRES. Although uncommon in HIV-infected patients and challenging to diagnose, prompt recognition of PRES is critical to provide appropriate care and ensure reversibility of the vasogenic edema seen in PRES.

  8. Androgen deficiency as a predictor of metabolic syndrome in aging men: an opportunity for intervention?

    Science.gov (United States)

    Kapoor, Dheeraj; Jones, T Hugh

    2008-01-01

    The prevalence of metabolic syndrome is increasing globally and is an important risk factor for the development of cardiovascular disease. Longitudinal population studies have found that low testosterone status in men is a risk factor for the later development of metabolic syndrome. Men with metabolic syndrome and type 2 diabetes mellitus have a higher incidence of hypotestosteronaemia. Furthermore, in men, testosterone levels are inversely associated with the degree of carotid and aortic atherosclerosis. Early interventional, short-term studies have shown that testosterone replacement therapy has a beneficial effect on visceral obesity, insulin sensitivity, glycaemic control and lipid profiles in men with diagnosed hypogonadism with and without diabetes. The effect of testosterone therapy on atherogenesis in men is unknown; however, animal studies have shown that testosterone is atheroprotective and can ameliorate the degree of atherosclerosis. Testosterone is an arterial vasodilator and has been shown to improve myocardial ischaemia in men with coronary artery disease. This review discusses the role that testosterone may play in the pathogenesis of metabolic syndrome in men and also examines the potential role of testosterone replacement therapy in this condition.

  9. Improved survival of TNF-deficient mice during the zymosan-induced multiple organ dysfunction syndrome.

    NARCIS (Netherlands)

    Volman, T.J.H.; Hendriks, T.; Verhofstad, A.A.J.; Kullberg, B.J.; Goris, R.J.A.

    2002-01-01

    The purpose of the study was to investigate the course of the zymosan-induced multiple organ dysfunction syndrome (MODS) in the absence of tumor necrosis factor (TNF) in a murine model. Tumor Necrosis Factor-alpha-lymphotoxin-a knockout (TNF/LT-/-) mice (n = 36) and wild-type (TNF/LT+/+) mice (n =

  10. Pulmonary Thromboembolism in Klinefelter%u2019s Syndrome Patient with Deficient of Protein C

    Directory of Open Access Journals (Sweden)

    Mehmet Yigit

    2013-08-01

    Full Text Available Klinefelter syndrome (KS is a common genetic disorder caused by one or more supernumerary X chromosomes. KS poses an increased risk for venous thromboembolic events such as deep venous thrombosis and pulmonary embolism. Klinefelter syndrome is prone to hypercoagulability due to hormonal imbalance and one or more inherited thrombophilic factors. Therefore, patients with KS having a medical history of venous thromboembolism require chest computed tomographic (CT images and oral anticoagulation therapy for a period of at least six months. A 21 year old, male patient diagnosed with Klinefelter syndrome was presented to the emergency department of our hospital with primary complaints of left lower extremity pain lasting for 2 months. Deep venous thromboembosis (DVT was diagnosed via venous doppler ultrasound and pulmonary thromboembolism in his chest CT images. Following anticoagulation treatment, his symptoms recovered. An endocrinologic test should be ordered in patients having klinefelter syndrome with a medical or familial history of venous thromboembolism as well as additional assessment of innate or acquired thrombophilia should be made.

  11. Clinical characteristics of 275 pediatric cases of acquired immune deficiency syndrome%儿童艾滋病275例临床特点分析

    Institute of Scientific and Technical Information of China (English)

    赵燕; 庞琳; 云鹰; 刘中夫; 张福杰; 豆智慧; 程跃武; 唐志荣; 刘爱文; 彭国平; 乔晓春; 赵红心

    2008-01-01

    Objective To study the clinical characteristic of acquired immune deficiency syndrome (AIDS) patients younger than 15 years old and to explore the influence of human immunodeficiency virus (HIV) infection on them. Methods The clinical information, including demographic profile, clinical stages of the disease, laboratory test results and developmental status were gathered from 275 antiretroviral therapy naive patients. Results Seventy eight point nine percent patients were infected by vertical transmission. Sixteen percent were infected by receiving blood products. The average age was (7.6±3. 7) years, with 5 cases younger than 1 year old, 104 cases ranging from 1 - 5 years and 166 cases elder than 6 years. Seventy point one percent patients were classified as stage 3 or 4 according to World Health Organization definitions. The average CD4 count was ( 137 ± 159 )/μL, ( 304 ± 317 ) /μL and ( 1 246 ± 776 )/μL respectively in children elder than 6 years, ranging from 1 to 5 years and younger than 1 year. One hundred and eighty one cases suffered from anemia on different severity grading. The most common HIV related symdromes included persistent fever, skin damage, persistent diarrhea, oral candidiasis and recurrent upper respiratory tract infection. Among these infected children, 49. 6% showed height lower than x - 2s and 19. 9% showed weight lower than x - 2s. Conclusions Most survival pediatric AIDS patients are elder than 6 years. HIV infection can significantly affect the children's immune system function,growth and development.%目的 研究15岁以下AIDS患者的临床特点,了解HIV对患儿的影响.方法 分析275例即将入选接受高效抗反转录病毒治疗患者的临床资料,对人口学、流行病学、临床分期、实验室特点及生长发育状况进行分析.结果 275例AIDS患者主要以母婴途径传播为主,占78.9%,输血及血制品传播的为16.0%.平均年龄(7.6±3.7)岁,其中1岁以内5例,1~5岁104例,6

  12. Síndrome metabólica e seus componentes em portadores do HIV Metabolic syndrome and its components in HIV-infected individuals

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    Laiz Guedes Lauda

    2011-04-01

    Full Text Available OBJETIVO: Avaliar a prevalência de síndrome metabólica e seus componentes em indivíduos portadores do vírus HIV assistidos em um centro de tratamento especializado em um município do litoral de Santa Catarina. MÉTODOS: Estudo transversal envolvendo 249 indivíduos (130 homens e 119 mulheres, com idades entre 18 e 73 anos. Para definir a síndrome metabólica, utilizaram-se os critérios do National Cholesterol Education Program, conforme recomendação da Sociedade Brasileira de Cardiologia. RESULTADOS: Dentre os avaliados, 20,9% tinham síndrome metabólica, sendo 18,5% dos homens e 23,5% das mulheres, sem associação estatística entre os sexos, sendo que 26,9% apresentavam dois dos componentes da síndrome. Os componentes de maior frequência foram aqueles relacionados ao perfil lipídico (HDL-colesterol inadequado e triglicerídeos elevados, seguidos pela medida da circunferência da cintura aumentada, alterações na pressão arterial e na glicemia de jejum. Encontrou-se associação estatisticamente significativa apenas para o sexo e a circunferência da cintura aumentada. CONCLUSÃO: A prevalência de síndrome metabólica encontrada no presente estudo possivelmente reflete a qualidade do serviço de saúde prestado. Destaca-se a importância da investigação da síndrome metabólica em populações infectadas pelo HIV, contribuindo, assim, para sua maior sobrevida.OBJECTIVE: To assess the prevalence of metabolic syndrome and its components in HIV infected individuals assisted in a specialized health center in a municipality in the state of Santa Catarina, Brazil. METHODS: Cross-sectional study comprising 249 individuals (130 men and 119 women, aged 18 to 73 years. Metabolic syndrome was defined according to the National Cholesterol Education Program, as recommended by the Brazilian Society of Cardiology. RESULTS: Among the individuals who participated in the study, 20.9% had metabolic syndrome - 18.5% of the men and 23.5% of the

  13. A Web-Based System To Enchance The Management Of Acquired Immunodeficiency Syndrome (AIDS/ Human Immunodeficiency Virus (HIV In Nigeria

    Directory of Open Access Journals (Sweden)

    Agbelusi Olutola

    2012-06-01

    Full Text Available Acquired Immunodeficiency Syndrome (AIDS, a global disease, caused by the Human Immunodeficiency Virus (HIV is arguably the greatest health problem of this age and there is need to make first class information on the management of HIV/AIDS available through the use of Web-Based Technology. This paper examined the various ways of contacting HIV and the effort made by Information and Technology to make life easier for people living with the virus in Nigeria. Questionnaires were distributed to Doctors and people living with HIV/AIDS to access their knowledge and belief about the said disease. MySQL was used to generate the database, to store all the vital information about the patients, their Doctors and their complaints. PHP programming for the implementation of the interfaces, Dreamweaver HTML for the design of the web-based application, T-test and Microsoft Excel were used for the analysis of data collected. The study looked into the occupation, age range and the marital status of different categories of people living with the virus. It was discovered that there were quite large numbers of people who are living with the virus.

  14. Impact of Diet-Induced Obesity and Testosterone Deficiency on the Cardiovascular System: A Novel Rodent Model Representative of Males with Testosterone-Deficient Metabolic Syndrome (TDMetS)

    OpenAIRE

    Donner, Daniel G.; Elliott, Grace E.; Belinda R. Beck; Bulmer, Andrew C.; Du Toit, Eugene F

    2015-01-01

    Introduction Current models of obesity utilise normogonadic animals and neglect the strong relationships between obesity-associated metabolic syndrome (MetS) and male testosterone deficiency (TD). The joint presentation of these conditions has complex implications for the cardiovascular system that are not well understood. We have characterised and investigated three models in male rats: one of diet-induced obesity with the MetS; a second using orchiectomised rats mimicking TD; and a third co...

  15. A Spirulina maxima-derived peptide inhibits HIV-1 infection in a human T cell line MT4

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    In-Seung Jang

    2016-11-01

    Full Text Available Abstract Human immunodeficiency virus (HIV is the causative agent of acquired immune deficiency syndrome (AIDS. Anti-HIV agents targeting various steps in HIV life cycle have been developed; however, so far, no effective drugs have been found. We show here that a peptide isolated from Spirulina maxima (SM-peptide inhibits HIV-1 infection in a human T cell line MT4. SM-peptide inhibited HIV-1IIIB-induced cell lysis with a half-maximal inhibitory concentration (IC50 of 0.691 mM, while its 50 % cytotoxic concentration (CC50 was greater than 1.457 mM. Furthermore, the SM-peptide inhibited the HIV-1 reverse transcriptase activity and p24 antigen production. This suggests that SM-peptide is a novel candidate peptide, which may be developed as a therapeutic agent for acquired immunodeficiency syndrome patients.

  16. Infrapatellar bursitis with Mycobacterium malmoense related to immune reconstitution inflammatory syndrome in an HIV-positive patient.

    Science.gov (United States)

    Leth, Steffen; Jensen-Fangel, Søren

    2012-11-27

    The immune reconstitution inflammatory syndrome (IRIS) after starting antiretroviral treatment for HIV infection can be caused by a great variety of pathogens. Among these are non-tuberculous mycobacteria (NTM), with Mycobacterium avium complex being the most commonly described finding. Antimycobacterial treatment of NTM in cases of IRIS is controversial. We report the case of a 39-year-old man diagnosed with HIV-1 infection during admission to hospital with Pneumocystis jirovecii pneumonia (PCP) and a CD4 cell count of 60/μl. The patient started antiretroviral treatment and made an uneventful recovery from the PCP diagnosis, but was readmitted after 2.5 months with a purulent infrapatellar bursitis on the left knee. A surgical procedure was performed and Mycobacterium malmoense was grown from the pus from the bursa. The patient recovered without supplemental antimycobacterial treatment. To our knowledge, this is the first report on IRIS caused by M malmoense.

  17. Immune reconstitution inflammatory syndrome in HIV and sporotrichosis coinfection: report of two cases and review of the literature

    Directory of Open Access Journals (Sweden)

    Marcelo Rosandiski Lyra

    2014-12-01

    Full Text Available We report 2 cases of patients with immune reconstitution inflammatory syndrome (IRIS associated with cutaneous disseminated sporotrichosis and human immunodeficiency virus (HIV coinfection. The patients received specific treatment for sporotrichosis. However, after 4 and 5 weeks from the beginning of antiretroviral therapy, both patients experienced clinical exacerbation of skin lesions despite increased T CD4+ cells (T cells cluster of differentiation 4 positive count and decreased viral load. Despite this exacerbation, subsequent mycological examination after systemic corticosteroid administration did not reveal fungal growth. Accordingly, they were diagnosed with IRIS. However, the sudden withdrawal of the corticosteroids resulted in the recurrence of IRIS symptoms. No serious adverse effects could be attributed to prednisone. We recommend corticosteroid treatment for mild-to-moderate cases of IRIS in sporotrichosis and HIV coinfection with close follow-up.

  18. Posterior Cord Syndrome and Trace Elements Deficiency as an Uncommon Presentation of Common Variable Immunodeficiency

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    Yuri Silva Macedo

    2017-01-01

    Full Text Available Diarrhea is one of the most common symptoms in common variable immunodeficiency, but neurologic manifestations are rare. We presented a 50-year-old woman with recurrent diarrhea and severe weight loss that developed a posterior cord syndrome. Endoscopy found a duodenal villous blunting, intraepithelial lymphocytosis, and lack of plasma cells and magnetic resonance imaging of the spine was normal. Laboratory assays confirmed common variable immunodeficiency syndrome and showed low levels of trace elements (copper and zinc. Treatment was initiated with parenteral replacement of trace elements and intravenous human immunoglobulin and the patient improved clinically. In conclusion, physicians must be aware that gastrointestinal and neurologic disorders may be related to each other and remember to request trace elements laboratory assessment.

  19. Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome.

    Science.gov (United States)

    Dikoglu, Esra; Simsek-Kiper, Pelin Ozlem; Utine, Gulen Eda; Campos-Xavier, Belinda; Boduroglu, Koray; Bonafé, Luisa; Superti-Furga, Andrea; Unger, Sheila

    2013-12-01

    Cousin syndrome, also called pelviscapular dysplasia (OMIM 260660), is characterized by short stature, craniofacial dysmorphism, and multiple skeletal anomalies. Following its description in two sibs in 1982, no new cases have been observed until the observation of two unrelated cases in 2008 who were homozygous for frameshift mutations in TBX15. We investigated an adult individual with short stature, a complex craniofacial dysmorphism, malformed and rotated ears, short neck, elbow contractures, hypoacusis, and hypoplasia of scapula and pelvis on radiographs. We identified homozygosity for a novel nonsense mutation (c.841C>T) in TBX15 predicted to cause a premature stop (p.Arg281*) with truncation of the protein. This observation confirms that Cousin syndrome is a consistent and clinically recognizable phenotype caused by loss of function of TBX15.

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

    OpenAIRE

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

    2013-01-01

    Platelets are anuclear organelle-rich cell fragments derived from bone marrow megakaryocytes (MKs) that safeguard vascular integrity. The major platelet organelles, α-granules, release proteins that participate in thrombus formation and hemostasis. Proteins stored in α-granules are also thought to play a role in inflammation and wound healing, but their functional significance in vivo is unknown. Mutations in NBEAL2 have been linked to gray platelet syndrome (GPS), a rare bleeding disorder ch...

  1. Abnormal heart rate recovery and deficient chronotropic response after submaximal exercise in young Marfan syndrome patients.

    Science.gov (United States)

    Peres, Paulo; Carvalho, Antônio C; Perez, Ana Beatriz A; Medeiros, Wladimir M

    2016-10-01

    Marfan syndrome patients present important cardiac structural changes, ventricular dysfunction, and electrocardiographic changes. An abnormal heart rate response during or after exercise is an independent predictor of mortality and autonomic dysfunction. The aim of the present study was to compare heart rate recovery and chronotropic response obtained by cardiac reserve in patients with Marfan syndrome subjected to submaximal exercise. A total of 12 patients on β-blocker therapy and 13 off β-blocker therapy were compared with 12 healthy controls. They were subjected to submaximal exercise with lactate measurements. The heart rate recovery was obtained in the first minute of recovery and corrected for cardiac reserve and peak lactate concentration. Peak heart rate (141±16 versus 155±17 versus 174±8 bpm; p=0.001), heart rate reserve (58.7±9.4 versus 67.6±14.3 versus 82.6±4.8 bpm; p=0.001), heart rate recovery (22±6 versus 22±8 versus 34±9 bpm; p=0.001), and heart rate recovery/lactate (3±1 versus 3±1 versus 5±1 bpm/mmol/L; p=0.003) were different between Marfan groups and controls, respectively. All the patients with Marfan syndrome had heart rate recovery values below the mean observed in the control group. The absolute values of heart rate recovery were strongly correlated with the heart rate reserve (r=0.76; p=0.001). Marfan syndrome patients have reduced heart rate recovery and chronotropic deficit after submaximal exercise, and the chronotropic deficit is a strong determinant of heart rate recovery. These changes are suggestive of autonomic dysfunction.

