Clinicopathological and molecular landscape of 5-year IDH-wild-type glioblastoma survivors: A multicentric retrospective study.

Five-year glioblastoma (GBM) survivors (LTS) are the minority of the isocitrate dehydrogenase (IDH)-wild-type GBM patients, and their molecular fingerprint is still largely unexplored. This multicenter retrospective study analyzed a large LTS-GBM cohort from nine Italian institutions and molecularly characterized a subgroup of patients by mutation, DNA methylation (DNAm) and copy number variation (CNV) profiling, comparing it to standard survival GBM. Mutation scan allowed the identification of pathogenic variants in most cases, showing a similar mutational spectrum in both groups, and highlighted TP53 as the most commonly mutated gene in the LTS group. We confirmed DNAm as a valuable tool for GBM classification with a diagnostic refinement by using brain tumor classifier v12.5. LTS were more heterogeneous with more cases classified as diffuse pediatric high-grade glioma subtypes and having peculiar CNVs. We observed a global higher methylation in CpG islands and in gene promoters of LTS with methylation levels of distinct gene promoters correlating with prognosis.

Energy Delivered by Subthalamic Deep Brain Stimulation for Parkinson Disease Correlates With Depressive Personality Trait Shift.

OBJECTIVES: Despite the large amount of literature examining the potential influence of subthalamic nucleus deep brain stimulation (STN-DBS) on psychiatric symptoms and cognitive disorders, only a few studies have focused on its effect on personality. We investigated the correlation between total electrical energy delivered (TEED) and the occurrence of depressive traits in patients with Parkinson disease (PD) after one year of DBS. MATERIALS AND METHODS: Our study involved 20 patients with PD (12 women, mean [±SD] age 57.60 ± 7.63 years) who underwent bilateral STN-DBS, whose personality characteristics were assessed using the Minnesota Multiphasic Personality Inventory-2 (MMPI-2), according to the core assessment program for surgical interventional therapies in Parkinson's disease (CAPSIT-PD) procedure. RESULTS: We found that despite a marked improvement in motor functions and quality of life after 12 months, patients showed a significant increase in MMPI-2 subscales for depression (D scale and Depression scale) and in other content component scales (low self-esteem, work interference, and negative treatment indicators). Interestingly, only the TEED on the right side was inversely correlated with the changes in scale D (rs = -0.681, p = 0.007), whereas depressive traits did not correlate with disease duration, levodopa equivalent daily dose (LEDD) reduction, patient's age, or severity of motor symptoms. CONCLUSIONS: Our preliminary observations indicate that despite the excellent motor outcome and general improvement in quality of life, DBS treatment can result in patients poorly adjusting to their personal, familiar, and socio-professional life. Different influences and multiple factors (such as TEED, intra/postsurgical procedure, coping mechanisms, and outcome expectations) may affect depressive traits. Further advances are expected to improve stimulation methods.

The Impact of Telemedicine on Parkinson's Care during the COVID-19 Pandemic: An Italian Online Survey.

Traditionally, medical care and research in Parkinson's disease (PD) have been conducted through in-person visit. The recent Coronavirus Disease 2019 (COVID-19) pandemic has profoundly impacted the delivery of in-person clinical care. We conducted an online survey to investigate the impact of COVID-19 on access to telehealth care, interviewing both PD patients and neurologists. Survey responses were collected from 1 March to 31 May 2021 through an anonymous, self-reported questionnaire, on the 'Qualtrics' platform. In total, 197 patients and 42 neurologists completed the survey. In our sample, 37.56% of PD patients and 88.10% of neurologists reported having used alternatives to in-person visits, while 13.70% of PD patients and 40.48% of neurologists used telemedicine. Data showed that respondents were generally satisfied with the use of telemedicine during the COVID-19 pandemic. The relational dimension between patient and neurologist seems to be the factor that most positively affected the telemedicine experience, contributing greatly to a more patient-centred care. Current findings suggest the need to improve the access to telehealth services for patients with PD. The technology has the potential to improve the care of frail patients, especially when availability of face-to-face visits is limited.

