Use the keywords feature with a free QxMD account.
Use Read by QxMD to access full text via your institution or open access sources.
Read also provides personalized recommendations to keep you up to date in your field.
Existing User
Sign InNew to Read
Sign Up#1
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
#2
RANDOMIZED CONTROLLED TRIAL
Harish Chandra, Adil Rahman, Prashant Yadav, Geeta Maurya, Sushil Kumar Shukla
BACKGROUND: Since, Vitamin D [1α,25(OH)2 D)] enhances antimicrobial activity of Innate immunity and modulate Adaptive immune responses, simultaneously, so it play a potential role for balanced immune activity against Mycobacterium tuberculosis and restricting tissue injuries within the TB patients.(Chun et al., 2011) 9 We aimed to determine the role of adjunct Vitamin D treatment on the outcome of pulmonary tuberculosis patients and evaluated the effect of Vitamin D administration on Differential Leucocyte Count, Erythrocyte Sedimentation Rate, serum Adenosine deaminase, serum C- reactive protein, Oxygen saturation (SpO2) and Body Weight in Vitamin D deficient pulmonary tuberculosis patients...
April 2024: Indian Journal of Tuberculosis
#3
JOURNAL ARTICLE
Mei-Lang Kung, Tai-Hua Yang, Chia-Chi Lin, Jia-Yun Ho, Tzu-Chi Hung, Chih-Hsiang Chang, Kuan-Wen Huang, Chien-Chin Chen, Yun-Wen Chen
BACKGROUND: Non-alcoholic fatty liver disease (NAFLD) is the most common cause of chronic liver disease worldwide. Sarcopenia is a syndrome characterized by progressive and generalized loss of skeletal muscle mass and strength, which is commonly associated with NAFLD. Adenosine-to-inosine editing, catalysed by adenosine deaminase acting on RNA (ADAR), is an important post-transcriptional modification of genome-encoded RNA transcripts. Three ADAR gene family members, including ADAR1, ADAR2 and ADAR3, have been identified...
March 27, 2024: Journal of Cachexia, Sarcopenia and Muscle
#4
REVIEW
Embracing Spectrum: Celebrating LGBTQIA+ Journeys in Aesthetic Medicine: A Kaleidoscope of Identity.
Eqram Rahman, Parinitha Rao, William Richard Webb, Wolfgang G Philipp-Dormston, Karim Sayed, Ada R T Almeida, Ash Mosahebi, Jean D A Carruthers, Alastair Carruthers
PURPOSE: This synaptic systemised review critically examines the provision of aesthetic medical care to LGBTQIA+ (lesbian, gay, bisexual, transgender, queer or questioning, intersex, asexual, and more) individuals, assessing both the clinical practices and the educational frameworks that guide interactions with LGBTQIA+ patients in aesthetic settings. METHODS: Following PRISMA-S guidelines, a comprehensive review was conducted, initially identifying 159 potentially relevant articles...
March 18, 2024: Aesthetic Plastic Surgery
#5
JOURNAL ARTICLE
Adam V Wisnewski, Jian Liu
Mechanisms underlying methylene diphenyl diisocyanate (MDI) and other low molecular weight chemical-induced asthma are unclear and appear distinct from those of high molecular weight (HMW) allergen-induced asthma. We sought to elucidate molecular pathways that differentiate asthma-like pathogenic vs nonpathogenic responses to respiratory tract MDI exposure in a murine model. Lung gene expression differences in MDI exposed immune-sensitized and nonsensitized mice vs unexposed controls were measured by microarrays, and associated molecular pathways were identified through bioinformatic analyses and further compared with published studies of a prototypic HMW asthmagen (ovalbumin)...
March 18, 2024: Chemical Research in Toxicology
#6
JOURNAL ARTICLE
Houhong Wang, Xiaoyu Wei, Lu Liu, Junfeng Zhang, Heng Li
BACKGROUND: A-to-I RNA editing is an abundant post-transcriptional modification event in hepatocellular carcinoma (HCC). Evidence suggests that adenosine deaminases acting on RNA 1 (ADAR1) correlates to oxidative stress that is a crucial factor of HCC pathogenesis. The present study investigated the effect of ADAR1 on survival and oxidative stress of HCC, and underlying mechanisms. METHODS: ADAR1 expression was measured in fifty HCC and normal tissues via real-time quantitative PCR, and immunohistochemistry...
