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primary immunodeficiencies

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https://www.readbyqxmd.com/read/29027387/safety-and-efficacy-of-ziagen-abacavir-sulfate-in-hiv-infected-korean-patients
#1
Heawon Ann, Ki Hyon Kim, Hyun Young Choi, Hyun Ha Chang, Sang Hoon Han, Kye Hyung Kim, Jin Soo Lee, Yeon Sook Kim, Kyung Hwa Park, Young Keun Kim, Jang Wook Sohn, Na Ra Yun, Chang Seop Lee, Young Wha Choi, Yil Seob Lee, Shin Woo Kim
BACKGROUND: Abacavir is a widely-used nucleoside reverse transcriptase inhibitor for the treatment of human immunodeficiency virus (HIV) infection. Mandatory postmarketing surveillance was conducted in Korea to monitor the safety and evaluate the effectiveness of Ziagen® (abacavir sulfate 300 mg; ViiV Healthcare, Middlesex, UK). MATERIALS AND METHODS: An open-label, multi-center, non-interventional postmarketing surveillance study was conducted from June 2010 to June 2016 to monitor the safety and effectiveness of Ziagen across 12 hospitals in Korea...
September 2017: Infection & Chemotherapy
https://www.readbyqxmd.com/read/29025965/inherited-il-12r%C3%AE-1-deficiency-in-a-child-with-bcg-adenitis-and-oral-candidiasis-a-case-report
#2
Nevin Hatipoglu, B Haluk Güvenç, Caroline Deswarte, Kaya Koksalan, Stéphanie Boisson-Dupuis, Jean-Laurent Casanova, Jacinta Bustamante
Tuberculosis is a major worldwide problem, and protection from it is achieved mainly by live attenuated bacille Calmette-Guérin vaccine, which is capable of causing disease in immunocompromised host. Oral thrush is abnormal in healthy children, which suggests an underlying immunodeficiency. Mendelian susceptibility to mycobacterial disease is a rare primary immunodeficiency characterized by a selective predisposition to weakly virulent Mycobacteria and Salmonella and also predisposition to chronic mucocutaneous candidiasis...
October 12, 2017: Pediatrics
https://www.readbyqxmd.com/read/29024499/male-partner-involvement-on-initiation-and-sustainment-of-exclusive-breastfeeding-among-hiv-infected-post-partum-women-study-protocol-for-a-randomized-controlled-trial
#3
Dorothy Ihekuna, Neal Rosenburg, William Nii Ayitey Menson, Semiu Olatunde Gbadamosi, John Olajide Olawepo, Adaeze Chike-Okoli, Chad Cross, Chima Onoka, Echezona E Ezeanolue
Exclusive Breastfeeding (EBF) among human immunodeficiency virus (HIV)-infected mothers is known to be associated with a sustained and significant reduction in HIV transmission and has the potential to reduce infant and under-five mortality. Research shows that EBF is not common in many HIV-endemic, resource-limited settings despite recommendations by the World Health Organization. Although evidence abounds that male partner involvement increases HIV testing and uptake and retention of prevention of mother-to-child transmission interventions, few studies have evaluated the impact of male partners' involvement and decision-making on initiation, maintenance, and sustainment of EBF...
October 10, 2017: Maternal & Child Nutrition
https://www.readbyqxmd.com/read/29024204/establishment-of-a-dog-primary-prostate-cancer-organoid-using-the-urine-cancer-stem-cells
#4
Tatsuya Usui, Masashi Sakurai, Shimpei Nishikawa, Koji Umata, Yuki Nemoto, Tomoya Haraguchi, Kazuhito Itamoto, Takuya Mizuno, Shunsuke Noguchi, Takashi Mori, Satomi Iwai, Takayuki Nakagawa, Hideyuki Yamawaki, Takashi Ohama, Koichi Sato
Dog spontaneously develops prostate cancer (PC) like human. Since most dogs with PC have poor prognosis, they are expected to become a translational model for human advanced PC. Stem cell-derived 3D organoid culture could recapitulate organ structures and physiology. Using patient tissues, human PC organoid culture system was established. Recent study showed that urine cells also possess the characteristic of stem cells. However, the urine cell-derived PC organoids have never been produced. We therefore generated PC organoids using the dog urine samples...
October 10, 2017: Cancer Science
https://www.readbyqxmd.com/read/29023938/a-pharmacist-led-program-to-evaluate-and-reduce-polypharmacy-and-potentially-inappropriate-prescribing-in-older-hiv-positive-patients
#5
I R McNicholl, M Gandhi, C Bradley Hare, M Greene, E Pierluissi
OBJECTIVE: The goal of this pharmacist-led study was to utilize 2 validated instruments, Beers and Screening Tool of Older Persons' Potentially inappropriate Prescriptions (STOPP), to assess potentially inappropriate prescribing (PIP) in older patients infected with the human immunodeficiency virus (HIV) and evaluate pharmacist interventions. DESIGN: Prospective, randomized, interventional trial. SETTING: Large urban clinic providing interdisciplinary primary and HIV care for approximately 2700 HIV-positive, publically insured patients...
