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Primary immunodeficience

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https://www.readbyqxmd.com/read/28937523/cytomegalovirus-retinitis-associated-with-occlusive-vasculopathy-in-an-elderly-human-immunodeficiency-virus-negative-man
#1
Kareem Moussa, Thuy Doan, Jay M Stewart, Jessica Shantha, John Gonzales, Nisha Acharya, Emmett T Cunningham
PURPOSE: To present a case of cytomegalovirus (CMV) retinitis associated with occlusive vasculopathy presenting as sudden unilateral loss of vision in a human immunodeficiency virus-negative elderly man. METHODS: Clinical case report and literature review. RESULTS: An 84-year-old Chinese man with diabetes mellitus and primary open-angle glaucoma was seen in consultation by our uveitis service for evaluation of sudden vision loss in the right eye...
September 20, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28937520/evans-syndrome-as-first-manifestation-of-primary-immunodeficiency-in-clinical-practice
#2
Libny Martínez-Valdez, Angela Deyà-Martínez, María T Giner, Rubén Berrueco, Ana Esteve-Solé, Manel Juan, Ana M Plaza-Martín, Laia Alsina
BACKGROUND: Evans syndrome (ES) is a rare immune disorder in children, manifested by simultaneous or sequential autoimmune cytopenias (ACs) of unknown cause and having a chronic course with periods of exacerbation and remission. Some primary immunodeficiencies (PIDs) may present with autoimmune manifestations without infections, masking suspicion of them. The PIDs that can typically manifest as ES are autoimmune lymphoproliferative syndrome and common variable immunodeficiency (CVID)...
October 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28936210/novel-mutations-of-the-tetratricopeptide-repeat-domain-7a-gene-and-phenotype-genotype-comparison
#3
Reyin Lien, Yung-Feng Lin, Min-Wei Lai, Hui-Ying Weng, Ren-Chin Wu, Tang-Her Jaing, Jing-Long Huang, Shih-Feng Tsai, Wen-I Lee
The gastrointestinal tract contains the largest lymphoid organ to react with pathogenic microorganisms and suppress excess inflammation. Patients with primary immunodeficiency diseases (PIDs) can suffer from refractory diarrhea. In this study, we present two siblings who began to suffer from refractory diarrhea with a poor response to aggressive antibiotic and immunosuppressive treatment after surgical release of neonatal intestinal obstruction. Their lymphocyte proliferation was low, but superoxide production and IL-10 signaling were normal...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28931394/the-efficacy-of-initial-ventilation-strategy-for-adult-immunocompromised-patients-with-severe-acute-hypoxemic-respiratory-failure-study-protocol-for-a-multicentre-randomized-controlled-trial-venim
#4
Tao Wang, Gang Liu, Kun He, Xin Lu, Xianquan Liang, Meng Wang, Rong Zhu, Zongru Li, Feng Chen, Jun Ke, Qingming Lin, Chuanyun Qian, Bo Li, Jie Wei, Jingjun Lv, Li Li, Yanxia Gao, Guofeng Wu, Xiaohong Yu, Weiqin Wei, Ying Deng, Fengping Wang, Hong Zhang, Yun Zheng, Hong Zhan, Jinli Liao, Yingping Tian, Dongqi Yao, Jingsong Zhang, Xufeng Chen, Lishan Yang, Jiali Wu, Yanfen Chai, Songtao Shou, Muming Yu, Xudong Xiang, Dongshan Zhang, Fengying Chen, Xiufeng Xie, Yong Li, Bo Wang, Wenzhong Zhang, Yongli Miao, Michael Eddleston, Jianqiang He, Yong Ma, Shengyong Xu, Yi Li, Huadong Zhu, Xuezhong Yu
BACKGROUND: Acute respiratory failure (ARF) is still one of the most severe complications in immunocompromised patients. Our previous systematic review showed noninvasive mechanical ventilation (NIV) reduced mortality, length of hospitalization and ICU stay in AIDS/hematological malignancy patients with relatively less severe ARF, compared to invasive mechanical ventilation (IMV). However, this systematic review was based on 13 observational studies and the quality of evidence was low to moderate...