March 11, 2024: Experimental Hematology & Oncology
#7
JOURNAL ARTICLE
Maddalena Migliavacca, Federica Barzaghi, Claudia Fossati, Paola M V Rancoita, Michela Gabaldo, Francesca Dionisio, Stefania Giannelli, Federica Andrea Salerio, Francesca Ferrua, Francesca Tucci, Valeria Calbi, Vera Gallo, Salvatore Recupero, Giulia Consiglieri, Roberta Pajno, Maria Sambuco, Alessio Priolo, Chiara Ferri, Vittoria Garella, Ilaria Monti, Paolo Silvani, Silvia Darin, Miriam Casiraghi, Ambra Corti, Stefano Zancan, Margherita Levi, Daniela Cesana, Filippo Carlucci, Anna Pituch-Noworolska, Dalia AbdElaziz, Ulrich Baumann, Andrea Finocchi, Caterina Cancrini, Saverio Ladogana, Andrea Meinhardt, Isabelle Meyts, Davide Montin, Lucia Dora Notarangelo, Fulvio Porta, Marlène Pasquet, Carsten Speckmann, Polina Stepensky, Alberto Tommasini, Marco Rabusin, Zeynep Karakas, Miguel Galicchio, Lucia Leonardi, Marzia Duse, Sukru Nail Guner, Clelia Di Serio, Fabio Ciceri, Maria Ester Bernardo, Alessandro Aiuti, Maria Pia Cicalese
Adenosine deaminase (ADA) deficiency leads to severe combined immunodeficiency (SCID). Previous clinical trials showed that autologous CD34+ cell gene therapy (GT) following busulfan reduced-intensity conditioning is a promising therapeutic approach for ADA-SCID, but long-term data are warranted. Here we report an analysis on long-term safety and efficacy data of 43 patients with ADA-SCID who received retroviral ex vivo bone marrow-derived hematopoietic stem cell GT. Twenty-two individuals (median follow-up 15...
February 14, 2024: Nature Medicine
#8
Qianyun Cai, Fan Feng, Yanmei Tian, Rong Luo, Dezhi Mu, Fan Yang, Zuozhen Yang, Zhongjie Zhou
Deficiency of adenosine deaminase 2 (DADA2) is a monogenic disease caused by biallelic mutations in adenosine deaminase 2 (ADA2). The varying phenotypes of the disease often lead to delayed diagnosis or misdiagnosis. We report an 11-year-old boy with DADA2 and provide a preliminary analysis of genotype-phenotype correlation. The age of onset of the disease was 8 years old. The disease successively involved the brainstem, muscles, joints, and cerebrum. After three relapse-remission episodes over 3 years, the patient was finally diagnosed with DADA2 by whole-exome sequencing...
February 14, 2024: American Journal of Medical Genetics. Part A
#9
Hong Yu, Hiroshi Nishio, Joseph Barbi, Marisa Mitchell-Flack, Paolo D A Vignali, Ying Zheng, Andriana Lebid, Kwang-Yu Chang, Juan Fu, Makenzie Higgins, Ching-Tai Huang, Xuehong Zhang, Zhiguang Li, Lee Blosser, Ada Tam, Charles G Drake, Drew M Pardoll
The adaptive T cell response is accompanied by continuous rewiring of the T cell's electric and metabolic state. Ion channels and nutrient transporters integrate bioelectric and biochemical signals from the environment, setting cellular electric and metabolic states. Divergent electric and metabolic states contribute to T cell immunity or tolerance. Here, we report that neuritin (Nrn1) contributes to tolerance development by modulating regulatory and effector T cell function. Nrn1 expression in regulatory T cells promotes its expansion and suppression function, while expression in the T effector cell dampens its inflammatory response...
February 2, 2024: bioRxiv
#10
JOURNAL ARTICLE
Omer Karadag, Ertugrul Cagri Bolek, Gizem Ayan, Aladdin J Mohammad, Peter C Grayson, Christian Pagnoux, Eduardo Martín-Nares, Sara Monti, Yoshiyuki Abe, Federico Alberici, Fatma Alibaz-Oner, David Cuthbertson, Lorenzo Dagna, Haner Direskeneli, Nader A Khalidi, Curry Koening, Carol A Langford, Carol A McAlear, Paul A Monach, Luca Moroni, Roberto Padoan, Phillip Seo, Kenneth J Warrington, Alojzija Hocevar, Andrea Hinojosa-Azaola, Shunsuke Furuta, Giacomo Emmi, Seza Ozen, David Jayne, Peter A Merkel
OBJECTIVE: We describe the demographics, clinical features, disease course, and survival of polyarteritis nodosa (PAN) through an international collaboration (GLOBAL-PAN). METHODS: Patients with PAN were recruited between 1990 and 2020 from observational cohorts of nine countries across Europe, Japan, and North America. Eligibility was retrospectively defined using the European Medicines Agency classification algorithm. Patients with PAN related to hepatitis B virus (n = 12) and two monogenic diseases mimicking PAN, deficiency of adenosine deaminase 2 enzyme (n = 16) or familial Mediterranean fever (n = 11), were excluded...
