fMRI-Based Effective Connectivity in Surgical Remediable Epilepsies: A Pilot Study.

Simultaneous EEG-fMRI can contribute to identify the epileptogenic zone (EZ) in focal epilepsies. However, fMRI maps related to Interictal Epileptiform Discharges (IED) commonly show multiple regions of signal change rather than focal ones. Dynamic causal modeling (DCM) can estimate effective connectivity, i.e. the causal effects exerted by one brain region over another, based on fMRI data. Here, we employed DCM on fMRI data in 10 focal epilepsy patients with multiple IED-related regions of BOLD signal change, to test whether this approach can help the localization process of EZ. For each subject, a family of competing deterministic, plausible DCM models were constructed using IED as autonomous input at each node, one at time. The DCM findings were compared to the presurgical evaluation results and classified as: "Concordant" if the node identified by DCM matches the presumed focus, "Discordant" if the node is distant from the presumed focus, or "Inconclusive" (no statistically significant result). Furthermore, patients who subsequently underwent intracranial EEG recordings or surgery were considered as having an independent validation of DCM results. The effective connectivity focus identified using DCM was Concordant in 7 patients, Discordant in two cases and Inconclusive in one. In four of the 6 patients operated, the DCM findings were validated. Notably, the two Discordant and Invalidated results were found in patients with poor surgical outcome. Our findings provide preliminary evidence to support the applicability of DCM on fMRI data to investigate the epileptic networks in focal epilepsy and, particularly, to identify the EZ in complex cases.

Acquisition of surgical skills for endoscopic ear and lateral skull base surgery: a staged training programme.

SUMMARY: Endoscopic ear surgery is radically changing the treatment of several middle and inner ear pathology, but its learning presents well-known manual and technical difficulties. The aim of this paper is be to present a training programme based on a modular model of increased difficulties. The experience from 2007 to 2016 at the University Hospital of Modena and University Hospital of Verona was reviewed and analysed for further considerations and to establish stages of training. The increasing experience of expert surgeons who deal with this kind of surgery represented the main guide to establish the steps and progression of training. In addition, the potential risk of damage of vascular structures or nerves represents fundamental criteria for progression toward higher levels. Some not-mandatory skills were also suggested for stage of difficulty. Five stages of training were deemed appropriate for progressive learning of endoscopic ear and lateral skull base surgery, ranging from simple middle and external ear procedures to surgery of inner ear and internal auditory canal. Mastering of each level is suggested before attempting procedures at a higher level, in particular for procedures involving lateral skull base. Standardisation and adoption of modular incremental training are expected to facilitate improvement of otolaryngologists and neurosurgeons starting with endoscopic middle ear and lateral skull base surgery. Adherence to such a programme during the growth phase may potentially decrease the rate of complications, making the training programme safer.

Expanded transcanal transpromontorial approach to the internal auditory canal and cerebellopontine angle: a cadaveric study.

The aim of this paper is to describe and evaluate the feasibility of an expanded endoscopic transcanal transpromotorial approach (ExpTTA) to the internal auditory canal and the cerebellopontine angle. To this end, we performed a cadaveric dissection study in September 2015. In total, 2 heads (4 sides) were dissected focusing on anatomical landmarks and surgical feasibility. Data from dissections were reviewed and analysed for further consideration. In all 4 sides of the cadavers the procedure was feasible. In all cadavers, it was necessary to extensively drill the temporo-mandibular joint and to calibrate the external ear canal to allow adequate room to manoeuver the instruments and optics and to comfortably access the cerebellopontine angle. In addition, thorough skeletonisation of the carotid artery and the jugular bulb were necessary for the same purpose. In conclusion, ExpTTA appeared to be successful to access the internal auditory canal and cerebellopontine angle region. Potential extensive and routine application of this type of approach in lateral skull base surgery will depend on the development of technology and surgical refinements and on the diffusion of skull base endoscopic skills among otolaryngologists and neurosurgical community.

Combined endoscopic-microscopic approach for vestibular schwannoma removal: outcomes in a cohort of 81 patients.

