Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition.

BACKGROUND: Neonatal-onset multisystem inflammatory disease is characterized by fever, urticarial rash, aseptic meningitis, deforming arthropathy, hearing loss, and mental retardation. Many patients have mutations in the cold-induced autoinflammatory syndrome 1 (CIAS1) gene, encoding cryopyrin, a protein that regulates inflammation. METHODS: We selected 18 patients with neonatal-onset multisystem inflammatory disease (12 with identifiable CIAS1 mutations) to receive anakinra, an interleukin-1-receptor antagonist (1 to 2 mg per kilogram of body weight per day subcutaneously). In 11 patients, anakinra was withdrawn at three months until a flare occurred. The primary end points included changes in scores in a daily diary of symptoms, serum levels of amyloid A and C-reactive protein, and the erythrocyte sedimentation rate from baseline to month 3 and from month 3 until a disease flare. RESULTS: All 18 patients had a rapid response to anakinra, with disappearance of rash. Diary scores improved (P<0.001) and serum amyloid A (from a median of 174 mg to 8 mg per liter), C-reactive protein (from a median of 5.29 mg to 0.34 mg per deciliter), and the erythrocyte sedimentation rate decreased at month 3 (all P<0.001), and remained low at month 6. Magnetic resonance imaging showed improvement in cochlear and leptomeningeal lesions as compared with baseline. Withdrawal of anakinra uniformly resulted in relapse within days; retreatment led to rapid improvement. There were no drug-related serious adverse events. CONCLUSIONS: Daily injections of anakinra markedly improved clinical and laboratory manifestations in patients with neonatal-onset multisystem inflammatory disease, with or without CIAS1 mutations. (ClinicalTrials.gov number, NCT00069329 [ClinicalTrials.gov].).

Long-term follow-up of transjugular intrahepatic portosystemic shunt (TIPS) with stent-graft.

PURPOSE: We aimed to retrospectively evaluate the long-term clinical and patency results after the placement of transjugular intrahepatic portosystemic shunts (TIPS) using stent-graft. Many studies show the clinical results and the patency follow-up of TIPS with stent-graft in the short and medium term. However, few studies show long-term results. METHODS: Between 2002 and 2016, TIPS with stent-grafts were placed in 132 patients. The median age was 59.5 years. The median Model for End-stage Liver Disease (MELD) score was 13, and 71% were Child-Pugh B. Indications for TIPS were bleeding (83%) and ascites or hydrothorax (17%). The technical and clinical success rates were calculated, as were the rates of patency, survival and complications. The median follow-up period was 43 months. RESULTS: The technical success rate was 98%, and the clinical success rates were 85% in patients with indication for bleeding and 95% in patients with indication for ascites or hydrothorax. Primary patency did not decrease from 66% after 6 years (95% confidence interval [CI], 56.2%-75.8%) primary assisted patency remained stable at 87% after 6 years (95% CI, 77.2%-96.8%) and secondary patency did not decrease from 98% after 4 years (95% CI, 95.1%-100%). The median overall survival was 42.8 months (95% CI, 33.8-51.8 months). A total of 54 patients suffered some type of complication, minor (28 patients) or major (26 patients), during the follow-up. CONCLUSION: The clinical success rate was high. The choice of the maximum initial limit of portosystemic gradient and the diameter of the post-TIPS shunt, together with the number of shunt reductions, are important to be able to compare results between publications. In our study, the patency rates did not decrease after 6 years; hence, long-term follow-up of these patients may not be necessary.

[Ileal perforation secondary to intestinal endometriosis]. / Perforación ileal secundaria a endometriosis.

Endometriosis is defined as the presence of endometrial tissue outside the uterus. The bowel is not often affected. There are no specific clinical findings for intestinal endometriosis. It is typically asymptomatic, but sometimes can present with abdominal pain, diarrhoea, constipation or intestinal obstruction. Ileal perforation is a rare complication of intestinal endometriosis and only a few cases have been reported in the literature. Intestinal endometriosis can mimic many gastrointestinal diseases, such as irritable bowel syndrome, inflammatory bowel disease, infections and neoplasms. The diagnosis is made by laparoscopy or laparotomy. We present a case of a woman with intermittent abdominal pain and ileal perforation secondary to intestinal endometriosis.