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Primary Immunodeficiency

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https://www.readbyqxmd.com/read/27926760/epidermal-nerve-fiber-quantification-in-patients-with-erythromelalgia
#1
William G Mantyh, P James B Dyck, Peter J Dyck, Janean K Engelstad, William J Litchy, Paola Sandroni, Mark D P Davis
Importance: Erythromelalgia is a clinical diagnosis based on intermittent warmth, erythema, and pain in the distal extremities. One problem facing physicians is how to objectively test for this disease. Given that other painful conditions of the distal extremities (ie, neuropathy related to human immunodeficiency virus, diabetes, or Fabry disease) can be evaluated with a skin biopsy to visualize pathologically decreased densities of the small nerve fibers that innervate the epidermis, one hypothesis is that erythromelalgia could similarly be associated with a loss of epidermal nerve fiber density (ENFD)...
December 7, 2016: JAMA Dermatology
https://www.readbyqxmd.com/read/27924513/reproductive-health-service-utilization-and-social-determinants-among-married-female-rural-to-urban-migrants-in-two-metropolises-china
#2
Zhi-Yong Liu, Jiang Li, Yang Hong, Lan Yao
Reproductive health (RH) education and services of female migrants in China have become an important health issue. This research aimed to investigate the RH knowledge and utilization among married female migrants, and to explore the influencing factors from the perspectives of population and sociology. We conducted a cross-section survey in Shenzhen and Wuhan, China, using the purposive sampling method. A total of 1021 rural-to-urban married migrants were recruited, with 997 valid survey results obtained. A face-to-face structured questionnaire survey was used, with primary focus on knowledge of fertility, contraception, family planning policy and sexual transmitted diseases/acquired immunodeficiency syndrome (STD/AIDs), and RH service utilization...
December 2016: Journal of Huazhong University of Science and Technology. Medical Sciences
https://www.readbyqxmd.com/read/27923951/maternal-antibody-responses-and-nonprimary-congenital-cytomegalovirus-infection-of-hiv-1-exposed-infants
#3
Kristy M Bialas, Daniel Westreich, Eduardo Cisneros de la Rosa, Cody S Nelson, Lawrence M Kauvar, Tong-Ming Fu, Sallie R Permar
Risk of congenital cytomegalovirus (cCMV) transmission is highly dependent on the presence of preexisting maternal immunity, with the lowest rates observed in CMV-seroimmune populations. Among infants of CMV-seroimmune women, those who are exposed to human immunodeficiency virus (HIV) have an increased risk of acquiring cCMV infection as compared to HIV-unexposed infants. To better understand the risk factors of nonprimary cCMV transmission in HIV-infected women, we performed a case-control study in which CMV-specific plasma antibody responses from 19 CMV-transmitting and 57 CMV-nontransmitting women with chronic CMV/HIV coinfection were evaluated for the ability to predict the risk of cCMV infection...
December 15, 2016: Journal of Infectious Diseases
https://www.readbyqxmd.com/read/27917823/3d-bioprinting-of-functional-human-skin-production-and-in-vivo-analysis
#4
Nieves Cubo, Marta Garcia, Juan F Del Cañizo, Diego Velasco, Jose L Jorcano
Significant progress has been made over the past 25 years in the development of in vitro-engineered substitutes that mimic human skin, either to be used as grafts for the replacement of lost skin, or for the establishment of in vitro human skin models. In this sense, laboratory-grown skin substitutes containing dermal and epidermal components offer a promising approach to skin engineering. In particular, a human plasma-based bilayered skin generated by our group, has been applied successfully to treat burns as well as traumatic and surgical wounds in a large number of patients in Spain...
December 5, 2016: Biofabrication
https://www.readbyqxmd.com/read/27917630/a-novel-cybb-mutation-in-chronic-granulomatous-disease-in-iran
#5
Shaghayegh Tajik, Mohsen Badalzadeh, Mohammad Reza Fazlollahi, Massoud Houshmand, Fariborz Zandieh, Shamim Khandan, Zahra Pourpak
Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder due to a genetic defect in one of the components of nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex. This complex is composed of membrane-bound gp91-phox and p22-phox subunits, and cytosolic subunits consisting of p47-phox, p67-phox, and p40-phox. A mutation in CYBB gene encoding gp91-phox located on chromosome Xp21.1, leads to X-linked CGD. Herein, we report a 4-year-old Iranian boy presented with episodes of recurrent fever, cervical lymphadenopathy, and abdominal abscesses...
