Seizure outcome after epilepsy surgery in tuberous sclerosis complex: Results and analysis of predictors from a multicenter study.

Epilepsy surgery is recommended in selected patients with Tuberous Sclerosis Complex (TSC). However, reports on predictive factors of seizure outcome are variable. Here we report on seizure and cognitive outcome of 35 TSC patients who received surgery for refractory epilepsy in 7 Italian centers over a period of 22 years (1997-2019). The rate of seizure-free individuals at last follow-up (mean 7.5 years, range 1-21 years) was 51%. Patients with longer follow-up (≥10 years) had a lower rate of Engel I outcome (11.1%) than those who received surgery in the last 10 years (65.4%, p = 0.003). Factors associated with Engel II, III, IV outcome in our cohort included: high number of cortical tubers (≥5); presence of subependymal nodules (SENs); seizure onset before age 1 year; and multifocal interictal epileptic discharges (IEDs) on electroencephalogram (EEG). A subset of patients evaluated with Vineland Adaptive Behaviour Scales (VABS) showed developmental gains, in line with their developmental trajectories, but no improvement in standard scores after surgery was noted. Our study demonstrates that the rates of successful seizure outcome of epilepsy surgery in TSC have improved in the last 10 years. More than half of the patients achieved seizure freedom, and a high proportion of affected individuals experienced a reduction in seizure burden and in antiseizure medications. A comprehensive assessment after surgery should be performed in TSC patients to evaluate the overall neurodevelopmental outcome, as measures that are based only on seizure control do not adequately identify the benefits of surgery on global functioning in these patients.

Effectiveness and tolerability of perampanel in children and adolescents with refractory epilepsies-An Italian observational multicenter study.

PURPOSE: To evaluate the efficacy and tolerability of Perampanel (PER) in children and adolescents with refractory epilepsies in daily clinical practice conditions. PATIENTS AND METHODS: This Italian multicenter retrospective observational study was performed in 16 paediatric epilepsy centres. Inclusion criteria were: (i) ≤18 years of age, (ii) history of refractory epilepsy, (iii) a follow-up ≥5 months of PER add-on therapy. Exclusion criteria were: (i) a diagnosis of primary idiopathic generalized epilepsy, (ii) variation of concomitant AEDs during the previous 4 weeks. Response was defined as a ≥50% reduction in monthly seizure frequency compared with the baseline. RESULTS: 62 patients suffering from various refractory epilepsies were included in this study: 53% were males, the mean age was 14.2 years (range 6-18 years), 8 patients aged <12 years. Mean age at epilepsy onset was 3.4 years and the mean duration of epilepsy was 10.8 years (range 1-16), which ranged from 2 seizures per-month up to several seizures per-day (mean number=96.5). Symptomatic focal epilepsy was reported in 62.9% of cases. Mean number of AEDs used in the past was 7.1; mean number of concomitant AEDs was 2.48, with carbamazepine used in 43.5% of patients. Mean PER daily dose was 7.1mg (2-12mg). After an average of 6.6 months of follow-up (5-13 months), the retention rate was 77.4% (48/62). The response rate was 50%; 16% of patients achieved ≥75% seizure frequency reduction and 5% became completely seizure free. Seizure aggravation was observed in 9.7% of patients. Adverse events were reported in 19 patients (30.6%) and led to PER discontinuation in 4 patients (6.5%). The most common adverse events were behaviour disturbance (irritability and aggressiveness), dizziness, sedation and fatigue. CONCLUSION: PER was found to be a safe and effective treatment when used as adjunctive therapy in paediatric patients with uncontrolled epilepsy.

Turning visual shapes into sounds: early stages of reading acquisition revealed in the ventral occipitotemporal cortex.

The exact role of the left ventral occipitotemporal cortex (VOTC) during the initial stages of reading acquisition is a hotly debated issue, especially regarding the comparative effect of learning on early stimulus-dependent vs. later task-dependent processes. We show that this controversy can be solved with high-temporal resolution intracerebral EEG recordings of the VOTC. We measured High-Frequency Activity (50-150 Hz) as a proxy of population-level spiking activity while participants learned Japanese Katakana symbols, and found that learning primarily affects top-down/task-dependent neural processing, after a few minutes only. In contrast, adaptation of early bottom-up/stimulus-dependent processing takes several days to adapt and provides the basis for fluent reading. Such evidence that two consecutive stages of neural processing, stimulus- and task-dependent are differentially affected by learning, can reconcile seemingly opposite hypotheses on the role of the VOTC during reading acquisition.

