Publications by authors named "Silvio Boero"

22 Publications

  • Page 1 of 1

International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia.

Nat Rev Endocrinol 2021 Nov 26. Epub 2021 Nov 26.

Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.

Achondroplasia, the most common skeletal dysplasia, is characterized by a variety of medical, functional and psychosocial challenges across the lifespan. The condition is caused by a common, recurring, gain-of-function mutation in FGFR3, the gene that encodes fibroblast growth factor receptor 3. This mutation leads to impaired endochondral ossification of the human skeleton. The clinical and radiographic hallmarks of achondroplasia make accurate diagnosis possible in most patients. However, marked variability exists in the clinical care pathways and protocols practised by clinicians who manage children and adults with this condition. A group of 55 international experts from 16 countries and 5 continents have developed consensus statements and recommendations that aim to capture the key challenges and optimal management of achondroplasia across each major life stage and sub-specialty area, using a modified Delphi process. The primary purpose of this first International Consensus Statement is to facilitate the improvement and standardization of care for children and adults with achondroplasia worldwide in order to optimize their clinical outcomes and quality of life.
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http://dx.doi.org/10.1038/s41574-021-00595-xDOI Listing
November 2021

Italian consensus on the therapeutic management of uncomplicated acute hematogenous osteomyelitis in children.

Ital J Pediatr 2021 Aug 28;47(1):179. Epub 2021 Aug 28.

Pediatric Unit, San Martino Hospital, Belluno, Italy.

Background: Acute hematogenous osteomyelitis (AHOM) is an insidious infection of the bone that more frequently affects young males. The etiology, mainly bacterial, is often related to the patient's age, but it is frequently missed, owing to the low sensitivity of microbiological cultures. Thus, the evaluation of inflammatory biomarkers and imaging usually guide the diagnosis and follow-up of the infection. The antibiotic treatment of uncomplicated AHOM, on the other hand, heavily relies upon the clinician experience, given the current lack of national guidelines for the management of this infection.

Methods: A systematic review of the studies on the empirical treatment of uncomplicated AHOM in children published in English or Italian between January 1, 2009, and March 31, 2020, indexed on Pubmed or Embase search engines, was carried out. All guidelines and studies reporting on non-bacterial or complicated or post-traumatic osteomyelitis affecting newborns or children older than 18 years or with comorbidities were excluded from the review. All other works were included in this study.

Results: Out of 4576 articles, 53 were included in the study. Data on different topics was gathered and outlined: bone penetration of antibiotics; choice of intravenous antibiotic therapy according to the isolated or suspected pathogen; choice of oral antibiotic therapy; length of treatment and switch to oral therapy; surgical treatment.

Conclusions: The therapeutic management of osteomyelitis is still object of controversy. This study reports the first Italian consensus on the management of uncomplicated AHOM in children of pediatric osteomyelitis, based on expert opinions and a vast literature review.
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http://dx.doi.org/10.1186/s13052-021-01130-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8403408PMC
August 2021

The first European consensus on principles of management for achondroplasia.

Orphanet J Rare Dis 2021 07 31;16(1):333. Epub 2021 Jul 31.

Central German Competence Network for Rare Diseases (MKSE), Dept of Pediatrics, University Hospital, Otto-von-Guericke University, Magdeburg, Germany.

