Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia.

BACKGROUND AND PURPOSE: Dominantly inherited GAA repeat expansions in the fibroblast growth factor 14 (FGF14) gene have recently been shown to cause spinocerebellar ataxia 27B (SCA27B). We aimed to study the frequency and phenotype of SCA27B in a cohort of patients with unsolved late-onset cerebellar ataxia (LOCA). We also assessed the frequency of SCA27B relative to other genetically defined LOCAs. METHODS: We recruited a consecutive series of 107 patients with LOCA, of whom 64 remained genetically undiagnosed. We screened these 64 patients for the FGF14 GAA repeat expansion. We next analysed the frequency of SCA27B relative to other genetically defined forms of LOCA in the cohort of 107 patients. RESULTS: Eighteen of 64 patients (28%) carried an FGF14 (GAA)≥250 expansion. The median (range) age at onset was 62.5 (39-72) years. The most common clinical features included gait ataxia (100%) and mild cerebellar dysarthria (67%). In addition, episodic symptoms and downbeat nystagmus were present in 39% (7/18) and 37% (6/16) of patients, respectively. SCA27B was the most common cause of LOCA in our cohort (17%, 18/107). Among patients with genetically defined LOCA, SCA27B was the main cause of pure ataxia, RFC1-related disease of ataxia with neuropathy, and SPG7 of ataxia with spasticity. CONCLUSION: We showed that SCA27B is the most common cause of LOCA in our cohort. Our results support the use of FGF14 GAA repeat expansion screening as a first-tier genetic test in patients with LOCA.

The orthopaedic and traumatology scenario during Covid-19 outbreak in Italy: chronicles of a silent war.

BACKGROUND: From February 21, the day of hospitalisation in ICU of the first diagnosed case of Covid-19, the social situation and the hospitals' organisation throughout Italy dramatically changed. METHODS: The CIO (Club Italiano dell'Osteosintesi) is an Italian society devoted to the study of traumatology that counts members spread in public and private hospitals throughout the country. Fifteen members of the CIO, Chairmen of 15 Orthopaedic and Trauma Units of level 1 or 2 trauma centres in Italy, have been involved in the study. They were asked to record data about surgical, outpatients clinics and ER activity from the 23rd of February to the 4th of April 2020. The data collected were compared with the data of the same timeframe of the previous year (2019). RESULTS: Comparing with last year, overall outpatient activity reduced up to 75%, overall Emergency Room (ER) trauma consultations up to 71%, elective surgical activity reduced up to 100% within two weeks and trauma surgery excluding femoral neck fractures up to 50%. The surgical treatment of femoral neck fractures showed a stable reduction from 15 to 20% without a significant variation during the timeframe. CONCLUSIONS: Covid-19 outbreak showed a tremendous impact on all orthopaedic trauma activities throughout the country except for the surgical treatment of femoral neck fractures, which, although reduced, did not change in percentage within the analysed timeframe.

Fractures and dislocations of the lisfranc tarso-metatarsal articulation: outcome related to timing and choice of treatment.

A Lisfranc injury is when one or more of the metatarsals are displaced from the tarsus. The term is more commonly used to describe an injury to the midfoot, centred on the 2nd tarso-metatarsal joint. These fractures are sometimes easily overlooked, especially if they are part of a polytrauma. They are often difficult to diagnose and treat, but if they go undetected and are not properly treated, they can cause long-term or chronic disability. Our team reviewed a group of 71 patients with a Lisfranc fracture dislocation. The lesions were classified according to Meyerson classification. All the patients were re-evaluated 3 years after their surgeries by clinical examination, Ankle-Hindfoot Scale AOFAS questionnaire, X-rays and baropodometric analysis. This review outlines the treatment outcome of this injury, taking into consideration the timing of diagnosis.

Choice of three different intramedullary nails in the treatment of trochanteric fractures: Outcome, analysis and consideration in midterm.

