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1.
Eur J Orthop Surg Traumatol ; 34(3): 1253-1258, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38085371

RESUMEN

This review presents the principal features of paediatric femoral shaft fractures including the contemporary management strategies and relevant supporting evidence. The article is an overview of information relevant to clinical practice, in addition to preparation for the FRCS (Orth) examination.


Asunto(s)
Fracturas del Fémur , Humanos , Niño , Fracturas del Fémur/diagnóstico , Fracturas del Fémur/cirugía , Estudios Retrospectivos
2.
Curr Opin Pediatr ; 36(1): 90-97, 2024 Feb 01.
Artículo en Inglés | MEDLINE | ID: mdl-37851057

RESUMEN

PURPOSE OF REVIEW: The pelvis and hip account for 0.3--4% of fractures of the immature skeleton, and generally result from high energy trauma. These fractures range in severity from apophyseal avulsions to complete disruptions of the pelvic ring. The purpose of this article is to review the presentation, diagnosis, treatment and complications of these injuries in order to inform clinicians involved in their management. There is a lack of evidence-based management protocols for fractures of the immature pelvis largely due to their rarity and lack of robust scientific literature on the topic. RECENT FINDINGS: Computed tomography/MRI is essential as up to 30% of pelvis and 70% of acetabular fractures are not identified on initial radiographs. A sub-optimal outcome is common in unstable fractures treated conservatively and adequate reduction and surgical stabilization is often required to avoid long-term morbidity. SUMMARY: A coordinated approach involves resuscitation and temporary stabilization with planned definitive fixation. It is generally accepted that these injures should be managed in paediatric trauma centres. Whilst injuries vary in pattern and severity, we present an overview that considers the evaluation and treatment of the paediatric patient with pelvic and hip fractures to ensure that these injuries are identified promptly and treated by surgeons familiar with contemporary management algorithms.


Asunto(s)
Fracturas Óseas , Huesos Pélvicos , Humanos , Niño , Huesos Pélvicos/lesiones , Fracturas Óseas/diagnóstico por imagen , Fracturas Óseas/terapia , Pelvis/lesiones , Radiografía , Tomografía Computarizada por Rayos X/métodos , Estudios Retrospectivos
3.
Instr Course Lect ; 73: 401-420, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38090912

RESUMEN

Pediatric musculoskeletal infections (MSIs) are a major contributor to the global burden of musculoskeletal disease in children and young adults. If untreated, or treated inappropriately or inadequately, pediatric bone and joint infections can be fatal or result in morbidity that causes significant functional disabilities to the patient and economic burden to the family and the community at large. The past decade has witnessed many advances in this field with respect to early diagnosis, management, and prevention of complications. It is important to discuss the current controversies in the management of pediatric MSIs with an international perspective. This discussion should include the controversies associated with the early diagnosis and identification of pediatric MSI in diverse settings; the controversies involved in the nonsurgical and surgical management of acute pediatric MSIs; and the controversies associated with the management of sequelae of pediatric MSI.


Asunto(s)
Artritis Infecciosa , Enfermedades Musculoesqueléticas , Adulto Joven , Humanos , Niño , Progresión de la Enfermedad , Huesos , Enfermedades Musculoesqueléticas/diagnóstico , Enfermedades Musculoesqueléticas/terapia
5.
Bone Joint J ; 105-B(3): 231-238, 2023 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-36854326

RESUMEN

The 'pink, pulseless hand' is often used to describe the clinical situation in which a child with a supracondylar fracture of the humerus has normal distal perfusion in the absence of a palpable peripheral pulse. The management guidelines are based on the assessment of perfusion, which is difficult to undertake and poorly evaluated objectively. The aim of this study was to review the available literature in order to explore the techniques available for the preoperative clinical assessment of perfusion in these patients and to evaluate the clinical implications. A systematic literature review was conducted using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines and registered prospectively with the International Prospective Register of Systematic Reviews. Databases were explored in June 2022 with the search terms (pulseless OR dysvascular OR ischaemic OR perfused OR vascular injury) AND supracondylar AND (fracture OR fractures). A total of 573 papers were identified as being suitable for further study, and 25 met the inclusion criteria for detailed analysis. These studies included a total of 504 patients with a perfused, pulseless limb associated with a supracondylar humeral fracture. Clinical examination included skin colour (23 studies (92%)), temperature (16 studies (64%)), and capillary refill time (13 studies (52%)). Other investigations included peripheral oxygen saturation (SaO2) (six studies (24%)), ultrasound (US) (14 (56%)), and CT angiogram (two studies (8.0%)). The parameters of 'normal perfusion' were often not objectively defined. The time to surgery ranged from 1.5 to 12 hours. A total of 412 patients (82%) were definitively treated with closed or open reduction and fixation, and 92 (18%) required vascular intervention, ranging from simple release of entrapped vessels to vascular grafts. The description of the vascular assessment of the patient with a supracondylar humeral fracture and a pulseless limb in the literature is variable, with few objective criteria being used to define perfusion. The evidence base for decision-making is limited, and further research is required. We were able, however, to make some recommendations about objective criteria for the assessment of these patients, and we suggest that these are performed frequently to allow the detection of any deterioration of perfusion.