Achondroplasia is the most common type of skeletal dysplasia, caused by a recurrent pathogenic variant in the fibroblast growth factor receptor 3 (FGFR3). The management of achondroplasia is multifaceted, requiring the involvement of multiple specialties across the life course. There are significant unmet needs associated with achondroplasia and substantial differences in different countries with regard to delivery of care. To address these challenges the European Achondroplasia Forum (EAF), a network of senior clinicians and orthopaedic surgeons from Europe and the Middle East representative of the achondroplasia clinical community, came together with the overall aim of improving patient outcomes. The EAF developed a consensus on guiding principles of management of achondroplasia to provide a basis for developing optimal care in Europe. All members of the EAF were invited to submit suggestions for guiding principles of management, which were consolidated and then discussed during a meeting in December 2020. The group voted anonymously on the inclusion of each principle, with the requirement of a 75% majority at the first vote to pass the principle. A vote on the level of agreement was then held. A total of six guiding principles were developed, which cover management over the lifetime of a person with achondroplasia. The principles centre on the lifelong management of achondroplasia by an experienced multidisciplinary team to anticipate and manage complications, support independence, and improve quality of life. There is focus on timely referral to a physician experienced in the management of achondroplasia on suspicion of the condition, shared decision making, the goals of management, access to adaptive measures to enable those with achondroplasia to access their environment, and the importance of ongoing monitoring throughout adolescence and adulthood. All principles achieved the 75% majority required for acceptance at the first vote (range 91-100%) and a high level of agreement (range 8.5-9.6). The guiding principles of management for achondroplasia provide all healthcare professionals, patient advocacy groups and policy makers involved in the management of achondroplasia with overarching considerations when developing health systems to support the management of achondroplasia.
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http://dx.doi.org/10.1186/s13023-021-01971-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8325831PMC
July 2021

Resilience Against COVID-19: How Italy Faced the Pandemic in Pediatric Orthopedics and Traumatology.

Children (Basel) 2021 Jun 22;8(7). Epub 2021 Jun 22.

Pediatric Orthopaedic Unit, Department of Woman and Child Health, Padua General Hospital, 35121 Padua, Italy.

Background: We aimed to investigate the variation of medical and surgical activities in pediatric orthopedics in Italy, during the year of the COVID-19 pandemic, in comparison with data from the previous two years. The differences among the first wave, phase 2 and second wave were also analyzed.

Methods: We conducted a retrospective multicenter study regarding the clinical and surgical activities in pediatric orthopedics during the pandemic and pre-pandemic period. The hospital databases of seven tertiary referral centers for pediatric orthopedics and traumatology were queried for events regarding pediatric orthopedic patients from 1 March 2018 to 28 February 2021. Surgical procedures were classified according to the "SITOP Priority Panel". An additional classification in "high-priority" and "low-priority" surgery was also applied.

Results: Overall, in 2020, we observed a significant drop in surgical volumes compared to the previous two years. The decrease was different across the different classes of priority, with "high-priority" surgery being less influenced. The decrease in emergency department visits was almost three-fold greater than the decrease in trauma surgery. During the second wave, a lower decline in surgical interventions and a noticeable resumption of "low-priority" surgery and outpatient visits were observed.

Conclusion: Our study represents the first nationwide survey quantifying the impact of the COVID-19 pandemic on pediatric orthopedics and traumatology during the first and second wave.
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http://dx.doi.org/10.3390/children8070530DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8305147PMC
June 2021

Modified Dunn procedure versus percutaneous pinning in moderate/severe stable slipped capital femoral epiphyses.

Hip Int 2021 Apr 8:11207000211004862. Epub 2021 Apr 8.

Department of Orthopaedics and Traumatology, University of Torino, Torino, Italy.

Background: The modified Dunn procedure (MDP) has risen enthusiasm in treating slipped capital femoral epiphyses (SCFE) due to the anatomic reduction and high patients' satisfaction rates at long-term follow-up. Main aim of this study is to compare clinical and radiographic outcomes of 2 cohorts with moderate to severe stable SCFE treated by MDP and fixation.

Methods: Medical records were analysed to collect demographic data, comorbidities and time from slip to surgery. The collected postoperative data were: avascular necrosis (AVN); complications; progression of osteoarthritis and subsequent procedures. Southwick angles (SA), alpha angles and Klein line were measured on the preoperative x-rays, on the immediate postoperative period and at the latest follow-up. Outcomes scores were recorded by the following questionnaires: the Harris Hip Score, the Hip disability and Osteoarthritis Outcome Score, the Merle d'Aubigné and Postel score and the Western Ontario and McMaster Universities Arthritis Index. Kaplan-Meier survivorship curve was calculated.

