Hearing loss in beta-thalassaemia: An Italian multicentre case-control study.

BACKGROUND: Despite numerous studies, the true scenario of hearing loss in beta-thalassaemia remains rather nebulous. MATERIALS AND METHODS: Pure tone audiometry, chelation therapy, demographics and laboratory data of 376 patients (mean age 38.5 ± 16.6 years, 204 females, 66 non-transfusion-dependent) and 139 healthy controls (mean age 37.6 ± 17.7 years, 81 females) were collected. RESULTS: Patient and control groups did not differ for age (p = 0.59) or sex (p = 0.44). Hypoacusis rate was higher in patients (26.6% vs. 7.2%; p < 0.00001), correlated with male sex (32.6% in males vs. 21.8% in females; p = 0.01) and it was sensorineural in 79/100. Hypoacusis rate correlated with increasing age (p = 0.0006) but not with phenotype (13/66 non-transfusion-dependent vs. 87/310 transfusion-dependent patients; p = 0.16). Sensorineural-notch prevalence rate did not differ between patients (11.4%) and controls (12.2%); it correlated with age (p = 0.01) but not with patients' sex or phenotype. Among adult patients without chelation therapy, the sensorineural hypoacusis rate was non-significantly lower compared to chelation-treated patients while it was significantly higher compared to controls (p = 0.003). CONCLUSIONS: Sensorineural hypoacusis rate is high in beta-thalassaemia (about 21%) and it increases with age and in males while disease severity or chelation treatment seems to be less relevant. The meaning of sensorineural-notch in beta-thalassaemia appears questionable.

Perioperative imaging predictors of tumor progression and pseudoprogression: A systematic review.

In high-grade gliomas, pseudoprogression after radiation treatment might dramatically impact patient's management. We searched for perioperative imaging predictors of pseudoprogression in high-grade gliomas according to PRISMA guidelines, using MEDLINE/Pubmed and Embase (until January 2024). Study design, sample size, setting, diagnostic gold standard, imaging modalities and contrasts, and differences among variables or measures of diagnostic accuracy were recorded. Study quality was assessed through the QUADAS-2 tool. Twelve studies (11 with MRI, one with PET; 1058 patients) were reviewed. Most studies used a retrospective design (9/12), and structural MRI (7/12). Studies were heterogeneous in metrics and diagnostic reference standards; patient selection bias was a frequent concern. Pseudoprogression and progression showed some significant group differences in perioperative imaging metrics, although often with substantial overlap. Radiomics showed moderate accuracy but requires further validation. Current literature is scarce and limited by methodological concerns, highlighting the need of new predictors and multiparametric approaches.

Transient Central Diabetes Insipidus (Arginine Vasopressin Deficiency) Following SARS-CoV-2 Vaccination: A Case Report and Literature Review.

INTRODUCTION: Since December 2019, severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has affected millions of people, causing the COVID-19 global pandemic. The use of novel technologies led to the development of different types of SARS-CoV-2 vaccines that have reduced severe disease courses and related deaths. Besides the positive impact of vaccination on the pandemic, local and systemic side effects have been reported; they are usually mild to moderate, although also serious adverse events have been described. CASE PRESENTATION: A 21-year-old female was referred to our hospital for the recent onset of severe polyuria and polydipsia, with the need for about 8 liters of daily water intake. The symptoms developed seven days after the administration of the second dose of the mRNA-based (Pfizer-BioNTech® BNT162b2) SARS-CoV-2 vaccine. In the suspicion of central diabetes insipidus (DI) development, she started treatment with desmopressin (Minirin® tablets) 60 mg/day with an improvement of symptoms and thirst. A thickening of the pituitary stalk was observed at the pituitary MRI with loss of the posterior pituitary bright spot on T1 weighted images. To confirm the diagnosis of central DI, both the water deprivation test and arginine stimulated copeptin test were performed; whilst the former gave no clear-cut indication of DI, the latter showed a reduced copeptin peak after arginine infusion consistent with the diagnosis of partial central DI. Furthermore, the development of symptoms right after the second dose of the vaccine strengthened the hypothesis that DI was related to the vaccination itself. After our evaluation, there was a progressive reduction of desmopressin dose to a complete discontinuation with the maintenance of a normal hydroelectrolytic balance. Clinical and biochemical follow-up was performed by repeating a pituitary MRI and a second arginine-stimulated copeptin test 15 months after the diagnosis. This time, copeptin levels reached a significantly higher peak after arginine stimulation that completely excluded central DI and at pituitary MRI, the thickening of the pituitary stalk previously described was no longer visible. CONCLUSION: Neurohypophysitis can have an abrupt onset independently of the etiology. Central DI is a rather exceptional event after SARS-CoV-2 vaccination but should be recalled in case of sudden polyuria and polydipsia. DI is indeed reported even after SARS-CoV-2 infection, thus, this report should not discourage the use of mRNA-based vaccines. Furthermore, our case demonstrates that full recovery of posterior pituitary function is possible after immunization with anti-Covid-19 BNT162b2 vaccine. Further studies are needed to clarify the possible mechanism relating to SARS-CoV-2 vaccination and this rare adverse event.

Brain perfusion changes in beta-thalassemia.

BACKGROUND: Brain injury in hereditary hemoglobinopathies is commonly attributed to anemia-related relative hypoperfusion in terms of impaired oxygen blood supply. Supratentorial and infratentorial vascular watershed regions seem to be especially vulnerable, but data are very scarce. AIMS: We investigated a large beta-thalassemia sample with arterial spin labeling in order to characterize regional perfusion changes and their correlation with phenotype and anemia severity. METHODS: We performed a multicenter single-scanner cross-sectional 3T-MRI study analyzing non-invasively the brain perfusion in 54 transfusion-dependent thalassemia (TDT), 23 non-transfusion-dependent thalassemia (NTDT) patients and 56 Healthy Controls (HC). Age, hemoglobin levels, and cognitive functioning were recorded. RESULTS: Both TDT and NTDT patients showed globally increased brain perfusion values compared to healthy controls, while no difference was found between patient subgroups. Using age and sex as covariates and scaling the perfusion maps for the global cerebral blood flow, beta-thalassemia patients showed relative hyperperfusion in supratentorial/infratentorial watershed regions. Perfusion changes correlated with hemoglobin levels (p = 0.013) and were not observed in the less severely anemic patients (hemoglobin level > 9.5 g/dL). In the hyperperfused regions, white matter density was significantly decreased (p = 0.0003) in both patient subgroups vs. HC. In NTDT, white matter density changes correlated inversely with full-scale Intelligence Quotient (p = 0.007) while in TDT no correlation was found. CONCLUSION: Relative hyperperfusion of watershed territories represents a hemodynamic hallmark of beta-thalassemia anemia challenging previous hypotheses of brain injury in hereditary anemias. A careful management of anemia severity might be crucial for preventing structural white matter changes and subsequent long-term cognitive impairment.