September 20, 2017: BMC Pulmonary Medicine
https://www.readbyqxmd.com/read/28930011/poliovirus-excretion-in-children-with-primary-immunodeficiency-disorders-india
#5
Madhu Chhanda Mohanty, Manisha Rajan Madkaikar, Mukesh Desai, Prasad Taur, Uma Prajwal Nalavade, Deepa Kailash Sharma, Maya Gupta, Aparna Dalvi, Snehal Shabrish, Manasi Kulkarni, Jahnavi Aluri, Jagadish Mohanrao Deshpande
Prolonged excretion of poliovirus can occur in immunodeficient patients who receive oral polio vaccine, which may lead to propagation of highly divergent vaccine-derived polioviruses (VDPVs), posing a concern for global polio eradication. This study aimed to estimate the proportion of primary immunodeficient children with enterovirus infection and to identify the long-term polio/nonpolio enterovirus excreters in a tertiary care unit in Mumbai, India. During September 2014-April 2017, 151 patients received diagnoses of primary immunodeficiency (PID)...
October 2017: Emerging Infectious Diseases
https://www.readbyqxmd.com/read/28928736/selective-igm-deficiency-an-underestimated-primary-immunodeficiency
#6
REVIEW
Sudhir Gupta, Ankmalika Gupta
Although selective IgM deficiency (SIGMD) was described almost five decades ago, it was largely ignored as a primary immunodeficiency. SIGMD is defined as serum IgM levels below two SD of mean with normal serum IgG and IgA. It appears to be more common than originally realized. SIGMD is observed in both children and adults. Patients with SIGMD may be asymptomatic; however, approximately 80% of patients with SIGMD present with infections with bacteria, viruses, fungi, and protozoa. There is an increased frequency of allergic and autoimmune diseases in SIGMD...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28927770/-pyomyositis-in-children-two-cases-of-staphylococcus-aureus-infection
#7
F Gravot, J Hébert, A Robert-Dehault, R Bouttier, F Le Gall, G Blondin, P Vic
Pyomyositis is a term used to denote primary pyogenic infection of a skeletal muscle. It is a rare disease that was first described in immunodeficient patients living in tropical climates. Lately, however, cases involving healthy children have been described in temperate climates. The origin of primary pyomyositis remains unclear, although it is thought to be caused by seeding from transient bacteremia. Onset of disease is insidious, therefore necessitating rapid diagnosis to successfully select appropriate antibiotic therapy and avoid complications...
September 15, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28927202/role-of-molecular-biomarkers-in-the-diagnosis-of-invasive-fungal-diseases-in-children
#8
Anna R Huppler, Brian T Fisher, Thomas Lehrnbecher, Thomas J Walsh, William J Steinbach
Invasive fungal diseases are important clinical problems that are often complicated by severe illness and therefore the inability to use invasive measures to definitively diagnose the disease. Tests for a range of fungal biomarkers that do not require an invasive sample-collection procedure have been incorporated into adult clinical practice, but pediatric data and pediatric-specific recommendations for some of these diagnostic tools are lacking. In this review, we summarize the published literature and contemporary strategies for using the biomarkers galactomannan, (1→3)-β-d-glucan, Candida mannan antigen and anti-mannan antibody, and fungal polymerase chain reaction for diagnosing invasive fungal disease in children...
September 1, 2017: Journal of the Pediatric Infectious Diseases Society
https://www.readbyqxmd.com/read/28927200/epidemiology-of-invasive-fungal-disease-in-children
#9
Zoi Dorothea Pana, Emmanuel Roilides, Adilia Warris, Andreas H Groll, Theoklis Zaoutis
Considerable progress has been made in the prevention, diagnosis, and management of pediatric patients with invasive fungal disease (IFD). The reported decreasing trend in the incidence of invasive candidiasis (IC) over the past 15 years in both neonates and children has been encouraging. Nevertheless, due to the growing number of immunocompromised children at risk for IFD, this disease continues to be associated with significant morbidity and death and with increased financial burden to the health care system...
September 1, 2017: Journal of the Pediatric Infectious Diseases Society
https://www.readbyqxmd.com/read/28927110/characteristics-of-primary-side-population-cervical-cancer-cells
#10
Zhen-Tong Wei, Xiao-Wei Yu, Jia-Xue He, Yan Liu, Song-Ling Zhang
The aim of the present study was to identify and characterize side population (SP) cells in primary cervical cancer. A primary culture was successfully established, and the SP cells were isolated via fluorescence-activated cell sorting. Subsequently, in vitro analysis of clonogenic capacity by soft agar assay and in vivo analysis of tumorigenicity were performed. The isolated SP cells accounted for ~4.73% of the total primary culture cells. The SP cells had a decreased proliferation rate and an increased distribution in G0/G1 compared with non-SP (NSP) cells...
