Pathogenetic role ofHelicobacter pylori in duodenal ulcer disease

The pathogenesis of duodenal ulcer disease is multifactorial and the contribution ofHelicobacter pylori in relation to the other factors to the release of duodenal ulcer is unknown. To investigate this, we studied 147 patients with endoscopically proven healed ulcers. These patients were randomized to receive either placebo, misoprostol 200 g or misoprostol 300 g four times daily, and clinical, personal, physiological and endoscopic characteristics were obtained prospectively. Endoscopy was performed at the active phase of the ulcer and when the ulcer healed. Biopsies were taken from the antrum to assess histologically for: (1) the activity of gastritis as assessed by the degree of polymorph infiltration, (2) the degree of chronic inflammation by the degree of chronic inflammatory cells infiltration and degree of mucosal degeneration, and (3) bacteriologically for the presence ofH. pylori. The severity of the gastritis and the bacterial density were graded independently by two pathologists. The patients were assessed at two-month intervals for 12 months or until the ulcer relapsed. The results demonstrated that the relapse rates of duodenal ulcer were similar in the three treatment groups. The relapse rate was higher in the group with higher density of the bacteria (P<0.05). The degree of gastritis did not affect the relapse rate of duodenal ulcer in either the placebo or misoprostol group or in all patients combined. Stepwise logistic regression analysis identified that increased duodenal inflammation, male sex, early-onset disease, andH. pylori adversely affected relapse of the ulcer. We conclude that multiple factors affect the relapse of duodenal ulcer andH. pylori is one of them.     

Familial progressive vestibulocochlear dysfunction caused by a COCH mutation (DFNA9)

OBJECTIVE: To describe the decline of vestibulocochlear function in a man with vestibulocochlear dysfunction caused by a Pro51Ser mutation within the COCH gene on chromosome 14q12-13 (DFNA9). METHODS: A follow-up of more than 15 years was performed in a single case. Clinical investigations were supplemented by oculomotor, vestibular, and auditory tests. RESULTS: A 50-year-old man had had progressive sensorineural hearing loss and dysequilibrium for 15 years; he had been asymptomatic at the age of 35 years. He suffered from instability in the dark, head movement-dependent oscillopsia, paroxysmal positional vertigo, and vertigo with and without nausea. Hearing impairment started unilaterally, predominantly in the high frequencies. He also reported tinnitus. Disease progressed to severe bilateral high-frequency hearing impairment and vestibular areflexia. Fluctuation of vestibulocochlear function was documented and mentioned by the patient. CONCLUSIONS: Our patient proved to suffer from an autosomal dominant vestibulocochlear disorder caused by a COCH gene mutation. The remarkable medical history has some features in common with Meniere disease; however, there are also different clinical and neurophysiological features. In the family, phenotypic variability is present.     

Autosomal dominant polycystic kidney disease and coronary artery dissection or aneurysm: a systematic review

Importance Autosomal dominant polycystic kidney disease (ADPKD) has been associated with cardiovascular abnormalities such as intracranial and aortic aneurysms. Objective To systematically review the case reports and case series of ADPKD patients with coronary artery dissection or aneurysm. Evidence review Systematic review registration number: CRD42015015723. Data sources: MEDLINE, Web of Science and OpenGrey, reference lists of studies. Study selection: Published case reports and case series. Data extraction: Two parties analyzed the studies. Disagreements were solved by consensus or by a third party. Funding: none. Findings The reports of 23 patients (22 from 17 studies – six with coronary artery dissection and 16 with coronary artery aneurysm – and one with coronary dissection) were analyzed and reported here. Most patients were symptomatic. Coronary dissection showed female and left descending anterior artery predominance, features similar to non-ADPKD patients, but a median diagnostic age below expected (41 vs. 50 years old). Coronary aneurysms had male and right coronary artery predominance but lower median diagnostic age (44 years old) and higher rate of multiple vessel affection than reported for non-ADPKD patients. Conclusion and relevance Clinical disparities may suggest a different mechanism of aneurysm formation compared to the population without ADPKD. Nevertheless, lack of access to data of one patient and text of one article limited our conclusions. Coronary aneurysms and dissections represent a source of coronary syndromes and death in ADPKD. Mutation of ADPKD-related genes may predispose to coronary abnormalities, especially aneurysms. Further analysis regarding this association is necessary.     

Involving children and young people in clinical research through the forum of a European Young Persons’ Advisory Group: needs and challenges

Children and young people are seen as fundamental to the design and delivery of clinical research as active and reflective participants. In Europe, involvement of children and young people in clinical research is promoted extensively in order to engage young people in research as partners and to give them a voice to raise their own issues or opinions and for their involvement in planning and decision making in addition to learning research skills. Children and young people can be trained in clinical research through participation in young person advisory groups (YPAGs). Members of YPAGs assist other children and young people to learn about clinical research and share their experience and point of view with researchers, thereby possibly influencing all phases of research including the development and prioritization of research questions, design and methods, recruitment plans, and strategies for results dissemination. In the long term, the expansion of YPAGs in Europe will serve as a driving force for refining pediatric clinical research. It will help in a better definition of research projects according to the patients’ needs. Furthermore, direct engagement of children and young people in research will be favorable to both researchers and young people.