Outcome of unstable isolated fractures of the posterior acetabular wall associated with hip dislocation.

BACKGROUND: Traumatic hip dislocation with fracture of the posterior acetabular wall is associated with high rates of residual invalidity. METHODS: The records of patients who underwent surgical treatment of traumatic dislocation of the hip associated with an isolated fracture of the posterior acetabular wall from 1999 to 2009 were reviewed. There were 30 men and 12 women, who at the time of the trauma had a mean age of 42 years (range 21-65). Mean follow-up duration was 5 years (range 2-10). Pre-operative fracture evaluation was based on the classification of Judet et al. which divided this fractures into three types: type 1 is characterized by a single fracture line separating a single bone fragment from the remaining part of the posterior wall; type 2 fracture involves several fragments of the posterior wall and in type 3, a type 1 or type 2 fracture is associated with a sunk cancellous area in the acetabular wall medial to the fracture line but not affected by it, due to the shear impact of the femoral head at the time of dislocation. Clinical evaluation of the outcome was according to the criteria of Merle D'Aubigné and Postel as modified by Matta. Outcomes were divided into excellent/good and fair/poor. Since treatment was standard, data were further analyzed to assess the relative importance of age, sex, follow-up duration, sciatic nerve lesion on admission and mechanism of injury, using the Chi-square test. RESULTS: Full clinical recovery without sequelae or radiographic abnormalities was achieved by 10 patients, 8 with type 1 fracture and 2 with type 2 fracture. A good outcome was seen in 13 patients, 3 with type 1 fracture, 9 with type 2 fracture and 1 with type 3 fracture. Eight patients, 3 with type 2 fracture and 5 with type 3 fracture, had a fair outcome. Only follow-up ≥6 years influenced outcome significantly (p > 0.005). CONCLUSION: Our conclusions in light of our experience are that in type 1 lesions, anatomical reduction and stabilization achieve excellent outcomes, both clinical and radiographic; type 2 fractures pose greater prognostic problems because their outcome is determined by the success of the reduction and fixation of a multi-fragment fracture; finally, different considerations apply to type 3 fractures, which present varying degrees of comminution and an impacted acetabular surface: their outcome depends on the quality of the anatomical and morphological restoration of acetabular congruence.

Involvement of the muscle-tendon junction in skeletal muscle atrophy: an ultrastructural study.

BACKGROUND: The muscle-tendon junction (MTJ) is a physiologically vital tissue interface and a highly specialized region in the muscle-tendon unit. It is the weakest point in the muscle-tendon unit, making it susceptible to strain injuries. Nonetheless, knowledge of the pathological changes affecting this region and of its response to the atrophy process is very limited. The aim of the study was to examine MTJ ultrastructural morphology in patients with different conditions that induce skeletal muscle atrophy and to attempt a grading of the atrophy process. MATERIALS AND METHODS: Fifteen patients undergoing amputation in the distal or proximal third of the lower leg due to chronic or acute conditions were divided into two groups. Specimens of gastrocnemius muscle collected at the time of surgery were analyzed by histology and electron microscopy. The contact between muscle and tendon was measured using a dedicated software that calculated semi-automatically the base (B) and perimeter (P) of muscle cell finger-like processes at the MTJ. RESULTS: Electron microscopy. The cells in the atrophic muscle of the chronic group were shallow and bulky. In the acute group, the myotendinous endings differed significantly in their structure from those of the chronic group. In atrophic muscle, the contact between muscle and tendon was reduced by quantitative and qualitative changes in the myotendinous endings. The B/P ratio allowed definition of three grades of myotendinous ending degeneration. DISCUSSION: It is unclear whether degenerative changes induced by immobilization in muscle and, specifically, the MTJ are temporary and reversible or permanent. CONCLUSIONS: This preliminary study suggested a classification of ultrastructural MTJ changes into grade 0, reflecting a quite normal MTJ; grade 1, an intermediate process that might lead to irreversible atrophy or to recovery, spontaneously or with drug therapy; and grade 2, irreversible process with complete structural alteration.

Open versus percutaneous repair in the treatment of acute Achilles tendon rupture: a randomized prospective study.

