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J Nerv Ment Dis 2021 Apr 15. Epub 2021 Apr 15.

Department of Psychiatry, MC A011-04, University of Colorado School of Medicine, Aurora, Colorado.

Background: Patients with psychiatric disorders (as well as general medical conditions) often describe their lives in terms of suffering. Although suffering is honored as a central focus of physicians' concerns, it is not even indexed in the Diagnostic and Statistical Manual of Mental Disorders, 5th Edition. Generally connoting severe, prolonged distress, suffering can be distinguished from pain, depression, and anxiety. Read More

J Mycol Med 2021 Apr 2;31(2):101125. Epub 2021 Apr 2.

Division of Infectious Diseases, Department of Medicine, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell Health, 400 Community Drive, Infectious Diseases Suite, 11030 Manhasset, NY, USA. Electronic address:

Mucormycosis is an invasive fungal infection (IFI) due to several species of saprophytic fungi, occurring in patients with underlying co-morbidities (including organ transplantation). During the ongoing Coronavirus disease 2019 (COVID-19) pandemic, there have been increasing reports of bacterial and fungal co-infections occurring in COVID-19 patients, including COVID-19 associated pulmonary aspergillosis (CAPA). We describe a case of mucormycosis occurring after COVID-19, in an individual who received a recent heart transplant for severe heart failure. Read More

Clin Chim Acta 2021 Apr 12. Epub 2021 Apr 12.

Normandie Univ, UNIROUEN, INSERM U1245, CHU Rouen, Department of Metabolic Biochemistry, 76000 Rouen, France. Electronic address:

Background: Lysosomal acid lipase deficiency (LALD, OMIM#278000) is a rare lysosomal disorder with an autosomal recessive inheritance. The main clinical manifestations are related to a progressive accumulation of cholesteryl esters, triglycerides or both within the lysosome in different organs such as the liver, spleen, and cardiovascular system. A wide range of clinical severity is associated with LALD including a severe very rare antenatal/neonatal/infantile phenotype named Wolman disease and a late-onset form named cholesteryl ester storage disease (CESD). Read More

Chest 2021 Apr 12. Epub 2021 Apr 12.

Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy; Infectious Diseases Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

Background: Few small studies have described hospital-acquired infections (HAIs) during COVID-19.

Research Question: What patient characteristics in critically ill patients with COVID-19 are associated with HAIs and how do HAIs associate with outcomes in these patients?

Study Design And Methods: Multicenter retrospective analysis of prospectively collected data including adult patients with severe COVID-19, admitted to 8 Italian hub hospitals from February 20, 2020, to May 20, 2020. Descriptive statistics, univariable and multivariable Weibull regression models were used to assess incidence, microbial etiology, resistance patterns, risk factors (i. Read More

Hum Mutat 2021 Apr 15. Epub 2021 Apr 15.

UMR1253, iBrain, University of Tours, Inserm, Tours, France.

The X-linked PTCHD1 gene, encoding a synaptic membrane protein, has been involved in neurodevelopmental disorders with the description of deleterious genomic microdeletions or truncating coding mutations. Missense variants were also identified, however without any functional evidence supporting their pathogenicity level. We investigated 13 missense variants of PTCHD1, including eight previously described (c. Read More