Changes in the gut microbiota of pseudoxanthoma elasticum patients.

OBJECTIVE: Pseudoxanthoma elasticum (PXE) is a rare autosomal disorder with a variable phenotype that may be modulated by environmental factors. Plasma vitamin K (VK) levels may be involved in the ectopic calcification process observed in PXE. Since VK2 is predominantly produced by the gut microbiota, we hypothesized that changes in the gut microbiota of PXE patients might exacerbate the calcification process and disease symptoms. METHODS: Twenty PXE patients were included in the study and 60 gut microbiota profiles from the Biofortis laboratory database were used as controls. RESULTS: The Rhodospirillaceae family was more abundant in the PXE group while the Sphingomonadaceae family was more abundant in the control group. In a PXE severity subgroup analysis, microbiota dispersion was lower in "severe" than in "non-severe" patients, which was confirmed by permutation multivariate analysis of variance at the phylum, family and genus ranks. However, no significant association was found in a model incorporating relative abundance of bacterial families, severity score, and different blood and fecal VK species. CONCLUSION: These results suggest slight compositional changes in the gut microbiota of PXE patients. Further studies are needed to substantiate their impact on VK metabolism and the calcification process.

Healthcare transition from childhood to adulthood in pseudoxanthoma elasticum: Patient experience and recommendations for health practitioners.

PURPOSE: Health-care transition (HCT) is a necessary part of the care process for allsick adolescents, to allow their empowerment while limiting disruption to follow-up care. Pseudoxanthoma elasticum (PXE) runs the risk of losing patients to follow-up because young patients are predominantly asymptomatic. This can be detrimental as it can prevent primary prevention measures from being properly implemented. The purpose of this study was to assess satisfaction of PXE patients with their health-care transition and to identify the factors associated with its success, in order to improve care management in young PXE patients. METHODS: Patients aged 22 to 40 years diagnosed with PXE before the age of 16 years were included from the cohort of patients followed at Angers University Hospital. They were sent a questionnaire for the purposes of collecting data on medical management during adolescence, transition and adulthood. RESULTS: Eleven responses were obtained from the 21 patients surveyed. The median satisfaction score of PXE patients regarding their transition was 5/10. Three patients reported having discontinued follow-up after transition. In adulthood, the majority of the participants were followed up by 4 specialists as recommended. It was incumbent on 50% of the patients who changed doctors to provide details of their own medical history to the new practitioner. CONCLUSION: Better intra-practitioner communication and a chart summarizing the principles of primary prevention, optimal follow-up care and its frequency are simple to implement and in all likelihood result in better health-care transition for young PXE patients.

[Use of simulation in healthcare for therapeutic training of the parents of children with hereditary angioedema]. / Utilisation de la simulation en santé pour l'éducation thérapeutique des parents d'enfants souffrant d'un angio-œdème héréditaire.

BACKGROUND: C1INH-deficiency hereditary angioedema (HAE) is characterized by recurrent episodes of potentially severe oedema. Icatibant for SC injection will soon be approved for use in children and it is necessary to train parents in recognising severe episodes of AOH and in the technique for injection of icatibant. Simulation in healthcare (SH) is a set of educational methods for improving skills in a safe environment. We wished to assess the feasibility of a therapeutic training session (TTS) involving scripted scenarios for the parents of children with HAE. PATIENTS AND METHODS: The TTS session included pre- and post-training testing on AOH, two scenarios (calling emergency services for lingual AO; gastrointestinal AO) involving actors and a volunteer parent, a workshop for learning the SC injection technique, and a satisfaction questionnaire. We analysed the answers on the questionnaire and noted down parents' verbatim observations during debriefing sessions. RESULTS: Eight parents from 5 families took part in this session. Parents rated their overall satisfaction as 9.3/10. The parents commented that during the simulations, they felt "in the thick of it" and that they "experienced stress while viewing the scenes", thus attesting to the realism and relevance of the simulated scenarios. DISCUSSION: This session met the parents' expectations in terms of being able to cope and having adequate know-how, based on both the simulations and the level of knowledge acquired. The main limitation lay in the parents' difficulty in confronting certain situations reminiscent of traumatic past experiences. TTS shares many common features with SH for the parents of sick children. The place of the latter in TTS must be evaluated.

Salpingectomy for repeated embryo nonimplantation after in vitro fertilization in patients with severe tubal factor infertility.

PURPOSE: To evaluate the impact of salpingectomy on the rates of embryo implantation and pregnancy in patients with severe, irreversible tubal factor sterility. METHODS: A retrospective study of patients with repeated failure of in vitro fertilization due to nonimplantation of the embryo. Seventy-two patients with severe and irreversible tubal factor sterility were selected following repeated failure of in vitro fertilization (IVF) due to assumed nonimplantation of the embryo: 35 underwent a salpingectomy before continuing IVF cycles and 37 continued IVF cycles without salpingectomy. RESULTS: After the first IVF cycle consecutive to diagnosis of embryo nonimplantation, the implantation rate was 10.2% in the salpingectomy group and 6.1% in the group without the procedure (P = 0.5). After all IVF cycles, the rate was, respectively, 6.9% and 4.5% (P = 0.2). Salpingectomy improved the pregnancy rate (PR) per transfer (23.5% vs. 9.9%; P = 0.01). The curves of the cumulative probability of becoming pregnant show that salpingectomy resulted in pregnancy more rapidly. CONCLUSIONS: Salpingectomy improves the PR per transfer in patients with severe and irreversible tubal factor sterility who have experienced repeated failure of IVF due to embryo nonimplantation. This procedure also reduces the number of IVF attempts needed to obtain pregnancy.