keyword
https://read.qxmd.com/read/33727065/successful-treatment-of-a-novel-type-i-interferonopathy-due-to-a-de-novo-psmb9-gene-mutation-with-a-janus-kinase-inhibitor
#21
JOURNAL ARTICLE
Shinsuke Kataoka, Nozomu Kawashima, Yusuke Okuno, Hideki Muramatsu, Shunsuke Miwata, Kotaro Narita, Motoharu Hamada, Norihiro Murakami, Rieko Taniguchi, Daisuke Ichikawa, Hironobu Kitazawa, Kyogo Suzuki, Eri Nishikawa, Atsushi Narita, Nobuhiro Nishio, Hidenori Yamamoto, Yoshie Fukasawa, Taichi Kato, Hiroyuki Yamamoto, Jun Natsume, Seiji Kojima, Ichizo Nishino, Takeshi Taketani, Hidenori Ohnishi, Yoshiyuki Takahashi
BACKGROUND: Type I interferonopathies are a recently established subgroup of autoinflammatory diseases caused by mutations in genes associated with proteasome degradation or cytoplasmic RNA and DNA sensing pathways. OBJECTIVE: This study aimed to unveil the molecular pathogenesis of a patient with novel type I interferonopathy, for which no known genetic mutations have been identified. METHODS: We performed the whole exome sequencing (WES) of a 1-month-old boy with novel type I interferonopathy...
March 13, 2021: Journal of Allergy and Clinical Immunology
https://read.qxmd.com/read/33586174/role-of-resolvin-d1-in-psoriasis-before-and-after-narrowband-ultraviolet-b-phototherapy-a-case-control-study
#22
JOURNAL ARTICLE
Maha Fathy Elmasry, Eman Hassan, Laila Ahmed Rashed, Dalia Mohamed Abdel Halim
Resolvin D1 (RvD1) is an endogenous lipid mediator that originated from docosahexaenoic acid that stimulates a bimodal mechanism in the anti-inflammatory activity in addition to regulation of the inflammatory reaction. The study aimed at assessing the tissue level of RvD1 in psoriasis to study its role in the etiopathogenesis of psoriasis, studying the action of NB-UVB on the level of resolvin D1 in psoriasis, and raising the possibility of using resolvin D1 as a new therapy for psoriasis in the future. This case-control study included 20 psoriasis patients and 20 healthy controls...
February 14, 2021: Dermatologic Therapy
https://read.qxmd.com/read/33571168/clinical-and-laboratory-evaluation-of-patients-with-sars-cov-2-pneumonia-treated-with-high-titer-convalescent-plasma
#23
JOURNAL ARTICLE
Michele L Donato, Steven Park, Melissa Baker, Robert Korngold, Alison Morawski, Xue Geng, Ming Tan, Andrew Ip, Stuart Goldberg, Scott D Rowley, Kar F Chow, Emily Brown, Joshua Zenreich, Phyllis McKiernan, Kathryn Buttner, Anna Ullrich, Laura Long, Rena Feinman, Andrea Ricourt, Marlo Kemp, Mariefel Vendivil, Hyung C Suh, Bindu Balani, Cristina Cicogna, Rani Sebti, Abdulla Al-Khan, Steven J Sperber, Samit Desai, Stacey L Fanning, Danit Arad, Ronaldo C Go, Elizabeth Tam, Keith Rose, Sean Sadikot, David S Siegel, Martin Gutierrez, Tatyana Feldman, Andre Goy, Andrew Pecora, Noa Biran, Lori A Leslie, Alfred Gillio, Sarah Timmapuri, Michele S Boonstra, Sam Singer, Sukhdeep Kaur, Ernest Richards, David S Perlin
We are reporting on a phase IIa study which aimed to determine the intubation rate, survival, viral clearance, and the development of endogenous antibodies in patients with COVID-19 pneumonia treated with convalescent plasma (CCP) containing high levels of neutralizing anti-SARS-CoV-2 antibodies. All 51 treated patients had COVID-19 pneumonia by radiographic and laboratory evaluation. Fresh or frozen CCP from donors with high titers of neutralizing antibodies was administered. The non-mechanically ventilated patients (n=36) had an intubation rate of 13...
