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

Myoadenylate deaminase deficiency, hypertrophic cardiomyopathy and gigantism syndrome.

Science.gov (United States)

Skyllouriotis, M L; Marx, M; Bittner, R E; Skyllouriotis, P; Gross, M; Wimmer, M

1997-07-01

We report a 20-year-old man with gigantism syndrome, hypertrophic cardiomyopathy, muscle weakness, exercise intolerance, and severe psychomotor retardation since childhood. Histochemical and biochemical analysis of skeletal muscle biopsy revealed myoadenylate deaminase deficiency; molecular genetic analysis confirmed the diagnosis of primary (inherited) myoadenylate deaminase deficiency. Plasma, urine, and muscle carnitine concentrations were reduced. L-Carnitine treatment led to gradual improvement in exercise tolerance and cognitive performance; plasma and tissue carnitine levels returned to normal, and echocardiographic evidence of left ventricular hypertrophy disappeared. The combination of inherited myoadenylate deaminase deficiency, gigantism syndrome and carnitine deficiency has not previously been described.

Bartter syndrome and growth hormone deficiency: three cases.

Science.gov (United States)

Buyukcelik, Mithat; Keskin, Mehmet; Kilic, Beltinge Demircioglu; Kor, Yilmaz; Balat, Ayse

2012-11-01

Bartter syndrome is a rare autosomal recessive disorder characterized by hypokalemia, salt loss, and metabolic alkalosis. Short stature is one of the clinical manifestations in these children. Although polyuria, polydipsia, hypokalemia, and salt loss may be responsible for growth retardation, the exact pathogenesis of short stature in Bartter syndrome is not known. In this study, we present three children diagnosed as having Bartter syndrome with short stature and growth hormone (GH) deficiency. After recombinant human growth hormone therapy (rhGH), their growth velocities were improved. These results indicate that GH deficiency may contribute to short stature in children with Bartter syndrome, and rhGH therapy would be an excellent adjunctive treatment for short children with this syndrome whose condition is resistant to conventional therapies in terms of growth.

[Constitutional mismatch repair deficiency syndrome].

Science.gov (United States)

Jongmans, Marjolijn C; Gidding, Corrie E; Loeffen, Jan; Wesseling, Pieter; Mensenkamp, Arjen; Hoogerbrugge, Nicoline

2015-01-01

Constitutional mismatch repair deficiency (CMMR-D) syndrome is characterised by a significantly increased risk for developing cancer in childhood. It arises when both parents have a mutation in the same mismatch repair gene and pass it on to their child. An 8-year-old girl was diagnosed with CMMR-D syndrome after she developed a brain tumour at the age of 4 and a T-cell non-Hodgkin lymphoma at the age of 6. She had multiple hyperpigmented skin lesions and died of myelodysplastic syndrome at the age of 11. In children with cancer CMMR-D syndrome can be recognized particularly if there are multiple primary malignancies and skin hyperpigmentations and hypopigmentations. The parents of these children are at high risk for colorectal and endometrial cancer (Lynch syndrome), amongst others.

Hyperparathyroidism and complications associated with vitamin D deficiency in HIV-infected adults in New York City, New York.

Science.gov (United States)

Kwan, Candice K; Eckhardt, Benjamin; Baghdadi, Jonathan; Aberg, Judith A

2012-09-01

Although recent studies report a high prevalence of vitamin D deficiency in HIV-infected adults similar to that in the general population, metabolic complications of vitamin D deficiency may be worsened with HIV infection and remain insufficiently characterized. We conducted a retrospective cross-sectional cohort study to determine prevalence and correlates of vitamin D deficiency and hyperparathyroidism among HIV-infected patients attending an urban clinic. Vitamin D deficiency was defined as 25(OH)-vitamin D hyperparathyroidism as parathyroid-hormone >65 pg/ml. We used the X(2) test to compare proportions and logistic regression to assess for associations. Among 463 HIV-infected patients, the prevalence of vitamin D deficiency was 59%. The prevalence of hyperparathyroidism was 30% among patients with vitamin D deficiency, 23% among those with insufficiency, and 12% among those with sufficient vitamin D levels. Vitamin D deficiency was associated with increased odds of hyperparathyroidism. Severe vitamin D deficiency was associated with elevated alkaline phosphatase, a marker for increased bone turnover. Although efavirenz use was associated with vitamin D deficiency, and protease inhibitor use with decreased odds of vitamin D deficiency, there was no statistical difference in rates of hyperparathyroidism stratified by combination antiretroviral therapy (cART) use. Given the increased risk of osteopenia with HIV infection and cART use, vitamin D supplementation for all HIV-infected patients on cART should be prescribed in accordance with the 2011 Endocrine Society guidelines. In HIV-infected patients with severe vitamin D deficiency or hyperparathyroidism, screening for osteomalacia and osteopenia may be warranted.

HIV and the eye | Visser | Continuing Medical Education

African Journals Online (AJOL)

In an area of high HIV prevalence, HIV-related ocular lesions are relatively common. It is estimated that there are 5.6 million people in South Africa living with the human immunodeficiency virus (HIV) infection and acquired immune deficiency syndrome (AIDS). A relatively small percentage of them are on highly active ...

Mismatch repair deficiency commonly precedes adenoma formation in Lynch Syndrome-Associated colorectal tumorigenesis.

Science.gov (United States)

Sekine, Shigeki; Mori, Taisuke; Ogawa, Reiko; Tanaka, Masahiro; Yoshida, Hiroshi; Taniguchi, Hirokazu; Nakajima, Takeshi; Sugano, Kokichi; Yoshida, Teruhiko; Kato, Mamoru; Furukawa, Eisaku; Ochiai, Atsushi; Hiraoka, Nobuyoshi

2017-08-01

Lynch syndrome is a cancer predisposition syndrome caused by germline mutations in mismatch repair (MMR) genes. MMR deficiency is a ubiquitous feature of Lynch syndrome-associated colorectal adenocarcinomas; however, it remains unclear when the MMR-deficient phenotype is acquired during tumorigenesis. To probe this issue, the present study examined genetic alterations and MMR statuses in Lynch syndrome-associated colorectal adenomas and adenocarcinomas, in comparison with sporadic adenomas. Among the Lynch syndrome-associated colorectal tumors, 68 of 86 adenomas (79%) and all adenocarcinomas were MMR-deficient, whereas all the sporadic adenomas were MMR-proficient, as determined by microsatellite instability testing and immunohistochemistry for MMR proteins. Sequencing analyses identified APC or CTNNB1 mutations in the majority of sporadic adenomas (58/84, 69%) and MMR-proficient Lynch syndrome-associated adenomas (13/18, 72%). However, MMR-deficient Lynch syndrome-associated adenomas had less APC or CTNNB1 mutations (25/68, 37%) and frequent frameshift RNF43 mutations involving mononucleotide repeats (45/68, 66%). Furthermore, frameshift mutations affecting repeat sequences constituted 14 of 26 APC mutations (54%) in MMR-deficient adenomas whereas these frameshift mutations were rare in MMR-proficient adenomas in patients with Lynch syndrome (1/12, 8%) and in sporadic adenomas (3/52, 6%). Lynch syndrome-associated adenocarcinomas exhibited mutation profiles similar to those of MMR-deficient adenomas. Considering that WNT pathway activation sufficiently drives colorectal adenoma formation, the distinct mutation profiles of WNT pathway genes in Lynch syndrome-associated adenomas suggest that MMR deficiency commonly precedes adenoma formation.

LEDGF/p75 Deficiency Increases Deletions at the HIV-1 cDNA Ends.

Science.gov (United States)

Bueno, Murilo T D; Reyes, Daniel; Llano, Manuel

2017-09-15

Processing of unintegrated linear HIV-1 cDNA by the host DNA repair system results in its degradation and/or circularization. As a consequence, deficient viral cDNA integration generally leads to an increase in the levels of HIV-1 cDNA circles containing one or two long terminal repeats (LTRs). Intriguingly, impaired HIV-1 integration in LEDGF/p75-deficient cells does not result in a correspondent increase in viral cDNA circles. We postulate that increased degradation of unintegrated linear viral cDNA in cells lacking the lens epithelium-derived growth factor (LEDGF/p75) account for this inconsistency. To evaluate this hypothesis, we characterized the nucleotide sequence spanning 2-LTR junctions isolated from LEDGF/p75-deficient and control cells. LEDGF/p75 deficiency resulted in a significant increase in the frequency of 2-LTRs harboring large deletions. Of note, these deletions were dependent on the 3' processing activity of integrase and were not originated by aberrant reverse transcription. Our findings suggest a novel role of LEDGF/p75 in protecting the unintegrated 3' processed linear HIV-1 cDNA from exonucleolytic degradation.

Drugs + HIV, Learn the Link

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Full Text Available ... Military Opioid Overdose Reversal with Naloxone (Narcan, ... HIV (human immunodeficiency virus) is the virus that causes AIDS (acquired immune deficiency syndrome). AIDS is a disease of the immune system ...

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

Science.gov (United States)

Alonzo, Angelo A.; Reynolds, Nancy R.

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

Genital infections and syndromic diagnosis among HIV-infected women in HIV care programmes in Kenya.

Science.gov (United States)

Djomand, Gaston; Gao, Hongjiang; Singa, Benson; Hornston, Sureyya; Bennett, Eddas; Odek, James; McClelland, R Scott; John-Stewart, Grace; Bock, Naomi

2016-01-01

Control of genital infections remains challenging in most regions. Despite advocacy by the World Health Organization for syndromic case management, there are limited data on the syndromic approach, especially in HIV care settings. This study compared the syndromic approach with laboratory diagnosis among women in HIV care in Kenya. A mobile team visited 39 large HIV care programmes in Kenya and enrolled participants using population-proportionate sampling. Participants provided behavioural and clinical data with genital and blood specimens for lab testing. Among 1063 women, 68.4% had been on antiretroviral therapy >1 year; 58.9% were using cotrimoxazole prophylaxis; 51 % had CD4+T-lymphocytes Kenya have high rates of vaginal infections. Syndromic diagnosis was a poor predictor of those infections. © The Author(s) 2015.

DNA mismatch repair protein deficient non-neoplastic colonic crypts: a novel indicator of Lynch syndrome.

Science.gov (United States)

Pai, Rish K; Dudley, Beth; Karloski, Eve; Brand, Randall E; O'Callaghan, Neil; Rosty, Christophe; Buchanan, Daniel D; Jenkins, Mark A; Thibodeau, Stephen N; French, Amy J; Lindor, Noralane M; Pai, Reetesh K

2018-06-08

Lynch syndrome is the most common form of hereditary colorectal carcinoma. However, establishing the diagnosis of Lynch syndrome is challenging, and ancillary studies that distinguish between sporadic DNA mismatch repair (MMR) protein deficiency and Lynch syndrome are needed, particularly when germline mutation studies are inconclusive. The aim of this study was to determine if MMR protein-deficient non-neoplastic intestinal crypts can help distinguish between patients with and without Lynch syndrome. We evaluated the expression of MMR proteins in non-neoplastic intestinal mucosa obtained from colorectal surgical resection specimens from patients with Lynch syndrome-associated colorectal carcinoma (n = 52) and patients with colorectal carcinoma without evidence of Lynch syndrome (n = 70), including sporadic MMR protein-deficient colorectal carcinoma (n = 30), MMR protein proficient colorectal carcinoma (n = 30), and "Lynch-like" syndrome (n = 10). MMR protein-deficient non-neoplastic colonic crypts were identified in 19 of 122 (16%) patients. MMR protein-deficient colonic crypts were identified in 18 of 52 (35%) patients with Lynch syndrome compared to only 1 of 70 (1%) patients without Lynch syndrome (p Lynch-like" syndrome and harbored two MSH2-deficient non-neoplastic colonic crypts. MMR protein-deficient non-neoplastic colonic crypts were not identified in patients with sporadic MMR protein-deficient or MMR protein proficient colorectal carcinoma. Our findings suggest that MMR protein-deficient colonic crypts are a novel indicator of Lynch syndrome, and evaluation for MMR protein-deficient crypts may be a helpful addition to Lynch syndrome diagnostics.

Nutrition and HIV

DEFF Research Database (Denmark)

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

2017-01-01

, 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...

[Constitutional mismatch repair deficiency syndrome

NARCIS (Netherlands)

Jongmans, M.C.J.; Gidding, C.E.M.; Loeffen, J.; Wesseling, P.; Mensenkamp, A.; Hoogerbrugge, N.

2015-01-01

BACKGROUND: Constitutional mismatch repair deficiency (CMMR-D) syndrome is characterised by a significantly increased risk for developing cancer in childhood. It arises when both parents have a mutation in the same mismatch repair gene and pass it on to their child. CASE DESCRIPTION: An 8-year-old

Acute thiamine deficiency and refeeding syndrome: Similar findings but different pathogenesis.

Science.gov (United States)

Maiorana, Arianna; Vergine, Gianluca; Coletti, Valentina; Luciani, Matteo; Rizzo, Cristiano; Emma, Francesco; Dionisi-Vici, Carlo

2014-01-01

Refeeding syndrome can occur in several contexts of relative malnutrition in which an overaggressive nutritional support is started. The consequences are life threatening with multiorgan impairment, and severe electrolyte imbalances. During refeeding, glucose-involved insulin secretion causes abrupt reverse of lipolysis and a switch from catabolism to anabolism. This creates a sudden cellular demand for electrolytes (phosphate, potassium, and magnesium) necessary for synthesis of adenosine triphosphate, glucose transport, and other synthesis reactions, resulting in decreased serum levels. Laboratory findings and multiorgan impairment similar to refeeding syndrome also are observed in acute thiamine deficiency. The aim of this study was to determine whether thiamine deficiency was responsible for the electrolyte imbalance caused by tubular electrolyte losses. We describe two patients with leukemia who developed acute thiamine deficiency with an electrolyte pattern suggestive of refeeding syndrome, severe lactic acidosis, and evidence of proximal renal tubular dysfunction. A single thiamine administration led to rapid resolution of the tubular dysfunction and normalization of acidosis and electrolyte imbalance. This demonstrated that thiamine deficiency was responsible for the electrolyte imbalance, caused by tubular electrolyte losses. Our study indicates that, despite sharing many laboratory similarities, refeeding syndrome and acute thiamine deficiency should be viewed as separate entities in which the electrolyte abnormalities reported in cases of refeeding syndrome with thiamine deficiency and refractory lactic acidosis may be due to renal tubular losses instead of a shifting from extracellular to intracellular compartments. In oncologic and malnourished patients, individuals at particular risk for developing refeeding syndrome, in the presence of these biochemical abnormalities, acute thiamine deficiency should be suspected and treated because it promptly

Severe Vitamin D Deficiency in HIV-infected Pregnant Women is Associated with Preterm Birth

Science.gov (United States)

Jao, Jennifer; Freimanis, Laura; Mussi-Pinhata, Marisa M.; Cohen, Rachel A.; Monteiro, Jacqueline Pontes; Cruz, Maria Leticia; Branch, Andrea; Sperling, Rhoda S.; Siberry, George K.

2017-01-01

Background Low maternal vitamin D has been associated with preterm birth (PTB). HIV-infected pregnant women are at risk for PTB, but data on maternal vitamin D and PTB in this population is scarce. Methods In a cohort of Latin American HIV-infected pregnant women from the NICHD International Site Development Initiative (NISDI) protocol, we examined the association between maternal vitamin D status and PTB. Vitamin D status was defined as the following 25-hydroxyvitamin D levels: severe deficiency (PTBs =36 wks (interquartile range: 34-36)]. In multivariate analysis, severe vitamin D deficiency was associated with PTB [Odds Ratio=4.7, 95% Confidence Interval: 1.3-16.8)]. Conclusion Severe maternal vitamin D deficiency is associated with PTB in HIV-infected Latin American pregnant women. Further studies are warranted to determine if vitamin D supplementation in HIV-infected women may impact PTB. PMID:27716863

Baraitser and Winter syndrome with growth hormone deficiency.

Science.gov (United States)

Chentli, Farida; Zellagui, Hadjer

2014-01-01

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

Tuberculosis and the acquired immune deficiency syndrome in South Brazil

International Nuclear Information System (INIS)

Vieira, M.V.; Genro, C.H.; Santos Silveira, R. de C. dos

1989-01-01

Tuberculosis and the acquired immune deficiency syndrome in South Brazil. The authors studied the incidence of tuberculosis in South Brazilian patients with acquired immune deficiency syndrome from January 1985 to June 1988. During this period, tuberculosis occurred in 10.3% of acquired immune deficiency syndrome patients. The socioeconomic conditions and the incidence of disease in the population were not confirmed as a potential risk for tuberculosis infection. Chest radiographs revealed pulmonary infiltrates in six patients, hilar and/or mediastinal adenopathy in three, and pleural effusion in two. The two remaining patients had pulmonary consolidation associated with other features. None of these patients presented pulmonary cavitation or radiographic findings of typical reactivation of pulmonary tuberculosis. (author) [pt

Prevalence of Vitamin B12 and folic acid deficiency in HIV-positive patients and its association with neuropsychiatric symptoms and immunological response.

Science.gov (United States)

Adhikari, Prabha M R; Chowta, Mukta N; Ramapuram, John T; Rao, Satish; Udupa, Karthik; Acharya, Sahana Devdas

2016-01-01

Deficiency of micronutrients is prevalent even before the development of symptoms of HIV disease and is associated with accelerated HIV disease progression. This study evaluates the prevalence of folate and Vitamin B 12 deficiency in HIV-positive patients with or without tuberculosis (TB) and its association with neuropsychiatric symptoms and immunological response. Cross-sectional, observational study in an outpatient setting. Four groups of HIV-positive patients with TB (Group I), HIV-positive patients with neuropsychiatric symptoms (Group II), HIV-positive patients without neuropsychiatric symptoms or TB (Group III), and HIV-negative controls with neuropsychiatric symptoms (Group IV). Vitamin B 12 and folate estimation was done using carbonyl metallo-immunoassay method. ANOVA, Kruskal-Wallis and Mann-Whitney, Pearson's correlation. The prevalence of folic acid deficiency was 27.1% in the Group I, 31.9% in the Group II, 23.4% in the Group III, and 32% in the Group IV being higher in patients with neuropsychiatric symptoms in both HIV and non-HIV patients. The prevalence of Vitamin B 12 deficiency was 18.8% in Group I, 9.1% in Group II, 4.8% in Group III, and 16.7% in Group IV. The patients with folate deficiency had more severe depression and anxiety. Nearly, 30% of the HIV patients had a folic acid deficiency, and about 10% of the HIV patients had Vitamin B 12 deficiency. The folate deficiency was highest among neuropsychiatric patients with or without HIV infection and Vitamin B 12 deficiency was higher among HIV patients with TB.

Fatal nevirapine-induced Stevens- Johnson syndrome with HIV ...

African Journals Online (AJOL)

2014-06-01

Jun 1, 2014 ... of Stevens-Johnson syndrome highlights the dilemmas and complications that may arise when prescribing multiple medications in HIV-associated ... HIV enters the central nervous system early in the course of HIV ... Affected individuals with SJS/TEN are genetically predisposed to developing severe ...

Selenium deficiency and pregnancy outcome in pregnant women with HIV in Lagos, Nigeria.

Science.gov (United States)

Okunade, Kehinde S; Olowoselu, Olusola F; Osanyin, Gbemisola E; John-Olabode, Sarah; Akanmu, Sulaimon A; Anorlu, Rose I

2018-04-16

To investigate the prevalence of maternal selenium deficiency and its effects on pregnancy outcomes in pregnant women with HIV in Lagos, Nigeria. The present descriptive cross-sectional study enrolled women aged 15-49 years with HIV who were at 14-26 weeks of a singleton pregnancy and were attending Lagos University Teaching Hospital, Lagos, Nigeria, between August 1, 2016, and April 30, 2017. Participants were selected by consecutive sampling and baseline data were collected through interviews. Venous blood samples were obtained to measure selenium concentrations, and associations between low maternal selenium concentrations (defined as <0.89 μmol/L) and pregnancy outcomes were examined using bivariate and multivariate analysis. The final analysis included 113 patients; selenium deficiency was recorded in 23 (20.4%) patients. Women with selenium deficiency had an approximately eight-fold higher risk of preterm delivery (adjusted odds ratio 7.61, 95% confidence interval 4.37-18.89; P=0.031) and of delivering a term neonate with a low delivery weight (adjusted odds ratio 8.11, 95% confidence interval 3.27-17.22; P=0.012), compared with women with a normal selenium concentration. The prevalence of selenium deficiency among pregnant women with HIV in Lagos was relatively high. The significant associations observed between maternal selenium deficiency and adverse pregnancy outcomes could have implications for the future management of HIV in pregnancy. © 2018 International Federation of Gynecology and Obstetrics.

The effect of HIV/AIDS on sexuality among HIV positive females ...

African Journals Online (AJOL)

Introduction: The impact and stigma associated with Human Immunodeficiency Virus/Acquired Immune Deficiency Syndrome (HIV/AIDS) has led to different sexual behaviours in affected individuals the resultant lack of proper sexual information and various accompanying misconception has led to a high transmission of HIV ...

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.

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

Science.gov (United States)

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

2016-01-01

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

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....

Novel syndrome of four-limb proximal fragility fractures associated with HIV infection, cholestatic liver failure, and histiocytic infiltration of bone marrow.

Science.gov (United States)

Yu, Run; Nissen, Nicholas N; Balzer, Bonnie; Fan, Xuemo

2012-01-01

We report a syndrome of four-limb proximal fragility fractures associated with HIV infection, cholestatic liver failure, and histiocytic infiltration of bone marrow in a 40-year-old African American man. The patient presented with multiple fractures in the proximal humeri and femurs without osteopenia in the vertebrae. His right humerus appeared normal on chest X-ray film 3 years before presentation when he was first diagnosed with HIV infection and abnormal liver functions. At presentation, the patient had vitamin D deficiency, hypogonadism, and low IGF- 1 levels, but did not have hyperparathyroidism. Bone biopsy showed diffuse foamy histiocytic infiltration of bone marrow at all fracture sites without evidence of infectious or neoplastic processes. Exhaustive search did not identify any similar cases in the English literature. Our case likely represents a novel syndrome, the etiology of which is probably multifactorial and includes HIV infection, cholestatic liver failure, immobility, and endocrine abnormalities. The case further calls for the need for monitoring of bone health in patients with HIV infection or liver disease.

Drugs + HIV, Learn the Link

Medline Plus

Full Text Available ... Consequences of Drug Misuse Hepatitis (Viral) HIV/AIDS Mental Health Military Opioid ... virus) is the virus that causes AIDS (acquired immune deficiency syndrome). AIDS is a disease of the immune system for which there is ...

Late presentation to HIV care despite good access to health services

DEFF Research Database (Denmark)

Darling, Katharine Ea; Hachfeld, Anna; Cavassini, Matthias

2016-01-01

infection rates are rising, and diagnosing HIV early in the course of infection remains a challenge. Late presentation to care in HIV refers to individuals newly presenting for HIV care with a CD4 count below 350 cells/µl or with an acquired immune deficiency syndrome (AIDS)-defining event. Late...

Imaging of the brain in the HIV-positive child

International Nuclear Information System (INIS)

Safriel, Y.I.

2000-01-01

The prevalence of human immune-deficiency virus (HIV) infection around the world, coupled with increasing population movement, make it likely that many physicians will treat HIV-infected patients. New treatment protocols for the specific manifestations of acquired immune-deficiency syndrome (AIDS) make distinguishing the different neurological diseases of great importance. The pattern of disease in children differs from those of adults both in its distribution and etiology. This article encapsulates the salient aspects relating to the imaging of the brain in HIV-positive children, paying particular attention to recent advances and the different features of the various pathological conditions affecting the HIV-infected brain in children. (orig.)

Acute retroviral syndrome in Slovenian patients infected with HIV

Directory of Open Access Journals (Sweden)

Mateja Pirš

2005-06-01

Full Text Available Background: Two to six weeks after primary infection with HIV 50 to 90 percent of patients develop an acute retroviral syndrome which usually presents with mononucleosis or flu-like illness. Due to nonspecific symptoms ARS is frequently misdiagnosed.Patients and methods: Data of Slovenian patients with acute retroviral syndrome is shown, as well as their symptoms, approaches to management and diagnostic particularities of primary HIV infection.Conclusions: The combination of particular symptoms and epidemiological data should lead us to consider the possibility of an early HIV infection.

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.

Challenges in the management of osteoporosis and vitamin D deficiency in HIV infection.

Science.gov (United States)

Brown, Todd T

2013-01-01

Until 2013, the National Osteoporosis Foundation guidelines did not include HIV infection and highly active antiretroviral therapy as osteoporosis risk factors that should trigger dual-energy x-ray absorptiometry (DEXA) screening for low bone mineral density (BMD) in older adults, but numerous data indicate that individuals with HIV infection are at early and increased risk for osteoporosis and fracture. For this reason, experts support the use of DEXA screening for HIV-infected postmenopausal women and men older than 50 years. Factors contributing to increased risk of low BMD in individuals with HIV infection include inflammation, effects of antiretroviral therapy, and numerous patient risk factors, including vitamin D deficiency. Workup for low BMD should include assessment for fracture risk and secondary causes of low BMD, including vitamin D deficiency, hyperparathyroidism, subclinical hyperthyroidism, hypogonadism, and phosphate wasting. Bisphosphonates are the preferred treatment to prevent fracture in low BMD but are not appropriate for treating osteomalacia, which is characterized by vitamin D deficiency and phosphate wasting. This article summarizes a presentation by Todd T. Brown, MD, PhD, at the IAS-USA continuing education program held in Atlanta, Georgia, in April 2013.

Paroxysmal Exercise-induced Dyskinesias Caused by GLUT1 Deficiency Syndrome

Directory of Open Access Journals (Sweden)

Marie Mongin

2016-03-01

Full Text Available 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.

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.

Partial biotinidase deficiency associated with Coffin-Siris syndrome.

Science.gov (United States)

Burlina, A B; Sherwood, W G; Zacchello, F

1990-06-01

Coffin-Siris syndrome is an infrequent condition characterised by mental retardation, nail hypoplasia or absence with fifth digit involvement and feeding problems. In addition, sparse scalp hair and chronic intractable eczema has been described in this syndrome. We report a 26-month-old girl with the disease and partial biotinidase deficiency.

Human immunodeficiency virus-associated disruption of mucosal barriers and its role in HIV transmission and pathogenesis of HIV/AIDS disease

Science.gov (United States)

Tugizov, Sharof

2016-01-01

Abstract Oral, intestinal and genital mucosal epithelia have a barrier function to prevent paracellular penetration by viral, bacterial and other pathogens, including human immunodeficiency virus (HIV). HIV can overcome these barriers by disrupting the tight and adherens junctions of mucosal epithelia. HIV-associated disruption of epithelial junctions may also facilitate paracellular penetration and dissemination of other viral pathogens. This review focuses on possible molecular mechanisms of HIV-associated disruption of mucosal epithelial junctions and its role in HIV transmission and pathogenesis of HIV and acquired immune deficiency syndrome (AIDS). PMID:27583187

Determinants of subjective health status of HIV positive mothers in ...

African Journals Online (AJOL)

BACKGROUND: Acquired immune deficiency syndrome (AIDS) caused by human immune deficiency virus (HIV), once dominated by infected males has become feminized especially in sub-Saharan Africa where the majority of adults living with the condition are females. Positive life styles, belonging to social support ...

Syndromes associated with nutritional deficiency and excess.

Science.gov (United States)

Jen, Melinda; Yan, Albert C

2010-01-01

Normal functioning of the human body requires a balance between nutritional intake and metabolism, and imbalances manifest as nutritional deficiencies or excess. Nutritional deficiency states are associated with social factors (war, poverty, famine, and food fads), medical illnesses with malabsorption (such as Crohn disease, cystic fibrosis, and after bariatric surgery), psychiatric illnesses (eating disorders, autism, alcoholism), and medications. Nutritional excess states result from inadvertent or intentional excessive intake. Cutaneous manifestations of nutritional imbalance can herald other systemic manifestations. This contribution discusses nutritional deficiency and excess syndromes with cutaneous manifestations of particular interest to clinical dermatologists. Copyright © 2010. Published by Elsevier Inc.

HIV infection and its effects on fracture healing: a literature review

African Journals Online (AJOL)

T - lymphotropic retrovirus from a patient at risk of acquired immune deficiency syndrome (AIDS). Science 1983; 220(4599):. 868–71. WHO. n.d. Interim WHO clinical staging of HIV/AIDS and. 2. HIV/AIDS case definitions for surveillance. 2010 http:// www.who.int/hiv/pub/guidelines/casedefinitions/en/. Cohen B, Piscioneri F, ...

Risk of AIDS related complex and AIDS in homosexual men with persistent HIV antigenaemia

NARCIS (Netherlands)

de Wolf, F.; Goudsmit, J.; Paul, D. A.; Lange, J. M.; Hooijkaas, C.; Schellekens, P.; Coutinho, R. A.; van der Noordaa, J.

1987-01-01

One hundred and ninety eight men seropositive for human immunodeficiency virus (HIV) antibody and 58 HIV antibody seroconverters were studied for an average of 19.3 (SEM 0.5) months to assess the relation between HIV antigenaemia and the risk of developing the acquired immune deficiency syndrome

Are cultural values and beliefs included in U.S. based HIV interventions?

OpenAIRE

Wyatt, GE; Williams, JK; Gupta, A; Malebranche, D

2012-01-01

Objective: To determine the extent to which current United States based human immunodeficiency virus/acquired immune deficiency syndrome (HIV/AIDS) prevention and risk reduction interventions address and include aspects of cultural beliefs in definitions, curricula, measures and related theories that may contradict current safer sex messages. Method: A comprehensive literature review was conducted to determine which published human immunodeficiency virus/acquired immune deficiency syndrome (H...

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

African Journals Online (AJOL)

IRORO YARHERE

Growth hormone treatment early in the course of management of a child with Turner syndrome may help achieve normal final height. Keywords: Turner's syndrome, short stature, growth hormone deficiency, growth hormone ..... cognitive deficit.

Classic Bartter syndrome complicated with profound growth hormone deficiency: a case report.

Science.gov (United States)

Adachi, Masanori; Tajima, Toshihiro; Muroya, Koji; Asakura, Yumi

2013-12-30

Classic Bartter syndrome is a salt-wasting tubulopathy caused by mutations in the CLCNKB (chloride channel Kb) gene. Although growth hormone deficiency has been suggested as a cause for persistent growth failure in patients with classic Bartter syndrome, in our opinion the diagnoses of growth hormone deficiency has been unconvincing in some reports. Moreover, Gitelman syndrome seems to have been confused with Bartter syndrome in some cases in the literature. In the present work, we describe a new case with CLCNKB gene mutations and review the reported cases of classic Bartter syndrome associated with growth hormone deficiency. Our patient was a Japanese boy diagnosed as having classic Bartter syndrome at eight months of age. The diagnosis of Bartter syndrome was confirmed by CLCNKB gene analysis, which revealed compound heterozygous mutations with deletion of exons 1 to 3 (derived from his mother) and ΔL130 (derived from his father). His medical therapy consisted of potassium (K), sodium chloride, spironolactone, and anti-inflammatory agents; this regime was started at eight months of age. Our patient was very short (131.1cm, -4.9 standard deviation) at 14.3 years and showed profoundly impaired growth hormone responses to pharmacological stimulants: 0.15μg/L to insulin-induced hypoglycemia and 0.39μg/L to arginine. His growth response to growth hormone therapy was excellent. The present case strengthens the association between classic Bartter syndrome and growth hormone deficiency. We propose that growth hormone status should be considered while treating children with classic Bartter syndrome.

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....

L-arginine:glycine amidinotransferase deficiency protects from metabolic syndrome.

Science.gov (United States)

Choe, Chi-un; Nabuurs, Christine; Stockebrand, Malte C; Neu, Axel; Nunes, Patricia; Morellini, Fabio; Sauter, Kathrin; Schillemeit, Stefan; Hermans-Borgmeyer, Irm; Marescau, Bart; Heerschap, Arend; Isbrandt, Dirk

2013-01-01

Phosphorylated creatine (Cr) serves as an energy buffer for ATP replenishment in organs with highly fluctuating energy demand. The central role of Cr in the brain and muscle is emphasized by severe neurometabolic disorders caused by Cr deficiency. Common symptoms of inborn errors of creatine synthesis or distribution include mental retardation and muscular weakness. Human mutations in l-arginine:glycine amidinotransferase (AGAT), the first enzyme of Cr synthesis, lead to severely reduced Cr and guanidinoacetate (GuA) levels. Here, we report the generation and metabolic characterization of AGAT-deficient mice that are devoid of Cr and its precursor GuA. AGAT-deficient mice exhibited decreased fat deposition, attenuated gluconeogenesis, reduced cholesterol levels and enhanced glucose tolerance. Furthermore, Cr deficiency completely protected from the development of metabolic syndrome caused by diet-induced obesity. Biochemical analyses revealed the chronic Cr-dependent activation of AMP-activated protein kinase (AMPK), which stimulates catabolic pathways in metabolically relevant tissues such as the brain, skeletal muscle, adipose tissue and liver, suggesting a mechanism underlying the metabolic phenotype. In summary, our results show marked metabolic effects of Cr deficiency via the chronic activation of AMPK in a first animal model of AGAT deficiency. In addition to insights into metabolic changes in Cr deficiency syndromes, our genetic model reveals a novel mechanism as a potential treatment option for obesity and type 2 diabetes mellitus.

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; de Wolf, F.; Zaheri, S.; Gras, L.; Bronsveld, W.; Hillebrand-Haverkort, M. E.; Prins, J. M.; Bos, J. C.; Eeftinck Schattenkerk, J. K. M.; Geerlings, S. E.; Godfried, M. H.; Lange, J. M. A.; van Leth, F. C.; Lowe, S. H.; van der Meer, J. T. M.; Nellen, F. J. B.; Pogány, K.; van der Poll, T.; Ruys, Th A.; Steingrover, R.; van Twillert, G.; van der Valk, M.; van Vonderen, M. G. A.; Vrouenraets, S. M. E.; van Vugt, M.; Wit, F. W. M. N.; van Eeden, A.; ten Veen, J. H.; van Dam, P. S.; Roos, J. C.; Brinkman, K.; Frissen, P. H. J.; Weigel, H. M.; Mulder, J. W.; van Gorp, E. C. M.; Meenhorst, P. L.; Mairuhu, A. T. A.; Veenstra, J.; Danner, S. A.; van Agtmael, M. A.; Claessen, F. A. P.

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.

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.

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

Science.gov (United States)

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

2017-06-01

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

Knowledge, attitude, and behavioral practices pertaining to human immunodeficiency virus/acquired immune deficiency syndrome among secondary school adolescents in makurdi, Nigeria

Directory of Open Access Journals (Sweden)

Ayu Agbecha

2017-01-01

Full Text Available Background: Adolescents knowledge with their safe practices pertaining to human immunodeficiency virus (HIV has a critical impact on the prevention of contracting and spreading HIV. Reports have shown that adolescents in the general setting engage in activities that enhance the spread of the virus. Aim: The study assessed school adolescent's HIV/acquired immune deficiency syndrome (AIDS knowledge, with its impact on their behaviors and attitudes regarding the infection. Materials and Methods: Two hundred randomly selected adolescent students from 10 different schools in the city metropolis were involved in the cross-sectional study. Primary data were collected using a validated self-administered questionnaire on students HIV/AIDS knowledge, attitude toward people living with HIV/AIDS (PLWHA, and safe practices preventing the spread of HIV/AIDS. Results: The study observed that majority of the students had good knowledge about HIV/AIDS, had good attitude toward PLWHA, and engaged in safe practices that prevent the spread of HIV. The sources of HIV/AIDS information were hospital, school, home, electronic, and print media. The study also found that HIV/AIDS knowledge instilled good attitudes and behavioral practices in the students. Conclusion: The study shows that school sex education, as well as health promotion campaigns through media platforms, could impact positively on the knowledge, attitude, and behavioral practices of adolescents in curbing the spread of HIV/AIDS.

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

Science.gov (United States)

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

1999-01-01

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

G6PD Deficiency in an HIV Clinic Setting in the Dominican Republic

Science.gov (United States)

Xu, Julia Z.; Francis, Richard O.; Lerebours Nadal, Leonel E.; Shirazi, Maryam; Jobanputra, Vaidehi; Hod, Eldad A.; Jhang, Jeffrey S.; Stotler, Brie A.; Spitalnik, Steven L.; Nicholas, Stephen W.

2015-01-01

Because human immunodeficiency virus (HIV)-infected patients receive prophylaxis with oxidative drugs, those with glucose-6-phosphate dehydrogenase (G6PD) deficiency may experience hemolysis. However, G6PD deficiency has not been studied in the Dominican Republic, where many individuals have African ancestry. Our objective was to determine the prevalence of G6PD deficiency in Dominican HIV-infected patients and to attempt to develop a cost-effective algorithm for identifying such individuals. To this end, histories, chart reviews, and G6PD testing were performed for 238 consecutive HIV-infected adult clinic patients. The overall prevalence of G6PD deficiency (8.8%) was similar in males (9.3%) and females (8.5%), and higher in Haitians (18%) than Dominicans (6.4%; P = 0.01). By logistic regression, three clinical variables predicted G6PD status: maternal country of birth (P = 0.01) and a history of hemolysis (P = 0.01) or severe anemia (P = 0.03). Using these criteria, an algorithm was developed, in which a patient subset was identified that would benefit most from G6PD screening, yielding a sensitivity of 94.7% and a specificity of 97.2%, increasing the pretest probability (8.8–15.1%), and halving the number of patients needing testing. This algorithm may provide a cost-effective strategy for improving care in resource-limited settings. PMID:26240158

Existentially informed HIV-related psychotherapy.

Science.gov (United States)

Farber, Eugene W

2009-09-01

This article describes an existentially informed approach to conducting psychotherapy with individuals living with the human immunodeficiency virus (HIV) and acquired immune deficiency syndrome (AIDS). Uses of existential concepts to guide a holistic conceptualization of the individual and illuminate core existential concerns and dilemmas in confronting HIV-related challenges are delineated. Applications of existential ideas regarding psychotherapy process and technique in HIV-related psychotherapy also are illustrated. It is concluded that existential psychotherapy offers a conceptual framework that is especially well suited to the work of psychotherapy with individuals living with HIV disease, although the approach has received only limited attention in the HIV-related psychotherapy literature. (PsycINFO Database Record (c) 2010 APA, all rights reserved).

Impact of alemtuzumab on HIV persistence in an HIV-infected individual on antiretroviral therapy with Sezary syndrome.

Science.gov (United States)

Rasmussen, Thomas A; McMahon, James; Chang, J Judy; Symons, Jori; Roche, Michael; Dantanarayana, Ashanti; Okoye, Afam; Hiener, Bonnie; Palmer, Sarah; Lee, Wen Shi; Kent, Stephen J; Van Der Weyden, Carrie; Prince, H Miles; Cameron, Paul U; Lewin, Sharon R

2017-08-24

To study the effects of alemtuzumab on HIV persistence in an HIV-infected individual on antiretroviral therapy (ART) with Sezary syndrome, a rare malignancy of CD4 T cells. Case report. Blood was collected 30 and 18 months prior to presentation with Sezary syndrome, at the time of presentation and during alemtuzumab. T-cell subsets in malignant (CD7-CD26-TCR-VBeta2+) and nonmalignant cells were quantified by flow cytometry. HIV-DNA in total CD4 T cells, in sorted malignant and nonmalignant CD4 T cells, was quantified by PCR and clonal expansion of HIV-DNA assessed by full-length next-generation sequencing. HIV-hepatitis B virus coinfection was diagnosed and antiretroviral therapy initiated 4 years prior to presentation with Sezary syndrome and primary cutaneous anaplastic large cell lymphoma. The patient received alemtuzumab 10 mg three times per week for 4 weeks but died 6 weeks post alemtuzumab. HIV-DNA was detected in nonmalignant but not in malignant CD4 T cells, consistent with expansion of a noninfected CD4 T-cell clone. Full-length HIV-DNA sequencing demonstrated multiple defective viruses but no identical or expanded sequences. Alemtuzumab extensively depleted T cells, including more than 1 log reduction in total T cells and more than 3 log reduction in CD4 T cells. Finally, alemtuzumab decreased HIV-DNA in CD4 T cells by 57% but HIV-DNA remained detectable at low levels even after depletion of nearly all CD4 T cells. Alemtuzumab extensively depleted multiple T-cell subsets and decreased the frequency of but did not eliminate HIV-infected CD4 T cells. Studying the effects on HIV persistence following immune recovery in HIV-infected individuals who require alemtuzumab for malignancy or in animal studies may provide further insights into novel cure strategies.

Iron deficiency in children with HIV-associated anaemia: a systematic review and meta-analysis

NARCIS (Netherlands)

Esan, Michael O.; Jonker, Femkje A. M.; Hensbroek, Michael Boele van; Calis, Job C. J.; Phiri, Kamija S.

2012-01-01

We conducted a systematic review and meta-analysis to determine the prevalence of iron deficiency in HIV-infected children from high- and low-income settings and compared it with that of HIV-uninfected controls. We searched five major databases for primary studies reporting on anaemia and iron

Influenza-like syndrome in homosexual men: a prospective diagnostic study

NARCIS (Netherlands)

de Wolf, F.; Lange, J. M.; Bakker, M.; Tjong-A-Hung, S.; Hooykaas, C.; Coutinho, R.; van der Noordaa, J.; Goudsmit, J.

1988-01-01

In the course of a prospective study of the prevalence and incidence of infection with the human immunodeficiency virus (HIV) and risk factors for the acquired immune deficiency syndrome among 961 homosexual men, 97 initially HIV antibody seronegative men reported a febrile period lasting at least

Iron deficiency anemia and Plummer–Vinson syndrome: current insights

Directory of Open Access Journals (Sweden)

Goel A

2017-10-01

Full Text Available Amit Goel,1 Satvinder Singh Bakshi,2 Neetu Soni,3 Nanda Chhavi4 1Department of Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India; 2Department of Otorhinolaryngology and Head and Neck Surgery, Mahatma Gandhi Medical College and Research Institute, Puducherry, India; 3Department of Radiodiagnosis, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India; 4Department of Pediatrics, Era’s Lucknow Medical College, Lucknow, India Abstract: Plummer–Vinson syndrome (PVS, a rare clinical condition, is characterized by a triad of dysphagia, iron deficiency anemia and esophageal web in the post-cricoid region. It was first described over a century ago. However, literature on this condition remains scanty, and its prevalence appears to be declining worldwide, possibly due to improvements in nutrition over time. The condition has been reported most commonly in thin-built, middle-aged, white women. The esophageal webs in PVS are thin mucosal folds, which are best seen either in lateral views at barium swallow or at esophagoscopy. These are usually semilunar or crescentic, being located most often along the anterior esophageal wall, but can be concentric. The exact cause and pathogenesis of PVS remain unclear, though iron and other nutritional deficiencies, genetic predisposition and autoimmunity have all been implicated in formation of the webs. Treatment includes correction of iron deficiency and endoscopic dilation of the esophageal webs to relieve dysphagia. PVS is associated with an increased risk of hypopharyngeal and esophageal malignancies. Correction of iron deficiency may arrest and reverse the mucosal changes and possibly reduces this risk. Keywords: Plummer–Vinson syndrome, Paterson–Brown–Kelly syndrome, esophageal web, dysphagia, iron deficiency anemia

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.

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…

de Toni-Fanconi-Debré syndrome with Leigh syndrome revealing severe muscle cytochrome c oxidase deficiency

NARCIS (Netherlands)

Ogier, H.; Lombes, A.; Scholte, H. R.; Poll-The, B. T.; Fardeau, M.; Alcardi, J.; Vignes, B.; Niaudet, P.; Saudubray, J. M.

