Instituto de Medicina Integral Professor Fernando Figueira

Severe skeletal fragility in SCN8A ‐related developmental and epileptic encephalopathy

Abstract In this child with a phenotype compatible with the SCN8A gain‐of‐function spectrum, more than 20 bone fractures were documented. Together with previously reported cases, these observations raise the possibility that skeletal fragility may represent an underrecognized fea...

Upregulation of cellular exhaustion-related genes and CD4 + T cell disturbances in immunological non-responders on antiretroviral therapy

Abstract Antiretroviral therapy suppresses HIV replication, but 10–40% of people living with HIV do not reconstitute CD4 + T cell counts despite viral suppression. Cellular exhaustion and alteration in the frequency of CD4 + T cell subsets are mechanisms involved in immunological...

Adjunctive mild controlled hypothermia for moderate necrotizing enterocolitis in very low birth weight infants: a prospective cohort study with external contemporaneous controls

Abstract Necrotizing enterocolitis (NEC) is a severe condition in preterm infants. Few therapies are available to slow disease progression or reduce the need for surgery. This study aims to assess if mild controlled hypothermia as an adjunctive treatment reduces surgical interven...

Successful Combined Therapy for Post-Orgasmic Illness Syndrome: A Case Report.

Post-Orgasmic Illness Syndrome (POIS) is a rare con-dition characterized by flu-like symptoms after ejacula-tion, lasting several days and impairing quality of life. A 62-year-old man developed POIS after percutaneous ep-ididymal sperm aspiration, with symptoms lasting seven days...

Ultraviolet index levels in Recife, Brazil: an ecological study to identify low-erythemal-risk sunlight exposure windows for infants

OBJECTIVE: Current pediatric guidelines recommend avoiding direct sun exposure for infants under six months. However, these recommendations may offset other potential benefits of sunlight exposure. The authors aimed to examine the Ultraviolet Index (UVI) levels in Recife, Brazil,...