February 11, 2021: JCI Insight
https://read.qxmd.com/read/33344752/safety-tolerability-and-pharmacokinetics-of-allopregnanolone-as-a-regenerative-therapeutic-for-alzheimer-s-disease-a-single-and-multiple-ascending-dose-phase-1b-2a-clinical-trial
#24
JOURNAL ARTICLE
Gerson D Hernandez, Christine M Solinsky, Wendy J Mack, Naoko Kono, Kathleen E Rodgers, Chun-Yi Wu, Ana R Mollo, Claudia M Lopez, Sonia Pawluczyk, Gerhard Bauer, Dawn Matthews, Yonggang Shi, Meng Law, Michael A Rogawski, Lon S Schneider, Roberta D Brinton
Introduction: Allopregnanolone is an endogenous neurosteroid with the potential to be a novel regenerative therapeutic for Alzheimer's disease (AD). Foundations of mechanistic understanding and well-established preclinical safety efficacy make it a viable candidate. Methods: A randomized, double-blinded, placebo-controlled, single and multiple ascending dose trial was conducted. Intravenous allopregnanolone or placebo was administered once-per-week for 12 weeks with a 1-month follow-up...
2020: Alzheimer's & Dementia: Translational Research & Clinical Interventions
https://read.qxmd.com/read/33292727/clinical-management-of-patients-with-cushing-syndrome-treated-with-mifepristone-consensus-recommendations
#25
REVIEW
David R Brown, Honey E East, Bradley S Eilerman, Murray B Gordon, Elizabeth E King, Laura A Knecht, Brandon Salke, Susan L Samson, Kevin C J Yuen, Hanford Yau
BACKGROUND: While surgery is the first-line treatment for patients with endogenous hypercortisolism (Cushing syndrome [CS]), mifepristone has been shown to be a beneficial medical treatment option, as demonstrated in the SEISMIC (Study of the Efficacy and Safety of Mifepristone in the Treatment of Endogenous Cushing Syndrome) trial. Mifepristone is a competitive glucocorticoid receptor antagonist and progesterone receptor antagonist that is associated with several treatment effects and adverse events that clinicians need to be aware of when considering its use...
October 29, 2020: Clinical Diabetes and Endocrinology
https://read.qxmd.com/read/33224145/roles-of-interactions-between-toll-like-receptors-and-their-endogenous-ligands-in-the-pathogenesis-of-systemic-juvenile-idiopathic-arthritis-and-adult-onset-still-s-disease
#26
REVIEW
Ju-Yang Jung, Ji-Won Kim, Chang-Hee Suh, Hyoun-Ah Kim
Systemic juvenile idiopathic arthritis (JIA) and adult-onset Still's disease (AOSD) are systemic inflammatory disorders that manifest as high-spiking fever, joint pain, evanescent skin rash, and organomegaly. Their pathogenesis is unclear, but inflammation is triggered by activation of the innate immune system with aberrant production of proinflammatory cytokines. Along with extrinsic factors, intrinsic pathways can trigger an unexpected immune response. Damage-associated molecular patterns (DAMPs) induce the activation of innate immune cells, leading to sterile inflammation in systemic JIA and AOSD...
2020: Frontiers in Immunology
https://read.qxmd.com/read/33108647/granulomatous-cutaneous-drug-eruptions-a-systematic-review
#27
Nidhi Shah, Monica Shah, Aaron M Drucker, Neil H Shear, Michael Ziv, Roni P Dodiuk-Gad
BACKGROUND: Granulomatous drug eruptions are rare entities, where granuloma formation occurs as an attempt to contain an exogenous or endogenous inciting agent. Granulomatous drug eruptions may be localized to the skin or may include major systemic involvement, and their characteristics depend both on the properties of the causative irritant and host factors. Because of the overlapping features amongst noninfectious granulomatous diseases, granulomatous drug eruptions are challenging to diagnose and distinguish both histologically and clinically...