1988-01-01

We describe a patient with severe muscle cytochrome c oxidase deficiency who had de Toni-Fanconi-Debré syndrome and acute neurologic deterioration resembling Leigh syndrome, without clear evidence of muscle abnormality. Metabolic investigations revealed elevated cerebrospinal fluid lactate values

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

Science.gov (United States)

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

2015-10-01

Growth hormone deficiency affects roughly between one in 3000 and one in 4000 children with most instances of growth hormone deficiency being idiopathic. Growth hormone deficiency can also be associated with genetic diseases or chromosome abnormalities. Association of growth hormone deficiency together with hypothalamic-pituitary axis malformation and Cat-Eye syndrome is a very rare condition. We report a family with two brothers presenting with growth delay due to a growth hormone deficiency associated with a polymalformation syndrome. They both displayed pre-auricular pits and tags, imperforate anus and Duane retraction syndrome. Both parents and a third unaffected son displayed normal growth pattern. Cerebral MRI showed a hypothalamic-pituitary axis malformation in the two affected brothers. Cytogenetic studies revealed a type I small supernumerary marker chromosome derived from chromosome 22 resulting in a tetrasomy 22pter-22q11.21 characteristic of the Cat-Eye syndrome. The small supernumerary marker chromosome was present in the two affected sons and the mother in a mosaic state. Patients with short stature due to growth hormone deficiency should be evaluated for chromosomal abnormality. Family study should not be underestimated. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

Acceptability of HIV/AIDS testing among pre-marital couples in Iran (2012)

OpenAIRE

Ayatollahi, Jamshid; Nasab Sarab, Mohammad Ali Bagheri; Sharifi, Mohammad Reza; Shahcheraghi, Seyed Hossein

2014-01-01

Background: Human immunodeficiency virus (HIV)/acquired immune deficiency syndrome (AIDS) is a lifestyle-related disease. This disease is transmitted through unprotected sex, contaminated needles, infected blood transfusion and from mother to child during pregnancy and delivery. Prevention of infection with HIV, mainly through safe sex and needle exchange programmes is a solution to prevent the spread of the disease. Knowledge about HIV state helps to prevent and subsequently reduce the harm ...

HAART in HIV/AIDS Treatments: Future Trends.

Science.gov (United States)

Lu, Da-Yong; Wu, Hong-Ying; Yarla, Nagendra Sastry; Xu, Bin; Ding, Jian; Lu, Ting-Ren

2018-01-01

AIDS (acquired immune deficient syndrome) is a deadly human viral infectious disease caused by HIV (human immune-deficient virus) infection. Almost every AIDS patient losses his/her life before mid 1990s. AIDS was once the 1st disease killer in US (1993). After one decade hard work, antiviral drug cocktails-high active anti-retroviral therapy (HAART) have been invented for almost all HIV infection treatments. Due to the invention of HAART, 80-90% HIV/AIDS patients still effectively response to HAART for deadly AIDS episode controls and life saving. Yet, this type of HIV therapeutics is incurable. HIV/AIDS patients need to take HAART medications regularly and even life-long. To counteract this therapeutic drawback, more revolutionary efforts (different angles of therapeutic modes/attempts) are urgently needed. In this article, the major progresses and drawbacks of HIV/AIDS chemotherapy (HAART) to HIV/AIDS patients have been discussed. Future trends (updating pathogenesis study, next generations of drug developments, new drug target discovery, different scientific disciplinary and so on) are highlighted. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

Gynaecological and Reproductive Health Issues in HIV-Positive ...

African Journals Online (AJOL)

BACKGROUND: Women constitute over 60 percent of the HIVinfected population in sub-saharan Africa. Highly active antiretroviral therapy (HAART) has improved the life span of people living with human immunodeficiency virus (HIV) and acquired immune deficiency syndrome (AIDS). Advances in scientific knowledge and ...

Biochemical Manifestation of HIV Lipodystrophy Syndrome.

Science.gov (United States)

Ihenetu, Kenneth; Mason, Darius

2012-01-01

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. 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. 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). 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.

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....... They include multiple hyperpigmented and hypopigmented skin areas, brain malformations, pilomatricomas, a second childhood malignancy, a Lynch syndrome (LS)-associated tumour in a relative and parental consanguinity. According to the scoring system, CMMRD should be suspected in any cancer patient who reaches...... patient. Tumours highly specific for CMMRD syndrome are assigned three points, malignancies overrepresented in CMMRD two points and all other malignancies one point. According to their specificity for CMMRD and their frequency in the general population, additional features are weighted with 1-2 points...

Selective serotonin reuptake inhibitor suppression of HIV infectivity and replication.

Science.gov (United States)

Benton, Tami; Lynch, Kevin; Dubé, Benoit; Gettes, David R; Tustin, Nancy B; Ping Lai, Jian; Metzger, David S; Blume, Joshua; Douglas, Steven D; Evans, Dwight L

2010-11-01

To test the hypothesis that the selective serotonin reuptake inhibitor (SSRI) citalopram would down-regulate human immunodeficiency virus (HIV) infectivity and that the greatest effects would be seen in people with depression. Depression is a risk factor for morbidity and mortality in HIV/acquired immune deficiency syndrome. Serotonin (5-HT) neurotransmission has been implicated in the pathobiology of depression, and pharmacologic therapies for depression target this system. The 5-HT transporter and 5-HT receptors are widely distributed throughout the central nervous and immune systems. Depression has been associated with suppression of natural killer cells and CD8(+) lymphocytes, key regulators of HIV infection. Ex vivo models for acute and chronic HIV infection were used to study the effects of citalopram on HIV viral infection and replication in 48 depressed and nondepressed women. For both the acute and chronic infection models, HIV reverse transcriptase activity was measured in the citalopram treatment condition and the control condition. The SSRI significantly down-regulated the reverse transcriptase response in both the acute and chronic infection models. Specifically, citalopram significantly decreased the acute HIV infectivity of macrophages. Citalopram also significantly decreased HIV viral replication in the latently infected T-cell line and in the latently infected macrophage cell line. There was no difference in down-regulation by depression status. These studies suggest that an SSRI enhances natural killer/CD8 noncytolytic HIV suppression in HIV/acquired immune deficiency syndrome and decreases HIV viral infectivity of macrophages, ex vivo, suggesting the need for in vivo studies to determine a potential role for agents targeting serotonin in the host defense against HIV.

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.

Risk of AIDS related complex and AIDS in homosexual men with persistent HIV antigenaemia.

OpenAIRE

de Wolf, F; Goudsmit, J; Paul, D A; Lange, J M; Hooijkaas, C; Schellekens, P; Coutinho, R A; van der Noordaa, J

1987-01-01

One hundred and ninety eight men seropositive for human immunodeficiency virus (HIV) antibody and 58 HIV antibody seroconverters were studied for an average of 19.3 (SEM 0.5) months to assess the relation between HIV antigenaemia and the risk of developing the acquired immune deficiency syndrome (AIDS) and AIDS related complex. Forty (20.2%) of the 198 HIV antibody seropositive men were antigen positive at entry and remained so during follow up. Eight (13.8%) of the 58 HIV antibody seroconver...

Hyper-IgD syndrome or mevalonate kinase deficiency.

NARCIS (Netherlands)

Stoffels, M.; Simon, A.

2011-01-01

PURPOSE OF REVIEW: The hyper-IgD and periodic fever syndrome (HIDS) is one of the classical monogenetic hereditary autoinflammatory disorders, and together with the more severe mevalonic aciduria it is also known as 'mevalonate kinase deficiency' (MKD). In this study, we will give an overview of the

Autosomal recessive inheritance of GLUT1 deficiency syndrome.

NARCIS (Netherlands)

Klepper, J.; Scheffer, H.; Elsaid, M.F.; Kamsteeg, E.J.; Leferink, M.; Ben-Omran, T.

2009-01-01

GLUT1 deficiency syndrome (GLUT1DS) is understood as a monogenetic disease caused by heterozygous SLC2A1 gene mutations with autosomaldominant and sporadic transmission. We report on a six-year-old girl from an inbred Arab family with moderate global developmental delay, epilepsy, ataxia, hypotonia,

[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.

Determination of HIV status of infants born to HIV-infected mothers: A review of the diagnostic methods with special focus on the applicability of p24 antigen testing in developing countries

DEFF Research Database (Denmark)

Wessman, Maria J; Theilgaard, Zahra Persson; Katzenstein, Terese L

2012-01-01

Abstract In 2009, 2.5 million children under the age of 15 y were living with human immunodeficiency virus/acquired immune deficiency syndrome (HIV/AIDS); 370,000 were diagnosed with HIV and 260,000 died due to AIDS. More than 90% of the children infected with HIV live in sub-Saharan Africa. Most...... children infected with HIV contract the infection in utero, during delivery, or via breast milk. This review outlines the current diagnostic methods to determine the HIV status of infants born to HIV-infected mothers. The HIV DNA and RNA polymerase chain reaction (PCR) tests are highly accurate...

Prevalence of Metabolic Syndrome in Patients with HIV in the Era of Highly Active Antiretroviral Therapy.

Science.gov (United States)

Lombo, Bernardo; Alkhalil, Imran; Golden, Marjorie P; Fotjadhi, Irma; Ravi, Sreedhar; Virata, Michael; Lievano, Marta; Diez, Jose; Ghantous, Andre; Donohue, Thomas

2015-05-01

Since the introduction of combination antiretroviral therapy (cART) as the standard of care for HIV disease, there has been a precipitous decline in the death rate due to HIV/ AIDS. The purpose of this study was to report the prevalence of metabolic syndrome in HIV infected patients. Retrospective, cross-sectional, observational study of 259 patients with HIV infection treated with cART from an urban community hospital. Metabolic syndrome prevalence was defined using the International Diabetes Federation (IDF) and the U.S. National Cholesterol Education Program Adult Treatment Panel III (ATP III) criteria. Study patients were included regardless of the duration of cART. The prevalence of metabolic syndrome was 27% using IDF criteria and 26% using ATP III criteria. Logistic regression analysis found an association between treatment with the protease inhibitor darunavir and metabolic syndrome. (OR 3.32 with 95% confidence interval between 1.54 and 7.15). There is a high prevalence of metabolic syndrome and obesity in HIV patients treated with cART, especially those taking the protease inhibitor darunavir.

EFL Teachers' Perceptions of Strategy Deficiency Syndrome: A Grounded Theory Study

Science.gov (United States)

Ostovar-Namaghi, Seyyed Ali; Ahmadabadi-Tak, Bahareh

2017-01-01

Strategy-deficient language learners struggle to develop their language proficiency through limiting and inappropriate strategies. This study aims at exploring experienced teachers' perceptions of strategy deficiency syndrome among EFL learners. To this end, the perspectives of a purposive sample of experienced teachers teaching in private…

Cockayne syndrome: a case with hyperinsulinemia and growth hormone deficiency.

OpenAIRE

Park, S. K.; Chang, S. H.; Cho, S. B.; Baek, H. S.; Lee, D. Y.

1994-01-01

Cockayne syndrome is a rare autosomal recessive disorder of childhood characterized by cachectic dwarfism with senile-like appearance, mental retardation, photosensitive dermatitis, loss of adipose tissue, pigmentary degeneration of retina, microcephaly, deafness, skeletal and neurologic abnormalities. We describe here an 18 year old boy with Cockayne syndrome who had, in addition to the typical features of the disorder, fasting hyperinsulinemia and growth hormone deficiency.

Associations between depressive syndromes and HIV risk behaviors among San Francisco men who have sex with men.

Science.gov (United States)

Chen, Yea-Hung; Raymond, Henry Fisher

2017-12-01

HIV prevention plans for men who have sex with men (MSM) are often multifaceted. They involve reduction of sexual risk behaviors, such as condomless intercourse, but also often include pharmaceutical approaches, such as early treatment of HIV-infected individuals with antiretroviral therapy (ART). Effectiveness is possibly threatened by individual-level factors, such as depression. In this study of 322 San Francisco MSM (240 HIV-uninfected individuals and 82 HIV-infected individuals, according to self-report), we examine associations between depressive syndromes and HIV risk behaviors (sexual risk behaviors and ART non-adherence). Our study failed to find evidence that depressive syndromes lead to increases in ART non-adherence (risk difference, RD: 27.9; 95% confidence interval, CI: -3.5, 59.3). However, the study does suggest an association between depressive syndromes and concurrence of non-adherence and potentially HIV-discordant condomless receptive anal intercourse (RD: 36.0; 95% CI: 5.2, 66.8). Among HIV-uninfected MSM, our study suggests negative associations between depressive syndromes and sexual risk behaviors. We recommend screening and treatment of depression among HIV-infected MSM.

Growth hormone receptor deficiency (Laron syndrome) in black ...

African Journals Online (AJOL)

Non-Caucasians with growth honnone receptor (GHR) deficiency/Lamn syndrome among the .... 4,3 cm (-2,4 SOS for bone age 8,5 years at age 12); the girl's height at age 7 years was 77,5 cm (-8,0 SOS, height ... of serum incubated with '25I-labelled human growth hormone and expressed as relative specific binding ...

HIV positive patient with GBS-like syndrome.

Science.gov (United States)

Shepherd, Samantha J; Black, Heather; Thomson, Emma C; Gunson, Rory N

2017-08-01

Introduction. Guillain-Barré Syndrome (GBS) is an acute demyelinating polyneuropathy which can occur post-infection. Criteria of diagnosis of GBS include areflexia with progressive bilateral weakness in arms and legs. GBS can lead to severe respiratory and cardiac complications. The fatality rate can be up to 5 % in patients, depending on the severity of the symptoms. HIV can cause a range of neurological disorders including, on rare occasions, GBS. GBS can occur at any stage of HIV infection, highlighting the complexity of diagnosis of GBS within HIV patients. Case presentation. A 57 year old female with lumbar back pain radiating to the legs, poor mobility and tiredness, with reports of a viral-like illness four days previously, was initially diagnosed with a lower respiratory tract infection and discharged. Seventeen days later the patient was readmitted to hospital with progressive lower and upper limb weakness, areflexia and sensory loss. She was diagnosed with GBS and was unexpectedly discovered to be HIV-positive. HIV avidity was low indicating a recently acquired HIV infection. The patient was treated with intravenous immunoglobulin for five days for the GBS and commenced antriretrovirals for HIV. The patient was discharge from hospital 53 days after admission with walking aids and regular physiotherapy follow-up. . This case highlighted the need for all clinicians to be aware that patients with symptoms of GBS, regardless of clinical history should be offered an HIV test. GBS can be the first sign a patient is HIV-positive.

Ocular manifestations in HIV-AIDS patients in a Nigerian community

African Journals Online (AJOL)

2011-11-23

Nov 23, 2011 ... on limited financial, medical and human resources.3,4 The first HIV ... acquired immune deficiency syndrome (AIDS) among the study population. Method: A ... medical outpatient centre and the eye clinic of the hospital. ..... Energy Information Administration: official energy statistics from the US Government.

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…

[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.

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.

Constitutional mismatch repair deficiency syndrome: Do we know it?

Science.gov (United States)

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

2014-04-01

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

Paradigm Shift in HIV Testing; Getting Along or Getting Behind ...

African Journals Online (AJOL)

In the last twenty five years, the Human Immunodeficiency Virus (HIV), the causative organism of the Acquired Immune Deficiency Syndrome (AIDS) has assumed a frontline position worldwide in health discourse. In the early days of the characterization of the clinical spectrum caused by infection with this virus, screening ...

HIV/AIDS and older adults in Cameroon: Emerging issues and ...

African Journals Online (AJOL)

The burden of human immunodeficiency virus (HIV) infection and acquired immune deficiency syndrome (AIDS) on the elderly population in three divisions within the Northwest Region of Cameroon was examined. Data for this paper were extracted from a larger study which had been conducted concerning the burden of ...

HIV-Associated Lung Cancer.

Science.gov (United States)

Kiderlen, Til R; Siehl, Jan; Hentrich, Marcus

2017-01-01

Lung cancer (LC) is one of the most common non-AIDS (acquired immune deficiency syndrome)-defining malignancies. It occurs more frequently in persons living with human immunodeficiency virus (PLWHIV) than in the HIV-negative population. Compared to their HIV-negative counterparts, patients are usually younger and diagnosed at more advanced stages. The pathogenesis of LC in PLWHIV is not fully understood, but immunosuppression in combination with chronic infection and the oncogenic effects of smoking and HIV itself all seem to play a role. Currently, no established preventive screening is available, making smoking cessation the most promising preventive measure. Treatment protocols and standards are the same as for the general population. Notably, immuno-oncology will also become standard of care in a significant subset of HIV-infected patients with LC. As drug interactions and hematological toxicity must be taken into account, a multidisciplinary approach should include a physician experienced in the treatment of HIV. Only limited data is available on novel targeted therapies and checkpoint inhibitors in the setting of HIV. © 2017 S. Karger GmbH, Freiburg.

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.

Tingkat Pengetahuan dan Sikap Pelajar SMA Negeri Siabu Mandailing Natal Angkatan 2011 tentang HIV/ AIDS Tahun

OpenAIRE

Nasution, Yusda Rahayu

2012-01-01

HIV is a retrovirus that damage the immune system while AIDS (Acquired Immune Deficiency Syndrome) is a set of symptoms that caused by the lower of body immune system caused by HIV (Human Immunodeficiency virus) infection. HIV/AIDS is one of diseases that cause the higher mortality rate and the number of patient is increase over time. Therefore, the student must has knowledge and good understanding about HIV/AIDS. This research aims to study the knowledge level and attitude of student abou...

Comparative transcriptome analysis of PBMC from HIV patients pre- and post-antiretroviral therapy

DEFF Research Database (Denmark)

Zhao, Fang-Jie; Ma, Jinmin; Huang, Lihua

2017-01-01

Infections of the human immunodeficiency virus (HIV) trigger host immune responses, but the virus can destroy the immune system and cause acquired immune deficiency syndrome (AIDS). Highly active antiretroviral therapy (HAART) can suppress viral replication and restore the impaired immune function......, minimum numbers of patients (one HIV alone; one HIV + tuberculosis, TB; one HIV + TB with immune reconstitution inflammatory syndrome during HAART) and two HIV negative volunteers were used. More than 15,000 gene transcripts were detected in each individual sample. Fourteen HAART up-regulated and eleven...... down-regulated DEGs were specifically identified in the HIV patients. Among them, nine up-regulated (CXCL1, S100P, AQP9, BASP1, MMP9, SOD2, LIMK2, IL1R2 and BCL2A1) and nine down-regulated DEGs (CD160, CD244, CX3CR1, IFIT1, IFI27, IFI44, IFI44L, MX1 and SIGLEC1) have already been reported as relevant...

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.

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,

Are cultural values and beliefs included in U.S. based HIV interventions?

Science.gov (United States)

Wyatt, Gail E; Williams, John K; Gupta, Arpana; Malebranche, Dominique

2012-11-01

To determine the extent to which current United States based human immunodeficiency virus/acquired immune deficiency syndrome (HIV/AIDS) prevention and risk reduction interventions address and include aspects of cultural beliefs in definitions, curricula, measures and related theories that may contradict current safer sex messages. A comprehensive literature review was conducted to determine which published human immunodeficiency virus/acquired immune deficiency syndrome (HIV/AIDS) prevention and risk reduction interventions incorporated aspects of cultural beliefs. This review of 166 human immunodeficiency virus (HIV) prevention and risk reduction interventions, published between 1988 and 2010, identified 34 interventions that varied in cultural definitions and the integration of cultural concepts. human immunodeficiency virus (HIV) interventions need to move beyond targeting specific populations based upon race/ethnicity, gender, sexual, drug and/or risk behaviors and incorporate cultural beliefs and experiences pertinent to an individual's risk. Theory based interventions that incorporate cultural beliefs within a contextual framework are needed if prevention and risk reduction messages are to reach targeted at risk populations. Implications for the lack of uniformity of cultural definitions, measures and related theories are discussed and recommendations are made to ensure that cultural beliefs are acknowledged for their potential conflict with safer sex skills and practices. Copyright © 2011. Published by Elsevier Inc.

A Sandwich HIV p24 Amperometric Immunosensor Based on a Direct Gold Electroplating-Modified Electrode

Directory of Open Access Journals (Sweden)

Ning Gan

2012-05-01

Full Text Available Acquired immune deficiency syndrome (AIDS is a severe communicable immune deficiency disease caused by the human immune deficiency virus (HIV. The analysis laboratory diagnosis of HIV infection is a crucial aspect of controlling AIDS. The p24 antigen, the HIV-1 capsid protein, is of considerable diagnostic interest because it is detectable several days earlier than host-generated HIV antibodies following HIV exposure. We present herein a new sandwich HIV p24 immunosensor based on directly electroplating an electrode surface with gold nanoparticles using chronoamperometry, which greatly increased the conductivity and reversibility of the electrode. Under optimum conditions, the electrochemical signal showed a linear relationship with the concentration of p24, ranging from 0.01 ng/mL to 100 ng/mL (R > 0.99, and the detection limit was 0.008 ng/mL. Compared with ELISA, this method increased the sensitivity by more than two orders of magnitude (the sensitivity of ELISA for p24 is about 1 ng/mL. This immunosensor may be broadly applied to clinical samples, being distinguished by its ease of use, mild reaction conditions, guaranteed reproducibility, and good anti-interference ability.

A sandwich HIV p24 amperometric immunosensor based on a direct gold electroplating-modified electrode.

Science.gov (United States)

Zheng, Lei; Jia, Liyong; Li, Bo; Situ, Bo; Liu, Qinlan; Wang, Qian; Gan, Ning

2012-05-18

Acquired immune deficiency syndrome (AIDS) is a severe communicable immune deficiency disease caused by the human immune deficiency virus (HIV). The analysis laboratory diagnosis of HIV infection is a crucial aspect of controlling AIDS. The p24 antigen, the HIV-1 capsid protein, is of considerable diagnostic interest because it is detectable several days earlier than host-generated HIV antibodies following HIV exposure. We present herein a new sandwich HIV p24 immunosensor based on directly electroplating an electrode surface with gold nanoparticles using chronoamperometry, which greatly increased the conductivity and reversibility of the electrode. Under optimum conditions, the electrochemical signal showed a linear relationship with the concentration of p24, ranging from 0.01 ng/mL to 100 ng/mL (R > 0.99), and the detection limit was 0.008 ng/mL. Compared with ELISA, this method increased the sensitivity by more than two orders of magnitude (the sensitivity of ELISA for p24 is about 1 ng/mL). This immunosensor may be broadly applied to clinical samples, being distinguished by its ease of use, mild reaction conditions, guaranteed reproducibility, and good anti-interference ability.

Defect in IgV gene somatic hypermutation in common variable immuno-deficiency syndrome.

Science.gov (United States)

Levy, Y; Gupta, N; Le Deist, F; Garcia, C; Fischer, A; Weill, J C; Reynaud, C A

1998-10-27

Common Variable Immuno-Deficiency (CVID) is the most common symptomatic primary antibody-deficiency syndrome, but the basic immunologic defects underlying this syndrome are not well defined. We report here that among eight patients studied (six CVID and two hypogammaglobulinemic patients with recurrent infections), there is in two CVID patients a dramatic reduction in Ig V gene somatic hypermutation with 40-75% of IgG transcripts totally devoid of mutations in the circulating memory B cell compartment. Functional assays of the T cell compartment point to an intrinsic B cell defect in the process of antibody affinity maturation in these two cases.

Testosterone deficiency syndrome: cellular and molecular mechanism of action.

Science.gov (United States)

Carruthers, Malcolm

2013-02-01

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

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

Science.gov (United States)

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

1994-01-01

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

[metabonomics research on coronary heart disease patients of phlegm turbidity syndrome and qi deficiency syndrome].

Science.gov (United States)

Cheng, Peng; Chen, Ze-qi; Wang, Dong-sheng

2015-02-01

To study the correlation between Chinese medical types of coronary heart disease (CHD) [i.e., phlegm turbidity syndrome (PTS) and qi deficiency syndrome (QDS)] and their metabolites. Recruited were 65 CHD patients including 37 cases of PTS and 28 cases of QDS. Serum endogenous metabolites in the two syndrome types were determined by gas chromatograph-mass spectrometer-computer (GC/MS), and their differences between their metabolic profiles analyzed. More than 100 chromatographic peaks were totally scanned. Chromatograms obtained was matched with mass spectrum bank, and finally we got the category contribution value of 46 kinds of substances. Results of MCTree analysis showed patients of PTS and patients of QDS could be effectively distinguished. Compounds contributing to identify the two syndromes were sequenced as serine, valine, 2 hydroxy propionic acid. Comparison of metabolites showed contents of serine and 2 hydroxy propionic acid were higher in patients of PTS than in patients of QDS (Pmetabonomics of CHD TCM syndrome types could provide material bases for TCM syndrome differentiation of CHD, indicating that metabonomics technologies might become a new research method for TCM syndrome typing.

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

Hepatitis B and C Sero-prevalence in Patients with Human Immunodeficiency Virus/Acquired Immune Deficiency Syndrome at a Tertiary Care Hospital in Izmir

Directory of Open Access Journals (Sweden)

Sabri ATALAY

2018-04-01

Full Text Available Objectives: Infections caused by human immunodeficiency virus (HIV, hepatitis B virus (HBV and hepatitis C virus (HCV represent a significant health problem. Co-infection with these viral agents is not uncommon as a result of the similar transmission routes. Our study was planned to investigate the prevalence of HBV and HCV infections in HIV/Acquired Immune Deficiency syndrome (AIDS patients followed up at our institution. Materials and Methods: In this study conducted in the Department of Infectious Diseases and Clinical Microbiology at Izmir Tepecik Training and Research Hospital, medical records of patients followed at the HIV/AIDS outpatient clinic between August 2002 and December 2014 were evaluated. Demographic data, main route of HIV transmission, hepatitis B surface antigen (HBsAg, anti-hepatitis B core (HBc immunoglobulin G (IgG, anti-HBs and anti-HCV results were evaluated. Results: A total of 157 treatment-naïve patients who were followed up at our HIV/AIDS outpatient clinic were included in this study. Four patients (2.6%, had HBsAg positivity. Anti-HBc IgG and anti-HBs positivity were detected in 34% and 28.4% of the patients, respectively. No patients had anti-HCV positivity. Conclusion: The prevalence of HBsAg in HIV-positive individuals was found to be similar to that in other population-based studies in our country. Absence of anti-HCV positivity suggests that hepatitis C infection is not a major health problem in this population.

Lipodystrophy syndrome in HIV-infected children on HAART | Innes ...

African Journals Online (AJOL)

Lipodystrophy syndrome (LD) is common in HIV-infected children, particularly those taking didanosine, stavudine or zidovudine. Lipo-atrophy in particular causes major stigmatisation and interferes with adherence. In addition, LD may have significant long-term health consequences, particularly cardiovascular. Since the ...

Lipodystrophy syndrome among HIV infected children on highly ...

African Journals Online (AJOL)

Background: It is estimated that about 2.5 million people are living with HIV infection in India. Although antiretroviral drugs have been able to reduce the mortality, these drugs have serious side effects one of which is lipodystrophy syndrome. Most of the drugs used in HAART viz, protease inhibitors, stavudine and nevirapine ...

Giardiasis in HIV: A possible role in patients with severe immune deficiency

International Nuclear Information System (INIS)

Angarano, Gioacchino; Maggi, Paolo; Di Bari, Maria Assunta; Larocca, Angela Maria Vittoria; Congedo, Pierpaolo; De Bari, Cesare; Brandonisio, Olga; Chiodo, Francesco

1997-01-01

We report the epidemiological, clinical and therapeutic characteristics of giardiasis in a population of HIV-infected patients with diarrhoic syndrome. During the period between 1988 and 1995, 720 HIV-patients with diarrhoic syndrome were evaluated. Fecal specimens were submitted to parasitological examination according to the Ritchie formalin-ethil acetate centrifugal sedimentation method and stained with iodine. Samples also underwent modified Ziehl-Neelsen staining and standard bacteriologic testing. Cystis of G. intestinalis were identified in stool sample of 25 patients. Two patients were classified as in stage A2 and 23 in C3. Mean CD4 values of patients with giardiasis (26.9 cells/mmc) were compared with those of 65 patients from whom, during the study, was isolated Cryptosporidium parvum (63.12, cells/mmc): the difference resulted highly significant (p < 0.001). Among the patients with full-blown AIDS, giardiasis occurred following a single previous AIDS-defining event in 13 individuals, in seven and in five subjects giardiasis was the 3rd and, respectively, the 4th relevant AIDS-defining condition. Death occurred within the following 2 months in nine patients and within 6, 12 and 24 months in seven, six and two patients, respectively; at present only three AIDS patients are still alive. In general, G. intestinalis in HIV+, is not considered a major cause of enteritis; nevertheless, in our experience enteritis due to G. intestinalis is a frequent event among AIDS patients, especially in the most advanced stage of disease, irrespectively of the risk factor. The increase in mean survival of AIDS patients will probably lead to a progressive emergence of this pathogen which could determine a severe diarroic syndrome with hydroelectrolytic impairments

Quadruple burden of HIV/AIDS, tuberculosis, chronic intestinal parasitoses, and multiple micronutrient deficiency in ethiopia: a summary of available findings.

Science.gov (United States)

Amare, Bemnet; Moges, Beyene; Mulu, Andargachew; Yifru, Sisay; Kassu, Afework

2015-01-01

Human immunodeficiency virus (HIV), tuberculosis (TB), and helminthic infections are among the commonest public health problems in the sub-Saharan African countries like Ethiopia. Multiple micronutrient deficiencies also known as the "hidden hunger" are common in people living in these countries either playing a role in their pathogenesis or as consequences. This results in a vicious cycle of multiple micronutrient deficiencies and infection/disease progression. As infection is profoundly associated with nutritional status resulting from decreased nutrient intake, decreased nutrient absorption, and nutrient losses, micronutrient deficiencies affect immune system and impact infection and diseases progression. As a result, micronutrients, immunity, and infection are interrelated. The goal of this review is therefore to provide a summary of available findings regarding the "quadruple burden trouble" of HIV, TB, intestinal parasitic infections, and multiple micronutrient deficiencies to describe immune-modulating effects related to disorders.

Growth hormone deficiency in treated acromegaly and active Cushing's syndrome.

Science.gov (United States)

Formenti, Anna Maria; Maffezzoni, Filippo; Doga, Mauro; Mazziotti, Gherardo; Giustina, Andrea

2017-02-01

Growth hormone deficiency (GHD) in adults is characterized by reduced quality of life and physical fitness, skeletal fragility, increased weight and cardiovascular risk. It may be found in (over-) treated acromegaly as well as in active Cushing's syndrome. Hypopituitarism may develop in patients after definitive treatment of acromegaly, although the exact prevalence of GHD in this population is still uncertain because of limited awareness, and scarce and conflicting data so far available. Because GHD associated with acromegaly and Cushing's syndrome may yield adverse consequences on similar target systems, the final outcomes of some complications of both acromegaly and Cushing's syndrome may be further affected by the occurrence of GHD. It is still largely unknown, however, whether GHD in patients with post-acromegaly or active Cushing's syndrome (e.g. pharmacologic glucocorticoid treatment) may benefit from GH replacement. We review the diagnostic, clinical and therapeutic aspects of GHD in adults treated for acromegaly and in those with active Cushing's syndrome. Copyright © 2017 Elsevier Ltd. All rights reserved.

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.

Opportunistic infection of HIV/AIDS patients in West Papua

Science.gov (United States)

Witaningrum, A. M.; Khairunisa, S. Q.; Yunifiar, M. Q.; Bramanthi, R.; Rachman, B. E.; Nasronudin

2018-03-01

Human immunodeficiency virus/acquired immune deficiency syndrome (HIV/AIDS) had a major impact on health problemin Indonesia. HIV type 1 (HIV-1) epidemic is currently infected with HIV viruses developing rapidly in Indonesia.Papua provinces have the highest prevalence rate of human immunodeficiency virus type 1 (HIV-1) infection in Indonesia; however, data on opportunistic infection of HIV-1 are limited. The study using medical records as a research sample was conducted among HIV patients from January 2013 - December 2014 in Sele be Solu hospital among 49 patients. Opportunistic infections commonly occur in HIV-infected patients. The aim of the study was to know theprevalence of opportunistic infection among HIV positive patients in West Papua. Forty-nine HIV-1 patients were collected in Sele be Solu Hospital, West Papua.Opportunistic infection was identified such as tuberculosis, tuberculosis Pulmo, tuberculosis and candidiasis, candidiasis and diarrhea. The clinical sign appeared in HIV infected patients such as itchy, cough and loss weight. The prevalence of opportunistic infection indicated the necessity of monitoring the opportunistic infection of HIV/AIDS patients in Indonesia.

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

Directory of Open Access Journals (Sweden)

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.

Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome

NARCIS (Netherlands)

Klift, H.M. van der; Mensenkamp, A.R.; Drost, M.; Bik, E.C.; Vos, Y.J.; Gille, H.J.; Redeker, B.E.; Tiersma, Y.; Zonneveld, J.B.; Garcia, E.G.; Letteboer, T.G.; Olderode-Berends, M.J.; Hest, L.P. van; Os, T.A. van; Verhoef, S.; Wagner, A.; Asperen, C.J. van; Broeke, S.W. ten; Hes, F.J.; Wind, N. de; Nielsen, M.; Devilee, P.; Ligtenberg, M.J.L.; Wijnen, J.T.; Tops, C.M.

2016-01-01

Monoallelic PMS2 germline mutations cause 5%-15% of Lynch syndrome, a midlife cancer predisposition, whereas biallelic PMS2 mutations cause approximately 60% of constitutional mismatch repair deficiency (CMMRD), a rare childhood cancer syndrome. Recently improved DNA- and RNA-based strategies are

Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome

NARCIS (Netherlands)

van der Klift, Heleen M.; Mensenkamp, Arjen R.; Drost, Mark; Bik, Elsa C.; Vos, Yvonne J.; Gille, Hans J. J. P.; Redeker, Bert E. J. W.; Tiersma, Yvonne; Zonneveld, Jose B. M.; Garcia, Encarna Gomez; Letteboer, Tom G. W.; Olderode-Berends, Maran J. W.; van Hest, Liselotte P.; van Os, Theo A.; Verhoef, Senno; Wagner, Anja; van Asperen, Christi J.; ten Broeke, Sanne W.; Hes, Frederik J.; de Wind, Niels; Nielsen, Maartje; Devilee, Peter; Ligtenberg, Marjolijn J. L.; Wijnen, Juul T.; Tops, Carli M. J.

Monoallelic PMS2 germline mutations cause 5%-15% of Lynch syndrome, a midlife cancer predisposition, whereas biallelic PMS2 mutations cause approximately 60% of constitutional mismatch repair deficiency (CMMRD), a rare childhood cancer syndrome. Recently improved DNA- and RNA-based strategies are

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.

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

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

Science.gov (United States)

Buchanan, Daniel D; Rosty, Christophe; Clendenning, Mark; Spurdle, Amanda B; Win, Aung Ko

2014-01-01

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 data from published studies are combined, 59% (95% confidence interval [CI]: 55% to 64%) of colorectal cancers and 52% (95% CI: 41% to 62%) of endometrial cancers with MMR deficiency were identified as suspected Lynch syndrome. Recent studies estimated that colorectal cancer risk for relatives of suspected Lynch syndrome cases is lower than for relatives of those with MMR gene mutations, but higher than for relatives of those with tumor MMR deficiency resulting from methylation of the MLH1 gene promoter. The cause of tumor MMR deficiency in suspected Lynch syndrome cases is likely due to either unidentified germline MMR gene mutations, somatic cell mosaicism, or biallelic somatic

Gitelman syndrome combined with complete growth hormone deficiency

Directory of Open Access Journals (Sweden)

Se Ra Min

2013-03-01

Full Text Available Gitelman syndrome is a rare autosomal recessive hereditary salt-losing tubulopathy, that manifests as hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria. It is caused by mutations in the solute carrier family 12(sodium/chloride transporters, member 3 (SLC12A3 gene encoding the thiazide-sensitive sodium chloride cotransporter channel (NCCT in the distal convoluted tubule of the kidney. It is associated with muscle weakness, cramps, tetany, vomiting, diarrhea, abdominal pain, and growth retardation. The incidence of growth retardation, the exact cause of which is unknown, is lower than that of Bartter syndrome. Herein, we discuss the case of an overweight 12.9-year-old girl of short stature presenting with hypokalemic metabolic alkalosis. The patient, on the basis of detection of a heterozygous mutation in the SLC12A3 gene and poor growth hormone (GH responses in two provocative tests, was diagnosed with Gitelman syndrome combined with complete GH deficiency. GH treatment accompanied by magnesium oxide and potassium replacement was associated with a good clinical response.

Zinc Deficiency-Like Syndrome in Fleckvieh Calves: Clinical and Pathological Findings and Differentiation from Bovine Hereditary Zinc Deficiency.

Science.gov (United States)

Langenmayer, M C; Jung, S; Majzoub-Altweck, M; Trefz, F M; Seifert, C; Knubben-Schweizer, G; Fries, R; Hermanns, W; Gollnick, N S

2018-03-01

Zinc deficiency-like (ZDL) syndrome is an inherited defect of Fleckvieh calves, with striking similarity to bovine hereditary zinc deficiency (BHZD). However, the causative mutation in a phospholipase D4 encoding gene (PLD4) shows no connection to zinc metabolism. To describe clinical signs, laboratory variables, and pathological findings of ZDL syndrome and their utility to differentiate ZDL from BHZD and infectious diseases with similar phenotype. Nine hospitalized calves with crusting dermatitis and confirmed mutation in PLD4 and medical records from 25 calves with crusting dermatitis or suspected zinc deficiency. Prospective and retrospective case series. The 9 calves (age: 5-53 weeks) displayed a moderate to severe crusting dermatitis mainly on the head, ventrum, and joints. Respiratory and digestive tract inflammations were frequently observed. Zinc supplementation did not lead to remission of clinical signs in 4 calves. Laboratory variables revealed slight anemia in 8 calves, hypoalbuminemia in 6 calves, but reduced serum zinc concentrations in only 3 calves. Mucosal erosions/ulcerations were present in 7 calves and thymus atrophy or reduced thymic weights in 8 calves. Histologically, skin lesions were indistinguishable from BHZD. Retrospective analysis of medical records revealed the presence of this phenotype since 1988 and pedigree analysis revealed a common ancestor of several affected calves. ZDL syndrome should be suspected in Fleckvieh calves with crusting dermatitis together with diarrhea or respiratory tract inflammations without response to oral zinc supplementation. Definite diagnosis requires molecular genetic confirmation of the PLD4 mutation. Copyright © 2018 The Authors. Journal of Veterinary Internal Medicine published by Wiley Periodicals, Inc. on behalf of the American College of Veterinary Internal Medicine.

Prevalence and factors associated with metabolic syndrome in an urban population of adults living with HIV in Nairobi, Kenya.

Science.gov (United States)

Kiama, Catherine Nduku; Wamicwe, Joyce Njeri; Oyugi, Elvis Omondi; Obonyo, Mark Odhiambo; Mungai, Jane Githuku; Roka, Zeinab Gura; Mwangi, Ann

2018-01-01

Metabolic syndrome affects 20-25% of the adult population globally. It predisposes to cardiovascular disease and Type 2 diabetes. Studies in other countries suggest a high prevalence of metabolic syndrome among HIV-infected patients but no studies have been reported in Kenya. The objective of this study was to assess the prevalence and factors associated with metabolic syndrome in adult HIV-infected patients in an urban population in Nairobi, Kenya. In a cross-sectional study design, conducted at Riruta Health Centre in 2016, 360 adults infected with HIV were recruited. A structured questionnaire was used to collect data on socio-demography. Blood was collected by finger prick for fasting glucose and venous sampling for lipid profile. Using the harmonized Joint Scientific Statement criteria, metabolic syndrome was present in 19.2%. The prevalence was higher among females than males (20.7% vs. 16.0%). Obesity (AOR = 5.37, P metabolic syndrome while physical activity (AOR = 0.28, P = 0.001) was associated with decreased odds. Metabolic syndrome is prevalent in this study population. Obesity, lack of formal education, family history of hypertension, and physical inactivity are associated with metabolic syndrome. Screening for risk factors, promotion of healthy lifestyle, and nutrition counselling should be offered routinely in HIV care and treatment clinics.

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

Science.gov (United States)

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

2010-06-01

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

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

Science.gov (United States)

2017-06-18

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

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

Glutathione system in Wolfram syndrome 1‑deficient mice.

Science.gov (United States)

Porosk, Rando; Kilk, Kalle; Mahlapuu, Riina; Terasmaa, Anton; Soomets, Ursel

2017-11-01

Wolfram syndrome 1 (WS) is a rare neurodegenerative disease that is caused by mutations in the Wolfram syndrome 1 (WFS1) gene, which encodes the endoplasmic reticulum (ER) glycoprotein wolframin. The pathophysiology of WS is ER stress, which is generally considered to induce oxidative stress. As WS has a well‑defined monogenetic origin and a model for chronic ER stress, the present study aimed to characterize how glutathione (GSH), a major intracellular antioxidant, was related to the disease and its progression. The concentration of GSH and the activities of reduction/oxidation system enzymes GSH peroxidase and GSH reductase were measured in Wfs1‑deficient mice. The GSH content was lower in most of the studied tissues, and the activities of antioxidative enzymes varied between the heart, kidneys and liver tissues. The results indicated that GSH may be needed for ER stress control; however, chronic ER stress from the genetic syndrome eventually depletes the cellular GSH pool and leads to increased oxidative stress.

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...

Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency (CMMRD) Syndrome

NARCIS (Netherlands)

van der Klift, Heleen M; Mensenkamp, Arjen R; Drost, Mark; Bik, Elsa C; Vos, Yvonne J; Gille, Hans J J P; Redeker, Bert E J W; Tiersma, Yvonne; Zonneveld, José B M; García, Encarna Gómez; Letteboer, Tom G W; Olderode-Berends, Maran J W; van Hest, Liselotte P; van Os, Theo A; Verhoef, Senno; Wagner, Anja; van Asperen, Christi J; Ten Broeke, Sanne W; Hes, Frederik J; de Wind, Niels; Nielsen, Maartje; Devilee, Peter; Ligtenberg, Marjolijn J L; Wijnen, Juul T; Tops, Carli M J

2016-01-01

Monoallelic PMS2 germline mutations cause 5-15% of Lynch syndrome, a midlife cancer predisposition, whereas biallelic PMS2 mutations cause approximately 60% of constitutional MMR deficiency (CMMRD), a rare childhood cancer syndrome. Recently improved DNA and RNA-based strategies are applied to

HIV-associated TB syndemic: A growing clinical challenge worldwide

Directory of Open Access Journals (Sweden)

Maria Theresa Montales

2015-12-01

Full Text Available The association of tuberculosis (TB with human immunodeficiency virus (HIV infection and acquired immune deficiency syndrome (AIDS over the past several years has become an emerging syndemic. Approximately 10% of people living with HIV (PLHIV with latent TB infection will develop active TB disease each year. In this review, we highlight that this phenomenon is not limited to high endemic regions like Afro-Asian nations, but globalization/migration is causing increased case detection even in developed nations such as the United States (US. Active screening should be performed for tuberculosis in PLHIV. A high degree of clinical suspicion for tuberculosis is warranted in PLHIV presenting with fever, cough and unintentional weight loss. HIV-Mycobacterium tuberculosis (MTB coinfection is often paucibacillary, precluding diagnosis by conventional diagnostics and/or smear-microscopy/culture. Improved detection of pulmonary and extrapulmonary tuberculosis is now possible by incorporation of the GeneXPERT MTB/RIF assay (Cepheid Inc, Sunnyvale, USA. The World Health Organization (WHO recommends instituting immediate therapy for Mycobacterium tuberculosis, in conjunction with ongoing or newly introduced antiretroviral therapy (ART. Vigilance is required to detect drug-induced organ injuries, and early-treatment induced immune reconstitution inflammatory syndrome (IRIS. Collaborating MTB and HIV activities in concentrated HIV epidemic settings should become a high public health priority.

