Le malattie infettive e parassitarie in un villaggio del Burkina Faso: studio epidemiologico

La presente tesi è uno studio epidemiologico condotto in un villaggio del Burkina Faso, in un contesto rurale. Sono state eseguite un’indagine coproparassitologica su una popolazione pediatrica e una sierologica su una popolazione adulta, per la ricerca di parassitosi intestinali, ematiche e tissutali. I risultati ottenuti sono stati poi messi a confronto con dati riscontrati in letteratura per le malattie infettive presenti nel suddetto paese e con dati rilevati dal laboratorio locale

Application of Targeted Optical Coherence Tomography in Oral Cancer: A Cross-Sectional Preliminary Study

Abstract: Background/Objectives: The diagnosis of oral potentially malignant disorders (OPMDs) and oral squamous cell carcinoma (OSCC) represent a significant challenge in oral medicine. Optical coherence tomography (OCT) shows promise for evaluating oral tissue microstructure but lacks standardized diagnostic protocols tailored to the structural variability and lesions of oral mucosa. Methods: This cross-sectional observational study aims to evaluate the diagnostic accuracy of targeted biopsy-based and site-coded OCT protocols for common OPMDs and OSCC. Adult patients clinically diagnosed with OPMDs, including oral leukoplakia (OL), oral lichen planus (OLP), and OSCC were enrolled. Clinical and OCT evaluation before and after punch scalpel-site registration preceding diagnostic biopsy on the target site was performed. Blinded observers analyzed the OCT scans for OCT-based diagnoses. Sensitivity, specificity, and diagnostic accuracy for OCT evaluations before and after punch scalpel-site registration were statistically compared with histological findings. Results: A dataset of 2520 OCT scans and 210 selected images from 21 patients was obtained. Sensitivity and specificity post-target site registration were high for OSCC (98.57%, 100.00%), OL (98.57%, 98.57%), and OLP (97.14%, 98.57%). The positive predictive values ranged from 97.14% to 100.00%, while negative predictive values ranged from 98.57% to 99.29%. Inter-observer agreements were strong for OSCC (0.84) and moderate for OL (0.54) and OLP (0.47–0.49). Targeted OCT scans significantly improved diagnostic accuracy for all conditions (p < 0.001). Conclusions: This preliminary study supports using site-targeted OCT scans followed by a site-targeted punch biopsy, enhancing precision in oral diagnostics. This approach is foundational for developing pioneering automated algorithms guiding oral cancer and pre-cancer diagnosis via OCT imaging

Otogenic Meningitis: A Comparison of Diagnostic Performance of Surgery and Radiology

Development of intracranial complications from middle ear infections might be difficult to diagnose. We compared radiological and surgical findings of 26 patients affected by otogenic meningitis. Results of our analysis showed that surgery is more reliable than imaging in revealing bone defects. Therefore, suggest that surgery be performed for diagnosis and eventual management of all cases of suspected otogenic meningitis

A non-invasive approach to monitor chronic lymphocytic leukemia engraftment in a xenograft mouse model using ultra-small superparamagnetic iron oxide-magnetic resonance imaging (USPIO-MRI).

This work was supported by: Associazione Italiana Ricerca sul Cancro (AIRC) [Grant 5 x mille n.9980, (to M.F., F.M. and A. N.)]; AIRC I.G. [n. 14,326 (to M.F.)], [n.10136 and 16,722 (A.N.)], [n.15426 (to F.F.)]. AIRC and Fondazione CaRiCal co-financed Multi Unit Regional Grant 2014 [n.16695 (to F.M.)]. Italian Ministry of Health 5 × 1000 funds (to F.F). A.G R. was supported by Associazione Italiana contro le Leucemie-Linfomi-Mielomi (AIL) Cosenza - Fondazione Amelia Scorza (FAS). S.M. C.M., F.V., L. E., S. B., were supported by AIRC.Peer reviewedPostprin

24 Gliflozins and ventricular function in patients affected by chronic heart failure with diabetes mellitus

Abstract Aims Diabetes is the most common comorbidity of HF patients. SGLT2 inhibitors has been shown to reduce hospitalization in patients with HF. The cardioprotective mechanisms of gliflozines have not been elucidated. The aim of our study was to evaluate the effect of SGLT2 inhibitors on right and left ventricular function in T2DM patients with HF. Methods and results One hundred and fifteen consecutive outpatients with CHF and T2DM were screened in the Daunia Heart Failure Registry. Seventy-eight of them were enrolled and followed up between May 2019 and September 2020. All patients underwent conventional, TDI and strain echocardiography in an ambulatory setting, at the beginning and after 3 months of therapy with SGLT2 inhibitors. Seventy-eight consecutive outpatients with CHF and T2DM (mean age 67.4 ± 8.4 years, male: 83%) were enrolled in the study. Thirty-eight of them started the treatment with SGLT2 inhibitors, while the remaining forty continued their original therapy. After 3 months of therapy, LVEF, LVEDD, and LVESD statistically improved (respectively, from 39.68 ± 7.78% to 45.08 ± 9.04%, P: 0.001 and 57.32 ± 9.76 mm to 54.16 ± 6.54 mm, P: 0.01 and from 47.51 ± 1.58 mm to 43.24 ± 8.12, P: 0.0008). Changes in left ventricular function and dimensions were not significant in patients who did not started a therapy with SGLT2 inhibitors. There was a statistically significant reduction of E/E′ (from 16.51 ± 22.55 to 9.73 ± 3.35, P: 0.0007) in patients with treatment with SGLT2i. Moreover, there was an improvement of right ventricular function, due to a statistically significant reduction of PAPs and increase of TAPSE (respectively, from 30.63 ± 8.80 to 24.00 ± 8.35, P: 0.008; from 19.16 ± 2.54 to 21.18 ± 2.84, P: 0.0003) and S′ (10.42 ± 2.09 to 12.91 ± 2.50, P: 0.000) 3 months after the administration of SGLT2 inhibitors therapy vs. the control group. Conclusions In a real-world scenario, our results showed that the treatment with SGLT-2 inhibitors in patients with CHF and diabetes is associated with an echocardiographic biventricular function improvement

Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G > A mitochondrial DNA mutation: a case report

<p>Abstract</p> <p>Background</p> <p>Leigh Syndrome (LS) is a severe neurodegenerative disorder characterized by bilateral symmetrical necrotic lesions in the basal ganglia and brainstem. Onset is in early infancy and prognosis is poor. Causative mutations have been disclosed in mitochondrial DNA and nuclear genes affecting respiratory chain subunits and assembly factors.</p> <p>Case presentation</p> <p>Here we report the clinical and molecular features of a 15-month-old female LS patient. Direct sequencing of her muscle-derived mtDNA revealed the presence of two apparently homoplasmic variants: the novel m.14792C > G and the already known m.14459G > A resulting in p.His16Asp change in cytochrome b (MT-CYB) and p.Ala72Val substitution in ND6 subunit, respectively. The m.14459G > A was heteroplasmic in the mother's blood-derived DNA.</p> <p>Conclusions</p> <p>The m.14459G > A might lead to LS, complicated LS or Leber Optic Hereditary Neuropathy. A comprehensive re-evaluation of previously described 14459G > A-mutated patients does not explain this large clinical heterogeneity.</p

Sex-based electroclinical differences and prognostic factors in epilepsy with eyelid myoclonia

Although a striking female preponderance has been consistently reported in epilepsy with eyelid myoclonia (EEM), no study has specifically explored the variability of clinical presentation according to sex in this syndrome. Here, we aimed to investigate sex-specific electroclinical differences and prognostic determinants in EEM. Data from 267 EEM patients were retrospectively analyzed by the EEM Study Group, and a dedicated multivariable logistic regression analysis was developed separately for each sex. We found that females with EEM showed a significantly higher rate of persistence of photosensitivity and eye closure sensitivity at the last visit, along with a higher prevalence of migraine with/without aura, whereas males with EEM presented a higher rate of borderline intellectual functioning/intellectual disability. In female patients, multivariable logistic regression analysis revealed age at epilepsy onset, eyelid myoclonia status epilepticus, psychiatric comorbidities, and catamenial seizures as significant predictors of drug resistance. In male patients, a history of febrile seizures was the only predictor of drug resistance. Hence, our study reveals sex-specific differences in terms of both electroclinical features and prognostic factors. Our findings support the importance of a sex-based personalized approach in epilepsy care and research, especially in genetic generalized epilepsies

The spectrum of epilepsy with eyelid myoclonia: delineation of disease subtypes from a large multicenter study

Objective Epilepsy with eyelid myoclonia (EEM) has been associated with marked clinical heterogeneity. Early epilepsy onset has been recently linked to lower chances of achieving sustained remission and to a less favorable neuropsychiatric outcome. However, much work is still needed to better delineate this epilepsy syndrome. Methods In this multicenter retrospective cohort study, we included 267 EEM patients from nine countries. Data on electroclinical and demographic features, intellectual functioning, migraine with or without aura, family history of epilepsy, and epilepsy syndromes in relatives were collected in each patient. The impact of age at epilepsy onset (AEO) on EEM clinical features was investigated, along with the distinctive clinical characteristics of patients showing sporadic myoclonia involving body regions other than eyelids (body-MYO). Results Kernel density estimation revealed a trimodal distribution of AEO, and Fisher-Jenks optimization disclosed three EEM subgroups: early onset (EO-EEM), intermediate onset (IO-EEM), and late onset (LO-EEM). EO-EEM was associated with the highest rate of intellectual disability, antiseizure medication refractoriness, and psychiatric comorbidities and with the lowest rate of family history of epilepsy. LO-EEM was associated with the highest proportion of body-MYO and generalized tonic-clonic seizures (GTCS), whereas IO-EEM had the lowest observed rate of additional findings. A family history of EEM was significantly more frequent in IO-EEM and LO-EEM compared with EO-EEM. In the subset of patients with body-MYO (58/267), we observed a significantly higher rate of migraine and GTCS but no relevant differences in other electroclinical features and seizure outcome. Significance Based on AEO, we identified consistent EEM subtypes characterized by distinct electroclinical and familial features. Our observations shed new light on the spectrum of clinical features of this generalized epilepsy syndrome and may help clinicians toward a more accurate classification and prognostic profiling of EEM patients