Mario Mosconi

Risk of dissection in thoracic aneurysms associated with mutations of smooth muscle alpha-actin 2 (ACTA2)

Objective To evaluate the prevalence and phenotype of smooth muscle alpha-actin (ACTA2) mutations in non-syndromic thoracic aortic aneurysms and dissections (TAAD). Design Observational study of ACTA2 mutations in TAAD. Setting Centre for Inherited Cardiovascular Diseases. Patients A consecutive series of 100 patients with TAAD. Exclusion criteria included genetically confirmed Marfan syndrome, Loeys–Dietz type 2, familial bicuspid aortic valve and Ehlers–Danlos type IV syndromes. Interventions Multidisciplinary clinical and imaging evaluation, genetic counselling and testing of ACTA2, and family screening. Main outcome measures Prevalence of ACTA2 mutations and corresponding phenotypes. Results TAAD was familial in 43 cases and sporadic in 57 cases. Five mutations in the familial TAAD group (12%) were identified that were absent in controls. The known p.Arg149Cys and the novel p.Asp82Glu, p.Glu243Lys and p.Val45Leu mutations affected evolutionarily conserved residues. The IVS4+1G>A mutation was novel. Of 14 affected relatives, 13 were carriers of the mutation identified in the corresponding proband while one deceased relative had no genetic test. Type A dissection was the first manifestation of aortic aneurysm in four probands and occurred unexpectedly in five relatives. The aortic aneurysm was age dependent and absent in mutated children. Of nine patients who had acute dissection, five died following surgery. At dissection, the size of the aortic aneurysm ranged from 40 mm to 95 mm. Extravascular, ocular, skeletal, nervous and pulmonary traits were variably associated with TAAD, with iris flocculi being most common. Conclusions Timely diagnosis of TAAD in the probands, genetic counselling and family screening identify predisposed relatives and prevent catastrophic aortic dissections.

Use of capacitive coupled electric fields in stress fractures in athletes

The authors report the results of an open study on the treatment of stress fracture in athletes by capacitive coupling, a bone healing stimulation method promoting bone formation by application of alternating current in the form of a sinusoidal wave. Twenty-five lower-limb (navicular, 2nd and 5th metatarsal, tibia, fibula, and talus) stress fractures in 21 athletes (mean age, 21.8 years old) were treated. The mean stimulation time was 52 days (navicular fractures, 60 days). Twenty-two fractures were healed, 1 was not healed, and 2 were improved. This preliminary report shows that capacitive coupling can be used safely in the treatment of these stress fractures.

Treatment of femoral diaphyseal non-unions: Our experience

Despite the continuous advances of surgical solutions, still 1-7% of fractures develop non-unions. The delays in fracture healing increase the period of incapacity of the patient with major consequences, on the psychological and functional recovery, but also on the direct and indirect health-related costs. In particular, femoral diaphyseal non-unions are often characterised by a challenging and long-lasting period of healing. The clinician treating these complex cases has to consider amongst other parameters, the condition of the soft tissue envelope, the adequacy of any pre-existing fixation, the alignment and length of the affected limb, the potential presence of an infection, as well as the general condition of the patient. Open reduction and plate fixation of femoral diaphyseal non-unions offers a valid alternative of stabilisation and if applied to carefully selected cases, can give optimal results.

Fetal neural tube defects in pregnant women previously submitted to bariatric surgery: more attention to a new emerging entity

Department of Pediatric Surgery, IRCCS Policlinico San Matteo Foundation and University of Pavia, Italy Department of Obstetrics and Gynecology, University of Pavia, IRCCS Policlinico San Matteo Foundation, Italy Department of Public Health, Neurosciences, Experimental and Forensics Medicine-Section of Human Nutrition, University of Pavia, Italy Department of Neurosurgery, IRCCS Policlinico San Matteo Foundation, Pavia, Italy Clinic of Orthopaedics and Traumatology, IRCCS Policlinico San Matteo Foundation and University of Pavia, Italy Department of Neuradiology, IRCCS Policlinico San Matteo Foundation Pavia, Italy Department of Internal Medicine University of Pavia and Department of Pediatrics, IRCCS Policlinico San Matteo Foundation Pavia, Italy *Correspondence to: Gloria Pelizzo. E-mail: g.pelizzo@smatteo.pv.it

Pseudoarthrosis of second metatarsal fracture

Metatarsal fractures make up the greatest portion of foot fractures in children. Most of them are treated with closed reduction and non-weightbearing cast immobilization.Usually, these fractures heal uneventfully and delay union and pseudoarthrosis are rare. We report a case of a 10-year-old child with non-union of the second metatarsal following a traumatic fracture, caused by an accident 10 months before, and treated successfully by osteosynthesis with plate and screws. Good clinical outcome was achieved at 2 years follow-up.

