Maternité Port Royal

[This corrects the article DOI: 10.3389/fped.2023.1198016.].

BackgroundPatients treated for rare ovarian germ cell tumors (GCT) and sex cord stromal tumors (SCST) often experience long-term survival. Treatments include surgery with or without chemotherapy (CT), which can cause late side effects that negatively impact quality of life (QoL). This study assessed long-term QoL among GCT and SCST survivors compared to age-matched healthy women (HW), focusing on patients treated with CT.MethodsCancer-free GCT and SCST survivors (≥ 2 years post-treatment) were recruited from the INCa French Network TMRG. HW were recruited via the “Seintinelles” platform. Participants completed validated questionnaires assessing QoL (FACT-G/FACT-O), fatigue (MFI), anxiety/depression (HADS), insomnia (ISI), neurotoxicity (FACT/GOG-NTX), cognition (FACT-COG), and sexuality (FACT-O OCS). Clinically relevant differences were defined as ≥ 5% between groups.ResultsA total of 144 survivors (99 GCT and 45 SCST) were included and compared with 284 matched HW (median age: 35.2 years). The median time from the end of treatment was 6 years [Q1 3.5–Q3 9.3]. At inclusion, 42% of patients were menopausal compared to 17% of HW (p < 0.001), with reduced sexual QoL. Survivors reported more cognitive impairment (32% vs. 21%, p = 0.025) and severe neurotoxicity (23% vs. 8%, p < 0.001). QoL, fatigue, anxiety/depression, and insomnia scores were similar for patients and HW.ConclusionsWith a median of 6 years after CT, most GCT and SCST survivors reported similar overall QoL compared to HW but faced premature menopause, reduced sexual QoL, and persistent cognitive and neurotoxic effects.Trial registration numberNCT03418844.Supplementary InformationThe online version contains supplementary material available at 10.1186/s12916-025-04540-x.

Recurrent isolated angioedema (AE) is a diagnostic and therapeutic challenge. Only a rigorous clinical approach can rule out the most obvious diagnoses. The recent international classification recognizes 7 subgroups: mast cells induced AE (spontaneous, allergic), Bradykinin mediated AE (Hereditary or acquired C1Inh; kallikrein-kinin mutations), HAE due to vascular endothelium dysfunction, drug induced AE and AE of unknow origin. Bradykinin-mediated hereditary angioedema (BK-HAE) are rare conditions. The currently accepted incidence of HAE-C1INH is approximately 1 in 50,000 inhabitants per year. Bradykinin is released following activation of the kallikrein/kinin pathway in the vascular lumen and is rapidly degraded by kininases, the main one being angiotensin-converting enzyme. The disease manifests as subcutaneous or submucosal edema. When an attack occurs in the pharynx/larynx area, there is a high risk of asphyxia (25% in the absence of specific treatment). This risk is unpredictable and exists throughout the patient's life. AE can be localized in the abdomen and resemble a surgical emergency. The disease is more symptomatic in women, as estrogen is an aggravating factor. In AE due to C1INH deficiency, the diagnosis is based on the search for a weight and/or functional deficiency in C1 inhibitor. In the forms with normal C1 inhibitor, the diagnosis is solely genetic, such as F12, PLG, or KNG1 mutations. The prognosis for these rare diseases has changed considerably in recent years with the arrival of new, highly effective specific drugs. Patient education is an important part of management. We present here the French protocol for the diagnosis and management of bradykinin-mediated hereditary AE.