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JOURNAL ARTICLE
Şule Haskoloğlu, Gökcan Öztürk, Nazlı Deveci Demirbaş, Can Akal, Candan İslamoğlu, Kübra Baskın, Aylin Heper, Ömer Erdeve, Serdar Ceylaner, Figen Doğu, Aydan İkincioğulları
Junctional epidermolysis bullosa (JEB) is a rare, incurable, devastating, and mostly fatal congenital genetic disorder characterized by painful blistering of the skin and mucous membranes in response to minor trauma or pressure. JEB is classified roughly into 2 subtypes: JEB-Herlitz is caused by mutations on genes encoding laminin-332. The authors present a patient consulted with a suspicion of primary immunodeficiency due to skin sores that started at the age of 1 month and a history of 3 siblings who died with similar sores, who was diagnosed with JEB-Herlitz after detecting a homozygous LAMC2 gene mutation in WES analysis...
April 23, 2024: American Journal of Dermatopathology
#2
Kittu Malhi, Akash Mustari, Sukhdeep Singh, Anoop Kumar, Pandiarajan Vignesh, Dipankar De, Sanjeev Handa, Rahul Mahajan
No abstract text is available yet for this article.
April 22, 2024: Australasian Journal of Dermatology
#3
Fabio Vescini, Giorgio Borretta, Iacopo Chiodini, Marco Boniardi, Marina Carotti, Elena Castellano, Cristiana Cipriani, Cristina Eller-Vainicher, Sandro Giannini, Maurizio Iacobone, Antonio Stefano Salcuni, Federica Saponaro, Stefano Spiezia, Annibale Versari, Guido Zavatta, Zuzana Mitrova, Rosella Saulle, Simona Vecchi, Debora Antonini, Michele Basile, Alexia Giovanazzi, Agostino Paoletta, Enrico Papini, Agnese Persichetti, Irene Samperi, Alessandro Scoppola, Roberto Novizio, Pietro Giorgio Calò, Filomena Cetani, Luisella Cianferotti, Sabrina Corbetta, Maria Luisa De Rimini, Alberto Falchetti, Giovanni Iannetti, Stefano Laureti, Celestino Pio Lombardi, Bruno Madeo, Claudio Marcocci, Sandro Mazzaferro, Vittorio Miele, Salvatore Minisola, Andrea Palermo, Jessica Pepe, Alfredo Scillitani, Laura Tonzar, Franco Grimaldi, Renato Cozzi, Roberto Attanasio
AIM: This guideline (GL) is aimed at providing a clinical practice reference for the management of sporadic primary hyperparathyroidism (PHPT) in adults. PHPT management in pregnancy was not considered. METHODS: This GL has been developed following the methods described in the Manual of the Italian National Guideline System. For each question, the panel appointed by Associazione Medici Endocrinology (AME) and Società Italiana dell'Osteoporosi, del Metabolismo Minerale e delle Malattie dello Scheletro (SIOMMMS) identified potentially relevant outcomes, which were then rated for their impact on therapeutic choices...
December 23, 2023: Endocrine, Metabolic & Immune Disorders Drug Targets
#4
JOURNAL ARTICLE
M John, L Williams, G Nolan, M Bonnett, A Castley, D Nolan
OBJECTIVES: The inJectable Antiretroviral feasiBility Study (JABS) aimed to evaluate the implementation of long-acting regimens in a 'real world' Australian setting, with inclusion of participants with complex medical needs, social vulnerability and/or historical non-adherence. METHODS: JABS was a 12-month, single-centre, single-arm, open-label phase IV study of long-acting cabotegravir 600 mg plus rilpivirine 900 mg administered intramuscularly every 2 months to adults with treated HIV-1 infection...
April 21, 2024: HIV Medicine
#5
JOURNAL ARTICLE
Raffaele Badolato, Laia Alsina, Antoine Azar, Yves Bertrand, Audrey A Bolyard, David C Dale, Àngela Deyà-Martinez, Kathryn E Dickerson, Navid Ezra, Henrik Hasle, Hyoung Jin Kang, Sorena Kiani-Alikhan, Taco W Kuijpers, Alexander Kulagin, Daman Langguth, Carina Levin, Olaf Neth, Peter Olbrich, Jane Peake, Yulia Rodina, Caroline E Rutten, Anna Shcherbina, Teresa K Tarrant, Matthias G Vossen, Christian A Wysocki, Andrea Belschner, Gary J Bridger, Kelly Chen, Susan Dubuc, Yanping Hu, Honghua Jiang, Sunny Li, Rick MacLeod, Murray Stewart, Arthur G Taveras, Tina Yan, Jean Donadieu
We investigated efficacy and safety of mavorixafor, an oral CXCR4 antagonist for participants with Warts, Hypogammaglobulinemia, Infections, and Myelokathexis (WHIM) syndrome, a rare immunodeficiency caused by CXCR4 gain-of-function variants. This randomized (1:1), double-blind, placebo-controlled, phase 3 trial enrolled participants aged ≥12 years with WHIM syndrome and absolute neutrophil count (ANC) ≤400/μL. Participants received once-daily mavorixafor or placebo for 52 weeks. Primary endpoint was time (hours) above ANC threshold ≥500/μL (TATANC; over 24 hours)...