Isotope techniques in studies of selenium deficiency and toxicity syndromes in farm animals

International Nuclear Information System (INIS)

Giese, W.W.

1984-01-01

In a brief review of the Se deficiency syndrome in ruminants, studies using non-isotopic methods are applied to an introductory description of the disease. They include methods currently applied for determining Se deficiency status in feed and in ruminant animals. Detection of potential white muscle disease in lambs and calves is discussed. The application of 75 Se in studies on absorption, tissue distribution and excretion under feeding regimes with different Se levels and partly with addition of SO 4 ions or vitamin E is reviewed. In vitro studies with 75 Se include a description of the 75 Se uptake test with red blood cells, the metabolism of selenite, selenate and selenomethionine in rumen microorganisms, and the distribution of 75 Se in cow's and goat's milk. Methods of Se supplementation in Se-deficient areas are summarized and tests with 75 Se-labelled ruminal pellets in sheep and cattle are described. The Se toxicity syndrome is surveyed with respect to causative agents, symptomatology and gross pathology. Special reference is made to the blind staggers and the alkali disease types of selenosis. Isotope techniques are found to be less frequently applied in studies on Se toxicity than in Se deficiency studies. (author)

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.

Acquired Long QT Syndrome and Torsade de Pointes Associated with HIV Infection

Directory of Open Access Journals (Sweden)

Alexander Shimabukuro-Vornhagen

2010-01-01

Full Text Available Here, we report the case of an HIV infected patient that was treated for pneumonia with a macrolid antibiotic. The patient experienced a prolongation of the already pathologic QTc interval resulting in repeated torsades de pointes necessitating CPR and implantation of an AICD. This case exemplifies that torsades de pointes due to acquired long QT syndrome is a serious and potentially fatal complication in HIV-positive patients.

HIV-positive patient with herpes zoster: a manifestation of the immune reconstitution inflammatory syndrome.

Science.gov (United States)

Lutwak, Nancy; Dill, Curt

2012-01-01

Herpes zoster is a common illness that can lead to serious morbidity. There is now evidence that HIV-infected patients who have been treated with antiretroviral therapy are at greater risk of developing herpes zoster not when they are severely immunocompromised but, paradoxically, when their immune system is recovering. This is a manifestation of the immune reconstitution inflammatory syndrome. The objectives of this report are to (1) inform health care providers that HIV-infected patients may develop multiple infectious, autoimmune, and oncological manifestations after treatment with antiretroviral medication, as they have immune system reconstitution, and (2) discuss herpes zoster, one of the possible manifestations. The patient is a 68-year-old HIV-positive man who presented with herpes zoster after being treated with highly active antiretroviral therapy (HAART) when his immune system was recovering, not when he was most immunosuppressed. Emergency department physicians should be aware that HIV-infected patients treated with HAART may have clinical deterioration despite immune system strengthening. This immune reconstitution inflammatory syndrome can present with infectious, autoimmune, or oncological manifestations. Our case patient, an HIV-positive man with immune system recovery after treatment with HAART, presented with an infectious manifestation, herpes zoster.

Effect of a monthly dose of calcidiol in improving vitamin D deficiency and secondary hyperparathyroidism in HIV-infected patients.

Science.gov (United States)

Bañón, Sara; Rosillo, Marta; Gómez, Ana; Pérez-Elias, María J; Moreno, Santiago; Casado, José Luis

2015-06-01

There are no data about the optimal supplementation therapy in HIV-infected patients with vitamin D (25OHD) deficiency. The aim of this study was to assess the effect of an oral monthly dose of 16,000 IU calcidiol. We performed a longitudinal cohort study of 365 HIV-infected patients (24 % females) was with sequential determinations of 25OHD, serum parathyroid hormone (PTH), calcium, and alkaline phosphatase. The efficacy and safety of supplementation in 123 patients were compared against dietary and sun exposure advice. Overall, mean baseline 25OHD levels were 19.1 ng/ml (IQR 12-23.6), 63 % of patients had 25OHD deficiency and 27 % secondary hyperparathyroidism. After a median time of 9.3 months (95.61 patients-year on-treatment), 25OHD levels increased in comparison with non-supplemented patients (+16.4 vs. +3.2 ng/ml; p secondary hyperparathyroidism (from 43 to 31 %; p secondary hyperparathyroidism in HIV-infected patients.

HIV/AIDS Infected Mothers' Experience of a Group Intervention to Enhance Their Children's Behavior

Science.gov (United States)

Eloff, Irma; Finestone, Michelle; Forsyth, Brian

2016-01-01

A secondary study was conducted within a broader National Institutes of Health (NIH)-funded longitudinal study on resilience in South African mothers and children affected by HIV/AIDS (Human Immunodeficiency Virus/Acquired Immune Deficiency Syndrome). The aim of this study was to evaluate the effect of a 24-week support group intervention…

Severe mental deficiency, proportionate dwarfism, and delayed sexual maturation. A distinct inherited syndrome.

Science.gov (United States)

Cantú, J M; Sánchez-Corona, J; García-Cruz, D; Fragoso, R

1980-01-01

Two 46,XY brothers were found to have a previously undescribed syndrome characterized by severe mental deficiency, proportionate dwarfism, and delayed sexual development. A recessive mode of inheritance, either autosomal or X-linked, is assumed.

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

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Blum, Werner F; Ross, Judith L; Zimmermann, Alan G; Quigley, Charmian A; Child, Christopher J; Kalifa, Gabriel; Deal, Cheri; Drop, Stenvert L S; Rappold, Gudrun; Cutler, Gordon B

2013-08-01

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 in patients with SHOX deficiency. Our objectives were to evaluate long-term efficacy of GH treatment in short patients with SHOX deficiency and to compare the effect on final (adult) height (FH) in patients with SHOX deficiency and Turner syndrome. A prospective, multinational, open-label, randomized 3-arm study consisting of a 2-year control period and a subsequent extension period to FH. The treatment groups were 1) SHOX-D-C/GH (untreated during the control period, GH-treated during the extension), 2) SHOX-D-GH/GH, and 3) Turner-GH/GH (GH-treated during both study periods). Short-statured prepubertal patients with genetically confirmed SHOX deficiency (n = 49) or Turner syndrome (n = 24) who participated in the extension. Depending on the study arm, patients received a daily sc injection of 0.05 mg/kg recombinant human GH from start of the study or start of the extension until attainment of FH or study closure. Height SD score gain from start of GH treatment to FH was similar between the combined SHOX-deficient groups (n = 28, 1.34 ± 0.18 [least-squares mean ± SE]) and the Turner group (n = 19, 1.32 ± 0.22). In this FH population, 57% of the patients with SHOX deficiency and 32% of the patients with Turner syndrome achieved a FH greater than -2 SD score. GH treatment in short children with SHOX deficiency showed similar long-term efficacy as seen in girls with Turner syndrome.

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.

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

2016-09-01

A case with GAMT deficiency (homozygous c.64dupG mutation) presented with neurodevelopmental delay, rare seizures, behavioral disturbances, and mild hypotonia, posing diagnostic challenges. Metabolic investigations showed low creatinine in plasma and urine (guanidinoacetate couldn't be investigated) and slightly elevated lactate. MRI was normal. Correct diagnosis was possible only after MR spectroscopy was performed at age 5½ years. A homozygous c.64dupG mutation of the GAMT gene was identified in the proband. In conclusion, every case with neurodevelopmental delay or arrest, especially when accompanied by seizures, behavioral impairment, muscle hypotonia or extrapyramidal symptoms should undergo MRI with MR spectroscopy. Normal structural MRI doesn't exclude a creatine deficiency syndrome. Biochemical investigations of guanidinoacetate, creatine, and creatinine in body fluid should be done to diagnose cerebral creatine deficiency syndromes and to specify the deficient enzyme. Thus, a treatable disease will not be missed. © 2016 by the Association of Clinical Scientists, Inc.

Rhabdomyosarcoma in patients with constitutional mismatch-repair-deficiency syndrome.

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Kratz, C P; Holter, S; Etzler, J; Lauten, M; Pollett, A; Niemeyer, C M; Gallinger, S; Wimmer, K

2009-06-01

Biallelic germline mutations in the mismatch repair genes MLH1, MSH2, MSH6 or PMS2 cause a recessive childhood cancer syndrome characterised by early-onset malignancies and signs reminiscent of neurofibromatosis type 1 (NF1). Alluding to the underlying genetic defect, we refer to this syndrome as constitutional mismatch repair-deficiency (CMMR-D) syndrome. The tumour spectrum of CMMR-D syndrome includes haematological neoplasias, brain tumours and Lynch syndrome-associated tumours. Other tumours, such as neuroblastoma, Wilm tumour, ovarian neuroectodermal tumour or infantile myofibromatosis, have so far been found only in individual cases. We analysed two consanguineous families that had members with suspected CMMR-D syndrome who developed rhabdomyosarcoma among other neoplasias. In the first family, we identified a pathogenic PMS2 mutation for which the affected patient was homozygous. In family 2, immunohistochemistry analysis showed isolated loss of PMS2 expression in all tumours in the affected patients, including rhabdomyosarcoma itself and the surrounding normal tissue. Together with the family history and microsatellite instability observed in one tumour this strongly suggests an underlying PMS2 alteration in family 2 also. Together, these two new cases show that rhabdomyosarcoma and possibly other embryonic tumours, such as neuroblastoma and Wilm tumour, belong to the tumour spectrum of CMMR-D syndrome. Given the clinical overlap of CMMR-D syndrome with NF1, we suggest careful examination of the family history in patients with embryonic tumours and signs of NF1 as well as analysis of the tumours for loss of one of the mismatch repair genes and microsatellite instability. Subsequent mutation analysis will lead to a definitive diagnosis of the underlying disorder.

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

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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

Immunotherapy holds the key to cancer treatment and prevention in constitutional mismatch repair deficiency (CMMRD) syndrome

NARCIS (Netherlands)

Westdorp, Harm; Kolders, Sigrid; Hoogerbrugge, Nicoline; de Vries, I Jolanda M; Jongmans, Marjolijn C.J.; Schreibelt, Gerty

2017-01-01

Monoallelic germline mutations in one of the DNA mismatch repair (MMR) genes cause Lynch syndrome, with a high lifetime risks of colorectal and endometrial cancer at adult age. Less well known, is the constitutional mismatch repair deficiency (CMMRD) syndrome caused by biallelic germline mutations

A case presenting concurrence of Marfan syndrome, Basedow's disease and Arg353Gln polymorphism-related factor VII deficiency.

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Tanaka, Kotoko; Seino, Yoshihiko; Inokuchi, Koiti; Ohmura, Kazuko; Kobayashi, Yoshinori; Takano, Teruo

2005-02-15

We report the case of a 48-year-old Japanese man who suffered from Marfan syndrome with severe aortic regurgitation, mitral regurgitation and rapid atrial fibrillation, which were aggravated by hyperdynamic circulatory conditions associated with coexistent Basedow's disease. Furthermore, concurrence of Arg353Gln polymorphism-related factor VII deficiency was discovered at the preoperative assessments. Both of his two brothers suffered from Marfan syndrome; however they had no findings of Arg353Glu polymorphism-related factor VII deficiency or Basedow's disease. After normalization of thyroid function, he had successfully the operations of Bentall procedure: a composite prosthetic graft: replacement of both the ascending aorta and aortic valve, and mitral valve annuloplasty. No specific therapy such as fresh frozen plasma or factor VII replacement therapy was required. He completely returned to his business work 6 weeks after the operation. Concurrence of Marfan syndrome and factor VII deficiency induced by two-hit genomic abnormalities and furthermore Basedow's disease, which significantly compromised the pathophysiological condition of Marfan syndrome, is extremely rare.

Current Peptide and Protein Candidates Challenging HIV Therapy beyond the Vaccine Era

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Koollawat Chupradit

2017-09-01

Full Text Available Human immunodeficiency virus (HIV is a causative agent of acquired immune deficiency syndrome (AIDS. Highly active antiretroviral therapy (HAART can slow down the replication of HIV-1, leading to an improvement in the survival of HIV-1-infected patients. However, drug toxicities and poor drug administration has led to the emergence of a drug-resistant strain. HIV-1 immunotherapy has been continuously developed, but antibody therapy and HIV vaccines take time to improve its efficiency and have limitations. HIV-1-specific chimeric antigen receptor (CAR-based immunotherapy founded on neutralizing antibodies is now being developed. In HIV-1 therapy, anti-HIV chimeric antigen receptors showed promising data in the suppression of HIV-1 replication; however, autologous transfusion is still a problem. This has led to the development of effective peptides and proteins for an alternative HIV-1 treatment. In this paper, we provide a comprehensive review of potent anti-HIV-1 peptides and proteins that reveal promising therapeutic activities. The inhibitory mechanisms of each therapeutic molecule in the different stages of the HIV-1 life cycle will be discussed herein.

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.

High prevalence of severe vitamin D deficiency in combined antiretroviral therapy-naive and successfully treated Swiss HIV patients.

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Mueller, Nicolas J; Fux, Christoph A; Ledergerber, Bruno; Elzi, Luigia; Schmid, Patrick; Dang, Thanh; Magenta, Lorenzo; Calmy, Alexandra; Vergopoulos, Athanasios; Bischoff-Ferrari, Heike A

2010-05-15

To evaluate the prevalence of 25-hydroxyvitamin D [25(OH)D] deficiency in HIV-positive patients, a population at risk for osteoporosis. Retrospective assessment of vitamin D levels by season and initiation of combined antiretroviral therapy (cART). 25(OH)D was measured in 211 HIV-positive patients: samples were taken before initiation of cART from February to April or from August to October as well as 12 (same season) and 18 months (alternate season) after starting cART. 1,25-Dihydroxyvitamin D [1,25(OH)2D] was measured in a subset of 74 patients. Multivariable analyses included season, sex, age, ethnicity, BMI, intravenous drug use (IDU), renal function, time since HIV diagnosis, previous AIDS, CD4 cell count and cART, in particular nonnucleoside reverse transcriptase inhibitor (NNRTI) and tenofovir (TDF) use. At baseline, median 25(OH)D levels were 37 (interquartile range 20-49) nmol/l in spring and 57 (39-74) nmol/l in the fall; 25(OH)D deficiency less than 30 nmol/l was more prevalent in spring (42%) than in fall (14%), but remained unchanged regardless of cART exposure. In multivariable analysis, 25(OH)D levels were higher in white patients and those with a longer time since HIV diagnosis and lower in springtime measurements and in those with active IDU and NNRTI use. 1-Hydroxylation rates were significantly higher in patients with low 25(OH)D. Hepatitis C seropositivity, previous AIDS and higher CD4 cell counts correlated with lower 1,25(OH)2D levels, whereas BMI and TDF use were associated with higher levels. In TDF-treated patients, higher 1,25(OH)2D correlated with increases in serum alkaline phosphatase. Based on the high rate of vitamin D deficiency in HIV-positive patients, systematic screening with consideration of seasonality is warranted. The impact of NNRTIs on 25(OH)D and TDF on 1,25(OH)2D needs further attention.

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

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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.

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...... or leukemias, and brain tumors. There is no satisfactory method for diagnosis of CMMRD because screens for mutations in MMR genes are noninformative for 30% of patients. MMR-deficient cancer cells are resistant to genotoxic agents and have microsatellite instability (MSI), due to accumulation of errors...

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.

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

2016-01-01

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). To assess knowledge, attitude, and perceptions of persons living with HIV/AIDS for the disease and other epidemiological aspects. One-hundred and fifty consecutive persons living with HIV/AIDS were enrolled for this questionnaire-based cross-sectional, descriptive study. 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. 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.

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

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

2016-03-05

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

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

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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.

[Retrospective analysis of risk factors in 900 patients with ischemic cerebral stroke of wind-phlegm collateral obstruction syndrome and qi deficiency blood stasis syndrome in Wuhan District].

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Qiu, Xin; Wang, Kai-xin; Chen, Guo-hua

2011-11-01

To analyze the correlation between risk factors and ischemic cerebral stroke of wind-phlegm collateral obstruction syndrome and qi deficiency blood stasis syndrome. Totally 900 patients of the two syndrome types were recruited. Risk factors correlated to ischemic cerebral stroke such as gender, age, time of onset, site of infarction, tongue proper, tongue fur, pulse picture, hypertension, diabetes, past stroke history, hyperlipidemia, hematocrit, smoking, drinking, genetic factor, blood type, complications were analyzed using Chi-square test and non-conditional Logistic regression analysis. Statistical significance existed between the two syndrome types in age (X2 = 8.2392, P = 0.0413), hyperlipidemia (X2 = 4.8386, P = 0.0278), tongue proper (X2 = 7.9470, P = 0.0048), and tongue fur (X2 = 4.3298, P = 0.0375). Statistical significance existed between the two syndrome types in hyperlipidemia, tongue proper, and tongue fur, and their OR value was 0.699 (P = 0.0282), 0.332 (P =0.0071), and 0.667 (P = 0.0382) respectively. The OR value of the past stroke history was 3.226 (P = 0.0314), that of complications 0.203 (P = 0.0705), and that of anterior circulation infarction 0.214 (P = 0.0098). Among different ages groups, the constituent ratio of qi deficiency blood stasis syndrome was obviously higher than that of wind-phlegm collateral obstruction syndrome. Besides, patients of qi deficiency blood stasis syndrome were liable to suffer from hyperlipidemia, anterior circulation infarction, and complications. The age, blood lipid levels, site of infarction, complications are closely correlated with Chinese syndrome types of ischemic cerebral stroke, which can provide objective indices for typing ischemic cerebral stroke.

Role of Monocyte/Macrophages during HIV/SIV Infection in Adult and Pediatric Acquired Immune Deficiency Syndrome

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Kristen M. Merino

2017-12-01

Full Text Available Monocytes/macrophages are a diverse group of cells that act as first responders in innate immunity and then as mediators for adaptive immunity to help clear infections. In performing these functions, however, the macrophage inflammatory responses can also contribute to pathogenesis. Various monocyte and tissue macrophage subsets have been associated with inflammatory disorders and tissue pathogeneses such as occur during HIV infection. Non-human primate research of simian immunodeficiency virus (SIV has been invaluable in better understanding the pathogenesis of HIV infection. The question of HIV/SIV-infected macrophages serving as a viral reservoir has become significant for achieving a cure. In the rhesus macaque model, SIV-infected macrophages have been shown to promote pathogenesis in several tissues resulting in cardiovascular, metabolic, and neurological diseases. Results from human studies illustrated that alveolar macrophages could be an important HIV reservoir and humanized myeloid-only mice supported productive HIV infection and viral persistence in macrophages during ART treatment. Depletion of CD4+ T cells is considered the primary cause for terminal progression, but it was reported that increasing monocyte turnover was a significantly better predictor in SIV-infected adult macaques. Notably, pediatric cases of HIV/SIV exhibit faster and more severe disease progression than adults, yet neonates have fewer target T cells and generally lack the hallmark CD4+ T cell depletion typical of adult infections. Current data show that the baseline blood monocyte turnover rate was significantly higher in neonatal macaques compared to adults and this remained high with disease progression. In this review, we discuss recent data exploring the contribution of monocytes and macrophages to HIV/SIV infection and progression. Furthermore, we highlight the need to further investigate their role in pediatric cases of infection.

Refeeding syndrome in a young woman with argininosuccinate lyase deficiency.

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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.

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

DEFF Research Database (Denmark)

Hansen, B R; 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...

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

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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

An assessment of the knowledge, attitudes, and risk perceptions of pharmacy students regarding HIV/AIDS.

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Ahmed, Syed Imran; Hassali, Mohamed Azmi; Aziz, Noorizan Abdul

2009-02-19

To evaluate the level of knowledge, attitudes, and risk perceptions of University Sains Malaysia final-year pharmacy students regarding human immunodeficiency virus (HIV) and acquired immunity deficiency syndrome (AIDS). A cross-sectional study among pharmacy students. Data were analyzed with Chi-square to find difference at p value AIDS patients. Students recommended HIV testing for health care professionals (69.4%) and patients (75.9%) before surgical procedures. Students knew little about Post Exposure Prophylaxis (18.5%) or about the time for HIV to develop into AIDS (57.4%). About 40% of students were unaware of the inability of antivirals to treat HIV/AIDS. Students had low awareness for opportunistic infections (18.5%), and low agreement on competency to treat and counsel HIV patients (12.9%). The study highlighted students' misconceptions, negative attitudes, and risk perceptions towards HIV/AIDS.

Ritonavir and Topical Ocular Corticosteroid Induced Cushing's Syndrome in an Adolescent With HIV-1 Infection.

Science.gov (United States)

Rainsbury, Paul G; Sharp, Jessica; Tappin, Alison; Hussey, Martin; Lenko, Alexandra; Foster, Caroline

2017-05-01

Cushing's syndrome after topical ocular corticosteroid use is extremely rare. We describe a case of symptomatic Cushing's syndrome in an adolescent male with sight-threatening vernal keratoconjunctivitis on antiretroviral therapy for HIV-1 infection that included ritonavir, a potent cytochrome p450 CYP3A4 inhibitor. CYP3A4 inhibition reduces the metabolism of exogenous corticosteroids leading to suppression of endogenous steroid production and Cushing's syndrome.

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

Science.gov (United States)

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

2015-04-01

Previous studies have suggested an association between MS and vitamin D deficiency, but data are not conclusive. This study was intended to find out if metabolic syndrome, according to the 2009 IDF/AHA/NHLBI, is associated to the presence of vitamin D deficiency. A cross-sectional study was conducted on a sample of 326 subjects aged 18 years or older, recruited from a health center in Alcalá de Henares. Participants underwent an interview and a standardized clinical examination. In a second visit, blood tests were performed in 255 subjects to quantify serum levels of 25-hydroxyvitamin D (25 OH-VitD) and different laboratory parameters associated to MS. The association between vitamin D deficiency and metabolic syndrome (and each of its components) was examined. In the study population, MS prevalence was 36.1% and prevalence of vitamin D deficiency (25 OH-Vit D1.62 (95% CI: 1.13-2.31). Adjustment for age, sex, and body mass index did not change such association. There is a significant association between vitamin D deficiency and MS. Both conditions are highly prevalent in our population. Copyright © 2014 SEEN. Published by Elsevier España, S.L.U. All rights reserved.

A model for HIV/AIDS pandemic with optimal control

Science.gov (United States)

Sule, Amiru; Abdullah, Farah Aini

2015-05-01

Human immunodeficiency virus and acquired immune deficiency syndrome (HIV/AIDS) is pandemic. It has affected nearly 60 million people since the detection of the disease in 1981 to date. In this paper basic deterministic HIV/AIDS model with mass action incidence function are developed. Stability analysis is carried out. And the disease free equilibrium of the basic model was found to be locally asymptotically stable whenever the threshold parameter (RO) value is less than one, and unstable otherwise. The model is extended by introducing two optimal control strategies namely, CD4 counts and treatment for the infective using optimal control theory. Numerical simulation was carried out in order to illustrate the analytic results.

A patient with Bartter syndrome accompanying severe growth hormone deficiency and focal segmental glomerulosclerosis.

Science.gov (United States)

Akil, Ipek; Ozen, Serkan; Kandiloglu, Ali Riza; Ersoy, Betul

2010-06-01

Bartter syndrome is a rare autosomal recessive, salt-losing disorder characterized by hypokalemic hypochloremic metabolic alkalosis. A 10-year-old boy had severe growth retardation (height standard deviation score -8.15). He had a thin, triangular face, prominent ears and forehead, and big eyes. Megacystis, bilateral hydroureteronephrosis, and residual urine were detected in ultrasonography, but there was no vesicoureteral reflux. Lumbosacral magnetic resonance (MR) showed posterior disc bulging at L4-5. Serum sodium and chloride levels were normal, but mild hypokalemia was overlooked initially. During follow-up, hypokalemic hypochloremic metabolic alkalosis developed, with high urinary chloride and potassium excretion (52 and 43 mEq/L, respectively). The patient, with renal salt loss, was thought to have classic Bartter syndrome due to absence of nephrocalcinosis, presence of persistent hypercalciuria and sensorineural deafness, and presence of relatively mild clinical and laboratory findings, except polyuria initially. The child was treated with indomethacin, spironolactone, and oral potassium in addition to growth hormone (GH). During treatment, he had considerable increase in weight and height compared with the period of GH therapy only. We present this case because, although growth retardation is a major feature of Bartter syndrome, associated GH deficiency is rarely reported in the literature. Diagnosis of Bartter syndrome was made later, as our patient was followed for megacystis and megaureter secondary to the neurogenic bladder and GH deficiency initially; and proteinuria associated with focal segmental glomerulosclerosis responded to treatment for Bartter syndrome.

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.

High Mortality and Coinfection in a Prospective Cohort of Human Immunodeficiency Virus/Acquired Immune Deficiency Syndrome Patients with Histoplasmosis in Guatemala.

Science.gov (United States)

Samayoa, Blanca; Roy, Monika; Cleveland, Angela Ahlquist; Medina, Narda; Lau-Bonilla, Dalia; Scheel, Christina M; Gomez, Beatriz L; Chiller, Tom; Arathoon, Eduardo

2017-07-01

Histoplasmosis is one of the most common and deadly opportunistic infections among persons living with human immunodeficiency virus (HIV)/acquired immune deficiency syndrome in Latin America, but due to limited diagnostic capacity in this region, few data on the burden and clinical characteristics of this disease exist. Between 2005 and 2009, we enrolled patients ≥ 18 years of age with suspected histoplasmosis at a hospital-based HIV clinic in Guatemala City. A case of suspected histoplasmosis was defined as a person presenting with at least three of five clinical or radiologic criteria. A confirmed case of histoplasmosis was defined as a person with a positive culture or urine antigen test for Histoplasma capsulatum . Demographic and clinical data were also collected and analyzed. Of 263 enrolled as suspected cases of histoplasmosis, 101 (38.4%) were confirmed cases. Median time to diagnosis was 15 days after presentation (interquartile range [IQR] = 5-23). Crude overall mortality was 43.6%; median survival time was 19 days (IQR = 4-69). Mycobacterial infection was diagnosed in 70 (26.6%) cases; 26 (25.7%) histoplasmosis cases were coinfected with mycobacteria. High mortality and short survival time after initial symptoms were observed in patients with histoplasmosis. Mycobacterial coinfection diagnoses were frequent, highlighting the importance of pursuing diagnoses for both diseases.

HIV-associated Lipodystrophy Syndrome: A Review of Clinical Aspects

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Jean-Guy Baril

2005-01-01

Full Text Available Approximately two years after the introduction of highly active antiretroviral therapy for the treatment of HIV infection, body shape changes and metabolic abnormalities were increasingly observed. Initially, these were ascribed to protease inhibitors, but it is now clear that nucleoside reverse transcriptase inhibitors also contribute to lipodystrophy syndrome. The syndrome groups together clinical conditions describing changes in body fat distribution that include lipoatrophy, lipoaccumulation or both. However, there does not appear to be a direct link between lipoatrophy and lipoaccumulation that would support a single mechanism for the redistribution of body fat. Currently, there is no clear definition of lipodystrophy, which explains the difficulty in determining its prevalence and etiology. There are no current guidelines for the treatment of fat distribution abnormalities that occur in the absence of other metabolic complications. The present article reviews the current state of knowledge of the definition, symptoms, risk factors, pathogenesis, diagnosis and treatment of the morphological changes associated with lipodystrophy syndrome.

HIV-associated lipodystrophy syndrome: A review of clinical aspects

Science.gov (United States)

Baril, Jean-Guy; Junod, Patrice; LeBlanc, Roger; Dion, Harold; Therrien, Rachel; Laplante, François; Falutz, Julian; Côté, Pierre; Hébert, Marie-Nicole; Lalonde, Richard; Lapointe, Normand; Lévesque, Dominic; Pinault, Lyse; Rouleau, Danielle; Tremblay, Cécile; Trottier, Benoît; Trottier, Sylvie; Tsoukas, Chris; Weiss, Karl

2005-01-01

Approximately two years after the introduction of highly active antiretroviral therapy for the treatment of HIV infection, body shape changes and metabolic abnormalities were increasingly observed. Initially, these were ascribed to protease inhibitors, but it is now clear that nucleoside reverse transcriptase inhibitors also contribute to lipodystrophy syndrome. The syndrome groups together clinical conditions describing changes in body fat distribution that include lipoatrophy, lipoaccumulation or both. However, there does not appear to be a direct link between lipoatrophy and lipoaccumulation that would support a single mechanism for the redistribution of body fat. Currently, there is no clear definition of lipodystrophy, which explains the difficulty in determining its prevalence and etiology. There are no current guidelines for the treatment of fat distribution abnormalities that occur in the absence of other metabolic complications. The present article reviews the current state of knowledge of the definition, symptoms, risk factors, pathogenesis, diagnosis and treatment of the morphological changes associated with lipodystrophy syndrome. PMID:18159551

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

2012-12-01

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.

[Study on the relation between Pi-deficiency pattern and metabolic syndrome in patients with polycystic ovarian syndrome].

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Wang, Xing-Juan; Jin, Hua-Liang; Liu, Ying

2010-11-01

To evaluate the relation between Pi-deficiency syndrome (PDS) pattern and metabolic syndrome (MS) in patients with polycystic ovarian syndrome (PCOS), for exploring their internal pathologic mechanism. Among the 102 PCOS patients, 22 complicated with MS (PCOS-MS) and 80 not complicated with MS (PCOS-NMS), the Chinese medicine syndrome pattern was differentiated as PDS in 50 patients and non-PDS in 52. The clinical data, in terms of fasting blood glucose (FBG), fasting insulin (FINS), waistline, body weight (BW), stature, blood pressure (BP), etc. was collected and compared and the relation between data was analyzed. Levels of FINS and homeostasis model of assessment for insulin resistence index (HOMA-IR), in PCOS-MS patients were significantly higher than those in PCOS-NMS patients, also higher in patients of PDS pattern than those of non-PDS pattern (P 0.05). PCOS patients of PDS pattern are the high-risk population of MS, which might be related with the insulin resistance. So, early treatment of PCOS, especially on patients of PDS pattern, is of important significance for preventing the complication, as MS, of the disease.

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

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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.

Metabolic Syndromes Associated with HIV: Mitigating the Side Effects of Drug Therapy.

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Stringer, William W.; Sattler, Fred R.

2001-01-01

HIV infection and highly active antiretroviral therapy (HAART) are associated with such metabolic disorders as AIDS wasting syndrome, metabolic dysregulation, and abnormalities of serum lipids. Adjunctive therapies (e.g., diet and antilipid therapy); risk factor modification (e.g., smoking cessation and blood pressure control); aerobic exercise;…

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

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Thomas, Stephen B.; Quinn, Sandra Crouse

1991-01-01

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

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...... databases. The methods used here include machine-learning algorithms (e.g. support vector machine, random forest and kappa nearest neighbor), shape similarity (rapid overlay of chemical structures), pharmacophore, molecular interaction fields-based fingerprints for ligands and protein (FLAP) and flexible...... for identifying structurally diverse and selective RNase H inhibitors from large chemical databases. In addition, pharmacophore models suggest that the inter-distance between hydrogen bond acceptors play a key role in inhibition of the RNase H domain through metal chelation....

Constitutional mismatch repair-deficiency syndrome presenting as colonic adenomatous polyposis: clues from the skin.

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Jasperson, K W; Samowitz, W S; Burt, R W

2011-10-01

Constitutional mismatch repair-deficiency (CMMR-D) syndrome is an autosomal recessive condition characterized by hematologic malignancies, brain tumors, Lynch syndrome-associated cancers and skin manifestations reminiscent of neurofibromatosis type 1 (NF1). In contrast to Lynch syndrome, CMMR-D syndrome is exceptionally rare, onset typically occurs in infancy or early childhood and, as described in this report, may also present with colonic polyposis suggestive of attenuated familial adenomatous polyposis (AFAP) or MUTYH associated polyposis (MAP). Here we describe two sisters with CMMR-D syndrome due to germline bi-allelic MSH6 mutations. Both sisters are without cancer, are older than typical for this condition, have NF1 associated features and a colonic phenotype suspicious for an attenuated polyposis syndrome. This report highlights the role of skin examinations in leading to an underlying genetic diagnosis in individuals with colonic adenomatous polyposis, but without mutations associated with AFAP or MAP. © 2010 John Wiley & Sons A/S.

ANALYSIS OF HIV SUBTYPES AND CLINICAL STAGING OF HIV DISEASE/AIDS IN EAST JAVA

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Yulia Ismail

2012-04-01

Full Text Available Human Immunodeficiency Virus type 1 (HIV-1 known to cause Acquired Immune Deficiency Syndrome (AIDS disease are divided into several subtypes (A, B, C, D, F, G, H, J, K and Circulating Recombinant Form (CRF. Different characteristics of subtype of the virus and its interaction with the host can affect the severity of the disease. This study was to analyze HIV-1 subtypes circulating in HIV/AIDS patients from the East Java region descriptively and to analyze its relationship with clinical stadiums of HIV/AIDS. Information from this research was expected to complement the data of mocular epidemiology of HIV in Indonesia. This study utilited blood plasma from patients who had been tested to be HIV positive who sected treatment to or were reffered to the Intermediate Care Unit of Infectious Disease (UPIPI Dr. Soetomo Hospital Surabaya from various area representing the East Java regions. Plasma was separated from blood samples by centrifugation for use in the the molecular biology examination including RNA extraction, nested PCR using specific primer for HIV gp120 env gene region, DNA purifying, DNA sequencing, and homology and phylogenetic analysis. Based on the nucleotide sequence of the HIV gp120 env gene, it was found that the most dominant subtypes in East Java were in one group of Circulating Recombinant Form (CRF that is CRF01_AE, CRF33_01B and CRF34_01B which was also found in Southeast Asia. In the phylogenetic tree, most of HIV samples (30 samples are in the same branch with CRF01_AE, CRF33_01B and CRF34_01B, except for one sample (HIV40 which is in the same branch with subtype B. HIV subtypes are associated with clinical stadiums (disease severity since samples from different stages of HIV disease have the same subtype.

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

Science.gov (United States)

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

2015-12-23

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

Determinan Perilaku Tes HIV pada Ibu Hamil

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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.

A novel CLCN5 mutation in a boy with Bartter-like syndrome and partial growth hormone deficiency.

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Bogdanović, Radovan; Draaken, Markus; Toromanović, Alma; Dordević, Maja; Stajić, Natasa; Ludwig, Michael

2010-11-01

Dent disease is an X-linked recessive disorder affecting the proximal tubule and is characterized by low-molecular-weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis/nephrolithiasis with a variable number of features of Fanconi syndrome. It is most often associated with mutations in CLCN5, which encodes the endosomal electrogenic chloride/proton exchanger ClC-5. Renal acidification abnormalities are only rarely seen in Dent disease, whereas the hypokalemic metabolic alkalosis associated with hyperreninemic hyperaldosteronism (Bartter-like syndrome) has been reported in only one patient so far. We report on a 5-year-old boy with Dent disease caused by mutation in CLCN5 gene, c.1073G>A, who presented with hypokalemic metabolic alkalosis and hyperreninemic hyperaldosteronism persisting over the entire follow-up. No mutations were found in NKCC2, ROMK, NCCT, or ClC-Kb genes. In addition, the patient exhibited growth failure associated with partial growth hormone (GH) deficiency. Coexistence of Bartter-like syndrome features with LMWP should prompt a clinician to search for Dent disease. The Bartter syndrome phenotype seen in Dent disease patients may represent a distinct form of Bartter syndrome, the exact mechanism of which has yet to be fully elucidated. Growth delay that persists in spite of appropriate therapy should raise suspicion of other causes, such as GH deficiency.

Pediatric palliative care for youth with HIV/AIDS: systematic review of the literature

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Wilkins ML

2013-07-01

Full Text Available Megan L Wilkins,1 Ronald H Dallas,1 Kathleen E Fanone,2 Maureen E Lyon3,4 1St Jude Children's Research Hospital, Department of Infectious Diseases, Memphis, TN, USA; 2Johns Hopkins Medical Center, Department of Pediatric Medicine, Baltimore, MD, USA; 3Children's National Medical Center, 4George Washington University School of Medicine and Health Sciences, Washington, DC, USA Abstract: Improvement in treatment has led to decreased death in youth with human immunodeficiency virus (HIV in developed countries. Despite this, youth with HIV are still at risk for increased mortality and morbidity compared with their uninfected counterparts. In developing countries, high numbers of youth die from acquired immune deficiency syndrome (AIDS-related illnesses due to lack of access to consistent antiretroviral treatment. As a result, pediatric palliative care is a relevant topic for those providing care to youth with HIV. A systematic review was conducted to gather information regarding the status of the literature related to pediatric palliative care and medical decision-making for youth with HIV. The relevant literature published between January 2002 and June 2012 was identified through searches conducted using PubMed, CINAHL, Scopus, and PSYCInfo databases and a series of key words. Articles were reviewed by thematic analysis using the pillars of palliative care set out by the National Consensus Project. Twenty-one articles were retained after review and are summarized by theme. In general, few empirically based studies evaluating palliative care and medical decision-making in youth with HIV were identified. Articles identified focused primarily on physical aspects of care, with less attention paid to psychological, social, ethical, and cultural aspects of care. We recommend that future research focuses on broadening the evaluation of pediatric palliative care among youth with HIV by directly evaluating the psychological, social, ethical, and cultural

The Point of View of Pathophysiologist-Endocrinologist on the Problem of Age-Related Androgen Deficiency in Men (LOH-Syndrome

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A.G. Reznikov

2014-09-01

Full Text Available The paper presents a pathophysiological analysis of age-related androgen deficiency syndrome in men (LOH-syndrome with special reference to current knowledge of molecular mechanisms of testosterone effects and androgen regulation of the structure and function of organs and systems of the male body. There is emphasized etiological and pathogenetic role of stress in this pathology. There is presented author’s concept of cause-effect relations between chronic stress, metabolic syndrome and LOH-syndrome.

Prevalence of Trypanosoma cruzi/HIV coinfection in southern Brazil

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Dulce Stauffert

2017-03-01

Full Text Available Chagas disease reactivation has been a defining condition for acquired immune deficiency syndrome in Brazil for individuals coinfected with Trypanosoma cruzi and HIV since 2004. Although the first coinfection case was reported in the 1980s, its prevalence has not been firmly established. In order to know coinfection prevalence, a cross-sectional study of 200 HIV patients was performed between January and July 2013 in the city of Pelotas, in southern Rio Grande do Sul, an endemic area for Chagas disease. Ten subjects were found positive for T. cruzi infection by chemiluminescence microparticle immunoassay and indirect immunofluorescence. The survey showed 5% coinfection prevalence among HIV patients (95% CI: 2.0–8.0, which was 3.8 times as high as that estimated by the Ministry of Health of Brazil. Six individuals had a viral load higher than 100,000 copies per μL, a statistically significant difference for T. cruzi presence. These findings highlight the importance of screening HIV patients from Chagas disease endemic areas.

Sociocultural dimensions of HIV/AIDS among Middle Eastern immigrants in the US: bridging culture with HIV/AIDS programmes.

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Ehsanzadeh-Cheemeh, Parvaneh; Sadeque, Abul; Grimes, Richard M; Essien, E James

2009-09-01

The population of Middle Eastern immigrants in the US has been increasing dramatically over the past 30 years, growing from 200,000 in 1970 to 1.5 million in 2000. These immigrants and their descendants constitute an important new population of interest for public health and other social programmes. With this addition to the cultural diversity of American society, it is important for healthcare programmes to be responsive to the unique cultural needs of those of Middle Eastern origin and to include them in healthcare curricula. This need is particularly imperative for human immunodeficiency virus/acquired immune deficiency syndrome (HIV/AIDS) intervention programmes, where the reduction of risky behaviours is essential to controlling the epidemic. When Middle Easterners emigrate to the US they must adjust to the American culture, which leads to preservation of some aspects of their culture and adjustment of behaviors to match American customs. This article aims to present sociocultural factors of HIV risk behaviours that are specific to Middle Eastern culture. The article also provides recommendations for HIV/AIDS-culturally appropriate intervention programmes.

A syndrome of acute zinc deficiency during total parenteral alimentation in man.

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Kay, R G; Tasman-Jones, C; Pybus, J; Whiting, R; Black, H

1976-01-01

Changes in the plasma and urine levels of the trace metal zinc have been followed in a series of 37 adult patients totally supported by intravenous alimentation. Copper has also been determined in more recent cases. In such a seriously ill group, although urinary zinc loss may be very high at the height of catabolism, severe plasma depletion does not occur unless there is a subsequent phase of sustained anabolism and weight gain. In four patients plasma zinc fell to very low levels during this phase and three of this group developed a syndrome characterized by diarrhea, mental depression, para-nasal, oral and peri-oral dermatitis, and alopecia. The response to oral or intravenous zinc therapy is striking, except for hair regrowth which is delayed but eventually complete. The syndrome we have recognized in adult man has not been previously described. It resembles however the parakeratosis of zinc deficient swine and it is also very similar to Acrodermatitis enteropathica, a genetically determined disorder of infants very recently linked to zinc deficiency. Zinc is clearly essential to human metabolism and it should be included in all parenteral alimentation regimes particularly during the period of rapid, sustained, weight gain. Images Fig. 1. Fig. 2. Fig. 3. Fig. 6. Fig. 7. Fig. 9. Fig. 10. PMID:817677

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

OpenAIRE

Rebouche, C J; Engel, A G

1984-01-01

The human primary carnitine deficiency syndromes are potentially fatal disorders affecting children and adults. The molecular etiologies of these syndromes have not been determined. In this investigation, we considered the hypothesis that these syndromes result from defective transport of carnitine into tissues, particularly skeletal muscle. The problem was approached by mathematical modeling, by using the technique of kinetic compartmental analysis. A tracer dose of L-[methyl-3H]carnitine wa...

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

The effects of HIV/AIDS on economic growth and human capitals: a panel study evidence from Asian countries.

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Roy, Shongkour

2014-01-01

Human immunodeficiency virus/acquired immune deficiency syndrome (HIV/AIDS) affects economic growths by reducing the human capitals are among the most poorly understood aspect of the AIDS epidemic. This article analyzes the effects of the prevalence of HIV and full-blown AIDS on a country's human capitals and economic growths. Using a fixed effect model for panel data 1990-2010 from the Asia, I explored the dynamic relationships among HIV/AIDS, economic growths, and human capitals within countries over time. The econometric effects concerned that HIV/AIDS plays an important role in the field of economic growths and it is measured as a change in real gross domestic product (GDP) per capita and human capitals. The modeling results for the Asian countries indicates HIV/AIDS prevalence that has a hurtful effect on GDP per capita by reducing human capitals within countries over time.

IGF-I deficiency, longevity and cancer protection of patients with Laron syndrome.

Science.gov (United States)

Laron, Zvi; Kauli, Rivka; Lapkina, Lena; Werner, Haim

Laron syndrome (LS) is a unique model of congenital IGF-I deficiency. It is characterized by dwarfism and obesity, and is caused by deletion or mutations of the growth hormone receptor (GH-R) gene. It is hypothesized that LS is an old disease originating in Indonesia and that the mutated gene spread to South Asia, the Middle East, the Mediterranean region and South America. Copyright © 2016 Elsevier B.V. All rights reserved.

