Acute liver failure in a male patient with NGLY1-congenital disorder of deglycosylation.

Congenital disorder of N-linked deglycosylation (CDDG, MIM 615273) is a very rare autosomal recessive disorder caused by pathogenic variants in the NGLY1 gene. Transient transaminitis is the typical hepatic dysfunction described in these patients, but also included neonatal jaundice, hepatomegaly, splenomegaly, and steatosis. Microscopically, intrahepatic cytoplasmic inclusions and fibrosis are seen.

Aspergillosis of the central nervous system in a previously healthy patient that simulated Creutzfeldt-Jakob disease.

Background: The presence of in the central nervous system (CNS) is rare in immunocompetent patients but not in immunocompromised patients who may have a more common infection. This article describes a case of an adult immunocompetent patient with a diagnosis of cerebral aspergillosis and with a clinical process of rapidly progressive dementia which simulated a Creutzfeldt-Jakob syndrome.

Case Description: A 34-year-old adult was previously healthy and had no medical history of any significance.

Pirfenidone gel in patients with localized scleroderma: a phase II study.

Introduction: Localized scleroderma is an inflammatory disease in its first stages and a fibrotic process in later stages, principally mediated by the transforming growth factor β. To date, there is no standard treatment. The objective of this study was to determine the effectiveness and safety of 8% pirfenidone gel in patients with localized scleroderma.

Rectal Plasmablastic Lymphoma in HIV/AIDS: Two Cases.

Plasmablastic lymphoma is an aggressive variant of large B-cells lymphoma in which the infection by Human Immunodeficiency Virus and Epstein-Barr herpesvirus are involved. This recently denominated neoplasia has a special tropism through the oral cavity. However, its presence has been reported in the digestive tract, abdominal cavity and retroperitoneum.

Noninvasive determination of burn depth in children by digital infrared thermal imaging.

Digital infrared thermal imaging is used to assess noninvasively the severity of burn wounds in 13 pediatric patients. A delta-T (ΔT) parameter obtained by subtracting the temperature of a healthy contralateral region from the temperature of the burn wound is compared with the burn depth measured histopathologically. Thermal imaging results show that superficial dermal burns (IIa) show increased temperature compared with their contralateral healthy region, while deep dermal burns (IIb) show a lower temperature than their contralateral healthy region.