Transient femoral nerve palsy in spica cast treatment for developmental dysplasia of the hip

A 4 months and half female child come to our attention for congenital dislocation of the left hip, previously treated in another hospital with abduction bracing, without satisfactory results. After progressive longitudinal bilateral traction, closed reduction under general anesthesia was performed and a spica cast was applied in the so-called human position. The patients remained in the spica cast for 6 weeks and then the plaster cast was renewed in narcosis for another 6 weeks. Once the second cast has been removed left femoral nerve palsy was detected. Orthopaedic treatment was interrupted and in 3 months the nerve completely recovered, while the hip was still stable. We followed the child regularly since then, she is now five years old, she is totally asymptomatic, X-rays shows a residual acetabular dysplasia, with no sign of avascular necrosis.

Mixoma juxta-articolare in età pediatrica: case report

Il mixoma juxta-articolare e un tumore benigno raro che si localizza preferenzialmente a livello delle grandi articolazioni. Presentiamo un caso di un ragazzo di 12 anni che si caratterizza per peculiarita relative a eta di insorgenza, localizzazione, dimensione della massa e sintomatologia associata.

Pain Management in Total Knee Arthroplasty

Pain control is an essential aspect of surgery. Deep knowledge of pain pathophysiology is essential to improve the result of surgery. This paper analyses some of the mechanisms that lead to pain and proposes for each of them a treatment based on specific patterns.

PRGF in the Cartilage Defects in the Knee Joint

In the last few years the improvements of biotechnology allowed the development of new techniques for the stimulation and the acceleration of tissue healing and bone regeneration, particularly of platelet-rich therapies. The progressive knowledge of the tissuetal phases after a traumatic injury showed the role of a range of growth factors and cytokines, secreted by serum and degranulating platelets, in the repair process. Every growth factor such as PDGF, TGF-beta, IGF-1 and VEGF has a specific function, but for the healing of the tissue the release of the pool of these growth factors is important. The platelets may be considered like a reservoir of growth factors; among the platelet-rich preparations, the importance of platelet release growth factor (PRGF) was given by their versatility. The effect of these preparations is not only mytogenic, but also an angiogenic effect, antibacterial and anti-inflammatory. In clinical fields, PRGF, often associated to some biomaterials, can be used for the treatment of chronic ulcers and for bone and soft tissue regeneration. Particularly in orthopaedic field, PRGF accelerate healing process and avoid further degeneration of the bone, the cartilage, the tendons and the ligaments. For example, platelet-rich preparations can be used during a tendon suture or a ligament reconstruction (ACL) or, finally, for the treatment of tissue avascular like the cartilage with the purpose of an acceleration in functional recovery. The arthroscopic repair of chondral lacerations or meniscus tears represents the future step of these versatile preparations.

Reflex Sympathetic Dystrophy Syndrome in gravidanza: una diagnosi di difficile inquadramento. Case report

La reflex sympathetic dystrophy syndrome e una artropatia dolorosa associata a turbe trofiche locoregionali dei capi ossei e dei tessuti molli circostanti, la cui forma poliarticolare risulta particolarmente rara. L’artropatia interessa quasi esclusivamente gli arti inferiori con una prevalenza netta per le articolazioni coxo-femorali, potendo tuttavia interessare le articolazioni del ginocchio e della caviglia, mentre un solo caso di interessamento degli arti superiori e riportato in letteratura. Clinicamente la sindrome si presenta con dolore ed impotenza funzionale di vario grado associate ad alterazioni cutanee e del microcircolo. Le principali complicanze sono rappresentate dalle frequenti fratture. La aspecificita del quadro e la condizione di gravidanza limitano il ricorso alle indagini radiologiche. La RMN risulta l’indagine di scelta con un quadro patognomonico caratterizzato da edema midollare ed osteopenia. Il trattamento in gravidanza si avvale del riposo con arto in scarico, della terapia analgesica e della terapia fisica, demandando al post-partum la farmaco-terapia specifica. Noi riportiamo il caso di una primipara di 46 anni che nel corso del terzo trimestre di gravidanza ha presentato una forma di RSDS trattata con successo con magnetoterapia e fisiokinesiterapia e che nel post-partum ha avuto una riesacerbazione della sindrome.