February 12, 2024: Arthritis & Rheumatology
#11
REVIEW
Alessandro Romano, Alessandra Mortellaro
Inflammatory diseases are conditions characterized by abnormal and often excessive immune responses, leading to tissue and organ inflammation. The complexity of these disorders arises from the intricate interplay of genetic factors and immune responses, which challenges conventional therapeutic approaches. However, the field of genetic manipulation has sparked unprecedented optimism in addressing these complex disorders. This review aims to comprehensively explore the application of gene therapy and gene editing in the context of inflammatory diseases, offering solutions that range from correcting genetic defects to precise immune modulation...
April 2024: Human Gene Therapy
#12
JOURNAL ARTICLE
Irini Manoli, Justin R Sysol, PamelaSara E Head, Madeline W Epping, Oksana Gavrilova, Melissa K Crocker, Jennifer L Sloan, Stefanos A Koutsoukos, Cindy X Wang, Yiouli P Ktena, Sophia Mendelson, Alexandra R Pass, Patricia M Zerfas, Victoria J Hoffmann, Hilary J Vernon, Laura A Fletcher, James C Reynolds, Maria G Tsokos, Constantine A Stratakis, Stephan D Voss, Kong Y Chen, Rebecca J Brown, Ada Hamosh, Gerard T Berry, Xiaoyuan Chen, Jack A Yanovski, Charles P Venditti
A distinct adipose tissue distribution pattern was observed in patients with methylmalonyl-CoA mutase deficiency, an inborn error of branched-chain amino acid (BCAA) metabolism, characterized by centripetal obesity with proximal upper and lower extremities fat deposition and paucity of visceral fat, that resembles familial multiple lipomatosis syndrome. To explore brown and white fat physiology in methylmalonic acidemia (MMA), body composition, adipokines and inflammatory markers were assessed in 46 MMA subjects and 99 matched controls...
January 25, 2024: JCI Insight
#13
JOURNAL ARTICLE
Qiqi Zhao, Wenhui Ren, Huifei Zhu, Qiuzhen Wu, Chunyu Zhang, Xiaoqiong Xu, Binbin Luo, Yuji Huang, Yukun Chen, Yuling Lin, Zhongxiong Lai
The Spt-Ada-Gcn5-acetyltransferase (SAGA) is an ancillary transcription initiation complex which is highly conserved. The ADA1 (alteration/deficiency in activation 1, also called histone H2A functional interactor 1, HFI1) is a subunit in the core module of the SAGA protein complex. ADA1 plays an important role in plant growth and development as well as stress resistance. In this paper, we performed genome-wide identification of banana ADA1 gene family members based on banana genomic data, and analyzed the basic physicochemical properties, evolutionary relationships, selection pressure, promoter cis -acting elements, and its expression profiles under biotic and abiotic stresses...
January 25, 2024: Sheng Wu Gong Cheng Xue Bao, Chinese Journal of Biotechnology
#14
REVIEW
Aimee Rachel Mathew, Giacomo Di Matteo, Piergiorgio La Rosa, Saviana Antonella Barbati, Luisa Mannina, Sandra Moreno, Ada Maria Tata, Virve Cavallucci, Marco Fidaleo
Vitamin B12 (VitB12) is a micronutrient and acts as a cofactor for fundamental biochemical reactions: the synthesis of succinyl-CoA from methylmalonyl-CoA and biotin, and the synthesis of methionine from folic acid and homocysteine. VitB12 deficiency can determine a wide range of diseases, including nervous system impairments. Although clinical evidence shows a direct role of VitB12 in neuronal homeostasis, the molecular mechanisms are yet to be characterized in depth. Earlier investigations focused on exploring the biochemical shifts resulting from a deficiency in the function of VitB12 as a coenzyme, while more recent studies propose a broader mechanism, encompassing changes at the molecular/cellular levels...
