Patients with extreme body mass indices (BMI) could have an increased risk of death while hospitalized for COVID-19. The database of the International Severe Acute Respiratory and Emerging Infection Consortium (ISARIC) was used to assess the time to in-hospital death with competing-risks regression by sex and between the categories of BMI. Data from 12,137 patients (age 60.0 ± 16.2 years, 59% males, BMI 29.4 ± 6.9 kg/m2) of 48 countries were available. By univariate analysis, underweight patients had a higher risk of mortality than the other patients (sub-hazard ratio (SHR) 1.75 [1.44–2.14]). Mortality was lower in normal (SHR 0.69 [0.58–0.85]), overweight (SHR 0.53 [0.43–0.65]) and obese (SHR 0.55 [0.44–0.67]) than in underweight patients. Multivariable analysis (adjusted for age, chronic pulmonary disease, malignant neoplasia, type 2 diabetes) confirmed that in-hospital mortality of underweight patients was higher than overweight patients (females: SHR 0.63 [0.45–0.88] and males: 0.69 [0.51–0.94]). Even though these findings do not imply changes in the medical care of hospitalized patients, they support the use of BMI category for the stratification of patients enrolled in interventional studies where mortality is recorded as an outcome.
Introduction: Late‐night salivary cortisol (LSaC) and 24‐h urinary free cortisol measurement, and overnight 1‐mg dexamethasone suppression test (1 mg‐DST) are the first‐line screening tests recommended for Cushing's syndrome. Through elevations in the level of cortisol‐binding globulin, oral contraceptive agents lead to increases in the total plasma cortisol concentration, yielding false‐positive 1 mg‐DST results.Objective: To compare the accuracy of the overnight 1‐mg DST and two‐day low‐dose DST (2d‐DST) in female volunteers taking combined oestrogen‐progestin oral contraceptives (COCs).Methods: This prospective study enrolled 30 healthy participants. Their plasma cortisol response levels were compared after the 1‐mg DST and 2d‐DST and classified into three categories: normal (≤50 nmol/L), doubtful (51–138 nmol/L) and abnormal (>138 nmol/L). Salivary cortisol was also measured at late night and after the DSTs.Results: Following the 1‐mg DST and 2d‐DST, the plasma cortisol concentrations decreased to a median of 69 nmol/L and 37 nmol/L, respectively (p < 0.001). A statistically significant higher proportion of unclear or abnormal results were observed after the 1‐mg DST (63%) than after the 2d‐DST (27%) (p = 0.004). None of the values were >138 nmol/L after the 2d‐DST, while 11% of them were abnormal after the 1‐mg DST (p = 0.25). No LSaC value was abnormal.Conclusion: Our results suggest that, when late‐night salivary cortisol is not available, the 2d‐DST could be a better screening option than the 1‐mg DST for women taking oral contraceptive agents who are reluctant to stop them. This finding requires confirmation in those with a suspicion of hypercortisolism.
Background: Several studies have suggested that breast cancer (BC) and germline BRCA pathogenic variants (gBRCA PVs) could have a deleterious impact on ovarian reserve. Nevertheless, data are limited and mixed. Our objective was to evaluate the performance of fertility preservation (FP) in terms of the number of collected mature oocytes after ovarian stimulation (OS) in young women carrying a gBRCA PV, associated or not with BC. Methods: We conducted a retrospective monocentric study at HUB-Hôpital Erasme in Brussels. All women aged between 18 and 41 years diagnosed with invasive non-metastatic BC and/or gBRCA PV carriers who underwent OS for FP or preimplantation genetic testing for monogenic disorder (PGT-M) between November 2012 and October 2021 were included. Three groups were compared: BC patients without a gBRCA PV, BC patients with a gBRCA PV, and healthy gBRCA PV carriers. Ovarian reserve was evaluated based on the efficacy of OS and AMH levels. Results: A total of 85 patients underwent 100 cycles. The mean age (32.2 ± 3.9 years; p = 0.61) and median AMH level (1.9 [0.2–13] μg/L; p = 0.22) were similar between groups. Correlations between the number of mature oocytes and AMH level (p < 0.001) and between AMH and age (p < 0.001) were observed. No differences in the number of retrieved mature oocytes were observed between groups (p = 0.41), or for other OS parameters. Conclusion: Neither BC nor a gBRCA PV significantly affects ovarian reserve and FP efficacy in terms of the number of mature oocytes retrieved.
4 February 2026 in Orphanet Journal of Rare Diseases
Background: Recessive congenital methemoglobinemia (RCM) is a rare autosomal recessive disorder characterized by a deficiency of NADH-cytochrome b5 reductase. Under normal conditions, cytochrome b5 reductase and NADH reductase maintain methemoglobin in the physiological range by keeping heme iron in the Fe 2+ state. RCM presents in two clinical forms. Type I presents with isolated cyanosis, while type II presents also with severe neurocognitive manifestations. Genetic analysis of the CYB5R3 gene is often used for diagnosis. Treatment with methylene blue, ascorbic acid, or riboflavin can reduce cyanosis, but does not affect neurological outcomes. Main body: We conducted a systematic review of RCM, identifying all previously reported cases, including one from our center. In addition, we conducted a meta-analysis of individual participant data and provided a comprehensive review of clinical manifestations, genotype-phenotype correlations and treatment options, as well as proposing a diagnostic flow chart. Conclusion: In the case of RCM, diagnosis is primarily achieved through genetic analysis based on direct sequencing. The described pathogenic variants are specific to either type I or type II RCM when considered in combination with their allelic variants in compound heterozygous cases. Well known variants such as c.757G>A is associated with type I in both homo- and heterozygous state. Whereas c.226G> is associated with type I in compound heterozygous state with c.173G>A or c.827C>T and type 2 in homozygous state. Similar results are observed for multiple other variants. Ascorbic acid is the most commonly used treatment. Clinical trial number: Not applicable.