April 21, 2024: Blood
#6
JOURNAL ARTICLE
Satoko Ichioka, Hiroki Satooka, Yoshihiro Maruo, Takako Hirata
Moesin is a member of the ezrin-radixin-moesin (ERM) family of proteins that link plasma membrane proteins to the cortical cytoskeleton and thus regulate diverse cellular processes. Mutations in the human moesin gene cause a primary immunodeficiency called X-linked moesin-associated immunodeficiency (X-MAID), which may be complicated by an autoimmune phenotype with kidney involvement. We previously reported that moesin-deficient mice exhibit lymphopenia similar to that of X-MAID and develop a lupus-like autoimmune phenotype with age...
April 16, 2024: Biochemical and Biophysical Research Communications
#7
JOURNAL ARTICLE
Alexander Wong, Jason Brunetta, Joss De Wet, Ken Logue, Hugues Loemba, Taban Saifi, Dylana Mumm, Andrea Marongiu, Rebecca Harrison, David Thorpe, Benoit Trottier
The BICSTaR (BICtegravir Single Tablet Regimen) study is investigating the effectiveness and safety of bictegravir/emtricitabine/tenofovir alafenamide (B/F/TAF) in people with human immunodeficiency virus (HIV) treated in routine clinical practice. BICSTaR is an ongoing, prospective, observational cohort study across 14 countries. Treatment-naïve (TN) and treatment-experienced (TE) people with HIV (≥18 years of age) are being followed for 24 months. We present an analysis of the primary endpoint (HIV-1 RNA < 50 copies/mL; missing-equals-excluded [M = E]) at month 12 in the BICSTaR Canada cohort, including secondary (CD4 count, CD4/CD8 ratio, safety/tolerability) and exploratory (persistence, treatment satisfaction) endpoints...
April 19, 2024: Medicine (Baltimore)
#8
Bamidele O Johnson, Amisha Nimawat, Nyier W Doar, Thi Nguyen, Malar Thwin
Immune thrombocytopenic purpura (ITP) is a hematologic condition characterized by decreased circulating platelets, resulting in bruising, bleeding gums, and internal bleeding. This disorder can be categorized into two primary forms based on the duration of symptoms and underlying causes. Acute ITP primarily affects young children, typically between the ages of two and six, but it can also impact older children and adults. Viral infections like chickenpox, respiratory infections, or gastroenteritis often precede it...
March 2024: Curēus
#9
JOURNAL ARTICLE
Silvia Ricci, Valentina Guarnieri, Francesca Capitanini, Caterina Pelosi, Valeria Astorino, Silvia Boscia, Elisa Calistri, Clementina Canessa, Martina Cortimiglia, Francesca Lippi, Lorenzo Lodi, Sabrina Malvagia, Maria Moriondo, Giancarlo La Marca, Chiara Azzari
BACKGROUND: Inborn errors of immunity (IEIs) include 485 inherited disorders characterized by an increased susceptibility to life threatening infectious diseases, autoimmunity and malignant diseases with a high mortality rate in the first years of life. Severe Combined Immunodeficiency is the most severe of the IEIs and its detection should be a primary goal in a newborn screening (NBS) program. The term "actionable" has recently been used for all IEIs with outcomes that can be demonstrably improved through early specialized intervention...
April 16, 2024: Journal of Allergy and Clinical Immunology in Practice
#10
JOURNAL ARTICLE
Julius Lars Daniel Bastian, Philip Zeuschner, Michael Stöckle, Kerstin Junker, Johannes Linxweiler
In this study, we aimed to establish a technique for intraprostatic implantation of prostate cancer (PCa) spheroids and to identify the impact of three-dimensional organization of PCa cells on tumor progression and metastasis in a representative in vivo model. 40,000 LNCaP cells were implanted into the prostate of immunodeficient SCID mice either as single cells (n = 8) or as preformed 3D spheroids (n = 8). For a follow up of 20 weeks, tumor growth was monitored by serum PSA and high-resolution 3D ultrasonography...