Asunto(s)
Fracturas del Húmero , Niño , Humanos , Fracturas del Húmero/complicaciones , Fracturas del Húmero/diagnóstico por imagen , Fracturas del Húmero/cirugía , Húmero , Extremidad Superior , Examen Físico , Bases de Datos Factuales
6.
Cureus ; 14(7): e26810, 2022 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-35971367

RESUMEN

INTRODUCTION: Virtual teaching has proven effective for medical students during the COVID-19 pandemic. This study is the first to describe an undergraduate orthopaedic teaching strategy in the format of virtual trauma meetings (VTM). METHODS: Clinical medical students from the Universities of Bristol and Cardiff were invited to attend five VTM between October and November 2020. These were delivered by consultants and speciality doctors via Zoom software. An 11-item feedback form was distributed after each session to assess the relevance of teaching material, student confidence in asking and answering questions, and if students would benefit from further sessions. Several open-ended questions were designed to evaluate aspects of the session that were most useful, which orthopaedic topics were of high priority and if they had any suggestions for improvement. Our initial aim was to assess student acceptance of the virtual format. Several months later pre-recorded material was uploaded onto YouTube and post hoc questionnaires were analysed. RESULTS: A total of 50 students attended, with a median of 11±6 attending per session, producing a total of 26 feedback responses. Among the responders, there were 10 males and nine females and 63% of the students were in their third year. 100% of students felt comfortable asking questions and 96% felt comfortable answering questions. X-ray interpretation and management of fractures were the highest priority subjects. The majority of students considered the interaction between senior and junior doctors most valuable, and the most common improvement suggested was the inclusion of polls or OSCE-styled questions. CONCLUSIONS: VTM could be a useful resource to enhance undergraduate trauma and orthopaedic (T&O) education by providing student-focused material in an open learning environment.

7.
Bone Joint J ; 104-B(4): 510-518, 2022 04.
Artículo en Inglés | MEDLINE | ID: mdl-35360941

RESUMEN

AIMS: The aim of this study was to evaluate the epidemiology and treatment of Perthes' disease of the hip. METHODS: This was an anonymized comprehensive cohort study of Perthes' disease, with a nested consented cohort. A total of 143 of 144 hospitals treating children's hip disease in the UK participated over an 18-month period. Cases were cross-checked using a secondary independent reporting network of trainee surgeons to minimize those missing. Clinician-reported outcomes were collected until two years. Patient-reported outcome measures (PROMs) were collected for a subset of participants. RESULTS: Overall, 371 children (396 hips) were newly affected by Perthes' disease arising from 63 hospitals, with a median of two patients (interquartile range 1.0 to 5.5) per hospital. The annual incidence was 2.48 patients (95% confidence interval (CI) 2.20 to 2.76) per 100,000 zero- to 14-year-olds. Of these, 117 hips (36.4%) were treated surgically. There was considerable variation in the treatment strategy, and an optimized decision tree identified joint stiffness and age above eight years as the key determinants for containment surgery. A total of 348 hips (88.5%) had outcomes to two years, of which 227 were in the late reossification stage for which a hip shape outcome (Stulberg grade) was assigned. The independent predictors of a poorer radiological outcome were female sex (odds ratio (OR) 2.27 (95% CI 1.19 to 4.35)), age above six years (OR 2.62 (95% CI (1.30 to 5.28)), and over 50% radiological collapse at inclusion (OR 2.19 (95% CI 0.99 to 4.83)). Surgery had no effect on radiological outcomes (OR 1.03 (95% CI 0.55 to 1.96)). PROMs indicated the marked effect of the disease on the child, which persisted at two years. CONCLUSION: Despite the frequency of containment surgery, we found no evidence of improved outcomes. There appears to be a sufficient case volume and community equipoise among surgeons to embark on a randomized clinical trial to definitively investigate the effectiveness of containment surgery. Cite this article: Bone Joint J 2022;104-B(4):510-518.