Retroviral rebound syndrome after treatment discontinuation in a 15 year old girl with HIV attracted through mother-to-child transmission: case report

OpenAIRE

Gisslén Magnus; Friman Vanda

2007-01-01

Abstract A case of a 15 year old girl with retroviral rebound syndrome after discontinuation of highly active antiretroviral treatment (HAART) due to side effects is presented. The patient was transmitted with HIV at birth by her mother. She had recovered from severe AIDS after HAART was initiated five years earlier. This is the first case reported in the literature of retroviral rebound syndrome in a vertically transmitted HIV-infected patient.

Vitamin D Deficiency is Prevalent in Females with Rett Syndrome

Science.gov (United States)

Motil, Kathleen J.; Barrish, Judy O.; Lane, Jane; Geerts, Suzanne P.; Annese, Fran; McNair, Lauren; Percy, Alan K.; Skinner, Steven A; Neul, Jeffrey L.; Glaze, Daniel G.

2013-01-01

Objectives 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 females with Rett syndrome (RTT). Study design Retrospective review of the medical records of 284 females with RTT to determine serum 25(OH)D and parathyroid hormone levels, nutritional status, dietary sources of vitamin D, exposure to anticonvulsants, degree of mobility, and MECP2 status. Results Twenty percent of females who were tested (n=157) had 25(OH)D levels Anticonvulsants were used by 57% and 39% ambulated independently. Median 25(OH)D levels were lower in individuals who did not receive multivitamin supplements (panticonvulsants, degree of mobility, and MECP2 status did not influence 25(OH)D levels. Conclusion Vitamin D deficiency is prevalent in females with RTT. The use of multivitamin supplements or commercial formulas is associated with improved vitamin D levels. Attention to vitamin D may enhance bone mineral deposition and reduce the frequency of bone fractures in these individuals. PMID:21637127

Sero- and Molecular Epidemiology of HIV-1 in Papua Province, Indonesia

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Muhammad Qushai Yunifiar M

2017-11-01

Full Text Available Background: human immunodeficiency virus (HIV infection and acquired immune deficiency syndrome (AIDS cause serious health problems and affect the Indonesian economy. Papua province has the highest prevalence of HIV infection in the country; however, epidemiological data are limited. Therefore, in order to reveal the current situation of HIV/AIDS in Papua province, sero- and molecular epidemiological studies of HIV were conducted. Methods: serological tests were conducted on 157 healthy individuals from the general population residing in Paniai, Papua. In addition, a molecular epidemiological study was then conducted on HIV type 1 (HIV-1 genes derived from infected individuals. Peripheral blood samples from HIV-1-positive individuals and 15 additionally enrolled, previously confirmed HIV-1-positive individuals were subjected to a genotypic analysis. Results: serological tests revealed that 2 out of 157 (1.27% healthy individuals were HIV-positive. In addition, HIV-1 subtyping revealed that subtype B and CRF01_AE were the major subtype and circulating recombinant form (CRF of HIV-1 prevalent in the region, while subtype A1 and a recombinant form including viral gene fragments of CRF01_AE and subtype B was also detected. In addition, HIV drug resistance-associated major mutations were detected in the reverse transcriptase gene derived from infected individual on antiretroviral therapy. Conclusion: these results provide important information for clearer understanding on the current situation of HIV/AIDS in Papua province in Indonesia.

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

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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…

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

OpenAIRE

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

2013-01-01

In this study, we investigated the effects of GH treatment in children with Down syndrome who had been diagnosed with GH deficiency (GHD). A total of 20 subjects were investigated in this study. Fourteen Down syndrome children (5 boys and 9 girls) with short stature due to GHD were treated with GH at Okayama Red Cross General Hospital, and 6 Down syndrome children (4 boys and 2 girls) with short stature due to GHD were registered in the Pfizer International Growth Database (KIGS). Height SD s...

[Wernicke-Korsakoff syndrome secondary to cytomegalovirus encephalitis: A case report].

Science.gov (United States)

Uribe, Luis Guillermo; Pérez, María Alejandra; Lara, Camilo Andrés; Rueda, Natalia; Hernández, Javier Augusto

2017-12-01

Cytomegalovirus (CMV) is one of the opportunistic microorganisms with the highest prevalence in immunocompromised patients. Reactivation has decreased after the introduction of highly active antiretroviral therapy (HAART). Encephalitis has been reported in the coinfection as one of the most frequent presentations.We present the case of a young adult patient with HIV infection and rapid neurological deterioration due to classic clinical symptoms and signs of the Wernicke-Korsakoff syndrome, with no risk factors for thiamine deficiency, with images by nuclear magnetic resonance typical of the syndrome, and identification of cytomegalovirus in cerebrospinal fluid. The specific treatment for CMV managed to control the symptoms with neurological sequelae in progression towards improvement.This is one of the few cases reported in the literature of Wernicke syndrome secondary to cytomegalovirus encephalitis.

Predictors of anaemia and iron deficiency in HIV-infected pregnant women in Tanzania: a potential role for vitamin D and parasitic infections.

Science.gov (United States)

Finkelstein, Julia L; Mehta, Saurabh; Duggan, Christopher P; Spiegelman, Donna; Aboud, Said; Kupka, Roland; Msamanga, Gernard I; Fawzi, Wafaie W

2012-05-01

Anaemia is common during pregnancy, and prenatal Fe supplementation is the standard of care. However, the persistence of anaemia despite Fe supplementation, particularly in HIV infection, suggests that its aetiology may be more complex and warrants further investigation. The present study was conducted to examine predictors of incident haematological outcomes in HIV-infected pregnant women in Tanzania. Prospective cohort study. Cox proportional hazards and binomial regression models were used to identify predictors of incident haematological outcomes: anaemia (Hb anaemia (Hb anaemia and hypochromic microcytosis during follow-up. Higher baseline erythrocyte sedimentation rate and CD8 T-cell concentrations, and lower Hb concentrations and CD4 T-cell counts, were independent predictors of incident anaemia and Fe deficiency. Low baseline vitamin D (anaemia and hypochromic microcytosis, respectively, during the follow-up period. Parasitic infections, vitamin D insufficiency, low CD4 T-cell count and high erythrocyte sedimentation rate were the main predictors of anaemia and Fe deficiency in pregnancy and the postpartum period in this population. A comprehensive approach to prevent and manage anaemia, including micronutrient supplementation and infectious disease control, is warranted in HIV-infected women in resource-limited settings - particularly during the pre- and postpartum periods.

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

OpenAIRE

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

2016-01-01

Background Severe combined immunodeficiency (SCID) syndromes are a heterogenous group of diseases characterized by impairment in both cellular and humoral immunity with a range of genetic disorders. Complete recombinase activating gene (RAG) deficiency is associated with classical T-B-NK+ SCID which is the most common phenotype of Turkish SCID patients. There is a broad spectrum of hypomorfic RAG mutations including Omenn syndrome, leaky or atypical SCID with expansion of ?? T cells, autoimmu...

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

International Nuclear Information System (INIS)

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

1987-01-01

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

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

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.

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

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

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, Inês; 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; Marina, Adela Della; 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, Michél 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

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

NARCIS (Netherlands)

Leen, W.G.; Klepper, J.; Verbeek, M.M.; Leferink, M.; Hofste, T.; Engelen, B.G.M. van; Wevers, R.A.; Arthur, T.; Bahi-Buisson, N.; Ballhausen, D.; Bekhof, J.; Bogaert, P. van; Carrilho, I.; Chabrol, B.; Champion, M.P.; Coldwell, J.; Clayton, P.; Donner, E.; Evangeliou, A.; Ebinger, F.; Farrell, K.; Forsyth, R.J.; Goede, C.G. de; Gross, S.; Grunewald, S.; Holthausen, H.; Jayawant, S.; Lachlan, K.; Laugel, V.; Leppig, K.; Lim, M.J.; Mancini, G.; Marina, A.D.; Martorell, L.; McMenamin, J.; Meuwissen, M.E.; Mundy, H.; Nilsson, N.O.; Panzer, A.; Poll-The, B.T.; Rauscher, C.; Rouselle, C.M.; Sandvig, I.; Scheffner, T.; Sheridan, E.; Simpson, N.; Sykora, P.; Tomlinson, R.; Trounce, J.; Webb, D.; Weschke, B.; Scheffer, H.; Willemsen, M.A.A.P.

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

Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.

Science.gov (United States)

Lavoine, N; Colas, C; Muleris, M; Bodo, S; Duval, A; Entz-Werle, N; Coulet, F; Cabaret, O; Andreiuolo, F; Charpy, C; Sebille, G; Wang, Q; Lejeune, S; Buisine, M P; Leroux, D; Couillault, G; Leverger, G; Fricker, J P; Guimbaud, R; Mathieu-Dramard, M; Jedraszak, G; Cohen-Hagenauer, O; Guerrini-Rousseau, L; Bourdeaut, F; Grill, J; Caron, O; Baert-Dusermont, S; Tinat, J; Bougeard, G; Frébourg, T; Brugières, L

2015-11-01

Constitutional mismatch repair deficiency (CMMRD) syndrome is a childhood cancer predisposition syndrome involving biallelic germline mutations of MMR genes, poorly recognised by clinicians so far. Retrospective review of all 31 patients with CMMRD diagnosed in French genetics laboratories in order to describe the characteristics, treatment and outcome of the malignancies and biological diagnostic data. 67 tumours were diagnosed in 31 patients, 25 (37%) Lynch syndrome-associated malignancies, 22 (33%) brain tumours, 17 (25%) haematological malignancies and 3 (5%) sarcomas. The median age of onset of the first tumour was 6.9 years (1.2-33.5). Overall, 22 patients died, 9 (41%) due to the primary tumour. Median survival after the diagnosis of the primary tumour was 27 months (0.26-213.2). Failure rate seemed to be higher than expected especially for T-cell non-Hodgkin's lymphoma (progression/relapse in 6/12 patients). A familial history of Lynch syndrome was identified in 6/23 families, and consanguinity in 9/23 families. PMS2 mutations (n=18) were more frequent than other mutations (MSH6 (n=6), MLH1 (n=4) and MSH2 (n=3)). In conclusion, this unselected series of patients confirms the extreme severity of this syndrome with a high mortality rate mostly related to multiple childhood cancers, and highlights the need for its early detection in order to adapt treatment and surveillance. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

Determinants of subjective health status of HIV positive mothers in NAUTH Nnewi.

Science.gov (United States)

Nwabueze, S A; Adogu, P O U; Adinma, E D; Ifeadike, C O; Nnebue, C C; Ilika, A L; Ikechebelu, J I

2012-01-01

Acquired immune deficiency syndrome (AIDS) caused by human immune deficiency virus (HIV), once dominated by infected males has become feminized especially in sub-Saharan Africa where the majority of adults living with the condition are females. Positive life styles, belonging to social support groups and stigma-free HIV services by providers may have good impact on the quality of life of HIV-positive mothers. This study was aimed at assessing the determinants of subjective health status of HIV-positive mothers accessing prevention-of-mother-to-child-transmission (PMTCT) of HIV services in Nnamdi Azikiwe University Teaching Hospital (NAUTH) Nnewi. This is a descriptive study in which 288 consenting HIV positive mothers were selected using the systematic sampling technique. Data on demographics, life style, social support, contraceptive use and subjective feeling about current health status were collected from the subjects using a pre-tested, structured, interviewer-administered questionnaire. The mean age of the respondents was 30.46 +/- 4.86 years. Majority (89.2%) of them were married while 55.2% were traders. A significantly higher proportion of the mothers on highly active anti retroviral therapy (HAART) (70.8%) than non users (29.2%) described their current health status as 'excellent' (p<0.001). Also a significantly higher proportion of condom users (99%) than pill users (1%) described their health status as 'excellent' (p<0.02). The same significantly higher proportions of 'excellent' response were given by subjects who engage in social support activities (p<0.001), who practice good feeding (p<0.01) andpersonal hygiene (p<0.01). Access to family planning services and HAART, participation in support group activities and positive lifestyle practices tend to improve subjective health status and should be comprehensively encouraged among the HIV positive mothers.

Securitizing HIV/AIDS: a game changer in state-societal relations in China?

Science.gov (United States)

Lo, Catherine Yuk-Ping

2018-05-16

China has experienced unprecedented economic growth since the 1980s. Despite this impressive economic development, this growth exists side by side with the human immunodeficiency virus/acquired immune deficiency syndrome (HIV/AIDS) and severe acute respiratory syndrome (SARS) crises and the persisting deficiencies in public health provision in China. Acknowledging the prevailing health problems, the Chinese government has encouraged the development of health non-governmental organizations (NGOs) to respond to the health challenges and address the gaps in public health provision of the government. HIV/AIDS-focused NGOs have been perceived as the most outstanding civil society group developed in China. Considering the low priority of health policies since the economic reform, the limitation of the "third sector" activity permitted in authoritarian China, together with the political sensitivity of the HIV/AIDS problem in the country, this article aims to explain the proliferation of HIV/AIDS-focused NGOs in China with the usage of the securitization framework in the field of international relations (IR). The research that underpins this article is based on a desk-based literature review as well as in-depth field interviews with individuals working in HIV/AIDS-focused NGOs in China. Face-to-face interviews for this research were conducted between January and May in 2011, and between December 2016 and January 2017, in China. Discourse analysis was in particular employed in the study of the security-threat framing process (securitization) of HIV/AIDS in China. This article argues that the proliferation of HIV/AIDS-related NGOs in China is largely attributed to the normative and technical effects of HIV/AIDS securitization ushered in by the United Nations Security Council (UNSC) and supported by the Global Fund to Fight AIDS, Tuberculosis, and Malaria (hereinafter Global Fund) observed in China. Despite depicting a positive scenario, the development of HIV

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.

The clinical syndrome of specific antibody deficiency in children.

Science.gov (United States)

Boyle, R J; Le, C; Balloch, A; Tang, M L-K

2006-12-01

Specific antibody deficiency (SAD) is an immune deficiency which has been reported in adults and children with recurrent respiratory tract infections; however, the clinical features of SAD are not well described. This study evaluated formally the clinical syndrome of SAD, by comparing the clinical features of children with SAD and those of children with recurrent infection but normal immune function tests. SAD was defined as an adequate IgG antibody response to less than 50% of 12 pneumococcal serotypes tested following 23-valent unconjugated pneumococcal immunization. An adequate IgG antibody response was defined as a post-immunization titre of >or= 1.3 microg/ml or >or= four times the preimmunization value. Seventy-four children with recurrent infection were evaluated where immune deficiencies other than SAD had been excluded. Eleven (14.9%) of these children had SAD. Clinical features differed between the group with SAD and the group with normal antibody responses. A history of otitis media, particularly in association with chronic otorrhoea was associated with SAD [relative risk (RR) of SAD in those with chronic otorrhoea 4.64 (P = 0.02)]. SAD was associated with allergic disease, particularly allergic rhinitis [RR of SAD in those with allergic rhinitis 3.77 (P = 0.04)]. These two clinical associations of SAD were independent in this study [RR of chronic otorrhoea in those with allergic rhinitis 0.85 (P = 0.28)]. SAD was not an age-related phenomenon in this population. SAD has a distinct clinical phenotype, presenting as recurrent infection associated with chronic otorrhoea and/or allergic disease, and the condition should be sought in children with these features.

Use of etanercept in human immunodeficiency virus (HIV) and acquired immunodeficiency syndrome (AIDS) patients.

Science.gov (United States)

Ting, Patricia T; Koo, John Y

2006-06-01

Etanercept (Enbrel, Amgen, Thousand Oaks, CA), a soluble p75 tumor necrosis factor receptor:FC (TNFR:FC) fusion protein for plasma cytokines, specifically tumor necrosis factor-alpha (TNF-alpha), is used in the treatment of immune-mediated rheumatic diseases. To our knowledge, the use of etanercept in patients with human immunodeficiency virus (HIV) and acquired immunodeficiency syndrome (AIDS) is relatively uncommon. The main purpose of this short review is to examine the safety of etanercept in patients with HIV/AIDS. A Medline search was conducted using the keywords etanercept and HIV and/or AIDS for any published articles between 1966 to the present (September 2004). A case report, one case series, and one clinical trial pertained to the use of etanercept in HIV patients. No reports were found on the use of etanercept in AIDS. In addition, two case reports were found documenting the use of infliximab in HIV patients. Preliminary reports indicate that the administration of etanercept does not appear to increase the morbidity or mortality rates in HIV. The inhibition of TNF-alpha may actually improve the symptoms of HIV/AIDS-associated aphthous ulcers, cachexia, dementia, fatigue, and fever, as well as help manage concomitant rheumatic diseases and psoriasis. The use of etanercept shows promise for applications in disease management in patients with HIV/AIDS. Continued research efforts are necessary to establish the long-term safety and efficacy of etanercept and other biologic agents in this patient population.

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

Science.gov (United States)

Graham, John M

2012-05-01

Glucose transporter-1 (GLUT1) deficiency syndrome is caused by heterozygous mutations in the SLC2A1 gene, resulting in impaired glucose transport into the brain. It is characterized by a low glucose concentration in the cerebrospinal fluid (hypoglycorrhachia) in the absence of hypoglycemia, in combination with low to normal lactate in the cerebrospinal fluid (CSF). It often results in treatment-resistant infantile epilepsy with progressive developmental disabilities and a complex movement disorder. Recognizing GLUT1 deficiency syndrome is important, since initiation of a ketogenic diet can reduce the frequency of seizures and the severity of the movement disorder. There can be a considerable delay in diagnosing GLUT1 deficiency syndrome, and this point is illustrated by the natural history of this disorder in a 21-year-old woman with severe, progressive neurological disabilities. Her encephalopathy consisted of treatment-resistant seizures, a complex movement disorder, progressive intellectual disability, and deceleration of her head growth after late infancy. Focused evaluation at age 21 revealed GLUT1 deficiency caused by a novel heterozygous missence mutation in exon 7 (c.938C > A; p.Ser313Try) in SLC2A1 as the cause for her disabilities. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

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

Acceptability of HIV/AIDS testing among pre-marital couples in Iran (2012).

Science.gov (United States)

Ayatollahi, Jamshid; Nasab Sarab, Mohammad Ali Bagheri; Sharifi, Mohammad Reza; Shahcheraghi, Seyed Hossein

2014-07-01

Human immunodeficiency virus (HIV)/acquired immune deficiency syndrome (AIDS) is a lifestyle-related disease. This disease is transmitted through unprotected sex, contaminated needles, infected blood transfusion and from mother to child during pregnancy and delivery. Prevention of infection with HIV, mainly through safe sex and needle exchange programmes is a solution to prevent the spread of the disease. Knowledge about HIV state helps to prevent and subsequently reduce the harm to the later generation. The purpose of this study was to assess the willingness rate of couples referred to the family regulation pre-marital counselling centre for performing HIV test before marriage in Yazd. In this descriptive study, a simple random sampling was done among people referred to Akbari clinic. The couples were 1000 men and 1000 women referred to the premarital counselling centre for pre-marital HIV testing in Yazd in the year 2012. They were in situations of pregnancy, delivery or nursing and milking. The data were analyzed using Statistical Package for the Social Sciences (SPSS) software and chi-square statistical test. There was a significant statistical difference between the age groups about willingness for HIV testing before marriage (P marriage was significant. Therefore, HIV testing before marriage as a routine test was suggested.

HIV-related ocular microangiopathic syndrome and color contrast sensitivity.

Science.gov (United States)

Geier, S A; Hammel, G; Bogner, J R; Kronawitter, U; Berninger, T; Goebel, F D

1994-06-01

Color vision deficits in patients with acquired immunodeficiency syndrome (AIDS) or human immunodeficiency virus (HIV) disease were reported, and a retinal pathogenic mechanism was proposed. The purpose of this study was to evaluate the association of color vision deficits with HIV-related retinal microangiopathy. A computer graphics system was used to measure protan, deutan, and tritan color contrast sensitivity (CCS) thresholds in 60 HIV-infected patients. Retinal microangiopathy was measured by counting the number of cotton-wool spots, and conjunctival blood-flow sludging was determined. Additional predictors were CD4+ count, age, time on aerosolized pentamidine, time on zidovudine, and Walter Reed staging. The relative influence of each predictor was calculated by stepwise multiple regression analysis (inclusion criterion; incremental P value = < 0.05) using data for the right eyes (RE). The results were validated by using data for the left eyes (LE) and both eyes (BE). The only included predictors in multiple regression analyses for the RE were number of cotton-wool spots (tritan: R = .70; deutan: R = .46; and protan: R = .58; P < .0001 for all axes) and age (tritan: increment of R [Ri] = .05, P = .002; deutan: Ri = .10, P = .004; and protan: Ri = .05, P = .002). The predictors time on zidovudine (Ri = .05, P = .002) and Walter Reed staging (Ri = .03, P = .01) were additionally included in multiple regression analysis for tritan LE. The results for deutan LE were comparable to those for the RE. In the analysis for protan LE, the only included predictor was number of cotton-wool spots. In the analyses for BE, no further predictors were included. The predictors Walter Reed staging and CD4+ count showed a significant association with all three criteria in univariate analysis. Additionally, tritan CCS was significantly associated with conjunctival blood-flow sludging. CCS deficits in patients with HIV disease are primarily associated with the number of cotton

HIV-1 Tat and AIDS-associated cancer: targeting the cellular anti-cancer barrier?

Directory of Open Access Journals (Sweden)

Daniel René

2008-05-01

Full Text Available Abstract The acquired immunodeficiency syndrome (AIDS is accompanied by a significant increase in the incidence of neoplasms. Several causative agents have been proposed for this phenomenon. These include immunodeficiency and oncogenic DNA viruses and the HIV-1 protein Tat. Cancer in general is closely linked to genomic instability and DNA repair mechanisms. The latter maintains genomic stability and serves as a cellular anti-cancer barrier. Defects in DNA repair pathway are associated with carcinogenesis. This review focuses on newly discovered connections of the HIV-1 protein Tat, as well as cellular co-factors of Tat, to double-strand break DNA repair. We propose that the Tat-induced DNA repair deficiencies may play a significant role in the development of AIDS-associated cancer.

Articulating a rights-based approach to HIV treatment and prevention interventions.

Science.gov (United States)

Barr, David; Amon, Joseph J; Clayton, Michaela

2011-09-01

Since the beginning of the epidemic, the protection of human rights has been an integral component in the response to Human Immunodeficiency Virus (HIV). The high degree of stigma and discrimination associated with acquired immune deficiency syndrome (AIDS) has made human rights protection not only a priority to ensure the rights of people living with and at-risk for HIV, but to address public health goals as well. Advances in understanding the impact of antiretroviral treatment on HIV prevention provide exciting opportunities and even a paradigm shift in terms of AIDS prevention. However, this potential cannot be reached unless the advancement of human rights is a primary component of treatment and prevention programme and policy development. The use of antiretroviral treatment as prevention reinforces the value of basic principles related to the dignity and agency of people living with HIV to participate in the design and implementation of programmes, to be informed and to make informed decisions about their health and lives, to be protected from harm, and to have opportunities to seek redress and accountability for abuses. The possibility of using HIV treatment as a prevention tool means that now, more than ever, legal reform and community empowerment and mobilisation are necessary to realize the rights and health of people affected by HIV.

Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?

Science.gov (United States)

Wimmer, Katharina; Etzler, Julia

2008-09-01

Heterozygous mutations in one of the mismatch repair (MMR) genes MLH1, MSH2, MSH6 and PMS2 cause the dominant adult cancer syndrome termed Lynch syndrome or hereditary non-polyposis colorectal cancer. During the past 10 years, some 35 reports have delineated the phenotype of patients with biallelic inheritance of mutations in one of these MMR genes. The patients suffer from a condition that is characterised by the development of childhood cancers, mainly haematological malignancies and/or brain tumours, as well as early-onset colorectal cancers. Almost all patients also show signs reminiscent of neurofibromatosis type 1, mainly café au lait spots. Alluding to the underlying mechanism, this condition may be termed as "constitutional mismatch repair-deficiency (CMMR-D) syndrome". To give an overview of the current knowledge and its implications of this recessively inherited cancer syndrome we summarise here the genetic, clinical and pathological findings of the so far 78 reported patients of 46 families suffering from this syndrome.

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.

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.

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 ...

Genetics Home Reference: corticosterone methyloxidase deficiency

Science.gov (United States)

... hyperreninemic hypoaldosteronism steroid 18-hydroxylase deficiency steroid 18-oxidase deficiency Visser-Cost syndrome ... Potassium Test Health Topic: Adrenal Gland Disorders Health Topic: Fluid ...

Age, Stigma, Adherence and Clinical Indicators in HIV-Infected Women.

Science.gov (United States)

McCoy, Katryna; Higgins, Melinda; Zuñiga, Julie Ann; Holstad, Marcia McDonnell

Stigma has become a gendered phenomenon that affects increasing numbers of HIV-infected women worldwide. This study examined the role of age as a possible moderator of the relationship between stigma and antiretroviral therapy adherence, CD4% and viral load among 120 HIV-infected women. A secondary analysis was conducted using data from the Keeping Healthy and Active with Risk Reduction and Medication Adherence (KHARMA) Project, an National Institutes of Health (NIH) funded randomized controlled trial to improve Antiretroviral treatment (ART) adherence and reduce risky behaviors in HIV-infected women at five clinical sites in a South-eastern city from 2005 to 2008. Stigma was measured using the Perceived Personal Stigma of Human Immunodeficiency Virus and Acquired Immune Deficiency Syndrome (HIV/AIDS) scale. Among participants stigma was negatively associated with CD4% (r =-.26, p=.02). For the 30 participants >50 years old, age was not significantly associated with viral load, stigma or CD4%, and there was no significant association between stigma and CD4% (r=.07, p=.70). These findings indicate the need for further study regarding this potential moderating effect and possible interventions to address the susceptibility of younger women to the harmful effects of stigma.

Possible association between vitamin D deficiency and restless legs syndrome

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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

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

International Nuclear Information System (INIS)

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

1984-01-01

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

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

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Kosho, Tomoki

2016-02-01

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

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...

Empty sella syndrome associated with hormone deficiency in adults

International Nuclear Information System (INIS)

Oleaga, L.; Paja, M.; Goni, F.; Grande, J.; Grande, D.; Merino, M.; Delgado, A.

1999-01-01

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

Diabetic retinopathy in two patients with congenital IGF-I deficiency (Laron syndrome).

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Laron, Zvi; Weinberger, Dov

2004-07-01

Animal and clinical studies have shown that excessive amounts of growth hormone or insulin-like growth factor-I (IGF-I) promote the development of diabetes and diabetic retinopathy. Forthwith, we present two patients with congenital IGF-I deficiency who developed type II diabetes and subsequently retinopathy. Eighteen adult patients with classical Laron syndrome (8 males, 10 females, aged 20-62 years) were followed by us since childhood or underwent fundus photography with a Nikon NF 505 instrument. Three had been treated in childhood with IGF-I, the rest were never treated, including the two patients reported. Two never-treated patients were diagnosed with type II diabetes (DM) at ages 39 and 41 respectively. There was no diabetes in the families. Oral treatment was followed by insulin injections. Metabolic control was not optimal and one patient developed proliferative diabetic retinopathy, necessitating laser surgery. He also has nephropathy and severe neuropathy. The other patient has background diabetic retinopathy and has developed, progressively, exudates, microaneurisms, hemorrhages and clinically significant macular edema. He also has subacute ischemic heart disease. Our findings show that congenital IGF-I deficiency, similar to excess, causes vascular complications of DM, denoting also that vascular endothelial growth factor can induce neovascularization in the presence of congenital IGF-I deficiency.

Impact of HIV/aids epidemic on human capital development in West Africa.

Science.gov (United States)

Dauda, Rasaki Stephen

2018-01-12

West Africa occupies the third position with respect to the burden of human immunodeficiency virus/acquired immune deficiency syndrome (HIV/AIDS) globally, after Southern and East Africa. About 5 million adults and children are infected with the disease in the subregion, while HIV prevalence in the general population hovers around 2% and 5%. This paper attempts to investigate the impact of HIV/AIDS epidemic on human capital development in 11 West African countries over the period 1990 to 2011. The study used a dynamic panel data modeling approach, using first difference, difference generalized methods of moment, and system generalized methods of moment estimating techniques. Four measures of HIV/AIDS and 2 human capital measures were used in the study. The findings revealed that HIV/AIDS pandemic had negative and significant impact on human capital in West Africa. However, the statistical significance was more pronounced on life expectancy (a measure of human capital), while the negative impact on school enrolment (another human capital measure) was not significant. It is therefore recommended that the spread of HIV/AIDS disease in West Africa should be effectively controlled, while the number of infected persons undergoing antiretroviral therapy in the subregion should be increased to a near 100% coverage. Copyright © 2018 John Wiley & Sons, Ltd.

Risk of cancer among HIV-infected individuals compared to the background population

DEFF Research Database (Denmark)

Helleberg, Marie; Gerstoft, Jan; Afzal, Shoaib

2014-01-01

BACKGROUND: The relative impact of immune deficiency and lifestyle-related factors on risk of cancer in the HIV-infected population is controversial. We aimed to estimate the population-attributable fractions (PAFs) associated with smoking, being HIV-infected and with immune deficiency. METHODS...... of cancer associated with smoking and with being HIV-infected were 27 and 49%, respectively. For cancers not strongly related to smoking or viral infections, the PAFs associated with being HIV-infected and with immune deficiency were 0%. CONCLUSION: The risk of cancer is increased in HIV patients compared......: In a Danish, nationwide, population-based cohort study (1995-2011), incidences of cancer were compared between an HIV-infected cohort and a population-based matched cohort in analyses stratified on cancer category, smoking status and for HIV patients: low CD4 cell count. RESULTS: We included 3503 HIV patients...

Correction of glutathione deficiency in the lower respiratory tract of HIV seropositive individuals by glutathione aerosol treatment.

Science.gov (United States)

Holroyd, K J; Buhl, R; Borok, Z; Roum, J H; Bokser, A D; Grimes, G J; Czerski, D; Cantin, A M; Crystal, R G

1993-10-01

Concentrations of glutathione, a ubiquitous tripeptide with immune enhancing and antioxidant properties, are decreased in the blood and lung epithelial lining fluid of human immunodeficiency virus (HIV) seropositive individuals. Since the lung is the most common site of infection in those who progress to AIDS it is rational to consider whether it is possible to safely augment glutathione levels in the epithelial lining fluid of HIV seropositive individuals, thus potentially improving local host defence. Purified reduced glutathione was delivered by aerosol to HIV seropositive individuals (n = 14) and the glutathione levels in lung epithelial lining fluid were compared before and at one, two, and three hours after aerosol administration. Before treatment total glutathione concentrations in the epithelial lining fluid were approximately 60% of controls. After three days of twice daily doses each of 600 mg reduced glutathione, total glutathione levels in the epithelial lining fluid increased and remained in the normal range for at least three hours after treatment. Strikingly, even though > 95% of the glutathione in the aerosol was in its reduced form, the percentage of oxidised glutathione in epithelial lining fluid increased from 5% before treatment to about 40% three hours after treatment, probably reflecting the use of glutathione as an antioxidant in vivo. No adverse effects were observed. It is feasible and safe to use aerosolised reduced glutathione to augment the deficient glutathione levels of the lower respiratory tract of HIV seropositive individuals. It is rational to evaluate further the efficacy of this tripeptide in improving host defence in HIV seropositive individuals.

A novel mutation of the adrenocorticotropin receptor (ACTH-R) gene in a family with the syndrome of isolated glucocorticoid deficiency, but no ACTH-R abnormalities in two families with the triple A syndrome

Energy Technology Data Exchange (ETDEWEB)

Tsigos, C.; Arai, K.; Latronico, A.C. [National Inst. of Child Health and Human Development, Bethesda, MD (United States)]|[Temple Univ. School of Medicine, Philadelphia, PA (United States)]|[Children`s Hospital of New Jersey, Newark, NJ (United States)] [and others

1995-07-01

Isolated glucocorticoid deficiency (IGD) is an autosomal recessive disorder characterized by primary adrenocortical insufficiency, usually without mineralocorticoid deficiency. Occasionally, the disorder is associated with alacrima and achalasia of the esophagus (triple A syndrome), suggesting potential heterogeneity in its etiology. Mutations in the ACTH receptor gene have been reported in several families with IGD. We have amplified and directly sequenced the entire intronless ACTH receptor gene in 1 other family with IGD and 2 famlies with triple A syndrome. The proband with IGD was a homozygote for an A {r_arrow}G substitution, changing tyrosine 254 to cysteine in the third extracellular loop of the receptor protein, probably interfering with ligand binding. Both of her parents were heterozygotes for this mutation, which was not detected in 100 normal alleles. No mutations were identified in the entire coding area of the ACTH receptor in the 2 families with triple A syndrome, supporting the idea of a developmental or postreceptor defect in this syndrome. 19 refs., 1 fig.

VERTICAL TRANSMISSION OF HIV: A STUDY PERFORMED AT THE MUNICIPALITY OF SOUTHWEST BAIANO

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Maria Tereza Magalhães Morais

2014-09-01

Full Text Available The Human Immunodeficiency Virus (HIV is a Retrovirus RNA of simple filament, responsible for the Acquired Immune Deficiency Syndrome (AIDS. The virus affects the body's immunologic system destroying the defense cells, particularly the CD4 + T lymphocytes. By the infection of women of reproductive age comes another form of HIV transmission, the vertical transmission, it is a kind of contamination from mother to fetus or to newborn. Such transmission can occur during pregnancy, through birth or through breastfeeding. The research's scope was to evaluate the social and economic profile of HIV positive pregnant women among 2007- 2012, in a city located in southwestern of Bahia (Brazil country. Through data primaries gathered by analyzing records research and notification of HIV positive pregnant women living in Vitória da Conquista, Bahia, Brazil, registered in the Information System for Notifiable Diseases (SINAN could be verified records of 110 cases of pregnant women infected by HIV in the city among the researched period. Through the research, could be verified a high rate of young women with low education level and living in the urban area of city, as well a low rate of vertical transmission.

The socio-cultural context of the transmission of HIV in Thailand.

Science.gov (United States)

Ford, N; Koetsawang, S

1991-01-01

At a global level there are considerable differences between regions in the levels of prevalence, and rate of transmission, of the Human Immunodeficiency Virus (HIV)/Acquired Immune Deficiency Syndrome (AIDS). Furthermore there are differences between regions in the social and demographic characteristics of HIV carriers/AIDS sufferers (e.g. heterosexuals, homosexuals, injecting drug users, infants). It is notable that Asia has generally lagged behind other regions in the spread of HIV. However recently Thailand has acknowledged rapidly increasing levels of infection. This paper is structured in terms of three broad sections. (1) An outline of some basic epidemiological principles concerning the transmission of HIV which help account for the regional variations in prevalence; (2) a description of the emerging awareness of HIV as a public health problem within Thailand; (3) a review of the social characteristics of HIV carriers in Thailand, interpreted by reference to the wider social context, chiefly in terms of; the commercial sex industry/sexual lifestyles, international tourism, and injecting drug dependency. Reference is also made to impressions of the personal response of individuals learning of their HIV seropositive status. A brief comment compares the sexual culture and sex industry in Thailand to that of other South East Asian countries (most notably the Philippines). The paper highlights the importance of considering the particular social and historical factors which shape and sustain the transmission of HIV within a particular country.

Presence of the Metabolic Syndrome Is Not a Better Predictor of Cardiovascular Disease Than the Sum of Its Components in HIV-Infected Individuals Data Collection on Adverse events of Anti-HIV Drugs (D:A:D) study

NARCIS (Netherlands)

Worm, Signe W.; Sabin, Caroline A.; Reiss, Peter; El-Sadr, Wafaa; D'Arminio Monforte, Antonella; Pradier, Christian; Thiebaut, Rodolphe; Law, Matthew; Rickenbach, Martin; de Wit, Stephane; Lundgren, Jens D.; Friis-Møller, Nina

2009-01-01

OBJECTIVE - It is much debated whether the metabolic syndrome contributes additional information over and above that provided by the individual components of the syndrome alone Among HIV-infected individuals, we investigated whether any particular combinations of the components included in the

Zinc finger nuclease: a new approach for excising HIV-1 proviral DNA from infected human T cells.

Science.gov (United States)

Qu, Xiying; Wang, Pengfei; Ding, Donglin; Wang, Xiaohui; Zhang, Gongmin; Zhou, Xin; Liu, Lin; Zhu, Xiaoli; Zeng, Hanxian; Zhu, Huanzhang

2014-09-01

A major reason that Acquired Immune Deficiency Syndrome (AIDS) cannot be completely cured is the human immunodeficiency virus 1 (HIV-1) provirus integrated into the human genome. Though existing therapies can inhibit replication of HIV-1, they cannot eradicate it. A molecular therapy gains popularity due to its specifically targeting to HIV-1 infected cells and effectively removing the HIV-1, regardless of viral genes being active or dormant. Now, we propose a new method which can excellently delete the HIV provirus from the infected human T cell genome. First, we designed zinc-finger nucleases (ZFNs) that target a sequence within the long terminal repeat (LTR) U3 region that is highly conserved in whole clade. Then, we screened out one pair of ZFN and named it as ZFN-U3. We discovered that ZFN-U3 can exactly target and eliminate the full-length HIV-1 proviral DNA after the infected human cell lines treated with it, and the frequency of its excision was about 30 % without cytotoxicity. These results prove that ZFN-U3 can efficiently excise integrated HIV-1 from the human genome in infected cells. This method to delete full length HIV-1 in human genome can therefore provide a novel approach to cure HIV-infected individuals in the future.

Saúde auditiva, o vírus da imunodeficiência humana e a síndrome da imunodeficiência adquirida: uma revisão Hearing health, the human immunodeficiency virus and the acquired immunodeficiency syndrome: a review

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Thais Catalani Morata

2010-08-01

Full Text Available TEMA: a Síndrome da Imunodeficiência Adquirida (SIDA/AIDS é causada pelo Vírus da Imunodeficiência Humana (VIH/HIV, e resulta numa imunidade reduzida, o que torna o indivíduo mais susceptível a doenças e infecções oportunistas. Com o avanço da doença as estruturas do sistema auditivo central podem ser comprometidas pela ação direta do vírus ou decorrente de infecções secundárias e neoplasias. O portador do HIV/AIDS pode também se tornar mais vulnerável a outras patologias do ouvido. OBJETIVO: o objetivo desta revisão foi exploratório, visando identificar os possíveis pontos de interseção entre distúrbios auditivos e a Síndrome da Imunodeficiência Adquirida. Realizou-se uma revisão da literatura sobre a saúde auditiva dos portadores de HIV/AIDS e foi discutido o impacto potencial de patologias auditivas na qualidade de vida. CONCLUSÃO: a literatura sugere que várias possiveis associações existam entre os distúrbios auditivos e a Síndrome da Imunodeficiência Adquirida e o Vírus da Imunodeficiência Humana. Profissionais de saúde, inclusive aqueles dos serviços públicos no Brasil, deveriam examinar a necessidade de iniciativas de saúde auditiva dirigida aos portadores de HIV/AIDS para prevenir patologias auditivas ou reduzir seu impacto na qualidade de vida.BACKGROUND: Acquired Immunodeficiency Syndrome (or Acquired immune deficiency syndrome or AIDS is caused by the Human Immunodeficiency Virus (HIV and results in reduced immunity, leaving affected individuals more susceptible to illness and opportunistic infections. As the disease progresses, structures within the central auditory system can be affected either by the direct action of the virus or as a consequence of secondary infections. Other areas of the auditory system may also be more vulnerable to pathology in people living with HIV or AIDS. PURPOSE: the goal of this review was exploratory, to identify possible points of intersection between auditory

[Characteristics of traditional Chinese medicine syndromes in patients with acute ischemic stroke of yin or yang syndrome: a multicenter trial].

Science.gov (United States)

You, Jin-song; Huang, Yan; Cai, Ye-feng; Guo, Jian-wen; Liang, Wei-xiong; Huang, Pei-xin; Liu, Mao-cai

2008-04-01

To explore the composition characteristics of traditional Chinese medicine (TCM) syndromes in patients with acute ischemic stroke of yin or yang syndrome by investigating the characteristics of TCM syndromes at different periods after onset. One thousand two hundred and forty-six patients with acute ischemic stroke were admitted in twenty hospitals. According to the "diagnostic criteria of syndrome differentiation of stroke", the characteristics of syndromes in the patients were investigated at the periods of 1-3 days, 4-10 days and 11-30 days after they had ischemic stroke. General distribution of six basic syndromes was compared between the patients with yin syndrome and the patients with yang syndrome at the three periods. The six basic syndromes were wind syndrome, pathogenic fire syndrome, phlegm syndrome, blood stasis syndrome, qi deficiency syndrome, and syndrome of yin deficiency and yang hyperactivity. The percentages of wind, pathogenic fire, and phlegm syndromes in the patients were decreased at the period of 11-30 days as compared with the period of 1-3 days (87.1% vs 79.3%, 52.1% vs 38.7% and 67.1% vs 57.4% respectively, P0.05). There were no differences in the distribution of yin and yang syndromes among the three periods (P>0.05). The percentages of syndromes of wind, pathogenic fire, phlegm, and yin deficiency and yang hyperactivity were higher (Pfour or five syndromes were higher, and the percentages of single-syndromes and complex syndromes of two syndromes were lower in patients with yang syndrome than in patients with yin syndrome (P<0.05, P<0.01). The most frequent complex syndromes in patients with yin syndrome were complex syndrome of wind, phlegm, blood stasis and qi deficiency, and complex syndrome of wind, phlegm and qi deficiency; while the most frequent complex syndromes in patients with yang syndrome were complex syndrome of wind, pathogenic fire, phlegm and qi deficiency, and complex syndrome of wind, pathogenic fire and phlegm. The

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

International Nuclear Information System (INIS)

Gunduz, Yasemin; Asil, Kiyasrttin; Aksoy, Yakup Ersel; Ayhan, Lacin Tatli

2014-01-01

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.

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.

Prevailing of sensitive blood driving to AIDS/HIV. Provincial Blood Bank of Sancti Spíritus. 2007-2008.

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Martha Quesada Concepción

2011-09-01

Full Text Available Because of blood transfusions are one of the ways of transmitting the immune deficiency syndrome (AIDS/HIV; it constitutes warriness from the epidemiological point of view. A descriptive research was done with the objective of determining the prevailing of sensitive blood driving AIDS/HIV in the Provincial Blood Bank from Sancti Spíritus from January 1 st , 2007 to December 31 st, 2008. The sample was conformed by 312 donants with positive diagnosis to AIDS/HIV. Some variables were used such as prevailing, age, sex, race, home town. The scores of higher prevailing to AIDS/HIV were shown by the male sex (4,42, the 26-33 year old group (1,55; it prevailing volunteer blood driving (81,0 % , and Sancti Spíritus municipality gave more cases (27,5% .Just because sensibility to tests based on antibody, that is why it is important the constant checking of all processes that guarantee blood driving to be sired.