Results: We compared 81 hips treated by MDP with 22 hips treated by pinning (PS) for moderate/severe stable SCFE. No significant differences were found between the 2 groups in terms of age, BMI, comorbidities and preoperative slip angles. At the latest follow-up, postoperative anteroposterior mean slip angles were respectively 6.2 and 19.9° in MDP and PS group ( = 0.3). Slip angles in frog lateral view were 11° in the MDP group and 39.7° in the PS group ( = 0.2). MDP group achieved better correction angles on frog leg view (11° vs. 39.7°;  < 0.001). There was no statistically significant difference in the occurrence of AVN among both groups (19.7% MDP group vs. 31.8% PS group) ( = 0.2).

Conclusions: The MDP in treating severe stable SCFE showed the best deformities corrections in conjunction with the highest functional scores at long-term follow-up and similar rates of osteonecrosis compared to fixation.
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http://dx.doi.org/10.1177/11207000211004862DOI Listing
April 2021

Hip morphology in slipped capital femoral epiphysis.

J Pediatr Orthop B 2021 Nov;30(6):535-539

Department of Orthopaedic and Traumatology, University of Torino, Torino.

Several mechanical factors have been related to slipped capital femoral epiphysis (SCFE). Main aim of this study is to investigate the acetabular coverage and acetabular version in unilateral SCFE hips in order to detect a potential pincer-type deformity as predisposing factor; second, we compared those measurements either to the contralateral, uninvolved hips either to a matched healthy control population. A total of 85 patients treated for unilateral SCFE were retrospectively reviewed. The lateral center-edge angle (LCEA) and the Tönnis angle were used to assess acetabular coverage, whereas acetabular retroversion was defined by positive prominent ischial spine (PIS), cross-over sign (COS) and posterior wall sign (PWS). Angles and signs of the affected hips were compared to the contralateral hips and to a matched cohort undergoing an abdominal/pelvic computed tomography for nonorthopedic-related diseases. Affected and unaffected hips of patients with unilateral SCFE had similar morphology in terms of LCEA 28.7° vs. 28° (P = 0.4), Tönnis angle 9° vs. 9° (P = 0.1) and retroversion signs with concomitant rate of PWS and COS 57.6% vs. 50.5% (P = 0.4), PIS 56.4% vs. 49.4% (P = 0.4). Matched healthy controls vs. the affected hips showed a lower LCEA (P < 0.001) and higher Tönnis angle (P < 0.001) in conjunction with a lower incidence of acetabular retroversion: PWS and COS 40% vs. 57.6% (P = 0.01), PIS 43% vs. 56.4% (P = 0.07). A significant retroversion and increased overcoverage were observed in SCFE patients compared to matched healthy controls. In unilateral SCFE, the involved and uninvolved hips showed a substantial symmetry.
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http://dx.doi.org/10.1097/BPB.0000000000000807DOI Listing
November 2021

Anterior chest wall deformities in children with neurofibromatosis type 1.

Acta Paediatr 2021 02 29;110(2):594-595. Epub 2020 Aug 29.

Pediatric Neurology and Neuromuscular Disorders Unit, IRCCS Giannina Gaslini Institute, Genoa, Italy.

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http://dx.doi.org/10.1111/apa.15529DOI Listing
February 2021

Diffuse bone and soft tissue angiomatosis with GNAQ mutation.

Pathol Int 2020 Jul 20;70(7):452-457. Epub 2020 Apr 20.

Department of Translational Research and of New Technologies in Medicine and Surgery, University of Pisa, Pisa, Italy.