There is no agreement on the ideal type of surgical management for Achilles tendon rupture. The present randomized prospective study was performed to compare outcome data of open and percutaneous repair in the treatment of Achilles tendon rupture. Forty consecutive patients with acute rupture of Achilles tendon were recruited. Patients were randomized to receive open (group A) or percutaneous repair with Tenolig (group B). All patients followed the same rehabilitation protocol except for slight differences in the duration of immobilization. Follow-up included objective evaluation (at 4 and 12 months), subjective evaluation using the SF-12 questionnaire (at 24 months), and bilateral ultrasound scanning and isokinetic testing (at 12 months). The differences in the parameters evaluated clinically were not significant except for ankle circumference, which was significantly greater in group B. There were two minor complications in the open repair group and one case of failed repair in the percutaneous group. SF-12 questionnaire, ultrasound and isokinetic test data did not show significant differences between the groups. The present study demonstrates that the open and the percutaneous technique are both safe and effective in repairing the ruptured Achilles tendon and that both afford the same degree of restoration of clinical, ultrasound and isokinetic patterns. Medium-term results were substantially comparable. Percutaneous repair is performed on a day-surgery basis, it reduces cutaneous complications and operation times, and enables faster recovery, enhancing overall patient compliance. To us, these characteristics make it preferable to open repair in managing subcutaneous ruptures of Achilles tendon in non-professional sports practicing adults.

Cost-effectiveness of cemented versus cementless total hip arthroplasty. A Markov decision analysis based on implant cost.

BACKGROUND: Probabilistic decision analysis is a means of reflecting the uncertainty parameter in models and of presenting it in a comprehensible manner to decision-makers. MATERIALS AND METHODS: A cost-effectiveness model was constructed to compare the cementless and cemented total hip prostheses implanted at our department in terms of lifetime costs and quality-adjusted life-years (QALY). Revision rates were obtained from the Orthopaedic Prosthesis Register of the Laboratory of Medical Technology, Istituti Ortopedici Rizzoli, Bologna, Italy. RESULTS: The risk of early revision (at 5 years of follow-up) for cementless and cemented prostheses was 1.6% and 1.4%, respectively, resulting in equal QALY for the two implant types. Analysis of mean cost and QALY indicated that use of either implant is not associated with cost savings. DISCUSSION: Management with cementless or cemented total hip prostheses in a theoretical cohort of 70-year-old patients with fracture of the femoral neck or arthritis involving the hip is not significantly different according to the probabilistic results from the model.

Clinical outcome of closed isolated subtalar dislocations.

INTRODUCTION: Subtalar dislocation (SD) is an uncommon injury accounting for 1-2% of all dislocations. It involves simultaneous disruption of the talocalcaneal and talonavicular joints, without involvement of the calcaneocuboid or tibiotalar joints or talar neck fracture. We present a retrospective study of pure medial and lateral SDs treated conservatively and discuss the pathogenesis, classification, prognostics and therapeutic aspects of SD. MATERIALS AND METHODS: Thirty patients, 24 men and 6 women (mean age 33 years; range 18-55) with closed isolated SD were treated conservatively and re-evaluated at 5-12 years. There were 20 medial and 10 lateral dislocations. All patients were managed with immediate closed reduction under general anaesthesia. Open dislocations and SDs associated with fractures were excluded. RESULTS: The mean AOFAS Ankle-Hindfoot score was 78.8. Seven patients (all with medial SDs) had an AOFAS score of 100; 14 patients (11 with medial and 3 with lateral SD) had a mean AOFAS score of 85; 6 patients (three with medial and three with lateral SD) had a mean AOFAS score of 65; and 3 patients (all with lateral SDs) had a mean AOFAS score of 28. The latter patients subsequently underwent subtalar fusion, with a fair outcome. The mean AOFAS scores of patients with lateral and medial SD were not significantly different (P = 0.05). CONCLUSION: Various factors adversely affect outcome, including type of dislocation (lateral/medial, open/closed), severity of the injury, associated fractures, length of immobilization. Management of closed isolated SD is by immediate conservative treatment in order to avoid or reduce the incidence of early soft-tissue and vascular complications and poor long-term outcomes due to post-traumatic arthritis, talus necrosis and subtalar joint stiffness. However, complications may still arise despite correct treatment.

Collagenous fibroma of the deltoid muscle: clinical, surgical and histopathological aspects.

We report the case of a 66-year-old woman with a tumorous swelling of the right shoulder of approximately 6 months' duration with morphological features consistent with desmoplastic fibroblastoma or collagenous fibroma, a benign fibrous soft tissue tumor with distinct clinico-pathological features. Clinical history, radiological and pathological findings are presented and other cases of collagenous fibroma with unusual location are discussed.