Effects of Qiangji Jianli Yin on the hypothalamus CRH contents and plasma ACTH, cortisol levels in rat models of kidney-yang deficiency syndrome

International Nuclear Information System (INIS)

Zhao Hui; Chen Zhixi; Chen Jinyan; Li Zhiqiang; He Zanhou

2007-01-01

Objective: To investigate the effects of qiangji jianli yin on hypothalamus CRH contents and plasma ACTH, Cortisol levels in rat models with kidney-yang deficiency syndrome. Methods: Rat models of kidney-yang deficiency syndrome were prepared with intramuscular injuection of hydroeortisone and divided into 5 groups: (1) no further treatment, n=13 (2) treated with high dosage d qiangji jiandi yin, n=12 (3) treated with medium dosage of qiangji jianli yin, n=12 (4) treated with low dosage of qiangji jianli yin n=12, (5) treated with yougui wan, n=12. Ten rats injuected with intramuscular distilled water only served as controls. The animals were sacrificied 14 days later and the hypothalamus CRH contents as well as plasma AOM and cortisol levels were measured with RIA. The thymus gland weight index and the adrenal gland index were calculated. Results: (1) The hypothalamus CRH contents and plasma ACTH, cortisol levels were significantly lower (P<0.01) in the rat models of kidney-yang deficiency syndrome without any treatment thas those in controls rats; the thymus and adrenal gland weight index were significantly decreased too (P <0.01). The CRH conteats and ACTH, cortisol levels in all the three group of rat model treated with different dosage of qiangji jianli yin were significantly higher than those in the models without any treatment (P<0.05-0.01). Conclusion: In rat models of kidney-yang deficiency syndrome, dysfunction of the hypothalamus-pituitary-adrenal axis (HPAA) led to decreased secretion of related hormones. The HPAA function might be partially restored with administation of qiangji jianli yin. (authors)

Personality traits as predictors of intentions to seek online information about STDs and HIV/AIDS among junior and senior college students in Taiwan.

Science.gov (United States)

Lu, Hung-Yi; Palmgreen, Philip C; Zimmerman, Rick S; Lane, Derek R; Alexander, Linda J

2006-10-01

The purpose of this cross-sectional study is to examine how personality traits such as sensation- seeking and impulsive decision-making affect Taiwanese college students' intentions to seek online information about sexually transmitted diseases (STDs) and human immunodeficiency virus/acquired immune deficiency syndrome (HIV/AIDS). Five hundred thirty-five (n = 535) junior and senior college students in Taiwan were recruited and completed self-report questionnaires. This study found high sensation-seekers were more likely to seek information about STDs and HIV/AIDS on the Internet than low sensation-seekers. Impulsive decision-makers were less likely than rational decision-makers to seek information about STDs and HIV/AIDS on the Internet. These findings suggest that personality needs to be considered as an exploratory factor which potentially influences intentions to seek STD and HIV/AIDS information on the Internet among Taiwanese college students.

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.

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

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A. McKinney

2011-01-01

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

Epidemiology of Acquired Immune Deficiency Syndrome and Cerebrovascular Disease in a Post Antiretroviral Era.

Science.gov (United States)

Kucab, Phillip; Bhattacharya, Pratik

2017-06-01

People with acquired immune deficiency syndrome (AIDS) develop ischemic stroke through distinct mechanisms. These include infections such as syphilis, tuberculosis, varicella, and other conditions such as cocaine abuse, endocarditis, and hypercoagulability. The effect of improved awareness, detection, and treatment with highly active antiretroviral therapy (HAART) on the incidence and outcome of AIDS patients with stroke is unknown. Data from the Nationwide Inpatient Sample from 1995 to 2010 were analyzed. Patients with ischemic stroke and AIDS were identified using ICD-9 (International Classification of Diseases) codes. Time trends for demographics, survival, and frequency of AIDS-associated conditions were analyzed. Proportion of AIDS among stroke patients increased significantly during the study. Median age of all strokes decreased from 75 years in 1995 to 72 years in 2010. Conversely, median age for men with stroke and AIDS increased from 43 years to 53 years; and for women with stroke and AIDS, from 41 years to 51 years. Death rates from stroke in the AIDS patients declined. In recent years, the death rates from stroke are similar to patients without HIV/AIDS. Stroke patients with AIDS had increased odds of syphilis (odds ratio [OR]: 33.50), varicella (OR: 48.34), tuberculosis (OR: 137.48), endocarditis (OR: 5.19), cocaine abuse (OR: 26.05), and hypercoagulability (OR: 4.82). In the HAART era, the median age of incident stroke in AIDS has increased and the mortality from stroke has improved. Research should focus on optimal management of dyslipidemia while on HAART. Whether HAART can reduce the incidence and improve survival of stroke needs to be explored. Copyright © 2017 National Stroke Association. Published by Elsevier Inc. All rights reserved.

(3,4-dihydroisoquinolin-2(1H)-yl)

Indian Academy of Sciences (India)

Administrator

HIV-1 reverse transcriptase (HIV-1 RT); non-nucleoside reverse transcriptase inhibitor. (NNRTI); docking; autodock; 1,2,3,4-tetrahydroisoquinoline. 1. Introduction. Acquired immuno deficiency syndrome (AIDS) is one of the most serious pandemic public health chal- lenges since 1981. 1. Human immuno deficiency virus.

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

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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.

Experiences of lay counsellors who provide VCT for PMTCT of HIV and AIDS in the Capricorn district, Limpopo Province

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R.N. Malema

2009-09-01

Full Text Available Human Immune Deficiency Virus (HIV and Acquired Immune-Deficiency Syndrome (AIDS still carry a stigma in the community. Many people do not know their status and they are still reluctant to be tested including pregnant women despite the fact that Voluntary Counselling and Testing (VCT is offered for free in South Africa. In South Africa VCT for HIV and AIDS is offered by lay counsellors in public hospitals and clinics. The study conducted by Mate, Bennet, Mphatswe, Barker and Rollins (2009:5483 outlined that in South Africa the prevention of mother-to-child transmission (PMTCT of HIV guidelines have raised hope that the national goal of reducing perinatal HIV transmission rates to less than 5% can be attained. A qualitative, exploratory, descriptive and contextual study was conducted in 15 public clinics of the Polokwane Municipality in the Capricorn District, Limpopo Province. The purpose of the study was to determine the experiences of the lay counsellors who provide VCT for the PMTCT of HIV and AIDS in the Capricorn District, Limpopo Province. Data were collected through one-to-one interviews using a semi-structured guide (De Vos et al, 2006:296. The findings of the study reflected the following: the content of training and counselling skills received by lay counsellors were satisfactory, there was lack of counsellor support and in-service education. A program for in-service education and support for all lay counsellors who have had VCT training should be conceptualised and implemented.

Experiences of lay counsellors who provide VCT for PMTCT of HIV and AIDS in the Capricorn district, Limpopo Province

Directory of Open Access Journals (Sweden)

R. N. Malema

2010-06-01

Full Text Available Human Immune Deficiency Virus (HIV and Acquired Immune-Deficiency Syndrome (AIDS still carry a stigma in the community. Many people do not know their status and they are still reluctant to be tested including pregnant women despite the fact that Voluntary Counselling and Testing (VCT is offered for free in South Africa. In South Africa VCT for HIV and AIDS is offered by lay counsellors in public hospitals and clinics. The study conducted by Mate, Bennet, Mphatswe, Barker and Rollins (2009:5483 outlined that in South Africa the prevention of mother-to-child transmission (PMTCT of HIV guidelines have raised hope that the national goal of reducing perinatal HIV transmission rates to less than 5% can be attained. A qualitative, exploratory, descriptive and contextual study was conducted in 15 public clinics of the Polokwane Municipality in the Capricorn District, Limpopo Province. The purpose of the study was to determine the experiences of the lay counsellors who provide VCT for the PMTCT of HIV and AIDS in the Capricorn District, Limpopo Province. Data were collected through one-to-one interviews using a semi-structured guide (De Vos et al, 2006:296. The findings of the study reflected the following: the content of training and counselling skills received by lay counsellors were satisfactory, there was lack of counsellor support and in-service education. A program for in-service education and support for all lay counsellors who have had VCT training should be conceptualised and implemented.

Immune reconstitution inflammatory syndrome in HIV-infected patients with Pneumocystis jirovecii pneumonia.

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Roade Tato, Luisa; Burgos Cibrian, Joaquín; Curran Fábregas, Adrià; Navarro Mercadé, Jordi; Willekens, Rein; Martín Gómez, María Teresa; Ribera Pascuet, Esteban; Falcó Ferrer, Vicenç

2017-11-26

The incidence of immune reconstitution inflammatory syndrome (IRIS) in HIV-infected patients after an episode of Pneumocystis jirovecii pneumonia (PJP) seems to be lower than with other opportunistic infections. We conducted an observational study in order to determine the incidence, clinical characteristics and outcome of patients diagnosed with PJP-related IRIS. We conducted an observational study of HIV patients diagnosed with PJP-related IRIS from January 2000 to November 2015. We analyzed epidemiological and clinical characteristics as well as laboratory findings. We also carried out a systematic review of published cases. Six cases of IRIS out of 123 (4.9%) HIV-infected patients with PJP who started ART were diagnosed. All six cases were men with a median age of 34 (IQR: 8) years. The six patients developed paradoxical IRIS. Subjects younger than 40 years old (p=0.084) and with an HIV-RNA viral load >100000 copies/ml (p=0.081) at diagnosis showed a tendency to develop IRIS. Thirty-seven published cases of PJP-related IRIS were identified. Although 51% of cases involved respiratory failure, no deaths were reported. PJP-related IRIS is rare condition compared to other opportunistic infections. It can lead to a severe respiratory failure in a significant proportion of cases, although no deaths have been reported. Copyright © 2017 Elsevier España, S.L.U. and Sociedad Española de Enfermedades Infecciosas y Microbiología Clínica. All rights reserved.

Efficacy of Tenofovir 1% Vaginal Gel in Reducing the Risk of HIV-1 and HSV-2 Infection

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Christopher McConville

2014-01-01

Full Text Available Human Immunodeficiency Virus (HIV is a retrovirus that can result in rare opportunistic infections occurring in humans. The onset of these infections is known as Acquired Immune Deficiency Syndrome (AIDS. Sexual transmission is responsible for the majority of infections 1, resulting in transmission of HIV due to infected semen or vaginal and cervical secretions containing infected lymphocytes. HIV microbicides are formulations of chemical or biological agents that can be applied to the vagina or rectum with the intention of reducing the acquisition of HIV. Tenofovir is an NRTI that is phosphorylated by adenylate kinase to tenofovir diphosphate, which in turn competes with deoxyadeosine 5′-triphosphate for incorporation into newly synthesized HIV DNA. Once incorporated, tenofovir diphosphate results in chain termination, thus inhibiting viral replication. Tenofovir has been formulated into a range of vaginal formulations, such as rings, tablets gels and films. It has been shown to safe and effective in numerous animal models, while demonstrating safety and acceptability in numerous human trials. The most encouraging results came from the CAPRISA 004 clinical trial which demonstrated that a 1% Tenofovir vaginal gel reduced HIV infection by approximately 39%.

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.

Temporal relation of antigenaemia and loss of antibodies to core antigens to development of clinical disease in HIV infection

DEFF Research Database (Denmark)

Pedersen, C; Nielsen, C M; Vestergaard, B F

1987-01-01

and 16 months after the estimated time of seroconversion. These results show that the late stages of HIV infection are characterised by increased production of antigen and a decrease in antibodies directed against the core protein. Antigenaemia indicates a poor prognosis; and as the antigen test......A total of 276 sequential serum samples from 34 men with antibodies to the human immunodeficiency virus (HIV) followed up for two to seven years were analysed for HIV antigen and antibodies to the viral core and envelope proteins. Results were correlated with clinical outcome and CD4 T lymphocyte...... count. Both antigenaemia and the disappearance of antibodies to the core protein were associated with development of the acquired immune deficiency syndrome (AIDS) or AIDS related complex and depletion of CD4 cells. Thus AIDS or AIDS related complex developed in eight out of 16 patients...

[A pediatric case of HIV who diagnosed by virtue of disseminated cryptococcus infection].

Science.gov (United States)

Acar, Manolya; Sütçü, Murat; Aktürk, Hacer; Hançerli Törün, Selda; Karagöz, Nurinisa; Beka, Hayati; Yekeler, Ensar; Ağaçfidan, Ali; Salman, Nuran; Somer, Ayper

2016-07-01

presented later in life with opportunistic infections. In the case of unusual infectious diseases, in addition to primary immune deficiency syndromes, HIV infection should also be kept in mind. Herein, we discussed a pediatric case with two rare infectious agents reported in our country and wanted to focus on secondary immune deficiency related with pediatric HIV infection.

Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium.

Science.gov (United States)

Bakry, Doua; Aronson, Melyssa; Durno, Carol; Rimawi, Hala; Farah, Roula; Alharbi, Qasim Kholaif; Alharbi, Musa; Shamvil, Ashraf; Ben-Shachar, Shay; Mistry, Matthew; Constantini, Shlomi; Dvir, Rina; Qaddoumi, Ibrahim; Gallinger, Steven; Lerner-Ellis, Jordan; Pollett, Aaron; Stephens, Derek; Kelies, Steve; Chao, Elizabeth; Malkin, David; Bouffet, Eric; Hawkins, Cynthia; Tabori, Uri

2014-03-01

Constitutional mismatch repair deficiency (CMMRD) is a devastating cancer predisposition syndrome for which data regarding clinical manifestations, molecular screening tools and management are limited. We established an international CMMRD consortium and collected comprehensive clinical and genetic data. Molecular diagnosis of tumour and germline biospecimens was performed. A surveillance protocol was developed and implemented. Overall, 22/23 (96%) of children with CMMRD developed 40 different tumours. While childhood CMMRD related tumours were observed in all families, Lynch related tumours in adults were observed in only 2/14 families (p=0.0007). All children with CMMRD had café-au-lait spots and 11/14 came from consanguineous families. Brain tumours were the most common cancers reported (48%) followed by gastrointestinal (32%) and haematological malignancies (15%). Importantly, 12 (30%) of these were low grade and resectable cancers. Tumour immunohistochemistry was 100% sensitive and specific in diagnosing mismatch repair (MMR) deficiency of the corresponding gene while microsatellite instability was neither sensitive nor specific as a diagnostic tool (psyndrome where family history of cancer may not be contributory. Screening tumours and normal tissues using immunohistochemistry for abnormal expression of MMR gene products may help in diagnosis and early implementation of surveillance for these children. Copyright © 2013 Elsevier Ltd. All rights reserved.

Effect of vitamin D deficiency in Korean patients with acute respiratory distress syndrome.

Science.gov (United States)

Park, Sojung; Lee, Min Gi; Hong, Sang-Bum; Lim, Chae-Man; Koh, Younsuck; Huh, Jin Won

2018-06-20

Vitamin D modulates innate and adaptive immune responses, and vitamin D deficiency is associated with increased mortality in hospitalized patients with pneumonia. We evaluated the prevalence of vitamin D deficiency in Korean patients with acute respiratory distress syndrome (ARDS) and its effect on the clinical outcomes of ARDS. We retrospectively analyzed the data of 108 patients who had a measured serum level of 25-hydroxy vitamin D3 (25(OH)D3) at the time of diagnosis with ARDS. The clinical outcomes were evaluated based on 25(OH)D3 levels of 20 ng/mL and stratified by quartiles of 25(OH)D3 levels. The mean age of patients was 59.4 years old; 77 (71.3%) were male. Vitamin D deficiency was found in 103 patients (95.4%). The mean 25(OH)D3 level was 8.3 ± 7.0 ng/mL. Neither in-hospital mortality (40.0% vs. 68.0%) nor 6-month mortality (40.0% vs. 71.8%) significantly differed between groups. There were no significant differences in 25(OH)D3 level between survivors (8.1 ± 7.6 ng/mL) and non-survivors (8.5 ± 6.8 ng/mL, p = 0.765). There were no trends toward a difference in mortality among quartiles of 25(OH)D3 levels. However, 25(OH)D3 levels were inversely related with length of hospital stay and intensive care unit stay among in-hospital survivors. Vitamin D deficiency was prevalent in Korean patients with ARDS. However, levels of vitamin D were not associated with mortality. A large, prospective study is needed to evaluate the effects of vitamin D deficiency on clinical outcomes of ARDS.

Acute development of Cushing syndrome in an HIV-infected child on atazanavir/ritonavir based antiretroviral therapy

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Gueorgui Dubrocq

2017-10-01

Full Text Available An 11-year-old male with perinatally acquired human immune deficiency virus (HIV infection on antiretroviral regimen, which included abacavir plus lamivudine (Epzicom, didanosine, ritonavir and atazanavir presented with bilateral axillary striae, increased appetite, fatigue, facial swelling and acute weight gain. Two months prior to presentation, the patient had received a diagnostic and therapeutic intra-articular triamcinolone injection in the knee for pain relief and subsequently became progressively swollen in the face, developed striae bilaterally at the axillae, experienced increased appetite, fatigue and an 8 pound weight gain. During the endocrine workup, suspicion for adrenal insufficiency prompted 24-h urine collection for free cortisol, which was found to be undetectable (below LLQ of 1.0 μg/L. This prompted further evaluation of the hypothalamic–pituitary axis (HPA by standard dose adrenocorticotropic hormone (ACTH stimulation test. A 250 μg cosyntropin stimulation test was performed and confirmed HPA axis suppression. Baseline cortisol level was <1 μg/dL and stimulated cortisol level at 30 min was 3.8 μg/dL. The patient was diagnosed with iatrogenic Cushing syndrome and suppression of HPA axis secondary to the drug interaction between ritonavir (RTV and intra-articular triamcinolone injection. Following endocrine evaluation and workup, the patient was admitted for planned orthopaedic procedure including elective left hamstring lengthening, distal femoral osteotomy and patellar tendon advancement. Taking into consideration the diagnosis of iatrogenic Cushing syndrome, at the start of the surgical procedure, 100 mg IV stress dose of hydrocortisone followed by 50 mg hydrocortisone every 8 h for 24 h was administered. Stress dosing was discontinued 24 h after the procedure. Throughout the hospitalization and upon discharge, the patient continued his ART. From initial presentation, patient has remained clinically stable throughout

Three molecular pathways model colorectal carcinogenesis in Lynch syndrome.

Science.gov (United States)

Ahadova, Aysel; Gallon, Richard; Gebert, Johannes; Ballhausen, Alexej; Endris, Volker; Kirchner, Martina; Stenzinger, Albrecht; Burn, John; von Knebel Doeberitz, Magnus; Bläker, Hendrik; Kloor, Matthias

2018-07-01

Lynch syndrome is caused by germline mutations of DNA mismatch repair (MMR) genes. MMR deficiency has long been regarded as a secondary event in the pathogenesis of Lynch syndrome colorectal cancers. Recently, this concept has been challenged by the discovery of MMR-deficient crypt foci in the normal mucosa. We aimed to reconstruct colorectal carcinogenesis in Lynch syndrome by collecting molecular and histology evidence from Lynch syndrome adenomas and carcinomas. We determined the frequency of MMR deficiency in adenomas from Lynch syndrome mutation carriers by immunohistochemistry and by systematic literature analysis. To trace back the pathways of pathogenesis, histological growth patterns and mutational signatures were analyzed in Lynch syndrome colorectal cancers. Literature and immunohistochemistry analysis demonstrated MMR deficiency in 491 (76.7%) out of 640 adenomas (95% CI: 73.3% to 79.8%) from Lynch syndrome mutation carriers. Histologically normal MMR-deficient crypts were found directly adjacent to dysplastic adenoma tissue, proving their role as tumor precursors in Lynch syndrome. Accordingly, mutation signature analysis in Lynch colorectal cancers revealed that KRAS and APC mutations commonly occur after the onset of MMR deficiency. Tumors lacking evidence of polypous growth frequently presented with CTNNB1 and TP53 mutations. Our findings demonstrate that Lynch syndrome colorectal cancers can develop through three pathways, with MMR deficiency commonly representing an early and possibly initiating event. This underlines that targeting MMR-deficient cells by chemoprevention or vaccines against MMR deficiency-induced frameshift peptide neoantigens holds promise for tumor prevention in Lynch syndrome. © 2018 UICC.

Factors influencing HIV seroprevalence rate among pregnant ...

African Journals Online (AJOL)

Human immune deficiency virus (HIV) seroprevalence among pregnant women in Calabar was studied. The aims were to establish HIV seroprevalence rate and to identify factors which influence this rate in our pregnant women. HIV seroprevalence rate of 2.7% among antenatal women in Calabar was recorded with a ...

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

Science.gov (United States)

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

2013-10-01

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

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.

Cernunnos/XLF Deficiency: A Syndromic Primary Immunodeficiency

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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.

Dopamine and glucose, obesity and Reward Deficiency Syndrome

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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

Characteristics of foot fractures in HIV-infected patients previously treated with tenofovir versus non-tenofovir-containing highly active antiretroviral therapy

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Horizon AA

2011-06-01

Full Text Available Arash A Horizon1, Robert J Joseph2, Qiming Liao3, Steven T Ross3, Gary E Pakes31Center for Rheumatology, 2Surgical Podiatry, Los Angeles, CA, USA; 3GlaxoSmithKline, Research Triangle Park, NC, USASummary: In a retrospective case series study, medical records were evaluated for all male patients infected with human immunodeficiency virus (HIV diagnosed over a one-year period with foot fractures (n = 30 confirmed by magnetic resonance imaging at a Los Angeles outpatient private practice rheumatology clinic. Proportionally more patients had received tenofovir prefracture (17 [57%] than those who had not (13 [43%]. At fracture diagnosis, these two groups were similar in median age (49 versus 48 years, HIV-1 RNA (both 1.7 log10 copies/mL, CD4 count (300 versus 364/mm3, time between HIV diagnosis and foot fracture (both 17 years, family history of degenerative bone disease (24% versus 23%, prevalence of malabsorption syndrome, renal failure, calcium deficiency, or vitamin D deficiency, and concurrent use of bisphosphonates, calcitonin, and diuretics. However, more tenofovir-treated patients had osteoporosis (35% versus 8%, stress-type fractures (53% versus 31%, concurrent fractures (12% versus 0%, wasting syndrome (29% versus 15%, truncal obesity (18% versus 8%, smoked cigarettes (more than one pack/day for more than one year; 35% versus 8%, dual energy X-ray absorptiometry (DEXA T scores <–2.4 (denoting osteoporosis at the femur (24% versus 9% and spine (47% versus 36%, and had received protease inhibitors (71% versus 46%, non-nucleoside reverse transcriptase inhibitors (24% versus 0%, prednisone (24% versus 0%, testosterone (47% versus 23%, and teriparatide (29% versus 8%. Median time from tenofovir initiation until fracture was 2.57 (range 1.17–5.69 years. In conclusion, more foot fractures were observed in tenofovir-treated patients than in non-tenofovir-treated patients with HIV infection. Comorbidities and/or coadministered drugs may have

Faktor Risiko Kejadian HIV pada Komunitas LSL (Lelaki Seks dengan Lelaki Mitra Yayasan Lantera Minangkabau Sumatera Barat

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Said Firdaus

2013-05-01

Full Text Available HIV (Human Immunodeficiency Virus adalah virus penyebab AIDS (Acquired Immuno Deficiency Syndrome yang menyerang sistem kekebalan tubuh manusia dan melemahkan kemampuan tubuh untuk melawan segala penyakit. Lelaki Seks dengan Lelaki (LSL adalah lelaki heteroseks (tertarik pada perempuan, tetapi juga tertarik kepada lelaki. LSL yang terinfeksi HIV hingga tahun 2011 sebanyak 1.061 kasus dan diperkirakan akan terjadi peningkatan yang signifikan hingga tahun 2025. Di Yayasan Lantera Minangkabau Sumatera Barat tahun 2011, dari 621 LSL yang dibina ditemukan sebanyak 24 orang terinfeksi HIV. Penelitian ini bertujuan untuk mengetahui faktor risiko kejadian HIV pada komunitas LSL (Lelaki Seks dengan Lelaki Mitra Yayasan Lantera Minangkabau Sumatera Barat dengan menggunakan metode survei analitik dan case control. Sampel penelitian adalah 24 kasus dan 24 kontrol. Data dianalisis secara univariat dan bivariat dengan uji chi square dan odds ratio. Hasil penelitian menunjukkan bahwa faktor risiko kejadian HIV pada komunitas LSL adalah perilaku seksual (p=0.009, OR 5.898 dan CI 95% 1.609-20.479, sementara faktor penggunaan narkoba suntik bukan faktor risiko kejadian HIV pada komunitas LSL (p=1.000, OR 1.571 dan CI 95% 0.238-10.365. Diharapkan agar pihak Yayasan meningkatkan komunikasi, informasi dan edukasi (KIE kepada komunitas LSL yang dibina serta penemuan kasus HIV terutama pada populasi kunci.

Laron syndrome (primary growth hormone insensitivity): a unique model to explore the effect of insulin-like growth factor 1 deficiency on human hair.

Science.gov (United States)

Lurie, R; Ben-Amitai, D; Laron, Z

2004-01-01

Classical Laron syndrome is a recessive disease of primary insulin-like growth factor 1 (IGF-1) deficiency and primary growth hormone insensitivity. Affected children have, among other defects, sparse hair growth and frontal recessions. The hair is thin and easy to pluck. Young adults have various degrees of alopecia, more pronounced in males. The aim of the present study was to investigate the effect of primary IGF-1 deficiency on hair structure. The study sample included 11 patients with Laron syndrome--5 children (2 untreated) and 6 adults (5 untreated). Hairs were examined by light and electron microscopy. The most significant structured defect, pili torti et canaliculi, was found in 2 young, untreated patients. Grooving, tapered hair and trichorrhexis nodosa were found in the remainder. IGF-1-treated patients had either none or significantly fewer pathological changes compared to the untreated patients. This is the first documentation of the role of primary IGF-1 deficiency on hair structure in human beings. Copyright 2004 S. Karger AG, Basel

Long-term dietary nitrite and nitrate deficiency causes the metabolic syndrome, endothelial dysfunction and cardiovascular death in mice.

Science.gov (United States)

Kina-Tanada, Mika; Sakanashi, Mayuko; Tanimoto, Akihide; Kaname, Tadashi; Matsuzaki, Toshihiro; Noguchi, Katsuhiko; Uchida, Taro; Nakasone, Junko; Kozuka, Chisayo; Ishida, Masayoshi; Kubota, Haruaki; Taira, Yuji; Totsuka, Yuichi; Kina, Shin-Ichiro; Sunakawa, Hajime; Omura, Junichi; Satoh, Kimio; Shimokawa, Hiroaki; Yanagihara, Nobuyuki; Maeda, Shiro; Ohya, Yusuke; Matsushita, Masayuki; Masuzaki, Hiroaki; Arasaki, Akira; Tsutsui, Masato

2017-06-01

Nitric oxide (NO) is synthesised not only from L-arginine by NO synthases (NOSs), but also from its inert metabolites, nitrite and nitrate. Green leafy vegetables are abundant in nitrate, but whether or not a deficiency in dietary nitrite/nitrate spontaneously causes disease remains to be clarified. In this study, we tested our hypothesis that long-term dietary nitrite/nitrate deficiency would induce the metabolic syndrome in mice. To this end, we prepared a low-nitrite/nitrate diet (LND) consisting of an amino acid-based low-nitrite/nitrate chow, in which the contents of L-arginine, fat, carbohydrates, protein and energy were identical with a regular chow, and potable ultrapure water. Nitrite and nitrate were undetectable in both the chow and the water. Three months of the LND did not affect food or water intake in wild-type C57BL/6J mice compared with a regular diet (RD). However, in comparison with the RD, 3 months of the LND significantly elicited visceral adiposity, dyslipidaemia and glucose intolerance. Eighteen months of the LND significantly provoked increased body weight, hypertension, insulin resistance and impaired endothelium-dependent relaxations to acetylcholine, while 22 months of the LND significantly led to death mainly due to cardiovascular disease, including acute myocardial infarction. These abnormalities were reversed by simultaneous treatment with sodium nitrate, and were significantly associated with endothelial NOS downregulation, adiponectin insufficiency and dysbiosis of the gut microbiota. These results provide the first evidence that long-term dietary nitrite/nitrate deficiency gives rise to the metabolic syndrome, endothelial dysfunction and cardiovascular death in mice, indicating a novel pathogenetic role of the exogenous NO production system in the metabolic syndrome and its vascular complications.

Neurological complications of HIV/AIDS in childhood

African Journals Online (AJOL)

2011-04-02

Apr 2, 2011 ... deficiency disease (AIDS) contribute significantly to the morbidity of HIV ... directly related to HIV-1 brain infection (primary disorders such ..... Attention deficits are probably related to the ... hyperactivity disorder (ADHD) (21%),.

Buddhism, the status of women and the spread of HIV/AIDS in Thailand.

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Klunklin, Areewan; Greenwood, Jennifer

2005-01-01

The common-sense construction of Buddhism is that of a general power for good; the less positive aspects of Buddhism's power, especially when reinforced by folklore and ancient superstition, is infrequently recognised. In this article we make explicit Buddhism's less positive power, particularly as it relates to the status of women and, by implication, its role in the human immunodeficiency (HIV)/acquired immune deficiency syndrome (AIDS) epidemic in Thailand. The Buddhist, folklore, and superstitious bases of Thai misogyny are explored, together with its expression in the differential gender roles of women and men. In addition, the attitudes of both women and men to commercial sex workers (CSWs) and condom use is discussed. The implications of these attitudinal analyses to the epidemiology of HIV/AIDS in Thailand is outlined. We argue that the current spread of HIV/AIDS in Thailand is primarily a function of the inferior status of women, which, in turn, is a function of Buddhism and Thai cultural beliefs. In light of this, some realistic strategies to address the problem also are discussed.

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.

Genetics Home Reference: Sjögren-Larsson syndrome

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... Email Facebook Twitter Home Health Conditions Sjögren-Larsson syndrome Sjögren-Larsson syndrome Printable PDF Open All Close All ... FALDH deficiency fatty aldehyde dehydrogenase deficiency ichthyosis oligophrenia syndrome Sjogren-Larsson syndrome SLS Related Information How are genetic ...

An evaluation of the prevalence of HIV/AIDS on selected economies of sub-Saharan Africa

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Raji Abdulghafar Bello

2012-10-01

Full Text Available Human immunodeficiency syndrome (HIV whose full-blown period is called acquired immunity deficiency syndrome (AIDS is today a terminal disease. While one weakens the body hormones, the other comes to claim the life with its accompanying opportunistic diseases. Several factors have been reviewed to be causing the infection and its prevalence as well as its socio-economic, scientific and cultural dimensions. The cost implication of this ailment is enormous when considered from individual, national or global perspective, especially when the cost of treatment and the cost of the disability adjusted life years (DALYs lost to incapacitation from HIV/AIDS is considered. This study has investigated the financial implications of treatment and the DALYs lost to HIV/AIDS from the perspective of sub-Saharan Africa covering thirty-five countries. Infected population of age 15-49 years were considered, being the active life year age group. Applying Morrow’s DALYs measurement, and Ainsworth’s per capita general rule method of costing HIV/AIDS, it was found that the cost of treatment of HIV/AIDS in any country depends on her economic strength on the one hand and the size of the infected population on the other, to the extent that no country spends or loses less than 3 percent of her national income on treatment and to DALYs. To any country, the financial cost of the DALYs lost to HIV/AIDS is much more than the cost of treatment per episode, mostly huge enough to develop a sector of the country’s economy. However, a single recommendation could be difficult as individual countries experience different effect, but different countries must pursue long-run anti-prevalence policies individually and as economic region or bloc.

HIV-associated vasculopathy

African Journals Online (AJOL)

Third World countries. HIV has brought an array of new clinical presentations and has also generated new syndromes.4. HIV vasculopathy was first described as an entity in 19875 and may ..... The EGF pathway is also implicated in cancer, which suggests that anticancer drugs that interfere with this pathway might increase.

[History and the development of the studies on HIV and AIDS].

Science.gov (United States)

Rogala, Maciej

2011-01-01

The article describes the progress of medical knowledge which has been observed since the finding and discovery of the first case of the immune deficiency syndrome in the world in 1981. During this period the methods of diagnosis and treatment of HIV/AIDS has changed significantly. The progress in this area of examinations which is presently achieved allows unambiguous diagnosis of the virus and the disease. The recognition of the pathogenesis of the HIV and AIDS enabled the beginning of the studies on the medicines having antiretroviral properties. The utilization of the potential of the currently used medicines inhibits the progress of the disease and, in consequence, the elongation of the patients' life span. However, despite excessive clinical experiments in numerous research centres world-wide, until now there has not been found an effective medicine which could totally eradicate this virus from the body nor the vaccine which could prevent the further spread of this virus in the world.

The Kenny syndrome, a rare type of growth deficiency with tubular stenosis, transient hypoparathyroidism and anomalies of refraction.

Science.gov (United States)

Majewski, F; Rosendahl, W; Ranke, M; Nolte, K

1981-03-01

One family (3 cases) with the Kenny syndrome and a second family (3 cases) with features of Kenny syndrome but lacking medullary stenosis are reported. The main symptoms in both families are proportionate dwarfism, cortical thickening of tubular bones, variable anomalies of the calvaria, anemia, transient hypoparathyroidism and variable ocular anomalies. The latter include microphthalmia, and moderate-to-severe myopia or hyperopia. In the first family there was medullary stenosis of most tubular bones. In the second family two cases exhibited mild-to-moderate cortical thickening of tubular bones, but absent or mild medullary stenosis. Possible variability of the Kenny syndrome is discussed. Endocrine studies failed to demonstrate any permanent disturbance of parathormone or calcitonin metabolism, or GH deficiency. Pathogenesis remains unclear. Autosomal dominant inheritance seems to be likely.

Prevalence of Creatine Deficiency Syndromes in Children With Nonsyndromic Autism.

Science.gov (United States)

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

2016-01-01

Creatine deficiency may play a role in the neurobiology of autism and may represent a treatable cause of autism. The goal of the study was to ascertain the prevalence of creatine deficiency syndromes (CDSs) in children with autism spectrum disorder (ASD). In a prospective multicenter study, 443 children were investigated after a confirmed diagnosis of ASD. Random spot urine screening for creatine metabolites (creatine, guanidinoacetate, creatinine, and arginine) with liquid chromatography-tandem mass spectrometry and second-tier testing with high-performance liquid chromatography methodology was followed by recall testing in 24-hour urines and confirmatory testing by Sanger-based DNA sequencing of GAMT, GATM, and SLC6A8 genes. Additional diagnostic tests included plasma creatine metabolites and in vivo brain proton magnetic resonance spectroscopy. The creatine metabolites in spot urine in the autism group were compared with 128 healthy controls controlled for age. In 443 subjects with ASD investigated for CDS, we had 0 events (event: 0, 95% confidence interval 0-0.0068), therefore with 95% confidence the prevalence of CDS is creatine metabolites (P > .0125) in urine. Our study revealed a very low prevalence of CDS in children with nonsyndromic ASD and no obvious association between creatine metabolites and autism. Unlike our study population, we expect more frequent CDS among children with severe developmental delay, speech impairment, seizures, and movement disorders in addition to impairments in social communication, restricted interests, and repetitive behaviors. Copyright © 2016 by the American Academy of Pediatrics.

Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome.

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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.

Dilemma of concepts and strategies for the prevention of spread of HIV in relation to human behavior, law and human rights

Science.gov (United States)

Dennin, Reinhard H.; Lafrenz, Michael; Sinn, Arndt; Li, Lan-juan

2011-01-01

The new prevalence data regarding the estimated global number of human immunodeficiency virus positive (HIV+) cases, i.e., including people who are either aware or unaware of their HIV infection in 2010, lead many to wonder why the increase in incidence has reached today’s unprecedented level and escalated within such a short time. This, in spite of prevention campaigns in countries affected by HIV/acquired immune deficiency syndrome (AIDS) with their urgent messages aimed at preventing HIV transmission by promoting changes in individual’s behavior. This article analyzes the background of the prevention strategies, in particular their political, social and legal concepts in terms of human rights, and reveals traits of human behavior not considered thus far. A radical reappraisal is necessary, at social and legislative levels, as well as options additional to current concepts. When ethical issues come up, they become blamed for outmoded moralistic positions. However, ignoring the reality has led to dire consequences from prioritizing individual human rights over society’s collective need to prevent the spread of HIV. PMID:21726067

Effect of the Prevalence of HIV/AIDS and the Life Expectancy Rate on Economic Growth in SSA Countries: Difference GMM Approach.

Science.gov (United States)

Waziri, Salisu Ibrahim; Mohamed Nor, Norashidah; Raja Abdullah, Nik Mustapha; Adamu, Peter

2015-09-01

The productivity of countries around the globe is adversely affected by the health-related problems of their labour force. This study examined the effect of the prevalence of human immunodeficiency virus/acquired immune deficiency syndrome (HIV/AIDS) and life expectancy on the economic growth of 33 Sub-Saharan African (SSA) countries over a period of 11 years (2002-2012). The study employed a dynamic panel approach as opposed to the static traditional approach utilised in the literature. The dynamic approach became eminent because of the fact that HIV/AIDS is a dynamic variable as its prevalence today depends on the previous years. The result revealed that HIV/AIDS is negatively correlated with economic growth in the region, with a coefficient of 0.014, and significant at the 1% level. That is, a 10% increase in HIV/AIDS prevalence leads to a 0.14% decrease in the GDP of the region. Tackling HIV/AIDS is therefore imperative to the developing Sub-Saharan African region and all hands must be on deck to end the menace globally.

Neurological complication in HIV patients

Science.gov (United States)

Ritarwan, K.

2018-03-01

Human Immunodeficiency Virus (HIV) is neurotropic and immunotropic, making themassive destruction of both systems. Although their amount has been reduced, there is still neurological presentations and complications of HIV remain common in the era of combination antiretroviral therapy (cART). Neurological opportunistic infections (OI) occur in advanced HIV diseases such as primary cerebral lymphoma, cryptococcal meningitis, cerebral toxoplasmosis, and progressive multifocal encephalopathy. Neurological problem directly related to HIV appear at any stage in the progress of HIV disease, from AIDS-associated dementia to the aseptic meningitis of primary HIV infection observed in subjects with an immune deficiency. The replication of peripheral HIV viral is able to be controlled in the era of effective antiretroviral therapy. Non-HIV-related neurological disease such as stroke increased important as the HIV population ages.

Zinc status in HIV infected Ugandan children aged 1-5 years: a cross sectional baseline survey

Directory of Open Access Journals (Sweden)

Ndugwa Christopher M

2010-09-01

Full Text Available Abstract Background Low concentrations of serum zinc have been reported in HIV infected adults and are associated with disease progression and an increased risk of death. Few studies have been conducted in HIV infected children in Africa. We determined serum zinc levels and factors associated with zinc deficiency in HIV infected Ugandan children. Methods We measured the baseline zinc status of 247 children aged 1-5 years enrolled in a randomised trial for multiple micronutrient supplementation at paediatric HIV clinics in Uganda (http://ClinicalTrials.gov NCT00122941. Zinc status was determined using inductively coupled atomic emission spectrophotometry (ICP-AES. Clinical and laboratory characteristics were compared among zinc deficient (zinc Results Of the 247 children, 134 (54.3% had low serum zinc ( Conclusion Almost two thirds of HAART naïve and a third of HAART treated HIV infected children were zinc deficient. Increased access to HAART among HIV infected children living in Uganda might reduce the prevalence of zinc deficiency.

Male circumcision as strategy for HIV prevention and sexually transmitted diseases. The potential role of traditional birth attendants in neonatal male circumcision.

Science.gov (United States)

Dini, Catia

2010-01-01

In developing countries, it would be advisable to give priority to human immunodeficiency virus (HIV) prevention strategies, because of the high mortality caused by the rapid spread of the pandemic. Furthermore, HIV prevention could contribute to the mitigation of tuberculosis (TB) propagation, which is tightly correlated to acquired immune deficiency syndrome (AIDS). As demonstrated, male circumcision (MC) confers protection against HIV and sexually transmitted diseases (STD). The suggested strategy considers the neonatal MC advantageous, since it is safer, feasible, culturally more acceptable and less costly than adult MC. This approach is based on the assumption that, if newborn males are circumcised, within the next 15-20 years the sexually active population will be almost entirely circumcised and, consequently, the HIV transmission will be reduced. The employment of retrained traditional birth attendants is considered in order to implement the MC after the child birth and to facilitate its acceptance in those contexts where it is not traditionally performed.

Male circumcision as strategy for HIV prevention and sexually transmitted diseases: the potential role of traditional birth attendants in neonatal male circumcision

Directory of Open Access Journals (Sweden)

Catia Dini

2010-12-01

Full Text Available In developing countries, it would be advisable to give priority to human immunodeficiency virus (HIV prevention strategies, because of the high mortality caused by the rapid spread of the pandemic. Furthermore, HIV prevention could contribute to the mitigation of tuberculosis (TB propagation, which is tightly correlated to acquired immune deficiency syndrome (AIDS. As demonstrated, male circumcision (MC confers protection against HIV and sexually transmitted diseases (STD. The suggested strategy considers the neonatal MC advantageous, since it is safer, feasible, culturally more acceptable and less costly than adult MC. This approach is based on the assumption that, if newborn males are circumcised, within the next 15-20 years the sexually active population will be almost entirely circumcised and, consequently, the HIV transmission will be reduced. The employment of retrained traditional birth attendants is considered in order to implement the MC after the child birth and to facilitate its acceptance in those contexts where it is not traditionally performed.

Deficient Circumferential Growth Is the Primary Determinant of Aortic Obstruction Attributable to Partial Elastin Deficiency.

Science.gov (United States)

Jiao, Yang; Li, Guangxin; Korneva, Arina; Caulk, Alexander W; Qin, Lingfeng; Bersi, Matthew R; Li, Qingle; Li, Wei; Mecham, Robert P; Humphrey, Jay D; Tellides, George

2017-05-01

Williams syndrome is characterized by obstructive aortopathy attributable to heterozygous loss of ELN , the gene encoding elastin. Lesions are thought to result primarily from excessive smooth muscle cell (SMC) proliferation and consequent medial expansion, although an initially smaller caliber and increased stiffness of the aorta may contribute to luminal narrowing. The relative contributions of such abnormalities to the obstructive phenotype had not been defined. We quantified determinants of luminal stenosis in thoracic aortas of Eln -/- mice incompletely rescued by human ELN . Moderate obstruction was largely because of deficient circumferential growth, most prominently of ascending segments, despite increased axial growth. Medial thickening was evident in these smaller diameter elastin-deficient aortas, with medial area similar to that of larger diameter control aortas. There was no difference in cross-sectional SMC number between mutant and wild-type genotypes at multiple stages of postnatal development. Decreased elastin content was associated with medial fibrosis and reduced aortic distensibility because of increased structural stiffness but preserved material stiffness. Elastin-deficient SMCs exhibited greater contractile-to-proliferative phenotypic modulation in vitro than in vivo. We confirmed increased medial collagen without evidence of increased medial area or SMC number in a small ascending aorta with thickened media of a Williams syndrome subject. Deficient circumferential growth is the predominant mechanism for moderate obstructive aortic disease resulting from partial elastin deficiency. Our findings suggest that diverse aortic manifestations in Williams syndrome result from graded elastin content, and SMC hyperplasia causing medial expansion requires additional elastin loss superimposed on ELN haploinsufficiency. © 2017 American Heart Association, Inc.

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

Science.gov (United States)

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

2016-03-16

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

Converging risk factors but no association between HIV infection and multidrug-resistant tuberculosis in Kazakhstan.

Science.gov (United States)

van den Hof, S; Tursynbayeva, A; Abildaev, T; Adenov, M; Pak, S; Bekembayeva, G; Ismailov, S

2013-04-01

Kazakhstan is a country with a low HIV/AIDS (human immunodeficiency virus/acquired immune-deficiency syndrome) burden, but a high prevalence of multidrug-resistant tuberculosis (MDR-TB). We describe the epidemiology of multidrug resistance and HIV among TB patients, using the 2007-2011 national electronic TB register. HIV test results were available for 97.2% of TB patients. HIV prevalence among TB patients increased from 0.6% in 2007 to 1.5% in 2011. Overall, 41.6% of patients had a positive smear at diagnosis, 38.6% a positive culture and 51.7% either a positive smear or culture. Drug susceptibility testing (DST) results were available for 92.7% of culture-positive cases. Socio-economic factors independently associated with both HIV and MDR-TB were urban residency, drug use, homelessness and a history of incarceration. In adjusted analysis, HIV positivity was not associated with MDR-TB (OR 1.0, 95%CI 0.86-1.2). Overall, among TB patients with DST and HIV test results available, 65.0% were positive for neither HIV nor MDR-TB, 33.5% only for MDR-TB, 0.9% only for HIV and 0.6% for both HIV and MDR-TB. Among injection drug users, 12.5% were positive for HIV and MDR-TB. We showed increasing HIV prevalence among TB patients in Kazakhstan. HIV was not an independent risk factor for MDR-TB, but risk factors were largely overlapping and we did identify subgroups at particular risk of HIV-MDR-TB co-infection, notably drug users. Enhanced efforts are necessary to provide care to these socially vulnerable populations.