The purpose of this study is to compare the results obtained using three different systems of osteosynthesis, developed for the surgical treatment of fractures of the trochanteric region of the femur, based on the principle intramedullary nailing: the Gamma nail, the Affixus nail and the ZNN nail. This is a retrospective study: 72 trochanteric fractures treated with the Gamma nail, 68 treated with the Affixus nail and 69 treated with the ZNN nail, between the years 2012 and 2014, with the prerequisite of a minimum follow-up of 18 months. The fractures were classified according to the AO system; the most commonly reported subtype was the A2 fracture. Clinical and radiographic examinations were performed, both at hospital admission and post-operatively, at 1, 3, 6, 12 and 18 months. Of the 209 patients, 171 were women and 38 were men. The average age was 83.12 years old. All three systems guaranteed an early mobilization and ambulation in most of the patients. There were no significant differences in the use of the three nails in terms of recovery of previous functional capacity, or in terms of the time required for the fracture to heal. There were no advantages encountered with the use of one intramedullary nail over another and, in particular, when observing the complications and patient outcome, there were no statistically significant differences detected.

[Gabapentin for spasticity: a randomized, double-blind, placebo-controlled trial]. / Efectividad de la gabapentina en el tratamiento de la espasticidad: estudio aleatorizado, a doble ciego y controlado con placebo.

BACKGROUND AND OBJECTIVE: We aimed to demonstrate the efficacy and safety of gabapentin for the treatment of spasticity in patients with upper motor neuron syndrome. PATIENTS AND METHOD: Thirty patients with pyramidal-tract lesions were randomized to up to 3,600 mg/day of gabapentin (n = 15) or placebo (n = 15) in a double-blind, pilot 10-week trial. The primary efficacy variable was the Ashworth Scale score. Secondary variables included the Spasm Frequency Scale, maximal range of movement, H/M Amplitude Ratio, and the Barthel Index for quality of life. Adverse events were recorded. All data were analyzed on an intent-to-treat basis. RESULTS: Demographic and baseline characteristics were similar between the 2 treatment groups. The gabapentin group showed significant improvement in Ashworth Scale total scores, and scores for individual affected muscle groups. Fifteen of the randomized patients had spasms; the total Spasm Frequency Scale score was not significantly different between groups. Nevertheless, when affected individual muscle groups were analyzed, a significant effect of gabapentin vs placebo was observed at all visits. Gabapentin did not modify the scores of the range of movement, the H/M Amplitude Ratio, or the Barthel Index tests. No gait or displacement impairment were seen during treatment with gabapentin. Related adverse events occurred less frequently in the gabapentin group, and fewer gabapentin patients withdrew because of adverse events. CONCLUSIONS: Gabapentin demonstrated efficacy and safety at doses between 2,700 and 3,600 mg/day as a therapy for the spasticity associated with the upper motor neuron syndrome.

The incidence of hip, forearm, humeral, ankle, and vertebral fragility fractures in Italy: results from a 3-year multicenter study.

INTRODUCTION: We aimed to assess the incidence and hospitalization rate of hip and "minor" fragility fractures in the Italian population. METHODS: We carried out a 3-year survey at 10 major Italian emergency departments to evaluate the hospitalization rate of hip, forearm, humeral, ankle, and vertebral fragility fractures in people 45 years or older between 2004 and 2006, both men and women. These data were compared with those recorded in the national hospitalizations database (SDO) to assess the overall incidence of fragility fractures occurring at hip and other sites, including also those events not resulting in hospital admissions. RESULTS: We observed 29,017 fractures across 3 years, with hospitalization rates of 93.0% for hip fractures, 36.3% for humeral fractures, 31.3% for ankle fractures, 22.6% for forearm/wrist fractures, and 27.6% for clinical vertebral fractures. According to the analyses performed with the Italian hospitalization database in year 2006, we estimated an annual incidence of 87,000 hip, 48,000 humeral, 36,000 ankle, 85,000 wrist, and 155,000 vertebral fragility fractures in people aged 45 years or older (thus resulting in almost 410,000 new fractures per year). Clinical vertebral fractures were recorded in 47,000 events per year. CONCLUSIONS: The burden of fragility fractures in the Italian population is very high and calls for effective preventive strategies.