Search Results (9)

Introduction: Masseter vestibular evoked myogenic potentials (M-VEMPs) are a recent tool for assessing a vestibulo-trigeminal pathway departing from the saccule, similarly to cervical VEMPs (C-VEMPs), that evaluate saccular function via the sternocleidomastoid muscle. M-VEMPs may offer a complementary diagnostic value in vestibular neuritis (VN). Methods: This retrospective study analysed M-VEMPs and C-VEMPs in 28 monolateral patients and 1 bilateral (30 ears) diagnosed with VN between 2023 and 2024. Diagnostic evaluation included video head impulse tests (VHIT), caloric tests, ocular VEMPs, and, in a few cases, electromyography (EMG) of the sternocleidomastoid muscle. M-VEMPs were elicited using 500 Hz tone bursts at 97 dB nHL. Results were compared based on the topography of vestibular involvement and muscle response concordance. Results: M-VEMPs were always present in patients with superior VN and intact saccular function, showing consistent results with normal C-VEMPs. In some cases, with saccular dysfunction, M-VEMPs were preserved despite the absence of C-VEMPs, suggesting greater robustness. One patient with herpes zoster (HZ) involving both the VIII and trigeminal nerves showed absent M-VEMPs, indicating trigeminal pathway involvement. Edentulous patients showed reduced or absent M-VEMPs due to compromised masseter muscle electromyography activity. Conclusions: M-VEMPs are reliable and often concordant with C-VEMPs in VN but may reveal additional diagnostic information in discordant or complex cases. They are particularly useful in identifying trigeminal involvement but are limited in patients with poor masseter muscle function. Further studies are needed to clarify their full diagnostic potential. Full article

Chronic Obstructive Pulmonary Disease (COPD) and lung cancer are strictly related. To date, it is unknown if COPD-associated cancers are different from the tumors of non-COPD patients. The main goal of the study was to compare the morphological/molecular profiles of lung adenocarcinoma (LUAD) samples of COPD, non-COPD/smokers and non-COPD/non-smokers, and to investigate if a genetic instability also characterized non-pathological areas. This study included 110 patients undergoing surgery for a LUAD, divided into three groups: COPD/smoker LUAD (38), non-COPD/smoker LUAD (54) and non-COPD/non-smoker LUAD (18). The tissue samples were systemically evaluated by pathologists and analyzed using a 30-gene Next Generation Sequencing (NGS) panel. In a subset of patients, tissues taken far from the neoplasia were also included. The non-COPD/smoker LUAD were characterized by a higher proliferative index (p = 0.001), while the non-COPD/non-smoker LUAD showed higher percentages of lepidic pattern (p = 0.008), lower necrosis, higher fibrosis, and a significantly lower mutation rate in the KRAS and PIK3CA genes. Interestingly, the same gene mutations were found in pathological and normal areas exclusively in the COPD/smokers and non-COPD/smokers. COPD/smoker LUAD seem to be similar to non-COPD/smoker LUAD, particularly for the genetic background. A less aggressive cancer phenotype was confirmed in non-COPD/non-smokers. The genetic alterations detected in normal lungs from smokers with and without COPD reinforce the importance of screening to detect early neoplastic lesions. Full article

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by impaired social communication and restricted or repetitive behavior and interests. Psychic distress is common among individuals with ASD, especially in its milder form (level 1), with anxiety and depression being the most common types. Recent research has identified neuroinflammation and gut dysbiosis as potential neurobiological mechanisms underlying ASD. Palmitoylethanolamide (PEA), an endocannabinoid (eCB)-like compound, has shown promise in modulating such mechanisms and may thus have therapeutic implications for ASD. To date, no clinical trial has evaluated the efficacy of PEA in adults with ASD. This 12-week open-label study will assess the feasibility, tolerability, safety, and efficacy of ultramicronized PEA (um-PEA) in treating symptoms of psychic distress, such as anxiety and depression, in adults with level 1 ASD. Secondary research endpoints will include um-PEA’s effects on levels of personal autonomy and neurocognitive and interpersonal function. From a biological point of view, this study will assess um-PEA’s effects on inflammatory markers, the metabolic profile, eCB system modulation, and microbial composition as potential mechanisms of action for its therapeutic effect. In conclusion, this study will investigate a novel approach to the treatment of adults presenting with psychic distress in the context of level 1 ASD. The results may provide valuable insight into the use of um-PEA as a treatment option for ASD adults, addressing a significant unmet clinical need. Full article

(1) Background: Patients affected by Ménière’s disease can experience Tumarkin’s syndrome, which is characterized by postural instability, gait abnormalities, and, occasionally, an abrupt loss of balance known as vestibular drop attack or Tumarkin’s crisis. In this study, semicircular canal plugging is proposed as the definitive treatment for this condition. The outcomes of this type of surgery are discussed. (2) Methods: A total of 9 patients with a confirmed diagnosis of Ménière disease suffering from Tumarkin crisis underwent posterior semicircular canal plugging. These patients were assessed with Video Head Impulse Tests, vestibular evoked myogenic potentials, and Pure Tone Audiometry preoperatively and postoperatively. (3) Results: VHIT showed a postoperative decrease in PSC gain median (Preop. 0.86 and postop. 0.52; p < 0.009). No statistically significant differences were described for the anterior semicircular canal and the lateral semicircular canal. No patient experienced new Tumarkin crisis after the surgical treatment. (4) Conclusions: Our ten years of experience with posterior semicircular canal plugging in Ménière disease patients with Tumarkin’s syndrome has shown that this type of surgical procedure is successful in controlling Tumarkin’s crisis, with high patient satisfaction and little worsening in hearing level. Full article