A New Implantable Closed-Loop Clinical Neural Interface: First Application in Parkinson's Disease.

Deep brain stimulation (DBS) is used for the treatment of movement disorders, including Parkinson's disease, dystonia, and essential tremor, and has shown clinical benefits in other brain disorders. A natural path for the improvement of this technique is to continuously observe the stimulation effects on patient symptoms and neurophysiological markers. This requires the evolution of conventional deep brain stimulators to bidirectional interfaces, able to record, process, store, and wirelessly communicate neural signals in a robust and reliable fashion. Here, we present the architecture, design, and first use of an implantable stimulation and sensing interface (AlphaDBSR System) characterized by artifact-free recording and distributed data management protocols. Its application in three patients with Parkinson's disease (clinical trial n. NCT04681534) is shown as a proof of functioning of a clinically viable implanted brain-computer interface (BCI) for adaptive DBS. Reliable artifact free-recordings, and chronic long-term data and neural signal management are in place.

Spontaneous intracerebral hemorrhage as presentation of atypical central neurocytoma: the role of angiogenesis through the characterization of tumor endothelial cells.

A 36-year-old white man presented with sudden-onset headache and rapid deterioration of consciousness. Computer tomography revealed a right capsular intra-parenchimal hemorrhage with an intraventricular component; therefore, emergency surgery was performed. Once the hematoma was evacuated, the cause of the hemorrhage was identified as a tumor mass and it was resected. Histopathological and immunohistochemical examinations of the surgical specimen disclosed a diagnosis of atypical central neurocytoma. By using a protocol recently set up in our laboratory, we succeeded in isolating and propagating, for the first time, human endothelial cells from central neurocytoma (CN-ECs). Different analyses revealed that isolated CN-ECs consist of a pure endothelial cell population, with the expression of endothelial markers (CD31, CD309/VEGFR2, CD105, eNOS) and with angiogenic properties, such as the uptake of LDL. Moreover, CN-ECs spontaneously organize in a vascular-like structure. The goal of this case report is to stress the need for further studies focused on understanding the causes of the onset of an intra-parenchimal hemorrhage in the presence of an atypical central neurocytoma in order to tailor treatments to each single patient and achieve the best clinical outcome.

An anatomically based imaging sign to detect adventitial cyst derived from the superior tibiofibular joint.

The origin for complex intraneural cysts remains controversial despite recent emerging evidence to support their articular origin. The coexistence of intraneural and adventitial cysts has been described due to the proximate neurovascular bundle, i.e., the articular (neural) branch and vessels at the joint capsule. To clarify the pathogenesis, anatomically based imaging patterns can be identified. This paper characterizes a common finding identified on MRI describing the adventitial component originating from the superior tibiofibular joint (STFJ). MRIs of patients with fibular (peroneal) (n = 24) and tibial (n = 7) intraneural ganglion cysts were reviewed. Eleven patients with fibular intraneural ganglion cysts were identified as having a coexisting adventitial component. In all cases, the adventitial cyst extended from the anterior portion of the STFJ, within the capsular vessels, and along the anterior tibial vessels. The reproducible anatomy permitted the identification of an imaging pattern: the "vascular U" sign, consisting of cystic anterior tibial vessels running through the interosseous membrane between the proximal tibia and fibula. This sign was seen on axial MR image(s) obtained at the level of the fibular neck in all cases. To generalize these findings, the rare tibial intraneural ganglion cysts (derived from the posterior aspect of the STFJ) were examined; two cases had coexisting adventitial cysts with visualization of the vascular U sign. This new imaging pattern can improve the identification of adventitial cysts at the level of the STFJ.

Concomitant traumatic spinal cord and brachial plexus injuries in adult patients.