January 2021: American Journal of Clinical Dermatology
https://read.qxmd.com/read/32665921/disseminated-strongyloides-stercoralis-infection-associated-with-endogenous-hypercortisolism-a-case-report
#28
JOURNAL ARTICLE
Susana Lemos Cabral, Nuno Deveza, João Pedro Baptista, Paulo Martins
Patients with Strongyloides stercoralis infections are usually asymptomatic but massive hyperinfection may occur in patients with diseases associated with abnormal cell-mediated immunity or receiving immunosuppressive therapy. The authors present the clinical case of a 49-year-old man with a history of diarrhoea and cramping abdominal pain, generalized oedema, petechial rash, melanoderma, cough and dyspnoea. He presented hypokalaemia and arterial hypertension and was admitted with the diagnostic hypothesis of Cushing's syndrome or adrenocorticotropic hormone ectopic production...
2020: European Journal of Case Reports in Internal Medicine
https://read.qxmd.com/read/32438036/molecular-basis-of-the-therapeutic-properties-of-hemorphins
#29
REVIEW
Amanat Ali, Seham Abdullah Rashed Alzeyoudi, Shamma Abdulla Almutawa, Alya Nasir Alnajjar, Ranjit Vijayan
Hemorphins are endogenous peptides, 4-10 amino acids long, belonging to the family of atypical opioid peptides released during the sequential cleavage of hemoglobin protein. Hemorphins have been shown to exhibit diverse therapeutic effects in both human and animal models. However, the precise cellular and molecular mechanisms involved in such effects remain elusive. In this review, we summarize and propose potential mechanisms based on studies that investigated the biological activity of hemorphins of different lengths on multiple therapeutic targets...
May 8, 2020: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
https://read.qxmd.com/read/32210030/camel-hemorphins-exhibit-a-more-potent-angiotensin-i-converting-enzyme-inhibitory-activity-than-other-mammalian-hemorphins-an-in-silico-and-in-vitro-study
#30
JOURNAL ARTICLE
Amanat Ali, Seham Abdullah Rashed Alzeyoudi, Shamma Abdulla Almutawa, Alya Nasir Alnajjar, Yusra Al Dhaheri, Ranjit Vijayan
Angiotensin-I converting enzyme (ACE) is a zinc metallopeptidase that has an important role in regulating the renin-angiotensin-aldosterone system (RAAS). It is also an important drug target for the management of cardiovascular diseases. Hemorphins are endogenous peptides that are produced by proteolytic cleavage of beta hemoglobin. A number of studies have reported various therapeutic activities of hemorphins. Previous reports have shown antihypertensive action of hemorphins via the inhibition of ACE. The sequence of hemorphins is highly conserved among mammals, except in camels, which harbors a unique Q>R variation in the peptide...
March 23, 2020: Biomolecules
https://read.qxmd.com/read/31821951/the-laboratory-investigation-of-a-measles-outbreak-in-the-eve-of-its-elimination-in-sri-lanka
#31
JOURNAL ARTICLE
Buddhini Samaraweera, Adhyana Mahanama, Almarz Z Ahamad, Gayan I Wimalaratne, Janaki Abeynayake
BACKGROUND: Measles is highly contagious and cause significant morbidity and mortality. Sri-Lanka has the goal to eliminate endogenous measles by 2020 in par with WHO. OBJECTIVE: To describe laboratory confirmation and genotype distribution of measles cases during the outbreak occurred from mid-March to May 2019, Sri-Lanka STUDY DESIGN: This retrospective study was conducted at National Measles Reference Laboratory (NMRL), Sri-Lanka. All samples received were tested according to the testing flow chart at NMRL with WHO recommended kits...
November 26, 2019: Journal of Clinical Virology
https://read.qxmd.com/read/31622263/varicella-zoster-virus-cns-disease-clinical-features-in-ukrainian-patients-prospective-study
#32
JOURNAL ARTICLE
Pavel A Dyachenko
OBJECTIVE: Introduction: Herpes zoster (HZ), or shingles, is localized disease characterized by unilateral radicular pain and a vesicular rash limited to the area of skin innervated by a single dorsal root or cranial sensory ganglion. Whereas varicella, or chickenpox, results from primary exogenous varicella-zoster virus (VZV) infection, HZ is caused by reactivation of endogenous VZV that has persisted in latent form within sensory ganglia following an earlier episode of chickenpox. The aim: To explore the clinical features, diagnosis, and treatment of CNS injury caused by VZV infection in a prospective single center study from January 2014 to January 2018...
