An Analysis From a Tertiary Pediatric Hospital: Does Physical Activity Play a Role in the Management of Children and Young Adults With Osteogenesis Imperfecta?

INTRODUCTION: Osteogenesis imperfecta (OI) is a hereditary connective tissue disorder characterized by reduced bone density and increased proneness to fractures. It manifests across a varied clinical spectrum of expressions in children and young adults. It is crucial for children with OI to have a multidisciplinary follow-up, including orthopedics, pediatrics, and physical medicine and rehabilitation. Although exercise may have no effect on the disease itself, it might improve the autonomy, self-esteem, and fitness of these children.  Methods: Retrospective cohort analysis of children and young adults aged three or more years old followed-up in a Level III Pediatric Hospital between 1995 and 2020. Demographic and clinical data were obtained from the hospital records and from the caregivers via phone calls. To our knowledge, this is the first national case series published assessing exercise habits in children with this condition. RESULTS: Among the 21 patients studied, the median age was 14 years, with no gender predominance. Eighteen (86%) practiced regular physical activity, while the remaining three (14%), all of whom were type III OI, were totally dependent. Of the aforementioned 18 children, 12 (67%) considered practicing the same level of physical activity compared to their healthy peers, although most of them needed adaptations. The most reported extracurricular activity was swimming, in 50% of the cases. About 39% engaged in physical activity two times or less per week, and 89% practiced for one hour or less per session. DISCUSSION: Over the years, it has become clear that physical activity is an important part of OI management. While awareness of the importance of exercise already exists, proper planning, follow-up, and monitoring are essential.

Bone and joint tuberculosis in paediatrics: a 13-year retrospective study.

Introduction. Bone and joint tuberculosis (BJTB) is rare in developed countries, particularly in the paediatric population.Hypothesis/Gap Statement. The clinical features and sequelae of paediatric BJTB in Europe are not well characterized and should be assessed to achieve a better approach.Aim. To assess the management and outcomes of paediatric BJTB.Methodology. Longitudinal observational study of all paediatric patients (0-17 years old) diagnosed with BJTB between 2008 to 2020 in a tertiary-care hospital.Results. We identified 18 patients with BJTB, with a median age of 10 years (IQR 6-14.8), 66.7 % male. Most (72 %) were diagnosed after 2015 and were foreign-born (88.9 %), mainly from Portuguese-speaking African countries, and none had HIV. The most common symptoms were pain (77.8 %), fever (50 %) and bone deformity (44.4 %). Spinal TB (STB) affected 13 (72.2 %) and extra-spinal TB (ESTB) 9 (50 %) patients, and 4 (27.7 %) had both conditions. Diagnostic positive procedures included positive nucleic acid amplification technique (NAAT) (44.4 %), Mycobacterium tuberculosis isolation (44.4 %) and compatible histology (33.3 %). All completed antituberculous drugs for a median of 12 months (IQR 12-13) and nine (50 %) had surgery. Overall, acute complications occurred in 16 (88.9 %) patients - 11/13 (84.6 %) with STB and 5/5 (100 %) with ESTB - and included abscesses, spinal compression, spine deformity and pathological fractures. Sequelae were still present at the 12-month follow-up in seven cases (46.7 %), and were more common in foreign-born patients sent to Portugal to receive medical treatment (66.7 vs 20 %).Conclusions. Paediatric BJTB is difficult to diagnose and has high morbidity, requiring long-term follow-up. Over the last decade, foreign-born TB seems to be increasing, with still longer treatment courses and more acute complications and sequelae.

Pinckney fracture: do not underestimate trauma of the distal phalanx of the hallux.

Toe injuries are common in the emergency department and most of them are treated conservatively. In some circumstances, these injuries can present as a physeal fracture with concomitant soft-tissue injury affecting the nail bed and resulting in a hidden open fracture. To adequately treat these patients, a high index of suspicion is needed to diagnose and treat the open fractures and to prevent complications such as infection, osteomyelitis, malunion and premature physeal arrest.We report a case of a patient that was admitted to the hospital with a Salter-Harris type I fracture of the distal phalanx of the hallux. After confirming the diagnosis, antibiotic treatment was started and the fracture was reduced and fixed.The literature on this entity is sparse and most of the management protocols are based on its hand equivalent-the Seymour fracture, emphasising the low threshold for treating these lesions as an open fracture.

DeepFly3D, a deep learning-based approach for 3D limb and appendage tracking in tethered, adult Drosophila.