September 2017: Oncology Letters
https://www.readbyqxmd.com/read/28927044/isolation-and-characterization-of-adult-mammary-stem-cells-from-breast-cancer-adjacent-tissues
#11
Ai-Ping Shi, Zhi-Min Fan, Ke-Wei Ma, Yan-Fang Jiang, Lei Wang, Ke-Wei Zhang, Shi-Bo Fu, Ning Xu, Zhi-Ru Zhang
Normal adult mammary stem cells (AMSCs) are promising sources for breast reconstruction, particularly following the resection of breast tumors. However, carcinogenic events can potentially convert normal AMSCs to cancer stem cells, posing a safety concern for the use of AMSCs for clinical tissue regeneration. In the present study, AMSCs and autologous primary breast cancer cells were isolated and compared for their ability to differentiate, their gene expression profile, and their potential to form tumors in vivo...
September 2017: Oncology Letters
https://www.readbyqxmd.com/read/28924485/hypogonadotropic-hypogonadism-in-human-immunodeficiency-virus-infected-men-uncommonly-low-testosterone-levels
#12
Ana Coelho Gomes, José Maria Aragüés, Sílvia Guerra, Joana Fernandes, Mário Rui Mascarenhas
Hypogonadotropic hypogonadism (HH) is common and occurs prematurely in HIV-infected men. However, HH with very low testosterone has not been described. Three men with normal pubertal development and HIV1 diagnosis at the ages of 22, 34 and 35 years. All complained of decreased libido, anejaculation and erectile dysfunction thirteen years, six months and one year after HIV diagnosis, respectively. Two had depressive syndrome and two were treated with antiretroviral therapy. Laboratory tests revealed isolated HH in all...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28923788/video-game-intervention-for-sexual-risk-reduction-in-minority-adolescents-randomized-controlled-trial
#13
Lynn E Fiellin, Kimberly D Hieftje, Tyra M Pendergrass, Tassos C Kyriakides, Lindsay R Duncan, James D Dziura, Benjamin G Sawyer, Linda Mayes, Cindy A Crusto, Brian Wc Forsyth, David A Fiellin
BACKGROUND: Human immunodeficiency virus (HIV) disproportionately impacts minority youth. Interventions to decrease HIV sexual risk are needed. OBJECTIVE: We hypothesized that an engaging theory-based digital health intervention in the form of an interactive video game would improve sexual health outcomes in adolescents. METHODS: Participants aged 11 to 14 years from 12 community afterschool, school, and summer programs were randomized 1:1 to play up to 16 hours of an experimental video game or control video games over 6 weeks...
September 18, 2017: Journal of Medical Internet Research
https://www.readbyqxmd.com/read/28922955/comparison-of-zfns-versus-crispr-specific-nucleases-for-genome-edition-of-the-wiskott-aldrich-syndrome-locus
#14
Alejandra Gutierrez-Guerrero, Sabina Sanchez-Hernandez, Giuseppe Galvani, Javier Pinedo-Gomez, Almudena Sanchez-Gilabert, Rocio Martin-Guerra, Marien Cobo, Philip Gregory, Michael Holmes, Karim Benabdellah, Francisco Martin
Primary immunodeficiencies (PID), including Wiskott-Aldrich syndrome (WAS), are a main target for genome editing (GE) strategies using specific nucleases (SNs) since a small number of corrected hematopoietic stem cells (HSCs) could cure patients. In this work, we have designed different WAS gene-specific CRISPR/Cas9 systems and compared their efficiency and specificity with homodimeric and heterodimeric WAS-specific Zinc Finger Nucleases (ZFNs) using K562 cells as a cellular model and plasmid nucleofection or integrative-deficient Lentiviral Vectors (IDLVs) for delivery...
September 19, 2017: Human Gene Therapy
https://www.readbyqxmd.com/read/28921783/barriers-to-listing-for-hiv-infected-patients-being-evaluated-for-kidney-transplantation
#15
Dong Heun Lee, Suzanne M Boyle, Gregory E Malat, Christopher Kern, Charles Milrod, Shannon DeBellis, Meera N Harhay, Karthik Ranganna, Stephen Guy, Sindhura Talluri, Tiffany Bias, Alden Doyle
BACKGROUND: Human immunodeficiency virus (HIV)-infected patients have excellent outcomes following kidney transplantation (KT) but still might face barriers in the evaluation and listing process. The aim of this study was to characterize the patient population, referral patterns, and outcomes of HIV-infected patients who present for KT evaluation. METHODS: We performed a single-center retrospective cohort study of HIV-infected patients who were evaluated for KT...