2019: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://read.qxmd.com/read/31423125/interferon-inducible-protein-ifi-16-regulates-chikungunya-and-zika-virus-infection-in-human-skin-fibroblasts
#33
JOURNAL ARTICLE
Sineewanlaya Wichit, Rodolphe Hamel, Sakda Yainoy, Nuttamonpat Gumpangseth, Suchawadee Panich, Thanawat Phuadraksa, Phoonthawee Saetear, Arnaud Monteil, Ronald Morales Vargas, Dorothée Missé
Chikungunya virus (CHIKV), a re-emerging infectious arbovirus, causes Chikungunya fever that is characterized by fever, skin rash, joint pain, arthralgia and occasionally death. Despite it has been described for 66 years already, neither potential vaccine nor a specific drug is available yet. During CHIKV infection, interferon type I signaling pathway is stimulated and releases hundreds of interferon stimulated genes (ISGs). Our previous study reported that IFI16, a member of ISGs, is up-regulated during CHIKV virus infection and the suppression of the gene resulted in increased virus replication...
2019: EXCLI Journal
https://read.qxmd.com/read/31101882/histopathology-and-expression-of-the-chemokines-cxcl10-cxcl13-and-cxcr3-and-the-endogenous-tlr-4-ligand-s100a8-a9-in-lymph-nodes-of-patients-with-adult-onset-still-s-disease
#34
JOURNAL ARTICLE
Hyoun-Ah Kim, Yon Hee Kim, Yoon Kyung Jeon, Woo-Ick Yang, Ji Eun Kwon, Jae Ho Han
Adult-onset Still's disease (AOSD) is a rare systemic inflammatory disease manifesting with a persistent high-spiking fever, a typical rash, and lymphadenopathy. Endogenous factors related to interleukin-1, such as S100A8/A9 and several chemokines including CXCL10, CXCR3, and CXCL13, potentially play roles in its pathogenesis. We describe the histopathological features and chemokine expression pattern in lymph nodes (LNs) of patients with AOSD. Formalin-fixed, paraffin-embedded excisional LN tissues from 48 patients with AOSD were histologically reviewed...
May 17, 2019: Scientific Reports
https://read.qxmd.com/read/30863763/fatal-meningococcal-meningitis-in-a-2-year-old-child-a-case-report
#35
Aleksander Mularski, Czesław Żaba
BACKGROUND: In fatal cases of meningococcal septicemia, bacteriological diagnosis may not be straightforward due to postmortem replication and relocation of endogenic microflora. In medicolegal practice, aside from routine autopsy and histopathology, also other diagnostic methods, such as microbiological tests, immunohistochemistry and polymerase chain reaction (PCR), are used to examine body fluids and tissues. CASE SUMMARY: We present the case of sudden death in a 2-year-old child...
March 6, 2019: World Journal of Clinical Cases
https://read.qxmd.com/read/30625302/mitochondrial-lonp1-protects-cardiomyocytes-from-ischemia-reperfusion-injury-in-vivo
#36
JOURNAL ARTICLE
Sundararajan Venkatesh, Min Li, Toshiro Saito, Mingming Tong, Eman Rashed, Satvik Mareedu, Peiyong Zhai, Clea Bárcena, Carlos López-Otín, Ghassan Yehia, Junichi Sadoshima, Carolyn K Suzuki
RATIONALE: LonP1 is an essential mitochondrial protease, which is crucial for maintaining mitochondrial proteostasis and mitigating cell stress. However, the importance of LonP1 during cardiac stress is largely unknown. OBJECTIVE: To determine the functions of LonP1 during ischemia/reperfusion (I/R) injury in vivo, and hypoxia-reoxygenation (H/R) stress in vitro. METHODS AND RESULTS: LonP1 was induced 2-fold in wild-type mice during cardiac ischemic preconditioning (IPC), which protected the heart against ischemia-reperfusion (I/R) injury...