Muscle involvement in rheumatoid arthritis: an ultrastructural study.

An electron microscopic investigation has been carried out on muscle bioptic samples from patients affected by rheumatoid arthritis (RA). This study was undertaken to seek further ultrastructural alterations affecting striated muscles in RA pathology. Bioptic samples were collected on a total of 30 surgical interventions of hip (10), knee (8), and foot (12). This yielded three muscle types: gluteus maximus, vastus lateralis, and extensor digitorum communis. Muscle samples from 12 patients with no RA stigmata, selected to match RA patients by age and gender, constituted the control group. Tissue samples were prepared both for conventional histochemical methods and according to conventional electron microscopic procedures, including morphometric analysis. Although to a different extent in each sample, in muscles from RA vs. controls the authors observed the simultaneous presence of discrete muscular alterations such as wider separation of myofibrils, myelin figures, dilated sarcotubular system, pleomorphic mitochondria, myofibril flaking, and lipofuscin deposition in the subsarcolemmal region. In addition to a progressive atrophy, the above findings are suggestive of rheumatoid myositis and lend further support to the still poorly documented presence of an idiopathic inflammatory myopathy and inclusion body myositis associated with RA.

Coxa pedis dysplasia in congenital convex pes valgus.

A dissection was carried out on bilateral congenital convex pes valgus in a newborn who died of congenital visceral malformations. The main finding was a modification in the neck-body relations of the talus. Nearly all muscles showed morphologic alterations. No insertional or histologic anomalies were shown. The plantar calcaneonavicular ligament was stretched and attenuated. The alterations observed in our case affected all the anatomic structures forming and stabilizing the coxa pedis. Our case suggests that the dysplastic evolution of the talar body-neck angle halts, and the neck assumes an adducted, medially inclined and plantar-tilted angle with respect to the talar body. We propose the term "congenital dysplasia of the coxa pedis" to describe this condition, because it emphasizes the primary alteration in the morphogenesis of the talocalcaneonavicular joint.

Sporadic ulcerative-mutilating acropathy of the foot. Features and therapeutic indications.

Ulcerative-mutilating acropathy occurs as an inherited (Thévenard's disease) and a sporadic (Bureau-Barrière syndrome) variant. We report a retrospective study in nine patients with the sporadic variant. All nine had painless foot ulcers with trophic disorders and severe skeletal alterations. Electrodiagnostic testing showed polyneuropathy with sensory disorders in seven patients. Motor conduction velocity was normal. Radiological changes were confined to the lower limbs. The clinical course and treatment of sporadic ulcerative-mutilating acropathy are presented.

Plantar fibromatosis: an immunohistochemical and ultrastructural study.

The analogies between plantar fibromatosis and Dupuytren's disease (palmar fibromatosis) are well known. The latter is clinically more frequent and has been the object of extensive immunohistochemical and ultrastructural studies, with a view to investigating its pathogenesis. By contrast, such data on plantar fibromatosis are quite scarce. A histochemical, immunohistochemical, and ultrastructural study was performed on nodule tissue from six patients who were subjected to total fasciectomy for plantar fibromatosis. The study of myofibroblasts revealed features suggestive of their fibroblastic origin and evidenced a cytoskeleton and an extracellular filamentous system that could enable myofibroblasts to generate and exert the intracellular forces that contribute to the contraction of the aponeurosis. These aspects are similar to those observed in Dupuytren's disease and seem to lend support to the theory that the two diseases are expressions of the same disorder.

Zanoli's procedure for overlapping fifth toe: retrospective study of 18 cases followed for 4-17 years.

Digitus quintus superductus pedis (overlapping fifth toe) is a congenital deformity, often bilateral, in which the fifth toe is medially directed, rotated and hyperextended. There is no consensus regarding the best treatment. We describe our experience using Zanoli's procedure, which is a tenodesis procedure using the extensor tendon of the fifth toe. Between 1979 and 1993, we operated on 16 patients (7 bilateral, total 23 feet). 13 (10 women) patients (18 feet), with a mean age of 26 (19-40) years, were seen on follow-up. The mean follow-up time was 8 (4-17) years. Pain relief was achieved in all patients. From the surgeon's point of view, 3 toes overcorrected due to technical errors were considered unsatisfactory. All patients, however, were satisfied with the result and would advise other patients to undergo the same operation.