Patients affected by vestibular schwannomas typically report a number of symptoms and minor disabilities after surgery. Therefore, surgeons dealing with this pathology should also try to achieve a good QoL for patients who have undergone tumour removal. The aim of this study was to analyse QoL in subjects undergoing surgery for vestibular schwannomas and to try to establish a relationship with both the tumour size and post-surgical alterations (e.g. facial motor dysfunctions, difficulties in balance, persistence of headache and tinnitus). A retrospective analysis was performed on a consecutive series of 81 patients affected by vestibular schwannomas and treated by a combined microscopic-endoscopic approach. Three groups of patients were identified on the basis of tumour size. Group 1 (lesions < 25 mm) with 31 patients (38%); Group 2 (lesions > 26 mm and < 40 mm) with 39 patients (48%); Group 3 (lesions > 41 mm) with 11 patients (14%). Data obtained with the Short Form Questionnaire showed a statistically significant difference in QoL in those undergoing intervention compared with a control group of healthy subjects. The Glasgow Benefit Inventory Questionnaire showed that 25 (31%) patients felt better, 11 (14%) felt similarly, and 45 (55%) felt poorer health conditions in comparison to the pre-surgical period. Concerning the relationship between preservation of facial nerve function and QoL, using the Glasgow Health Status Inventory, it appeared that only 34% of subjects with good facial nerve function (RGS grade I-II) complained of worsening of QoL, while 45% of those with serious facial nerve injury (RGS grade IV-V) referred poorer QoL. Moreover, the possibility of recovery of facial nerve function during the months following surgery was clearly highlighted by our analysis. Our study confirmed the close relation between tumour size and post-surgical QoL, which is worse for patients affected by larger lesions.

Acute endovascular treatment (< 48 hours) of uncoilable ruptured aneurysms at non-branching sites using silk flow-diverting devices.

A blood blister-like (BBL) or dissecting aneurysm should be carefully considered if located at a non-branching site of the supra-clinoid internal carotid artery (ICA). Several surgical and endovascular treatment methods have been proposed but they all carry a relatively high risk of morbidity and mortality. This study evaluated the effectiveness of a novel Silk flow-diverting device (SFD) placed in the early acute stage. Three patients presenting with acute subarachnoid haemorrhage caused by small blister-like aneurysms of the carotid siphon were treated within 48 hours after admission by placement of SFDs. More than one device was placed to cover the lesion. None of the patients were premedicated and started anti-platelet therapy during the procedure. All aneurysms were successfully occluded. A good outcome was observed in two out of three treated patients. No thromboembolic or haemorrhagic event occurred during or after the procedures, or during follow-up (6-14 months). SFD prevented rebleeding and the use of these devices could be proposed as an option to treat fragile uncoilable BBL aneurysms, even in the early acute phase without anti-platelet premedication. Larger studies and long-terms results are necessary.

Neurosurgical treatment of von Hippel-Lindau-associated hemangioblastomas: benefits, risks and outcome.

AIM: Von Hippel-Lindau (VHL) disease is a genetic syndrome predisposing to central nervous system (CNS) hemangioblastomas and several lesions in many organs. The cases of all VHL individuals operated on in the Neurosurgical Unit of Padua Hospital since year 2000 were reviewed in order to define which features lead to surgical treatment and to examine surgical outcome during postoperative follow-up. METHODS: The authors evaluated 20 VHL subjects (7 males and 13 females, age at surgery 32+/-10 years) who underwent 28 operations in order to remove 48 CNS hemangioblastomas and 1 endolymphatic sac tumor. Among the 49 resected lesions, 21 (42%) were cerebellar, 9 (18%) at brainstem, 19 (38%) spinal (7 cervical, 6 dorsal, 6 at cone-cauda level), and 1 (2%) endolymphatic sac tumor in the petrous bone. Patients were graduated according to Karnofsky Performance Status (KPS) at admission, at discharge and during the last follow up visit. Genetic testing revealing the presence of a VHL disease-causing mutation was a prerequisite for inclusion in the study. RESULTS: Nineteen individuals (95%) were symptomatic. Symptomatic hemangioblastomas were associated with a cyst or a syrinx in 22/27 circumstances (81%). Total removal, as confirmed by postoperative magnetic resonance imaging (MRI), was achieved in all but one lesion. Following surgery, at follow-up (38+/-20 months), patients improved their neurological status in 75% of cases, 20% remained stable and 5% worsened; 16 patients (80%) are able to carry on normal activity with or without minor symptoms, 3 patients require some grade of assistance, 1 patient died because of bronchopneumonia. CONCLUSION: VHL-associated hemangioblastomas generally affect a young adult population and can be successfully removed, either when symptomatic, or when they reach a critical volume. Microsurgery of hemangioblastomas has a favourable impact on survival and quality of life of VHL patients, although it is strongly influenced by preoperative conditions. Transient surgical complications are possible, particularly with brainstem and spinal cord hemangioblastomas.