  2. Vitamin D Deficiency is Associated with the Metabolic Syndrome in Subjects with Type 2 Diabetes

    Directory of Open Access Journals (Sweden)

    Bahareh Nikooyeh

    2014-09-01

    Conclusions: Our data showed that firstly higher vitamin D status is inversely associated with fasting glycemia, and secondly serum 25(OHD3 predicts MeS risk in the subjects with T2D. Demonstrating the association of hypovitaminosis D with disorders of glucose metabolism and higher risk for development of further complications, notably CVD, may lead to a new target for preventive efforts at the population level. Keywords: Vitamin D, Type 2 diabetes, Metabolic syndrome, Cardiovascular disease

  3. Aldosterone deficiency after unilateral adrenalectomy for Conn’s syndrome: a case report and literature review

    Science.gov (United States)

    Yorke, Ekua; Stafford, Sara; Holmes, Daniel; Sheth, Sachiv; Melck, Adrienne

    2015-01-01

    Introduction Approximately 35% of cases of Conn’s syndrome (primary aldosteronism) result from a solitary functioning adrenal adenoma, and these patients are best managed by adrenalectomy. Postoperative hypoaldosteronism after unilateral adrenalectomy is uncommon. Case presentation We present a case and literature review of hypoaldosteronism after unilateral adrenalectomy for Conn’s syndrome, which demonstrates the insidious and sometimes delayed presentation. Discussion In this clinical case we summarize the previously published cases of post-adrenalectomy hypoaldosteronism based on a PUBMED and EBSCOhost search of all peer-reviewed publications (original articles and reviews) on this topic. A few cases of aldosterone insufficiency post-adrenalectomy for Conn’s syndrome were identified. The etiological factors for prolonged selective suppression of aldosterone secretion after unilateral adrenalectomy remain unclear. Conclusion It is important to be aware of the risk of postoperative hypoaldosteronism in this patient population. Close postoperative follow-up is necessary and strongly recommended, especially in patients with certain risk factors. Patients may need mineralocorticoid supplementation during this period. PMID:25604311

  4. Extracorporeal Membrane Oxygenation for Acute Respiratory Distress Syndrome following HAART Initiation in an HIV-infected Patient Being Treated for Severe Pneumonia: Case Report and Literature Review

    Directory of Open Access Journals (Sweden)

    Dong Won Park

    2016-05-01

    Full Text Available Pnuemocystis jirovecii pneumonia (PJP is one of leading causes of acute respiratory failure in patients infected with human immunodeficiency virus (HIV, and the mortality rate remains high in mechanically ventilated HIV patients with PJP. There are several reported cases who received extracorporeal membrane oxygenation (ECMO treatment for respiratory failure associated with severe PJP in HIV-infected patients. We report a patient who was newly diagnosed with HIV and PJP whose condition worsened after highly active antiretroviral therapy (HAART initiation and progressed to acute respiratory distress syndrome requiring veno-venous ECMO. The patient recovered from PJP and is undergoing treatment with HAART. ECMO support can be an effective life-saving salvage therapy for acute respiratory failure refractory to mechanical ventilation following HAART in HIV-infected patients with severe PJP.

  5. The AIDS Pandemic in Uganda : Social Capital and the Role of NGOs in Alleviating the Impact of HIV/AIDS

    OpenAIRE

    Muriisa, Roberts Kabeba

    2007-01-01

    AIDS has a devastating impact on individuals and society. It is defined as Acquired Immune Deficiency Syndrome and it is a condition caused by the Human Immunodeficiency Virus (HIV). This condition occurs when people who have lived with HIV for a long time lose their immunity and become susceptible to various opportunistic infections. AIDS often results in death. At present, there is neither a vaccine against HIV nor a cure for AIDS. Apart from the numerous deaths it causes, HIV/AIDS has othe...

  6. Responding to HIV and AIDS. A Training Manual for United States Probation Officers. Participant's Edition.

    Science.gov (United States)

    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…

  7. Chylous Ascites in a Patient with HIV/AIDS: A Late Complication of Mycobacterium avium Complex-Immune Reconstitution Inflammatory Syndrome

    Directory of Open Access Journals (Sweden)

    Imam H. Shaik

    2014-01-01

    Full Text Available Chylous ascites is very rare in HIV/AIDS and its association with Mycobacterium avium complex-immune reconstitution inflammatory syndrome (MAC-IRIS has been rarely reported. Here, we report a case of a young African-American male who developed chylous ascites as a late sequela to immune reconstitution inflammatory syndrome while on treatment for MAC. Antiretroviral drug-naive patients who start HAART in close proximity to the diagnosis of an opportunistic infection and have a rapid decline in HIV RNA level should be monitored for development of IRIS. Although the long term prognosis is poor, early diagnosis and treatment help to improve quality of life.

  8. Bilateral Visual Loss as Presenting Symptom of Posterior Reversible Encephalopathy Syndrome in a Patient with HIV/Tuberculosis Coinfection: A Case Report

    Directory of Open Access Journals (Sweden)

    S. Guerriero

    2012-01-01

    Full Text Available Posterior reversible encephalopathy syndrome (PRES is a neurotoxic state accompanied by a unique brain imaging pattern. This cliniconeuroradiological entity usually presents with visual disturbances (cortical blindness, homonymous hemianopia, visual neglect, and blurred vision along with neurotoxic manifestations. Only a few cases of PRES have previously been reported in patients with advanced HIV disease. The authors describe a case of posterior reversible encephalopathy syndrome (PRES in a patient with advanced HIV/TBC infection who developed a neurotoxic state following TB and ART therapy initiation. They present a comprehensive review of the literature and discuss the pathogenetic hypotheses.

  9. Epidemiology of Human Immuno-deficiency Virus and Quality of Life for People Living with HIV/AIDS in China

    Institute of Scientific and Technical Information of China (English)

    Ommari Baaliy Mkangara; Shaofa NIE; Chongjian WANG; Yihua XU; Saumu Tobbi Mweri; Theresia M Kobelo; Mustaafa Bapumiia

    2008-01-01

    HIV/AIDS is increasing in prevalence in China and spread of infection from highly risk populations to the general populations was recognized. Despite the fact, there are still only few scien- tific reviews on quality of life (QOL) for people living with HIV/AIDS (PLWHAs). However, many PLWHAs are struggling with social and psychological influences such as substances abuse, cultural beliefs, depression, stigma, poverty, which can affect their QOL. Public unawareness about infection and disease, willingness to seek medical care and motivation to follow therapy are indirectly influ- encing health outcome. In 2003 Chinese government has established the so-called the "Four Frees and One Care" policy. The policy was officially implemented from 2004 in some areas, yet to date it is not implemented nationwide. This paper discussed the epidemiology of HIV, underlying psychoso- cial factors affecting PLWHAs and their impact on QOL. We put forward some recommendations for stakeholders, advocacy groups, non-government organizations and Chinese government.

  10. Metabolic syndrome before and after initiation of antiretroviral therapy in treatment-naïve HIV-infected individuals

    Science.gov (United States)

    Krishnan, S; Schouten, JT; Atkinson, B; Brown, T; Wohl, D; McComsey, GA; Glesby, MJ; Shikuma, C; Haubrich, R; Tebas, P; Campbell, TB; Jacobson, DL

    2012-01-01

    Background Metabolic syndrome (MetS) is a cluster of risk factors for cardiovascular disease and diabetes, many of which are associated with HIV and antiretroviral therapy (ART). We examined prevalence and incidence of MetS, and risk factors for MetS in ART-naïve HIV-infected individuals starting ART. Methods MetS, defined by the Adult Treatment Panel III criteria, was assessed at and after ART initiation in HIV-infected individuals who enrolled in selected AIDS Clinical Trials Group (ACTG) trials and were followed long-term after these trials as part of the ACTG Longitudinal Linked Randomized Trials cohort. Cox proportional hazards models were used to examine risk factors of incident MetS. Adjusted hazard ratios (aHR) and 95% confidence intervals (CI) are reported. Results At ART initiation, the prevalence of MetS was 20%. After ART initiation, the incidence of MetS was 8.5 per 100 person-years. After adjusting for demographics and body mass index, the risk of MetS was decreased for CD4+ T-cell counts>50 cells/mm3 (aHR = 0.62, 95% CI=0.43 to 0.90 for CD4>500), and the risk was increased for HIV-1 RNA >400 copies/mL (aHR=1.55 (95% CI=1.25 to 1.92) and use of a protease-inhibitor (PI) based regimen (relative to no PI use, aHR=1.25 (95% CI=1.04 to 1.51) for any PI use). Conclusion In HIV-infected individuals on ART, virologic suppression and maintenance of high CD4+ T-cell counts may be potentially modifiable factors that can reduce the risk of MetS. The effect of MetS on the risk of cardiovascular disease and diabetes needs to be evaluated. PMID:22828718

  11. Renal leishmaniasis as unusual cause of nephrotic syndrome in an HIV patient.

    Science.gov (United States)

    Amann, Kerstin; Bogdan, Christian; Harrer, Thomas; Rech, Juergen

    2012-04-01

    Renal involvement is a rare complication in HIV-1-infected patients leading to various pathologies and clinical symptoms. In addition to the classic HIV-1-associated nephropathy with collapsing-type focal segmental glomerulosclerosis and characteristic tubulocystic changes, which is more common in Afro-American than in Caucasian HIV-1 patients, immune complex GNs such as membranous GN and membranoproliferative GN are particularly common renal manifestations. Besides HIV-1 itself, a number of opportunistic infections may cause renal disease in HIV-1-infected patients. In this study, we report an unusual case of HIV-1 infection with a severe renal manifestation of systemic leishmaniasis that developed years after repeated visits to Mediterranean countries. The case presents several remarkable clinical, pathologic, and therapeutic aspects that may be important for daily clinical practice.

  12. Deficiency of 25-hydroxyvitamin D in male HIV-positive patients: a descriptive cross-sectional study

    DEFF Research Database (Denmark)

    Bang, Ulrich Christian; Shakar, Shakil A; Hitz, Mette Friberg;

    2010-01-01

    The aim of this descriptive cross-sectional study was to describe the prevalence of hypovitaminosis D in a cohort of HIV-seropositive males. Blood samples were collected in November and December 2004 and analyzed in the hospital laboratory. The concentration of 25-hydroxyvitamin D (25(OH)D) was d......The aim of this descriptive cross-sectional study was to describe the prevalence of hypovitaminosis D in a cohort of HIV-seropositive males. Blood samples were collected in November and December 2004 and analyzed in the hospital laboratory. The concentration of 25-hydroxyvitamin D (25(OH...

  13. Difference of all gene expression profiles of rat liver between model of deficient cold syndrome and model of deficient heat syndrome%比较虚寒证与虚热证模型大鼠肝全基因表达谱的差异

    Institute of Scientific and Technical Information of China (English)

    韩冰冰; 王世军

    2011-01-01

    Objective To study the difference of all gene expression profiles of rat liver between model of deficient cold syndrome and model of deficient heat syndrome by using gene chip technology. Methods The rat model of deficient cold syndrome or deficient heat syndrome was established through giving TCM compound formulas. The gene expressions in rats of all groups were detected by using gene chips for screening the genes with differential expressions. The genetic function was commented according their classification. The chip results were tested by using fluorescent quantitation polymerase chain reaction (PCR). Results There were 114 genes with differential expressions in comparison between deficient cold model group and deficient heat model group groups, and they involved mainly the genes related to oxidoreductase activity. Oxidoreductase genes rdlated to fat metabolism and cytochrome P450 genes were down-regulated significantly, which indicated that fiat metabolism and bioconversion decreased in rat model of deficient cold syndrome. Conclusion Deficient cold syndrome and deficient heat syndrome, although being deficient syndrome as well, are different in cold and heat symptoms. The abnormal expressions of the genes related to oxidoreductase activity may be the material base of different symptoms in deficient cold syndrome and deficient heat syndrome.%目的 采用基因芯片技术研究虚寒证与虚热证大鼠肝全基因表达谱的差异.方法 使用中药复方虚寒证、虚热证大鼠模型,基因芯片检测各组大鼠基因表达,筛选差异表达基因,进行基因功能分类注释,荧光定量PCR验证芯片结果.结果 虚寒模型组与虚热模型组比较有114条基因差异表达,主要涉及氧化还原酶相关基因.脂代谢相关氧化还原酶基因显著下调,细胞色素P450家族基因显著下调,提示虚寒证模型大鼠脂代谢与生物转化能力的降低.结论 虚寒证与虚热证虽然同为虚证,但有“寒证”和“

  14. Response to intravenous iron in patients with iron deficiency anemia (IDA) and restless leg syndrome (Willis-Ekbom disease).

    Science.gov (United States)

    Mehmood, Tahir; Auerbach, Michael; Earley, Christopher J; Allen, Richard P

    2014-12-01

    Iron deficiency anemia (IDA) engenders restless legs syndrome (RLS, aka Willis-Ekbom disease). Intravenous (IV) iron can rapidly reverse IDA and would be expected to similarly reverse RLS caused by IDA. This is the first consecutive case series evaluating the effects of IV iron therapy on RLS occurring with IDA (RLS-IDA). RLS-IDA patients were evaluated before and 7-12 months after a 1000-mg IV infusion of low-molecular-weight iron dextran (INFeD(@)) using validated questionnaires and standardized telephone interview. Patients were classified as respondent versus nonrespondent for RLS improvement. Follow-up data were obtained on 42 (70%) of 60 consecutive RLS-IDA patients. The symptoms of RLS were reduced in 76% (32/42) with 47% (20/42) showing an extended response lasting >6 months. The response did not relate to age or gender, but tended to be less among African-Americans than Whites (40% (2/5) vs. 81% (30/37), p = 0.078). White respondents versus nonrespondents had higher hemoglobin levels after treatment (12.1 vs. 11.3 g/dl, p = 0.03). RLS-IDA is reduced after administration of IV iron in most cases, but the 24% failing to respond was higher than expected. The nonrespondents all showed below-normal hemoglobin levels (<12.5 g/dl) suggesting a failure of adequate treatment of the iron deficiency. IV iron treatment of the RLS with IDA likely requires ensuring more than minimally adequate body iron stores to support iron delivery to the brain. For some, this may require a dose higher than the customary 1000-mg IV iron used for the treatment of either IDA or RLS alone. Copyright © 2014 Elsevier B.V. All rights reserved.

  15. Epidemiology of curable sexually transmitted infections among women at increased risk for HIV in northwestern Tanzania: inadequacy of syndromic management.

    Directory of Open Access Journals (Sweden)

    Suzanna C Francis

    Full Text Available BACKGROUND: Curable, non-viral pathogens account for a significant burden of sexually transmitted infections (STIs, and there is established evidence that STIs increase both HIV acquisition and transmission. We investigated the prevalence, trends, and factors associated with Chlamydia trachomatis, Neisseria gonorrhoeae, Trichomonas vaginalis and Treponema pallidum, and the performance of syndromic management, among a cohort of women working in bars, hotels, and other food and recreational facilities near large-scale mines in northwestern Tanzania. METHODS: HIV-negative women aged 18-44 years (N = 966 were enrolled and followed for 12 months in a microbicides feasibility study. We collected sociodemographic and behavioural data, performed clinical examinations, and tested for STIs, at enrolment and 3-monthly. Risk factors for STIs were investigated using logistic regression models with random effects. Sensitivity, specificity and predictive values of syndromic management were calculated. RESULTS: At enrolment, the prevalences of C. trachomatis, N. gonorrhoeae, T. vaginalis, and high-titre active syphilis were 111/956 (12%, 42/955 (4%, 184/945 (19% and 46/965 (5%, respectively. There were significant decreases over time for C. trachomatis and T. vaginalis (OR trend per month: 0.94 [95% CI 0.91, 0.97]; and 0.95 [0.93, 0.98], respectively; both p<0.001. The majority of these infections were not diagnosed by the corresponding syndrome; therefore, most participants were not treated at the diagnosis visit. Syndromic management was poorly predictive of laboratory-diagnosed infections. We identified a number of risk factors for STIs, including low educational level, some sexual behaviours, and ever having been pregnant. CONCLUSIONS: This analysis demonstrates that the prevalences of curable STIs are high among women who work in food and recreational facilities in northwestern Tanzania. Most of these infections are missed by syndromic management

  16. Multifactorial origins of heart and gut defects in nipbl-deficient zebrafish, a model of Cornelia de Lange Syndrome.

    Directory of Open Access Journals (Sweden)

    Akihiko Muto

    2011-10-01

    Full Text Available 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

  17. A 23 years follow-up study identifies GLUT1 deficiency syndrome initially diagnosed as complicated hereditary spastic paraplegia.

    Science.gov (United States)

    Diomedi, Marina; Gan-Or, Ziv; Placidi, Fabio; Dion, Patrick A; Szuto, Anna; Bengala, Mario; Rouleau, Guy A; Gigli, Gian Luigi

    2016-11-01

    Glucose transporter 1 (GLUT1) deficiency syndrome (GLUT1DS) was initially described in the early 90s as a sporadic clinical condition, characterized by seizures, motor and intellectual impairment with variable clinical presentation, and without a known genetic cause. Although causative mutations in SLC2A1 were later identified and much more is known about the disease, it still remains largely underdiagnosed. In the current study, a previously described Italian family was re-analyzed using whole exome sequencing and clinically re-evaluated. Affected individuals presented with spastic paraplegia as a predominant symptom, with epilepsy and intellectual disability, inherited as an autosomal dominant trait with variable clinical presentation. While a novel variant of hereditary spastic paraplegia (HSP) was initially hypothesized in this family, previous linkage studies of known HSP genes did not identify the genetic cause. Exome-sequencing study identified a p.Arg126Cys mutation in the SLC2A1 gene, encoding GLUT1, which segregated with the affected members of the family. The diagnosis of GLUT1DS was further confirmed by cerebrospinal fluid analysis, and treatment was started with good initial response. The description of this large family provides further clinical information on this rare disease. It also offers an example of how GLUT1DS can be challenging to diagnose, and emphasizes the importance of lumbar puncture in the workflow of similar syndromes. Finally, it suggests that analysis of SLC2A1 should be considered in the diagnostic work up of HSP, especially if it is associated with epilepsy. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  18. Hyponatremia in aneurysmal subarachnoid hemorrhage is due to the syndrome of inappropriate antidiuresis and acute glucocorticoid deficiency

    LENUS (Irish Health Repository)

    Hannon, M J

    2011-06-01

    Hyponatraemia is the most common electrolyte abnormality following subarachnoid haemorrhage (SAH) and contributes to increased morbidity and mortality. Retrospective data suggests that the syndrome of inappropriate diuresis (SIAD) is the most common cause of hyponatraemia in SAH, though cerebral salt wasting has been postulated by some workers to be the predominant abnormality. Data which has shown acute glucocorticoid deficiency following SAH has suggested that some cases of euvolaemic hyponatraemia may also be caused by this mechanism.We prospectively studied the hormonal and haemodynamic influences involved in the development of hyponatraemia in 100 patients (61% female, median age 53 (range 16-82)) with non-traumatic aneurysmal SAH. Each patient had plasma sodium (pNa), urea, osmolality, glucose and 0900h cortisol (PC), and urinary sodium and osmolality measured on days 1, 2, 3, 4, 6, 8, 10 and 12 following SAH. Fluid balance and haemodynamic parameters were recorded daily. Results were compared with 15 patients admitted to ITU following vascular surgery. A PC<300nmol\\/L in a patient in ITU was regarded clinically as inappropriately low.49% of patients developed hyponatraemia (pNa<135 mmol\\/L), including 14% who developed clinically significantly hyponatraemia (pNa<130 mmol\\/L). 36\\/49 (73.4%) developed hyponatraemia between days 1 and 3 post SAH. The median duration of hyponatraemia was 3 days (range 1–10 days).In 35\\/49 (71.4%), hyponatraemia was due to SIAD as defined by standard diagnostic criteria. 14% of SAH patients had at least one PC<300nmol\\/L; 5 of these (35.7%) developed hyponatraemia. In 4 patients hyponatraemia was preceded by acute cortisol deficiency and responded to hydrocortisone treatment. In contrast, all controls had PC>500 nmol\\/L on day 1, and >300 nmol on days 3–12. There were no cases of cerebral salt wasting. There was no relationship between the incidence of hyponatraemia and the defined anatomical territory or severity of

  19. CD4+ T-cell deficiency in HIV patients responding to antiretroviral therapy is associated with increased expression of interferon-stimulated genes in CD4+ T cells.

