Articles: disease.
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Systemic lupus erythematosus (SLE) is a chronic, rare autoimmune disease. In recent years, multiple monogenic diseases with early onset autoimmunity and lymphoproliferation have been identified, such as autoimmune lymphoproliferative syndrome, rat sarcoma (RAS)-associated autoimmune leukoproliferative disease, signal transducer and activator of transcription 3 gain-of-function syndrome and interleukin-2 receptor α deficiency. Therefore, we performed whole-exome sequencing in children with SLE with lymphoproliferation to identify genes associated with these conditions. ⋯ The SLE is a novel phenotype of somatic mutations in the NRAS gene and germline mutations in the PI3CKD gene. These genes, NRAS, TNFAIP3, and PIK3CD, should be considered candidates for children with SLE with lymphoproliferation. If patients with SLE and lymphoproliferation present with renal and hematologic involvement and recurrent fever, they need gene testing, especially male patients.
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Comparative Study Observational Study
Clinical and imaging characteristics of hematologic disease complicated by air leak syndrome: A STROBE-compliment observational study.
There are limited systematic studies on hematologic disease complicated by air leak syndrome (ALS). Physicians in radiology departments and hematology departments have a limited awareness of ALS. The aim of this study was to explore the similarities and differences in clinical data between the clinical group and imaging group in patients with hematologic disease complicated by ALS. ⋯ ALS is a high risk in male patients who have a low BMI, have leukemia as a basic disease, and have basic lung diseases (eg, BO/BOOP). CT types are mainly complex ALS, HPT, and pure PT. In addition, clinical symptoms for patients in the HPT group are severe, and there is a high prevalence of catheter drainage.
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C1q nephropathy is a rare glomerulopathy characterized by mesangial deposition of the complement component C1q. These deposits can be isolated or associated with immunoglobulins or complement fractions, which are observed by immunofluorescence or immunohistochemical microscopy. In ultramicroscopy, dense mesangial deposits and alterations of the podocyte are observed. ⋯ In light microscopy, it is expressed with a morphological pattern of minimal change disease (MCD), mesangial proliferative glomerulonephritis or focal segmental glomerulosclerosis (FSGS). The NS during its evolution usually evolve in steroid resistance or steroid dependency, often requiring the association of immunosuppressants to obtain remission. We report a 14 years old male with a history of NS and its evolution under various treatments during a 12-year follow-up.
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Review Meta Analysis
Anti-interleukin-6 therapies for Covid-19: A systematic review, critical appraisal and meta-analysis.
. Coronavirus disease 2019 (Covid-19) has emerged as a pandemic by end-January 2020. Of the infected patients, 10%-15% may develop severe or critical illness. So far, no definite treatment is available for Covid-19. Cytokine release syndrome may underlie the pathogenesis of severe and critical disease. Anti-interleukin (IL)-6 therapies are being tried to improve clinical outcomes. ⋯ . Although promising, anti-IL-6 therapy for Covid-19 needs to be tested in randomized controlled trials to provide robust evidence.