April 17, 2024: Scientific Reports
#11
JOURNAL ARTICLE
William G Lee, Grace E Asuelime, Matthew B T Asuelime-Smith, Stephanie Y Chen, Eugene S Kim
INTRODUCTION: Neuroblastoma (NB) is the most common extra-cranial malignancy in children. Poor survival in high-risk NB is attributed to recurrent metastatic disease. To better study metastatic disease, we used a novel mouse model to investigate differential gene expression between primary tumor cells and metastatic cells. We hypothesized that metastatic NB cells have a different gene expression profile from primary tumor cells and cultured cells. METHODS: Using three human NB cell lines (NGP, CHLA255, and SH-SY5Y), orthotopic xenografts were established in immunodeficient nod/scid gamma mice via subcapsular renal injection...
April 16, 2024: Journal of Surgical Research
#12
JOURNAL ARTICLE
Raed Alzyoud, Motasem Alsuweiti, Heba Maaitah, Boshra Aladaileh, Mohammed Noubani, Hamazh Nsour
PURPOSE: Inborn errors of immunity (IEI) are a heterogeneous group of diseases with variable clinical phenotypes. This study was conducted to describe the epidemiology, clinical presentations, treatment, and outcome of IEI in Jordanian children. METHODS: A retrospective data analysis was conducted for children under 15 years diagnosed with IEI from the pediatric Allergy, Immunology, and Rheumatology Division-based registry at Queen Rania Children's Hospital, Amman, Jordan, between 2010 and 2022...
April 17, 2024: Journal of Clinical Immunology
#13
JOURNAL ARTICLE
Study on mNGS Technique in Diagnosing Pneumocystis jirovecii Pneumonia in Non-HIV-Infected Patients.
Shuai Li, Xue Han, Jing Ma, Guo-Hong Huang, Shu-Ting Yang, Chang-Min Wang
OBJECTIVE: To investigate the value of metagenomic Next-Generation Sequencing (mNGS) in diagnosing Pneumocystis jirovecii pneumonia (PJP) in non-human immunodeficiency virus (HIV)-infected patients. METHODS: In this retrospective study, non-HIV-infected patients with PJP and those diagnosed with non-PJP from August 2022 to December 2024 were selected as subjects. The presence of Pneumocystis jirovecii (PJ) and other co-pathogens in bronchoalveolar lavage fluid (BALF) was analyzed, and the diagnostic efficacy of NGS, polymerase chain reaction (PCR) and serum 1,3-β-D-glucan (BDG) in PJP was compared with the reference standard of clinical compound diagnosis...
2024: Infection and Drug Resistance
#14
JOURNAL ARTICLE
Silvano S Twinomujuni, Esther C Atukunda, Jackson K Mukonzo, Musinguzi Nicholas, Felicitas Roelofsen, Patrick E Ogwang
BACKGROUND: Initiation of ART among people living with HIV (PLWH) having a CD4 count ≤ 350cells/µl, produces poor immunological recovery, putting them at a high risk of opportunistic infections. To mitigate this, PLWH on ART in Uganda frequently use herbal remedies like Artemisia annua and Moringa oleifera, but their clinical benefits and potential antiretroviral (ARV) interactions remain unknown. This study examined the impact of A. annua and M. oleifera on CD4 count, viral load, and potential ARV interactions among PLWH on ART at an HIV clinic in Uganda...
April 16, 2024: AIDS Research and Therapy
#15
JOURNAL ARTICLE
Jin-Feng Cai, Jia-Sheng Zhou, Zhuo-Yue Meng, Zi-Qi Wu, Jia-Cong Zhao, Hai-Xiang Peng, Xin-Yu Liang, Jun-Jian Chen, Pei-Pei Wang, Kai Deng
Despite the effectiveness of antiretroviral therapy (ART) in prolonging the lifespan of individuals infected with HIV-1, it does not offer a cure for acquired immunodeficiency syndrome (AIDS). The "block and lock" approach aims to maintain the provirus in a state of extended transcriptional arrest. By employing the "block and lock" strategy, researchers endeavor to impede disease progression by preventing viral rebound for an extended duration following patient stops receiving ART. The crux of this strategy lies in the utilization of latency-promoting agents (LPAs) that are suitable for impeding HIV-1 provirus transcription...