    Science.gov (United States)

    Fernandez, Sonia; Tanaskovic, Sara; Helbig, Karla; Rajasuriar, Reena; Kramski, Marit; Murray, John M; Beard, Michael; Purcell, Damian; Lewin, Sharon R; Price, Patricia; French, Martyn A

    2011-12-15

    Most patients with human immunodeficiency virus (HIV) who remain CD4(+) T-cell deficient on antiretroviral therapy (ART) exhibit marked immune activation. As CD4(+) T-cell activation may be mediated by microbial translocation or interferon-alpha (IFN-α), we examined these factors in HIV patients with good or poor CD4(+) T-cell recovery on long-term ART. Messenger RNA levels for 3 interferon-stimulated genes were increased in CD4(+) T cells of patients with poor CD4(+) T-cell recovery, whereas levels in patients with good recovery did not differ from those in healthy controls. Poor CD4(+) T-cell recovery was also associated with CD4(+) T-cell expression of markers of activation, senescence, and apoptosis, and with increased serum levels of the lipopolysaccharide receptor and soluble CD14, but these were not significantly correlated with expression of the interferon-stimulated genes. Therefore, CD4(+) T-cell recovery may be adversely affected by the effects of IFN-α, which may be amenable to therapeutic intervention.

  20. Mice deficient in small leucine-rich proteoglycans: novel in vivo models for osteoporosis, osteoarthritis, Ehlers-Danlos syndrome, muscular dystrophy, and corneal diseases.

    Science.gov (United States)

    Ameye, Laurent; Young, Marian F

    2002-09-01

    Small leucine-rich proteoglycans (SLRPs) are extracellular molecules that bind to TGFbetas and collagens and other matrix molecules. In vitro, SLRPs were shown to regulate collagen fibrillogenesis, a process essential in development, tissue repair, and metastasis. To better understand their functions in vivo, mice deficient in one or two of the four most prominent and widely expressed SLRPs (biglycan, decorin, fibromodulin, and lumican) were recently generated. All four SLRP deficiencies result in the formation of abnormal collagen fibrils. Taken together, the collagen phenotypes demonstrate a cooperative, sequential, timely orchestrated action of the SLRPs that altogether shape the architecture and mechanical properties of the collagen matrix. In addition, SLRP-deficient mice develop a wide array of diseases (osteoporosis, osteoarthritis, muscular dystrophy, Ehlers-Danlos syndrome, and corneal diseases), most of them resulting primarily from an abnormal collagen fibrillogenesis. The development of these diseases by SLRP-deficient mice suggests that mutations in SLRPs may be part of undiagnosed predisposing genetic factors for these diseases. Although the distinct phenotypes developed by the different singly deficient mice point to distinct in vivo function for each SLRP, the analysis of the double-deficient mice also demonstrates the existence of rescuing/compensation mechanisms, indicating some functional overlap within the SLRP family.

  1. International Retrospective Chart Review of Treatment Patterns in Severe Familial Mediterranean Fever, Tumor Necrosis Factor Receptor-Associated Periodic Syndrome, and Mevalonate Kinase Deficiency/Hyperimmunoglobulinemia D Syndrome.

    Science.gov (United States)

    Ozen, Seza; Kuemmerle-Deschner, Jasmin B; Cimaz, Rolando; Livneh, Avi; Quartier, Pierre; Kone-Paut, Isabelle; Zeft, Andrew; Spalding, Steve; Gul, Ahmet; Hentgen, Veronique; Savic, Sinisa; Foeldvari, Ivan; Frenkel, Joost; Cantarini, Luca; Patel, Dony; Weiss, Jeffrey; Marinsek, Nina; Degun, Ravi; Lomax, Kathleen G; Lachmann, Helen J

    2017-04-01

    Periodic fever syndrome (PFS) conditions are characterized by recurrent attacks of fever and localized inflammation. This study examined the diagnostic pathway and treatments at tertiary centers for familial Mediterranean fever (FMF), tumor necrosis factor receptor-associated periodic syndrome (TRAPS), and mevalonate kinase deficiency (MKD)/hyperimmunoglobulinemia D syndrome (HIDS). PFS specialists at medical centers in the US, the European Union, and the eastern Mediterranean participated in a retrospective chart review, providing de-identified data in an electronic case report form. Patients were treated between 2008 and 2012, with at least 1 year of followup; all had clinical and/or genetically proven disease and were on/eligible for biologic treatment. A total of 134 patients were analyzed: FMF (n = 49), TRAPS (n = 47), and MKD/HIDS (n = 38). Fever was commonly reported as severe across all indications. Other frequently reported severe symptoms were serositis for FMF patients and elevated acute-phase reactants and gastrointestinal upset for TRAPS and MKD/HIDS. A long delay from disease onset to diagnosis was seen within TRAPS and MKD/HIDS (5.8 and 7.1 years, respectively) compared to a 1.8-year delay in FMF patients. An equal proportion of TRAPS patients first received anti-interleukin-1 (anti-IL-1) and anti-tumor necrosis factor (anti-TNF) biologic agents, whereas IL-1 blockade was the main choice for FMF patients resistant to colchicine and MKD/HIDS patients. For TRAPS patients, treatment with anakinra versus anti-TNF treatments as first biologic agent resulted in significantly higher clinical and biochemical responses (P = 0.03 and P < 0.01, respectively). No significant differences in responses were observed between biologic agents among other cohorts. Referral patterns and diagnostic delays highlight the need for greater awareness and improved diagnostics for PFS. This real-world treatment assessment supports the need for further

  2. Fatal Relapse of Myelodysplastic Syndrome in a Patient with HIV/Hepatitis C Coinfection Treated with Simeprevir/Sofosbuvir.

    Science.gov (United States)

    Diejomaoh, Efemena Michael; Gathe, Joseph Clayton; Mayberry, Carl Craig; Clemmons, John Benjamin; Miguel, Bernie; Glombicki, Alan; Daquioag, Benjamin

    2017-01-01

    Registrational studies and observational cohorts clearly suggest sustained virologic response (SVR) rates in HIV-/hepatitis C-coinfected patients are similar to monoinfected patients when utilizing interferon-free regimens, and this can be accomplished with agents that are well tolerated with minimal adverse events. These randomized trials that led to the approval of several of our new direct-acting antiviral agents, however, specifically excluded patients who had significant comorbidities and none to our knowledge accepted patients with a history of cancer. Therefore, the effect of treatment of active hepatitis C in such patients and the effect on preexisting neoplasia are relatively unknown. We prospectively followed a 62-year-old male coinfected with HIV/hepatitis C who had a history of anal squamous cell carcinoma, prostate carcinoma, renal cell carcinoma all clinically cured and a myelodysplastic syndrome that was in remission. The patient achieved an SVR of hepatitis C with simeprevir/sofosbuvir without ribavirin and died shortly thereafter of a fatal relapse of his previously clinically controlled myelodysplastic syndrome.

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

    Directory of Open Access Journals (Sweden)

    Federica Pulvirenti

    2016-01-01

    Full Text Available 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.

  4. A study of HIV-related lipodystrophy syndrome in 55 HIV-infected Chinese adult patients%中国成人HIV相关脂肪营养不良综合征55例研究

    Institute of Scientific and Technical Information of China (English)

    张璐; 黎明; 陶梅梅; 邱志峰; 谢静; 韩扬; 余卫; 李太生

    2009-01-01

    Objective To study the prevalence, clinical characteristics and risk factors of HIV-related lipodystrophy syndrome (HIV-LD) in our cohort of HIV-1 infected Chinese adults. Methods In a cross-sectional study, 55 HIV-infected patients were recruited from the HIV clinic of Peking Union Medical College Hospital; most of them were undergoing the first-class highly active antiretroviral therapy (HAART) of today in China. Lipoatrophy or lipohypertrophy was defined if there was concordance between the report of fat change and clinical examination of the participants. Whole body dual-energy X-ray absorptiometry (DEXA) scanning was performed. Results Prevalence of clinical body fat redistribution in the present study was 47.3%. Comparing with non-LD patients, HIV-LD patients had elder age and longer exposure to HAART(P<0.05). HAART exposure and stavudine(d4T) usage were two independent risk factors for HIV-LD. Conclusions HIV-related fat redistribution does exist in Chinese HIV population. Peripheral lipoatrophy occurs commonly in HIV-infected adults but is not associated with increased trunk fat. HAART exposure and especially d4T usage are independent risk factors for HIV-LD.%目的 了解中国部分HIV/MDS患者在高效抗逆转录病毒治疗(HAART)后HIV相关脂肪营养不良综合征(HIV-LD)的临床特点和危险因素.方法 收集2007年3-5月期间在我院门诊随诊的成年HIV/AIDS患者55例,根据患者报告和医师评估结果 ,将上述患者分成HIV-LD组与非脂肪营养不良综合征(HIV-NLD)组.对两组HIV/AIDS患者进行全身双能X射线扫描(DEXA),并比较两组间临床特点、治疗过程及实验室检查指标的差异,分析发生HIV-LD的可能危险因素.结果 55例HIV/AIDS患者中,脂肪异常分布发生率为47.3%.多因素分析结果 显示,HAART暴露2年以上、司他夫定(d4T)暴露1年以上与HIV-LD的发生独立相关.DEXA结果 显示,HIV/AIDS患者脂肪异常分布主要表现为外周脂肪萎缩.结论 脂

  5. Lesch-Nyhan syndrome: mRNA expression of HPRT in patients with enzyme proven deficiency of HPRT and normal HPRT coding region of the DNA.

    Science.gov (United States)

    Nguyen, Khue Vu; Naviaux, Robert K; Paik, Kacie K; Nyhan, William L

    2012-08-01

    Inherited mutation of the purine salvage enzyme, hypoxanthine guanine phosphoribosyltransferase (HPRT) gives rise to Lesch-Nyhan syndrome (LNS) or Lesch-Nyhan variants (LNV). We report a case of two LNS affected members of a family with deficiency of activity of HPRT in intact cultured fibroblasts in whom mutation could not be found in the HPRT coding sequence but there was markedly decreased HPRT expression of mRNA. Published by Elsevier Inc.

  6. Sindrom pomanjkanja rastnega hormona pri odraslem - učinki nadomestnega zdravljenja: Syndrome of growth hormone deficiency in adults - effects of growth hormone replacement therapy:

    OpenAIRE

    Pfeifer, Marija

    2001-01-01

    Background. After the cessation of longitudinal growth, growth hormone (GH) continues to subserve an important role in the regulation of body metabolism (stimulation of lipolysis and lipid oxidation, protein synthesis, insulin antagonism, and sodium and water retention) to optimise body composition and function. Most patients with hypopituitarism exhibit the syndrome of GH deficiency with a number of abnormal features which can be reversed with recombinant GH replacement therapy. Conclusions....

  7. Brain microvasculature defects and Glut1 deficiency syndrome averted by early repletion of the glucose transporter-1 protein.

    Science.gov (United States)

    Tang, Maoxue; Gao, Guangping; Rueda, Carlos B; Yu, Hang; Thibodeaux, David N; Awano, Tomoyuki; Engelstad, Kristin M; Sanchez-Quintero, Maria-Jose; Yang, Hong; Li, Fanghua; Li, Huapeng; Su, Qin; Shetler, Kara E; Jones, Lynne; Seo, Ryan; McConathy, Jonathan; Hillman, Elizabeth M; Noebels, Jeffrey L; De Vivo, Darryl C; Monani, Umrao R

    2017-01-20

    Haploinsufficiency of the SLC2A1 gene and paucity of its translated product, the glucose transporter-1 (Glut1) protein, disrupt brain function and cause the neurodevelopmental disorder, Glut1 deficiency syndrome (Glut1 DS). There is little to suggest how reduced Glut1 causes cognitive dysfunction and no optimal treatment for Glut1 DS. We used model mice to demonstrate that low Glut1 protein arrests cerebral angiogenesis, resulting in a profound diminution of the brain microvasculature without compromising the blood-brain barrier. Studies to define the temporal requirements for Glut1 reveal that pre-symptomatic, AAV9-mediated repletion of the protein averts brain microvasculature defects and prevents disease, whereas augmenting the protein late, during adulthood, is devoid of benefit. Still, treatment following symptom onset can be effective; Glut1 repletion in early-symptomatic mutants that have experienced sustained periods of low brain glucose nevertheless restores the cerebral microvasculature and ameliorates disease. Timely Glut1 repletion may thus constitute an effective treatment for Glut1 DS.

  8. Quality of life among people living with acquired immune deficiency syndrome receiving anti-retroviral therapy: a study from Nepal

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    Giri S

    2013-09-01

    Full Text Available Smith Giri, Maniraj Neupane, Sushil Pant, Utsav Timalsina, Sagar Koirala, Santosh Timalsina, Sashi Sharma Department of Medicine, Tribhuvan University Teaching Hospital, Kathmandu, Nepal Purpose: The present study was undertaken to determine the impact of acquired immune deficiency syndrome (AIDS on the quality of life of affected individuals in Nepal. Patients and methods: A cross sectional study was done among 70 individuals attending the Anti-Retroviral Therapy clinic of the University Hospital in Nepal. Quality of life (QOL was evaluated using World Health Organization Quality of life questionnaire (WHO QOL-BREF instrument. Statistical analysis was done using SPSS Version 17.0. Results: The median scores with interquartile range (IQR in four domains of QOL in descending order were physical (61; IQR 22, social (58; IQR 33, environmental (56; IQR 13, and psychological (54; IQR 8. Older age was associated with lower perceived overall QOL. Females were more likely to have lower QOL scores in the social and psychological domains. Higher CD4 counts and a married status were significant predictors of higher QOL scores in the environmental domain. Conclusion: Being older, female, single, and having advanced clinical stage is associated with lower QOL scores in people living with AIDS. Lowest QOL scores were seen in the psychological domain suggesting the need of psychological interventions. Keywords: quality of life, AIDS, Nepal, WHO QOL-BREF

  9. Dehydroepiandrosterone (DHEA) substitution treatment for severe fatigue in DHEA-deficient patients with primary Sjögren's syndrome.

    Science.gov (United States)

    Virkki, Liisa M; Porola, Pauliina; Forsblad-d'Elia, Helena; Valtysdottir, Sigridur; Solovieva, Svetlana A; Konttinen, Yrjö T

    2010-01-15

    Primary Sjögren's syndrome (SS) is characterized by fatigue and low levels of serum dehydroepiandrosterone/dehydroepiandrosterone sulfate (DHEA/DHEAS). Our aim was to study whether SS patients with severe fatigue and low serum DHEAS values benefit from DHEA substitution (50 mg/day). A multicenter, investigator-based, powered, randomized controlled clinical trial (crossover, washout design) using fatigue as the primary outcome measure was performed on patients with primary SS (n = 107) who had a general fatigue score > or =14 on the 20-item Multiple Fatigue Inventory (MFI-20), combined with age- and sex-adjusted serum DHEAS values below the mean. Fatigue was assessed using MFI-20 subscales, i.e., general fatigue, physical fatigue, mental fatigue, reduced motivation, and activity (scale 4-20), and with a visual analog scale (VAS; scale 0-100). In an intent-to-treat analysis, a 50-mg DHEA substitution dose and placebo similarly improved fatigue. All of the MFI-20 subscales and the fatigue VAS improved from the baseline levels as a result of treatment (P DHEA in DHEA-deficient and severely tired primary SS patients does not help against fatigue better than placebo. This may relate to the prohormone nature of DHEA and its recently described defective intracrine tissue-specific conversion to active sex steroids in SS.

  10. Epstein-Barr virus myelitis and Castleman's disease in a patient with acquired immune deficiency syndrome: a case report

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    Balderacchi Jasminka

    2011-05-01

    Full Text Available Abstract Introduction Few cases of Epstein-Barr virus myelitis have been described in the literature. Multi-centric Castleman's disease is a lymphoproliferative disorder that is well known for its associations with the human immunodeficiency virus, human herpes virus 8, and Kaposi's sarcoma. The concurrent presentation of these two diseases in a patient at the same time is extremely unusual. Case Presentation We describe the case of a 43-year-old Caucasian man with acquired immune deficiency syndrome who presented with fever, weight loss and diffuse lymphadenopathy, and was diagnosed with multi-centric Castleman's disease. He presented three weeks later with lower extremity weakness and urinary retention, at which time cerebrospinal fluid contained lymphocytic pleocytosis and elevated protein. Magnetic resonance imaging demonstrated abnormal spinal cord signal intensity over several cervical and thoracic segments, suggesting the diagnosis of myelitis. Our patient was ultimately diagnosed with Epstein-Barr virus myelitis, as Epstein-Barr virus DNA was detected by polymerase chain reaction in the cerebrospinal fluid. Conclusion To the best of our knowledge, this is the first case of multi-centric Castleman's disease followed by acute Epstein-Barr virus myelitis in a human immunodeficiency virus-infected patient. Clinicians caring for human immunodeficiency virus-infected patients should be vigilant about monitoring patients with increasing lymphadenopathy, prompting thorough diagnostic investigations when necessary.