Monoclonal gammopathy of the immunoglobulin A class in a two-year-old girl with ataxia telangiectasia.

Ataxia telangiectasia is an autosomal recessive neurologic disorder which is frequently associated with a deficiency of IgA immunoglobulin. We report an unusual case of monoclonal gammopathy of the IgA kappa type in a 2-year-old female patient newly diagnosed with ataxia telangiectasia. Quantitative analysis of the patient's immunoglobulins revealed a marked elevation in the IgA fraction with a value of 672 mg/dL (normal 14-123 mg/dL). The IgG and IgM fractions were normal. Serum protein electrophoresis showed a band of restricted mobility present in the gamma region, which was identified as a monoclonal IgA kappa immunoglobulin on immunofixation electrophoresis. This is the first case report of a patient with ataxia telangiectasia associated with an IgA monoclonal gammopathy.

The modified Jones procedure for pes cavovarus with claw hallux.

The purpose of this study is to describe long-term outcomes of the modified Jones procedure for pes cavovarus with claw hallux deformity. Jones originally described an isolated transfer of the extensor hallucis longus tendon. However, this technique does not correct and stabilize the claw hallux deformity. Therefore, this operation has been modified to include arthrodesis of the interphalangeal joint of the hallux, distal stump tenodesis of extensor hallucis longus with brevis tendon, and osteotomy of the base of the first metatarsal in cases of fixed or structural deformity. Twenty-four feet in twenty-one patients were evaluated with a 4-year average follow-up. Results were rated as good, fair, of poor based on correction of deformity, absence of pain, and metatarsophalangeal joint motion. Poor results were observed in 21% of feet and were related to first metatarsal dorsiflexion, pseudoarthrosis of interphalangeal joint fusion, and recurrent pain under the first metatarsal head.

Anatomy of the Lisfranc joint complex.

The authors studied the Lisfranc joint complex using gross dissection and examination of anatomical sections of frozen samples in the frontal and sagittal planes. They distinguished a medial compartment, a central compartment, a lateral compartment, the secondary joint line, and the connections with the cuneoscaphoid articulation. The ligaments were divided on the basis of topography (dorsal, interosseous, and plantar) and course (longitudinal, oblique, and transverse). The dorsal and plantar ligaments reinforce the articular capsules. The interosseous ligaments are the strongest. A common characteristic of these ligaments is that they vary considerably in course, number, and insertions.

Regnauld procedure in the surgical treatment of metatarsalgia: interpretation of follow-up X-ray imaging.

In lesser ray metatarsalgia (rays 2 through 5) due to an altered Lelievre's metatarsal formula (depending on the respective lengths of the metatarsals), the resection of metatarsal heads aims at restoring a correct metatarsal support. This being a destructive procedure, metatarsal head resection is best indicated in the treatment of severe forefoot deformities such as those resulting from rheumatoid arthritis. In all metatarsalgias that recognize biomechanical origin, the enclavement procedure, according to Regnauld's original report, should be preferred. The aim of this study is analysis of the radiographic evolution of the metatarsal epiphysis following the Regnauld procedure on the basis of anatomic and pathological events occurring during the attachment process. The procedure was performed on 31 feet and the patients were followed-up for 24 months postoperatively. The enclavement process evolved favorably in all cases. It consists of four anatomic/pathologic phases corresponding to typical radiographic features. While graft consolidation is achieved in 3 to 4 months postoperatively, complete recovery of the metatarsal bony architecture and functional adaptation requires 18 to 24 months.

Subungual exostosis of the foot.

Eleven subungual exostoses of the foot (10 on the hallux, 1 on the third toe) were studied. The initial symptom was subungual pain. When a subungual mass of fibrous tissue appeared, the nail was pushed up and in one case the mass became infected. X-rays exhibited a bone mass protruding from the terminal phalanx on the dorsomedial aspect of the toe in all cases. All patients underwent surgical excision of the lesions with partial onychectomy. Three layers were identified in five cases: a cap of fibrous tissue, a middle zone of hyaline cartilage with enchondral ossification, and a deep zone of cancellous bone. In three other cases, the histological pattern was pleomorphic and poorly characterized. The study shows that most subungual bone masses exhibited the pathological features of conventional osteochondromas. Nonetheless, a small number of lesions were pleomorphic and differed from osteochondromas, with abundant fibrous tissue merging irregularly into scattered islets of cartilage that was not organized in columns. Radical excision of the mass achieved complete relief of symptoms and recovery without recurrences in all cases.