BACKGROUND: Combined injuries to the spinal cord and brachial plexus present challenges in the detection of both injuries as well as to subsequent treatment. The purpose of this study is to describe the epidemiology and clinical factors of concomitant spinal cord injuries in patients with a known brachial plexus injury. METHODS: A retrospective review was performed on all patients who were evaluated for a brachial plexus injury in a tertiary, multidisciplinary brachial plexus clinic from January 2000 to December 2008. Patients with clinical and/or imaging findings for a coexistent spinal cord injury were identified and underwent further analysis. RESULTS: A total of 255 adult patients were evaluated for a traumatic traction injury to the brachial plexus. We identified thirty-one patients with a combined brachial plexus and spinal cord injury, for a prevalence of 12.2%. A preganglionic brachial plexus injury had been sustained in all cases. The combined injury group had a statistically greater likelihood of having a supraclavicular vascular injury (odds ratio [OR] = 22.5; 95% confidence interval [CI] = 1.9, 271.9) and a cervical spine fracture (OR = 3.44; 95% CI = 1.6, 7.5). These patients were also more likely to exhibit a Horner sign (OR = 3.2; 95% CI = 1.5, 7.2) and phrenic nerve dysfunction (OR = 2.5; 95% CI = 1.0, 5.8) compared with the group with only a brachial plexus injury. CONCLUSION: Heightened awareness for a combined spinal cord and brachial plexus injury and the presence of various associated clinical and imaging findings may aid in the early recognition of these relatively uncommon injuries.

Palmaris profundus: one name, several subtypes, and a shared potential for nerve compression.

The palmaris profundus is a rare, but known anatomic variation which may lead to compression of the median nerve and/or its branches. Two patients with carpal tunnel syndrome are presented in whom a palmaris profundus was discovered at operation. In these cases, median nerve compression at the wrist was attributed to the course of the extra tendon and its local mass effect on the nerve (i.e., the palmaris profundus and median nerve shared a common sheath); more commonly, the resultant decreased available space for the median nerve within the carpal tunnel due to the presence of an accessory (10th) flexor tendon is thought to be responsible. Postoperative 3 Tesla magnetic resonance imaging (MRI) was performed to demonstrate the full course of the variant muscle; despite variations in the size and longitudinal extent of the accessory musculotendinous unit, an important similarity was noted: the intimate relationship of the median nerve and the palmaris profundus. These two cases and our review of the literature highlight the fact that one name (i.e. palmaris profundus) reflects several anatomic subtypes. However, the close relationship of the palmaris profundus with the median nerve in the forearm and the palm is a common theme which emphasizes the potential pathoanatomic consequences of this relationship: nerve compression.

Oncogenic osteomalacia caused by a phosphaturic mesenchymal tumor of the thoracic spine.

Phosphaturic mesenchymal tumors that cause the paraneoplastic syndrome known as oncogenic osteomalacia are rare. The authors report on the case of a 57-year-old man with a history of osteomalacia and in whom was diagnosed a thoracic spine tumor at the T-4 level. Complete tumor resection was accomplished. The histological diagnosis was phosphaturic mesenchymal tumor (mixed connective tissue variant). After lesion removal, the paraneoplastic syndrome resolved. At the 24-month follow-up, no recurrence of the disease was observed. The clinical presentation, surgical technique, and follow-up in this case were reviewed in detail.

[Assessment of a mass screening program for breast cancer in the Milan Health Unit 1 (ASL Provincia di Milano 1)]. / Valutazione degli aspetti organizzativi e di processo di una campagna di diagnosi precoce del cancro della mammella nella ASL Provincia di Milano 1.

This study examines the early data of a breast cancer screening campaign (Progetto Donna) set up by the Milan Health Unit 1 in 1999. The authors have focused on some basic organizational aspects of such campaign and the patients' high response to the project showed a good efficiency of this initiative, aimed at informing and awakening people. The high rate of suspiciously positive results checked in several Hospitals, led to a careful assessment of the quality and the standards of radiology services.