Anti-DFS70 antibodies detected by specific methods in patients with thrombosis or recurrent pregnancy loss: no evidence of an association

A dense fine speckled pattern (DFS) caused by antibodies to the DFS70 kDa nuclear protein is a relatively common finding while testing for anti-nuclear antibodies (ANA) by indirect immunofluorescence (IIF) on HEp-2 cells. However, despite many efforts and numerous studies, the clinical significance of anti-DFS70 antibodies is still unknown as they can be found in patients with various disorders and even in healthy subjects. In this study we aimed at verifying whether these antibodies are associated with thrombotic events or with unexplained recurrent pregnancy loss (RPL). We studied 443 patients with venous or arterial thrombosis or RPL and 244 controls by IIF on HEp-2 cells and by a DFS70-specific chemiluminescent immunoassay (CIA). The DFS pattern was observed in IIF in 31/443 (7.0%) patients and in 6/244 (2.5%) controls (p\u2009=\u20090.01) while anti-DFS70 specific antibodies were detected by CIA in 11 (2.5%) patients and in one (0.4%) control (p\u2009=\u20090.06). Positive samples, either by IIF or by CIA, were then assayed by a second DFS70-specific line-immunoassay (LIA) method: 83.3% of the CIA positive samples were confirmed DFS70 positive versus only 29.7% of the IIF positive samples. These findings show that IIF overestimates anti-DFS70 antibody frequency and that results obtained by specific CIA and LIA assays do not indicate that venous or arterial thrombosis or RPL are linked to a higher prevalence of anti-DFS70 antibodies

Global disparities in surgeons’ workloads, academic engagement and rest periods: the on-calL shIft fOr geNEral SurgeonS (LIONESS) study

: The workload of general surgeons is multifaceted, encompassing not only surgical procedures but also a myriad of other responsibilities. From April to May 2023, we conducted a CHERRIES-compliant internet-based survey analyzing clinical practice, academic engagement, and post-on-call rest. The questionnaire featured six sections with 35 questions. Statistical analysis used Chi-square tests, ANOVA, and logistic regression (SPSS® v. 28). The survey received a total of 1.046 responses (65.4%). Over 78.0% of responders came from Europe, 65.1% came from a general surgery unit; 92.8% of European and 87.5% of North American respondents were involved in research, compared to 71.7% in Africa. Europe led in publishing research studies (6.6 ± 8.6 yearly). Teaching involvement was high in North America (100%) and Africa (91.7%). Surgeons reported an average of 6.7 ± 4.9 on-call shifts per month, with European and North American surgeons experiencing 6.5 ± 4.9 and 7.8 ± 4.1 on-calls monthly, respectively. African surgeons had the highest on-call frequency (8.7 ± 6.1). Post-on-call, only 35.1% of respondents received a day off. Europeans were most likely (40%) to have a day off, while African surgeons were least likely (6.7%). On the adjusted multivariable analysis HDI (Human Development Index) (aOR 1.993) hospital capacity > 400 beds (aOR 2.423), working in a specialty surgery unit (aOR 2.087), and making the on-call in-house (aOR 5.446), significantly predicted the likelihood of having a day off after an on-call shift. Our study revealed critical insights into the disparities in workload, access to research, and professional opportunities for surgeons across different continents, underscored by the HDI

Functional Characterization of the OFD1 Protein Reveals a Nuclear Localization and Physical Interaction with Subunits of a Chromatin Remodeling Complex

Oral-facial-digital (OFD) type I syndrome is an X-linked dominant disease (MIM311200) characterized by malformations of oral cavity, face, and digits and by cystic kidneys. We previously identified OFD1, the gene responsible for this disorder, which encodes for a centrosomal protein with an unknown function. We now report that OFD1 localizes both to the primary cilium and to the nucleus. Moreover, we demonstrate that the OFD1 protein is able to self-associate and that this interaction is mediated by its coiled-coil rich region. Interestingly, we identify an OFD1-interacting protein RuvBl1, a protein belonging to the AAA+-family of ATPases, which has been recently associated to cystic kidney in zebrafish and to ciliary assembly and function in Chlamydomonas reinhardtii. We also provide experimental evidence that OFD1, together with RuvBl1, is able to coimmunoprecipitate with subunits of the human TIP60 histone acetyltransferase (HAT) multisubunit complex. On the basis of these results, we hypothesize that OFD1 may be part of a multi-protein complex and could play different biological functions in the centrosome-primary cilium organelles as well as in the nuclear compartment

Real-time diagnosis of H. pylori infection during endoscopy: Accuracy of an innovative tool (EndoFaster)

Background: EndoFaster is novel device able to perform real-time ammonium measurement in gastric juice allowing H. pylori diagnosis during endoscopy. This large study aimed to validate the accuracy of EndoFaster for real-time H. pylori detection. Methods: Consecutive patients who underwent upper endoscopy in two centres were prospectively enrolled. During endoscopy, 4 ml of gastric juice were aspirated to perform automatic analysis by EndoFaster within 90 seconds, and H. pylori was considered present (>62 ppm/ml) or absent ( 6462 ppm/ml). Accuracy was measured by using histology as gold standard, and 13C-urea breath test (UBT) in discordant cases. Accuracy, sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV) were calculated. Results: Overall, 189 patients were enrolled, but in seven (3.4%) the aspirated gastric juice amount was insufficient to perform the test. The accuracy, sensitivity, specificity, PPV, and NPV were 87.4%, 90.3%, 85.5%, 80.2%, 93.1%, respectively, and 92.6%, 97.1%, 89.7%, 85.9%, 98.0%, respectively, when H. pylori status was reclassified according to the UBT result in discordant cases. Conclusions: This study found a high accuracy/feasibility of EndoFaster for real-time H. pylori diagnosis. Use of EndoFaster may allow selecting those patients in whom routine gastric biopsies could be avoided

Real-world management of male idiopathic infertility in indication for FSH treatment: a multicenter, longitudinal, observational cohort study (open registry)

Objective: The management of male idiopathic infertility is challenging. The Italian Medicines Agency (AIFA) note 74 regulates the empirical administration of follicle-stimulating hormone (FSH), although its application in clinical practice remain conflicting. The aim was to explore the management of male idiopathic infertility and to assess the actual use of FSH. Methods: A multicenter longitudinal prospective observational study (open-registry), involving 10 Italian Andrological and Gynecological Centers was carried out. Adult men with idiopathic infertility and serum FSH levels <8 IU/L were considered. Semen and hormonal parameters were recorded at baseline and after treatment. Results: 718 patients were enrolled (age 37.6±6.5 years). FSH treatment was prescribed in 55.3% of patients, with a significant difference between Andrological (61.3%) and Gynecological (30.3%) Centers (P<0.001). Recombinant-FSH was chosen in 64.5% and the urinary form in 35.5%. When prescribed, the adherence to regimen suggested by AIFA note (FSH at the dosage of 150 IU every other day) was almost complete (>90%). Concomitant hormonal treatment was prescribed to 23 patients (3.2%), nutraceuticals alone to 109 patients (15.2%), and nutraceuticals plus FSH for 42 patients (5.9%). Sperm concentration significantly increase compared to baseline (P=0.016) in patients treated with FSH. Conclusions: Only half of infertile patients are treated with FSH, although the note 74 guarantees this therapeutic approach. FSH treatment is more frequently prescribed by Andrological Centers, confirming the heterogeneous management of male infertility. This real-life analysis confirms the beneficial effect of FSH in male idiopathic infertility, although future properly-designed studies are needed to confirm this improvement