  11. A Protein Kinase C Phosphorylation Motif in GLUT1 Affects Glucose Transport and is Mutated in GLUT1 Deficiency Syndrome.

    Science.gov (United States)

    Lee, Eunice E; Ma, Jing; Sacharidou, Anastasia; Mi, Wentao; Salato, Valerie K; Nguyen, Nam; Jiang, Youxing; Pascual, Juan M; North, Paula E; Shaul, Philip W; Mettlen, Marcel; Wang, Richard C

    2015-06-04

    Protein kinase C has been implicated in the phosphorylation of the erythrocyte/brain glucose transporter, GLUT1, without a clear understanding of the site(s) of phosphorylation and the possible effects on glucose transport. Through in vitro kinase assays, mass spectrometry, and phosphospecific antibodies, we identify serine 226 in GLUT1 as a PKC phosphorylation site. Phosphorylation of S226 is required for the rapid increase in glucose uptake and enhanced cell surface localization of GLUT1 induced by the phorbol ester 12-O-tetradecanoyl-phorbol-13-acetate (TPA). Endogenous GLUT1 is phosphorylated on S226 in primary endothelial cells in response to TPA or VEGF. Several naturally occurring, pathogenic mutations that cause GLUT1 deficiency syndrome disrupt this PKC phosphomotif, impair the phosphorylation of S226 in vitro, and block TPA-mediated increases in glucose uptake. We demonstrate that the phosphorylation of GLUT1 on S226 regulates glucose transport and propose that this modification is important in the physiological regulation of glucose transport.

  12. Kefir improves fatty liver syndrome by inhibiting the lipogenesis pathway in leptin-deficient ob/ob knockout mice.

    Science.gov (United States)

    Chen, H-L; Tung, Y-T; Tsai, C-L; Lai, C-W; Lai, Z-L; Tsai, H-C; Lin, Y-L; Wang, C-H; Chen, C-M

    2014-09-01

    Fatty liver disease is commonly associated with obesity, insulin resistance and diabetes. Severe fatty liver is sometimes accompanied by steatohepatitis and may lead to the development of hepatocellular carcinoma. At present, there is no effective treatment for non-alcoholic fatty liver disease (NAFLD); thus, recent investigations have focused on developing effective therapeutics to treat this condition. This study aimed to evaluate the effects of kefir on the hepatic lipid metabolism of ob/ob mice, which are commonly used to model fatty liver disease. In this study, we used leptin receptor-deficient ob/ob mice as an animal disease model of NAFLD. Six-week-old ob/ob mice were orally administered the dairy product kefir (140 mg kg(-1) of body weight (BW) per day) for 4 weeks. The data demonstrated that kefir improved fatty liver syndrome on BW, energy expenditure and basal metabolic rate by inhibiting serum glutamate oxaloacetate transaminase (GOT) and glutamate pyruvate transaminase (GPT) activities (Pkefir administration also significantly reduced the macrovesicular fat quantity in liver tissue. In addition, kefir markedly decreased the expression of the genes sterol regulatory element-binding protein 1 (SREBP1), fatty acid synthase (FAS) and acetyl-CoA carboxylase (ACC) (Pkefir improves NAFLD on BW, energy expenditure and basal metabolic rate by inhibiting the lipogenesis pathway and that kefir may have the potential for clinical application to the prevention or treatment of NAFLD.

  13. [Changes of acquired immune deficiency syndrome related knowledge, attitudes, behaviors and their influencing factors among college students in Beijing].

    Science.gov (United States)

    2017-06-18

    To compare acquired immune deficiency syndrome (AIDS) related knowledge, attitudes, behaviors and their influencing factors among college students in different years in Beijing, and to provide evidence for targeted health education among college students in future. College students were selected by the stratified cluster sampling method, and a questionnaire survey was conducted among college students in year 2006 and 2016 in Beijing. The sample sizes were 1 800 and 3 001 college students, respectively. The contents of the questionnaire included: socio-demographic characteristics, AIDS related knowledge, AIDS related attitude, sex intercourse and its related risk behaviors, condom use intension, and AIDS related health education. Compared with the year 2006, the average AIDS knowledge scores of college students in year 2016 dropped from 12.78±1.95 to 11.90±2.56 (t=12.91, Pinfluencing factors of intention on condom use were male (OR=0.713), self-efficacy of condom purchase (OR=0.876), never received sex education before college (OR=0.752), self-efficacy of condom use (OR=1.135), belief of condom use (OR=1.775), and attitude towards AIDS patients (OR=1.136). AIDS related knowledge, attitudes and behaviors among college students have been changed, AIDS related health education should be designed and improved based on new characteristics of college students. AIDS health education in colleges should pay more attention to sex attitude and sex responsibility and self-protection awareness among college students as well.

  14. Studies on 'zinc deficiency syndrome' in black bengal goats (Capra hircus) fed with fodder (Andropogon gayanus) grown on soil treated with an excess of calcium and phosphorus fertilizer.

    Science.gov (United States)

    Ray, S K; Roychoudhury, R; Bandopadhyay, S K; Basu, S

    1997-11-01

    Overliming and excessive application of superphosphate caused a zinc deficiency in the soil and so reduced the uptake of zinc by fodder plants. Bucks reared on such fodder had significantly (p zinc in their hair compared with controls and suffered from 'conditioned zinc deficiency syndrome' with a significant (p zinc sulphate very rapidly improved these conditions to near normality. Histological examination of samples of skin and testis from the zinc-deficient bucks revealed formation of excessive keratin, retention of nuclei in the stratum corneum and reduction in the width of the stratum granulosum in the skin, while samples of testis indicated degenerative changes, including atrophy of the seminiferous tubules, hyperplasia of the germinal epithelium and thickening of the walls of blood vessels.

  15. HIV and AIDS knowledge and sexual behaviours amongst secondary school learners in Harare, Zimbabwe

    Directory of Open Access Journals (Sweden)

    Margaret Mlingo

    2012-07-01

    Full Text Available Efforts to stem the tide of the Human immunodeficiency virus (HIV and Acquired immune deficiency syndrome (AIDS pandemic in Africa emphasise the necessity that learners should be able to make informed decisions. Although learners in Zimbabwe’s schools are taught about HIV and AIDS, the extent of their knowledge needed to be determined. The major objective was to assess the knowledge of secondary school learners in Harare, Zimbabwe, about HIV and AIDS. Structured interviews were conducted with 75 Grade 8 (Form 1 secondary school learners from four schools in Harare.Most learners had obtained their HIV and AIDS knowledge from schools, but some did so from their parents, community activities, the radio or television. No learner had commenced with sexual activities and all had heard about HIV, but not all knew what HIV was, and even fewer could define AIDS. Less than one-third of the learners could mention the three most important HIV preventive measures. Most learners were willing to undergo voluntary counselling and testing (VCT, but few had done so. As no learner had commenced sexual activities, opportunities existed to empower Grade 8 (Form 1 learners with adequate HIV and AIDS knowledge. Generally the learners’ HIV and AIDS knowledge levels were high but some misconceptions existed. Schools should engage with radio and television programmes to address misconceptions about HIV and AIDS. Learners should be enabled to access VCT services. More effective HIV prevention education in Zimbabwe’s schools, could enable more youth to remain HIV negative.

  16. Falhas na identificação da infecção pelo HIV durante a gravidez em São Paulo, SP, 1998 Deficiencies in diagnosing HIV-infection during pregnancy in Brazil, 1998

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    HHS Marques

    2002-08-01

    riscos e da necessidade de tratamento.OBJECTIVE: The increasing number of women with AIDS in the state of São Paulo has lead to the implementation of a series of measures to reduce mother-to-child HIV transmission. The objective of this study was to evaluate these measures' deficiencies regarding coverage and quality of prenatal care in some HIV reference services in the state of São Paulo. METHODS: All HIV-positive women, aged 18 years or more, who gave birth in 1998 were interviewed when they came for a visit with an infectologist or a pediatrician in three cities (São Paulo, Santos and São José do Rio Preto of the state of São Paulo. A structured questionnaire was applied. Prenatal care and time of their HIV infection diagnosis (before, during or after pregnancy were assessed. RESULTS: Of 116 women interviewed, 109/116 (94% had attended a prenatal care service during pregnancy, 64% had their first visit in the first trimester and 80% had 3 or more visits during pregnancy. The mean age of those who attended a prenatal service was 29.1 years, higher than those who did not attend any service (24.3 years. The HIV-positive status was known by 45%, 38% and 17% of the women before pregnancy, during pregnancy and after delivery, respectively. HIV testing was offered to 82% who did not know their serologic status, and among these, only 56% were informed about the importance of getting tested. The basic health care units (UBS were less efficient in conveying information to the mothers about their children's infection risk (p=0.037 and their treatment needs (p=0.014. CONCLUSIONS: The main deficiencies identified were lack of HIV testing during pregnancy and inadequate information. Though basic health care units are the most important source of care for this population, its contribution to the understanding of risks and treatment needs was the most unsatisfactory.

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

    Science.gov (United States)

    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

  18. Strain-dependence of the Angelman Syndrome phenotypes in Ube3a maternal deficiency mice.

    Science.gov (United States)

    Born, Heather A; Dao, An T; Levine, Amber T; Lee, Wai Ling; Mehta, Natasha M; Mehra, Shubhangi; Weeber, Edwin J; Anderson, Anne E

    2017-08-16

    Angelman syndrome (AS) is a genetic neurodevelopmental disorder, most commonly caused by deletion or mutation of the maternal allele of the UBE3A gene, with behavioral phenotypes and seizures as key features. Currently no treatment is available, and therapeutics are often ineffective in controlling AS-associated seizures. Previous publications using the Ube3a maternal deletion model have shown behavioral and seizure susceptibility phenotypes, however findings have been variable and merit characterization of electroencephalographic (EEG) activity. In this study, we extend previous studies comparing the effect of genetic background on the AS phenotype by investigating the behavioral profile, EEG activity, and seizure threshold. AS C57BL/6J mice displayed robust behavioral impairments, spontaneous EEG polyspikes, and increased cortical and hippocampal power primarily driven by delta and theta frequencies. AS 129 mice performed poorly on wire hang and contextual fear conditioning and exhibited a lower seizure threshold and altered spectral power. AS F1 hybrid mice (C57BL/6J × 129) showed milder behavioral impairments, infrequent EEG polyspikes, and fewer spectral power alterations. These findings indicate the effect of common genetic backgrounds on the Ube3a maternal deletion behavioral, EEG, and seizure threshold phenotypes. Our results will inform future studies on the optimal strain for evaluating therapeutics with different AS-like phenotypes.

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

    Science.gov (United States)

    Limsuwan, A; Kanapa, S; Siristonapun, Y

    1986-03-01

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

  20. Progeroid syndrome patients with ZMPSTE24 deficiency could benefit when treated with rapamycin and dimethylsulfoxide

    Science.gov (United States)

    Akinci, Baris; Sankella, Shireesha; Gilpin, Christopher; Ozono, Keiichi; Garg, Abhimanyu; Agarwal, Anil K.

    2017-01-01

    Patients with progeroid syndromes such as mandibuloacral dysplasia, type B (MADB) and restrictive dermopathy (RD) harbor mutations in zinc metalloproteinase (ZMPSTE24), an enzyme essential for posttranslational proteolysis of prelamin A to form mature lamin A. Dermal fibroblasts from these patients show increased nuclear dysmorphology and reduced proliferation; however, the efficacy of various pharmacological agents in reversing these cellular phenotypes remains unknown. In this study, fibroblasts from MADB patients exhibited marked nuclear abnormalities and reduced proliferation that improved upon treatment with rapamycin and dimethylsulfoxide but not with other agents, including farnesyl transferase inhibitors. Surprisingly, fibroblasts from an RD patient with a homozygous null mutation in ZMPSTE24, resulting in exclusive accumulation of prelamin A with no lamin A on immunoblotting of cellular lysate, exhibited few nuclear abnormalities and near-normal cellular proliferation. An unbiased proteomic analysis of the cellular lysate from RD fibroblasts revealed a lack of processing of vimentin, a cytoskeletal protein. Interestingly, the assembly of the vimentin microfibrils in MADB fibroblasts improved with rapamycin and dimethylsulfoxide. We conclude that rapamycin and dimethylsulfoxide are beneficial for improving nuclear morphology and cell proliferation of MADB fibroblasts. Data from a single RD patient's fibroblasts also suggest that prelamin A accumulation by itself might not be detrimental and requires additional alterations at the cellular level to manifest the phenotype. PMID:28050601

  1. Alzheimer's Disease and Vascular Deficiency: Lessons from Imaging Studies and Down Syndrome

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    Arlene Reed-Cossairt

    2012-01-01

    Full Text Available Down syndrome (DS individuals are at high risk for developing Alzheimer's disease (AD and consequently provide a unique opportunity to examine the factors leading to the onset of AD. This paper focuses on the neglected vascular parallels between AD and DS that can readily be examined in DS. Several recent AD studies provide evidence that internal jugular vein (IJV reflux may result in white matter lesions and a 30% decrease in cerebrospinal fluid (CSF clearance of amyloid-β. At the same time, studies analyzing the synthesis of amyloid-β in DS showed greater than expected amounts of Aβ than would be predicted by the increase in gene dosage, perhaps due to slower clearance. These studies are discussed along with the possibility that the venous and CSF dysfunction found in AD patients may be present early in life in persons with DS, leaving them particularly vulnerable to early onset AD. Studying IJV function in DS provides an opportunity to understand the role of vascular function in the initiation of AD.

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

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    Bianca De Filippis

    2015-01-01

    Full Text Available 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.

  3. Immune reconstitution inflammatory syndrome in HIV-infected patients with mycobacterial infections starting highly active anti-retroviral therapy

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    Buckingham, S.J.; Haddow, L.J.; Shaw, P.J.; Miller, R.F. E-mail: rmiller@gum.ucl.ac.uk

    2004-06-01

    AIM: To describe the radiological appearances of immune reconstitution inflammatory syndrome (IRIS) in human immunodeficiency virus (HIV)-infected patients with mycobacterial infections starting highly active anti-retroviral therapy (HAART). MATERIALS AND METHODS: Five consecutive HIV infected patients with IRIS due to mycobacterial infection were studied. Intercurrent infection and poor drug compliance were excluded as causes of presentation. The chest radiological appearances at the time of starting HAART and at the time of diagnosis of IRIS were compared. RESULTS: In these five patients there was clinical and radiological deterioration, occurring between 10 days and 7 months after starting HAART, leading to unmasking of previously undiagnosed mycobacterial infection or to worsening of mycobacterial disease. All five patients had HAART-induced increases in CD4+ T lymphocyte counts and reductions in peripheral blood HIV 'viral load'. Chest radiographic abnormalities due to IRIS included marked mediastinal lymphadenopathy in three patients--severe enough to produce tracheal compression in two patients (one of whom had stridor)--and was associated with new pulmonary infiltrates in two patients. The other two patients had new infiltrates, which in one patient was associated with a pleural effusion. CONCLUSION: These cases illustrate the diverse chest radiographic appearances of IRIS occurring after HAART in patients with mycobacterial and HIV co-infection. Marked mediastinal lymphadenopathy occurred in three of these five patients (with associated tracheal narrowing in two patients); four patients developed pulmonary infiltrates and one had an effusion. The cases further highlight that the onset of IRIS may be delayed for several months after HAART is started.

  4. 试论肾虚痹证(类风湿性关节炎)发育生物学基础%Background of Developmental Biology on Bi Syndrome of the Deficiency of Kidney (Rheumatoid Arthritis)

    Institute of Scientific and Technical Information of China (English)

    张浩; 吕爱平

    2003-01-01

    According to traditional Chinese medicine, the kidney promotes the growth and develepment of the body, the deficiency of kidney is a important pathogenesis of Bi syndome (Rheumatoid Arthritis, RA). Modem medicial research shows that RA has abnormality in developmental biology. The paper detects the background of developmental biology on Bi syndrome of the deficiency of kidney.

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

    Science.gov (United States)

    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.

  6. Muscle force and endurance in untreated and human growth hormone or insulin-like growth factor-I-treated patients with growth hormone deficiency or Laron syndrome.

    Science.gov (United States)

    Brat, O; Ziv, I; Klinger, B; Avraham, M; Laron, Z

    1997-01-01

    Muscle force and endurance of four muscle groups (biceps, triceps, hamstrings and quadriceps) were measured by a computerized device in three groups: (A) 4 boys with isolated growth hormone deficiencies (IGHD) examined before at 10 and 24 months of hGH treatment; (B) 5 children (2 F, 3 M) with Laron syndrome were examined 3.5-4 years after initiation of insulin-like growth factor-I (IGF-I) treatment, and (C) comprised 8 untreated adults (5 F, 3 M) with Laron syndrome. For each patient, 2 matched controls, by age, sex, physical activity and height below the 50th percentile, were examined. GH- or IGF-I-deficient patients before treatment revealed reduced muscle force and endurance. GH treatment (0.6 U/kg/week) restored muscle force and endurance, progressively, mainly in the boys with puberty. Three to 4 years of IGF-I treatment (150 micrograms/kg/day) in patients with Laron syndrome proved to have a weaker effect than GH in restoring muscle force. The difference in effectiveness between hGH and IGF-I in restoring muscle force may be due to either the more marked muscle underdevelopment in Laron syndrome patients than in patients with IGHD or a difference in action potential between the two hormones.

