Case report: Novel compound heterozygous mutations as the likely cause of a lethal form of deficiency of interleukin-1 receptor antagonist.

Undiagnosed monogenic diseases represent a challenging group of human conditions highly suspicious to have a genetic origin, but without conclusive evidences about it. We identified two brothers born prematurely from a non-consanguineous healthy couple, with a neonatal-onset, chronic disease characterized by severe skin and bone inflammatory manifestations and a fatal outcome in infancy. We conducted DNA and mRNA analyses in the patients' healthy relatives to identify the genetic cause of the patients' disease.

Vision-threatening bilateral panuveitis and TRAPS in a child: an uncommon association.

Purpose: To report a childhood case of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) carrying the R92Q variant with a vision-threatening bilateral panuveitis.

Methods: Case report and review of the literature.

Results: A 7-year-old boy presented with an active bilateral panuveitis and a macular rash associated with fever.

[Compliance with the PECARN and AEP guidelines in diagnostic approach of mild head trauma in patients younger than 24 months old].

Introduction: Mild head trauma is a frequent complaint in Pediatric Emergency Departments. Several guidelines have been published in the last few years. However, significant variability can be appreciated in terms of the demand for image tests.

[Subacute intestinal obstruction caused by giant bladder diverticulum].

A case of a patient affected with intestinal obstruction of 4 days of evolution is presented. The diagnosis of giant bladder diverticulum due to Benign Prostatic Hypertrophy was made by abdominal ultrasound at Emergency Room, and afterwards was confirmed by cystography. A trabeculated wall and a diverticulum at the posterior side was seen with the cystography.

[Pubo-vaginal percutaneous suspension by the Gittes technique for stress incontinence. Initial experience].

The paper presents our initial experience with endoscopic suspension of the vesical neck, as per the modification introduced by Gittes and based on incorporation through the vaginal mucosa of non-absorbable single-filament sutures. In this way it is feasible to use a simple non-incisive vaginal surgery with minimum morbidity. Good results have been obtained so far in six of the seven patients operated on.