October 10, 2017: Pharmacotherapy
https://www.readbyqxmd.com/read/29023266/novel-zbtb24-mutation-associated-with-immunodeficiency-centromere-instability-and-facial-anomalies-type-2-syndrome-identified-in-a-patient-with-very-early-onset-inflammatory-bowel-disease
#6
Máire A Conrad, Noor Dawany, Kathleen E Sullivan, Marcella Devoto, Judith R Kelsen
BACKGROUND: Very early onset inflammatory bowel disease, diagnosed in children ≤5 years old, can be the initial presentation of some primary immunodeficiencies. METHODS: In this study, we describe a 17-month-old boy with recurrent infections, growth failure, facial anomalies, and inflammatory bowel disease. Immune evaluation, whole-exome sequencing, karyotyping, and methylation array were performed to evaluate the child's constellation of symptoms and examination findings...
October 11, 2017: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/29022881/primary-hiv-infection-in-patients-with-acute-hepatitis-b-a-report-of-two-cases
#7
Francesca Binda, Elisa Monge, Francesco R Simonetti, Nadia Zanchetta, Massimo Galli, Laura Milazzo, Mario Corbellino, Spinello Antinori
We describe 2 patients admitted to our Institution with a diagnosis of sexually acquired acute hepatitis B who also had underlying hyper acute Human Immunodeficiency Virus (HIV) infection. Both individuals reported high rates of condomless sex. Antiviral therapy active against Hepatitis B virus and HIV was started within days after diagnosis. Treatment was well tolerated and led to a rapid control of both infections and HBsAb seroconversion. The efficacy and safety of contemporary antiretroviral drug combinations suggest that treatment of acute HIV infection is feasible in patients with acute hepatitis B...
October 12, 2017: Antiviral Therapy
https://www.readbyqxmd.com/read/29021396/quiescence-promotes-latent-hiv-infection-and-resistance-to-reactivation-from-latency-with-histone-deacetylase-inhibitors
#8
Mark M Painter, Thomas D Zaikos, Kathleen L Collins
Human immunodeficiency virus type-1 (HIV-1) establishes transcriptionally silent latent infections in many cell types, including resting memory T cells and hematopoietic stem and progenitor cells (HSPCs), which allow the virus to persist in infected individuals despite antiretroviral therapy. Developing in vitro models of HIV-1 latency that recapitulate the characteristics of latently-infected cells in vivo is crucial to identifying and developing effective latency-reversing therapies. HSPCs exist in a quiescent state in vivo, and quiescence is correlated with latent infections in T cells...
October 11, 2017: Journal of Virology
https://www.readbyqxmd.com/read/29021228/immune-reconstitution-and-survival-of-100-scid-patients-post-hematopoietic-cell-transplant-a-pidtc-natural-history-study
#9
Jennifer Heimall, Brent R Logan, Morton J Cowan, Luigi D Notarangelo, Linda M Griffith, Jennifer M Puck, Donald B Kohn, Michael A Pulsipher, Suhag Parikh, Caridad Martinez, Neena Kapoor, Richard O'Reilly, Michael Boyer, Sung-Yun Pai, Frederick Goldman, Lauri Burroughs, Sharat Chandra, Morris Kletzel, Monica Thakar, James Connelly, Geoff Cuvelier, Blachy Davila, Evan Shereck, Alan Knutsen, Kathleen E Sullivan, Kenneth DeSantes, Alfred Gillio, Elie Haddad, Aleksandra Petrovic, Troy Quigg, Angela R Smith, Elizabeth Stenger, Ziyan Yin, William T Shearer, Thomas Fleisher, Rebecca H Buckley, Christopher C Dvorak
The Primary Immune Deficiency Treatment Consortium (PIDTC) is enrolling children with severe combined immunodeficiency (SCID) to a prospective natural history study. We analyzed patients treated with allogeneic hematopoietic cell transplantation (HCT) from 2010-2014, including 68 with typical SCID and 32 with leaky SCID, Omenn Syndrome or Reticular Dysgenesis. Most (59%) were diagnosed by newborn screening or family history. The 2-year overall survival (OS) was 90%but was 95% for those infection-free at HCT vs...
