Pathological Fractures in Patients Affected by Pycnodysostosis: A Case Series.

Background/Objectives: Pycnodysostosis is a rare genetic disorder causing skeletal dysplasia. It is determined by a gene mutation leading to cathepsin K deficiency and predisposes a patient to osteosclerosis, resulting in increased bone fragility. The altered bone quality typical of this disease is responsible for an increased risk of fractures. The purpose of our study was to evaluate the orthopedic manifestations and potential pitfalls in the surgical treatments of pathological fractures in a series of patients treated in our institution who were affected by pycnodysostosis. Methods: We retrospectively evaluated clinical and radiographic characteristics of five patients with pycnodysostosis treated for pathological fractures at our hospital in the past 5 years. Results: Two male and three female patients were included in this study. Four patients had a family history of pycnodysostosis. All the patients were of short stature, but only two underwent growth hormone treatment. All the patients experienced fractures, mostly in their lower limbs and occurring as a result of low-energy trauma. Most of the patients experienced either consolidation delay or nonunion. Conclusions: The orthopedic management of fractures in patients with pycnodysostosis poses an ongoing challenge for orthopedic surgeons. The fact that the bone is simultaneously sclerotic and brittle makes any orthopedic surgical treatment challenging and at a high risk of nonunion in any case.

How pain affect real life of children and adults with achondroplasia: A systematic review.

The clinical features of achondroplasia can cause acute self-limited pain that can evolve into chronic pain. Pain causes a low quality of life, in terms of physical, emotional, social, and school functioning in both adult and children with achondroplasia. We conducted a systematic review according to the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) statement to describe prevalence, assessment tools, causes and management strategies of pain in this rare disease. We found that shoulder and knee pain is typically referred during infancy, while knee pain is generally referred around 5-6 years of age. The prevalence of general pain in adolescence can be as high as 90%. Chronic pain in the achondroplasia population increases with age, with up to 70% of adults reporting general pain and back pain. Recognizing the multiple determinants of acute and chronic pain in patients with achondroplasia may enable physicians to better understand and manage this burden, particularly with the advent of new drugs that may modify some of the striking features of achondroplasia.

Assessment for late developmental hip dysplasia in a cohort of infants with risk factors and normal hip ultrasound.

Background: Developmental dysplasia of the hip (DDH) is a known orthopedic pathology of newborns that, if not diagnosed and treated, can lead to debilitating long-term consequences. Ultrasound has proven to be an effective method for the early diagnosis of this condition. Recently, reports of late DDH in populations at risk (breech presentation) and after negative ultrasound examination have emerged in the literature. Aim: The objective of the study was to assess the possible appearance of late DDH in Italian children with risk factors but negative ultrasound screening. Materials and methods: We selected patients with risk factors for DDH and a negative hip ultrasound from the medical records of children referred to the Hip Ultrasound Clinic (Rome, Italy) from January 2018 to November 2021. To identify possible cases of late DDH, from February 2022 to July 2022, all patients who met the inclusion criteria were submitted to orthopedic follow-up clinical evaluation. In the case of a pathological objective examination, radiography was performed. Results: Fifty-five patients (52.7% female, 52.7% with breech presentation, and 41.8% with a positive family history) met the inclusion criteria. The median age of gait onset was 13 months. The median age of orthopedic follow-up examination was 45 months. Only three patients (5.5%) had a pathological examination, but no x-ray were pathological. Conclusion: Our study has not documented cases of late DDH. Considering the small study population and the only clinical follow-up, further studies are needed to clarify the possible late development of this condition.

What to Expect of Feeding Abilities and Nutritional Aspects in Achondroplasia Patients: A Narrative Review.

Achondroplasia is an autosomal dominant genetic disease representing the most common form of human skeletal dysplasia: almost all individuals with achondroplasia have identifiable mutations in the fibroblast growth factor receptor type 3 (FGFR3) gene. The cardinal features of this condition and its inheritance have been well-established, but the occurrence of feeding and nutritional complications has received little prominence. In infancy, the presence of floppiness and neurological injury due to foramen magnum stenosis may impair the feeding function of a newborn with achondroplasia. Along with growth, the optimal development of feeding skills may be affected by variable interactions between midface hypoplasia, sleep apnea disturbance, and structural anomalies. Anterior open bite, prognathic mandible, retrognathic maxilla, and relative macroglossia may adversely impact masticatory and respiratory functions. Independence during mealtimes in achondroplasia is usually achieved later than peers. Early supervision of nutritional intake should proceed into adolescence and adulthood because of the increased risk of obesity and respiratory problems and their resulting sequelae. Due to the multisystem involvement, oral motor dysfunction, nutrition, and gastrointestinal issues require special attention and personalized management to facilitate optimal outcomes, especially because of the novel therapeutic options in achondroplasia, which could alter the progression of this rare disease.

Femoral neck fracture: the reliability of radiologic classifications.