  7. Computational analysis of HIV-1 resistance based on gene expression profiles and the virus-host interaction network.

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    Tao Huang

    Full Text Available A very small proportion of people remain negative for HIV infection after repeated HIV-1 viral exposure, which is called HIV-1 resistance. Understanding the mechanism of HIV-1 resistance is important for the development of HIV-1 vaccines and Acquired Immune Deficiency Syndrome (AIDS therapies. In this study, we analyzed the gene expression profiles of CD4+ T cells from HIV-1-resistant individuals and HIV-susceptible individuals. One hundred eighty-five discriminative HIV-1 resistance genes were identified using the Minimum Redundancy-Maximum Relevance (mRMR and Incremental Feature Selection (IFS methods. The virus protein target enrichment analysis of the 185 HIV-1 resistance genes suggested that the HIV-1 protein nef might play an important role in HIV-1 infection. Moreover, we identified 29 infection information exchanger genes from the 185 HIV-1 resistance genes based on a virus-host interaction network analysis. The infection information exchanger genes are located on the shortest paths between virus-targeted proteins and are important for the coordination of virus infection. These proteins may be useful targets for AIDS prevention or therapy, as intervention in these pathways could disrupt communication with virus-targeted proteins and HIV-1 infection.

  8. Virtual Screening Models for Prediction of HIV-1 RT Associated RNase H Inhibition

    DEFF Research Database (Denmark)

    Poongavanam, Vasanthanathan; Kongsted, Jacob

    2013-01-01

    The increasing resistance to current therapeutic agents for HIV drug regiment remains a major problem for effective acquired immune deficiency syndrome (AIDS) therapy. Many potential inhibitors have today been developed which inhibits key cellular pathways in the HIV cycle. Inhibition of HIV-1...... of choice in terms of best retrieval of active from inactive compounds and efficiency and efficacy schemes. Moreover, shape similarity, machine learning and FLAP models could also be used for further validation or filtration in virtual screening processes. The best models could potentially be use...

  9. The analysis of HIV/AIDS drug-resistant on networks

    Science.gov (United States)

    Liu, Maoxing

    2014-01-01

    In this paper, we present an Human Immunodeficiency Virus (HIV)/Acquired Immune Deficiency Syndrome (AIDS) drug-resistant model using an ordinary differential equation (ODE) model on scale-free networks. We derive the threshold for the epidemic to be zero in infinite scale-free network. We also prove the stability of disease-free equilibrium (DFE) and persistence of HIV/AIDS infection. The effects of two immunization schemes, including proportional scheme and targeted vaccination, are studied and compared. We find that targeted strategy compare favorably to a proportional condom using has prominent effect to control HIV/AIDS spread on scale-free networks.

  10. ORAL NON-HODGKIN’S LYMPHOMA IN PATIENT WITH HIV: A CASE REPORT

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    Kendre Ajita

    2009-12-01

    Full Text Available Non-Hodgkin’s Lymphoma belongs to group of lymphoid neoplasm, which may be a presenting symptom in HIV patient who is immuno compromised.The close association of NHL with HIV infection is formally recognized by the fact that NHL is designated as an Acquired Immuno Deficiency Syndrome defining condition. Oral involvement primarily is not so common in these patients but if involved, they often involve gingiva or palatal region. Here we report a case of Non Hodgkin Lymphoma (NHL with HIV who presented with primarily involvement of gingiva & palate by NHL.

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

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    Frank Fornari

    2011-11-01

    Full Text Available 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

  12. Screening non-classical 21-hydroxylase gene deficiency from patients diagnosed as polycystic ovary syndrome by gene assay

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    Jie HU

    2016-04-01

    Full Text Available Objective  To screen non-classical 21-hydroxylase deficiency (NC-21OHD from patients diagnosed as polycystic ovary syndrome (PCOS by gene assay. Methods  Ninety-eight patients with PCOS were enrolled according to 2003 Rotterdam criteria from Department of Endocrinology, Tangdu Hospital of Fourth Military Medical University, and they were divided into three groups according to the modified Ferriman-Gallway (mF-G score as follows: group A with score 0-2; group B with score 3-5, and group C with score ≥6. Meanwhile, 30 healthy subjects from the Medical Center of the Hospital were recruited as control group. Peripheral blood of all subjects were collected for extracting DNA, the CYP21A2 gene were amplified by 5 pairs of specific primers, and then the PCR products were sequenced by Shanghai Sangon Co. The subjects would accept test for serum cortisol and adrenocorticotropic hormone (ACTH at 8:00am if their CYP21A2 was proved to be abnormal. Results  Thirty subjects of control group had no any defects in CYP21A2, but 5 of 98 patients with PCOS were proved to be deficient in CYP21A2, and the genotypes were V281L/920-921insT (P1, V281L/I230M (P2, V281L/Normal (P3, P4, P5, respectively, and all of them were heterozygous mutations. The incidences of NC-21OHD in group C and B were 28.6% and 3.3%, respectively. Genotype P1 had been identified to belong to NC-21OHD, which was consistent with its clinical phenotype. All genotypes P3, P4 and P5 belonged to carriers. But for P2, since I230M hadn't been reported in literature, the patient with V281L/I230M couldn't be classified now. Serum biochemical results showed that only in P1 the cortisol was close to the normal lower level, and ACTH was close to the normal upper limit of the reported level in the literature, and the remainders were all normal. Conclusions  Although PCOS and NC-21OHD are very similar in clinical manifestations, they are different completely in the pathogenesis and treatment. So it

  13. Deficient reporting and interpretation of non-inferiority randomized clinical trials in HIV patients: a systematic review.

    Directory of Open Access Journals (Sweden)

    Adrian V Hernandez

    Full Text Available OBJECTIVES: Non-inferiority (NI randomized clinical trials (RCTs commonly evaluate efficacy of new antiretroviral (ARV drugs in human immunodeficiency virus (HIV patients. Their reporting and interpretation have not been systematically evaluated. We evaluated the reporting of NI RCTs in HIV patients according to the CONSORT statement and assessed the degree of misinterpretation of RCTs when NI was inconclusive or not established. DESIGN: Systematic review. METHODS: PubMed, Web of Science, and Scopus were reviewed until December 2011. Selection and extraction was performed independently by three reviewers. RESULTS: Of the 42 RCTs (n = 21,919; range 41-3,316 selected, 23 were in ARV-naïve and 19 in ARV-experienced patients. Twenty-seven (64% RCTs provided information about prior RCTs of the active comparator, and 37 (88% used 2-sided CIs. Two thirds of trials used a NI margin between 10 and 12%, although only 12 explained the method to determine it. Blinding was used in 9 studies only. The main conclusion was based on both intention-to-treat (ITT and per protocol (PP analyses in 5 trials, on PP analysis only in 4 studies, and on ITT only in 31 studies. Eleven of 16 studies with NI inconclusive or not established highlighted NI or equivalence, and distracted readers with positive secondary results. CONCLUSIONS: There is poor reporting and interpretation of NI RCTs performed in HIV patients. Maximizing the reporting of the method of NI margin determination, use of blinding and both ITT and PP analyses, and interpreting negative NI according to actual primary findings will improve the understanding of results and their translation into clinical practice.

  14. Síndrome de Parsonage-Turner: relato de caso em paciente HIV soropositivo Parsonage-Turner Syndrome: case report of a HIV seropositive patient

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    Saulo Gomes de Oliveira

    2010-01-01

    Full Text Available A síndrome de Parsonage-Turner é uma doença rara que acomete a musculatura da cintura escapular levando à hipotrofia muscular e grande déficit motor. A etiologia é indeterminada; acredita-se que existam fatores infecciosos e autoimunes envolvidos. O diagnóstico é de exceção, e os principais diagnósticos diferenciais são hérnias discais cervicais, lesões do manguito rotador e doenças reumáticas. Na investigação diagnóstica realizamos exames laboratoriais, radiografias e ressonância magnética dos ombros e da coluna cervical com destaque para a eletroneuromiografia auxiliando no diagnóstico definitivo. Por se tratar de uma doença raramente associada à soropositividade do vírus HIV e pela importância do diagnóstico precoce para o melhor tratamento destes pacientes é que relatamos este caso.The Parsonage-Turner Syndrome is a rare disease that affects the muscles of the scapular girdle, leading to muscular atrophy and a large motor deficit. The etiology is unknown, but it is believed that infectious and autoimmune factors are involved. The diagnosis is made by exclusion, and the main differential diagnoses are cervical disc hernias, rotator cuff injuries and rheumatic diseases. During diagnostic research, we conducted laboratory tests, radiographs and MRI of the shoulder and cervical spine, with particular reference to electroneuromyography to help generate a definitive diagnosis. This case report is presented because it shows a disease that is rarely associated with HIV seropositivity and the importance of early diagnosis for better treatment of these patients.

  15. Human Immunodeficiency Virus Infection (HIV)/Acquired Immune Deficiency Syndrome (AIDS) Merge Non-tuberculous Mycobacteria (NTM) Analyzed 138 Cases of Pulmonary Adverse Treatment%人类免疫缺陷病毒感染(HIV)/艾滋病(AIDS)合并非结核分枝杆菌(NTM)肺病138例治疗不良反应分析

    Institute of Scientific and Technical Information of China (English)

    银春莲; 谢周华; 裴洁; 阮光靖

    2015-01-01

    Objective: to investigate the incidence of adverse reactions and the treatment methods during cure HiV /aids combined ntM lung disease. Methods:the adverse reactions and the treatment methods in 138 patients ,who with (HiV)/(aids) merge ntM lung disease, were therapy in our hospital from 2010 to 2013,were retrospectively analyzed, the speciifc content including the age and sex of patient, the occurrence time, types, clinical manifestations and treatment measures of adverse drug reactions in the therapeutic process. Results:70%of adverse drug reactions occurred in 1~2 months after treatment were observed. the top 3 major causes:drug-induced liver injury were observed in 56 cases, drug rash were observed in 34 cases, hyperuricemia were observed in 28 cases. 76%of drug-induced liver injury with hyperuricemia in patients had no remarkable symptoms.adverse drug reactions in Males more than in male.More common in 58~70 years. after symptomatic treatment,chang or stop suspected drugs or stop all drugs, adverse drug reactions disappear, patients condition gradually improved. Conclusion: in the therapeutic process of (HiV) / (aids) merge ntM lung disease, We should pay attention to monitor adverse drug reactions , especially males and elderly patients, even if they have no obvious clinical symptoms, they should be closely observed, periodic review, early detection and proper treatment, to avoid serious adverse drug reactions.%目的:探讨HiV/aids合并ntM肺病治疗过程中不良反应的发生情况以及采用处理方法。方法回顾性分析我院2010~2013年138例HiV/aids合并ntM肺病患者治疗过程中发生药物不良反应的发生时间、发生种类、临床表现、年龄、性别以及处理措施。结果70%的药物不良反应发生在用药1~2个月。发生居前三位为:药物性肝损伤56例,药物性皮疹34例,高尿酸血症28例。76%的药物性肝损伤及高尿酸血症患者无明显临床症状。男性比女性多见。58

  16. Dopaminergic deficiency syndrome in the picture of severe brain injury in the presence of protracted depression of consciousness

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    M. V. Chelyapina

    2014-01-01

    Full Text Available Objective: to determine the clinical and electroencephalographic (EEG signs of dopaminergic deficiency (DD when recovering consciousness in patients with severe brain injury (SBI.Patients and methods. Thirty-five patients (23 men and 12 women; mean age 29±13 years, who had experienced SBI accompanied by coma (mean duration 17±6 days and treated at the Acad. N.N. Burdenko Research Institute of Neurosurgery, were examined. The comprehensive examination included neurological and mental status evaluation and EEG with dynamic assessment of the pattern.Results and discussion. The authors defined a constellation of neurological symptoms as increased extrapyramidal muscle tone, resting tremor, and specific autonomic dysfunction, which was characteristic of autonomic status and some forms of mutism, and, in accordance with the data available in the literature, was defined as DD syndrome. The latter accompanied by characteristic EEG changes: its pattern’s higher synchronized β-activity (13–14 Hz enhanced in the frontal and anterior temporal regions. The administration of amantadine sulfate was followed by an increase (even as compared with the normal value in the dynamics of the power of mainly of β3 (at frequencies of 17–23 Hz and θ2 (5.9–7.4 Hz bands along the anterior regions more frequently on the right; by the amplification of intrahemispheric connections (in the occipitotemporal regions in the β3 band (more often on the right and θ one (5.9–7.4 Hz in the right occipitotemporal region. The agent had no significant effect on the SBI outcome assessed 12 months after injury, but it affected the clinical symptoms of DD.

  17. Mitochondrial respiratory chain enzyme assay and DNA analysis in peripheral blood leukocytes for the etiological study of Chinese children with Leigh syndrome due to complex I deficiency.

    Science.gov (United States)

    Ma, Yan Yan; Wu, Tong Fei; Liu, Yu Peng; Wang, Qiao; Li, Xi Yuan; Zhang, Yao; Song, Jin Qing; Wang, Yu Jie; Yang, Yan Ling

    2013-02-01

    Mitochondrial respiratory chain complex I enzyme deficiency is the most commonly seen mitochondrial respiratory chain disorder. Although screening and diagnostic methods are available overseas, clinically feasible diagnostic methods have not yet been established in China. In this study, four Chinese boys with Leigh syndrome due to complex I deficiency were diagnosed by mitochondrial respiratory chain enzyme assay and DNA analysis using peripheral blood leukocytes. Four patients were admitted at the age of 5-14 years because of unexplained progressive neuromuscular symptoms, including motor developmental delay or regression, weakness, and seizures. Their cranial magnetic resonance imaging revealed typical finding as Leigh syndrome. Peripheral leukocyte mitochondrial respiratory chain complex I activities were found decreased to 9.6-33.1 nmol/min/mg mitochondrial protein(control 44.0 ± 5.4 nmol/min/mg). The ratios of complex I to citrate synthase activity were also decreased (8.9-19.8% in patients vs. control 48 ± 11%). Three mtDNA mutations were identified from three out of four patients, supporting the diagnosis of complex I deficiency. Point mutations m.10191T>C in mitochondrial ND3 gene, m.13513G>A in ND5 gene and m.14,453G>A in ND6 gene were detected in three patients.

  18. An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome.

    Science.gov (United States)

    Abdollahpour, Hengameh; Alawi, Malik; Kortüm, Fanny; Beckstette, Michael; Seemanova, Eva; Komárek, Vladimír; Rosenberger, Georg; Kutsche, Kerstin

    2015-02-01

    The recently proposed adaptor protein 4 (AP-4) deficiency syndrome comprises a group of congenital neurological disorders characterized by severe intellectual disability (ID), delayed or absent speech, hereditary spastic paraplegia, and growth retardation. AP-4 is a heterotetrameric protein complex with important functions in vesicle trafficking. Mutations in genes affecting different subunits of AP-4, including AP4B1, AP4E1, AP4S1, and AP4M1, have been reported in patients with the AP-4 deficiency phenotype. We describe two siblings from a non-consanguineous couple who presented with severe ID, absent speech, microcephaly, growth retardation, and progressive spastic tetraplegia. Whole-exome sequencing in the two patients identified the novel homozygous 2-bp deletion c.1160_1161delCA (p.(Thr387Argfs*30)) in AP4B1. Sanger sequencing confirmed the mutation in the siblings and revealed it in the heterozygous state in both parents. The AP4B1-associated phenotype has previously been assigned to spastic paraplegia-47. Identification of a novel AP4B1 alteration in two patients with clinical manifestations highly similar to other individuals with mutations affecting one of the four AP-4 subunits further supports the observation that loss of AP-4 assembly or functionality underlies the common clinical features in these patients and underscores the existence of the clinically recognizable AP-4 deficiency syndrome.

  19. Mice Exposed to Chronic Intermittent Hypoxia Simulate Clinical Features of Deficiency of both Qi and Yin Syndrome in Traditional Chinese Medicine.

    Science.gov (United States)

    Chai, Chengzhi; Kou, Junping; Zhu, Danni; Yan, Yongqing; Yu, Boyang

    2011-01-01

    Deficiency of both Qi and Yin Syndrome (DQYS) is one of the common syndromes in traditional Chinese medicine (TCM), mainly characterized by tiredness, emaciation, anorexia, fidget, palpitation and rapid pulse, and so forth. Currently, there is no available animal model which can reflect the clinical features of this syndrome. In the present paper, we observed the time-course changes of whole behavior, body weight, food intake, locomotive activity and electrocardiogram in mice exposed to chronic intermittent hypoxia for 6 weeks, and measured bleeding time at last according to the clinical features of DQYS and one key pathological factor. The results showed that the mice exposed to intermittent hypoxia for certain time presented lackluster hair, dull looking hair, resistance, attacking, body weight loss, food intake decline, locomotive activity decrease, heart rate quickening and T wave elevating, which were similar to the major clinical features of DQYS. Meanwhile, bleeding time shortening was also found, which was consistent with the clinical fact that DQYS often accompanied with blood stasis. The possible explanation was also outlined according to the available literature. Such findings suggested chronic intermittent hypoxia could induce similar symptoms and signs in mice accorded with the clinical features of DQYS, which provided a suitable animal model for evaluation of drugs for the treatment of this syndrome and further exploration of pathological process or correlation of the syndrome and related diseases.

  20. Mice Exposed to Chronic Intermittent Hypoxia Simulate Clinical Features of Deficiency of both Qi and Yin Syndrome in Traditional Chinese Medicine

    Directory of Open Access Journals (Sweden)

    Chengzhi Chai

    2011-01-01

    Full Text Available Deficiency of both Qi and Yin Syndrome (DQYS is one of the common syndromes in traditional Chinese medicine (TCM, mainly characterized by tiredness, emaciation, anorexia, fidget, palpitation and rapid pulse, and so forth. Currently, there is no available animal model which can reflect the clinical features of this syndrome. In the present paper, we observed the time-course changes of whole behavior, body weight, food intake, locomotive activity and electrocardiogram in mice exposed to chronic intermittent hypoxia for 6 weeks, and measured bleeding time at last according to the clinical features of DQYS and one key pathological factor. The results showed that the mice exposed to intermittent hypoxia for certain time presented lackluster hair, dull looking hair, resistance, attacking, body weight loss, food intake decline, locomotive activity decrease, heart rate quickening and T wave elevating, which were similar to the major clinical features of DQYS. Meanwhile, bleeding time shortening was also found, which was consistent with the clinical fact that DQYS often accompanied with blood stasis. The possible explanation was also outlined according to the available literature. Such findings suggested chronic intermittent hypoxia could induce similar symptoms and signs in mice accorded with the clinical features of DQYS, which provided a suitable animal model for evaluation of drugs for the treatment of this syndrome and further exploration of pathological process or correlation of the syndrome and related diseases.

