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Objective: To describe the clinical characteristics, treatment, and outcomes of a multinational cohort of patients with macrophage activation syndrome (MAS) and thrombotic microangiopathy (TMA).Study Design: International pediatric rheumatologists were asked to collect retrospectively the data of patients with the co-occurrence of MAS and TMA. Clinical and laboratory features of patients with systemic juvenile idiopathic arthritis (sJIA)-associated MAS and TMA were compared with those of an historical cohort of patients with sJIA and MAS.Results: Twenty-three patients with MAS and TMA were enrolled: 17 had sJIA, 2 systemic lupus erythematosus, 1 juvenile dermatomyositis, 1 mixed connective tissue disease, and 2 undifferentiated connective tissue disease. Compared with the historical cohort of MAS, patients with sJIA with coexistent MAS and TMA had higher frequencies of renal failure and neurologic involvement, hemorrhage, jaundice, and respiratory symptoms, as well as more severe anemia and thrombocytopenia, higher levels of alanine aminotransferase, lactate dehydrogenase, bilirubin and D-dimer, and lower levels of albumin and fibrinogen. They also required admission to the intensive care unit more frequently. Among patients tested, complement abnormalities and reduced ADAMTS13 activity were observed in 64.3% and 44.4% of cases, respectively. All patients received glucocorticoids. Treatment for TMA included plasma-exchange, eculizumab, and rituximab.Conclusions: The possible coexistence of MAS and TMA in rheumatic diseases may be underrecognized. This association should be considered in patients with MAS who develop disproportionate anemia, thrombocytopenia, and lactate dehydrogenase increase, or have multiorgan failure. [ABSTRACT FROM AUTHOR]

Abstract: Mitochondrial protein phosphorylation is emerging as a central event in mitochondrial signaling. In particular, tyrosine phosphorylation is proving to be an unappreciated mechanism involved in regulation of mitochondrial functions. Tyrosine kinases and phosphatases have been identified in mitochondrial compartments and there is a steadily increasing number of new identified tyrosine‐phosphorylated proteins implicated in a wide spectrum of mitochondrial functions. The deciphering of the tyrosine phoshorylation signaling in mitochondria is strictly linked to the definition of the entire mitochondrial tyrosine phosphoproteome. This chapter describes methods to analyze tyrosine phosphorylation in brain mitochondria: identification of new substrates by biochemical and mass spectrometry approaches and bioinformatic tools to analyze the potential effect of tyrosine phosphorylation on the structure/activity of a protein. [Copyright &y& Elsevier]

The article describes the case of an 80-year old woman with severe Alzheimer's disease who was infected with COVID-19 and was treated with oxygen supplementation, parenteral nutrition, low-dose heparin and corticosteroids.

Objective: Studies that mostly were conducted before the widespread use of combination antiretroviral treatments have reported that antenatal invasive procedures markedly increase the risk of human immunodeficiency virus vertical transmission. We aimed to evaluate the vertical transmission rate and other maternal and neonatal complications among women who were infected with human immunodeficiency virus who underwent antenatal invasive procedures during the second trimester of pregnancy and who were delivered after the advent of antiretroviral regimens. Study design: We conducted a multicenter case series of women who were infected with human immunodeficiency virus who underwent amniocentesis or chorionic villus sampling or cordocentesis during the second trimester of pregnancy and who were delivered after January 1, 1997. Results: Sixty-three of 775 recruited women (8.1%) had performed early invasive diagnostic techniques. This rate has improved progressively from 4% in 1997 to 14%. Two of 60 viable infants (3.3%; 95% CI, 0.6%-10.1%) were infected with the human immunodeficiency virus. This rate did not differ significantly from the transmission rate that was observed in women who did not undergo antenatal invasive techniques (1.7%; P = .30). Conclusion: The current risk of human immunodeficiency virus vertical transmission that is associated with early invasive diagnostic techniques is lower than previously reported. [ABSTRACT FROM AUTHOR]

Objectives: To evaluate the role of histology in diagnosis and management of biologically benign heart tumors causing life-threatening symptoms and even death in children and fetuses. The clinical impact of a multidisciplinary approach including 2-D echocardiography, histology, genetics, and cardiac surgery has not yet been fully elucidated. Study design: Forty-one consecutive antenatal (n = 17) or postnatal (n = 24) detected cardiac masses were evaluated by 2-D echocardiography (in alive patients) or at autopsy, and 12/41 cases with definite histologic diagnosis of primary and benign cardiac tumor were entered in this study. Results: Rhabdomyomas (n = 6), hemangiomas (n = 3), central fibrous body chondroma (n = 1), fibroma (n = 1), or left atrial myxoma (n = 1) were histologically diagnosed in 4 fetuses and in 8 children. Death occurred in 6 patients showing diffuse or infiltrative tumors, 2/6 experiencing intrauterine death or sudden and unexpected infant death. Seven patients underwent surgery, 4/7 are alive and well at >5 years follow-up, whereas 3 deaths followed partial tumor resection. Two fetuses with extensive tumor/s were aborted. Tuberous sclerosis complex gene mutations were seen in patients with rhabdomyomas. Conclusions: Histology represents the best diagnostic approach in life-threatening pediatric cardiac tumors allowing definite diagnosis in cases other than rhabdomyoma and in sudden deaths, influencing clinical management and counselling. 2-D echocardiography remains the main tool for early clinical diagnosis and follow-up. A multidisciplinary approach is advisable because of rarity, difficult management, and possible associations with inheritable diseases. [ABSTRACT FROM AUTHOR]