We describe a unique case of skeletal and extraskeletal angiomatosis complicated by Kasabach-Merritt syndrome. The patient was a 3-year-old boy, who presented with involvement of both femurs and left tibia, as well as with soft tissue lesions of the left thigh. At birth, multiple hemangiomas of the soft tissues of the frontal and parietal scalp had been identified, together with a space-occupying lesion of the lung. Histologically, the skeletal and soft tissue lesions consisted of a proliferation of thin-walled, dilated blood vessels, with an endothelial lining devoid of atypia and exhibiting immunoreactivity for CD31 and CD34, while podoplanin and GLUT1 were negative. Whole exome sequencing performed on samples from the lesion of the femur, the tibia and the skin of the thigh, showed a GNAQ (c.286A>T:p.T96S) variant in all specimens, that was confirmed with digital droplet PCR. This case expands the clinical and pathologic spectrum of vascular proliferations showing similar molecular biology, characterized by GNAQ, GNA11 or GNA14 mutations.
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http://dx.doi.org/10.1111/pin.12933DOI Listing
July 2020

Clinical results and complication rates of lower limb lengthening in paediatric patients using the PRECICE 2 intramedullary magnetic nail: a multicentre study.

J Pediatr Orthop B 2020 Nov;29(6):611-617

Department of Paediatric Orthopaedics, IRCCS Istituto Giannina Gaslini, Genoa.

Implantable intramedullary nail lengthening devices (e.g., PRECICE 2 system) have been proposed as alternative method to external fixation for lower limb lengthening surgery. The aim of this study was to analyse our outcomes and complications using the PRECICE 2 (P2) nail system and review them in light of the existing literature. A retrospective multicentre study was conducted on patients <18 years, who were treated for limb lengthening using the P2 system. The inclusion criteria were a limb length discrepancy ≥ 30 mm and a follow-up ≥6 months after the end of treatment. A total of 26 (15 males) patients were included, average age was 14.7 ± 2.3 years; 26 nails (21 femur, 5 tibia) were implanted. The average goal lengthening was 49.4 ± 12.4 mm, while average achieved lengthening was 44.4 ± 11.6 mm. Average distraction and consolidation indexes were 11.9 ± 2.1 days/cm and 25.1 ± 8.1 days/cm, respectively. Nail accuracy and reliability were 91.1% and 88.5%, respectively. A total of five problems (joint contractures), one obstacle (femur fracture) and three complications (hip joint subluxation, deep infection and nail running back) were encountered. The P2 nail system is a valid alternative to external fixator for limb lengthening in young patients with no significant angular or rotation deformities. Our study confirms a favourable complication rate and available evidence from literature suggests a lower complication rate than external fixator systems. Nevertheless, surgeons should keep a watchful eye on risk of joint subluxation and mechanical complications with intramedullary lengthening.
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http://dx.doi.org/10.1097/BPB.0000000000000651DOI Listing
November 2020

Response to Letter to the Editor "Treatment of complex foot deformities with hexapod external fixator in growing children and young adult patients".

Foot Ankle Surg 2019 10 3;25(5):702. Epub 2019 Aug 3.

Department of Pediatric Orthopaedics, IRCCS Istituto "G Gaslini", Via Gerolamo Gaslini 5, 16147 Genova, Italy.

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http://dx.doi.org/10.1016/j.fas.2019.07.009DOI Listing
October 2019

Correction of complex lower limb angular deformities with or without length discrepancy in children using the TL-HEX hexapod system: comparison of clinical and radiographical results.

J Pediatr Orthop B 2019 May;28(3):214-220

Department of Pediatric Orthopaedics, IRCCS Istituto 'Giannina Gaslini', Children's Hospital, Genova, Italy.

The aim of this study was to compare clinical and radiographical results for treatment of lower limb multiaxial deformities±limb length discrepancy (LLD) of at least 2 cm with the Truelok hexapod fixator system (TL-HEX). All consecutive cases of lower limb multiaxial deformities were included. Patients were divided in two groups: group 1, lower limb angular deformity+LLD less than 2 cm, and group 2, lower limb angular deformity+LLD of at least 2 cm. Only patients with age younger than or equal to 20 years and follow-up of 6 months after removal of the external fixator were included. A total of 27 (six femur and 39 tibia treated) and 20 patients (12 femur and 19 tibia) were enrolled in groups 1 and 2, respectively. Complete correction of the deformity was achieved in 90 and 96% of the patients in groups 1 and 2, respectively. There were no differences in terms of external fixator, maturation, and distraction indexes between the two groups and between different anatomical sites. Good to excellent functional results (ASAMI score) were obtained in 93% of patients in group 1 and 75% in group 2 (P=0.01). Complication rate was similar between the two groups (7.4 vs. 10%, respectively). Average follow-up after removal of the external fixator was 25.6 (range: 7.0-54.0) months. The TL-HEX external fixator system allows a predictable correction of complex lower limb deformities regardless of the presence of LLD. Although complication rate is similar between the two groups, lower functional outcomes can be expected in patients with significant preoperative LLD.
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http://dx.doi.org/10.1097/BPB.0000000000000573DOI Listing
May 2019