  1. APOBEC3G对HIV-1及其Vif缺失株的抑制作用%Restriction of HIV-1 and the Vif-deficiency strain by APOBEC3G

    Institute of Scientific and Technical Information of China (English)

    李岚; 曾毅

    2011-01-01

    Objective To study the restriction of HIV-1 and the Vif-deficient strain. Methods Viruses of HIV-1 wild type( BH10 WT) or the Vd-deficient strain( BH10 ΔVif) produced from transfected 293T cells were used to infect various cell lines, including MT4 and H9. The results were determined by reverse transcriptase ( RTase ) assay. Molecular-cloning technique was used to construct expression plasmid pEGFP-3G which express APOBEC3G with a C-terminal GFP tag. The virus strains of BH10 WT or BH10 ΔVif co-transfection with different dose of pEGFP-3G in 293T cells, and the expression of APOBEC3G-GFP was observed by live cell fluorescence microscopy. The infectivity of virus was determined by multinuclear activation of galactosidase indicator(MAGI) assay and RTase assay. Results BH10 WT replication in MT4 cells showed much faster replication kinetics than that in H9 cells, with peak RT values being observed as early as 4 days post-infection. RT activity of BH10 ΔVif in H9 cells was suppressed almost to the level of negative control and that in MT4 cells was observed on the 12th day. GFP-APOBEC3G and a GFP-only control localized to the cytoplasmic and cell-wide, respectively. The titer of BH10 ΔVif by MAGI assay is about 2.75 × 104 U/mL. The titer of viruses, produced in 293T cells by cotransfection with increasing amounts of APOBEC3G, was significantly reduced from 1.48 × 103 U/mL to 0.33 × 103 U/mL. The infectivity of BH10 ΔVif produced in the presence of 0.2 μg of co-transfected pEGFP-3G was twenty fold less infectious than BH10 ΔVif produced in the absence of APOBEC3G.Conclusion The anti-HIV activity of APOBEC3G was dose-dependent, and HIV-1 Vif has the essential role in the virus replication. Based on the results we would construct a new platform to accurately and promptly select efficacious drugs.%目的 研究细胞内在抗病毒因子APOBEC3G对HIV-1及其Vif缺失株的抑制作用.方法 HIV-1野生株病毒(BH10 WT)和Vif缺失株病毒(BH10

  2. 脾气虚型HIV/AIDS患者淋巴细胞线粒体功能状态在常温和热应激条件下的改变情况%Changes of lymphocytes mitochondrial function in room temperature and heat stress conditions in patients with HIV/AIDS of spleen deficiency type

    Institute of Scientific and Technical Information of China (English)

    孙萌; 刘颖; 王克林; 徐淑玲; 孙刚; 王笑红; 翟志光; 杨凤珍; 王健

    2013-01-01

    研究比较脾气虚证人类获得性免疫缺陷病毒患者(HIV/AIDS患者)与健康人群淋巴细胞在37℃和40℃条件(模拟热应激)下,淋巴细胞线粒体膜电位差异,结果显示脾气虚证HIV/AIDS患者淋巴细胞线粒体膜电位明显下降,特别是在热应激条件下(40℃孵育1h),反映了其机体在发热情况下能量代谢功能的下降,另一方面揭示了HIV/AIDS患者脾气虚病机的部分细胞免疫学基础,为中医药防治HIV/AIDS提供理论支持和依据.%The research compare the mitochondrial membrane potential (△Ψ) of lymphocytes in healthy people with in HIV/AIDS infector of spleen qi deficiency.The results indicated that the mitochondrial membrane potential (△Ψ) of lymphocytes in HIV/AIDS infection was obviously lower than in healthy people,especially in the condition of heat stress (1 hour incubation on 40℃),to reflect the function of energy metabolism in the HIV/AIDS infector of spleen qi deficiency descent under the condition of fever,and on the other hand to reveal their pathogenesis of cellular immunology.Through the exploration,the theoretical evidence was provided for HIV/AIDS prevention and cure by Traditional Chinese Medicine.

  3. HIV-tuberculosis-associated immune reconstitution inflammatory syndrome is characterized by Toll-like receptor and inflammasome signalling.

    Science.gov (United States)

    Lai, Rachel P J; Meintjes, Graeme; Wilkinson, Katalin A; Graham, Christine M; Marais, Suzaan; Van der Plas, Helen; Deffur, Armin; Schutz, Charlotte; Bloom, Chloe; Munagala, Indira; Anguiano, Esperanza; Goliath, Rene; Maartens, Gary; Banchereau, Jacques; Chaussabel, Damien; O'Garra, Anne; Wilkinson, Robert J

    2015-09-24

    Patients with HIV-associated tuberculosis (TB) initiating antiretroviral therapy (ART) may develop immune reconstitution inflammatory syndrome (TB-IRIS). No biomarkers for TB-IRIS have been identified and the underlying mechanisms are unclear. Here we perform transcriptomic profiling of the blood samples of patients with HIV-associated TB. We identify differentially abundant transcripts as early as week 0.5 post ART initiation that predict downstream activation of proinflammatory cytokines in patients who progress to TB-IRIS. At the characteristic time of TB-IRIS onset (week 2), the signature is characterized by over-representation of innate immune mediators including TLR signalling and TREM-1 activation of the inflammasome. In keeping with the transcriptional data, concentrations of plasma cytokines and caspase-1/5 are elevated in TB-IRIS. Inhibition of MyD88 adaptor and group 1 caspases reduces secretion of cytokines including IL-1 in TB-IRIS patients. These data provide insight on the pathogenesis of TB-IRIS and may assist the development of specific therapies.

  4. HIV-1/HAART-Related Lipodystrophy Syndrome (HALS Is Associated with Decreased Circulating sTWEAK Levels.

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    Miguel López-Dupla

    Full Text Available Obesity and HIV-1/HAART-associated lipodystrophy syndrome (HALS share clinical, pathological and mechanistic features. Tumor necrosis factor-like weak inducer of apoptosis (TWEAK is a multifunctional cytokine that plays an important role in obesity and related diseases. We sought to explore the relationship between HALS and circulating levels of soluble (s TWEAK and its scavenger receptor sCD163.This was a cross-sectional multicenter study of 120 HIV-1-infected patients treated with a stable HAART regimen; 56 with overt HALS and 64 without HALS. Epidemiological and clinical variables were determined. Serum levels of sTWEAK and sCD163 levels were measured by ELISA. Results were analyzed with Student's t-test, Mann-Whitney U and χ2 test. Pearson and Spearman correlation were used to estimate the strength of association between variables.Circulating sTWEAK was significantly decreased in HALS patients compared with non-HALS patients (2.81±0.2 vs. 2.94±0.28 pg/mL, p = 0.018. No changes were observed in sCD163 levels in the studied cohorts. On multivariate analysis, a lower log sTWEAK concentration was independently associated with the presence of HALS (OR 0.027, 95% CI 0.001-0.521, p = 0.027.HALS is associated with decreased sTWEAK levels.

  5. Prevalence of metabolic syndrome, discrete or comorbid diabetes and hypertension in sub-Saharan Africa among people living with HIV versus HIV-negative populations: a systematic review and meta-analysis protocol.

    Science.gov (United States)

    Todowede, Olamide O; Sartorius, Benn

    2017-07-09

    Metabolic disorder and high blood pressure are common complications globally, and specifically among people living with HIV (PLHIV). Diabetes, metabolic syndrome and hypertension are major risk factors for cardiovascular diseases and their related complications. However, the burden of metabolic syndrome, discrete or comorbid diabetes and hypertension in PLHIV compared with HIV-negative population has not been quantified. This review and meta-analysis aims to compare and analyse the prevalence of these trio conditions between HIV-negative and HIV-positive populations in sub-Saharan Africa (SSA). The Preferred Reporting Items for Systematic Reviews and Meta-Analysis statement guides the methods for this study. Eligibility criteria will be published original articles (English and French language) from SSA that present the prevalence of metabolic syndrome, discrete and/or comorbid diabetes, and hypertension comparisons between PLHIV and HIV-negative populations. The following databases will be searched from January 1990 to February 2017: PubMed/Medline, EBSCOhost, Web of Science, Google Scholar, Scopus, African Index Medicus and Cochrane Database of Systematic Reviews. Eligibility screening and data extraction will be conducted independently by two reviewers, and disagreements resolved by an independent reviewer. Methodological quality and risk of bias will be assessed for individual included studies, while meta-analysis will be used to estimate study outcomes prevalence according to subgroups. Sensitivity analysis will also be performed to further test the robustness of the findings. This proposed study does not require ethical approval. The results will be published as a scientific article in a peer-reviewed journal, and presented at conferences and to relevant health agencies. PROSPERO registration number (CRD42016045727). © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is

  6. The most significant deficiencies in macro and micro nutrients in adolescents living with HIV/AIDS in antiretroviral therapy

    Directory of Open Access Journals (Sweden)

    Fernanda Bissigo Pereira

    Full Text Available Objective: To evaluate macro and micronutrients intake of adolescents living with HIV/AIDS in use of antiretroviral therapy and compare it to the Dietary Reference Intakes. Methodology: Cross-sectional study conducted with adolescents of both genders with HIV/AIDS, assessing the dietary composition of macro and micronutrients, using the 24h dietary recall. Results: 39 adolescents, average age of 15 years, 51.3% males. The participants intake of total calories, total fiber (g/d, liposoluble vitamins (A, D, E, K, vitamin B5 (mg/d, vitamin B9 (mg/d, vitamin C (mg/d, calcium (mg/d, phosphorus (mg/d, potassium (mg/d, and magnesium (mg/d was lower than recommended. The percentages of intake lower than recommended were 79.5% for calories, 82.1% for total fibers, 89.7% for vitamin A, 100% for vitamin D, 87.2% for vitamin E, 100% for vitamin K, 71.8% for vitamin B5, 82.1% for vitamin B9, 76.9% for vitamin C, 92.3% for calcium, 61.5% for phosphorus, 97.4% for potassium, and 76.9% for magnesium. The participants ingested more carbohydrates (g, proteins (g, vitamins B2 (mg/d, B3 (mg/d, B8 (mg/d and sodium (g/d than recommended, the percentages above the recommendations being 92.3% for carbohydrates, 64.1% for proteins and vitamin B2, 56.4% for vitamin B3, 82.1% for vitamin B8, and 59% for sodium. The remaining nutrients were within the amounts recommended by the DRIs. Conclusion: Food intake was inadequate as compared to the recommendations of the International Nutrition Guidelines.

  7. Investigation of perceived stigma among people living with human immunodeficiency virus/acquired immune deficiency syndrome in Henan Province, China

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    Zhen Li

    2014-12-01

    Conclusion: The level of perceived HIV stigma and discrimination among PLWHA in Henan Province is moderate and was affected by the level of education and route of infection. Special intervention should be established to address this problem.

  8. Increased burden and severity of metabolic syndrome and arterial stiffness in treatment naïve HIV+ patients from Cameroon

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    Ngatchou W

    2013-09-01

    Full Text Available William Ngatchou,1 Daniel Lemogoum,1 Pierre Ndobo,2,† Euloge Yagnigni,2 Emiline Tiogou,2 Elisabeth Nga,2 Charles Kouanfack,2 Philippe van de Borne,1 Michel P Hermans3 1Hypertension Clinic, Erasme University Hospital, Brussels, Belgium; 2Department of Cardiology, Central Hospital, Yaoundé, Cameroon; 3Department of Endocrinology and Nutrition, Cliniques Universitaires St-Luc, Brussels, Belgium †Professor Pierre Ndobo passed away on January 21, 2013 Background: Human immunodeficiency virus (HIV and its therapy are associated with increased aortic stiffness and metabolic syndrome (MetS phenotype in Caucasian patients. We hypothesized that, independently of antiretroviral therapy, HIV infection in native black African patients is associated with increased burden of cardiometabolic risk factors that may accelerate arterial structural damage and translate into increased aortic stiffness. Patients and methods: Ninety-six apparently healthy Cameroonian subjects (controls were compared to 108 untreated Cameroonian HIV+ patients (HIV-UT of similar age. In each participant, pulse wave velocity (Complior, aortic augmentation index (SphygmoCor, brachial blood pressure (Omron 705 IT, fasting plasma glucose (FPG, and lipids were recorded, as well as the prevalence and severity of MetS, based on the American Heart Association/National Heart, Lung, and Blood Institute score ≥3/5. Results: Prevalence of impaired fasting glucose (FPG 100–125 mg · dL-1 and of diabetes (FPG > 125 mg · dL-1 was higher in HIV-UT than in controls (47% versus 27%, and 26% versus 1%, respectively; both P < 0.01. Fasting triglycerides and the atherogenic dyslipidemia ratio were significantly higher in HIV-UT than in controls. Hypertension prevalence was high and comparable in both groups (41% versus 44%, respectively; not significant. HIV-UT patients exhibited a twice-higher prevalence of MetS than controls (47% versus 21%; P = 0.02. Age- and sex-adjusted pulse wave velocity was

  9. Gut microbial diversity analysis using Illumina sequencing for functional dyspepsia with liver depression-spleen deficiency syndrome and the interventional Xiaoyaosan in a rat model

    Science.gov (United States)

    Qiu, Juan-Juan; Liu, Zhe; Zhao, Peng; Wang, Xue-Jun; Li, Yu-Chun; Sui, Hua; Owusu, Lawrence; Guo, Hui-Shu; Cai, Zheng-Xu

    2017-01-01

    AIM To investigate gut microbial diversity and the interventional effect of Xiaoyaosan (XYS) in a rat model of functional dyspepsia (FD) with liver depression-spleen deficiency syndrome. METHODS The FD with liver depression-spleen deficiency syndrome rat model was established through classic chronic mild unpredictable stimulation every day. XYS group rats received XYS 1 h before the stimulation. The models were assessed by parameters including state of the rat, weight, sucrose test result and open-field test result. After 3 wk, the stools of rats were collected and genomic DNA was extracted. PCR products of the V4 region of 16S rDNA were sequenced using a barcoded Illumina paired-end sequencing technique. The primary composition of the microbiome in the stool samples was determined and analyzed by cluster analysis. RESULTS Rat models were successfully established, per data from rat state, weight and open-field test. The microbiomes contained 20 phyla from all samples. Firmicutes, Bacteroidetes, Proteobacteria, Cyanobacteria and Tenericutes were the most abundant taxonomic groups. The relative abundance of Firmicutes, Proteobacteria and Cyanobacteria in the model group was higher than that in the normal group. On the contrary, the relative abundance of Bacteroidetes in the model group was lower than that in the normal group. Upon XYS treatment, the relative abundance of all dysregulated phyla was restored to levels similar to those observed in the normal group. Abundance clustering heat map of phyla corroborated the taxonomic distribution. CONCLUSION The microbiome relative abundance of FD rats with liver depression-spleen deficiency syndrome was significantly different from the normal cohort. XYS intervention may effectively adjust the gut dysbacteriosis in FD. PMID:28223725

  10. Autophagy in Mycobacterium tuberculosis and HIV infections

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    Lucile eEspert

    2015-06-01

    Full Text Available Human Immunodeficiency Virus (HIV and Mycobacterium tuberculosis (M.tb are among the most lethal human pathogens worldwide, each being responsible for around 1.5 million deaths annually. Moreover, synergy between acquired immune deficiency syndrome (AIDS and tuberculosis (TB has turned HIV/M.tb co-infection into a major public health threat in developing countries. In the past decade, autophagy, a lysosomal catabolic process, has emerged as a major host immune defense mechanism against infectious agents like M.tb and HIV. Nevertheless, in some instances, autophagy machinery appears to be instrumental for HIV infection. Finally, there is mounting evidence that both pathogens deploy various countermeasures to thwart autophagy. This mini-review proposes an overview of the roles and regulations of autophagy in HIV and M.tb infections with an emphasis on microbial factors. We also discuss the role of autophagy manipulation in the context of HIV/M.tb co-infection. In future, a comprehensive understanding of autophagy interaction with these pathogens will be critical for development of autophagy-based prophylactic and therapeutic interventions for AIDS and TB.

  11. Antiviral Therapy by HIV-1 Broadly Neutralizing and Inhibitory Antibodies

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    Zhiqing Zhang

    2016-11-01

    Full Text Available Human immunodeficiency virus type 1 (HIV-1 infection causes acquired immune deficiency syndrome (AIDS, a global epidemic for more than three decades. HIV-1 replication is primarily controlled through antiretroviral therapy (ART but this treatment does not cure HIV-1 infection. Furthermore, there is increasing viral resistance to ART, and side effects associated with long-term therapy. Consequently, there is a need of alternative candidates for HIV-1 prevention and therapy. Recent advances have discovered multiple broadly neutralizing antibodies against HIV-1. In this review, we describe the key epitopes on the HIV-1 Env protein and the reciprocal broadly neutralizing antibodies, and discuss the ongoing clinical trials of broadly neutralizing and inhibitory antibody therapy as well as antibody combinations, bispecific antibodies, and methods that improve therapeutic efficacy by combining broadly neutralizing antibodies (bNAbs with latency reversing agents. Compared with ART, HIV-1 therapeutics that incorporate these broadly neutralizing and inhibitory antibodies offer the advantage of decreasing virus load and clearing infected cells, which is a promising prospect in HIV-1 prevention and treatment.