Studying how neural circuits orchestrate limbed behaviors requires the precise measurement of the positions of each appendage in three-dimensional (3D) space. Deep neural networks can estimate two-dimensional (2D) pose in freely behaving and tethered animals. However, the unique challenges associated with transforming these 2D measurements into reliable and precise 3D poses have not been addressed for small animals including the fly, Drosophila melanogaster. Here, we present DeepFly3D, a software that infers the 3D pose of tethered, adult Drosophila using multiple camera images. DeepFly3D does not require manual calibration, uses pictorial structures to automatically detect and correct pose estimation errors, and uses active learning to iteratively improve performance. We demonstrate more accurate unsupervised behavioral embedding using 3D joint angles rather than commonly used 2D pose data. Thus, DeepFly3D enables the automated acquisition of Drosophila behavioral measurements at an unprecedented level of detail for a variety of biological applications.

Preoperative halo-gravity traction with and without anterior release for severe scoliosis / Tracção halogravitacional com e sem libertação anterior no tratamento de escoliose grave / Tracción preoperatoria de halo-gravedad con y sin liberación anterior en escoliosis grave

ABSTRACT Objective: This study aims to compare the use of halo-gravity traction (HGT) with and without previous anterior release, in terms of curve reduction, for the treatment of pediatric severe spinal deformity. Methods: From 2010 to 2016, all patients treated with HGT prior to instrumentation for scoliosis and kyphoscoliosis were reviewed. They were assessed by deformity etiology, previous anterior release, instrumentation procedure used, traction protocol, major Cobb angle before traction, after the protocol, and after the instrumentation procedure. Twelve patients met these criteria and constituted the sample groups: Group I (n=7) with anterior release and Group II (n=5) without anterior release. Results: The average pre-traction major curve Cobb angles were 114.9o and 108.4º for Group I and II, respectively (P>0.05). After HGT, both groups achieved a significant reduction in curve angle (P<0.05). Group I presented an average Cobb angle of 95.0o after HGT, representing a 17.3% (19.8o) curve reduction. Group II presented a Cobb angle of 80.1o, representing a 25.2% (28.4o) curve reduction. The difference between the two groups in relation to the reduction of major curve after HGT was not statistically significant (P=0.073). After the surgical procedure, the correction achieved was significantly improved (P<0.05), without statistically significant difference between the two groups (P>0.05). No major HGT related complications were reported. Conclusions: Anterior release prior to HGT did not increase major curve correction after posterior surgery for severe pediatric idiopathic and syndromic scoliosis. HGT is an effective and safe technique, though it frequently presents minor and transitory complications. Level of Evidence III; Retrospective Comparative Study.

RESUMO Objetivo: O presente estudo tem como objectivo comparar a utilização de tracção halo-gravitacional (THG), com e sem libertações anteriores prévias, no que diz respeito à correcção da curva no tratamento de escoliose grave pediátrica. Métodos: Foram avaliados retrospectivamente doentes com escoliose/cifoescoliose, tratados com THG prévia ao procedimento instrumentado, entre 2010 e 2016. Foi avaliada a etiologia da deformidade, realização de libertações discais prévias, tipo de procedimento instrumentado, protocolo da THG, ângulo de Cobb da curva major previamente à THG, após protocolo e após procedimento instrumentado. Doze doentes satisfaziam os critérios de inclusão: Grupo I (n=7) com libertações anteriores prévias e Grupo II (n=5) sem libertações prévias. Resultados: O ângulo Cobb médio da curva major era 114,9o e 108,4º para o Grupo I e II respectivamente (P>0,05). Após THG, ambos os grupos apresentaram redução significativa da curva major (P<0,05). O Grupo I apresentava um ângulo Cobb médio de 95,0o, representando redução de 17,3% (19,8o). O Grupo II apresentava um ângulo Cobb médio de 80,1o, representando redução de 25,2% (28,4o). Após THG não existiu diferença significativa entre os grupos, no que diz respeito à redução da curva major (P=0,073). Após instrumentação, a correcção aumentou de forma significativa (P<0,05), sem diferença estatisticamente significativa entre os dois grupos (P=0.05). Não existiram complicações major relacionadas com a THG. Conclusões: Libertações discais prévias à THG não parecem aumentar a correcção final da curva major, no tratamento de escoliose pediátrica grave. A THG é um método efectivo e seguro. Nível de Evidência III; Estudo Retrospectivo Comparativo.