September 16, 2017: Transplant Infectious Disease: An Official Journal of the Transplantation Society
https://www.readbyqxmd.com/read/28921748/increased-risk-organ-transplantation-in-the-pediatric-population
#16
Sean M Wrenn, Peter W Callas, Trishul Kapoor, Alia F Aunchman, Adam N Paine, Jaime A Pineda, Carlos E Marroquin
IRD organs are classified by the Public Health Service to be at above-average risk for harboring human immunodeficiency virus, hepatitis C, and hepatitis B. Traditionally underutilized, there exists even greater reluctance for their use in pediatric patients. We performed a retrospective analysis via the United Network for Organ Sharing database of all pediatric renal and hepatic transplants performed from 2004 to 2008 in the United States. Primary outcomes were patient and graft survival. Proportional hazards regression was performed to control for potentially confounding factors...
September 17, 2017: Pediatric Transplantation
https://www.readbyqxmd.com/read/28920935/spinal-cord-injury-induced-immunodeficiency-is-mediated-by-a-sympathetic-neuroendocrine-adrenal-reflex
#17
Harald Prüss, Andrea Tedeschi, Aude Thiriot, Lydia Lynch, Scott M Loughhead, Susanne Stutte, Irina B Mazo, Marcel A Kopp, Benedikt Brommer, Christian Blex, Laura-Christin Geurtz, Thomas Liebscher, Andreas Niedeggen, Ulrich Dirnagl, Frank Bradke, Magdalena S Volz, Michael J DeVivo, Yuying Chen, Ulrich H von Andrian, Jan M Schwab
Acute spinal cord injury (SCI) causes systemic immunosuppression and life-threatening infections, thought to result from noradrenergic overactivation and excess glucocorticoid release via hypothalamus-pituitary-adrenal axis stimulation. Instead of consecutive hypothalamus-pituitary-adrenal axis activation, we report that acute SCI in mice induced suppression of serum norepinephrine and concomitant increase in cortisol, despite suppressed adrenocorticotropic hormone, indicating primary (adrenal) hypercortisolism...
September 18, 2017: Nature Neuroscience
https://www.readbyqxmd.com/read/28919433/the-p2x7-receptor-in-dorsal-root-ganglia-is-involved-in-hiv-gp120-associated-neuropathic-pain
#18
Bing Wu, Lichao Peng, Jinyan Xie, Lifang Zou, Qicheng Zhu, Huaide Jiang, Zhihua Yi, Shouyu Wang, Yun Xue, Yun Gao, Guilin Li, Shuangmei Liu, Chunping Zhang, Guodong Li, Shangdong Liang, Huangui Xiong
Human immunodeficiency virus (HIV)-associated neuropathic pain is common, and studies have shown that HIV envelope glycoprotein 120 (gp120) can directly stimulate primary sensory afferent neurons causing hyperalgesia. The P2X7 receptor in the dorsal root ganglia (DRG) is involved in pain transmission and is closely related to the inflammatory and immune response. In this study, we aimed to explore the role of the P2X7 receptor in gp120-induced neuropathic pain using a rat model specific for this type of pain...
September 14, 2017: Brain Research Bulletin
https://www.readbyqxmd.com/read/28914637/signal-transducer-and-activator-of-transcription-gain-of-function-primary-immunodeficiency-immunodysregulation-disorders
#19
Filippo Consonni, Laura Dotta, Francesca Todaro, Donatella Vairo, Raffaele Badolato
PURPOSE OF REVIEW: To describe primary immunodeficiencies caused by gain-of-function (GOF) mutations of signal transducer and activator of transcription (STAT) genes, a group of genetically determined disorders characterized by susceptibility to infections and, in many cases, autoimmune manifestations. RECENT FINDINGS: GOF mutations affecting STAT1 result in increased STAT tyrosine phosphorylation and secondarily increased response to STAT1-signaling cytokines, such as interferons...
September 13, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28914079/co-infection-of-human-herpesvirus-type-2-hhv-2-and-human-immunodeficiency-virus-hiv-among-pregnant-women-in-rio-de-janeiro-brazil
#20
Lyana Rodrigues Pinto Lima, Luis Eduardo Barros Costa Fernandes, Daniel A M Villela, Mariza Gonçalves Morgado, José Henrique Pilotto, Vanessa Salete de Paula
Pregnant women who are infected with the Human Immunodeficiency Virus (HIV) are particularly vulnerable to severe and recurrent infections with Human Herpesvirus 2 (HHV-2). Neonatal transmission of HHV-2 has been associated with malformations and neurological sequelae in infants, which makes it very important to perform antenatal monitoring for genital herpes. In the study, 134 pregnant women infected with HIV were tested for HHV-2 IgM and IgG using an enzyme-linked immunosorbent assay (ELISA) and had HHV-2 DNA analyzed by Real Time Polymerase Chain Reaction (qPCR)...
September 15, 2017: AIDS Care
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