October 2016: Iranian Journal of Allergy, Asthma, and Immunology
https://www.readbyqxmd.com/read/27914932/detection-of-human-immunodeficiency-virus-rnas-in-living-cells-using-spinach-rna-aptamers
#6
Brandon D Burch, Carolina Garrido, David M Margolis
Many techniques currently used to measure HIV RNA production in cells suffer from limitations that include high background signal or the potential to destroy cellular context. Fluorophore-binding RNA aptamers offer the potential for visualizing RNAs directly in living cells with minimal cellular perturbation. We inserted a sequence encoding a fluorophore-binding RNA aptamer, known as Spinach, into the HIV genome such that predicted RNA secondary structures in both Spinach and HIV were preserved. Chimeric HIV-Spinach RNAs were functionally validated in vitro by testing their ability to enhance the fluorescence of a conditional fluorophore (DFHBI), which specifically binds Spinach...
November 30, 2016: Virus Research
https://www.readbyqxmd.com/read/27912315/genetics-of-infectious-and-inflammatory-diseases-overlapping-discoveries-from-association-and-exome-sequencing-studies
#7
David Langlais, Nassima Fodil, Philippe Gros
Genome technologies have defined a complex genetic architecture in major infectious, inflammatory, and autoimmune disorders. High density marker arrays and Immunochips have powered genome-wide association studies (GWAS) that have mapped nearly 450 genetic risk loci in 22 major inflammatory diseases, including a core of common genes that play a central role in pathological inflammation. Whole-exome and whole-genome sequencing have identified more than 265 genes in which mutations cause primary immunodeficiencies and rare forms of severe inflammatory bowel disease...
December 1, 2016: Annual Review of Immunology
https://www.readbyqxmd.com/read/27906032/infection-of-rhesus-macaques-with-a-pool-of-simian-immunodeficiency-virus-with-the-envelope-genes-from-acute-hiv-1-infections
#8
Kendall C Krebs, Meijuan Tian, Mohammed Asmal, Binhua Ling, Kenneth Nelson, Kenneth Henry, Richard Gibson, Yuejin Li, Weining Han, Robin J Shattock, Ronald S Veazey, Norman Letvin, Eric J Arts, Yong Gao
BACKGROUND: New simian-human immunodeficiency chimeric viruses with an HIV-1 env (SHIVenv) are critical for studies on HIV pathogenesis, vaccine development, and microbicide testing. Macaques are typically exposed to single CCR5-using SHIVenv which in most instances does not reflect the conditions during acute/early HIV infection (AHI) in humans. Instead of individual and serial testing new SHIV constructs, a pool of SHIVenv_B derived from 16 acute HIV-1 infections were constructed using a novel yeast-based SHIV cloning approach and then used to infect macaques...
November 25, 2016: AIDS Research and Therapy
https://www.readbyqxmd.com/read/27906011/prevalence-of-hiv-and-hepatitis-b-coinfection-in-ghana-a-systematic-review-and-meta-analysis
#9
REVIEW
Akosua Adom Agyeman, Richard Ofori-Asenso
BACKGROUND: Human immunodeficiency virus (HIV) and hepatitis B virus (HBV) coinfection has been associated with higher morbidity and mortality and may impact significantly on healthcare resource utilization. However, in Ghana, accurate estimates of the prevalence of HIV/HBV coinfection needed to inform policy decisions and the design of public health interventions are currently lacking. In this study, our aim was to determine the HIV/HBV coinfection prevalence rate in Ghana. METHODS: Primary studies reporting prevalence of HIV/HBV coinfection in Ghana were retrieved through searches conducted in PubMed, science direct, Google scholar and Africa journals online (AJOL) databases...
May 17, 2016: AIDS Research and Therapy
https://www.readbyqxmd.com/read/27905984/assessing-the-sensitivity-and-specificity-of-first-response-hiv-1-2-test-kit-with-whole-blood-and-serum-samples-a-cross-sectional-study
#10
Raymond Boadu, George Darko, Priscilla Nortey, Patricia Akweongo, Bismark Sarfo
BACKGROUND: Human immunodeficiency virus (HIV) Rapid diagnostic Test (RDT) kits are the preferred assays for HIV testing in many countries. Prevention of Mother-to-Child Transmission, Know Your Status Campaigns, Blood-Safety, Voluntary Counseling and Testing are major strategies adapted to control transmission of the virus and the pivot of these interventions is either screening or diagnosing individuals through testing. There are reports of inconsistent sensitivity and specificity with whole blood and serum samples collected from the same individual...
February 16, 2016: AIDS Research and Therapy
https://www.readbyqxmd.com/read/27903799/cxcr6-mediated-sivagmsab-entry-into-sabaeus-african-green-monkey-lymphocytes-implicates-widespread-use-of-non-ccr5-pathways-in-natural-host-infections
#11
Katherine S Wetzel, Yanjie Yi, Sarah T C Elliott, Dino Romero, Beatrice Jacquelin, Beatrice H Hahn, Michaela Muller-Trutwin, Cristian Apetrei, Ivona Pandrea, Ronald G Collman
: African green monkeys (AGM) and sooty mangabeys (SM) are well-studied natural hosts of SIV, which do not progress to AIDS when infected with their species-specific viruses. SIV natural hosts express very low levels of the canonical entry coreceptor CCR5, and recent studies have shown that CCR5 is dispensable for SIV infection of SM in vivo, and blocking CCR5 does not prevent ex vivo infection of PBMC from SM or vervet AGM. In both hosts, CXCR6 is an efficient entry pathway in vitro...