RESUMEN Objetivo: Este estudio tiene como objetivo comparar el uso de la tracción de halo-gravedad (THG) con y sin liberación anterior previa, con respecto a la reducción de la curva en el tratamiento de la deformidad espinal pediátrica grave. Métodos: Entre 2010 y 2016, se revisaron todos los pacientes tratados con THG antes de la instrumentación para escoliosis y cifoescoliosis. Se evaluaron por etiología de la deformidad, liberación anterior previa, tipo de instrumentación, protocolo de tracción, ángulo de Cobb mayor antes de la tracción, después del protocolo y después de la instrumentación. Doce pacientes cumplieron los criterios de inclusión y constituyeron los grupos de muestra: Grupo I (n = 7) con liberación anterior y Grupo II (n = 5) sin liberación anterior. Resultados: El promedio de los ángulos de Cobb de la curva principal antes de la tracción fue de 114,9o y 108,4° para el grupo I y II, respectivamente (P > 0,05). Después de la THG, ambos grupos lograron una reducción significativa en el ángulo de la curva (P > 0,05). El Grupo I tenía ángulo Cobb promedio de 95o, después de la THG, lo que representa una reducción de la curva del 17,3% (19,8o). El Grupo II tenía ángulo de Cobb de 80,1º, que representa una reducción de la curva del 25,2% (28,4o). La diferencia entre los dos grupos en relación con la reducción de la curva principal después de la THG no fue estadísticamente significativa (P = 0.073). Después del procedimiento quirúrgico, la corrección mejoró de manera expresiva (P > 0,05), aunque sin diferencia estadísticamente significativa entre los dos grupos (P > 0,05). No se informaron complicaciones mayores relacionadas con la THG. Conclusiones: La liberación anterior previa a la THG no aumentó la corrección de la curva principal después de la cirugía posterior para la escoliosis pediátrica idiopática y sindrómica grave. La THG es una técnica efectiva y segura, aunque con frecuencia presenta complicaciones menores y transitorias. Nivel de Evidencia III; Estudio Retrospectivo Comparativo.

[Osteogenesis imperfecta--experience of Dona Estefânia's Hospital orthopedics' department]. / Osteogénese imperfeita--experiência do serviço de ortopedia do Hospital Dona Estefânia.

INTRODUCTION/AIMS: Osteogenesis imperfecta (OI) is a genetic disorder characterized by bone fragility and osteopenia. Treatment involves a multidisciplinary approach and aims to improve the quality of life. The authors aimed to describe the characteristics of a sample of children with OI, to evaluate the treatment and clinical outcome before and after therapy. MATERIAL AND METHODS: An observational, longitudinal, retrospective and analytic study based on data obtained from the analisys of the clinical files of all patients with OI included in the pamidronate treatment protocol in Dona Estefânia's Hospital. The studied variables were: gender, age at diagnosis, familiar history of OI, age at fracture, fracture location, number of fractures, medical/surgical therapy, age at onset of treatment, number of courses of medical therapy, age at surgical treatment and its complications. A five percent statistics significance level was adopted. RESULTS: in 21 patients, 61.9% were male and 11 had its OI type registered (five type I, three type III, three type IV). The average age of diagnosis was 20.6 months and there were two diagnostic peaks: the first month - 37%, and 24 months - 26%. On average patients had 0.62 fractures/patient/year, of which 17.4% in the perinatal period and 62% before age three. Most of the fractures occurred in the lower limbs (55.6%). All patients underwent medical treatment, starting at an average of 4.3 years. In follow-up sample (n=14) there was a decrease in the number of fractures after starting treatment with pamidronate (0.76 to 0.35 fractures/patient/year). Intramedullary rods were placed in nine patients (64.3%). In eight patients they were placed in the femur, four unilateral and four bilateral, with no prior history of fracture in three cases. There were no new fractures in the surgically treated bones. CONCLUSION: OI is a disease with a wide clinical variability that mainly depends on its type. Despite no cure has been found, medical treatment with biphosphonates and surgical treatment, with intramedullary rods, seems to reduce the incidence of new fracture occurrence.

Abstract available from the publisher.

[Validation of the Ottawa rules for the Portuguese population: a prospective study]. / Validação das regras de Ottawa para a população Portuguesa: estudo prospectivo.

UNLABELLED: Acute ankle injury is one of the main reasons for observation of patients in the emergency department. Only 15% present with clinically significant fractures, but they are almost always referred for radiography. The Ottawa ankle rules have provided specific directions for carrying out radiography in these situations, allowing a reduction in hospital costs and reducing exposure to ionizing radiation. The aim of the study is to verify that the protocol of the Ottawa rules for evaluating ankle trauma can adapt to a sample of the Portuguese population. MATERIAL AND METHODS: This prospective study was done in the Emergency Department of Orthopedics, for a period of 9 months, integrating all patients who presented with complaints in the ankle with less than 48 hours development. All patients underwent radiography of the injured area. Radiographic images were evaluated by the orthopaedic doctor in the emergency department. Patients were reassessed in about 10-15 days after injury by the same observer. RESULTS: We evaluated 123 patients. The average age was 35.2 (range, 7 to 88) years. Sixty had positive criteria for radiological assessment, of which 43 had fracture; none of the patients with negative criteria had fratures. Sensitivity of Ottawa ankle rules for detecting fractures was 100%. CONCLUSION: The implementation of the Ottawa ankle rules appears to have potential to reduce the number of radiographs for the assessment of these patients by about 51%. The results of this study demonstrate no false negatives and are consistent with the results of other similar studies which sensitizes us to implement these criteria in our emergency services.