ASPicDB: a database resource for alternative splicing analysis.

MOTIVATION: Alternative splicing has recently emerged as a key mechanism responsible for the expansion of transcriptome and proteome complexity in human and other organisms. Although several online resources devoted to alternative splicing analysis are available they may suffer from limitations related both to the computational methodologies adopted and to the extent of the annotations they provide that prevent the full exploitation of the available data. Furthermore, current resources provide limited query and download facilities. RESULTS: ASPicDB is a database designed to provide access to reliable annotations of the alternative splicing pattern of human genes and to the functional annotation of predicted splicing isoforms. Splice-site detection and full-length transcript modeling have been carried out by a genome-wide application of the ASPic algorithm, based on the multiple alignments of gene-related transcripts (typically a Unigene cluster) to the genomic sequence, a strategy that greatly improves prediction accuracy compared to methods based on independent and progressive alignments. Enhanced query and download facilities for annotations and sequences allow users to select and extract specific sets of data related to genes, transcripts and introns fulfilling a combination of user-defined criteria. Several tabular and graphical views of the results are presented, providing a comprehensive assessment of the functional implication of alternative splicing in the gene set under investigation. ASPicDB, which is regularly updated on a monthly basis, also includes information on tissue-specific splicing patterns of normal and cancer cells, based on available EST sequences and their library source annotation. AVAILABILITY: www.caspur.it/ASPicDB

Intraventricular hemorrhage caused by peripheral anterior choroidal artery aneurysm rupture. A case report.

Intraventricular hemorrhage is a severe ictal event secondary to several pathological conditions (anticoagulation therapies, hypertension, post-surgical, traumatic, neoplastic, vascular malformations), leading to blockage of CSF flow and possible hydrocephalus, often justifying surgical intervention. We describe an uncommon source of intraventricular hemorrhage in a 54-year-old woman caused by a peripheral anterior choroidal artery aneurysm rupture.

Tongue lesions and isolated hypoglossal nerve palsy: a case report.

We report the case of a patient with oral lesions on the upper surface of his tongue. Intraoral examination revealed marked right-sided hemiatrophy of the tongue with fasciculation, partial deviation of the tongue on the right side, and inability of the patient to completely deviate the tongue toward the left side of his mouth on protrusion. A magnetic resonance image showed presence of a tumor lesion characterized by irregular margins localized in the intradural space, with a lateral extension along the omolateral hypoglossal canal. This was consistent with the diagnosis of a hypoglossal neurinoma, later confirmed by the histopathologic examination.

[Differences in the prevalence of work related disorders among construction workers between the end of 90s and 2006]. / Differenze nella prevalenza di malattie professionali in edilizia tra la fine degli anni '90 ed il 2006.

The aim of this work is to analyse the prevalence of occupational diseases in construction industry, comparing the results of the first years of health surveillance (1996-2000) and today's situation. We compare the prevalence of occupational diseases observed in 1348 workers during the period 1996-2000 (mean age 36,4 years, DS 11,8; mean experience in construction industry 16,9 years, DS 12,3) and the one observed in 795 different workers during 2006 (mean age 38,8 years, DS 11,1; mean experience in construction industry 18 years, DS 16,6). The prevalence of occupational diseases is respectively 12.09% and 12.83%. But analysing the single pathology it's possible to observe important differences between the two groups. In the workers observed in 2006 there is a significant reduction in prevalence of hearing loss caused by chronic exposure to noise and in prevalence of vascular disease caused by hand-arm vibrations: respectively from 94,9 to 79,2 cases/1000 workers and from 6,7 to 2.6 cases/1000 workers. Musculoskeletal diseases instead are increased from 11,1 to 37,7 cases/1000 workers, showing more attention to the problem, better diagnostics ability and more recognition by public insurance agency for occupational diseases.