[Constitutional mismatch repair-deficiency syndrome (CMMR-D) - a case report of a family with biallelic MSH6 mutation].

Science.gov (United States)

Ilenčíková, D

2012-01-01

This work gives comprehensive information about new recessively inherited syndrome characterized by development of childhood malignancies. Behind this new described syndrome, called Constitutional mismatch repair-deficiency syndrome (CMMR-D), there are biallelic mutations in genes, which cause adult cancer syndrom termed Lynch syndrom (Hereditary non-polyposis cancer syndrom-HNPCC) if they are heterozygous mutations. Biallelic germline mutations of genes MLH1, MSH2, MSH6 and PMS2 in CMMR-D are characterized by increased risk of hematological malignancies, atypical brain tumors and early onset of colorectal cancers. An accompanying manifestation of the disease are skin spots with diffuse margins and irregular pigmentation reminiscent of Café au lait spots of NF1. This paper reports a case of a family with CMMR-D caused by novel homozygous MSH6 mutations leading to gliomatosis cerebri, T-ALL in an 11-year-old female and glioblastoma multiforme in her 10-year-old brother, both with rapid progression of the diseases. A literature review of brain tumors in CMMR-D families shows that they are treatment-resistant and lead to early death. Therefore, this work highlights the importance of early identification of patients with CMMR-D syndrome - in terms of initiation of a screening program for early detection of malignancies as well as early surgical intervention.

Iron-Deficiency Anemia

Medline Plus

Full Text Available ... starch. Restless legs syndrome Shortness of breath Weakness Complications Undiagnosed or untreated iron-deficiency anemia may cause ... as complete blood count and iron studies. Prevent complications over your lifetime To prevent complications from iron- ...

Epidemiology of SHOX deficiency.

Science.gov (United States)

Nicolosi, A; Caruso-Nicoletti, M

2010-06-01

Deletion of short stature homeobox-containing (SHOX) gene, in the pseudoautosomal region (PAR1) of X and Y chromosomes, is an important cause of short stature. Homozygous loss of SHOX results in the more severe Langer mesomelic dysplasia, while SHOX haploinsufficiency cause a wide spectrum of short stature phenotypes, including patients with Turner syndrome, Leri Weill dyschondrosteosis (LWD), and idiopathic short stature (ISS). In Turner syndrome, haploinsufficiency of SHOX gene, as well as short stature, are present in 100%; nevertheless, SHOX deficiency accounts for only two-thirds of Turner patients' short stature. In LWD the prevalence of SHOX gene anomalies varies from 56% to 100%. This wide range might be due to different factors such as selection criteria of patients, sample size, and method used for screening SHOX mutations. The real challenge is to establish the prevalence of SHOX deficiency in ISS children given that published studies have reported this association with a very broad frequency range varying from 1.5% to 15%. An important variable in these studies is represented by the method used for screening SHOX mutations and sometimes by differences in patient selection. Short stature is present by definition in 3 out of 100 subjects; if we consider a frequency of SHOX defects of 3% among ISS, we should expect a population prevalence of 1 in 1000. This prevalence would be higher than that of GH deficiency (1:3,500) and of Turner syndrome (1:2,500 females), suggesting that SHOX deficiency could be one of the most frequent monogenetic causes of short stature.

[Effects and mechanism of Angelicae Sinensis Radix on Th1/Th2 and Th17/Treg in mice with asthma and Yin deficiency syndrome].

Science.gov (United States)

Ma, Ting-Ting; Feng, Xing-Zhong; Wang, Xue-Yan

2017-02-01

Angelicae Sinensis Radix, with nourishing Yin, promoting blood circulation, and moisturizing dryness functions, is commonly used in clinical medicine. In order to investigate the effects and mechanism of Angelica sinensis(AS) on Th1/Th2 and Th17/Treg in mice with asthma and Yin deficiency syndrome, asthmatic and Yin deficiency syndrome Balb/c mice models were established by injecting and inhaling ovalbumin(OVA) and thyroxin. The models were treated with dexamethasone(DXM), AS extract and AS extract+DXM, respectively. Pathological examination of lung tissues was conducted by HE staining, and ELISA was used to detect the levels of IL-4, IL-17, IFN-γ, TGF-β as well as retinoic acid receptor-related orphan receptor (RORγt). Results showed that AS could significantly improve the situation of inflammation infiltration, increase ratios of IFN-γ/IL-4 and TGF-β/IL-17, decrease the levels of RORγt in lung tissues. The AS+DXM group showed a best treatment effect. The results indicated that AS played a therapeutic role for asthma with Yin deficiency syndrome and improved airway inflammation by inhibiting the expression of RORγt in lung tissues and regulating the balance of Th1/Th2 and Th17/Treg. Copyright© by the Chinese Pharmaceutical Association.

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 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.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.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.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. Accurate and affordable rapid-point-of-care tests

Immune Recovery Syndrome in the HIV-positive patient: Radiological Findings of Paradoxical Reactions

International Nuclear Information System (INIS)

Martinez, E.; Sanchez, M. A.; Torres, M.; Benito, J.; Avila, A.

2004-01-01

To describe immune recovery syndrome (IRS) and related radiological findings in HIV-positive patients. To alert radiologists to the ever-increasingly frequent appearance of paradoxical reactions (PR) in granulomatous diseases under antiretroviral treatment. We present a retrospective study of 9 adult HIV-positive patients who showed IRS, 6 cases of tuberculosis (TBC), 2 cases of atypical mycobacterium and a case of sarcoidosis. At the time of IRS/PR diagnosis, any suspicion of infectious activity was excluded through the use of appropriate microbiological tests. clinical and radiological characteristics of the above mentioned cases are analyze here. All patients experienced a clinical and/or radiological worsening of condition following variable periods of antiretroviral and/or anti-tuberculosis treatment, and coinciding with viral load decrease and CD4-T-lymphocyte recovery. Diagnosis of IRS/PR was clinical in five cases and radiological in four. In all but one case, antiretroviral treatment had at some time been previously administered. IRS/PR is a diagnosis of exclusion which must be included in the differential diagnosis of newly appearing lesions or worsening of already existing ones in HIV-positive patients that have recently begun antiretroviral and/or anti-tuberculosis treatment. Such should be done after excluding drug resistance, treatment non-adherence and intercurrent disease. (Author) 8 refs

Genetics Home Reference: gray platelet syndrome

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... disorder, platelet-type, 4 deficient alpha granule syndrome GPS grey platelet syndrome platelet alpha-granule deficiency platelet ... on PubMed Central Kahr WH, Hinckley J, Li L, Schwertz H, Christensen H, Rowley JW, Pluthero FG, ...

Kager's fat pad inflammation associated with HIV infection and AIDS: MRI findings

International Nuclear Information System (INIS)

Godoy-Santos, Alexandre Leme; Fernandes, Tulio Diniz; Camanho, Gilberto Luis; Bordalo-Rodrigues, Marcelo; Rosemberg, Laercio; Lei Munhoz Lima, Ana Lucia; Maffulli, Nicola

2014-01-01

To describe magnetic resonance imaging (MRI) features of Kager's fat pad inflammation in HIV-positive patients with lipodystrophy due to protease inhibitor treatment and posterior ankle pain. A case-control, cross-sectional study; group 1 included 14 HIV-positive patients using protease inhibitors, presenting lipodystrophy syndrome and having posterior ankle pain; group 2 (CGHIV-) included 112 HIV-negative patients without lipodystrophy syndrome who were being evaluated for posterior ankle pain; group 3 (CGHIV + 1) included 23 HIV-positive patients not using a protease inhibitor, without lipodystrophy syndrome and with posterior ankle pain; group 4 (CGHIV + 2) comprised 18 HIV-positive patients who were being treated with a protease inhibitor and had lipodystrophy syndrome but did not have posterior ankle pain. Images were evaluated for the presence of edema by two radiologists who were blinded to clinical features. Fisher's exact test was used to evaluate differences among the groups. Interobserver variation was tested using Cohen's kappa (κ) statistic. The presence of edema within Kager's fat pad was strongly associated with symptoms in HIV-positive patients who had lipodystrophy (p ≤ 0.0001). Concordance between observers was excellent (κ > 0.9). MRI findings of Kager's fat pad inflammation related to HIV/AIDS is a source of symptoms in HIV patients with posterior ankle pain using protease inhibitors and having lipodystrophy syndrome. (orig.)

TARGETING THE SEMEN DERIVED AMYLOIDS TO CONTROL HIV TRANSMISSION: PERSPECTIVES AND CHALLENGE

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Shalini Gour

2016-03-01

Full Text Available Since the discovery of Acquired Immuno Deficiency Syndrome (AIDS in 1981 in United States, there have been tremendous efforts to reduce the rate of HIV transmission. Although, the epidemic is stabilized in most of the affected regions, its occurrence is reasonably evident in Eastern Europe and Central Asia due to high rate of new HIV infections. It is surprising to know that despite the high rate of infection, the virus is a weak pathogen. This paradox has been answered by a recent discovery stating that human semen contains a proteinaceous factor derived from prostatic acid phosphatase (PAP, which is commonly known as PAP248-286 peptide, plays an important role in enhancing the HIV infectivity. It forms well-defined amyloid structure, frequently referred as Semen-derived Enhancer of Viral Infection (SEVI and enhances HIV infection up to 1,00,000 fold. Serendipitous discovery of this semen derived amyloid has provided an opportunity to design an alternative approach to dismantle the mechanism of HIV infection. It is a need of the hour to search and design novel molecules and compounds that can help in destabilizing SEVI under natural conditions. In this direction, a number of molecules have been identified that have shown promising results under laboratory conditions. However, there are several critical issues that remain untouched and their addressal is highly recommended in order to develop an effective regime to control the HIV transmission via sexual route. This review is an effort to consolidate major challenges in developing a therapeutic strategy against semen derived amyloids to combat HIV transmission.

Wernicke’s Encephalopathy: An Unusual Consequence of the Acquired Immune Deficiency Syndrome—Case Report and Literature Review

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Timothy R. Larsen

2013-01-01

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

Peripheral kynurenine-3-monooxygenase deficiency as a potential risk factor for metabolic syndrome in schizophrenia patients.

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Oxenkrug, Gregory; van der Hart, Marieke; Roeser, Julien; Summergrad, Paul

2017-01-01

Increased predisposition of schizophrenia patients (SP) to development of obesity and insulin resistance suggested common signaling pathway between metabolic syndrome (MetS) and schizophrenia. Deficiency of kynurenine-3-monooxygenase (KMO), enzyme catalyzing formation of 3-hydroxykynurenine (3-HK) from kynurenine (Kyn), a tryptophan (Trp) metabolite, might contribute to development of MetS as suggested by non-expression of KMO genes in human fat tissue and elevated serum concentrations of Kyn and its metabolites, kynurenic (KYNA) and anthranilic (ANA) acids, in diabetic patients and Zucker fatty rats (ZFR). Markers of KMO deficiency: decreased 3-HK and elevated Kyn, KYNA and ANA, were observed in brains and spinal fluids of SP, and in brains and serum of experimental animals with genetically- or pharmacologically-induced KMO deficiency. However, elevated concentrations of ANA and decreased 3-HK were reported in serum of SP without concurrent increase of Kyn and KYNA. Present study aimed to re-assess serum Kyn metabolites (HPLC-MS) in a sub-group of SP with elevated KYNA. We found increased Kyn concentrations (by 30%) and Kyn:Trp ratio (by 20%) in serum of SP with elevated KYNA concentrations (by 40%). Obtained results and our previous data suggest that peripheral KMO deficiency might be manifested by, at least, two different patterns: elevated ANA with decreased 3-HK; and elevated KYNA and KYN. The latter pattern was previously described in type 2 diabetes patients and might underline increased predisposition of SP to development of MetS. Assessment of peripheral KMO deficiency might identify SP predisposed to MetS. Attenuation of the consequences of peripheral KMO deficiency might be a new target for prevention/treatment of obesity and diabetes in SP.

Gastrointestinal and urinary tract pathogenic infections among HIV seropositive patients at the Komfo Anokye Teaching Hospital in Ghana.

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Boaitey, Yaw Agyekum; Nkrumah, Bernard; Idriss, Ali; Tay, Samuel Crowther Kofi

2012-08-21

Gastrointestinal and urinary tract pathogenic infections are aggravating the incidence and progression of the Human Immunodeficiency Virus (HIV) infection into Acquired Immune Deficiency Syndrome (AIDS) more especially in the developing countries. This study was conducted to assess the common gastrointestinal and urinary infections among HIV/AIDS patients at the Komfo Anokye Teaching Hospital (KATH) in Ghana between April and December 2008. This work reports on gastrointestinal and urinary tract pathogenic infections among 500 HIV seropositive and 300 HIV seronegative patients. There was a 35% (175/500) prevalence of intestinal parasites among HIV seropositive patients compared to 4.3% (13/300) in HIV seronegative patients. Giardia lamblia and Cryptosporidium accounted for 19% (95/500) and 14% (70/500) respectively, while Schistosoma mansoni, Strongyloides stercoralis and hookworm together accounted for 2% (10/500) of intestinal parasitic infections among the HIV seropositive patients. There was no significant difference (p > 0.05) in urinary parasitic infection between HIV seropositive 1% (2/500) and seronegative patients 0.7% (2/300). Most, 60 (86%) out of 70, of the urinary tract infection among the HIV seropositive patients was due to bacteria with E. coli being the most predominant isolate, 28 (47%) out of 60. There was no significant difference in infections based on age and gender. G. lamblia and Cryptosporidium were the most common gastrointestinal parasites detected while bacteria accounted for majority of the urinary tract infections among the HIV seropositive patients at the hospital.

High prevalence of HIV-1 CRF01_AE viruses among female commercial sex workers residing in Surabaya, Indonesia.

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Kotaki, Tomohiro; Khairunisa, Siti Qamariyah; Sukartiningrum, Septhia Dwi; Arfijanto, M Vitanata; Utsumi, Takako; Normalina, Irine; Handajani, Retno; Widiyanti, Prihartini; Rusli, Musofa; Rahayu, Retno Pudji; Lusida, Maria Inge; Hayashi, Yoshitake; Nasronudin; Kameoka, Masanori

2013-01-01

Human immunodeficiency virus (HIV) infection and acquired immune deficiency syndrome (AIDS) cause serious health problems and have an impact on the Indonesian economy. In addition, the rapid epidemic growth of HIV is continuing in Indonesia. Commercial sex plays a significant role in the spread of HIV; therefore, in order to reveal the current HIV prevalence rate among commercial sex workers (CSWs), we conducted an epidemiological study on HIV infection among CSWs residing in Surabaya, the capital of East Java province of Indonesia with large communities of CSWs. The prevalence of HIV infection among 200 CSWs was studied. In addition, the subtype of HIV type 1 (HIV-1) and the prevalence of other blood-borne viruses, hepatitis B virus (HBV), hepatitis C virus (HCV) and GB virus C (GBV-C), were studied. The prevalence rates of HIV, hepatitis B core antibody, hepatitis B surface antigen, anti-HCV antibodies and anti-GBV-C antibodies were 11%, 64%, 4%, 0.5% and 0% among CSWs involved in this study, respectively. HIV-1 CRF01_AE viral gene fragments were detected in most HIV-positive samples. In addition, most CSWs showed low awareness of sexually transmitted diseases and had unprotected sex with their clients. The HIV prevalence rate among CSWs was significantly higher than that among the general population in Indonesia (0.2-0.4%). In addition, CSWs were at a high risk of exposure to HBV, although chronic HBV infection was less frequently established. Our results suggest the necessity of efficient prevention programs for HIV and other blood-borne viral infections among CSWs in Surabaya, Indonesia.

Chest radiographs in acquired antibody deficiency syndrome with chronic granulomatous inflammation

International Nuclear Information System (INIS)

Qaiyumi, S.A.A.; Peest, D.; Galanski, M.; Medizinische Hochschule Hannover

1990-01-01

Ten cases of acquired antibody deficiency syndrome with chronic granulomatous infection were diagnosed in our hospital during the past 10 years. We were able to perform a retrospective analysis of the initial and follow-up chest radiographs in 8 of these patients. The following pathological findings could be demonstrated: 1. increased bronchovascular markings in the basal lung fields, 2. reticular densities in the middle and basal lung fields, 3. confluent nodular densities of varying size in the periphery of the basal and middle fields, 4. pulmonary infiltrates in the middle and lower lobes, 5. hilar node enlargement of moderate extent. Findings 2, 3 and 5 completely disappeared under steroid therapy whereas 1 showed only partial recovery. If both the radiologic and serologic findings are considered, it is possible to differentiate this disease from sarcoidosis. (orig.) [de

Immune reconstitution inflammatory syndrome after initiating highly active antiretroviral therapy in HIV-infected children

International Nuclear Information System (INIS)

Kilborn, Tracy; Zampoli, Marco

2009-01-01

The outcome of HIV infection has improved since the widespread availability of highly active antiretroviral therapy (HAART). Some patients, however, develop a clinical and radiological deterioration following initiation of HAART due to either the unmasking of occult subclinical infection or an enhanced inflammatory response to a treated infection. This phenomenon is believed to result from the restored ability to mount an immune response and is termed immune reconstitution inflammatory syndrome (IRIS) or immune reconstitution disease. IRIS is widely reported in the literature in adult patients, most commonly associated with mycobacterial infections. There is, however, a paucity of data documenting the radiological findings of IRIS in children. Radiologists need to be aware of this entity. As a diagnosis of exclusion it is essential that the radiological findings be assessed in the context of the clinical presentation. This article reviews the common clinical and radiological manifestations of IRIS in HIV-infected children. (orig.)

Endocrine alterations in HIV-infected patients

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Sujit Kumar Tripathy

2015-01-01

Full Text Available Aims and objectives: To study the frequency of thyroid, adrenal and gonadal dysfunction in newly diagnosed HIV-infected patients and to correlate them at different levels of CD4 cell counts. Materials and Methods: Forty-three HIV-positive cases were included in the study group. Cases were divided into three groups on the basis of CD4 cell count. Serum free T3, free T4, TSH, Cortisol, FSH, LH, testosterone and estradiol were estimated by the radioimmunoassay method. Hormone levels between cases were compared and their correlation with CD4 count was analyzed. Results: Prevalence of gonadal dysfunction (88.3% was the most common endocrine dysfunction followed by thyroid (60.4% and adrenal dysfunction (27.9%. Secondary hypogonadism (68.4% was more common than primary (31.6%. Low T3 syndrome, that is, isolated low free T3, was the most common (25.6% thyroid dysfunction followed by secondary hypothyroidism (16.2% and subclinical hypothyroidism (11.6%. Adrenal excess (16.3% was more common than adrenal insufficiency (11.6%. The difference in hormonal dysfunction between male and female was statistically insignificant (P > 0.05. 27.9% of patients had multiple hormone deficiency. There was negligible or no correlation between CD4 count and serum hormone level. Conclusion: In our study, endocrine dysfunction was quite common among HIV-infected patients but there was no correlation between hormone levels and CD4 count. Endocrine dysfunctions and role of hormone replacement therapy in HIV-infected patient needs to be substantiated by large longitudinal study, so that it will help to reduce morbidity, improve quality of life.

Mommy, Daddy--What's AIDS?

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

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

Illicit drug use and HIV risk in the Dominican Republic: tourism areas create drug use opportunities.

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Guilamo-Ramos, Vincent; Lee, Jane J; Ruiz, Yumary; Hagan, Holly; Delva, Marlyn; Quiñones, Zahira; Kamler, Alexandra; Robles, Gabriel

2015-01-01

While the Caribbean has the second highest global human immunodeficiency virus (HIV) prevalence, insufficient attention has been paid to contributing factors of the region's elevated risk. Largely neglected is the potential role of drugs in shaping the Caribbean HIV/acquired immune deficiency syndrome epidemic. Caribbean studies have almost exclusively focused on drug transportation and seldom acknowledged local user economies and drug-related health and social welfare consequences. While tourism is consistently implicated within the Caribbean HIV epidemic, less is known about the intersection of drugs and tourism. Tourism areas represent distinct ecologies of risk often characterised by sex work, alcohol consumption and population mixing between lower and higher risk groups. Limited understanding of availability and usage of drugs in countries such as the Dominican Republic (DR), the Caribbean country with the greatest tourist rates, presents barriers to HIV prevention. This study addresses this gap by conducting in-depth interviews with 30 drug users in Sosúa, a major sex tourism destination of the DR. A two-step qualitative data analysis process was utilised and interview transcripts were systematically coded using a well-defined thematic codebook. Results suggest three themes: (1) local demand shifts drug routes to tourism areas, (2) drugs shape local economies and (3) drug use facilitates HIV risk behaviours in tourism areas.

Knowledge and attitudes about HIV/AIDS in illegal residents in the Kingdom of Saudi Arabia

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Ziad A Memish

2015-01-01

Full Text Available Objectives: To study the knowledge, attitudes, and practices with regard to human immunodeficiency virus infection / acquired immune deficiency syndrome (HIV/AIDS in illegal residents, in the Kingdom of Saudi Arabia (KSA. Materials and Methods: A questionnaire study was conducted among the illegal residents from four regions in Saudi Arabia: Jeddah, Makkah, Riyadh, and Jazan. Results: The survey enrolled 5,000 participants, 79%male (39.6% from Jeddah; 20% from Riyadh; and 20% from Jazan, aged between 15 and 45 years. Of the total, 1288 (25.8% had not heard about HIV/AIDS. Knowledge of HIV transmission was poor in 90% of the respondents. Of the total, 737 had read about HIV/AIDS materials and 649 participants had been previously tested for HIV. The majority of participants (85% held a negative attitude toward people living with HIV/AIDS. Those who were knowledgeable about HIV/AIDS expressed more a positive attitude. One-fifth (968, majority were men; single 55%, married 45% had engaged in non-marital sexual activity. The largest proportion of the individuals who had engaged in non-marital sex were single (54.9% followed by the married ones (40.4%. Men cited pleasure as the main reason for such activity (84.6%, whereas women (73.4% cited financial gain. Of the respondents, 53.9 and 32.1% believed that TV and schools were the best media through which information with regard to HIV/AIDS could be imparted. Conclusions: Knowledge of HIV/AIDS, its mode of transmission, and prevention measures was poor. Educational programs specifically targeted toward this group were required.

Clinicopathological comparison of colorectal and endometrial carcinomas in patients with Lynch-like syndrome versus patients with Lynch syndrome.

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Mas-Moya, Jenny; Dudley, Beth; Brand, Randall E; Thull, Darcy; Bahary, Nathan; Nikiforova, Marina N; Pai, Reetesh K

2015-11-01

Screening for DNA mismatch repair (MMR) deficiency in colorectal and endometrial carcinomas identifies patients at risk for Lynch syndrome. Some patients with MMR-deficient tumors have no evidence of a germline mutation and have been described as having Lynch-like syndrome. We compared the clinicopathological features of colorectal and endometrial carcinomas in patients with Lynch-like syndrome and Lynch syndrome. Universal screening identified 356 (10.6%) of 3352 patients with colorectal carcinoma and 72 (33%) of 215 patients with endometrial carcinoma with deficient DNA MMR. Sixty-six patients underwent germline mutation analysis with 45 patients (68%) having evidence of a germline MMR gene mutation confirming Lynch syndrome and 21 patients (32%) having Lynch-like syndrome with no evidence of a germline mutation. Most patients with Lynch-like syndrome had carcinoma involving the right colon compared to patients with Lynch syndrome (93% versus 45%; P Lynch syndrome confirmed by germline mutation analysis. Synchronous or metachronous Lynch syndrome-associated carcinoma was more frequently identified in patients with Lynch syndrome compared to Lynch-like syndrome (38% versus 7%; P = .04). There were no significant differences in clinicopathological variables between patients with Lynch-like syndrome and Lynch syndrome with endometrial carcinoma. In summary, 32% of patients with MMR deficiency concerning Lynch syndrome will have Lynch-like syndrome. Our results demonstrate that patients with Lynch-like syndrome are more likely to have right-sided colorectal carcinoma, less likely to have synchronous or metachronous Lynch syndrome-associated carcinoma, and less likely to demonstrate isolated loss of MSH6 expression within their tumor. Copyright © 2015 Elsevier Inc. All rights reserved.

"Sikker sex" blandt hiv-smittede heteroseksuelle par

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Weis, N M; Skinnes, L; Vesterdal, B

1999-01-01

To investigate the use of condoms ("safe sex") as prevention of transmission with human immuno deficiency virus (hiv) among heterosexual couples, 57 hiv-positive heterosexual patients and their partners if there was one interviewed. Forty-three of the 57 patients were heterosexually infected. Five...

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

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

2015-06-01

Here we report a patient with 11p15.4p15.5 duplication and 13q34 deletion presenting with Beckwith-Wiedemann syndrome (BWS) and moderate deficiency of factor VII (FVII). The duplication was initially diagnosed on methylation-sensitive multiplex ligation-dependent probe amplification. Array comparative genome hybridization confirmed its presence and indicated a 13q34 distal deletion. The patient's clinical symptoms, including developmental delay and facial dysmorphism, were typical of BWS with paternal 11p15 trisomy. Partial 13q monosomy in this patient is associated with moderate deficiency of FVII and may also overlap with a few symptoms of paternal 11p15 trisomy such as developmental delay and some facial features. To our knowledge this is the first report of 11p15.4p15.5 duplication associated with deletion of 13q34 and FVII deficiency. Moreover, this report emphasizes the importance of detailed clinical as well as molecular examinations in patients with BWS features and developmental delay. © 2015 Japan Pediatric Society.

CD4 descriptions at various clinical HIV/AIDS stages with tuberculosis and non-tuberculosis opportunistic infections at dr. Zainoel Abidin hospital in Banda Aceh, Indonesia

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Shaleh, A. S.; Fahrial; Siregar, M. L.; Jamil, K. F.

2018-03-01

Human Immunodeficiency Virus (HIV) / Acquired Immune Deficiency Syndrome (AIDS) is a retrovirus that infects the human immune system. Damaged immunity in HIV/AIDS patients is marked by a decline in CD4 cells. Opportunistic infections appear differently, depending on the levels of immunosuppressive degrees, and the frequency of opportunistic infections in the environment. This study aims to describe the CD4 at various clinical stages of HIV/AIDS with tuberculosis and non-tuberculosis opportunistic infections (OI). Descriptive study with a cross-sectional design. This study is secondary data obtained from the medical records of patients with HIV/AIDS in the period of January 2011 - December 2015 at dr. Zainoel Abidin Hospital in Banda Aceh. The samples that met the inclusion criteria were 135 people with 63 cases were tuberculosis OI, 33 cases were non-tuberculosis and 39 cases were without OI. The study showed CD4 tuberculosis OI and 93.9% for non-tuberculosis OI.

Focus on the therapeutic efficacy of 3BNC117 against HIV-1: In vitro studies, in vivo studies, clinical trials and challenges.

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Liu, Zhi-Jun; Bai, Jing; Liu, Feng-Li; Zhang, Xiang-Yang; Wang, Jing-Zhang

2017-11-01

3BNC117, which was discovered in 2011, is a broadly neutralizing antibody (bNAb) and specifically neutralizes the human immunodeficiency virus type-1 (HIV-1) by targeting the CD4-binding site. This is the first comprehensive review that focuses on the role of 3BNC117 in the prevention of HIV-1 and acquired immune deficiency syndrome (AIDS). Briefly, 3BNC117 neutralizes many HIV/SHIV strains in vitro, blocks HIV-1 acquisition in animal models via a pre-exposure prophylaxis, alleviates HIV-1-associated viremia via a post-exposure therapeutic effect, prevents the establishment of latent HIV-1 reservoirs, and induces both humoral and cellular anti-HIV immune responses in vivo. The outcomes of Phase I and Phase IIa clinical trials in 2015 and 2016 showed the safety, tolerability, and therapeutic efficacy of 3BNC117 in HIV-1-infected human individuals. Nevertheless, anti-3BNC117 antibodies and HIV-1 strains resistant to 3BNC117 pose clinical challenges to immunotherapy with 3BNC117, so potential strategies for optimizing the potency of 3BNC117 are suggested here. Predictably, HIV-1 prevention and AIDS treatment will benefit from combinational immunotherapies with 3BNC117 and other pharmaceuticals (bNAbs, antiretroviral medicines, viral inducers, etc.) in the near future. Copyright © 2017 Elsevier B.V. All rights reserved.

Gastrointestinal immune responses in HIV infected subjects

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LRR Castello-Branco

1996-06-01

Full Text Available The gut associated lymphoid tissue is responsible for specific responses to intestinal antigens. During HIV infection, mucosal immune deficiency may account for the gastrointestinal infections. In this review we describe the humoral and cellular mucosal immune responses in normal and HIV-infected subjects.

Expression of human immunodeficiency virus in cerebrospinal fluid of children with progressive encephalopathy

NARCIS (Netherlands)

Epstein, L. G.; Goudsmit, J.; Paul, D. A.; Morrison, S. H.; Connor, E. M.; Oleske, J. M.; Holland, B.

1987-01-01

The retrovirus that causes acquired immune deficiency syndrome (AIDS) is now designated the human immunodeficiency virus (HIV). The cerebrospinal fluid (CSF) of 27 children with HIV infection was assayed for intra-blood-brain barrier (IBBB) synthesis of HIV-specific antibodies and for the presence

Severe Vitamin D Deficiency in Human Immunodeficiency Virus-Infected Pregnant Women is Associated with Preterm Birth.

Science.gov (United States)

Jao, Jennifer; Freimanis, Laura; Mussi-Pinhata, Marisa M; Cohen, Rachel A; Monteiro, Jacqueline Pontes; Cruz, Maria Leticia; Branch, Andrea; Sperling, Rhoda S; Siberry, George K

2017-04-01

Background  Low maternal vitamin D has been associated with preterm birth (PTB). Human immunodeficiency virus (HIV)-infected pregnant women are at risk for PTB, but data on maternal vitamin D and PTB in this population are scarce. Methods  In a cohort of Latin American HIV-infected pregnant women from the National Institute of Child Health and Human Development International Site Development Initiative protocol, we examined the association between maternal vitamin D status and PTB. Vitamin D status was defined as the following 25-hydroxyvitamin D levels: severe deficiency (PTBs = 36 weeks [interquartile range: 34-36]). In multivariate analysis, severe vitamin D deficiency was associated with PTB (odds ratio = 4.7, 95% confidence interval: 1.3-16.8]). Conclusion  Severe maternal vitamin D deficiency is associated with PTB in HIV-infected Latin American pregnant women. Further studies are warranted to determine if vitamin D supplementation in HIV-infected women may impact PTB. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

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....

Zinc Deficiency‐Like Syndrome in Fleckvieh Calves: Clinical and Pathological Findings and Differentiation from Bovine Hereditary Zinc Deficiency

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Jung, S.; Majzoub‐Altweck, M.; Trefz, F.M.; Seifert, C.; Knubben‐Schweizer, G.; Fries, R.; Hermanns, W.; Gollnick, N.S.

2018-01-01

Background Zinc deficiency‐like (ZDL) syndrome is an inherited defect of Fleckvieh calves, with striking similarity to bovine hereditary zinc deficiency (BHZD). However, the causative mutation in a phospholipase D4 encoding gene (PLD4) shows no connection to zinc metabolism. Objectives To describe clinical signs, laboratory variables, and pathological findings of ZDL syndrome and their utility to differentiate ZDL from BHZD and infectious diseases with similar phenotype. Animals Nine hospitalized calves with crusting dermatitis and confirmed mutation in PLD4 and medical records from 25 calves with crusting dermatitis or suspected zinc deficiency. Methods Prospective and retrospective case series. Results The 9 calves (age: 5–53 weeks) displayed a moderate to severe crusting dermatitis mainly on the head, ventrum, and joints. Respiratory and digestive tract inflammations were frequently observed. Zinc supplementation did not lead to remission of clinical signs in 4 calves. Laboratory variables revealed slight anemia in 8 calves, hypoalbuminemia in 6 calves, but reduced serum zinc concentrations in only 3 calves. Mucosal erosions/ulcerations were present in 7 calves and thymus atrophy or reduced thymic weights in 8 calves. Histologically, skin lesions were indistinguishable from BHZD. Retrospective analysis of medical records revealed the presence of this phenotype since 1988 and pedigree analysis revealed a common ancestor of several affected calves. Conclusions and Clinical Importance ZDL syndrome should be suspected in Fleckvieh calves with crusting dermatitis together with diarrhea or respiratory tract inflammations without response to oral zinc supplementation. Definite diagnosis requires molecular genetic confirmation of the PLD4 mutation. PMID:29424482

Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (L-CHAD) deficiency in a patient with the Bannayan-Riley-Ruvalcaba syndrome.

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Fryburg, J S; Pelegano, J P; Bennett, M J; Bebin, E M

1994-08-01

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is an autosomal dominant condition of macrocephaly in combination with lipomas/hemangiomas, hypotonia, developmental delay, and a lipid myopathy. The etiology of the lipid storage myopathy has been unclear. We describe a black boy with findings of BRRS who also has a defect in long-chain fatty acid oxidation expressed in cultured skin fibroblasts as a deficiency of long-chain-L-3-hydroxyacyl-CoA dehydrogenase (L-CHAD). He also has an abnormal brain MRI and increased size of both lower limbs. We present this child because of his unusual combination of findings, and postulate that L-CHAD deficiency may be the cause of the lipid myopathy in BRRS.

Causes of death in hospitalised HIV-infected patients at a National Referral Centre in Singapore: a retrospective review from 2008 to 2010.

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Wong, Chen Seong; Lo, Francis A; Cavailler, Philippe; Ng, Oon Tek; Lee, Cheng Chuan; Leo, Yee Sin; Chua, Arlene C

2012-12-01

Highly active antiretroviral therapy (HAART) has improved outcomes for individuals infected with human immunodeficiency virus (HIV). This study describes the causes of death in hospitalised HIV-positive patients from 2008 to 2010 in Tan Tock Seng Hospital, the national referral centre for HIV management in Singapore. Data were retrospectively collected from HIV-positive patients who died in Tan Tock Seng Hospital from January 2008 to December 2010. Sixty-seven deaths occurred in the study period. A majority of patients died of non-acquired immune deficiency syndrome (AIDS)-defining illnesses (54.7%). The median CD4 count was 39.5 (range, 20.0 to 97.0), and 7 patients had HIV viral loads of <200 copies/mL. There were 27 deaths due to opportunistic infections, 27 due to non AIDS-defining infections, 4 due to non AIDS-associated malignancies. This study also describes 3 deaths due to cardiovascular events, and 1 due to hepatic failure. Patients who had virologic suppression were more likely to die from non AIDS-defining causes. Causes of death in HIV-positive patients have changed in the HAART era. More research is required to further understand and address barriers to testing and treatment to further improve outcomes in HIV/AIDS.

[Intervention effects of Zuoguiwan containing serum on osteoblast through ERK1/2 and Wnt/β-catenin signaling pathway in models with kidney-Yang-deficiency, kidney-Yin-deficiency osteoporosis syndromes].

Science.gov (United States)

Zhang, Jian-Hua; Xin, Jing; Fan, Lian-Xia; Yin, Hua

2017-10-01

To clarify the effects of Zuoguiwan containing serum on osteoblast proliferation and alkaline phosphatase(ALP) expression and its effects on the expression of β-catenin, ERK1, ERK2 mRNA and protein of osteoblast through ERK1/2, Wnt/β-catenin signaling pathway in models with osteoporosis(OP) kidney-Yang-deficiency, osteoporosis(OP) kidney-Yin-deficiency syndrome. Rat osteoporosis models were established by ovariectomy surgery, and 10 weeks after surgery, hydrocortisone was injected and thyroxine was administered by intragastric administration to establish OP kidney-Yang-deficiency rat model, and OP kidney-Yin-deficiency rat model. Osteoblasts were obtained from 24 h newborn rat skull and were identified by alkaline phosphatase and alizarin red staining. Zuoguiwan containing serum of OP, OP kidney-Yang-deficiency, and OP kidney-Yin-deficiency, as well as the blank serum were used to intervene the osteoblast, and the cells proliferation was detected by MTS. ELISA assay was used to detect ALP expression. RT-PCR assay was used to detect the mRNA expression of ERK1, ERK2, β-catenin and protein expression levels were detected by Western blot. The results showed that Zuoguiwan containing serum in OP kidney-Yin-deficiency model had stronger effect than OP kidney-Yang-deficiency in promoting osteoblast proliferation, ALP expression, osteoblast ERK1/2, Wnt/β-catenin signaling pathway related factors β-catenin, ERK1, ERK2 mRNA and protein expression levels. This was consistent with the TCM theory of "Zuoguiwan nourishes kidney Yin", providing a scientific basis for the clinical and dialectical treatment of osteoporosis. Zuoguiwan could regulate the proliferation and differentiation of bone cells by ERK1/2 and Wnt/β-catenin signaling pathway, which may be one of the mechanisms of Zuoguiwan for the prevention of osteoporosis. Copyright© by the Chinese Pharmaceutical Association.

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

Glial TNFα in the spinal cord regulates neuropathic pain induced by HIV gp120 application in rats

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Ouyang Handong

2011-05-01

Full Text Available Abstract Background HIV-associated sensory neuropathy (HIV-SN is one of the most common forms of peripheral neuropathy, affecting about 30% of people with acquired immune deficiency syndrome (AIDS. The symptoms of HIV-SN are dominated by neuropathic pain. Glia activation in the spinal cord has become an attractive target for attenuating chronic pain. This study will investigate the role of spinal TNFα released from glia in HIV-related neuropathic pain. Results Peripheral gp120 application into the rat sciatic nerve induced mechanical allodynia for more than 7 weeks, and upregulated the expression of spinal TNFα in the mRNA and the protein levels at 2 weeks after gp120 application. Spinal TNFα was colocalized with GFAP (a marker of astrocytes and Iba1 (a marker of microglia in immunostaining, suggesting that glia produce TNFα in the spinal cord in this model. Peripheral gp120 application also increased TNFα in the L4/5 DRG. Furthermore, intrathecal administration of TNFα siRNA or soluble TNF receptor reduced gp120 application-induced mechanical allodynia. Conclusions Our results indicate that TNFα in the spinal cord and the DRG are involved in neuropathic pain, following the peripheral HIV gp120 application, and that blockade of the glial product TNFα reverses neuropathic pain induced by HIV gp120 application.

Human endogenous retrovirus K Gag coassembles with HIV-1 Gag and reduces the release efficiency and infectivity of HIV-1.

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Monde, Kazuaki; Contreras-Galindo, Rafael; Kaplan, Mark H; Markovitz, David M; Ono, Akira

2012-10-01

Human endogenous retroviruses (HERVs), which are remnants of ancestral retroviruses integrated into the human genome, are defective in viral replication. Because activation of HERV-K and coexpression of this virus with HIV-1 have been observed during HIV-1 infection, it is conceivable that HERV-K could affect HIV-1 replication, either by competition or by cooperation, in cells expressing both viruses. In this study, we found that the release efficiency of HIV-1 Gag was 3-fold reduced upon overexpression of HERV-K(CON) Gag. In addition, we observed that in cells expressing Gag proteins of both viruses, HERV-K(CON) Gag colocalized with HIV-1 Gag at the plasma membrane. Furthermore, HERV-K(CON) Gag was found to coassemble with HIV-1 Gag, as demonstrated by (i) processing of HERV-K(CON) Gag by HIV-1 protease in virions, (ii) coimmunoprecipitation of virion-associated HERV-K(CON) Gag with HIV-1 Gag, and (iii) rescue of a late-domain-defective HERV-K(CON) Gag by wild-type (WT) HIV-1 Gag. Myristylation-deficient HERV-K(CON) Gag localized to nuclei, suggesting cryptic nuclear trafficking of HERV-K Gag. Notably, unlike WT HERV-K(CON) Gag, HIV-1 Gag failed to rescue myristylation-deficient HERV-K(CON) Gag to the plasma membrane. Efficient colocalization and coassembly of HIV-1 Gag and HERV-K Gag also required nucleocapsid (NC). These results provide evidence that HIV-1 Gag heteromultimerizes with HERV-K Gag at the plasma membrane, presumably through NC-RNA interaction. Intriguingly, HERV-K Gag overexpression reduced not only HIV-1 release efficiency but also HIV-1 infectivity in a myristylation- and NC-dependent manner. Altogether, these results indicate that Gag proteins of endogenous retroviruses can coassemble with HIV-1 Gag and modulate the late phase of HIV-1 replication.

High quantity but limited quality in healthcare applications intended for HIV-infected patients.

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Robustillo Cortés, María de las Aguas; Cantudo Cuenca, María Rosa; Morillo Verdugo, Ramón; Calvo Cidoncha, Elena

2014-08-01

The aim of this study was to evaluate, through the creation of a specific questionnaire, the information quality in mobile applications (apps) aimed at human immunodeficiency virus (HIV)-infected patients. We also established a quality rating and identified the main strengths and weaknesses of this kind of health app. Smartphone apps specifically related to HIV/acquired immunodeficiency syndrome (AIDS) were searched. We conducted a key word search with the terms "HIV," "AIDS," and "acquired immune deficiency syndrome" in the Apple™ (Cupertino, CA) App Store and the Android™ Google™ (Mountain View, CA) Play Store. A questionnaire was developed based on the different quality recommendations for health apps up to December 2012. The recommendations consulted were as follows: the Happtique Health App Certification Program, the Food and Drug Administration (Mobile Medical Applications), and recommendations for the design, use, and evaluation of health apps of the Agency of Health Quality in Andalusia. A group of 17 experts assessed the importance of the different sections by using a Delphi method. In total, 41 health apps were analyzed. Only one app (2.4%), called in Practice HIV, approached class A. The remaining were classed as follows: 2 (4.9%) class B, 1 (2.4%) class C, 5 (12.2%) class D and E, and 27 (65.9%) class F (not exceeding minimum criteria). The design and the relevance were highlighted among the strengths. The main areas for improvement are provision of services and confidentiality in addition to privacy policies. The quality of the revised apps is limited. Only one app complied with the excellence criteria, and over 50% of the apps did not exceed minimum quality standards. The worst rated aspects were political advertising and logical security.