Elastic stable intramedullary nailing (ESIN) in paediatric femur and tibia shaft fractures: Comparison between titanium and stainless steel nails.

Injury 2018 Nov;49 Suppl 3:S8-S11

Department of Paediatric Orthopaedics, IRCCS Istituto Giannina Gaslini, via Gerolamo Gaslini 5, 16147, Genoa, Italy.

Introduction: Elastic stable intramedullary nailing (ESIN) is currently considered the gold standard in surgical treatment of femur and tibial shaft fractures in school age paediatric patients. Although elastic intramedullary nails are available in both titanium (Ti) and stainless steel (SS) alloy, titanium nails are most commonly used. Nevertheless, there is still contrasting evidence as to whether the use of Ti nails can offer better outcomes in terms of fracture healing and stability over SS nails. The aim of this study was to compare outcomes and complications of Ti and SS ESIN for femur and tibia shaft fractures in a population of school age paediatric patients.

Materials And Methods: All consecutive patients who underwent ESIN for femoral or tibial shaft fracture from June 2012 to May 2015 at our centre were retrospectively reviewed. Standard demographic data were collected. Pre-operative and post-operative X-rays were reviewed, complications were collected from patients charts. Patients were divided in two groups, titanium nails (Ti group) and stainless steel nails (SS group) and outcomes compared between the two.

Results: A total of 34 patients were included (17 patients Ti group, 17 patients SS group) with a total of 14 femur and 21 tibia fractures. Average age at surgery was 9.4 ± 2.5 years in Ti group and 10.4 ± 2.4 years in SS group (p = 0.21). The average time to bone healing was 3 months in Ti group, and 2.8 months in SS group (p = 0.63). At final follow-up (12 months), no patient showed a coronal plane or sagittal plane deformity >10° and >15°, respectively. Complication rate was similar between the two groups (24% Ti group, 22% SS group).

Conclusions: We did not observe any significant difference in terms of bone healing, fracture mechanical stability, return to full activity, and complication rate between Ti and SS ESIN for paediatric femoral and tibial shaft fractures. While Ti nails remain a better choice for patients with metal allergy, SS nails may offer safe, effective, and cheaper alternative to Ti nails in school age femur and tibial shaft fractures.
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http://dx.doi.org/10.1016/j.injury.2018.09.049DOI Listing
November 2018

Treatment of complex foot deformities with hexapod external fixator in growing children and young adult patients.

Foot Ankle Surg 2019 Oct 9;25(5):623-629. Epub 2018 Jul 9.

Orthopedics and Traumatology Unit, Giannina Gaslini Children's Hospital, Genova, Italy.

Background: Treatment of complex foot deformities in growing children and young adult patients is challenging. The traditional approach consists of extensive soft tissues releases, osteotomies and/or arthrodesis. More recently, distraction osteogenesis has been proposed as an alternative strategy. The aim of this study was to describe our treatment strategy and report clinical outcomes of the patients affected from complex foot deformities treated by distraction osteogenesis and hexapod external fixator.

Materials And Methods: We retrospectively reviewed 10 consecutive patients with complex foot and ankle deformities treated from 2014 to 2016 at our unit. A TrueLok external fixator system was used in all patients. Final outcome was classified as good, fair and poor according to the criteria indicated by Paley and Ferreira. The results were also evaluated by the pre-operative and post operative American Orthopedic Foot and Ankle Score (AOFAS) and The Manchester-Oxford Foot Questionnaire (MOXFQ).