November 30, 2016: Journal of Virology
https://www.readbyqxmd.com/read/27902714/evaluation-of-the-activity-of-lamivudine-and-zidovudine-against-ebola-virus
#12
Yu Cong, Julie Dyall, Brit J Hart, Lisa Evans DeWald, Joshua C Johnson, Elena Postnikova, Huanying Zhou, Robin Gross, Oscar Rojas, Isis Alexander, Nicole Josleyn, Tengfei Zhang, Julia Michelotti, Krisztina Janosko, Pamela J Glass, Mike Flint, Laura K McMullan, Christina F Spiropoulou, Tim Mierzwa, Rajarshi Guha, Paul Shinn, Sam Michael, Carleen Klumpp-Thomas, Crystal McKnight, Craig Thomas, Ann E Eakin, Kathleen G O'Loughlin, Carol E Green, Paul Catz, Jon C Mirsalis, Anna N Honko, Gene G Olinger, Richard S Bennett, Michael R Holbrook, Lisa E Hensley, Peter B Jahrling
In the fall of 2014, an international news agency reported that patients suffering from Ebola virus disease (EVD) in Liberia were treated successfully with lamivudine, an antiviral drug used to treat human immunodeficiency virus-1 and hepatitis B virus infections. According to the report, 13 out of 15 patients treated with lamivudine survived and were declared free from Ebola virus disease. In this study, the anti-Ebola virus (EBOV) activity of lamivudine and another antiretroviral, zidovudine, were evaluated in a diverse set of cell lines against two variants of wild-type EBOV...
2016: PloS One
https://www.readbyqxmd.com/read/27898566/antiretroviral-therapy-initiation-is-not-associated-with-risky-sexual-behavior-among-heterosexual-human-immunodeficiency-virus-infected-persons-in-serodiscordant-partnerships
#13
Andrew Mujugira, Connie Celum, Kenneth Ngure, Katherine K Thomas, Elly Katabira, Jared M Baeten
BACKGROUND: Few prospective studies have assessed whether antiretroviral therapy (ART) use is associated with changes in sexual risk behavior of human immunodeficiency virus (HIV)-infected persons in known HIV-serodiscordant partnerships. METHODS: We conducted a longitudinal analysis of HIV-infected persons with known uninfected partners enrolled in the Partners Pre-Exposure Prophylaxis Study in Kenya and Uganda. Antiretroviral therapy use and self-reported sexual behavior were ascertained every 3 months...
November 28, 2016: Sexually Transmitted Diseases
https://www.readbyqxmd.com/read/27896807/fdg-pet-ct-imaging-of-therapeutic-response-in-granulomatous-lymphocytic-interstitial-lung-disease-glild-in-common-variable-immunodeficiency-cvid
#14
S Jolles, E Carne, M Brouns, T El-Shanawany, P Williams, C Marshall, P Fielding
Common variable immunodeficiency (CVID) is the most common severe adult primary immunodeficiency and is characterized by a failure to produce antibodies leading to recurrent predominantly sinopulmonary infections. Improvements in the prevention and treatment of infection with immunoglobulin replacement and antibiotics have resulted in malignancy, autoimmune, inflammatory and lymphoproliferative disorders emerging as major clinical challenges in the management of patients who have CVID. In a proportion of CVID patients, inflammation manifests as granulomas that frequently involve the lungs, lymph nodes, spleen and liver and may affect almost any organ...
November 28, 2016: Clinical and Experimental Immunology
https://www.readbyqxmd.com/read/27896283/a-potential-founder-variant-in-carmil2-rltpr-in-three-norwegian-families-with-warts-molluscum-contagiosum-and-t-cell-dysfunction
#15
Hanne S Sorte, Liv T Osnes, Børre Fevang, Pål Aukrust, Hans C Erichsen, Paul H Backe, Tore G Abrahamsen, Ole B Kittang, Torstein Øverland, Shalini N Jhangiani, Donna M Muzny, Magnus D Vigeland, Pubudu Samarakoon, Tomasz Gambin, Zeynep H C Akdemir, Richard A Gibbs, Olaug K Rødningen, Robert Lyle, James R Lupski, Asbjørg Stray-Pedersen
BACKGROUND: Four patients from three Norwegian families presented with a common skin phenotype of warts, molluscum contagiosum, and dermatitis since early childhood, and various other immunological features. Warts are a common manifestation of human papilloma virus (HPV), but when they are overwhelming, disseminated and/or persistent, and presenting together with other immunological features, a primary immunodeficiency disease (PIDD) may be suspected. METHODS AND RESULTS: The four patients were exome sequenced as part of a larger study for detecting genetic causes of primary immunodeficiencies...
