Management of female pelvic organ prolapse—Summary of the 2021 HAS guidelines

International audienceWhen a patient presents with symptoms suggestive of pelvic organ prolapse (POP), clinical evaluation should include an assessment of symptoms, their impact on daily life and rule out other pelvic pathologies. The prolapse should be described compartment by compartment, indicating the extent of the externalization for each. The diagnosis of POP is clinical. Additional exams may be requested to explore the symptoms associated or not explained by the observed prolapse. Pelvic floor muscle training and pessaries are non-surgical conservative treatment options recommended as first-line therapy for pelvic organ prolapse. They can be offered in combination and be associated with the management of modifiable risk factors for prolapse. If the conservative therapeutic options do not meet the patient's expectations, surgery should be proposed if the symptoms are disabling, related to pelvic organ prolapse, detected on clinical examination and significant (stage 2 or more of the POP-Q classification). Surgical routes for POP repair can be abdominal with mesh placement, or vaginal with autologous tissue. Laparoscopic sacrocolpopexy is recommended for cases of apical and anterior prolapse. Autologous vaginal surgery (including colpocleisis) is a recommended option for elderly and fragile patients. For cases of isolated rectocele, the posterior vaginal route with autologous tissue should be preferentially performed over the transanal route. The decision to place a mesh must be made in consultation with a multidisciplinary team. After the surgery, the patient should be reassessed by the surgeon, even in the absence of symptoms or complications, and in the long term by a primary care or specialist doctor

Whole-exome sequencing of a pedigree segregating asthma

<p>Abstract</p> <p>Background</p> <p>Despite the success of genome-wide association studies for asthma, few, if any, definitively causal variants have been identified and there is still a substantial portion of the heritability of the disease yet to be discovered. Some of this “missing heritability” may be accounted for by family-specific coding variants found to be segregating with asthma.</p> <p>Methods</p> <p>To identify family-specific variants segregating with asthma, we recruited one family from a previous study of asthma as reporting multiple asthmatic and non-asthmatic children. We performed whole-exome sequencing on all four children and both parents and identified coding variants segregating with asthma that were not found in other variant databases.</p> <p>Results</p> <p>Ten novel variants were identified that were found in the two affected offspring and affected mother, but absent in the unaffected father and two unaffected offspring. Of these ten, variants in three genes (<it>PDE4DIP</it>, <it>CBLB</it>, and <it>KALRN</it>) were deemed of particular interest based on their functional prediction scores and previously reported function or asthma association. We did not identify any common risk variants segregating with asthma, however, we did observe an increase in the number of novel, nonsynonymous variants in asthma candidate genes in the asthmatic children compared to the non-asthmatic children.</p> <p>Conclusions</p> <p>This is the first report applying exome sequencing to identify asthma susceptibility variants. Despite having sequenced only one family segregating asthma, we have identified several potentially functional variants in interesting asthma candidate genes. This will provide the basis for future work in which more families will be sequenced to identify variants across families that cluster within genes.</p