Posterior semicircular canal dehiscence (PSCD) has been demonstrated to result in a third mobile window mechanism (TMWM) in the inner ear similar to superior semicircular canal dehiscence (SSCD). Typical clinical and instrumental features of TMWM, including low-frequency conductive hearing loss (CHL), autophony, pulsatile tinnitus, sound/pressure-induced vertigo and enhanced vestibular-evoked myogenic potentials, have been widely described in cases with PSCD. Nevertheless, video-head impulse test (vHIT) results have been poorly investigated. Here, we present six patients with PSCD presenting with a clinical scenario consistent with a TMWM and an impaired vestibulo-ocular reflex (VOR) for the affected canal on vHIT. In two cases, an additional dehiscence between the facial nerve and the horizontal semicircular canal (HSC) was detected, leading to a concurrent VOR impairment for the HSC. While in SSCD, a VOR gain reduction could be ascribed to a spontaneous “auto-plugging” process due to a dural prolapse into the canal, the same pathomechanism is difficult to conceive in PSCD due to a different anatomical position, making a dural herniation less likely. Alternative putative pathomechanisms are discussed, including an endolymphatic flow dissipation during head impulses as already hypothesized in SSCD. The association of symptoms/signs consistent with TMWM and a reduced VOR gain for the posterior canal might address the diagnosis toward PSCD. Full article

Intrathymic localizations of melanoma represent a very rare entity, with fewer than ten cases of intrathymic melanoma described in the literature. Herein, we describe two cases of patients who underwent surgical removal of a thymic mass at our thoracic surgery department between 2015 and 2022. The final pathological examination revealed a malignant melanoma in both cases; we therefore carried out a literature review to identify such rare and similar cases. In the first case, the intrathymic localization of melanoma was the first manifestation of the disease, posing a dilemma regarding the metastatic and primitive nature of the neoplasm. The second case described a thymic metastasis from a known previous cutaneous melanoma, for which the patient had successfully been treated six years earlier. After carefully reviewing the literature, we identified only six cases of verified primary intrathymic melanomas and one case of intrathymic metastasis resulting from melanoma previously described. Pathologists should be aware of the occurrence of this rare entity and mindful of the differential diagnoses. Several tools, including immunostaining of melanocytic markers and molecular investigations, are mandatory for final pathological diagnosis. Full article

The association between acoustic neuroma and positional vertigo with paroxysmal positional nystagmus is relatively rare, but, when present, it certainly represents a challenge for the otoneurologist. There are few reports in the literature on this particular issue, and some questions are still unanswered, particularly regarding the characteristics of positional nystagmus that may distinguish between a true benign paroxysmal vertigo and a positional nystagmus associated with the tumor. We present the videonystagmographic patterns of seven patients with acoustic tumor who had paroxysmal positional nystagmus and analyzed its features. A concomitant true benign paroxysmal positional vertigo may be present during the follow-up of a non-treated patient, as the paroxysmal positional vertigo may be the first symptom of the tumor, and it may show characteristics that are very similar to a posterior semicircular canal canalolithiasis or a horizontal canal “heavy or light cupula”. The possible mechanisms are discussed. Full article

Chronic rejection (CR) is the main culprit for reduced survival and quality of life in patients undergoing lung transplantation (Ltx). High-throughput approaches have been used to unveil the molecular pathways of CR, mainly in the blood and/or in bronchoalveolar lavage. We hypothesized that a distinct molecular signature characterizes the biopsies of recipients with clinically confirmed histological signs of CR. Eighteen cystic fibrosis patients were included in the study and RNA sequencing was performed in 35 scheduled transbronchial biopsies (TBBs): 5 with acute cellular rejection, 9 with CR, and 13 without any sign of post-LTx complication at the time of biopsy; 8 donor lung samples were used as controls. Three networks with 33, 26, and 36 differentially expressed genes (DEGs) were found in TBBs with CR. Among these, seven genes were common to the identified pathways and possibly linked to CR and five of them (LCN2, CCL11, CX3CL1, CXCL12, MUC4) were confirmed by real-time PCR. Immunohistochemistry was significant for LCN2 and MUC4. This study identified a typical gene expression pattern in TBBs with histological signs of CR and the LCN2 gene appeared to play a central role. Thus, it could be crucial in CR pathophysiology. Full article

The thymus is a specialized primary lymphoid organ located in the midline pre-vascular mediastinum. The organ is the site of various pathological processes, neoplastic and not, whose rarity has not allowed in-depth studies on clinical or histological features of rarest and unusual variants. Herein, we report a 10-year Padova experience in the surgical pathology of the thymus, focusing on the pathological description of nonneoplastic lesions and rare epithelial and mesenchymal tumors recorded in our database, which comprises over 600 thymectomies. The extrapolated rare cases have been categorized into four groups that included 15 cysts, 18 carcinomas, 5 neuroendocrine tumors, and 2 soft tissue tumors. The cases are described from a clinical and pathological point of view and discussed in dedicated sections with a review of the most important literature. In this case, review series, we aim to update the epidemiology of these rare entities, improve diagnostic awareness, and finally, promote a collaborative network between referral centers. Full article