November 2016: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/27895845/a-trial-of-a-7-valent-pneumococcal-conjugate-vaccine-in-hiv-infected-adults
#16
Neil French, Stephen B Gordon, Thandie Mwalukomo, Sarah A White, Gershom Mwafulirwa, Herbert Longwe, Martin Mwaiponya, Eduard E Zijlstra, Malcolm E Molyneux, Charles F Gilks
BACKGROUND: Streptococcus pneumoniae is a leading and serious coinfection in adults with human immunodeficiency virus (HIV) infection, particularly in Africa. Prevention of this disease by vaccination with the current 23-valent polysaccharide vaccine is suboptimal. Protein conjugate vaccines offer a further option for protection, but data on their clinical efficacy in adults are needed. METHODS: In this double-blind, randomized, placebo-controlled clinical efficacy trial, we studied the efficacy of a 7-valent conjugate pneumococcal vaccine in predominantly HIV-infected Malawian adolescents and adults who had recovered from documented invasive pneumococcal disease...
September 2016: Malawi Medical Journal: the Journal of Medical Association of Malawi
https://www.readbyqxmd.com/read/27894450/immunodeficiency-presenting-as-an-undiagnosed-disease
#17
REVIEW
John M Routes, James W Verbsky
Although primary immunodeficiencies typically present with recurrent, chronic, or severe infections, autoimmune manifestations frequently accompany these disorders and may be the initial clinical manifestations. The presence of 2 or more autoimmune disorders, unusual severe atopic disease, or a combination of these disorders should lead a clinician to consider primary immunodeficiency disorders.
February 2017: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/27893166/the-association-between-parental-consanguinity-and-primary-immunodeficiency-diseases-a-systematic-review-and-meta-analysis
#18
Hasti Hadizadeh, M Masoud Salehi, Shabnam Khoramnejad, Kia Vosoughi, Nima Rezaei
BACKGROUND: We aimed to establish the prevalence of parental consanguinity among patients with primary immunodeficiency diseases (PID), and compare the prevalence with the general population. METHOD: We searched PubMed, EMBASE, and Scopus for studies mentioning parental consanguinity prevalence in PID patients and calculated the prevalence odds ratio (POR) of parental consanguinity in each study, compared to a matched healthy population. RESULTS: We identified 21 eligible studies with a total population of 18091 accounting for sample overlap...
November 28, 2016: Pediatric Allergy and Immunology
https://www.readbyqxmd.com/read/27890707/novel-mutation-in-dock8-hies-with-severe-phenotype-and-successful-transplantation
#19
Latifa Al Shekaili, Farrukh Sheikh, Sulaiman Al Gazlan, Hasan Al Dhekri, Hamoud Al Mousa, Abdulaziz Al Ghonaium, Bander Al Saud, Saleh Al Mohsen, Agha M Rehan Khaliq, Safiah Al Sumayli, Mufarreh Al Zahrani, Anas Dababo, Ammar AlKawi, Abbas Hawwari, Rand Arnaout
BACKGROUND: Hyper-IgE syndrome (HIES) due to DOCK8 deficiency is an autosomal recessive (AR) primary combined immunodeficiency which results in significant morbidity and mortality at a young age. Different mutations in the DOCK8 gene can lead to variable severity of the disease. OBJECTIVE: We evaluated the genetic mutations in three related patients with severe clinical manifestations suggestive of AR HIES. We also explored whether treatment with stem cell transplantation could lead to complete disease resolution...
November 23, 2016: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/27889361/adult-bronchiectasis-patients-a-first-look-at-the-united-states-bronchiectasis-research-registry
#20
Timothy R Aksamit, Anne E O'Donnell, Alan Barker, Kenneth N Olivier, Kevin L Winthrop, M Leigh Anne Daniels, Margaret Johnson, Edward Eden, David Griffith, Michael Knowles, Mark Metersky, Matthias Salathe, Byron Thomashow, Gregory Tino, Gerard Turino, Betsy Carretta, Charles L Daley
OBJECTIVE: We sought to describe the characteristics of adult bronchiectasis patients enrolled in the United States Bronchiectasis Research Registry (BRR). METHODS: The BRR is a database of non-cystic fibrosis bronchiectasis (NCFB) patients enrolled at 13 sites within the United States. Baseline demographic, spirometric, imaging, microbiologic, and therapeutic data were entered into a central web-based database. Patients were subsequently analyzed by the presence NTM...
November 23, 2016: Chest
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