[Understanding the diagnostic delay in rare diseases]. / Zeldzame aandoeningen sneller diagnosticeren.

According to the European definition, rare diseases are life-threatening or chronically debilitating conditions that affect only 5 out of 10,000 people in the European Union. It is estimated that there are around 6000-8000 different rare diseases, affecting 6-8% of the population in the course of their lives. For the Netherlands, this means that about 1 million people are affected by a rare disease, or one in 17 people. Patients with rare diseases indicate that they often have a long and uncertain diagnostic journey behind them, while the first symptoms present in childhood in 75% of the rare diseases. In this perspective, we discuss some of the results from the research report 'Scherperzicht op diagnostischevertragingbijzeldzameaandoeningen' in which the diagnostic journey for patients with rare diseases is mapped out with figures. We also make recommendations to speed up the diagnostic process for patients with rare diseases.

[A teenage girl with non-infectious osteomyelitis]. / Een tiener met een niet-infectieuze osteomyelitis.

BACKGROUND: Osteomyelitis is usually caused by an infection. A non-infectious cause should be considered if antibiotic treatment is insufficiently effective and disease is recurrent, multifocal or migrating. CASE DESCRIPTION: A 14-year-old girl, an active volleyball player, developed episodes of fever and pain in her right lower leg. MRI showed osteomyelitis in her right tibia. She received prolonged intravenous antibiotic treatment. Shortly after recovery, she developed osteomyelitis in her left lower leg. After exclusion of infection and malignancy, we diagnosed chronic recurrent multifocal osteomyelitis (CRMO). The patient was successfully treated with a NSAID and a bisphosphonate. CONCLUSION: CRMO is an auto-inflammatory condition characterised by recurrent, non-infectious, multifocal or migrating osteomyelitis. Patients experience recurrent episodes of bone pain, sometimes accompanied by fever and slightly elevated infection parameters. The disease course usually is self-limiting, without residual damage. Symptomatic treatment with NSAIDs and bisphosphonates often leads to remission.

Minimal access surgery for repair of congenital diaphragmatic hernia: is it advantageous?--An open review.

INTRODUCTION: Congenital diaphragmatic hernia (CDH) is a congenital life-threatening condition requiring surgical repair in the neonatal period. Minimal access surgery (MAS) is gaining ground on the classical open approach by laparotomy or thoracotomy as it minimizes damage to the abdominal or thoracic wall. Using an open review of the literature, we aimed to determine whether MAS is safe and effective in treating CDH. Furthermore, we provide selection criteria for the optimal surgical approach, laid down in a decision algorithm. METHODS: An online search of MEDLINE was performed (May 2012), followed by a citations search. All study types except case reports describing open and/or MAS repair of Bochdalek CDH were eligible. Primary outcome data, for example, surgical complications and mortality, were recorded, as well as secondary outcome measures, for example, operative time, duration of postoperative ventilation, tolerance of enteral nutrition, and total length of stay (LOS) in hospital. Analysis was performed in accordance with the standards of the Cochrane Handbook for Systematic Reviews of Interventions. RESULTS: We identified 15 relevant studies, 5 of them describing MAS only and 10 comparing MAS to open repair of CDH. Numbers of included patients and selection criteria for MAS varied widely. Most studies have methodological limitations, such as the use of retrospective data or historical control groups. ECMO treatment and patch use were more frequent in the open repair group (both p < 0.0001). Recurrence risk seemed to be increased in the MAS group. The need for conversion in MAS series ranged widely, from 3.4 to 75.0%. The risk of general surgical complications did not vary between groups. Mortality seemed to be less in the MAS group. Operative time seemed to be longer in the MAS group. Duration of postoperative ventilation and total LOS appeared to be reduced in this group and patients returned quicker to enteral nutrition. CONCLUSIONS: We demonstrate that MAS for diaphragmatic hernia appears to be safe in terms of complications and mortality. Besides, it is associated with faster postoperative recovery. Growing experience with this technique is expected to lower the recurrence risk and to shorten the operative time. These findings should be interpreted cautiously because of methodological limitations of the studies included. Selection criteria used in various studies are associated with an important risk of selection bias. Nonetheless, these criteria can be used to identify patients who will benefit most from MAS.