April 16, 2024: Acta Pharmacologica Sinica
#16
JOURNAL ARTICLE
Gerard W Dougherty, Lawrence E Ostrowski, Tabea Nöthe-Menchen, Johanna Raidt, Andre Schramm, Heike Olbrich, Weining Yin, Patrick R Sears, Hong Dang, Amanda J Smith, Achim G Beule, Rim Hjeij, Niels Rutjies, Eric G Haarman, Saskia M Maas, Thomas W Ferkol, Peadar G Noone, Kenneth N Olivier, Diana C Bracht, Pascal Barbry, Laure-Emmanuelle Zaragosi, Morgane Fierville, Sabine Kliesch, Kai Wohlgemuth, Julia König, Sebastian George, Niki T Loges, Agathe Ceppe, Matthew R Markovetz, Hong Luo, Ting Guo, Hoda Rizk, Tarek Eldesoky, Katrin Dahlke, Karsten Boldt, Marius Ueffing, David B Hill, Yuan-Ping Pang, Michael R Knowles, Maimoona A Zariwala, Heymut Omran
RATIONALE: Bronchiectasis is a pathological dilatation of the bronchi in the respiratory airways associated with environmental or genetic causes (e.g., cystic fibrosis, primary ciliary dyskinesia and primary immunodeficiency disorders), but most cases remain idiopathic. OBJECTIVES: To identify novel genetic defects in unsolved cases of bronchiectasis presenting with severe rhinosinusitis, nasal polyposis, and pulmonary Pseudomonas aeruginosa infection. METHODS: DNA was analyzed by next-generation or targeted Sanger sequencing...
April 16, 2024: American Journal of Respiratory and Critical Care Medicine
#17
REVIEW
Maud Tusseau, Samira Khaldi-Plassart, Jade Cognard, Sebastien Viel, Liliane Khoryati, Sarah Benezech, Anne-Laure Mathieu, Fréderic Rieux-Laucat, Brigitte Bader-Meunier, Alexandre Belot
Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that is characterized by its large heterogeneity in terms of clinical presentation and severity. The pathophysiology of SLE involves an aberrant autoimmune response against various tissues, an excess of apoptotic bodies, and an overproduction of type-I interferon. The genetic contribution to the disease is supported by studies of monozygotic twins, familial clustering, and genome-wide association studies (GWAS) that have identified numerous risk loci...
April 15, 2024: Journal of Clinical Immunology
#18
Xiaoke Xu, Meng Niu, Benjamin G Lamberty, Katy Emanuel, Andrew J Trease, Mehnaz Tabassum, Jeffrey D Lifson, Howard S Fox
UNLABELLED: Human Immunodeficiency Virus (HIV) is widely acknowledged for its profound impact on the immune system. Although HIV primarily affects peripheral CD4 T cells, its influence on the central nervous system (CNS) cannot be overlooked. Within the brain, microglia and CNS-associated macrophages (CAMs) serve as the primary targets for HIV, as well as for the simian immunodeficiency virus (SIV) in nonhuman primates. This infection can lead to neurological effects and the establishment of a viral reservoir...
April 4, 2024: bioRxiv
#19
Evelina Rogges, Sabrina Pelliccia, Camilla Savio, Gianluca Lopez, Irene Della Starza, Giacinto La Verde, Arianna Di Napoli
Human herpesvirus 8 (HHV8)-associated diseases include Kaposi sarcoma (KS), multicentric Castleman disease (MCD), germinotropic lymphoproliferative disorder (GLPD), Kaposi sarcoma inflammatory cytokine syndrome (KICS), HHV8-positive diffuse large B-cell lymphoma (HHV8+ DLBCL), primary effusion lymphoma (PEL), and extra-cavitary PEL (ECPEL). We report the case of a human immunodeficiency virus (HIV)-negative male treated for cutaneous KS, who developed generalized lymphadenopathy, hepatosplenomegaly, pleural and abdominal effusions, renal insufficiency, and pancytopenia...
March 28, 2024: International Journal of Molecular Sciences
#20
JOURNAL ARTICLE
Debashis Dutta, Jianuo Liu, Enquan Xu, Huangui Xiong
Human Immunodeficiency Virus type 1 (HIV-1)-associated neurocognitive disorders (HANDs) remain prevalent in HIV-1-infected individuals despite the evident success of combined antiretroviral therapy (cART). The mechanisms underlying HAND prevalence in the cART era remain perplexing. Ample evidence indicates that HIV-1 envelope glycoprotein protein 120 (gp120), a potent neurotoxin, plays a pivotal role in HAND pathogenesis. Methamphetamine (Meth) abuse exacerbates HANDs, but how this occurs is not fully understood...
March 22, 2024: International Journal of Molecular Sciences
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