January 2, 2024: International Journal of Molecular Sciences
#15
JOURNAL ARTICLE
Yunfeng Zhou, Qian Zhao, Yixuan Zhang, Lulu Di, Feng Xue, Wangjun Xu, Weiping Gao, Yukun Guo, Yangyang He, Jiejian Kou, Ying Qin, Xinmei Xie, Lida Du, Guang Han, Xiaobin Pang
BACKGROUND: Alzheimer's disease (AD) is one of the most common neurodegenerative diseases and mitophagy deficit was identified as the typical abnormality in early stage of AD. The neuroprotective effect of andrographolide (AGA) has been confirmed, anda acetylated derivative of AGA (3,14,19-triacetylandrographolide, ADA) was considered to have stronger efficacy. PURPOSE: The current study aims to investigate the impact of ADA on cognitive ability in a sporadic AD model and explore its potential mechanism...
December 17, 2023: Phytomedicine
#16
REVIEW
Ulrike Sixdorf, Elisabeth Märker-Hermann
Polyarteritis nodosa (PAN) and Kawasaki syndrome (KS) are rare forms of primary vasculitis with heterogeneous manifestations and courses of the disease. According to the Chapel Hill Consensus Conference 2012 they belong to the vasculitis of medium size vessels. In contrast to microscopic polyangiitis (MPA), PAN and KS do not affect microscopic vessels such as arterioles, venules or capillaries and are not associated with antineutrophil cytoplasmic antibodies (ANCA). The diagnostics are based on the typical constellation of clinical symptoms, on angiographic findings, the exclusion of other differential diagnoses and, in the case of PAN, in the histopathological confirmation...
February 2024: Inn Med (Heidelb)
#17
JOURNAL ARTICLE
R G Esin, A F Fatykhova, O R Esin
The review considers the clinical picture, key aspects of the diagnosis and treatment of vasculitis that are the causes of strokes (giant cell arteritis, polyarteritis nodosa, varicella zoster virus vasculopathy, cerebrovascular pathology caused by herpes simplex virus types 1 and 2, primary CNS angiitis, adenosine deaminase-2 deficiency).
2023: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
#18
JOURNAL ARTICLE
Hisato Shima, Takahiro Tsukimura, Tomoko Shiga, Tadayasu Togawa, Hitoshi Sakuraba, Toshio Doi, Yuka Ikeda, Takuya Okamoto, Yukari Yoshikawa, Takehiko Kimura, Takashi Iwase, Tomoko Inoue, Manabu Tashiro, Kazuyoshi Okada, Jun Minakuchi
Fabry disease is an X-linked hereditary disorder caused by deficient α-galactosidase A (GLA) activity. Patients with Fabry disease are often treated with enzyme replacement therapy (ERT). However, ERT often induces the formation of neutralizing antidrug antibodies (ADAs), which may impair the therapeutic efficacy. Here, we report the case of a 32-year-old man with Fabry disease and resultant neutralizing ADAs who was treated by switching from agalsidase-α to agalsidase-β. We monitored biomarkers, such as plasma globotriaosylsphingosine (lyso-Gb3), urinary globotriaosylceramide (Gb3), urinary mulberry bodies, renal and cardiac parameters, and disease severity during the treatment period...
December 22, 2023: CEN Case Reports
#19
JOURNAL ARTICLE
M B Ates, S Karup, S Ugurlu
Deficiency of adenosine deaminase 2 (DADA2) is a recessively inherited autoinflammatory disease characterized by systemic inflammation and immunodeficiency. Infliximab proved to be favorable in the treatment of this condition. This case report is concerned with a DADA2 deficient patient treated with infliximab. This is a rare case of DADA2 in a 32-year-old female patient. The patient was admitted with a clinical presentation of erythema, ulcers, and pruritus on both legs and ankles, accompanied by red ulcerative oral lesions, fatigue, malaise, and dizziness...
December 19, 2023: Reumatismo
#20
REVIEW
Sujata Sawhney
Of the primary vasculitis pediatricians are familiar with, Kawasaki disease and IgA vasculitis are the most common. The other large, medium and small vessel vasculitis are seldom seen in practice. Though rare, early diagnosis and appropriate management is critical for the best outcome. Primary vasculitis in the pediatric age group have several differential diagnoses which range from infections to monogenic causes such as deficiency of Adenosine Deaminase -2. Each child, therefore, needs a careful systematic approach...
December 15, 2023: Indian Journal of Pediatrics
Make the most of Read.
Download the mobile app.
Download the mobile app.
Fetching more papers... 