Kager's fat pad inflammation associated with HIV infection and AIDS: MRI findings

Energy Technology Data Exchange (ETDEWEB)

Godoy-Santos, Alexandre Leme; Fernandes, Tulio Diniz; Camanho, Gilberto Luis [University of Sao Paulo, Department of Orthopedic Surgery, Sao Paulo, SP (Brazil); Bordalo-Rodrigues, Marcelo; Rosemberg, Laercio [University of Sao Paulo, Department of Radiology, Sao Paulo (Brazil); Lei Munhoz Lima, Ana Lucia [University of Sao Paulo, Department of Infectious Disease, Sao Paulo (Brazil); Maffulli, Nicola [Mile End Hospital, Centre for Sports and Exercise Medicine Barts and The London School of Medicine and Dentistry, London (United Kingdom)

2014-09-15

To describe magnetic resonance imaging (MRI) features of Kager's fat pad inflammation in HIV-positive patients with lipodystrophy due to protease inhibitor treatment and posterior ankle pain. A case-control, cross-sectional study; group 1 included 14 HIV-positive patients using protease inhibitors, presenting lipodystrophy syndrome and having posterior ankle pain; group 2 (CGHIV-) included 112 HIV-negative patients without lipodystrophy syndrome who were being evaluated for posterior ankle pain; group 3 (CGHIV + 1) included 23 HIV-positive patients not using a protease inhibitor, without lipodystrophy syndrome and with posterior ankle pain; group 4 (CGHIV + 2) comprised 18 HIV-positive patients who were being treated with a protease inhibitor and had lipodystrophy syndrome but did not have posterior ankle pain. Images were evaluated for the presence of edema by two radiologists who were blinded to clinical features. Fisher's exact test was used to evaluate differences among the groups. Interobserver variation was tested using Cohen's kappa (κ) statistic. The presence of edema within Kager's fat pad was strongly associated with symptoms in HIV-positive patients who had lipodystrophy (p ≤ 0.0001). Concordance between observers was excellent (κ > 0.9). MRI findings of Kager's fat pad inflammation related to HIV/AIDS is a source of symptoms in HIV patients with posterior ankle pain using protease inhibitors and having lipodystrophy syndrome. (orig.)

Evaluation of Cellular Phenotypes Implicated in Immunopathogenesis and Monitoring Immune Reconstitution Inflammatory Syndrome in HIV/Leprosy Cases

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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 (pleprosy individuals at risk for IRIS/RR. So, a comparative investigation to leprosy patients at RR should be conducted. PMID:22205964

[Refeeding syndrome: practical issues].

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Buzzi, M; Limonta, A; Pichard, C; Stirnemann, J

2015-10-14

The refeeding syndrome is frequent and potentially deadly, still it is underdiagnosed. It is defined by clinical and biological manifestations that are seen upon refeeding of malnourished patients. It is the consequence of the transition from catabolism to anabolism. Ions intracellular shift caused by insulin and B1 vitamin deficiency are fundamental in the development of this syndrome. Riskconditions are well summarized by the NICE criteria. To avoid refeeding syndrome, it is fundamental to find and correct any electrolytic deficiency and to give thiamine before starting a slow and progressive oral, enteral or parenteral refeeding.

Human immunodeficiency virus infection and acquired immune deficiency syndrome vulnerability of men who have sex with men in a border area of West Bengal, India

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Dibakar Haldar

2015-01-01

Full Text Available Background: Studying level of living, awareness about sexually transmitted infections (STIs including human immunodeficiency virus infection and acquired immune deficiency syndrome (HIV/AIDS and sex behavior of men who have sex with men (MSMs is prerequisite for control of increasing AIDS among them in India. Objective: To assess sociodemographics, awareness about STIs including AIDS, and find out the pattern of high risk sex behavior of MSM. Methodology: Cross-sectional survey was undertaken in May, 2012 among MSMs catered by T I program via Nongovernmental Organization "Madhya Banglar Sangram" in Murshidabad District. 62 MSMs were included from five cruising spots sampled randomly out of fourteen such. Information was collected via interview and focused group discussions (FGD using questionnaire and FGD guide. Blood samples were examined for VDRL reactivity. Results: Median age was 25 years and sexual debut at 13.67 ± 4.29 years. 87% respondents were residing in parental house, 20% was married, 40% had low education, 80.33% had additional jobs but 54% reported poor income. About 56% respondents knew "what is AIDS" and its spread via anal sex, mother to child transmission, needle sharing, sex worker, and blood transfusion reported by 52.46, 50.82, 47.54, 45.90, and 34.43%, respectively. More than 2/3rd, about 40 and 34.43% MSMs played "anal and oral receptive," "anal insertive" and "oral insertive" role. About 33% used condom regularly. Majority knew main symptoms of STIs. About 2/3rd reported discrimination by neighbors. Blood examination showed 6.45% VDRL reactivity. Conclusion: Reducing vulnerability of MSMs to HIV/AIDS requires holistic programs.

Molecular role of dopamine in anhedonia linked to reward deficiency syndrome (RDS) and anti- reward systems.

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Gold, Mark S; Blum, Kenneth; Febo, Marcelo; Baron, David; Modestino, Edward Justin; Elman, Igor; Badgaiyan, Rajendra D

2018-03-01

Anhedonia is a condition that leads to the loss of feelings pleasure in response to natural reinforcers like food, sex, exercise, and social activities. This disorder occurs in addiction, and an array of related neuropsychiatric syndromes, including schizophrenia, depression, and Post Traumatic Stress Disorder (PTSD). Anhedonia may by due to derangements in mesolimbic dopaminergic pathways and their terminal fields (e.g., striatum, amygdala, and prefrontal cortex) that persist long after the traces of the causative drugs are eliminated (pharmacokinetically). Here we postulate that anhedonia is not a distinct entity but is rather an epiphenomenon of hypodopaminergic states and traits arising from the interaction of genetic traits and epigenetic neurobiological alterations in response to environmental influences. Moreover, dopaminergic activity is rather complex, and so it may give rise to differential pathophysiological processes such as incentive sensitization, aberrant learning and stress-like "anti-reward" phenomena. These processes may have additive, synergistic or antagonistic interactions with the concurrent reward deficiency states leading in some instances to more severe and long-lasting symptoms. Operant understanding of the neurogenetic antecedents to reward deficiency syndrome (RDS) and the elucidation of reward gene polymorphisms may provide a map for accessing an individual's genetic risk for developing Anhedonia. Prevention techniques that can restore homeostatic balance via physiological activation of dopaminergic receptors (D2/D3) may be instrumental for targeting not only anhedonia per se but also drug craving and relapse.

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.

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

International Nuclear Information System (INIS)

Nash, R.; Shojania, A.M.

1987-01-01

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

The development of AIDS or AIDS-related conditions in a cohort of HIV antibody-positive homosexual men during a 3-year follow-up period

DEFF Research Database (Denmark)

Pedersen, C; Kolby, P; Sindrup, J

1989-01-01

One hundred and thirty-three homosexual men seropositive for the antibody against human immunodeficiency virus (HIV) were enrolled in a prospective study in 1984-85. The 3-year cumulative incidences of the acquired immunodeficiency syndrome (AIDS) and AIDS-related conditions, by life-table analyses...... with the development of AIDS. There was no association between disease progression and persistent generalized lymphadenopathy. When adjusted to the probable year of infection, these results are in accordance with previous cohort studies. It is concluded that most, or all, subjects seropositive for HIV will develop......, were 18% and 34%. The cumulative incidence of immune deficiency defined as CD4 lymphocytes less than 0.5 x 10(9) l-1 was 70% at 3 years. Absence of antibodies to p24 antigen, HIV antigenaemia, CD4 lymphocytes less than 0.3 x 10 l-1 and elevated serum level of IgA were significantly associated...

High prevalence of HIV-1 CRF01_AE viruses among female commercial sex workers residing in Surabaya, Indonesia.

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Tomohiro Kotaki

Full Text Available Human immunodeficiency virus (HIV infection and acquired immune deficiency syndrome (AIDS cause serious health problems and have an impact on the Indonesian economy. In addition, the rapid epidemic growth of HIV is continuing in Indonesia. Commercial sex plays a significant role in the spread of HIV; therefore, in order to reveal the current HIV prevalence rate among commercial sex workers (CSWs, we conducted an epidemiological study on HIV infection among CSWs residing in Surabaya, the capital of East Java province of Indonesia with large communities of CSWs.The prevalence of HIV infection among 200 CSWs was studied. In addition, the subtype of HIV type 1 (HIV-1 and the prevalence of other blood-borne viruses, hepatitis B virus (HBV, hepatitis C virus (HCV and GB virus C (GBV-C, were studied. The prevalence rates of HIV, hepatitis B core antibody, hepatitis B surface antigen, anti-HCV antibodies and anti-GBV-C antibodies were 11%, 64%, 4%, 0.5% and 0% among CSWs involved in this study, respectively. HIV-1 CRF01_AE viral gene fragments were detected in most HIV-positive samples. In addition, most CSWs showed low awareness of sexually transmitted diseases and had unprotected sex with their clients.The HIV prevalence rate among CSWs was significantly higher than that among the general population in Indonesia (0.2-0.4%. In addition, CSWs were at a high risk of exposure to HBV, although chronic HBV infection was less frequently established. Our results suggest the necessity of efficient prevention programs for HIV and other blood-borne viral infections among CSWs in Surabaya, Indonesia.

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

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Bodo, Sahra; Colas, Chrystelle; Buhard, Olivier; Collura, Ada; Tinat, Julie; Lavoine, Noémie; Guilloux, Agathe; Chalastanis, Alexandra; Lafitte, Philippe; Coulet, Florence; Buisine, Marie-Pierre; Ilencikova, Denisa; Ruiz-Ponte, Clara; Kinzel, Miriam; Grandjouan, Sophie; Brems, Hilde; Lejeune, Sophie; Blanché, Hélène; Wang, Qing; Caron, Olivier; Cabaret, Odile; Svrcek, Magali; Vidaud, Dominique; Parfait, Béatrice; Verloes, Alain; Knappe, Ulrich J; Soubrier, Florent; Mortemousque, Isabelle; Leis, Alexander; Auclair-Perrossier, Jessie; Frébourg, Thierry; Fléjou, Jean-François; Entz-Werle, Natacha; Leclerc, Julie; Malka, David; Cohen-Haguenauer, Odile; Goldberg, Yael; Gerdes, Anne-Marie; Fedhila, Faten; Mathieu-Dramard, Michèle; Hamelin, Richard; Wafaa, Badre; Gauthier-Villars, Marion; Bourdeaut, Franck; Sheridan, Eamonn; Vasen, Hans; Brugières, Laurence; Wimmer, Katharina; Muleris, Martine; Duval, Alex

2015-10-01

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 or leukemias, and brain tumors. There is no satisfactory method for diagnosis of CMMRD because screens for mutations in MMR genes are noninformative for 30% of patients. MMR-deficient cancer cells are resistant to genotoxic agents and have microsatellite instability (MSI), due to accumulation of errors in repetitive DNA sequences. We investigated whether these features could be used to identify patients with CMMRD. We examined MSI by PCR analysis and tolerance to methylating or thiopurine agents (functional characteristics of MMR-deficient tumor cells) in lymphoblastoid cells (LCs) from 3 patients with CMMRD and 5 individuals with MMR-proficient LCs (controls). Using these assays, we defined experimental parameters that allowed discrimination of a series of 14 patients with CMMRD from 52 controls (training set). We then used the same parameters to assess 23 patients with clinical but not genetic features of CMMRD. In the training set, we identified parameters, based on MSI and LC tolerance to methylation, that detected patients with CMMRD vs controls with 100% sensitivity and 100% specificity. Among 23 patients suspected of having CMMRD, 6 had MSI and LC tolerance to methylation (CMMRD highly probable), 15 had neither MSI nor LC tolerance to methylation (unlikely to have CMMRD), and 2 were considered doubtful for CMMRD based on having only 1 of the 2 features. The presence of MSI and tolerance to methylation in LCs identified patients with CMMRD with 100% sensitivity and specificity. These features could be used in diagnosis of patients. Copyright © 2015 AGA Institute. Published by Elsevier Inc. All rights reserved.

The legacy of gender-based violence and HIV/AIDS in the postgenocide era: Stories from women in Rwanda.

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Russell, Susan Garnett; Lim, Sanaya; Kim, Paul; Morse, Sophie

2016-07-01

Drawing on qualitative interviews with 22 Rwandan women, we describe the lived experiences of women survivors of gender-based violence (GBV) more than a decade and a half after the 1994 Genocide. We argue that the intersection between GBV and human immunodeficiency virus (HIV)/acquired immune deficiency syndrome (AIDS) has long-term implications: the majority of women interviewed continue to endure trauma, stigma, social isolation, and economic hardship in the postgenocide era and are in need of expanded economic and mental health support. Our findings have implications for the importance of providing integrated psychosocial support to survivors of GBV postconflict contexts.

[Comparative analysis on the biological basis of blood stasis syndrome induced by qi-stagnation and qi-deficiency in patients with unstable angina pectoris].

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Ren, Jian-xun; Liu, Jian-xun; Lin, Cheng-ren

2010-04-01

To comparatively analyse the objective characteristics of different syndrome types of qi-disturbance-induced blood stasis syndrome (QDBS) in the pathogenetic evolution of unstable angina coronary heart disease (UA-CHD). Seventy-eight patients with UA-CHD of QDBS were differentiated into 2 groups: 55 in the qi-deficiency-induced blood-stasis syndrome group (A) and 23 in the qi-stagnation-induced blood-stasis syndrome group (B). The comparative analysis on them was carried out through comparing their blood pressure, glucose and lipid metabolisms, coagulation function, thyroid function and inflammation reaction changes, etc. In the pathogenetic process of qi-disturbance induced blood stasis, the initiating age, levels of HbA1c, TSH, PT and APTT between the two groups were significantly different (P emotional stress is possibly the essence of qi-stagnation induced blood stasis syndrome.

Atypical B12 Deficiency with Nonresolving Paraesthesia

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S. Haider

2013-01-01

Full Text Available Vitamin B12 deficiency can present with various hematological, gastrointestinal and neurological manifestations. We report a case of elderly female who presented with neuropathy and vitamin B12 deficiency where the final work-up revealed polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes (POEMS. This case suggests that, although POEMS syndrome is a rare entity, it can present with vitamin-B12 deficiency and thus specific work up for early diagnosis of POEMS should be considered in patients with B12 deficiency unresponsive to therapy.

30 Years of HIV/AIDS

Centers for Disease Control (CDC) Podcasts

Dr. Kevin A. Fenton, Director of CDC's National Center for HIV/AIDS, Viral Hepatitis, STD, and TB Prevention, discusses the 30 year anniversary of the first reported cases of acquired immunodeficiency syndrome, or AIDS. Dr. Fenton also reflects on the HIV/AIDS epidemic – past, present, and future.

A novel homozygous AP4B1 mutation in two brothers with AP-4 deficiency syndrome and ocular anomalies.

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Accogli, Andrea; Hamdan, Fadi F; Poulin, Chantal; Nassif, Christina; Rouleau, Guy A; Michaud, Jacques L; Srour, Myriam

2018-04-01

Adaptor protein complex-4 (AP-4) is a heterotetrameric protein complex which plays a key role in vesicle trafficking in neurons. Mutations in genes affecting different subunits of AP-4, including AP4B1, AP4E1, AP4S1, and AP4M1, have been recently associated with an autosomal recessive phenotype, consisting of spastic tetraplegia, and intellectual disability (ID). The overlapping clinical picture among individuals carrying mutations in any of these genes has prompted the terms "AP-4 deficiency syndrome" for this clinically recognizable phenotype. Using whole-exome sequencing, we identified a novel homozygous mutation (c.991C>T, p.Q331*, NM_006594.4) in AP4B1 in two siblings from a consanguineous Pakistani couple, who presented with severe ID, progressive spastic tetraplegia, epilepsy, and microcephaly. Sanger sequencing confirmed the mutation was homozygous in the siblings and heterozygous in the parents. Similar to previously reported individuals with AP4B1 mutations, brain MRI revealed ventriculomegaly and white matter loss. Interestingly, in addition to the typical facial gestalt reported in other AP-4 deficiency cases, the older brother presented with congenital left Horner syndrome, bilateral optic nerve atrophy and cataract, which have not been previously reported in this condition. In summary, we report a novel AP4B1 homozygous mutation in two siblings and review the phenotype of AP-4 deficiency, speculating on a possible role of AP-4 complex in eye development. © 2018 Wiley Periodicals, Inc.

AIDS (image)

Science.gov (United States)

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

Traditional Chinese Medicine Syndromes for Essential Hypertension: A Literature Analysis of 13,272 Patients

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Jie Wang

2014-01-01

Full Text Available Background. To simplify traditional Chinese medicine syndrome differentiation and allow researchers to master syndrome differentiation for hypertension, this paper retrospectively studied the literature and analyzed syndrome elements corresponding to hypertension syndromes. Methods. Six databases including PubMed, EMBASE, Chinese Bio-Medical Literature Database, Chinese National Knowledge Infrastructure, Chinese Scientific Journal Database, and Wan-fang Data were searched from 1/January/2003 to 30/October/2013. We included all clinical literature testing hypertension syndromes and retrospectively studied the hypertension literature published from 2003 to 2013. Descriptive statistics calculated frequencies and percentages. Results. 13,272 patients with essential hypertension were included. Clinical features of hypertension could be attributed to 11 kinds of syndrome factors. Among them, seven syndrome factors were excess, while four syndrome factors were deficient. Syndrome targets were mainly in the liver and related to the kidney and spleen. There were 33 combination syndromes. Frequency of single-factor syndromes was 31.77% and frequency of two-factor syndromes was 62.26%. Conclusions. Excess syndrome factors of hypertension patients include yang hyperactivity, blood stasis, phlegm turbidity, internal dampness, and internal fire. Deficient syndrome factors of hypertension patients are yin deficiency and yang deficiency. Yin deficiency with yang hyperactivity, phlegm-dampness retention, and deficiency of both yin and yang were the three most common syndromes in clinical combination.

Potential roles for uncoupling proteins in HIV lipodystrophy.

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Nolan, David; Pace, Craig

2004-07-01

The 'HIV lipodystrophy syndrome' consists of several distinct components, including lipoatrophy (pathological subcutaneous fat loss), lipohypertrophy (abdominal/visceral adiposity), and metabolic complications including insulin resistance and dyslipidemia. Lipoatrophy appears to represent an adipose tissue-specific form of mitochondrial toxicity associated strongly with stavudine NRTI therapy, whilst the 'metabolic syndrome' phenotype is associated with HIV protease inhibitor therapy. In this context, the role of uncoupling proteins (UCPs) in modulating resting energy expenditure in response to elevated fatty acid flux associated with the 'metabolic syndrome' is supported by clinical data as well as findings of elevated adipose tissue UCP expression. The role of UCPs in this syndrome therefore exemplifies the multifactorial nature of these antiretroviral therapy complications.

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

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. 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. These data suggest CD38 expression in CD8+ T cells interesting tool identifying HIV/leprosy individuals at risk for IRIS/RR. So, a

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

Evaluation of the integrated clinic model for HIV/AIDS services in Ho Chi Minh City, Viet Nam, 2013-2014.

Science.gov (United States)

Hung, V; Nguyen, S T; Tieu, V T T; Nguyen, T T T; Duong, T H; Lyss, S; Oeltmann, J E

2016-12-21

Setting: Ho Chi Minh City (HCMC), Viet Nam. Objective: To evaluate a new integrated service model for human immunodeficiency virus/acquired immune-deficiency syndrome (HIV/AIDS) care. Design: In HCMC, co-located services, including voluntary HIV counseling and testing (VCT), HIV treatment at out-patient clinics (OPC), and methadone maintenance therapy (MMT) for persons who inject drugs, have operated under different administrative structures. In the context of decreasing international financial support, integration of these services into one administrative structure with reduced staff occurred in seven districts in HCMC between October 2013 and June 2014. We used a pre-post study design to compare service-related outcomes from routinely collected data at health facilities 6 months before and 6 months after integration. Results: The proportion of HIV-infected persons linked from VCT to OPCs was unchanged or increased following integration. A higher percentage of patients eligible for antiretroviral therapy (ART) were started on ART. The proportion of ART patients lost to follow-up remained unchanged. The proportions of MMT patients who tested positive for heroin or other substances decreased or were unchanged. Conclusions: VCT, OPC and MMT service delivery quality remained the same or improved during the 6 months following the integration. Expansion of the integrated model should be considered for HIV-related services.

Antepartum Ornithine Transcarbamylase Deficiency

Directory of Open Access Journals (Sweden)

Hitoshi Nakajima

2014-11-01

Full Text Available Ornithine transcarbamylase deficiency (OTCD is the most common type urea cycle enzyme deficiencies. This syndrome results from a deficiency of the mitochondrial enzyme ornithine transcarbamylase, which catalyzes the conversion of ornithine and carbamoyl phosphate to citrullin. Our case was a 28-year-old female diagnosed with OTCD following neurocognitive deficit during her first pregnancy. Although hyperammonemia was suspected as the cause of the patient's mental changes, there was no evidence of chronic liver disease. Plasma amino acid and urine organic acid analysis revealed OTCD. After combined modality treatment with arginine, sodium benzoate and hemodialysis, the patient's plasma ammonia level stabilized and her mental status returned to normal. At last she recovered without any damage left.

Gastrointestinal viral load and enteroendocrine cell number are associated with altered survival in HIV-1 infected individuals.

Directory of Open Access Journals (Sweden)

Guido van Marle

Full Text Available Human immunodeficiency virus type 1 (HIV-1 infects and destroys cells of the immune system leading to an overt immune deficiency known as HIV acquired immunodeficiency syndrome (HIV/AIDS. The gut associated lymphoid tissue is one of the major lymphoid tissues targeted by HIV-1, and is considered a reservoir for HIV-1 replication and of major importance in CD4+ T-cell depletion. In addition to immunodeficiency, HIV-1 infection also directly causes gastrointestinal (GI dysfunction, also known as HIV enteropathy. This enteropathy can manifest itself as many pathological changes in the GI tract. The objective of this study was to determine the association of gut HIV-1 infection markers with long-term survival in a cohort of men who have sex with men (MSM enrolled pre-HAART (Highly Active Antiretroviral Therapy. We examined survival over 15-years in a cohort of 42 HIV-infected cases: In addition to CD4+ T cell counts and HIV-1 plasma viral load, multiple gut compartment (duodenum and colon biopsies were taken by endoscopy every 6 months during the initial 3-year period. HIV-1 was cultured from tissues and phenotyped and viral loads in the gut tissues were determined. Moreover, the tissues were subjected to an extensive assessment of enteroendocrine cell distribution and pathology. The collected data was used for survival analyses, which showed that patients with higher gut tissue viral load levels had a significantly worse survival prognosis. Moreover, lower numbers of serotonin (duodenum and somatostatin (duodenum and colon immunoreactive cell counts in the gut tissues of patients was associated with significant lower survival prognosis. Our study, suggested that HIV-1 pathogenesis and survival prognosis is associated with altered enteroendocrine cell numbers, which could point to a potential role for enteroendocrine function in HIV infection and pathogenesis.

Clinical Endocannabinoid Deficiency Reconsidered: Current Research Supports the Theory in Migraine, Fibromyalgia, Irritable Bowel, and Other Treatment-Resistant Syndromes.

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Russo, Ethan B

2016-01-01

Medicine continues to struggle in its approaches to numerous common subjective pain syndromes that lack objective signs and remain treatment resistant. Foremost among these are migraine, fibromyalgia, and irritable bowel syndrome, disorders that may overlap in their affected populations and whose sufferers have all endured the stigma of a psychosomatic label, as well as the failure of endless pharmacotherapeutic interventions with substandard benefit. The commonality in symptomatology in these conditions displaying hyperalgesia and central sensitization with possible common underlying pathophysiology suggests that a clinical endocannabinoid deficiency might characterize their origin. Its base hypothesis is that all humans have an underlying endocannabinoid tone that is a reflection of levels of the endocannabinoids, anandamide (arachidonylethanolamide), and 2-arachidonoylglycerol, their production, metabolism, and the relative abundance and state of cannabinoid receptors. Its theory is that in certain conditions, whether congenital or acquired, endocannabinoid tone becomes deficient and productive of pathophysiological syndromes. When first proposed in 2001 and subsequently, this theory was based on genetic overlap and comorbidity, patterns of symptomatology that could be mediated by the endocannabinoid system (ECS), and the fact that exogenous cannabinoid treatment frequently provided symptomatic benefit. However, objective proof and formal clinical trial data were lacking. Currently, however, statistically significant differences in cerebrospinal fluid anandamide levels have been documented in migraineurs, and advanced imaging studies have demonstrated ECS hypofunction in post-traumatic stress disorder. Additional studies have provided a firmer foundation for the theory, while clinical data have also produced evidence for decreased pain, improved sleep, and other benefits to cannabinoid treatment and adjunctive lifestyle approaches affecting the ECS.

Prevalence of lipodystrophy and metabolic syndrome among HIV positive individuals on Highly Active Anti-Retroviral treatment in Jimma, South West Ethiopia.

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Berhane, Tsegay; Yami, Alemishet; Alemseged, Fessahaye; Yemane, Tilahun; Hamza, Leja; Kassim, Mehedi; Deribe, Kebede

2012-01-01

Use of highly active antiretroviral therapy has led to significant reductions in morbidity and mortality rates. However, these agents had also given rise to the metabolic and morphologic abnormalities which are modifiable risk factors for cardiovascular diseases. Evidences elsewhere indicate growing in prevalence of these problems but studies are lacking in Ethiopia. This study was conducted to determine the prevalence of HIV-associated lipodystrophy and metabolic syndrome in patients taking highly active antiretroviral therapy. A cross-sectional study was conducted in 2010 on a sample of 313 patients taking highly active antiretroviral therapy in Jimma University specialized hospital. Structured questionnaire was used to assess patients' sociodemographic characteristics and clinical manifestations of metabolic abnormalities. Checklists were used for reviewing charts about clinical manifestations of metabolic abnormalities and immunologic profile of patients. Data was cleaned, entered in and analyzed using SPSS for windows version 16.0. Metabolic syndrome was detected in 21.1% and HIV-lipodystrophy was detected 12.1% of patients. The factors found to be independently associated with metabolic syndrome were taking the antiretroviral therapy for more than 12 months (AOR=4.2; 95% CI=1.24-14.23) and female sex (AOR=2.30; 95% CI=1.0-5.27) and the factor found to be independently associated with HIV-lipodystrophy was taking the antiretroviral therapy (AOR=3.59; 95% CI=1.03-12.54) for more than 12 months. Metabolic abnormalities were relatively common in the study population. The problems were higher among those who took anti-retroviral treatment for longer duration. Therefore, regular screening for and taking action against the metabolic abnormalities is mandatory.

30 Years of HIV/AIDS

Centers for Disease Control (CDC) Podcasts

2011-06-02

Dr. Kevin A. Fenton, Director of CDC's National Center for HIV/AIDS, Viral Hepatitis, STD, and TB Prevention, discusses the 30 year anniversary of the first reported cases of acquired immunodeficiency syndrome, or AIDS. Dr. Fenton also reflects on the HIV/AIDS epidemic – past, present, and future.  Created: 6/2/2011 by National Center for HIV/AIDS, Viral Hepatitis, STD, and TB Prevention (NCHHSTP).   Date Released: 6/2/2011.

Cobalamin Deficiency in Elderly Patients: A Personal View

Directory of Open Access Journals (Sweden)

Emmanuel Andrès

2008-01-01

Full Text Available Cobalamin (vitamin B12 deficiency is particularly common in the elderly (>65 years of age but is often unrecognized because its clinical manifestations are subtle; however, they are also potentially serious, particularly from a neuropsychiatric and hematological perspective. In the elderly, the main causes of cobalamin deficiency are pernicious anemia and food-cobalamin malabsorption. Food-cobalamin malabsorption syndrome is a disorder characterized by the inability to release cobalamin from food or its binding proteins. This syndrome is usually caused by atrophic gastritis, related or unrelated to Helicobacter pylori infection, and long-term ingestion of antacids and biguanides. Management of cobalamin deficiency with cobalamin injections is currently well documented but new routes of cobalamin administration (oral and nasal are being studied, especially oral cobalamin therapy for food-cobalamin malabsorption.

Androgen deficiency and dry eye syndrome in the aging male.

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

2014-07-03

To evaluate the relationship between androgen levels and subjective and objective measures of dry eye syndrome (DES). A total of 263 male patients from the Miami Veterans Affairs Medical Center eye clinic aged ≥50 were recruited for this prospective cross-sectional study. Patients completed Dry Eye Questionnaire 5, underwent tear film evaluation, and had serum androgen levels measured. The correlations between androgen levels, DES composite scores, DES symptoms, and global, lipid, and aqueous tear film parameters were evaluated. Two hundred sixty-three patients with a mean age of 69 (50-95) were examined. There was no linear association between composite DES scores (generated using latent class analysis) and androgen levels. However, eyes with high DES scores (0.95-1.0) had higher levels of sex hormone-binding globulin (P = 0.03) and lower levels of dehydroepiandrosterone sulfate (DHEAS) (P = 0.02), androstenedione (A) (P = 0.02), and androstane-3α,17β-diol glucuronide (P = 0.03) compared to eyes with intermediate (0.05-0.95) or low (0-0.05) scores. There were no strong correlations between tear film measures and androgen levels. Regarding global parameters, a weak inverse correlation was found between corneal staining and A (r = -0.17, P = 0.009). For lipid parameters, a weak correlation existed between tear breakup time (TBUT) and A (r = 0.15, P = 0.02). When considering aqueous and lipid deficiency independently, the association between TBUT and A existed only with aqueous tear deficiency (r = 0.66, P = 0.002). Regarding aqueous parameters, a weak correlation existed between Schirmer test and DHEAS (r = 0.13, P = 0.047) and A (r = 0.21, P = 0.001). There was a weak correlation between higher levels of androstenedione and healthier global, lipid, and aqueous tear film parameters. Copyright 2014 The Association for Research in Vision and Ophthalmology, Inc.

CDC Vital Signs: New Hope for Stopping HIV

Science.gov (United States)

... 27 MB] Read the MMWR Science Clips New Hope for Stopping HIV Testing and Medical Care Save ... acquired immunodeficiency syndrome) and early death. There's new hope today for stopping HIV in the US. Medicines ( ...

The heartstrings mutation in zebrafish causes heart/fin Tbx5 deficiency syndrome.

Science.gov (United States)

Garrity, Deborah M; Childs, Sarah; Fishman, Mark C

2002-10-01

Holt-Oram syndrome is one of the autosomal dominant human "heart-hand" disorders, with a combination of upper limb malformations and cardiac defects. Holt-Oram syndrome is caused by mutations in the TBX5 gene, a member of a large family of T-box transcription factors that play important roles in cell-type specification and morphogenesis. In a screen for mutations affecting zebrafish cardiac function, we isolated the recessive lethal mutant heartstrings, which lacks pectoral fins and exhibits severe cardiac dysfunction, beginning with a slow heart rate and progressing to a stretched, non-functional heart. We mapped and cloned the heartstrings mutation and find it to encode the zebrafish ortholog of the TBX5 gene. The heartstrings mutation causes premature termination at amino acid 316. Homozygous mutant embryos never develop pectoral fin buds and do not express several markers of early fin differentiation. The total absence of any fin bud differentiation distinguishes heartstrings from most other mutations that affect zebrafish fin development, suggesting that Tbx5 functions very early in the pectoral fin induction pathway. Moderate reduction of Tbx5 by morpholino causes fin malformations, revealing an additional early requirement for Tbx5 in coordinating the axes of fin outgrowth. The heart of heartstrings mutant embryos appears to form and function normally through the early heart tube stage, manifesting only a slight bradycardia compared with wild-type siblings. However, the heart fails to loop and then progressively deteriorates, a process affecting the ventricle as well as the atrium. Relative to mammals, fish require lower levels of Tbx5 to produce malformed appendages and display whole-heart rather than atrial-predominant cardiac defects. However, the syndromic deficiencies of tbx5 mutation are remarkably well retained between fish and mammals.

Late HIV Diagnosis: Proposed Common Definitions and Associations With Short-Term Mortality.

Science.gov (United States)

Jiang, Hongbo; Xie, Nianhua; Liu, Jianhua; Zhang, Zhixia; Liu, Li; Yao, Zhongzhao; Wang, Xia; Nie, Shaofa

2015-09-01

The aim of this study was to present a definition of late presentation according to different time periods between initial diagnosis of human immunodeficiency virus (HIV) infection and acquired immune deficiency syndrome (AIDS) diagnosis which would reliably identify individuals with high risk of mortality within 1 year of diagnosis, and could be used as a suggested common definition.Data of individuals diagnosed from 1994 to February 2012 in Wuhan, China were extracted retrospectively from the national HIV surveillance system. Four time periods (1, 3, 6, and 12 months) combined with the European consensus definition of advanced HIV disease (AHD) were compared. The predictive ability of each definition for identifying an individual who died within 1 year after HIV diagnosis was assessed.A total of 980 patients were included, of whom 289 (29.49%), 324 (33.06%), 353 (36.02%), and 387 (39.49%) were defined as AHD according to the definition of a CD4 count AIDS-defining event (ADE) within 1, 3, 6, and 12 months of HIV diagnosis, respectively. One hundred twenty-seven (12.96%) patients died within 1 year of diagnosis. The highest Youden's index and largest area under the curve were presented in time period within 3 months. Time period within 1 month presented the highest consistency rate, positive likelihood ratio, and kappa value. Longer time periods increased the sensitivity but decreased the specificity.Given the European consensus definitions and the current results, we suggested that AHD could be defined as "a first-reported CD4 count <200 cells/μL or an ADE within 1 month after HIV diagnosis." "Late presentation" could be defined as "a first-reported CD4 count <350 cells/μL or an ADE within 1 month after HIV diagnosis."

Understanding the gender disparity in HIV infection across countries in sub-Saharan Africa: evidence from the Demographic and Health Surveys

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Magadi, Monica Akinyi

2011-01-01

Women in sub-Saharan Africa bear a disproportionate burden of human immunodeficiency virus (HIV) infections, which is exacerbated by their role in society and biological vulnerability. The specific objectives of this article are to (i) determine the extent of gender disparity in HIV infection; (ii) examine the role of HIV/acquired immune deficiency syndrome (AIDS) awareness and sexual behaviour factors on the gender disparity and (iii) establish how the gender disparity varies between individuals of different characteristics and across countries. The analysis involves multilevel logistic regression analysis applied to pooled Demographic and Health Surveys data from 20 countries in sub-Saharan Africa conducted during 2003–2008. The findings suggest that women in sub-Saharan Africa have on average a 60% higher risk of HIV infection than their male counterparts. The risk for women is 70% higher than their male counterparts of similar sexual behaviour, suggesting that the observed gender disparity cannot be attributed to sexual behaviour. The results suggest that the risk of HIV infection among women (compared to men) across countries in sub-Saharan Africa is further aggravated among those who are younger, in female-headed households, not in stable unions or marital partnerships or had an earlier sexual debut. PMID:21545443

Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.

Science.gov (United States)

van der Klift, Heleen M; Mensenkamp, Arjen R; Drost, Mark; Bik, Elsa C; Vos, Yvonne J; Gille, Hans J J P; Redeker, Bert E J W; Tiersma, Yvonne; Zonneveld, José B M; García, Encarna Gómez; Letteboer, Tom G W; Olderode-Berends, Maran J W; van Hest, Liselotte P; van Os, Theo A; Verhoef, Senno; Wagner, Anja; van Asperen, Christi J; Ten Broeke, Sanne W; Hes, Frederik J; de Wind, Niels; Nielsen, Maartje; Devilee, Peter; Ligtenberg, Marjolijn J L; Wijnen, Juul T; Tops, Carli M J

2016-11-01

Monoallelic PMS2 germline mutations cause 5%-15% of Lynch syndrome, a midlife cancer predisposition, whereas biallelic PMS2 mutations cause approximately 60% of constitutional mismatch repair deficiency (CMMRD), a rare childhood cancer syndrome. Recently improved DNA- and RNA-based strategies are applied to overcome problematic PMS2 mutation analysis due to the presence of pseudogenes and frequent gene conversion events. Here, we determined PMS2 mutation detection yield and mutation spectrum in a nationwide cohort of 396 probands. Furthermore, we studied concordance between tumor IHC/MSI (immunohistochemistry/microsatellite instability) profile and mutation carrier state. Overall, we found 52 different pathogenic PMS2 variants explaining 121 Lynch syndrome and nine CMMRD patients. In vitro mismatch repair assays suggested pathogenicity for three missense variants. Ninety-one PMS2 mutation carriers (70%) showed isolated loss of PMS2 in their tumors, for 31 (24%) no or inconclusive IHC was available, and eight carriers (6%) showed discordant IHC (presence of PMS2 or loss of both MLH1 and PMS2). Ten cases with isolated PMS2 loss (10%; 10/97) harbored MLH1 mutations. We confirmed that recently improved mutation analysis provides a high yield of PMS2 mutations in patients with isolated loss of PMS2 expression. Application of universal tumor prescreening methods will however miss some PMS2 germline mutation carriers. © 2016 WILEY PERIODICALS, INC.

[Systemic lupus erythematosus masking the acquired immunodeficiency syndrome. A report on four cases].

Science.gov (United States)

Kotyla, Przemysław; Kucharz, Eugeniusz J

2012-01-01

Systemic lupus erythematosus (SLE) is a systemic inflammatory disease of connective tissue with an unknown etiology and a rich clinical picture with involvement of multiple organs. Given the rich symptomatology, application of the current classification criteria is associated with a significant risk of attributing symptoms of other pathologies to lupus and/or other connective tissue disease. Inherited and acquired immune deficiencies may sometimes demonstrate a lupus-like clinical symptomatology. In this work we reviewed 4 of cases referred to the Department of Internal Diseases and Rheumatology of the Silesian Medical University in Katowice with suspected or confirmed systemic lupus erythematosus. A positive anti-HIV antibody test led to the diagnosis of the acquired immunodeficiency syndrome (AIDS). Due to the close similarity of the clinical picture and the presence of antinuclear antibodies in both diseases, the authors postulate that the anti-HIV antibody test should be done routinely in patients with connective tissue diseases.

Osteonecrosis in HIV-infected patients

International Nuclear Information System (INIS)

Lama, E. de; Narvaez, J. A.; Roca, Y.; Pellicer, J. M.

2001-01-01

We present two cases of avascular osteonecrosis, one involving the knees and the other the hips, in patients with human immunodeficiency virus (HIV) infection who met the criteria for acquired immunodeficiency syndrome (AIDS). We review the literature concerning this rare complication of HIV infection, focussing especially on the clinical and radiological features and its possible etiopathogenesis. (Author) 30 refs

Burning Mouth Syndrome and "Burning Mouth Syndrome".

Science.gov (United States)

Rifkind, Jacob Bernard

2016-03-01

Burning mouth syndrome is distressing to both the patient and practitioner unable to determine the cause of the patient's symptoms. Burning mouth syndrome is a diagnosis of exclusion, which is used only after nutritional deficiencies, mucosal disease, fungal infections, hormonal disturbances and contact stomatitis have been ruled out. This article will explore the many causes and treatment of patients who present with a chief complaint of "my mouth burns," including symptomatic treatment for those with burning mouth syndrome.

The triad of Iron deficiency anemia, hepatosplenomegaly and ...

African Journals Online (AJOL)

A triad of iron deficiency anemia, hepatosplenomegaly and growth retardation occurring in tandem with zinc deficiency has been reported in the past as components of either Prasad's syndrome or hypopituitarism. There are no documented cases of such triad occurring in the presence of normal serum zinc levels. We report ...

Lymphocyte transformation response to pokeweed mitogen as a predictive marker for development of AIDS and AIDS related symptoms in homosexual men with HIV antibodies

DEFF Research Database (Denmark)

Hofmann, B; Lindhardt, B O; Gerstoft, J

1987-01-01

To identify factors that may predict the development of the acquired immune deficiency syndrome (AIDS) or AIDS related symptoms various immunological measurements were studied in a group of homosexual men attending screening clinics for AIDS in Copenhagen. Fifty seven men whose ratio of T helper...... lymphocytes to T suppressor lymphocytes (CD4:CD8 ratio) was less than 1.0 before the study began were included. Forty two were positive for antibody to the human immunodeficiency virus (HIV), of whom 38 were reinvestigated after a median observation period of 10 months. Among the seropositive men...

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. © 2015 American Academy of Sleep Medicine.

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

Science.gov (United States)

Desai, B T

1989-01-01

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

Multiphasic and multifocal cryptococcal immune reconstitution inflammatory syndrome in an HIV-infected patient: interplay of infection and immunity.

Science.gov (United States)

Katchanov, Juri; Zimmermann, Ulrike; Branding, Gordian; Tintelnot, Kathrin; Müller, Markus; Arastéh, Keikawus; Stocker, Hartmut

2014-01-01

We report a case of cryptococcal immune reconstitution inflammatory syndrome affecting the lungs, and 10 months later the cervical lymph nodes, in the absence of cryptococcal meningitis, in advanced HIV infection. Our report demonstrates the organ-specificity of the timing of the inflammatory response and illustrates the organ-specific interplay of immunity and infection in cryptococcal disease. Copyright © 2013 The Authors. Published by Elsevier Ltd.. All rights reserved.

Coffee shops and clinics: the give and take of doing HIV/AIDS research with injecting drug users.

Science.gov (United States)

Marsh, A; Loxley, W

1992-06-01

We discuss recruiting and interviewing injecting drug users and using research as health promotion in the context of collecting information related to human immunodeficiency virus (HIV) or acquired immune deficiency syndrome (AIDS) from a convenience sample of 200 injecting drug users, half in treatment and half not, in 1989 and 1990 in Perth, Western Australia. A variety of recruiting methods were used including advertising, referral by agency staff, 'snowballing' and approaches to personal contacts and others known to inject by the interviewer. Snowballing and personal contacts were the most successful means of recruiting those not in treatment, while advertising was comparatively unsuccessful with this group because of the importance of establishing the credibility of the study and the interviewer among injecting drug users before they will volunteer to be involved. The promotion of behavioural risk reduction among respondents during the interview is detailed. We argue that the traditionally rigid separation between research and intervention is inappropriate in the HIV/AIDS context. When lives are potentially at stake, any contact with injecting drug users, especially those not in treatment (where may receive HIV/AIDS education), must be used as an HIV/AIDS prevention opportunity, and the interview is an ideal opportunity. The employment of research as community intervention is also discussed.

Molecular mechanisms of HIV-1 associated neurodegeneration

Indian Academy of Sciences (India)

Since identification of the human immunodeficiency virus-1 (HIV-1), numerous studies suggest a link between neurological impairments, in particular dementia, with acquired immunodeficiency syndrome (AIDS) with alarming occurrence worldwide. Approximately, 60% of HIV-infected people show some form of neurological ...

Genetics Home Reference: fumarase deficiency

Science.gov (United States)

... V, Tomlinson IP. The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency. BMC Med Genet. 2008 Mar 25;9:20. doi: 10.1186/1471-2350- ...

A critical assessment of theories/models used in health communication for HIV/AIDS.

Science.gov (United States)

Airhihenbuwa, C O; Obregon, R

2000-01-01

Most theories and models used to develop human immunodeficiency virus (HIV)/acquired immune deficiency syndrome (AIDS) communication are based on social psychology that emphasizes individualism. Researchers including communication and health scholars are now questioning the presumed global relevance of these models and thus the need to develop innovative theories and models that take into account regional contexts. In this paper, we discuss the commonly used theories and models in HIV/AIDS communication. Furthermore, we argue that the flaws in the application of the commonly used "classical" models in health communication are because of contextual differences in locations where these models are applied. That is to say that these theories and models are being applied in contexts for which they were not designed. For example, the differences in health behaviors are often the function of culture. Therefore, culture should be viewed for its strength and not always as a barrier. The metaphorical coupling of "culture" and "barrier" needs to be exposed, deconstructed, and reconstructed so that new, positive, cultural linkages can be forged. The HIV/AIDS pandemic has served as a flashpoint to either highlight the importance or deny the relevance of theories and models while at the same time addressing the importance of culture in the development and implementation of communication programs.

Wernicke-Korsakoff syndrome

Science.gov (United States)

... parts of the brain called the thalamus and hypothalamus. Korsakoff psychosis results from permanent damage to areas ... may cause vitamin B1 deficiency include: HIV/AIDS Cancers that have spread throughout the body Extreme nausea ...

