Sepsis Definitions in Burns.

Sepsis is the leading cause of death in burns. Despite its importance, sepsis lacks a proper definition. An established definition will lead to early and accurate diagnosis, prompt treatment, and a reduced mortality rate.

Fatal respiratory disease due to a homozygous intronic ABCA3 mutation: a case report.

Background: Pulmonary surfactant is a complex mixture of lipids and proteins. Mutations in surfactant protein-C, surfactant protein-D, and adenosine triphosphate-binding cassette subfamily A member 3 have been related to surfactant dysfunction and neonatal respiratory failure in full-term babies. Adenosine triphosphate-binding cassette subfamily A member 3 facilitates the transfer of lipids to lamellar bodies.

[Delayed diagnosis of juvenile Huntington's diseases: case report].

Huntington's disease is a neurodegenerative disease that is clinically manifested as mood and personality changes, loss of cognitive functions and choreiform movements. The pattern of inheritance is autosomic dominant. It is due to the gradual expansion of a cytosine, adenine, guanine trinucleotide in a gene that codifies the protein Huntington.

Mosaic trisomy 13 and a sacral appendage.

Mosaic trisomy 13 occurs when there is a percentage of trisomic cells for an entire chromosome 13, while the remaining percentage of cells is euploid. The prevalence of this syndrome ranges from 1 in 10 000 to 1 in 20 000 births. Complete, partial or mosaic forms of this disorder can occur.

[Ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome, report of a case with variable expressivity].

The ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome is a rare entity associated with mutations in the genes that express the protein p63. We present a case of a patient with right foot ectrodactyly associated with cleft lip and palate, without other evident anomalies. The patient has a positive familiar history for cleft lift and palate and mortality during the perinatal period.

Traumatic atlantoaxial rotatory subluxation in an adolescent: a case report.

Introduction: Atlantoaxial rotatory subluxation is rarely caused by trauma in adults. Usually, the treatment of choice is traction using Halo/Gardner-Wells fixation devices for up to six weeks.

Case Presentation: We present the case of a 19-year-old Caucasian woman with traumatic atlantoaxial subluxation.