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Background: Hereditary myosin myopathies are a group of rare muscle disorders, caused by mutations in genes encoding for skeletal myosin heavy chains (MyHCs). MyHCIIa is encoded by MYH2 and is expressed in fast type 2A and 2B muscle fibers. MYH2 mutations are responsible for an autosomal dominant (AD) progressive myopathy, characterized by the presence of rimmed vacuoles and by a reduction in the number and size of type 2A fibers, and a recessive early onset myopathy characterized by complete loss of type 2A fibers. Recently, a patient with a homozygous mutation but presenting a dominant phenotype has been reported. Methods: The patient was examined thoroughly and two muscle biopsies were performed through the years. NGS followed by confirmation in Sanger sequencing was used to identify the genetic cause. Results: We describe the second case presenting with late‐onset ophthalmoparesis, ptosis, diffuse muscle weakness, and histopathological features typical for AD forms but with a recessive MYH2 genotype. Conclusion: This report contributes to expand the clinical and genetic spectrum of MYH2 myopathies and to increase the awareness of these very rare diseases. [ABSTRACT FROM AUTHOR]

Introduction: We investigated the possible role of intercostal surgical neurolysis in relieving chronic neuropathic pain refractory to other nonsurgical treatments in patients with postsurgical thoracic pain.Methods: We retrospectively collected clinical data on patients referred to the Neurosurgery Unit of Policlinic Hospital of Milan. Ten patients (age range, 20-68 years) suffering from neuropathic pain for at least 2 months after thoracic surgery underwent intercostal neurolysis.Results: Compared with preneurolysis, pain intensity decreased 1 month postneurolysis and remained stable 2 months postneurolysis (median score [interquartile range]: 8 [6-9] preneurolysis, 4 [3-5] 1 month after, and 3 [2-5] 2 months after, P < 0.001). Antiepileptic drugs for pain control decreased after neurolysis.Discussion: Surgical intercostal neurolysis may be a promising therapeutic option in patients with chronic neuropathic pain associated with neurological deficits. Muscle Nerve 58: 671-675, 2018. [ABSTRACT FROM AUTHOR]

Platelets can serve as general markers of mitochondrial (dys)function during several human diseases. Whether this holds true even during sepsis is unknown. Using spectrophotometry, we measured mitochondrial respiratory chain biochemistry in platelets and triceps brachii muscle of thirty patients with septic shock (within 24 hours from admission to Intensive Care) and ten surgical controls (during surgery). Results were expressed relative to citrate synthase (CS) activity, a marker of mitochondrial density. Patients with septic shock had lower nicotinamide adenine dinucleotide dehydrogenase (NADH)/CS (p = 0.015), complex I/CS (p = 0.018), complex I and III/CS (p<0.001) and complex IV/CS (p = 0.012) activities in platelets but higher complex I/CS activity (p = 0.021) in triceps brachii muscle than controls. Overall, NADH/CS (r2 = 0.00; p = 0.683) complex I/CS (r2 = 0.05; p = 0.173), complex I and III/CS (r2 = 0.01; p = 0.485), succinate dehydrogenase (SDH)/CS (r2 = 0.00; p = 0.884), complex II and III/CS (r2 = 0.00; p = 0.927) and complex IV/CS (r2 = 0.00; p = 0.906) activities in platelets were not associated with those in triceps brachii muscle. In conclusion, several respiratory chain enzymes were variably inhibited in platelets, but not in triceps brachii muscle, of patients with septic shock. Sepsis-induced mitochondrial changes in platelets do not reflect those in other organs. [ABSTRACT FROM AUTHOR]