BACKGROUND: Femoral neck fractures (FNF) are one of the most common injury in the elderly. A valid radiographic classification system is mandatory to perform the correct treatment and to allow surgeons to facilitate communication. This study aims to evaluate reliability of 2018 AO/OTA Classification, AO/OTA simplified and Garden classification. METHODS: Six Orthopaedic surgeons, divided in three groups based on trauma experience, evaluated 150 blinded antero-posterior and latero-lateral radiography of FNF using Garden classification, 2018 AO/OTA and simplified AO/OTA classification. One month later, the radiographs were renumbered and then each observer performed a second evaluation of the radiographs. The Kappa statistical analysis was used to determine the reliability of the classifications. Cohen's Kappa was calculated to determine intra and inter observer reliability. Fleiss' Kappa was used to determine multi-rater agreement. RESULTS: The k values of interobserver reliability for Garden classification was from 0,28 to 0,73 with an average of 0,49. AO classification showed reliability from 0,2 to 0,42, with average of 0,30. Simplified AO/OTA classification showed a reliability from 0,38 to 0,58 with an average of 0,48. The values of intra observer reliability for Garden classification was from 0,48 to 0,79 with an average of 0,63. AO classification showed reliability from 0,2 to 0,64 with an average of 0,5. Simplified AO/OTA classification showed a reliability from 0,4 to 0,75 with an average of 0,61. CONCLUSION: The revised 2018 AO/OTA classification simplified the previous classification of intracapsular fracture but remain unreliable with only fair interobserver reliability. The simplified AO/OTA classification show a reliability similar to Garden classification, with a moderate interobserver reliability. The experience of the surgeons seems not to improve reliability. No classification has been shown to be superior in terms of reliability.

Limb lengthening with PRECICE magnetic nail in pediatric patients: A systematic review.

BACKGROUND: Limb lengthening techniques play an increasingly important role in the pediatric orthopedic field. The principles of the osteogenesis distraction bonded traditionally with external fixators; however, the recent deployment of fully implantable systems has been able to overcome severities related to external fixators. The PRECICE® is an implantable limb lengthening intramedullary nail system that is remotely controlled and magnetically driven. AIM: To review the current literature available on this matter in order to assess the PRECICE clinical and radiological outcomes and its possible complications in a population of pediatric patients undergoing limb lengthening. METHODS: Only five studies met the inclusion criteria and were consequently included in the review for a total of 131 patients and 135 femurs. The clinical and radiological outcomes of interest were: the main lengthening obtained, the distraction rate, the period of time to full weight bearing, the consolidation index, and the Association for the Study and Application of Methods of Ilizarov score. RESULTS: In conclusion, data collected from the articles under investigation were comparable with the exception of the consolidation index. Unfortunately, the study population was too small and the patients' follow-up was too short to make definitive conclusions. CONCLUSION: This review shows that the PRECICE Nail System is still a therapeutic challenge in limb lengthening for pediatric orthopedic surgeons; however, careful pre-operative planning and an accurate surgical technique could allow the correction of more complex deformities with a low rate of complications.

Efficacy of postoperative drainage in total knee arthroplasty: Review of the literature.

Postoperative drainage after total knee arthroplasty (TKA) is an established routine procedure for orthopedic surgeries, and is considered a useful practice in postoperative, but the use of drainage is controversial. Our study aims to clarify this aspect of knee prosthetic surgery. A systematic review of the literature was performed in the electronic databases to investigate the risks and the benefits of wound drainage in total knee arthroplasty: 30 articles were included in our review for eligibility. After the analysis of the literature performed, we found no significant advantages related with the use of wound drain following total knee replacement (TKR) in terms of pain, transfusion rate, blood loss, swelling, postoperative range of motion, wound complications, deep infection and hospital stay, while no drainage means a significant cost saving compared to drainage use. Thus, the use of drainage after TKA cannot be justified on the basis of the results of this study.

Surgical approach for fracture of distal humerus: Posterior vs lateral.

Humeral fractures have an incidence of 3-5% and a bimodal age distribution. They may occur in young patients after highenergy traumas or in elderly osteoporotic patients after low-energy injuries. In nondisplaced fractures or in elderly patients, humeral fractures are treated by conservative methods. Open reduction and internal fixation (ORIF) should be the treatment of choice in case of multi-fragmentary fractures associated with radial nerve palsy or not. ORIF is usually regarded as the gold standard treatment, but, depending on the different types of fracture, the surgical approach can change. In this review, we compare results and complication rates between lateral and posterior surgical approaches in the management of extraarticular distal humeral shaft fractures. An internet-based literature research was performed on Pubmed, Google Scholars and Cochrane Library. 265 patients were enrolled: 148 were treated by lateral or antero-lateral approach, while 117 by posterior or postero-lateral approach. The literature shows that no differences between the posterior and lateral approach exist. Certainly, the posterior approach offers undoubted advantages in terms of exposure of the fracture and visualization of the radial nerve. In our opinion, the posterior approach may also allow better management of complex and multi-fragmentary fractures.

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

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.