January 6, 2019: Journal of Molecular and Cellular Cardiology
https://read.qxmd.com/read/30062376/herpes-zoster-vaccine-a-protection-for-the-elderly
#37
JOURNAL ARTICLE
A Di Pietro, A Facciolà, G Visalli
The Herpes Zoster vaccine is strongly recommended by the World Health Organization to promote healthy aging by preventing the corresponding age- related disease, also named shingles. The disease is due to the endogenous reactivation of Varicella Zoster Virus, the causal agent of chickenpox, that becomes latent at the peripheral nervous system level. Here, owing to the host's cell-mediated immunity, it may be confined for several decades. However, the immune senescence allows the possibility of virus reactivation, causing the onset of neuropathic pain and skin rash that characterize the acute disease...
2018: Annali di Igiene: Medicina Preventiva e di Comunità
https://read.qxmd.com/read/28141506/antiviral-activity-of-acid-beta-glucosidase-1-on-enterovirus-71-a-causative-agent-of-hand-foot-and-mouth-disease
#38
JOURNAL ARTICLE
Keiko Nakata, Satoshi Takeda, Atsushi Tanaka, Jimmy Kwang, Jun Komano
Enterovirus 71 (EV71) is a causative agent of hand, foot and mouth disease (HFMD). EV71 causes fever, rash, diarrhoea and, in some cases, acute encephalopathy/encephalitis, which can be fatal. No specific treatment is currently available for EV71 infection. Here, we conducted a cDNA library screen and identified acid β-glucosidase 1 (GBA1; also known as β-glucocerebrosidase) as an EV71 resistance factor. The anti-EV71 function of GBA1 was verified by gene transduction and knockdown experiments. Cerezyme, a molecular drug used to treat Gaucher's disease and having recombinant human GBA1 as the active ingredient, protected against EV71 infection...
April 2017: Journal of General Virology
https://read.qxmd.com/read/28128088/gestational-pityriasis-rosea-suggestions-for-approaching-affected-pregnant-women
#39
LETTER
Alexandra Monastirli, Efstathia Pasmatzi, George Badavanis, Dionysios Tsambaos
Dear Editor, Pityriasis rosea is a common, acute, and self-limiting dermatosis, which is associated with the endogenous systemic reactivation of human herpesvirus (HHV)-6 and/or HHV-7 (1). It predominantly affects individuals of both sexes in their second or third decade of life and is clinically characterized by the occurrence of an initial erythematosquamous plaque followed by the appearance of disseminated similar but smaller lesions one or two weeks later. Several patients develop systemic symptoms such as nausea, anorexia, malaise, headache, fever, arthralgia, and lymphadenopathy that may precede or accompany the eruption; the latter follows the cleavage lines of the trunk creating the configuration of a Christmas tree and spontaneously resolves within 4 to 8 weeks...
December 2016: Acta Dermatovenerologica Croatica: ADC
https://read.qxmd.com/read/27399164/endogenous-plasma-and-salivary-uracil-to-dihydrouracil-ratios-and-dpyd-genotyping-as-predictors-of-severe-fluoropyrimidine-toxicity-in-patients-with-gastrointestinal-malignancies
#40
JOURNAL ARTICLE
Andrés Fernando Andrade Galarza, Rafael Linden, Marina Venzon Antunes, Roberta Zilles Hahn, Suziane Raymundo, Anne Caroline Cezimbra da Silva, Rodrigo Staggemeier, Fernando Rosado Spilki, Gilberto Schwartsmann
OBJECTIVE: The aim of this study was to evaluate the use of plasma and saliva uracil (U) to dihydrouracil (UH2 ) metabolic ratio and DPYD genotyping, as a means to identify patients with dihydropyrimidine dehydrogenase (DPD) deficiency and fluoropyrimidine toxicity. METHODS: Paired plasma and saliva samples were obtained from 60 patients with gastrointestinal cancer, before fluoropyrimidine treatment. U and UH2 concentrations were measured by LC-MS/MS. DPYD was genotyped for alleles *7, *2A, *13 and Y186C...
November 2016: Clinical Biochemistry
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