  12. Antiviral Therapy by HIV-1 Broadly Neutralizing and Inhibitory Antibodies.

    Science.gov (United States)

    Zhang, Zhiqing; Li, Shaowei; Gu, Ying; Xia, Ningshao

    2016-11-18

    Human immunodeficiency virus type 1 (HIV-1) infection causes acquired immune deficiency syndrome (AIDS), a global epidemic for more than three decades. HIV-1 replication is primarily controlled through antiretroviral therapy (ART) but this treatment does not cure HIV-1 infection. Furthermore, there is increasing viral resistance to ART, and side effects associated with long-term therapy. Consequently, there is a need of alternative candidates for HIV-1 prevention and therapy. Recent advances have discovered multiple broadly neutralizing antibodies against HIV-1. In this review, we describe the key epitopes on the HIV-1 Env protein and the reciprocal broadly neutralizing antibodies, and discuss the ongoing clinical trials of broadly neutralizing and inhibitory antibody therapy as well as antibody combinations, bispecific antibodies, and methods that improve therapeutic efficacy by combining broadly neutralizing antibodies (bNAbs) with latency reversing agents. Compared with ART, HIV-1 therapeutics that incorporate these broadly neutralizing and inhibitory antibodies offer the advantage of decreasing virus load and clearing infected cells, which is a promising prospect in HIV-1 prevention and treatment.

  13. Vocational Rehabilitation Services to Persons with H.I.V. (AIDS). Institute on Rehabilitation Issues (16th, Savannah, Georgia). Report from the Study Group.

    Science.gov (United States)

    Corthell, David W.; Oliverio, Michael

    This training manual addresses the vocational rehabilitation (VR) of persons with the Human Immunodeficiency Virus (HIV) or AIDS (Acquired Immune Deficiency Syndrome) and related conditions. It considers the medical, cultural, social, legal, psychological, and economic implications of this condition; and how these factors relate to the vocational…

  14. Treatable factors associated with severe anaemia in adults admitted to medical wards in Blantyre, Malawi, an area of high HIV seroprevalence.

    NARCIS (Netherlands)

    Lewis, D.K.; Whitty, C.J.; Walsh, A.L.; Epino, H.; Broek, N.R.; Letsky, E.A.; Munthali, C.; Mukiibi, J.M.; Boeree, M.J.

    2005-01-01

    Severe anaemia is a common presentation in non-pregnant adults admitted to hospital in southern Africa. Standard syndromic treatment based on data from the pre-HIV era is for iron deficiency, worms and malaria. We prospectively investigated 105 adults admitted consecutively to medical wards with hae

  15. Relationship Between Health Literacy, Knowledge of Health Status, and Beliefs about HIV/AIDS Transmission among Ryan White Clients in Miami

    Science.gov (United States)

    Mooss, Angela; Brock-Getz, Petra; Ladner, Robert; Fiano, Theresa

    2013-01-01

    Objective: The aim of this study was to examine the relationships between health literacy, knowledge of health status, and human immunodeficiency virus/acquired immune deficiency syndrome (HIV/AIDS) transmission beliefs among recipients of Ryan White care. Design: Quota and convenience sampled, quantitative analysis captured with closed and…

  16. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Blood Tests Blood Transfusion Restless Legs Syndrome Send a link to NHLBI to someone by E-MAIL | ... Iron-Deficiency Anemia? Español Iron-deficiency anemia is a common, easily treated condition that occurs if you ...

  17. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Blood Tests Blood Transfusion Restless Legs Syndrome Send a link to NHLBI to someone by E-MAIL | ... Iron-Deficiency Anemia? Español Iron-deficiency anemia is a common, easily treated condition that occurs if you ...

  18. Epidemiological characteristics of acquired immune deficiency syndrome in Shandong Province from 1992 to 2011%山东省1992年至2011年艾滋病流行特征分析

    Institute of Scientific and Technical Information of China (English)

    张娜; 王国永; 杨兴光; 苏生利; 康殿民; 陶小润

    2013-01-01

    目的 分析山东省AIDS的流行特征,为其预防控制提供依据.方法 对1992年至2011年山东省报告的HIV感染者和AIDS患者(HIV/AIDS)的流行病学资料进行统计分析.结果 1992年至2011年累计报告HIV/AIDS患者4313例;年均报告发病率为2.39/100万,历年报告发病率呈上升趋势;报告发病率居前5位的城市是济南市、青岛市、淄博市、潍坊市和威海市,分别为5.72/100万、4.39/100万、3.29/100万、3.10/100万和3.02/100万;报告男性年均发病率为3.74/100万,高于女性的1.39/100万,差异有统计学意义(x2=743.96,P<0.05);20岁年龄组发病率最高,为5.56/100万;57.18%为性传播感染,同性传播感染数占当年报告病例数的构成比由2004年的1.82%上升到2011年的37.49%.结论 山东省AIDS疫情形势严峻,地区分布不平衡,性传播为主要传播途径,同性传播增加明显.%Objective To investigate the epidemiological characteristics of acquired immune deficiency syndrome (AIDS) in Shandong Province,and to provide scientific evidence for formulating prevention and control strategy and carrying out effective measures.Methods Epidemiological data of reported human immunodeficiency virus (HIV) infection and AIDS cases (HIV/AIDS) in Shandong Province from 1992 to 2011 were analyzed.Results A total of 4313 cases of HIV/AIDS were confirmed and reported by the end of 2011,with an average incidence of 2.39 parts per million (ppm) annually.An upward trend was showed for annual reported incidence.The top 5 cities of incidence were Ji'nan,Qingdao,Zibo,Weifang and Weihai,which were 5.72 ppm,4.39 ppm,3.29 ppm,3.10 ppm and 3.02 ppm,respectively.The average annual reported incidence was 3.74 ppm for male,which was significantly higher than that for female (1.39 ppm; x2 =743.96,P<0.05).The reported incidence was highest among 20-29 age group (5.56 ppm),with 57.18% of homosexual transmission.The proportion of homosexual transmission in annual reported cases

  19. West Syndrome in an Infant with Vitamin B[subscript 12] Deficiency in the Absence of Macrocytic Anaemia

    Science.gov (United States)

    Erol, Ilknur; Alehan, Fusun; Gumus, Ayten

    2007-01-01

    Vitamin B[subscript 12] deficiency in infants often produces haematological and neurological deficits, including macrocytic anaemia, neurodevelopmental delay or regression, irritability, weakness, hypotonia, ataxia, apathy, tremor, and seizures. The diagnosis of vitamin B[subscript 12] deficiency can be difficult when the typical macrocytic…

  20. West Syndrome in an Infant with Vitamin B[subscript 12] Deficiency in the Absence of Macrocytic Anaemia

    Science.gov (United States)

    Erol, Ilknur; Alehan, Fusun; Gumus, Ayten

    2007-01-01

    Vitamin B[subscript 12] deficiency in infants often produces haematological and neurological deficits, including macrocytic anaemia, neurodevelopmental delay or regression, irritability, weakness, hypotonia, ataxia, apathy, tremor, and seizures. The diagnosis of vitamin B[subscript 12] deficiency can be difficult when the typical macrocytic…

  1. Clinical challenges in HIV/AIDS: Hints for advancing prevention and patient management strategies.

    Science.gov (United States)

    Sued, Omar; Figueroa, María Inés; Cahn, Pedro

    2016-08-01

    Acquired immune deficiency syndrome has been one of the most devastating epidemics of the last century. The current estimate for people living with the HIV is 36.9 million. Today, despite availability of potent and safe drugs for effective treatment, lifelong therapy is required for preventing HIV re-emergence from a pool of latently infected cells. However, recent evidence show the importance to expand HIV testing, to offer antiretroviral treatment to all infected individuals, and to ensure retention through all the cascade of care. In addition, circumcision, pre-exposure prophylaxis, and other biomedical tools are now available for included in a comprehensive preventive package. Use of all the available tools might allow cutting the HIV transmission in 2030. In this article, we review the status of the epidemic, the latest advances in prevention and treatment, the concept of treatment as prevention and the challenges and opportunities for the HIV cure agenda.

  2. Recent topics related to testosterone deficiency syndrome in Japan%日本近期关于睾酮缺乏综合征的话题

    Institute of Scientific and Technical Information of China (English)

    Akira Tsujimura; Norio Nonomura

    2011-01-01

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

  3. Correlation between knowledge of HIV, attitudes and perceptions of HIV and a willingness to test for HIV at a regional hospital in KwaZulu-Natal, South Africa

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    Emeka E. Orisakwe

    2012-02-01

    Full Text Available Background: With millions of South Africans infected with human immunodeficiency virus (HIV and less than 10% of the population aware of their HIV status, HIV counselling and testing (HCT is the first step in any attempt to reduce the number of new infections. For those who test negative, HCT personalises the risks and reinforces preventative messages whilst for those who are positive, it is the gateway to accessing counselling and care. The Health Belief Model postulates that knowledge and attitude influence behaviour. The aim of this study was to determine whether knowledge of HIV and the attitude of patients referred for HCT correlated with a willingness to test for HIV.Methods: One hundred and seventy two patients referred for HCT were randomly selected over a three month period. Data were collected by a research assistant using the modified standardised World Health Organization (WHO–Global AIDS Project (GAP questionnaire.Results: Ninety per cent of the participants demonstrated sound knowledge of HIV, acquired immune deficiency syndrome (AIDS and HCT. Despite the 90% of the participants with sound knowledge only 71.5% of the participants tested for HIV. There was no statistically significant difference in knowledge between those who tested and those who did not test for HIV. Twenty five per cent of those who refused to test stated that they had already made up their mind not to test for HIV before the counselling session.Conclusions: Despite excellent knowledge of HIV, a significant number of patients referred for HCT do not test for HIV.

  4. Correlation between knowledge of HIV, attitudes and perceptions of HIV and a willingness to test for HIV at a regional hospital in KwaZulu-Natal, South Africa

    Directory of Open Access Journals (Sweden)

    Emeka E. Orisakwe

    2012-07-01

    Full Text Available Background: With millions of South Africans infected with human immunodeficiency virus (HIV and less than 10% of the population aware of their HIV status, HIV counselling and testing (HCT is the first step in any attempt to reduce the number of new infections. For thosewho test negative, HCT personalises the risks and reinforces preventative messages whilst for those who are positive, it is the gateway to accessing counselling and care. The Health BeliefModel postulates that knowledge and attitude influence behaviour. The aim of this study was to determine whether knowledge of HIV and the attitude of patients referred for HCT correlated with a willingness to test for HIV. Methods: One hundred and seventy two patients referred for HCT were randomly selectedover a three month period. Data were collected by a research assistant using the modified standardised World Health Organization (WHO–Global AIDS Project (GAP questionnaire.Results: Ninety per cent of the participants demonstrated sound knowledge of HIV, acquired immune deficiency syndrome (AIDS and HCT. Despite the 90% of the participants with sound knowledge only 71.5% of the participants tested for HIV. There was no statistically significant difference in knowledge between those who tested and those who did not test for HIV. Twenty five per cent of those who refused to test stated that they had already made up their mind not to test for HIV before the counselling session.Conclusions: Despite excellent knowledge of HIV, a significant number of patients referred for HCT do not test for HIV.

  5. Atypical Manifestation of LPS-Responsive beige- like anchor (LRBA Deficiency Syndrome as an Autoimmune Endocrine Disorder without Enteropathy and Immunodeficiency.

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    Shahrzad Bakhtiar

    2016-09-01

    Full Text Available Monogenic primary immunodeficiency syndromes can affect one or more endocrine organs by autoimmunity during childhood. Clinical manifestations include type1 diabetes mellitus, hypothyroidism, adrenal insufficiency and vitiligo. LPS-responsive beige-like anchor protein (LRBA deficiency was described in 2012 as a novel primary immunodeficiency, predominantly causing immune dysregulation and early onset enteropathy. We describe the heterogeneous clinical course of LRBA deficiency in two siblings, mimicking an autoimmune polyendocrine disorder in one of them in presence of the same underlying genetic mutation. The third child of consanguineous Egyptian parents (Patient 1 presented at six months of age with intractable enteropathy and failure to thrive. Later on he developed symptoms of adrenal insufficiency, autoimmune haemolytic anaemia, thrombocytopenia, and infectious complications due to immunosuppressive treatment. The severe enteropathy was non-responsive to the standard treatment and led to death at the age of 22 years. His younger sister (Patient 2 presented at the age of 12 to the endocrinology department with decompensated hypothyroidism, perioral vitiligo, delayed pubertal development, and growth failure without enteropathy and immunodeficiency.Using whole-exome sequencing (WES we identified a homozygous frameshift mutation (c.6862delT, p.Y2288MfsX29 in the LRBA gene in both siblings. To our knowledge our patient (patient 2 is the first case of LRBA deficiency described with predominant endocrine phenotype without immunodeficiency and enteropathy. LRBA deficiency should be considered as underlying disease in pediatric patients presenting with autoimmune endocrine symptoms. The same genetic mutation can manifest with a broad phenotypic spectrum without genotype-phenotype correlation. The awareness for disease symptoms among non-immunologists might be a key to early diagnosis. Further functional studies in LRBA deficiency are necessary to

  6. Are physiotherapy graduates adequately prepared to to manage hiv/aids patients

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    T. Puckree

    2004-02-01

    Full Text Available Physiotherapy learners treat patients with Human Immuno-deficiency Virus/Acquired Immunodeficiency Syndrome (HIV/AIDS. There is no available published research on physiotherapy learners' opinions about how the South Afican physiotherapy undergraduate program is  helping them cope with HIV/AIDS patients. This study determines whether the physiotherapy degree offered at South African Universities, adequately prepares learners to cope with HIV/AIDS patients. Differences in knowledge and attitudes of physiotherapy learners regarding HIV/AIDS, amongst  universities is also explored. Two hundred and two senior physiotherapy learners from eight South African universities returned their  questionnaires and 55% of these were viable for analysis. A large portion (79% of learners indicated that the physiotherapy undergraduate degree did not adequately prepare them to cope with HIV/AIDS patients. Learners' knowledge and attitudes regarding HIV/AIDS differed significantly (41% to 73%  amongst universities. Formal lectures on HIV/AIDS significantly affected knowledge (0% -100% but not attitude towards patients. The role of the physiotherapist, precautions, transmission modes, syndrome stages, counseling and clinical skills were considered critical in the management of HIV/AIDS patients.

  7. Herpes Viral Origin of the Parsonage-Turner Syndrome: Highlighting of Serological Immune Anti-Herpes Deficiency Cured by Anti-Herpes Therapy.

    Science.gov (United States)

    Goaster, Jacqueline Le; Bourée, Patrice; Ifergan, Charles; Tangy, Frederic; Olivier, René; Haenni, Anne-Lise

    2015-01-01

    In 2012, a 50 year-old athletic male presented with weakness, pain and unilateral phrenic paralysis, followed by bilateral phrenic paralysis with deep dyspnea. In 2013, the Parsonage-Turner syndrome was diagnosed. When the patient was seen in September 2014 for the first time, he was facing phrenic neuromuscular failure, which led to the hypothesis of neurotropic herpes viruses. A control of the global serological anti-Herpes immunity to analyze his antibody (Ab) levels confirmed herpes immune genetic deficiency. An appropriate herpes chemotherapy treatment was proposed. Immediately, a spectacular recovery of the patient was observed, and after a few weeks, the respiratory function tests showed normal values. The hypothesis of the inductive role of viruses of the herpes family in the Parsonage-Turner syndrome was thus substantiated. The patient's immune deficiency covers the HSV2, HHV3, HHV4, HHV5 and HHV6 Ab levels. This led to the control of herpes in the family lineage: indeed, his daughter presented alterations of her serological herpes Ab levels.

  8. Herpes Viral Origin of the Parsonage-Turner Syndrome: Highlighting of Serological Immune Anti-Herpes Deficiency Cured by Anti-Herpes Therapy

    Directory of Open Access Journals (Sweden)

    Jacqueline Le Goaster

    2015-05-01

    Full Text Available In 2012, a 50 year-old athletic male presented with weakness, pain and unilateral phrenic paralysis, followed by bilateral phrenic paralysis with deep dyspnea. In 2013, the Parsonage-Turner syndrome was diagnosed. When the patient was seen in September 2014 for the first time, he was facing phrenic neuromuscular failure, which led to the hypothesis of neurotropic herpes viruses. A control of the global serological anti-Herpes immunity to analyze his antibody (Ab levels confirmed herpes immune genetic deficiency. An appropriate herpes chemotherapy treatment was proposed. Immediately, a spectacular recovery of the patient was observed, and after a few weeks, the respiratory function tests showed normal values. The hypothesis of the inductive role of viruses of the herpes family in the Parsonage-Turner syndrome was thus substantiated. The patient's immune deficiency covers the HSV2, HHV3, HHV4, HHV5 and HHV6 Ab levels. This led to the control of herpes in the family lineage: indeed, his daughter presented alterations of her serological herpes Ab levels.

  9. 德昌县艾滋病流行特征分析%Analysis on Epidemic Characteristics of Acquired Immune Deficiency Syndrome in Dechang County

    Institute of Scientific and Technical Information of China (English)

    施朝瑜

    2011-01-01

    Objective To understand the epidemiological trend of acquired immune deficiency syndrome (AIDS) in Dechang County so as to provide a scientific base for prevention and control of AIDS. Methods Descriptive epidemiological analysis was conducted on the AIDS epidemic data in Dechang county. Results From 1995 when the first case of HIV infection was confirmed to August 2011, a total of 262 cases of HIV/AIDS were reported with a total infection rate of 18. 95/100 000. From 2008 to 2010, the reported infections showed rapid growth. The annual infection rate of male was 26. 57/100 000 and female 11. 05/100 000 with a significant difference (Χ2 =43. 94, P = 0. 002). The ratio of male to female infections was 2. 49 : 1. Most of the AIDS cases were young adults aged between 20 and 45 years and old people aged between 55 and 75 years old who occupied 93. 49% of the total infectious cases. The number of reported AIDS cases of farmer and unknown occupations accounted for 82. 4% and there was an obvious occupations peak. Most patients in the county were infected by heterosexual sexual contact and injecting drugs, which accounted for 64. 89% and 32. 82% of the total respectively. The AIDS cases of 29 infected couples and 3 mother-to-child transmission. Conclusions AIDS epidemic growth is rapid in Dechang county with the situation being quite grim. We should enhance the AIDS prevention propaganda in the publicity, to raise national awareness of AIDS prevention. The related departments should cooperate to regulate the illegal entertainment and strengthen the management of migrant workers. The counseling and testing network should be improved so as to raise the detection rate and control the spread of AIDS.%目的 掌握德昌县艾滋病流行趋势,为制订防控措施提供准确依据.方法 利用描述流行病学方法分析德昌县1995年以来艾滋病疫情资料.结果 自1995年德昌县报告首例艾滋病感染者至2011年8月共报告艾滋病感染者/患者262

  10. Influences of dietary biotin and avidin on growth, survival, deficiency syndrome and hepatic gene expression of juvenile Nile tilapia Oreochromis niloticus.

