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Background: Due to a heterogeneity of symptoms, a lack of an adequate diagnostic test, and a lack of awareness, diagnostic delay in endometriosis in primary care on average amounts to 35 months. Aim: To determine which interventions are most feasible to reduce time to diagnosis in primary care, focusing on GPs' preferences, the intervention's content, design, and implementation. Design & setting: We conducted a qualitative study by performing focus groups with GPs and GP trainees between July and October 2021. Method: Data collection was continued until saturation was obtained. Focus groups were transcribed and openly encoded. Themes were formulated by three independent researchers. Results: Divided over five focus groups 22 GPs and 13 GP trainees participated. Three themes were formulated: increasing awareness, combined intervention, and reaching unaware GPs. Suggestions for a combined intervention strategy were adaptation of guidelines, a diagnostic support tool, and compulsory education. To reach unaware GPs, participants felt that education should be offered in regional networks and education for GP trainees should be mandatory. A guideline on menstrual symptoms should be considered and the term endometriosis should be added to the differential diagnosis paragraphs of existing guidelines. A diagnostic support tool should be linked to a guideline and consist of a flowchart with steps starting with the first presentation of symptoms leading to the diagnosis of endometriosis. Conclusion: According to GPs, a combined intervention strategy consisting of an adapted guideline, a diagnostic support tool, and education might be successful interventions in reducing diagnostic delay in endometriosis. [ABSTRACT FROM AUTHOR]

Objectives: Endometriosis is characterized by a long interval between onset of symptoms and diagnosis. Detailed information about the patients’ perspective on the diagnostic delay of endometriosis is scarce. The aim of this study was to identify strengths and weaknesses in the diagnostic process of endometriosis from the patients’ perspective. Methods: Qualitative study with semi-structured focus groups. Participants were women between 18 and 45 years old with a recently confirmed diagnosis. The focus groups were audio recorded and fully transcribed. Grounded theory methodology was applied for data analysis. Results: Six focus groups were organized, in which 23 women participated. Mean time from start of symptoms to diagnosis was 8.5 years. Dominant themes were knowledge about normal menstruation and endometriosis, being believed and acknowledged by medical staff, and collaboration between health care providers including fast referral to a gynaecologist. Barriers to a timely referral and diagnosis were young age, normalization of symptoms and a lack of awareness in general practitioners. Facilitating factors included adequate knowledge and skills of the general practitioner, a desire for pregnancy and persisting in a request for specialist consultation by the patient. Conclusions: The diagnostic process of endometriosis is hampered by delayed consultation, inadequate appraisal of symptoms by general practitioners and the interaction between patients and medical professionals. Efforts should be made to increase public awareness and to provide medical staff with sufficient knowledge and skills to adequately acknowledge presented symptoms. [ABSTRACT FROM AUTHOR]

Defects in the rat sarcoma viral oncogene homolog (Ras)/extracellular-signal-regulated kinase and the phosphatidylinositol 3-kinase-mammalian target of rapamycin (mTOR) signaling pathways are responsible for several neurodevelopmental disorders. These disorders are an important cause for intellectual disability; additional manifestations include autism spectrum disorder, seizures, and brain malformations. Changes in synaptic function are thought to underlie the neurological conditions associated with these syndromes. We therefore studied morphology and in vivo synaptic transmission of the calyx of Held synapse, a relay synapse in the medial nucleus of the trapezoid body (MNTB) of the auditory brainstem, in mouse models of tuberous sclerosis complex (TSC), Fragile X syndrome (FXS), Neurofibromatosis type 1 (NF1), and Costello syndrome. Calyces from both Tsc1+/- and from Fmr1 knock-out (KO) mice showed increased volume and surface area compared to wild-type (WT) controls. In addition, in Fmr1 KO animals a larger fraction of calyces showed complex morphology. In MNTB principal neurons of Nf1+/- mice the average delay between EPSPs and APs was slightly smaller compared to WT controls, which could indicate an increased excitability. Otherwise, no obvious changes in synaptic transmission, or short-term plasticity were observed during juxtacellular recordings in any of the four lines. Our results in these four mutants thus indicate that abnormalities of mTOR or Ras signaling do not necessarily result in changes in in vivo synaptic transmission. [ABSTRACT FROM AUTHOR]