Sarcopenia and Vitamin D Deficiency in Patients with Crohn's Disease: Pathological Conditions That Should Be Linked Together.

Sarcopenia is a prevalent condition in patients with Crohn's disease (CD), representing an independent predictor factor for the development of major postoperative complications. Thus, a proper assessment of the muscle strength, by using different validated tools, should be deemed an important step of the clinical management of these patients. Patients with CD are frequently malnourished, presenting a high prevalence of different macro- and micro-nutrient deficiencies, including that of vitamin D.

Lung Ultrasound (LUS) in COVID-19 Pneumonia: Usefulness in Two Atypical Cases.

Unlabelled: Clinical experience and scientific articles have shown that patients infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) can be paucisymptomatic or asymptomatic at the time of diagnosis. In this paper, we will discuss two paucisymptomatic patients with blood tests suggestive for SARS-CoV-2 infection but with repeated negative nasopharyngeal swabs and without typical features of COVID-19 pneumonia on chest high-resolution computed tomography. In these cases, lung ultrasound helped to raise clinical suspicion of COVID-19 pneumonia and facilitate diagnosis.

Epileptic encephalopathy with microcephaly in a patient with asparagine synthetase deficiency: a video-EEG report.

Asparagine synthetase deficiency is a rare autosomal recessive neurometabolic disorder caused by mutations in the asparagine synthetase gene. It is characterized by congenital microcephaly, intellectual disability, progressive cerebral atrophy, and intractable seizures. A decrease in asparagine in CSF or plasma guides subsequent investigations in some cases, but normal values are described in other cases.

Acute psychosis in an adolescent with undiagnosed homocystinuria.

Unlabelled: Homocystinuria due to cystathionine-β-synthase deficiency (CBS deficiency) usually presents with ectopia lentis, myopia, intellectual disability, skeletal anomalies resembling Marfan syndrome, and thromboembolic events. Whereas neurodevelopment impairments have been often described in untreated homocystinuria adult patients, acute psychosis has rarely been reported as a presenting symptom of the disease. Here, we describe a 17-year-old girl affected by CBS deficiency presenting acute onset of visual hallucinations, behavioral perseverance, psychomotor hyperactivity, and affective inappropriateness.