Results: A plantigrade foot was obtained in eight patients at the end of treatment, while in two patients a recurrence of the deformity was noted. Result was classified as good in 6 patients, fair in 2 patients, and poor in 2 patients. The AOFAS score improved from 33.9±21.2 pre-operatively to 67.25±15.1 post-operatively (p=0.005). A statistically significant improvement was observed for the MOXFQ score as well (from 60.6±23.3 to 33.0±25.2, p=0.020).

Conclusions: Our study shows that the TrueLok hexapod external fixator is a safe and effective tool in treatment of complex rigid foot deformities. Nevertheless, deformity recurrence can be observed in some cases and treatment remains challenging. Distraction osteogenesis should be reserved as a salvage solution for particularly complex cases and should be performed at dedicated specialized centers.
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http://dx.doi.org/10.1016/j.fas.2018.07.001DOI Listing
October 2019

A rare case of tibial hemimelia, surgical technique and clinical results.

Acta Orthop Traumatol Turc 2018 Jul 14;52(4):315-319. Epub 2017 Dec 14.

UOC Ortopedia - Ospedale Pediatrico Gaslini, Genova, Italy.

We report a nine-year-old boy with a type IIIa tibial hemimelia, according to the new Paley classification. We describe the x-ray findings, the surgical treatment technique, and the prognostic course of the patient. Descriptions of such cases are very infrequent in the literature and type of treatment is still object of debate.
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http://dx.doi.org/10.1016/j.aott.2017.11.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6150450PMC
July 2018

Diaphyseal femoral fractures below the age of six years: Results of plaster application and long term followup.

Indian J Orthop 2014 Jan;48(1):30-4

Orthopaedics and Traumatology Unit, Surgery Department Istituto Giannina Gaslini, Largo G. Gaslini 5-16100, Genova, Italy.

Background: In children less than 6 years, the treatment of femoral shaft fracture is often non surgical, using closed reduction and casting. The literature reports many experience about this type of trauma but none of these has a long term followup. We present a retrospective study on a group of femoral diaphyseal fractures treated nonsurgically in children up to 6 years of age, with a minimum of 10 year followup.

Materials And Methods: 48 cases (36 males/12 females) with femoral diaphyseal fractures treated between January 1988 and December 1998 were reviewed. Patients with fractures due to obstetrical trauma and pathologic fractures were excluded. The mean age of the patients was 3.3 ± 1.1 years (range 5 months-6 years). Right side was involved in 21 cases (44%), and left side in 27 cases (56%). In 34 cases (71%), closed reduction was performed and hip spica was applied with the hip and knee flexed to 45°. In 8 cases (17%), skeletal traction was applied to perform fracture reduction and the traction pin was embedded in plaster while in the remaining 6 cases (12%), the Delitala pressure apparatus was applied after casting.

Results: All fractures healed in our study. There were no complications (infection or vascular nervous issues, axial deviations, consolidation delays, or pseudoarthrosis). In 13 cases (27%), followup examinations showed mean lengthening of 1.3 ± 0.75 (range 0.5-2.5 cm) of the fractured lower limb. All these patients were treated with skin traction before treatment and presented with 2.08 ± 0.28 cm mean initial femoral shortening. In 1 case (2%) with 2.5 cm lengthening, epiphysiodesis of the ipsilateral knee was performed. No patients showed prolonged difficulty with gait disorders.

Conclusion: On the basis of our results conservative treatment of femoral shaft fractures in children can be considered less invasive and safe procedure.
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http://dx.doi.org/10.4103/0019-5413.125487DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3931150PMC
January 2014

Evaluation of tibial osteopathy occurrence in neurofibromatosis type 1 Italian patients.

Am J Med Genet A 2013 May 5;161A(5):927-34. Epub 2013 Mar 5.

Department of Pediatrics, Gaslini Children's Hospital, University of Genoa, Genoa, Italy.