    Science.gov (United States)

    Sarker, Pallab Kumer; Yossa, Rodrigue; Karanth, Santhosh; Ekker, Marc; Vandenberg, Grant W

    2012-08-01

    This study was undertaken to assess the interactive effects of dietary biotin and avidin on growth, feed conversion, survival and deficiency syndrome of tilapia and to determine the influence of dietary biotin deficiency on the expression of key genes related to biotin metabolism in tilapia. Six iso-nitrogenous and iso-energetic diets based on a common purified basal diet (vitamin-free casein as the protein source) were prepared for this study. The six dietary groups were 0 g avidin with 0 mg biotin (A0B0), 0 g avidin with 0.06 mg biotin/kg diet (A0B1), four avidin-supplemented diets incorporating at a incremental concentrations 0.25, 0.5, 1.0 and 2.0 g/kg diet with 0.06 mg biotin/kg diet (A15B1, A30B1, A60B1 and A120B1). Fish were hand-fed three times a day to apparent satiation for 12 weeks. Each diet was fed to three replicate groups of fish. Fish were kept in glass aquaria in a recirculating aquaculture system under standardized environmental conditions. Growth was significantly higher in fish that received the biotin-supplemented diet (A0B1), compared to diets lacking biotin or supplemented with avidin. Tilapia fed higher concentration of avidin-supplemented diets (A60B1 and A120B1) showed significant growth depression and displayed severe deficiency syndromes such as lethargy, anorexia, circular swimming and convulsions, which ultimately lead to death. There was a strong proportional linear relationship between the avidin content of the diet and feed conversion ratio, FCR (y = 0.43x + 0.135; r = 0.960; P protein efficiency ratio, PER (y = -0.309x + 2.195; r = 0.961; P levels of biotinidase, pyruvate carboxylase, propionyl-CoA carboxylase-A and propionyl-CoA carboxylase-B transcripts were noted in fish fed all graded level of avidin-supplemented diets. A broken-line analysis indicated that feeding tilapia a diet with 44.5 times more avidin than the dietary biotin requirement can induce deficiency syndromes including retarded growth, when

  11. Behaviors Influencing Human Immunodeficiency Virus Transmission in the Context of Positive Prevention among People Living with HIV/Acquired Immunodeficiency Syndrome in Iran: A Qualitative Study

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    Seyed Ramin Radfar

    2014-01-01

    Full Text Available Background: Identifying factors, which influence health behaviors is critical to designing appropriate and effective preventive programs. Human immunodeficiency virus (HIV transmission is highly related to people behaviors and understanding factors influencing healthy behaviors among Iranian people living with HIVs (PLHIVs/acquired immunodeficiency syndrome (AIDS is very important to tailor an effective response to HIV/AIDS epidemic. Methods: This study was conducted as a qualitative study by methods of focus group discussion and in-depth interview in six provinces of Iran with 64 PLHIVs to determine factors influence engagement in positive prevention. Results: Knowledge and education, feelings of responsibility and positive prevention practices were identified as the primary domains of engagement. These domains were found to be influenced by feelings of ostracism and frustration, poverty, barriers to disclosure of HIV status, access to and utilization of drug abuse treatment services and antiretroviral therapy, adherence to treatment, age, religiousness, sex work, singleness, and incarceration. Conclusions: Designing new interventions and updating current interventions directed toward the aforementioned factors should be addressed by responsible Iranian authorities in order to have a national effective response on the HIV/AIDS epidemic.

  12. Presentation and outcome amongst older Singaporeans living with human immunodeficiency virus/acquired immunodeficiency syndrome (HIV/AIDS): does age alone drive excess mortality?

    Science.gov (United States)

    Huggan, Paul J; Foo, Rui Min; Olszyna, Dariusz; Chew, Nicholas S; Smitasen, Nares; Mukhopadhyay, Amartya; Archuleta, Sophia

    2012-12-01

    There is little detailed information on human immunodeficiency virus (HIV) amongst older adults in Singapore. A retrospective study of 121 consecutive referrals of patients presenting for HIV care was conducted. Demographic, clinical and laboratory variables were collected. A prognostic model derived from the North American Veterans' Affairs Cohort Study (VACS) was used to estimate prognosis. The median age at presentation was 43 (range, 18 to 76). Thirty-eight patients (31%) were aged 50 or older and 106 patients (88%) were male. Older patients were more likely to be of Chinese ethnicity (P = 0.035), married (P = 0.0001), unemployed or retired (P = 0.0001), and to have acquired their infection heterosexually (P = 0.0002). The majority of patients in both groups were symptomatic at presentation. Eighty-one (67%) had CD4 counts less than 200 at baseline with no observable differences in HIV ribonucleic acid (RNA) or clinical stage based on age. Non-Acquired Immunodeficiency Syndrome (AIDS) morbidity was observed more frequently amongst older patients. The estimated prognosis of patients differed significantly based on age. Using the VACS Index and comparing younger patients with those aged 50 and above, mean 5 year mortality estimates were 25% and 50% respectively (P HIV/AIDS cases and present with more non-AIDS morbidity. This confers a poor prognosis despite comparable findings with younger patients in terms of clinical stage, AIDS-defining illness, CD4 count and HIV viral load.

  13. Insulin resistance in Saudi postmenopausal women with and without metabolic syndrome and its association with vitamin D deficiency

    Directory of Open Access Journals (Sweden)

    Eman M. Alissa, PhD

    2015-03-01

    Conclusions: These observations suggest that hypovitaminosis D may be associated with the risk of developing metabolic syndrome. Interrelationships between IR, metabolic syndrome, and hypovitaminosis D are of particular interest in Saudi population, given the high prevalence of these conditions in this region.

  14. Research on conceptual framework of PRO scale in spleen Qi deficiency syndrome%脾气虚证PRO量表概念框架的探讨

    Institute of Scientific and Technical Information of China (English)

    林建东; 胡镜清; 刘保延

    2013-01-01

    [Objective] To develop a conceptual framework of patient-reported outcomes (PRO) scale in spleen Qi deficiency syndrome for the further development of scale items, the establishment of the item pool and lay a theoretical foundation. [Methods] The work was performed under the guidance of traditional Chinese medicine (TCM) theory and the direction of psychometrics. The formation of the conceptual framework of PRO scale in spleen Qi deficiency syndrome is set up according to the clinical features of spleen Qi deficiency syndrome, the production principles and processes of PRO scale in United States Food and Drug Administration (FDA) and combined with the WHO concept of health, TCM holistic concept and physiological functions of the spleen. [Results] The scale is composed of four domains: physiology domain, psychology domain, independence domain and social domain. The physiology domain is composed of three facets, which are symptoms of spleen deficiency, symptoms of Qi deficiency and symptoms of the five viscera. The psychology domain is composed of negative feelings and positive feelings. The independence domain is composed of three faces of the activities of daily living and work learning ability. The social domain is composed of social support and social relations. [Conclusion] The four domains and nine fields that formed by preliminary study of defmeing and explaining the conception of Spleen Qi Deficiency Syndrome generalize about the connotation and extension of it allsidely.%[目的]构建脾气虚证患者报告结局(PRO)量表的概念框架为进一步发展量表条目、建立条目池和量表的研制奠定理论基础.[方法]在中医传统理论的指导下,参照美国食品药品监督管理局(FDA)所规定的PRO量表的制作原则及流程,根据脾气虚证的临床特点,结合世界卫生组织(WHO)的健康概念、中医整体观念及脾脏的生理功能构建量表的概念框架.[结果]量表分为生理、心理、独立性和社会4

  15. Lower extremity compartment syndrome in the setting of iliofemoral deep vein thrombosis, phlegmasia cerulea dolens and factor VII deficiency.

    Science.gov (United States)

    Abdul, Wahid; Hickey, Ben; Wilson, Chris

    2016-04-25

    Acute compartment syndrome requires urgent fasciotomies to prevent irreversible muscle damage. We present a case of massive iliofemoral deep vein thrombosis (DVT) presenting as acute compartment syndrome. A healthy 21-year-old man presented with a 2-day history of worsening left leg pain with swelling and bluish discolouration. Clinical diagnosis of compartment syndrome secondary to phlegmasia cerulea dolens (PCD) was made and he underwent emergency fasciotomies. Postoperative venous duplex confirmed a massive iliofemoral DVT and intravenous heparin was started. Following skin grafting, the patient made a good recovery. Massive iliofemoral DVT is an uncommon cause of compartment syndrome and has been reported in lower limbs, secondary to PCD. Failure to treat early carries a high degree of morbidity, with amputation rates up to 50% and mortality rates between 25% and 40%. It is important to recognise compartment syndrome as an acute presentation of PCD. Urgent fasciotomies can prevent limb amputation and mortality. 2016 BMJ Publishing Group Ltd.

  16. Eradication of hepatitis C virus and non-liver-related non-acquired immune deficiency syndrome-related events in human immunodeficiency virus/hepatitis C virus coinfection.

    Science.gov (United States)

    Berenguer, Juan; Rodríguez-Castellano, Elena; Carrero, Ana; Von Wichmann, Miguel A; Montero, Marta; Galindo, María J; Mallolas, Josep; Crespo, Manuel; Téllez, María J; Quereda, Carmen; Sanz, José; Barros, Carlos; Tural, Cristina; Santos, Ignacio; Pulido, Federico; Guardiola, Josep M; Rubio, Rafael; Ortega, Enrique; Montes, María L; Jusdado, Juan J; Gaspar, Gabriel; Esteban, Herminia; Bellón, José M; González-García, Juan

    2017-08-01

    We assessed non-liver-related non-acquired immunodeficiency syndrome (AIDS)-related (NLR-NAR) events and mortality in a cohort of human immunodeficiency virus (HIV)/hepatitis C virus (HCV)-coinfected patients treated with interferon (IFN) and ribavirin (RBV), between 2000 and 2008. The censoring date was May 31, 2014. Cox regression analysis was performed to assess the adjusted hazard rate (HR) of overall death in responders and nonresponders. Fine and Gray regression analysis was conducted to determine the adjusted subhazard rate (sHR) of NLR deaths and NLR-NAR events considering death as the competing risk. The NLR-NAR events analyzed included diabetes mellitus, chronic renal failure, cardiovascular events, NLR-NAR cancer, bone events, and non-AIDS-related infections. The variables for adjustment were age, sex, past AIDS, HIV transmission category, nadir CD4(+) T-cell count, antiretroviral therapy, HIV RNA, liver fibrosis, HCV genotype, and exposure to specific anti-HIV drugs. Of the 1,625 patients included, 592 (36%) had a sustained viral response (SVR). After a median 5-year follow-up, SVR was found to be associated with a significant decrease in the hazard of diabetes mellitus (sHR, 0.57; 95% confidence interval [CI], 0.35-0.93; P = 0.024) and decline in the hazard of chronic renal failure close to the threshold of significance (sHR, 0.43; 95% CI, 0.17-1.09; P = 0.075). Our data suggest that eradication of HCV in coinfected patients is associated not only with a reduction in the frequency of death, HIV progression, and liver-related events, but also with a reduced hazard of diabetes mellitus and possibly of chronic renal failure. These findings argue for the prescription of HCV therapy in coinfected patients regardless of fibrosis stage. (Hepatology 2017;66:344-356). © 2017 The Authors. Hepatology published by Wiley Periodicals, Inc., on behalf of the American Association for the Study of Liver Diseases.

  17. Metabolic syndrome in French HIV-infected patients: prevalence and predictive factors after 3 years of antiretroviral therapy.

    Science.gov (United States)

    Biron, Antoine; Bobin-Dubigeon, Christine; Volteau, Christelle; Piroth, Lionel; Perré, Philippe; Leport, Catherine; Prazuck, Thierry; Jovelin, Thomas; Billard, Martine; Sébille, Veronique; Bard, Jean-Marie; Raffi, François; Biron, Charlotte

    2012-12-01

    Treatment of HIV infection with highly active antiretroviral therapy can induce metabolic complications and increase the risk of developing the metabolic syndrome (MS). The purpose of this study was to report the prevalence and the risk factors for MS in HIV-infected patients who started highly active antiretroviral therapy (HAART) after 2000. SYMET is a prospective, multicentric, cohort study evaluating the prevalence of MS in 269 patients who had received continuous HAART for 1 to 4 years up to September 2007. MS was defined according to the American Heart Association (AHA) and the National Heart, Lung, and Blood Institute (NHLBI) 2005 criteria. Cross-sectional assessment included clinical examination and fasting evaluation of metabolic, inflammatory, and oxidative parameters. Data were analyzed with Chi-square, Student, or Wilcoxon tests. Univariate and multivariate logistic regressions were performed to identify predictive factors for MS. The prevalence of MS was 18.2% after a median duration of HAART of 29.8 months. In multivariate analysis, predictive factors of MS were high non-HDL-cholesterol (OR=1.87; phepatitis C virus (HCV) (OR=5.67; p=0.02), as well as age (OR=1.04; p=0.02) and duration of exposure to protease inhibitors (PI) (OR=1.03; p=0.02) or to abacavir (ABC) (OR=1.03; p=0.02). In this cohort of patients exposed to less than 4 years of HAART, MS prevalence was 18.2%. Older age, high hsCRP, HCV coinfection, and elevated non-HDL-cholesterol were risk factors for the MS. There was also a moderate significant association of increased risk of MS with cumulative PI and ABC exposure.

  18. [Iron deficiency and digestive disorders].

    Science.gov (United States)

    Cozon, G J N

    2014-11-01

    Iron deficiency anemia still remains problematic worldwide. Iron deficiency without anemia is often undiagnosed. We reviewed, in this study, symptoms and syndromes associated with iron deficiency with or without anemia: fatigue, cognitive functions, restless legs syndrome, hair loss, and chronic heart failure. Iron is absorbed through the digestive tract. Hepcidin and ferroportin are the main proteins of iron regulation. Pathogenic micro-organisms or intestinal dysbiosis are suspected to influence iron absorption. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  19. Hair and skin sterols in normal mice and those with deficient dehydrosterol reductase (DHCR7), the enzyme associated with Smith-Lemli-Opitz syndrome

    Science.gov (United States)

    Serra, Montserrat; Matabosch, Xavier; Ying, Lee; Watson, Gordon; Shackleton, Cedric

    2010-01-01

    Our recent studies have focused on cholesterol synthesis in mouse models for 7-dehydrosterolreductase (DHCR7) deficiency, also known as Smith-Lemli-Opitz syndrome. Investigations of such mutants have relied on tissue and blood levels of the cholesterol precursor 7-dehydrocholesterol (7DHC) and its 8-dehydro isomer. In this investigation by gas chromatography/mass spectrometry (GC/MS) we have identified and quantified cholesterol and its precursors (7DHC, desmosterol, lathosterol, lanosterol and cholest-7,24-dien-3β-ol) in mouse hair. The components were characterized and their concentrations were compared to those found in mouse skin and serum. Hair appeared unique in that desmosterol was a major sterol component, almost matching in concentration cholesterol itself. In DHCR7 deficient mice, dehydrodesmosterol (DHD) was the dominant hair Δ7 sterol. Mutant mouse hair had much higher concentrations of 7-dehydrosterols relative to cholesterol than did serum or tissue at all ages studied. The 7DHC/C ratio in hair was typically about sevenfold the value in serum or skin and the DHD/D ratio was 100X that of the serum 7DHC/C ratio. Mutant mice compensate for their DHCR7 deficiency with maturity, and the tissue and blood 7DHC/C become close to normal. That hair retains high relative concentrations of the dehydro precursors suggests that the apparent up-regulation of Dhcr7 seen in liver is slower to develop at the site of hair cholesterol synthesis. PMID:20804844

  20. Histopathological comparison of Kearns-Sayre syndrome and PGC-1α-deficient mice suggests a novel concept for vacuole formation in mitochondrial encephalopathy.

    Science.gov (United States)

    Szalardy, L; Molnar, M; Torok, R; Zadori, D; Vecsei, L; Klivenyi, P; Liberski, P; Kovacs, G G

    2016-01-01

    Despite the current hypotheses about myelinic and astrocytic ion-dyshomeostasis underlying white (WM) and grey matter (GM) vacuolation in mitochondrial encephalopathies, there is a paucity of data on the exact mechanism of vacuole formation. To revisit the concepts of vacuole formation associated with mitochondrial dysfunction, we performed a comparative neuropathological analysis in Kearns-Sayre syndrome (KSS) and full-length peroxisome proliferator-activated receptor-g coactivator-1a (FL-PGC-1a)-deficient mice, a recently proposed morphological model of mitochondrial encephalopathies. Brain tissues from an individual with genetically proven KSS (22-year-old man) and aged FL-PGC-1a-deficient and wild-type (male, 70-75-week-old) mice were analysed using ultrastructural and immunohistochemical methods, with a specific focus on myelin-related, oligodendroglial, axonal and astrocytic pathologies. Besides demonstrating remarkable similarities in the lesion profile of KSS and FL-PGC-1a-deficient mice, this study first provides morphological evidence for the identical origin of WM and GM vacuolation as well as for the presence of intracytoplasmic oligodendroglial vacuoles in mitochondriopathies. Based on these observations, the paper proposes a theoretical model for the development of focal myelin vacuolation as opposed to the original concepts of intramyelin oedema. Placing oligodendrocytes in the centre of tissue lesioning in conditions related to defects in mitochondria, our observations support the rationale for cytoprotective targeting of oligodendrocytes in mitochondrial encephalopathies, and may also have implications in brain aging and multiple sclerosis, as discussed.