October 11, 2017: Blood
https://www.readbyqxmd.com/read/29020196/the-risk-and-predictors-of-visceral-leishmaniasis-relapse-in-human-immunodeficiency-virus-coinfected-patients-in-ethiopia-a-retrospective-cohort-study
#10
Charles Abongomera, Ermias Diro, Florian Vogt, Achilleas Tsoumanis, Zelalem Mekonnen, Henok Admassu, Robert Colebunders, Rezika Mohammed, Koert Ritmeijer, Johan van Griensven
Background: East Africa, where Leishmania donovani is prevalent, faces the highest burden world-wide of visceral leishmaniasis (VL) and human immunodeficiency virus (HIV) coinfection. However, data on the risk and predictors of VL relapse are scarce. Such information is vital to target medical follow-up and interventions to those at highest risk. Methods: We conducted a retrospective cohort study at a Médecins Sans Frontières-supported health center in northwest Ethiopia...
July 20, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/29020152/increases-in-ocular-syphilis-north-carolina-2014-2015
#11
Sara E Oliver, Anna Barry Cope, Jessica L Rinsky, Charnetta Williams, Gui Liu, Stephanie Hawks, Thomas A Peterman, Lauri Markowitz, Aaron T Fleischauer, Erika Samoff
Background: Ocular syphilis is an inflammatory eye disease due to Treponema pallidum infection. In the United States, syphilis rates have increased since 2000; clusters of ocular syphilis were reported in 2015. We investigated ocular syphilis in North Carolina to describe the epidemiology and clinical course of disease. Methods: We reviewed syphilis cases reported to North Carolina during 2014-2015 and abstracted information from health department interviews for cases with ocular symptoms and no other defined etiology...
July 13, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/29020150/a-multicenter-study-evaluating-ceftriaxone-and-benzathine-penicillin-g-as-treatment-agents-for-early-syphilis-in-jiangsu-china
#12
Yuping Cao, Xiaohong Su, Qianqiu Wang, Huazhong Xue, Xiaofeng Zhu, Chuanfu Zhang, Juan Jiang, Shuzhen Qi, Xiangdong Gong, Xiaofang Zhu, Min Pan, Hong Ren, Wenlong Hu, Zhiping Wei, Meihua Tian, Weida Liu
Background: The aim of this study was to assess the efficacy of ceftriaxone and benzathine penicillin G (BPG) in nonpregnant, immunocompetent adults with early syphilis because there is a lack of clinical evidence supporting ceftriaxone as an alternative treatment for early syphilis without an human immunodeficiency virus coinfection. Methods: A randomized, open-label controlled study evaluating the efficacy of ceftriaxone and BPG was conducted in 4 hospitals in Jiangsu Province...
July 17, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/29019451/autoimmunity-in-a-cohort-of-471-patients-with-primary-antibody-deficiencies
#13
Gholamreza Azizi, Marzieh Tavakol, Hosein Rafiemanesh, Fatemeh Kiaee, Reza Yazdani, Amin Heydari, Kosar Abouhamzeh, Pardis Anvari, Sara Mohammadikhajehdehi, Laleh Sharifia, Yasser Bagheri, Hamed Mohammadi, Hassan Abolhassani, Asghar Aghamohammadi
OBJECTIVES: The aim of this study was to evaluate the frequency of autoimmunity in primary antibody deficiency (PAD). METHODS: A total of 471 patients with PADs enrolled in this retrospective cohort study. For all patients' demographic information, clinical records and laboratory data were collected to investigate autoimmune complications. RESULTS: Autoimmune disorders as the first presentation of immunodeficiency were recorded in 11 patients (2...
November 2017: Expert Review of Clinical Immunology
https://www.readbyqxmd.com/read/29018476/recurrent-and-prolonged-infections-in-a-child-with-a-homozygous-ifih1-nonsense-mutation
#14
Maha Zaki, Michaela Thoenes, Amit Kawalia, Peter Nürnberg, Rolf Kaiser, Raoul Heller, Hanno J Bolz
In an Egyptian girl born to consanguineous parents, whole-exome sequencing (WES) identified a homozygous mutation in PHGDH, c.1273G>A (p.Val425Met), indicating 3-phosphoglycerate dehydrogenase deficiency. This diagnosis was compatible with the patient's microcephaly, severe psychomotor retardation, seizures and cataracts. However, she additionally suffered from recurrent (at least monthly) episodes of prolonged and severe chest infections requiring hospitalization, suggesting a secondary, predisposing and potentially Mendelian, condition...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/29016342/case-report-histoplasmosis-in-himachal-pradesh-india-an-emerging-endemic-focus
#15
Vikram K Mahajan, Rashmi Kaul Raina, Suman Singh, Rattan Sagar Rashpa, Anuradha Sood, Pushpinder S Chauhan, Karaninder S Mehta, Ritu Rawat, Vikas Sharma
We describe four cases of histoplasmosis indigenous to Himachal Pradesh (India) that will be of considerable public health interest. A 48-year-old human immunodeficiency virus (HIV)-negative man with cervical and mediastinal lymphadenopathy, hepatosplenomegaly, adrenal mass, and bone marrow involvement was treated as disseminated tuberculosis without benefit. Progressive disseminated histoplasmosis was diagnosed from the fungus in smears from adrenal mass. Another 37-year-old HIV-positive man was on treatment of suspected pulmonary tuberculosis...