Neurofibromatosis Type 1 (NF1) is a common autosomal dominant disorder characterized by high penetrance, widely variable expressivity and occurrence of specific skeletal changes such as tibial osteopathy (TO). We collected data on patients referred to the Italian Neurofibromatosis Study Group in order to compare clinical features between 49 NF1 patients with TO, and 98 age-matched NF1 patients without TO, and to determine whether the presence of TO is associated with a different risk of developing the typical NF1 complications. We assessed both groups for: age at diagnosis of NF1, gender distribution, family history, gender inheritance, presence of scoliosis, sphenoid wing osteopathy, other skeletal abnormalities, macrocrania, hydrocephalus, plexiform neurofibromas, tumors, optic pathway gliomas, T2H (high-signal intensity areas on T2 weighted brain MRI), epilepsy, headache, mental retardation, cardiovascular malformations, and Noonan phenotype. Patients of both groups were subdivided by gender and re-evaluated for these items. Statistical comparison was carried out between the two groups of patients for each feature. We collected data on type of treatment and on the clinical conditions of NF1-TO patients after follow-up. Patient's age at NF1 diagnosis was significantly younger in NF1-TO subjects compared with NF1 subjects without TO, and the incidence of T2H was significantly reduced in NF1-TO males compared with NF1 males without TO. The presence of TO does not imply that there is an increased risk of developing typical complications of NF1 (e.g., optic pathway glioma, plexiform neurofibroma, etc.), however, it does allow us to make an earlier diagnosis of NF1.
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http://dx.doi.org/10.1002/ajmg.a.35753DOI Listing
May 2013

Use of the eight-Plate for angular correction of knee deformities due to idiopathic and pathologic physis: initiating treatment according to etiology.

J Child Orthop 2011 Jun 12;5(3):209-16. Epub 2011 May 12.

Department of Pediatric Orthopedics, Istituto Giannina Gaslini, Largo G. Gaslini, 5, 16147 Genoa, Italy.

Purpose: Angular deformities of the knee resulting from idiopathic, congenital, or acquired causes are commonly encountered in pediatric orthopedics. Whereas physiological deformities should be treated expectantly, the remaining often progress enough to warrant operative treatment, despite attempted bracing. Historical methods of surgical treatment (e.g., epiphysiodesis and stapling) have yielded to the increasingly popular method of reversible guided growth using the eight-Plate.

Methods: We studied 58 patients with knee angular deformities managed with eight-Plate guided growth. All etiologies except physiological deformities and those with very slow growth rate were included. Each patient was under appropriate medical management during the entire duration of treatment and after plate removal.

Results: In the dysplasia/syndrome group, we noted complete correction in 22 patients (78.5%), partial correction in 5 (17.9%), and no correction in 1 patient (3.6%). All cases of idiopathic deformities resolved. Patients with osteochondral dysplasias and genetic syndromes underwent earlier intervention and slower correction than those with idiopathic genu varum or valgum. The time difference in reaching a neutral mechanical axis between the two groups (11 months in idiopathic versus 18 months in pathological physis) could be explained by a significant difference in growth speeds (P = 0.003).

Conclusion: Results indicate that early intervention is advisable for patients with osteochondral dysplasias/syndromes as subsequent correction takes longer. If rebound growth causing recurrent deformity occurs, guided growth can be safely repeated. Additionally, complications reported with other techniques such as hardware failure, physeal violation by the implant, premature physeal closure, and overcorrection were not reported while using the eight-Plate.
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http://dx.doi.org/10.1007/s11832-011-0344-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3100457PMC
June 2011

Near-miss events are really missed! Reflections on incident reporting in a department of pediatric surgery.

Pediatr Surg Int 2012 Apr 7;28(4):405-10. Epub 2012 Jan 7.

Pediatric Surgery Department, Giannina Gaslini Institute, University of Genoa, Genoa, Italy.

Purpose: The aim of this study was to evaluate the frequency of surgical and organizational events that occurred in the whole Department of Paediatric Surgery at Gaslini Children's Hospital through an incident-reporting system in order to identify the vulnerabilities of this system and improve it.

