Ricerc@Sapienza

Severe Acute Respiratory Syndrome – Coronavirus – 2 (SARS-CoV-2) and its related Coronavirus Disease – 19 (COVID-19) has become a health emergency worldwide. The medical community has been concerned since the beginning of the outbreak about the potential impact of COVID-19 in children, especially in those with underlying chronic diseases. Fortunately, COVID-19 has been reported to be less severe in children than in adults. However, epidemiologic and clinical data are scarce.

Background: Bronchiolitis is the most common acute viral infection of the lower respiratory tract in infants. Clinical severity is associated with different risk factors; however, no clinical, laboratory, or radiological findings are able to predict the course of the disease in full-term infants. Lung ultrasound (LUS) is a valid technique for the diagnosis and evaluation of pediatric respiratory diseases.

Despite the fact that child maltreatment is a global problem with serious life‐long physical and psychological or psychiatric outcomes, it is often difficult to detect. In the area of physical abuse, fractures are common in 12% to 20% of the cases, particularly in the youngest children in the first year of life.1, 2 Diagnostic imaging is an essential part of the investigation of suspected physical abuse.

A multidisciplinary approach is needed for the management of pregnancy related issues in women affected by Multiple Sclerosis, however little attention has been devoted to the modality of delivery. Here we aimed to investigate whether the diagnosis of multiple sclerosis (MS) influences delivery modality in MS patients. Patients who received the diagnosis before pregnancy showed a lower frequency of natural delivery and a higher frequency of both planned and urgency caesarean sections. Gestational weeks and birth weight were lower in MS patients when compared with healthy subjects.

Several morphological phenotypes have been associated to RYR1-recessive myopathies. We recharacterized the RYR1-recessive morphological spectrum by a large monocentric study performed on 54 muscle biopsies from a large cohort of 48 genetically confirmed patients, using histoenzymology, immunohistochemistry, and ultrastructural studies. We also analysed the level of RyR1 expression in patients' muscle biopsies.

Anderson-Fabry disease (FD) is a rare, progressive, multisystem storage disorder caused by the partial or total deficit of the lysosomal enzyme α-galactosidase A (α-Gal A). It is an X-linked, lysosomal enzymopathy due to mutations in the galactosidase alpha gene (GLA), encoding the α-Gal A. To date, more than 900 mutations in this gene have been described. In our laboratories, the study of genetic and enzymatic alterations related to FD was performed in about 17,000 subjects with a symptomatology referable to this disorder.

Background: Lymphedema is an abnormal accumulation of interstitial fluid within the tissues. Primary lymphedema is caused by aberrant lymphangiogenesis and it has been historically classified based on age at presentation. Although most cases are sporadic, primary lymphedema may be familial or present in association with chromosomal abnormalities and syndromic disorders. To the best of our knowledge, primary lymphedema has never been described in patients with 22q11.2 deletion syndrome.

Primary hemophagocytic lymphohistiocytosis is a rare syndrome characterized by immune dysregulation and hyperinflammation. It typically manifests in infancy and is associated with high mortality.

To assess the best energy intake in Parenteral Nutrition (PN) for preterm newborns, considering both possible benefits for growth and risk of complications.