Hereditary coagulation factor XI deficiency: a rare or neglected disease? Results from a retrospective, single-centre cohort in northern Italy.

To examine real-life clinical data regarding hereditary factor XI (FXI) deficiency from a secondary care centre. Retrospective review of clinical records for every FXI:C 0.7 IU/ml or less reported from 2012 to 2020. Seventy-nine patients were included. Six (7.6%) had a severe deficiency (FXI:C <0.2 IU/ml). Only 55 (69.6%) patients were referred to the Haemostasis Centre. Among them, six (15%) were subsequently not identified at increased haemorrhagic risk before a surgical/obstetrical procedure. Thirty-three (41.8%) experienced at least one bleeding event, minor (25 patients) and/or major (16 patients). Minor bleedings were predominantly spontaneous and more frequent in women, major events were mainly provoked. No correlation was found between FXI:C and risk of bleeding ( P  = 0.9153). Lower FXI:C, but not a positive bleeding history, was related with higher likelihood of being referred to the Haemostasis Centre ( P  = 0.0333). Hereditary FXI deficiency prevalence is likely underestimated, real-life clinical practices outside reference centres could be suboptimal.

Four cases of acquired hemophilia A following immunization with mRNA BNT162b2 SARS-CoV-2 vaccine.

Acquired hemophilia A (AHA) is a rare autoimmune disease caused by neutralizing autoantibodies against coagulation Factor VIII. Immunomodulatory effects of SARS-CoV-2 vaccination are still poorly understood, with reports of immune-mediated conditions developing after immunization. In the province of Reggio Emilia, Northern Italy, we observed four cases of AHA following SARS-CoV-2 immunization with mRNA BNT162b2 vaccine (produced by Pfizer-BioNTech) during the first eight months from the beginning of SARS-CoV-2 vaccination campaign. During this time frame, 235,597 people received at least one dose of BNT162b2 vaccine. The total population of Reggio Emilia province is 526,349. The unusual observation of four cases of AHA in our province could be of interest and could sensitize healthcare personnel toward a possible complication of SARS-Cov-2 immunization. Nonetheless, vaccination benefits exceed potential side effects and play a central role in individual and public health to effectively protect people from COVID-19 and to stop the pandemic.

Improvement of sperm morphology after surgical varicocele repair.

BACKGROUND: A causative relationship between varicocele and impairment of semen quality has been largely investigated in the context of male infertility, although its clinical benefit remains controversial. OBJECTIVE: To investigate the effect of varicocele correction on detailed morphologic microscopic semen parameters in a large homogeneous cohort of patients and to evaluate which factors could predict semen improvement after the surgical treatment. MATERIALS AND METHODS: An observational, retrospective cohort study was carried out including all patients undergoing surgical treatment for varicocele from September 2011 to March 2020 in the same clinical centre. Enrolled males performed at least one semen analysis before and one after surgical varicocele correction. Primary outcome was the detailed morphologic microscopic sperm evaluation. Secondary outcomes were conventional semen analyses. RESULTS: A total of 121 males (mean age 24.6 ± 6.1 years) were enrolled. Using detailed morphologic microscopic sperm evaluation, a significant morphological improvement was recorded, with a reduction in head and tail abnormalities. Moreover, a significant increase in sperm concentration (p = 0.015) and percentage of progressive and total motility (p = 0.022 and p = 0.039) were observed after surgery. The multivariate logistic analysis identified the ultrasonography varicocele degree before surgery as a main predictor of the sperm concentration improvement (p = 0.016), with the highest improvement for varicocele of I and II degree. DISCUSSION: For the first time, the detailed morphologic microscopic sperm evaluation highlights a relevant reduction in sperm abnormalities after varicocele surgery, showing its potential application in clinical practice.

Laboratory assessment of sudden sensorineural hearing loss: A case-control study.

OBJECTIVES/HYPOTHESIS: Sudden sensorineural hearing loss (SSHL) is an otologic emergency that affects five to 30 subjects per 100,000/year. The cause of SSHL remains unknown or uncertain in 70% to 90% of cases, and treatment decisions are usually made without knowing the etiology. STUDY DESIGN: Prospective case-control study. METHODS: One hundred thirty-one idiopathic SSHL patients were recruited from January 2014 to June 2015 in concordance with the Statements of Clinical Practice Guideline and divided into groups according to the disease severity. A clinical laboratory assessment was completed on blood samples collected from SSHL patients and control subjects. Multivariable regression analysis was performed to investigate the association between laboratory data and SSHL basis. RESULTS: Only a few SSHL patients were positive for autoimmunity or viral infection. Statistically significant (P < .05) higher levels of blood glucose, glycated hemoglobin (HbA1C), lipoprotein (a), and factor VIII were found in SSHL patients compared to controls. Furthermore, blood glucose, HbA1C, uric acid, factor VIII, and homocysteine were significantly associated to disease severity. CONCLUSIONS: Gluco-metabolic, lipidic, and coagulative laboratory data support the vascular hypothesis for SSHL and its severity. LEVEL OF EVIDENCE: 3b Laryngoscope, 127:2375-2381, 2017.