COVID-19 Presenting as Lupus Erythematosus-Like Syndrome.

The 2019 coronavirus disease (COVID-19) infection had newly emerged with predominant respiratory complications. Other extrapulmonary features had been recently described. Here, we describe a COVID-19 patient presenting with multiorgan involvement mimicking systemic lupus erythematosus. He was successfully treated with glucocorticoids and tocilizumab.

SMALED2 with BICD2 gene mutations: Report of two cases and portrayal of a classical phenotype.

The spinal muscular atrophies (SMA) affect lower motor neurons leading to important muscle atrophy and paralysis. Some cases of SMA affect mostly the lower limbs and are called autosomal dominant spinal muscular atrophy, lower extremity predominant (SMALED). So far, two genes have been identified to cause this phenotype, DYNC1H1 (SMALED1) and BICD2 (SMALED2). This pathology is rare, but patients exhibit classical features which should be recognised by physicians. We present two unrelated cases of SMALED2 with previously described c.320C>T BICD2 mutations. Our cases exhibit non-progressive weakness and atrophy of the lower limbs associated with contractures and unique muscle MRI findings suggestive of classical SMALED2. We also performed an extensive review of the literature to present the classical and atypical phenotypes of BICD2. Indeed, some features appear to be highly suggestive of the disease, including upper limb sparing, sparing of the adductors muscles on physical examination and MRI, congenital contractures and normal nerve conductions studies.

Systemic glucocorticoid therapy: risk factors for reported adverse events and beliefs about the drug. A cross-sectional online survey of 820 patients.

Despite systemic glucocorticoids are widely used, risk factors for most of their adverse events and patients' beliefs about the drug are poorly known. An online survey was conducted between February and July 2013 through the website www.cortisone-info.fr . Demographic (e.g., age, gender) and therapeutic (e.g., type of prescribed glucocorticoid, duration of prescription) data were collected. Patients were further asked to answer questions about glucocorticoid-induced adverse events and their beliefs about efficacy and safety of the drug. Risk factors for adverse events and efficacy/safety beliefs were assessed using multivariate logistic regression models. Eight hundred twenty questionnaires were analyzed (women 74.3 %; median age 49 [34-62] years, median equivalent prednisone dosage 20 [10-48] mg/day). The most frequently reported adverse events were insomnia (n = 477, 58.2 %), mood disturbances (n = 411, 50.1 %), hyperphagia (n = 402, 49.0 %), and lipodystrophy (n = 387, 47.2 %). The risk of some adverse events (e.g., weight gain, easy bruising) increased with the duration of exposure while other adverse events (e.g., insomnia, mood disorders, epigastric pain) were present since the first days of exposure. The risk of hirsutism, altered wound healing, mood disturbances, weight gain, lipodystrophy, hyperphagia, and epigastric pain decreased with age. Cutaneous disorders, morphological changes, and epigastric pain were more frequently reported by women. Interestingly, patients prescribed prednisolone reported less adverse events than those prescribed prednisone. No adverse event, demographical or prescribing characteristics were associated with beliefs about efficacy while factors associated with safety concerns were age (OR: 1.2 [1.1-1.3] per 10-year increase), osteoporosis (OR: 3.3 [1.4-7.9]), easy bruising (OR: 1.6 [1.1-2.3]), insomnia (OR: 1.7 [1.2-2.4]), and weight gain (OR: 1.6 [1.1-2.2]). These results may help clinicians to adapt information speech, therapeutic education, and clinical and laboratory monitoring of patients prescribed glucocorticoid therapy.