Materials And Methods: This is a 6-month prospective observational study (1st January-1st July 2010) of all events (including surgical and organizational events, and near misses) that occurred in our department of surgery (pediatric surgery, orthopedics and neurosurgery units).

Results: Over a 6-month study period, 3,635 children were admitted: 1,904 out of 3,635 (52.4%) children underwent a surgical procedure. A total number of 111 adverse events and 4 near misses were recorded in 100 patients. A total of 108 (97.3%) adverse events occurred following a surgical procedure. Of 111 adverse events, 34 (30.6%) required re-intervention. Eighteen of 100 patients (18%) required a re-admission, and 18 of 111 adverse events (16.2%) were classified as organizational. Infection represented the most common event.

Conclusions: An electronic physician-reported event tracking system should be incorporated into all surgery departments to report more accurately adverse events and near misses. In this system, all definitions must be standardized and near misses should be considered as important as the other events, being a rich source of learning.
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http://dx.doi.org/10.1007/s00383-011-3047-5DOI Listing
April 2012

Pediatric cubital tunnel syndrome by anconeus epitrochlearis: a case report.

J Shoulder Elbow Surg 2009 Mar-Apr;18(2):e21-3. Epub 2008 Sep 30.

Orthopaedics and Traumatology Unit, G Gaslini Institute, Largo G Gaslini, Genoa, Italy.

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http://dx.doi.org/10.1016/j.jse.2008.06.001DOI Listing
June 2009

Multiple forearm diaphyseal fracture: reduction and plaster cast control at the end of growth.

Int Orthop 2007 Dec 16;31(6):807-10. Epub 2006 Nov 16.

2nd Department of Orthopedic Surgery, Giannina Gaslini Research Institute, Largo Gaslini 5, Genoa, 16147, Italy,

The authors followed up 20 patients with multiple diaphyseal fractures of the radius and ulna who were treated nonoperatively and who healed with axial deviation >5 degrees in at least one plane 20.4+/-6.7 years after radiographic evidence of fracture union. Mean age at follow-up was 28.6+/-6.4 years. Radiographs were measured soon after reduction, at 10 days from reduction, at the end of treatment, and at follow-up (17/20). Both elbow and forearm range of motion (ROM) were compared with those of the contralateral side. At follow-up, ROM was normal and radiographs showed angular deviations <5 degrees .
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http://dx.doi.org/10.1007/s00264-006-0255-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2266673PMC
December 2007

Pinning in slipped capital femoral epiphysis: long-term follow-up study.

J Pediatr Orthop B 2003 Nov;12(6):372-9

Second Department of Orthopedic Surgery, Giannina Gaslini Research Institute, Genoa, Italy.

This long-term follow-up study was aimed at evaluating patients with hip epiphysiolysis treated by pinning and previously controlled by short-term follow-up, in order to evaluate both clinical and radiographic evolution. The case series included 36 patients (17 female and 19 male) for overall 48 hips (21 right, 27 left). The epiphysiolysis was bilateral in 12 patients. Median follow-up was 17.9 years (range 8.8-29.2). Clinical results were evaluated according to Harris, radiographic results according to Boyer. The patients were divided into three groups according to slipping degree calculated following Southwick (0-30 degrees, 30-60 degrees, >60 degrees ). Slipping degree was found to be directly correlated with worsening of results. Reduction manoeuvres on chronic epiphysiolysis proved to lead to even poorer results. Our review, even though carried out on a limited number of cases, showed that (1) hips with arthrosis at first control resulted in worsening in the majority of cases; (2) slipping degree was proportional to the result obtained; (3) reduction manoeuvres performed on chronic epiphysiolysis had a negative influence on results; (4) the presence of chondrolysis or epiphyseal necrosis always led to early hip arthrosis; (5) in the absence of major complications, evolution towards arthrosis can be slow and adulthood or even old age can be reached without resorting to total hip replacement.
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http://dx.doi.org/10.1097/01.bpb.0000079202.23239.64DOI Listing
November 2003
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