Background: The aim of this study was to achieve a consensus on the minimum set of outcome measures and predictors to be used in the neurosurgical practice and on the timing of outcome assessment., Methods: A consensus building approach was employed. All neurosurgical departments in Lombardy (Italy) were invited to participate by the Carlo Besta Neurologic Institute IRCCS Foundation. Three workshops were organized during which a multidisciplinary group called Neurosurgical Outcome Network (NEON) was created and the methodology to select outcome measures, predictors, and timing of outcome assessment was established. Eight working groups were created for the different neurosurgical diseases (neuro-oncological, skull base, vascular, traumatic, spinal, peripheral nervous system, malformation, functional) and 8 workshops were organized to identify the outcome measures and predictors specific for each of the neurosurgical diseases based on the experts' clinical practice and the existing literature., Results: A total of 20 neurosurgical departments participated in this study. Specific outcome measures, predictors and the timing of outcome assessment were identified for each of the 8 neurosurgical diseases. Moreover, a list of variables common to all pathologies were identified by the NEON group as further data to be collected., Conclusions: A consensus on the minimum set of outcome measures and predictors and the timing of outcome assessments for 8 neurosurgical diseases was achieved by a group of neurosurgeons of the Lombardy region, called NEON. These sets could be used in future studies for a more homogeneous data collection and as a starting point to reach further agreement also at national and international level.

Background: The aim of this paper is to report the results of our review of the literature of published cases of intracranial aneurysms appearing after radiotherapy, and to present our case to add it to the current literature, in order to discuss the role of inflammation., Methods: We searched the PubMed database using combinations of the following MeSH terms: intracranial aneurysm, radiosurgery, radiotherapy, inflammatory changes in aneurysmal walls from 1967 to 2019., Results: 51 studies, for a total cohort of 60 patients, are described. The median latency between the radiation treatment and the diagnosis was 9,83 years, ranging from a minimum of 0,33 to a maximum of 33. The modality of rays' administration was variable, and the dosage ranged from a minimum of 12 grays to a maximum of 177,2 grays. The anterior circulation appeared to be more frequently involved, and the most compromised vessel was the internal carotid artery. Radiation-induced vascular diseases have already been described in literature as well as RT-induced cellular and structural changes such as necrosis, macrophage or mononuclear cell infiltration, and several data support the role of inflammation in the development and remodelling of intracranial aneurysms, that, on one hand, favours them and, on the other, is necessary to their healing after endovascular treatment., Conclusions: Our team suggested a new insight in the management of these vascular lesions, which corresponds to a lower threshold when deciding whether or not to treat, and a longer and stricter follow-up.

We previously developed a collagen tube filled with autologous skin-derived stem cells (SDSCs) for bridging long rat sciatic nerve gaps. Here we present a case report describing a compassionate use of this graft for repairing the polyinjured motor and sensory nerves of the upper arms of a patient. Preclinical assessment was performed with collagen/SDSC implantation in rats after sectioning the sciatic nerve. For the patient, during the 3-year follow-up period, functional recovery of injured median and ulnar nerves was assessed by pinch gauge test and static two-point discrimination and touch test with monofilaments, along with electrophysiological and MRI examinations. Preclinical experiments in rats revealed rescue of sciatic nerve and no side effects of patient-derived SDSC transplantation (30 and 180 days of treatment). In the patient treatment, motor and sensory functions of the median nerve demonstrated ongoing recovery postimplantation during the follow-up period. The results indicate that the collagen/SDSC artificial nerve graft could be used for surgical repair of larger defects in major lesions of peripheral nerves, increasing patient quality of life by saving the upper arms from amputation.

Objective: Peripheral nerve sheath tumors (PNSTs) are tumors arising from the neural sheath cells. Surgery plays a central role in the management of this disease, with the purpose of obtaining radical tumor's resection and at the same time providing the best outcome. We retrospectively analyzed 53 PNSTs in 42 patients in an attempt to identify some factors that may improve surgical outcome., Material and Methods: Clinical, histologic, and imaging data of 42 patients with PNSTs treated at our Institute between 2001 and 2012 were collected and analyzed. We evaluated the outcome 1 month and 6 month after surgery using three clinical parameters (pain, motor deficits, and sensory deficits) in relation to different histotypes, the presence of neurofibromatosis type 1, tumor location, and duration of symptoms before treatment., Results: The best functional results were observed in patients having neurofibromas; the worst outcomes were observed in patients with malignant PNSTs. The other factors were not associated with outcome., Conclusion: The timing of surgery is the most important predictive factor of surgical outcome, being the only factor that allows to improve the outcome. With the current study, we want to stress the importance of treating PNSTs as soon as possible to provide the best outcome possible., (Georg Thieme Verlag KG Stuttgart · New York.)