The localization of facial motor impairment in sporadic Möbius syndrome.

OBJECTIVE: To investigate the neurophysiologic aspects of facial motor control in patients with sporadic Möbius syndrome defined as nonprogressive congenital facial and abducens palsy. METHODS: The authors assessed 24 patients with sporadic Möbius syndrome by performing a complete clinical examination and neurophysiologic tests including facial nerve conduction studies, needle electromyography examination of facial muscles, and recording of the blink reflex and of the trigeminofacial inhibitory reflex. RESULTS: Two distinct groups of patients were identified according to neurophysiologic testing. The first group was characterized by increased facial distal motor latencies (DMLs) and poor recruitment of small and polyphasic motor unit action potentials (MUAPs). The second group was characterized by normal facial DMLs and neuropathic MUAPs. It is hypothesized that in the first group, the disorder is due to a rhombencephalic maldevelopment with selective sparing of small-size MUs, and in the second group, the disorder is related to an acquired nervous injury during intrauterine life, with subsequent neurogenic remodeling of MUs. The trigeminofacial reflexes showed that in most subjects of both groups, the functional impairment of facial movements was caused by a nuclear or peripheral site of lesion, with little evidence of brainstem interneuronal involvement. CONCLUSION: Two different neurophysiologically defined phenotypes can be distinguished in sporadic Möbius syndrome, with different pathogenetic implications.

[First aid training in collaboration with CPT and CPTA of Bergamo]. / Realizzazione di corsi di primo soccorso in collaborazione con CPT e CPTA di Bergamo.

In this work it's briefly described the experience in planning and realizing of first aid at work courses for workers of the building trade, realized by the UOOML in collaboration with CPT and CPTA of Bergamo. In particular this is a report of the activity of planning and realization of courses in the months from February till September 2004.

[Assessment of the efficiency of the first aid course among construction companies in the Province of Bergamo]. / Valutazione dell'efficacia del corso di Primo soccorso in addetti di imprese edili della bergamasca.

The aim of this project is to value, through a specific questionnaire, the effectiveness and utility of the professional training among the construction workers responsible of the First Aid. 48 construction firms, in Province of Bergamo, were examined and 100 first aid responsible were tested through to the questionnaire. The 21% of the subjects performed a practical first aid intervention. The 84% considers the professional training courses to be globally satisfactory, and one third underlines the necessity of an annual refresher course. This study tends to confirm the validity of this program of professional training, particularly in the construction trade, that is characterized by a high accidents rate.

[Efficacy of periodic health surveillance of construction workers visited at the CPT of Bergamo]. / Considerazioni sull'efficacia della sorveglianza sanitaria periodica di lavoratori edili visitati presso il CPT di Bergamo.

The aim of this work is to expose the results obtained with the application of a model about efficacy in occupational medicine proposed by ALMLII. In particular we discuss the validity of some indicators of efficacy used in a large group of construction workers during health surveillance, in order to verify effectiveness and appropriateness of an occupational medicine service, as a part of the whole prevention and safety system.

Pathological yawning as a presenting symptom of brain stem ischaemia in two patients.

Two cases of brain stem stroke involving the upper pons and the ponto-mesencephalic junction presented with transient excessive pathological yawning, associated with gait ataxia and in one subject with upper limb and facial hemiparesis. A causal relation is hypothesised between the brain stem lesion and pathological yawning, possibly related to denervation hypersensitivity of a putative brain stem yawn centre. Excessive yawning may herald brain stem ischaemia.

[Variation of the judgment of the fitness to specific work in a cohort study in construction industry]. / Variazione del giudizio di idoneità lavorativa alla mansione specifica in uno studio longitudinale di una popolazione edile.

This work shows the results of a study about variation of the judgement of the fitness to specific work in the construction industry in a year. In the 8.6% of the cases, after a year from the previous examination, it was necessary to express new limitations to the job activity mainly because of the presence of illness of the musculoskeletal or cardiovascular system. Considering only workers aged over 35 years, the percentage of variation after a year grows to 12.3%.