September 25, 2017: American Journal of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/28993765/prolonged-excretion-of-poliovirus-among-individuals-with-primary-immunodeficiency-disorder-an-analysis-of-the-world-health-organization-registry
#16
Grace Macklin, Yi Liao, Marina Takane, Kathleen Dooling, Stuart Gilmour, Ondrej Mach, Olen M Kew, Roland W Sutter
Individuals with primary immunodeficiency disorder may excrete poliovirus for extended periods and will constitute the only remaining reservoir of virus after eradication and withdrawal of oral poliovirus vaccine. Here, we analyzed the epidemiology of prolonged and chronic immunodeficiency-related vaccine-derived poliovirus cases in a registry maintained by the World Health Organization, to identify risk factors and determine the length of excretion. Between 1962 and 2016, there were 101 cases, with 94/101 (93%) prolonged excretors and 7/101 (7%) chronic excretors...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28992464/pathogenesis-of-infections-in-hiv-infected-individuals-insights-from-primary-immunodeficiencies
#17
REVIEW
Qian Zhang, Pierre Frange, Stéphane Blanche, Jean-Laurent Casanova
Following infection with almost any given microorganism other than an emerging pathogen, only a minority of individuals develop life-threatening clinical disease, implying that these individuals have some form of immunodeficiency. A growing number of inherited and acquired immunodeficiencies have been deciphered over the last 50 years. HIV infection is probably the best-known acquired immunodeficiency. It emerged about 40 years ago and precipitates various severe infections, the occurrence of which is associated with a fall in circulating CD4(+) T cells...
October 6, 2017: Current Opinion in Immunology
https://www.readbyqxmd.com/read/28991895/multi-site-cholera-surveillance-within-the-african-cholera-surveillance-network-shows-endemicity-in-mozambique-2011-2015
#18
Cynthia Semá Baltazar, José Paulo Langa, Liliana Dengo Baloi, Richard Wood, Issaka Ouedraogo, Berthe-Marie Njanpop-Lafourcade, Dorteia Inguane, Jucunu Elias Chitio, Themba Mhlanga, Lorna Gujral, Bradford D Gessner, Aline Munier, Martin A Mengel
BACKGROUND: Mozambique suffers recurrent annual cholera outbreaks especially during the rainy season between October to March. The African Cholera Surveillance Network (Africhol) was implemented in Mozambique in 2011 to generate accurate detailed surveillance data to support appropriate interventions for cholera control and prevention in the country. METHODOLOGY/PRINCIPAL FINDINGS: Africhol was implemented in enhanced surveillance zones located in the provinces of Sofala (Beira), Zambézia (District Mocuba), and Cabo Delgado (Pemba City)...
October 9, 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28989874/metabolic-status-and-hypogonadism-in-human-immunodeficiency-virus-infected-males
#19
Sarita Bajaj, Yashaswi Pathak, Sharad Varma, Sujit Verma
AIMS AND OBJECTIVES: The aim of this study is to determine the prevalence of hypogonadism in human immunodeficiency virus (HIV)-infected males and to study its relation to age, CD4 count, body mass index (BMI), duration of highly active antiretroviral therapy (HAART), and metabolic status. METHODOLOGY: Eighty-one HIV positive cases and 82 healthy controls were included in this case-control study. Each case underwent a complete physical examination and serum fasting plasma glucose, A1c, lipid profile, total testosterone (TT), follicle-stimulating hormone (FSH), and luteinizing hormone (LH) levels were estimated...
September 2017: Indian Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28985529/multiplex-crispr-cas9-based-genome-editing-in-human-hematopoietic-stem-cells-models-clonal-hematopoiesis-and-myeloid-neoplasia
#20
Zuzana Tothova, John M Krill-Burger, Katerina D Popova, Catherine C Landers, Quinlan L Sievers, David Yudovich, Roger Belizaire, Jon C Aster, Elizabeth A Morgan, Aviad Tsherniak, Benjamin L Ebert
Hematologic malignancies are driven by combinations of genetic lesions that have been difficult to model in human cells. We used CRISPR/Cas9 genome engineering of primary adult and umbilical cord blood CD34(+) human hematopoietic stem and progenitor cells (HSPCs), the cells of origin for myeloid pre-malignant and malignant diseases, followed by transplantation into immunodeficient mice to generate genetic models of clonal hematopoiesis and neoplasia. Human hematopoietic cells bearing mutations in combinations of genes, including cohesin complex genes, observed in myeloid malignancies generated immunophenotypically defined neoplastic clones capable of long-term, multi-lineage reconstitution and serial transplantation...
October 5, 2017: Cell Stem Cell
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