Structure of the periodontium in cathepsin C-deficient mice

NARCIS (Netherlands)

de Haar, Susanne F.; Tigchelaar-Gutter, Wikky; Everts, Vincent; Beertsen, Wouter

2006-01-01

Papillon-Lefevre syndrome is characterized by increased susceptibility to early-onset periodontitis and is caused by mutations in the cathepsin C gene. How deficiency of the enzyme relates to an increased periodontal infection risk is still not entirely clear. One possibility is that the deficiency

Immunotherapy holds the key to cancer treatment and prevention in constitutional mismatch repair deficiency (CMMRD) syndrome.

Science.gov (United States)

Westdorp, Harm; Kolders, Sigrid; Hoogerbrugge, Nicoline; de Vries, I Jolanda M; Jongmans, Marjolijn C J; Schreibelt, Gerty

2017-09-10

Monoallelic germline mutations in one of the DNA mismatch repair (MMR) genes cause Lynch syndrome, with a high lifetime risks of colorectal and endometrial cancer at adult age. Less well known, is the constitutional mismatch repair deficiency (CMMRD) syndrome caused by biallelic germline mutations in MMR genes. This syndrome is characterized by the development of childhood cancer. Patients with CMMRD are at extremely high risk of developing multiple cancers including hematological, brain and intestinal tumors. Mutations in MMR genes impair DNA repair and therefore most tumors of patients with CMMRD are hypermutated. These mutations lead to changes in the translational reading frame, which consequently result in neoantigen formation. Neoantigens are recognized as foreign by the immune system and can induce specific immune responses. The growing evidence on the clinical efficacy of immunotherapies, such as immune checkpoint inhibitors, offers the prospect for treatment of patients with CMMRD. Combining neoantigen-based vaccination strategies and immune checkpoint inhibitors could be an effective way to conquer CMMRD-related tumors. Neoantigen-based vaccines might also be a preventive treatment option in healthy biallelic MMR mutation carriers. Future studies need to reveal the safety and efficacy of immunotherapies for patients with CMMRD. Copyright © 2017 The Author(s). Published by Elsevier B.V. All rights reserved.

Pyoderma gangrenosum in association with microscopic colitis, idiopathic hypereosinophilic syndrome, selective IgE deficiency and diabetes mellitus.

Science.gov (United States)

Riyaz, N; Sasidharanpillai, S; Rahima, S; Bindu, V; Shaan, M; Raghavan, N T; Mohan, L; Janardhanan, A K

2015-08-01

Pyoderma gangrenosum (PG) is a neutrophilic dermatosis of unknown aetiology. We report a 27-year-old male patient with diabetes, who presented with a nonhealing ulcer on the left leg, pruritic hyperpigmented papules distributed over the trunk and limbs, and chronic diarrhoea. He had eosinophilia, low haemoglobin and serum IgE levels, and raised erythrocyte sedimentation rate. Histopathology of the leg ulcer was consistent with the diagnosis of PG, while the histology of the hyperpigmented papule revealed tissue eosinophilia. Subsequent evaluation was conclusive of the diagnosis of PG, idiopathic hypereosinophilic syndrome (IHES) and selective IgE deficiency. Dexamethasone pulse therapy achieved resolution of the ulcer and reduction in the eosinophilia. Further evaluation for the persistent diarrhoea led to a diagnosis of lymphocytic colitis (LC), which responded to budesonide. To our knowledge, the association of PG with IHES, selective IgE deficiency or LC has not been previously reported. © 2015 British Association of Dermatologists.

Syndrome de Smith-Lemli-Opitz

DEFF Research Database (Denmark)

Pelluard-Nehmé, Fanny; Carles, Dominique; Alberti, Eve Marie

2005-01-01

SLO syndrome is an autosomal recessive condition with multiple malformations. This syndrome is ascribed to deficiency of 7 dehydrocholesterol reductase, an enzyme in the cholesterol biosynthetic pathway. The characteristics of this syndrome are facial anomalies, syndactyly of the second and third...

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

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Steven M Offer

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

Comparative brain pathology of HIV-seronegative and HIV-infected drug addicts.

Science.gov (United States)

Makrigeorgi-Butera, M; Hagel, C; Laas, R; Puschel, K; Stavrou, D

1996-01-01

Early stages of infection with human immunodeficiency virus (HIV) were studied in HIV-seropositive drug addicts. Since heroin users are immunocompromized even in the absence of HIV infection, the aim of the present study was to compare the morphological alterations present in HIV-seronegative and HIV-seropositive drug addicts. A total of 60 cases (32 HIV-seronegative subjects, 21 HIV-seropositive patients without signs of acquired immunodeficiency syndrome (AIDS), and 7 HIV-seropositive patients with signs of AIDS) were investigated macroscopically, histologically, and immunohistochemically HIV-seronegative patients presented more frequently with acute drug intoxication, died at a significantly younger age than HIV-seropositive patients, and were found to suffer more frequently from alcohol-related changes. These results indicated that HIV-seronegative and HIV-seropositive patients differed possibly in their drug consumption and also in their general conditions of life. In accordance with previous reports activated microglia and a diffuse astrogliosis in the white matter were detected at a significantly higher frequency and found to be more severe in HIV-seropositive subjects than in HIV-seronegative addicts. A lymphocytic meningitis was present in 6 of 21 HIV-seropositive patients but in none of the HIV-seronegative patients. Perivascular infiltrates consisting of lymphocytes and macrophages were detected at similar frequencies in HIV-seronegative and HIV-seropositive patients but were significantly more severe in patients suffering from lymphocytic meningitis or purulent encephalitis. Opportunistic infections were only demonstrated in 2 AIDS cases. In 10 of the HIV-seronegative patients and in 3 of the HIV-seropositive patients CD68-and Ham56-positive multinucleated cells were detected scattered in the subarachnoidal space exclusively over the frontal cortex.

Immune reconstitution inflammatory syndrome in HIV and sporotrichosis coinfection: report of two cases and review of the literature

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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.

Immune reconstitution inflammatory syndrome in HIV and sporotrichosis coinfection: report of two cases and review of the literature.

Science.gov (United States)

Lyra, Marcelo Rosandiski; Nascimento, Maria Letícia Fernandes Oliveira; Varon, Andréa Gina; Pimentel, Maria Inês Fernandes; Antonio, Liliane de Fátima; Saheki, Maurício Naoto; Bedoya-Pacheco, Sandro Javier; Valle, Antonio Carlos Francesconi do

2014-01-01

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.

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.

Molecular Mechanisms in Activation of Latent HIV-1

NARCIS (Netherlands)

H. Rafati (Haleh)

2014-01-01

markdownabstract__Abstract__ Finding a cure for the human immunodeficiency virus type 1 (HIV-1) is extremely challenging. Development of highly active anti-retroviral therapy (HAART), transformed HIV-1 infection from an acute syndrome into chronic disease. Although using HAART results in

Characteristic proteins in the plasma of postoperative colorectal and liver cancer patients with Yin deficiency of liver-kidney syndrome.

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Ji, Qing; Wang, Wenhai; Luo, Yunquan; Cai, Feifei; Lu, Yiyu; Deng, Wanli; Li, Qi; Su, Shibing

2017-11-28

Systems biology and bioinformatics provide the feasibility for the basic research associated with "same traditional Chinese medicine (TCM) syndrome in different diseases". In this study, the plasma proteins in postoperative colorectal (PCC) and postoperative liver cancer (PLC) patients with YDLKS (Yin deficiency of liver-kidney syndrome) were screened out using iTRAQ combined with LC-MS/MS technology. The results demonstrated that, KNG1, AMBP, SERPING1, etc, were all differentially expressed in both PCC and PLC patients with YDLKS, and associated closely with complement and coagulation cascades pathway. C7 and C2 were another two representative factors involving in former pathway. Further validation showed that, the C7 levels were increased significantly in PLC ( P patients with YDLKS ( P patients with YDLKS ( P patients with YDLKS.

Headache among patients with HIV disease: prevalence, characteristics, and associations.

Science.gov (United States)

Kirkland, Kale E; Kirkland, Karl; Many, W J; Smitherman, Todd A

2012-03-01

Headache is one of the most common medical complaints reported by individuals suffering from human immunodeficiency virus (HIV)/acquired immune deficiency syndrome (AIDS), but limited and conflicting data exist regarding their prevalence, prototypical characteristics, and relationship to HIV disease variables in the current era of highly active antiretroviral therapy (HAART). The aims of the present cross-sectional study were to characterize headache symptoms among patients with HIV/AIDS and to assess relations between headache and HIV/AIDS disease variables. Two hundred HIV/AIDS patients (49% female; mean age = 43.22 ± 12.30 years; 74% African American) from an internal medicine clinic and an AIDS outreach clinic were administered a structured headache diagnostic interview to assess headache characteristics and features consistent with International Classification of Headache Disorders (ICHD)-II diagnostic semiologies. They also completed 2 measures of headache-related disability. Prescribed medications, most recent cluster of differentiation (CD4) cell count, date of HIV diagnosis, possible causes of secondary headache, and other relevant medical history were obtained via review of patient medical records. One hundred seven patients (53.5%) reported headache symptoms, the large majority of which were consistent with characteristics of primary headache disorders after excluding 4 cases attributable to secondary causes. Among those who met criteria for a primary headache disorder, 88 (85.44%) met criteria for migraine, most of which fulfilled ICHD-II appendix diagnostic criteria for chronic migraine. Fifteen patients (14.56%) met criteria for episodic or chronic tension-type headache. Severity of HIV (as indicated by CD4 cell counts), but not duration of HIV or number of prescribed antiretroviral medications, was strongly associated with headache severity, frequency, and disability and also distinguished migraine from TTH. Problematic headache is highly prevalent

Detection of a human intracisternal A-type retroviral particle antigenically related to HIV

Science.gov (United States)

Garry, R. F.; Fermin, C. D.; Hart, D. J.; Alexander, S. S.; Donehower, L. A.; Luo-Zhang, H.

1990-01-01

Sjogren's syndrome is an autoimmune disease that is characterized by dryness of the mouth and eyes. The loss of salivary and lacrimal gland function is accompanied by lymphocytic infiltration. Because similar symptoms and glandular pathology are observed in certain persons infected with human immunodeficiency virus (HIV), a search was initiated for a possible retroviral etiology in this syndrome. A human intracisternal A-type retroviral particle that is antigenically related to HIV was detected in lymphoblastoid cells exposed to homogenates of salivary tissue from patients with Sjogren's syndrome. Comparison of this retroviral particle to HIV indicates that they are distinguishable by several ultrastructural, physical, and enzymatic criteria.

An Increased Risk of Osteoporosis during Acquired Immunodeficiency Syndrome.

Science.gov (United States)

Annapoorna, N; Rao, G Venkateswara; Reddy, N S; Rambabu, P; Rao, K R S Samabasiva

2004-01-01

Osteoporosis is characterized by decreased bone mineral density and mechanistic imbalances of bone tissue that may result in reduced skeletal strength and an enhanced susceptibility to fractures. Osteoporosis in its most common form affects the elderly (both sexes) and all racial groups of human beings. Multiple environmental risk factors like acquired immune deficiency syndrome (AIDS) are believed to be one of the causes of osteoporosis. Recently a high incidence of osteoporosis has been observed in human immunodeficiency virus (HIV) infected individuals. The etiology of this occurrence in HIV infections is controversial. This problem seems to be more frequent in patients receiving potent antiretroviral therapy. In AIDS, the main suggested risk factors for the development of osteoporosis are use of protease inhibitors, longer duration of HIV infection, lower body weight before antiretroviral therapy, high viral load. Variations in serum parameters like osteocalcin, c-telopeptide, levels of elements like Calcium, Magnesium, Phosphorus, concentration of vitamin-D metabolites, lactate levels, bicarbonate concentrations, amount of alkaline phosphatase are demonstrated in the course of development of osteoporosis. OPG/RANKL/RANK system is final mediator of bone remodeling. Bone mineral density (BMD) test is of added value to assess the risk of osteoporosis in patients infected with AIDS. The biochemical markers also aid in this assessment. Clinical management mostly follows the lines of treatment of osteoporosis and osteopenia.

Worldwide molecular epidemiology of HIV

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Henry I Z Requejo

2006-04-01

Full Text Available Human immunodeficiency virus (HIV is the worldwide disseminated causative agent of acquired immunodeficiency syndrome (AIDS. HIV is a member of the Lentivirus genus of Retroviridae family and is grouped in two types named HIV-1 and HIV-2. These viruses have a notable ability to mutate and adapt to the new conditions of human environment. A large incidence of errors at the transcriptional level results in changes on the genetic bases during the reproductive cycle. The elevated genomic variability of HIV has carried important implications for the diagnosis, treatment and prevention as well as epidemiologic investigations. The present review describes important definitions and geographical distribution of subtypes, circulating recombinant forms and other genomic variations of HIV. The present study aimed at leading students of Biomedical Sciences and public health laboratory staff guidance to general and specific knowledge about the genomic variability of the HIV.

Using the theory of planned behavior to explore attitudes and beliefs about dietary supplements among HIV-positive Black women.

Science.gov (United States)

Lino, Stephanie; Marshak, Helen Hopp; Herring, R Patti; Belliard, Juan Carlos; Hilliard, Charles; Campbell, Danielle; Montgomery, Susanne

2014-04-01

This cross-sectional study investigated whether the theory of planned behavior (TPB) constructs: attitudes, subjective norms, and perceived behavioral control were related to intention of dietary supplements use among African-American women living with Human Immunodeficiency Virus and/or Acquired Immune Deficiency Syndrome (HIV/AIDS). A closed-ended questionnaire based on the TPB was utilized to explore the use of dietary supplements among a cohort of 153 HIV-positive African-American women. Overall, 45% of the respondents used dietary supplements to manage/control their HIV. Combined, attitudes, subjective norms and perceived behavioral control were significant predictors of intention toward dietary supplement use (69% of the variance explained, pbehavioral control (β=0.45, pBehavioral intention and proximal TPB constructs (attitudes, subjective norms, and perceived behavioral control), as well as their underlying beliefs about dietary supplements use, were all found to be significantly more positive in users of dietary supplements compared to non-users (pbehavioral control are important predictors in the intention to use dietary supplements for control of HIV among African-American women. Implications from this study suggest that the TPB can be used to better identify and understand salient beliefs that surround intentions to use alternative therapies for management of disease. These beliefs can be used to develop interventions surrounding HIV treatment and care. Copyright © 2014 Elsevier Ltd. All rights reserved.

Oral complications of HIV disease

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Jair C. Leao

2009-05-01

Full Text Available Oral lesions are among the early signs of HIV infection and can predict its progression to acquired immunodeficiency syndrome (AIDS. A better understanding of the oral manifestations of AIDS in both adults and children has implications for all health care professionals. The knowledge of such alterations would allow for early recognition of HIV-infected patients. The present paper reviews epidemiology, relevant aspects of HIV infection related to the mouth in both adults and children, as well as current trends in antiretroviral therapy and its connection with orofacial manifestations related to AIDS.

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

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

2016-08-01

Constitutional mismatch repair deficiency (CMMRD) is a cancer predisposition syndrome associated with a high risk of developing early-onset malignancies of the blood, brain, and intestinal tract. We present the case of a patient with T-lymphoblastic lymphoma at the age of 3 years, followed by Burkitt lymphoma 10 years later. This patient also exhibited numerous nonmalignant findings including café au lait spots, lipomas, bilateral renal nodules, a nonossifying fibroma, multiple colonic adenomas, and a rapidly enlarging pilomatrixoma. The spectrum of malignant and nonmalignant neoplasms in this patient highlights the remarkable diversity, and early onset, of lesions seen in children with CMMRD. © 2016 Wiley Periodicals, Inc.

IGF-I replacement therapy in children with congenital IGF-I deficiency (Laron syndrome) maintains heart dimension and function.

Science.gov (United States)

Scheinowitz, Mickey; Feinberg, Micha S; Laron, Zvi

2009-06-01

Untreated patients with congenital growth hormone deficiency (GHD) and IGF-I deficiency are characterized not only by dwarfism but also by acromicria and organomicria, such as the heart. We assessed cardiac dimensions and function in very young patients with Laron syndrome (LS) undergoing IGF-I replacement therapy. Two to seven echocardiographic measurements were performed during IGF-I replacement therapy on male (n=4) and female (n=4) LS -patients, mean+/-SD age of 7.1+/-3.6 years (range 1.6-11.6 years), weight 16.1+/-9.7 kg, and height 89.9+/-18.5 cm. As aged- and gender-matched controls served 44 healthy children, age: 8.7+/-5.5 years, weight: 36.1+/-22.4 kg, and height: 129.7+/-33.1cm. Data of LS patients were normalized to body surface area and compared to the control group as well as nomograms of normal echocardiographic parameters for this age group. Left ventricular diastolic and systolic dimensions (LVDD/ LVSD, mm) and LV mass (gr) were significantly smaller in boys and girls with IGF-I treated LS compared with controls while the shortening fraction (%) and intraventricular septum thickness (mm) were similar. When compared with standard values for this age group, all treated LS patients were within 1 standard deviation of the mean. IGF-I therapy of young patients with Laron syndrome maintain LV dimensions and function within the normal range of aged-matched controls.

Differential Survival for Men and Women with HIV/AIDS-Related Neurologic Diagnoses.

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Martha L Carvour

Full Text Available Neurologic complications of human immunodeficiency virus (HIV infection and acquired immune deficiency syndrome (AIDS frequently lead to disability or death in affected patients. The aim of this study was to determine whether survival patterns differ between men and women with HIV/AIDS-related neurologic disease (neuro-AIDS.Retrospective cohort data from a statewide surveillance database for HIV/AIDS were used to characterize survival following an HIV/AIDS-related neurologic diagnosis for men and women with one or more of the following conditions: cryptococcosis, toxoplasmosis, primary central nervous system lymphoma, progressive multifocal leukoencephalopathy, and HIV-associated dementia. A second, non-independent cohort was formed using university-based cases to confirm and extend the findings from the statewide data. Kaplan-Meier analysis was used to compare the survival experiences for men and women in the cohorts. Cox regression was employed to characterize survival while controlling for potential confounders in the study population.Women (n=27 had significantly poorer outcomes than men (n=198 in the statewide cohort (adjusted hazard ratio=2.31, 95% CI: 1.22 to 4.35, and a similar, non-significant trend was observed among university-based cases (n=17 women, 154 men. Secondary analyses suggested that this difference persisted over the course of the AIDS epidemic and was not attributable to differential antiretroviral therapy responses among men and women.The survival disadvantage of women compared to men should be confirmed and the mechanisms underlying this disparity elucidated. If this relationship is confirmed, targeted clinical and public health efforts might be directed towards screening, treatment, and support for women affected by neuro-AIDS.

Gilbert's Syndrome

Science.gov (United States)

... not know you have the condition until it's discovered by accident, such as when a blood test ... chemotherapy drug Some protease inhibitors used to treat HIV If you have Gilbert's syndrome, talk to your ...

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

Science.gov (United States)

Ripperger, Tim; Schlegelberger, Brigitte

2016-03-01

Constitutional mismatch repair deficiency (CMMRD) syndrome is one of the rare diseases associated with a high risk of cancer. Causative mutations are found in DNA mismatch repair genes PMS2, MSH6, MSH2 or MLH1 that are well known in the context of Lynch syndrome. CMMRD follows an autosomal recessive inheritance trait and is characterized by childhood brain tumors and hematological malignancies as well as gastrointestinal cancer in the second and third decades of life. There is a high risk of multiple cancers, occurring synchronously and metachronously. In general, the prognosis is poor. About one third of CMMRD patients develop hematological malignancies as primary (sometimes the only) malignancy or as secondary neoplasm. T-cell non-Hodgkin lymphomas, mainly of mediastinal origin, are the most frequent hematological malignancies. Besides malignant diseases, non-neoplastic features are frequently observed, e.g. café-au-lait spots sometimes resembling neurofibromatosis type I, hypopigmented skin lesions, numerous adenomatous polyps, multiple pilomatricomas, or impaired immunoglobulin class switch recombination. Within the present review, we summarize previously published CMMRD patients with at least one hematological malignancy, provide an overview of steps necessary to substantiate the diagnosis of CMMRD, and refer to the recent most relevant literature. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Design of an mHealth System for Maternal and Children HIV care.

Science.gov (United States)

Koesoema, Allya P; Ariani, Arni; Irawan, Yoke S; Soegijoko, Soegijardjo

2017-07-01

While progress has been made to slow down its spread and increase uptake of treatment, human immunodeficiency virus infection and acquired immune deficiency syndrome (HIV/AIDS) is still a highly significant health problem for many low- and middle-income countries (LMICs). Specifically, almost half of new HIV patients in Asia Pacific were children. The prevention of mother-to-child transmission faces complex socioeconomic and other problems. With the increasing growth of mobile technologies in LMICs, especially in Asia Pacific, mHealth, the application of mobile technology for health applications, has a significant potential to help alleviate these problems. In this paper, we propose the design of an mHealth System for Maternal and Children HIV care. It includes specialized portals for patients, family/community members, healthcare providers, healthcare referral system, payers and drug supply chain. While each portal is customized towards the needs of a particular actor, such as treatment scheduling and education for patients, and epidemiological data management for healthcare referrals, all the different elements are integrated through a central server to form an integrated system with a secured data exchange environment. This proposed integrative design is aimed to facilitate efficient, timely and coordinated information dissemination, analysis, and care across the healthcare system, and is intended for application in developing countries, especially in the Asia Pacific region.

Neurological findings in triosephosphate isomerase deficiency

NARCIS (Netherlands)

Poll-The, B. T.; Aicardi, J.; Girot, R.; Rosa, R.

1985-01-01

Two siblings with hemolytic anemia caused by triosephosphate isomerase deficiency developed a progressive neurological syndrome featuring dystonic movements, tremor, pyramidal tract signs, and evidence of spinal motor neuron involvement. Intelligence was unaffected. The findings in these patients

Clinical utility of dronabinol in the treatment of weight loss associated with HIV and AIDS

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Badowski ME

2016-02-01

Full Text Available Melissa E Badowski,1 Sarah E Perez2 1Department of Pharmacy Practice, Section of Infectious Diseases Pharmacotherapy, College of Pharmacy, University of Illinois at Chicago, Chicago, IL, USA; 2Infectious Diseases Clinic, Tufts Medical Center, Boston, MA, USA Abstract: Since the beginning of the HIV/AIDS epidemic, weight loss has been a common complaint for patients. The use of various definitions defining HIV wasting syndrome has made it difficult to determine its actual prevalence. Despite the use of highly active antiretroviral therapy, it is estimated that the prevalence of HIV wasting syndrome is between 14% and 38%. HIV wasting syndrome may stem from conditions affecting chewing, swallowing, or gastrointestinal motility, neurologic disease affecting food intake or the perception of hunger or ability to eat, psychiatric illness, food insecurity generated from psychosocial or economic concerns, or anorexia due to medications, malabsorption, infections, or tumors. Treatment of HIV wasting syndrome may be managed with appetite stimulants (megestrol acetate or dronabinol, anabolic agents (testosterone, testosterone analogs, or recombinant human growth hormone, or, rarely, cytokine production modulators (thalidomide. The goal of this review is to provide an in-depth evaluation based on existing clinical trials on the clinical utility of dronabinol in the treatment of weight loss associated with HIV/AIDS. Although total body weight gain varies with dronabinol use (–2.0 to 3.2 kg, dronabinol is a well-tolerated option to promote appetite stimulation. Further studies are needed with standardized definitions of HIV-associated weight loss and clinical outcomes, robust sample sizes, safety and efficacy data on chronic use of dronabinol beyond 52 weeks, and associated virologic and immunologic outcomes. Keywords: dronabinol, weight loss, HIV/AIDS, HIV wasting syndrome, cachexia

HIV Genotypic Resistance Testing

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... Disorders Fibromyalgia Food and Waterborne Illness Fungal Infections Gout Graves Disease Guillain-Barré Syndrome Hashimoto Thyroiditis Heart ... antiretroviral therapy (ART) drugs. The test analyzes the genes of the HIV strain infecting the person to ...

Plummer-Vinson syndrome

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Novacek Gottfried

2006-09-01

Full Text Available Abstract Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs. Exact data about epidemiology of the syndrome are not available; the syndrome is extremely rare. Most of the patients are white middle-aged women, in the fourth to seventh decade of life but the syndrome has also been described in children and adolescents. The dysphagia is usually painless and intermittent or progressive over years, limited to solids and sometimes associated with weight loss. Symptoms resulting from anemia (weakness, pallor, fatigue, tachycardia may dominate the clinical picture. Additional features are glossitis, angular cheilitis and koilonychia. Enlargement of the spleen and thyroid may also be observed. One of the most important clinical aspects of Plummer-Vinson syndrome is the association with upper alimentary tract cancers. Etiopathogenesis of Plummer-Vinson syndrome is unknown. The most important possible etiological factor is iron deficiency. Other possible factors include malnutrition, genetic predisposition or autoimmune processes. Plummer-Vinson syndrome can be treated effectively with iron supplementation and mechanical dilation. In case of significant obstruction of the esophageal lumen by esophageal web and persistent dysphagia despite iron supplementation, rupture and dilation of the web are necessary. Since Plummer-Vinson syndrome is associated with an increased risk of squamous cell carcinoma of the pharynx and the esophagus, the patients should be followed closely.

Seroprevalence and risk factors of Toxoplasma gondii infection ...

African Journals Online (AJOL)

The infection is also associated with human immune deficiency virus/acquired immunodeficiency syndrome (HIV/AIDS). In Rwanda, the burden and risk factors of T. gondii infection among pregnant women and among HIV infected pregnant women is largely unknown. This cross-sectional study aimed at determining the ...

Pathogenesis of peroxisomal deficiency disorders (Zellweger syndrome may be mediated by misregulation of the GABAergic system via the diazepam binding inhibitor

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Breitling Rainer

2004-03-01

Full Text Available Abstract Background Zellweger syndrome (ZS is a fatal inherited disease caused by peroxisome biogenesis deficiency. Patients are characterized by multiple disturbances of lipid metabolism, profound hypotonia and neonatal seizures, and distinct craniofacial malformations. Median live expectancy of ZS patients is less than one year. While the molecular basis of peroxisome biogenesis and metabolism is known in considerable detail, it is unclear how peroxisome deficiency leads to the most severe neurological symptoms. Recent analysis of ZS mouse models has all but invalidated previous hypotheses. Hypothesis We suggest that a regulatory rather than a metabolic defect is responsible for the drastic impairment of brain function in ZS patients. Testing the hypothesis Using microarray analysis we identify diazepam binding inhibitor/acyl-CoA binding protein (DBI as a candidate protein that might be involved in the pathogenic mechanism of ZS. DBI has a dual role as a neuropeptide antagonist of GABA(A receptor signaling in the brain and as a regulator of lipid metabolism. Repression of DBI in ZS patients could result in an overactivation of GABAergic signaling, thus eventually leading to the characteristic hypotonia and seizures. The most important argument for a misregulation of GABA(A in ZS is, however, provided by the striking similarity between ZS and "benzodiazepine embryofetopathy", a malformation syndrome observed after the abuse of GABA(A agonists during pregnancy. Implications of the hypothesis We present a tentative mechanistic model of the effect of DBI misregulation on neuronal function that could explain some of the aspects of the pathology of Zellweger syndrome.

Vitamin D and polycystic ovary syndrome: an integrating review

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Ione Maria Ribeiro Soares Lopes

2017-04-01

Full Text Available Introduction: Polycystic ovary syndrome (PCOS is the most common endocrinopathyin women of reproductive age. It causes a metabolic syndrome characterized by insulin resistance, hyperinsulinemia, and dyslipidemia. Vitamin D deficiency and its association with PCOS still represents a controversial subject in the literature. Objective: In this context, this study aimed to understand the association between polycystic ovary syndrome and vitamin D deficiency, and how it occurs. Method: It was an integrative review conducted in the PubMed, Scopus, LILACS, and CINAHL databases from August 2016 to January 2017, with a sample of 7 articles analyzed in their entirety. Results: The evidences according to the studies conducted and the conclusions they identified.  Conclusions: It was concluded that we cannot yet assume that vitamin D deficiency contributes to the pathogenesis of PCOS, nor that the syndrome causes vitamin D deficiency, since the studies are controversial and there is a need for research with higher levels of evidence to clarify these doubts.

Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patients.

Science.gov (United States)

Demirdas, S; Dulfer, E; Robert, L; Kempers, M; van Beek, D; Micha, D; van Engelen, B G; Hamel, B; Schalkwijk, J; Loeys, B; Maugeri, A; Voermans, N C

2017-03-01

The tenascin-X (TNX) deficient type Ehlers-Danlos syndrome (EDS) is similar to the classical type of EDS. Because of the limited awareness among geneticists and the challenge of the molecular analysis of the TNXB gene, the TNX-deficient type EDS is probably to be under diagnosed. We therefore performed an observational, cross-sectional study. History and physical examination were performed. Results of serum TNX measurements were collected and mutation analysis was performed by a combination of next-generation sequencing (NGS), Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA). Included were 17 patients of 11 families with autosomal recessive inheritance and childhood onset. All patients had hyperextensible skin without atrophic scarring. Hypermobility of the joints was observed in 16 of 17 patients. Deformities of the hands and feet were observed frequently. TNX serum level was tested and absent in 11 patients (seven families). Genetic testing was performed in all families; 12 different mutations were detected, most of which are suspected to lead to non-sense mRNA mediated decay. In short, patients with the TNX-deficient type EDS typically have generalized joint hypermobility, skin hyperextensibility and easy bruising. In contrast to the classical type, the inheritance pattern is autosomal recessive and atrophic scarring is absent. Molecular analysis of TNXB in a diagnostic setting is challenging. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Visual Colour-Impulse Stimulation Treatment of Hyperactivity with Deficiency of Attention at Children

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I.E. Рoverennova

2009-06-01

Full Text Available The causes of occurrence and development of the syndrome of hyperactivity with deficiency of attention at children аre considered. The diagnostic complex for application at patients with the given syndrome in conditions of polyclinic is under the study. The new technique in complex treatment of hyperactivity with deficiency of attention with application of visual colour-impulse stimulation for easing emotional tension (“ASIR” is proposed.

HIV- and AIDS-associated neurocognitive functioning in Zambia – a perspective based on differences between the genders

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Kabuba N

2016-08-01

Full Text Available Norma Kabuba,1,2 J Anitha Menon,1 Donald R Franklin Jr,3 Robert K Heaton,3 Knut A Hestad2,4,5 1Department of Psychology, The University of Zambia, Lusaka, Zambia; 2Department of Psychology, Norwegian University of Science and Technology, Trondheim, Norway; 3Department of Psychiatry, University of California, San Diego, CA, USA; 4Department of Research, Innlandet Hospital Trust, Hamar, Norway; 5Department of Public Health, Hedmark University of Applied Sciences, Elverum, Norway Abstract: Human immunodeficiency virus (HIV infection and acquired immune deficiency syndrome (AIDS are frequently associated with neurocognitive impairment (NCI. However, few studies have examined the interrelationship between gender and NCI in the HIV and AIDS population. This cross-sectional study examined the neurocognitive (NC functioning of HIV-infected male and female adults from urban Zambia. The participants included 266 HIV seropositive (HIV+ adults (males [n=107] and females [n=159]. Participants completed NC assessment by means of a comprehensive test battery using normative data from 324 HIV-seronegative (HIV- controls. The norms corrected for effects of age, education, and gender in the general population, and the test battery measures domains of attention/working memory (learning and delayed recall, executive function, verbal fluency, processing speed, verbal and visual episodic memory, and fine motor skills. An overall comparison of the HIV+ male and female participants yielded no statistically significant differences. Analysis of covariance results controlling for disease characteristics showed that HIV+ female participants had worse delayed recall scores than males, F(1,117 =9.70, P=0.002, partial ƞ2=0.077. The females also evidenced a trend toward greater impairment on learning efficiency (P=0.015. The findings suggest that there are gender-related differences in NCI after controlling for disease characteristics. It was observed that although the HIV

Mucocutaneous manifestations of HIV infection: a retrospective analysis of 145 cases in a Chinese population in Malaysia.

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Jing, W; Ismail, R

1999-06-01

Mucocutaneous lesions directly related to human immunodeficiency virus (HIV) infection usually present as initial manifestations of immune deficiency. The most common mucocutaneous lesions are Kaposi's sarcoma, histoplasmosis, oro-esophageal candidiasis, oral hairy leukoplakia, and, in Asia, Penicillium marneffei infection. Non-HIV-related skin lesions, such as psoriasis, seborrheic dermatitis, and nodular prurigo, may be the initial presentation among HIV infected patients attending outpatient clinics. A retrospective analysis was performed on 145 HIV-positive Malaysians of Chinese descent from two centers at the University Hospital Kuala Lumpur (UHKL) and the General Hospital Kuala Lumpur (GHKL) from March 1997 to February 1998. Demographic data and clinical data were analyzed. The analysis showed that 104 out of 145 patients had mucocutaneous disorders (71.7%). In the study, there were 100 men (96.2%) and four women (3.8%). The majority of patients were in the age group 20-50 years. The patients who presented with mucocutaneous disease also had low CD4+ T-lymphocyte counts and most had acquired immunodeficiency syndrome (AIDS) defining illness. The number of cases with generalized hyperpigmentation was very high in the group (35.9%), followed by nodular prurigo (29.7%) and xerosis (27.6%). Seborrheic dermatitis was seen in 20.7% of cases, with psoriasis in 8.3%. The most common infections were oral candidiasis (35.9%), tinea corporis and onychomycosis (9.7%), and herpes infection (5.5%); however, mucocutaneous manifestations of Kaposi's sarcoma were rare. The results suggest that mucocutaneous findings are useful clinical predictors of HIV infection or signs of the presence of advanced HIV infection.

Three Sides of a Coin in the Life of People Living with HIV (PLWH).

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Khakha, Deepika Cecil; Kapoor, Bimla; Manju; Sharma, Singh K

2015-01-01

Human Immunodeficiency Virus (HIV)/Acquired Immune Deficiency Syndrome (AIDS) is a global epidemic, a major challenge as a health care problem of modern times. As the survival of life increases from the time of an HIV-positive diagnosis, growing concern for the quality of the life has been extended. To assess and correlate the coping, social support and quality of life. A descriptive cross-sectional study was conducted at antiretroviral therapy (ART) clinic of AIIMS, New Delhi. The sample comprised people living with HIV/AIDS (PLWHA) who were seropositive for last six months. The tools used to assess the coping, social support and quality of life were BREF COPE, MOS social support survey and WHO QOL-HIV BREF, respectively. Permission was taken from the authors of the tools. The ethical permission was taken from the center. The coping, social support and quality of life were assessed and their association was observed. Data were analyzed using SPSS 17. The most commonly used coping styles were acceptance and religion. The social support used by most of PLWHA was tangible support and affectionate support, while the least used support was positive social interaction. The lowest quality of life is seen in social relations, followed by physical quality of life. There was positive association seen between coping and quality of life as well as social support and quality of life. There was positive association between coping, social support and quality of life.

Clinical utility of dronabinol in the treatment of weight loss associated with HIV and AIDS.

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Badowski, Melissa E; Perez, Sarah E

2016-01-01

Since the beginning of the HIV/AIDS epidemic, weight loss has been a common complaint for patients. The use of various definitions defining HIV wasting syndrome has made it difficult to determine its actual prevalence. Despite the use of highly active antiretroviral therapy, it is estimated that the prevalence of HIV wasting syndrome is between 14% and 38%. HIV wasting syndrome may stem from conditions affecting chewing, swallowing, or gastrointestinal motility, neurologic disease affecting food intake or the perception of hunger or ability to eat, psychiatric illness, food insecurity generated from psychosocial or economic concerns, or anorexia due to medications, malabsorption, infections, or tumors. Treatment of HIV wasting syndrome may be managed with appetite stimulants (megestrol acetate or dronabinol), anabolic agents (testosterone, testosterone analogs, or recombinant human growth hormone), or, rarely, cytokine production modulators (thalidomide). The goal of this review is to provide an in-depth evaluation based on existing clinical trials on the clinical utility of dronabinol in the treatment of weight loss associated with HIV/AIDS. Although total body weight gain varies with dronabinol use (-2.0 to 3.2 kg), dronabinol is a well-tolerated option to promote appetite stimulation. Further studies are needed with standardized definitions of HIV-associated weight loss and clinical outcomes, robust sample sizes, safety and efficacy data on chronic use of dronabinol beyond 52 weeks, and associated virologic and immunologic outcomes.

Korsakoff's syndrome is preventable

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Oudman, Erik; Wijnia, Jan W.

2014-01-01

Wernicke-Korsakoff syndrome (WKS) is a life-threatening neuropsychiatric disorder caused by thiamine (vitamin B1) deficiency. Wernicke-Korsakoff syndrome is associated with mammillary body edema and small vessel ischemia. Many patients who develop WKS have a history of serious alcoholism and

Intranasal siRNA administration reveals IGF2 deficiency contributes to impaired cognition in Fragile X syndrome mice.

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Pardo, Marta; Cheng, Yuyan; Velmeshev, Dmitry; Magistri, Marco; Eldar-Finkelman, Hagit; Martinez, Ana; Faghihi, Mohammad A; Jope, Richard S; Beurel, Eleonore

2017-03-23

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.

Obesity as an Emerging Risk Factor for Iron Deficiency

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Elmar Aigner

2014-09-01

Full Text Available Iron homeostasis is affected by obesity and obesity-related insulin resistance in a many-facetted fashion. On one hand, iron deficiency and anemia are frequent findings in subjects with progressed stages of obesity. This phenomenon has been well studied in obese adolescents, women and subjects undergoing bariatric surgery. On the other hand, hyperferritinemia with normal or mildly elevated transferrin saturation is observed in approximately one-third of patients with metabolic syndrome (MetS or nonalcoholic fatty liver disease (NAFLD. This constellation has been named the “dysmetabolic iron overload syndrome (DIOS”. Both elevated body iron stores and iron deficiency are detrimental to health and to the course of obesity-related conditions. Iron deficiency and anemia may impair mitochondrial and cellular energy homeostasis and further increase inactivity and fatigue of obese subjects. Obesity-associated inflammation is tightly linked to iron deficiency and involves impaired duodenal iron absorption associated with low expression of duodenal ferroportin (FPN along with elevated hepcidin concentrations. This review summarizes the current understanding of the dysregulation of iron homeostasis in obesity.

Detection of HIV-1 and Human Proteins in Urinary Extracellular Vesicles from HIV+ Patients

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Samuel I. Anyanwu

2018-01-01

Full Text Available Background. Extracellular vesicles (EVs are membrane bound, secreted by cells, and detected in bodily fluids, including urine, and contain proteins, RNA, and DNA. Our goal was to identify HIV and human proteins (HPs in urinary EVs from HIV+ patients and compare them to HIV− samples. Methods. Urine samples were collected from HIV+ (n=35 and HIV− (n=12 individuals. EVs were isolated by ultrafiltration and characterized using transmission electron microscopy, tandem mass spectrometry (LC/MS/MS, and nanoparticle tracking analysis (NTA. Western blots confirmed the presence of HIV proteins. Gene ontology (GO analysis was performed using FunRich and HIV Human Interaction database (HHID. Results. EVs from urine were 30–400 nm in size. More EVs were in HIV+ patients, P<0.05, by NTA. HIV+ samples had 14,475 HPs using LC/MS/MS, while only 111 were in HIV−. HPs in the EVs were of exosomal origin. LC/MS/MS showed all HIV+ samples contained at least one HIV protein. GO analysis showed differences in proteins between HIV+ and HIV− samples and more than 50% of the published HPs in the HHID interacted with EV HIV proteins. Conclusion. Differences in the proteomic profile of EVs from HIV+ versus HIV− samples were found. HIV and HPs in EVs could be used to detect infection and/or diagnose HIV disease syndromes.

Malnutrition Tests

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... B Vitamins , Fecal Fat , Leptin Conditions: Metabolic Syndrome , Alcoholism , Celiac Disease , Cystic Fibrosis , Diarrhea , HIV , Pancreatic Insufficiency , Pregnancy , Vitamin K Deficiency , Malabsorption Elsewhere On The Web ...

Sexual Practices That May Favor the Transmission of HIV in a Rural Community in Nigeria.

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Ajuwon, A J; Oladepo, O; Adeniyi, J D; Ches, W R

1993-01-01

The Human Immunodeficiency Virus (HIV) and Acquired Immune Deficiency Syndrome (AIDS) have been documented as a primarily urban phenomenon in Nigeria. The risk of spread to rural communities, where the largest portion of the population still lives, exists. This article presents a qualitative research study that was designed to explore sexual practices in a rural Nigerian community that held potential risk for introducing HIV into the community and for enabling HIV transmission should an infected person enters local sexual networks, in the small town of Ago-Are, Oyo State. Seven key informant interviews, in-depth interviews and observations with five commercial sex workers (CSWs), and focus group discussions (FGD) with married and single male and female residents were held. CSWs were found to be the most likely route whereby HIV could enter the community, both because of their own mobility, being resident in the community on average only nine months, and because of the mobility of their main clients, migrant farm laborers and commercial drivers. This did not preclude local patronage, which was more discrete. Another possible point of entry for HIV was through casual sexual relations during ceremonies, holidays and festivals, when towns' people working in the large urban centers came home. Within the community, extramarital sexual relations were posited as a likely route for spread within the community. The continued existence of a taboo against sexual intercourse while a mother is breastfeeding, frequent informal divorces and a tendency toward polygamy were identified by FGD members as factors that encourage extra-marital sex. The strong role that social and religious associations play in the community was identified as an ideal mechanism for health education to prevent HIV/AIDS.

Growth without growth hormone in combined pituitary hormone deficiency caused by pituitary stalk interruption syndrome

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Sang Soo Lee

2017-03-01

Full Text Available Growth hormone (GH is an essential element for normal growth. However, reports of normal growth without GH have been made in patients who have undergone brain surgery for craniopharyngioma. Normal growth without GH can be explained by hyperinsulinemia, hyperprolactinemia, elevated leptin levels, and GH variants; however, its exact mechanism has not been elucidated yet. We diagnosed a female patient aged 13 with combined pituitary hormone deficiency (CPHD caused by pituitary stalk interruption syndrome (PSIS. The patient has experienced recurrent hypoglycemic seizures since birth, but reached the height of 160 cm at the age of 13, showing normal growth. She grew another 8 cm for 3 years after the diagnosis, and she reached her final adult height of 168 cm which was greater than the midparental height, at the age of 16. The patient's blood GH and insulin-like growth factor-I levels were consistently subnormal, although her insulin levels were normal. Her physical examination conducted at the age of 15 showed truncal obesity, dyslipidemia, and osteoporosis, which are metabolic features of GH deficiency (GHD. Herein, we report a case in which a PSIS-induced CPHD patient attained her final height above mid parental height despite a severe GHD.

Short bowel syndrome presenting with re-feeding syndrome in a Han Chinese patient: a case report

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Xie Ying

2012-05-01

Full Text Available Abstract Introduction Re-feeding syndrome is common in patients with long-term starvation. To the best of our knowledge this case is the first to report a patient with short bowel syndrome developing re-feeding syndrome 12 years after the bowel resection. Case presentation A 33-year-old Chinese Han man underwent small bowel resection leaving only 40 cm of bowel, without an ileocecal valve, 12 years previously. At that time he was weaned from total parenteral nutrition and had a normal diet. He later developed features of severe malnutrition, and when parenteral nutrition was given, he developed re-feeding syndrome. Conclusion Although re-feeding syndrome is a common complication in patients with any kind of nutritional support, and known to us for many years, high risk patients still need more attention and monitoring. Re-feeding syndrome in this case was not only a macronutrients deficiency but also a micronutrient deficient, and prompt supplement therapy and organ function support proved to be successful.