Asunto(s)
Procedimientos Ortopédicos , Niño , Estudios de Cohortes , Femenino , Estudios de Seguimiento , Humanos , Estudios Prospectivos , Resultado del Tratamiento , Reino Unido/epidemiología
8.
Bone Joint J ; 104-B(4): 519-528, 2022 04.
Artículo en Inglés | MEDLINE | ID: mdl-35360942

RESUMEN

AIMS: The aim of this study was to inform the epidemiology and treatment of slipped capital femoral epiphysis (SCFE). METHODS: This was an anonymized comprehensive cohort study, with a nested consented cohort, following the the Idea, Development, Exploration, Assessment, Long-term study (IDEAL) framework. A total of 143 of 144 hospitals treating SCFE in Great Britain participated over an 18-month period. Patients were cross-checked against national administrative data and potential missing patients were identified. Clinician-reported outcomes were collected until two years. Patient-reported outcome measures (PROMs) were collected for a subset of participants. RESULTS: A total of 486 children (513 hips) were newly affected, with a median of two patients (interquartile range 0 to 4) per hospital. The annual incidence was 3.34 (95% confidence interval (CI) 3.01 to 3.67) per 100,000 six- to 18-year-olds. Time to diagnosis in stable disease was increased in severe deformity. There was considerable variation in surgical strategy among those unable to walk at diagnosis (66 urgent surgery vs 43 surgery after interval delay), those with severe radiological deformity (34 fixation with deformity correction vs 36 without correction) and those with unaffected opposite hips (120 prophylactic fixation vs 286 no fixation). Independent risk factors for avascular necrosis (AVN) were the inability of the child to walk at presentation to hospital (adjusted odds ratio (aOR) 4.4 (95% CI 1.7 to 11.4)) and surgical technique of open reduction and internal fixation (aOR 7.5 (95% CI 2.4 to 23.2)). Overall, 33 unaffected untreated opposite hips (11.5%) were treated for SCFE by two-year follow-up. Age was the only independent risk factor for contralateral SCFE, with age under 12.5 years the optimal cut-off to define 'at risk'. Of hips treated with prophylactic fixation, none had SCFE, though complications included femoral fracture, AVN, and revision surgery. PROMs demonstrated the marked impact on quality of life on the child because of SCFE. CONCLUSION: The experience of individual hospitals is limited and mechanisms to consolidate learning may enhance care. Diagnostic delays were common and radiological severity worsened with increasing time to diagnosis. There was unexplained variation in treatment, some of which exposes children to significant risks that should be evaluated through randomized controlled trials. Cite this article: Bone Joint J 2022;104-B(4):519-528.


Asunto(s)
Necrosis de la Cabeza Femoral , Epífisis Desprendida de Cabeza Femoral , Niño , Estudios de Cohortes , Necrosis de la Cabeza Femoral/etiología , Fijación Interna de Fracturas/efectos adversos , Humanos , Estudios Prospectivos , Calidad de Vida , Estudios Retrospectivos , Epífisis Desprendida de Cabeza Femoral/diagnóstico por imagen , Epífisis Desprendida de Cabeza Femoral/epidemiología , Epífisis Desprendida de Cabeza Femoral/cirugía , Reino Unido/epidemiología
9.
Bone Joint J ; 103-B(6): 1160-1167, 2021 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-34058876

RESUMEN

AIMS: Open tibial fractures are limb-threatening injuries. While limb loss is rare in children, deep infection and nonunion rates of up to 15% and 8% are reported, respectively. We manage these injuries in a similar manner to those in adults, with a combined orthoplastic approach, often involving the use of vascularised free flaps. We report the orthopaedic and plastic surgical outcomes of a consecutive series of patients over a five-year period, which includes the largest cohort of free flaps for trauma in children to date. METHODS: Data were extracted from medical records and databases for patients with an open tibial fracture aged < 16 years who presented between 1 May 2014 and 30 April 2019. Patients who were transferred from elsewhere were excluded, yielding 44 open fractures in 43 patients, with a minimum follow-up of one year. Management was reviewed from the time of injury to discharge. Primary outcome measures were the rate of deep infection, time to union, and the Modified Enneking score. RESULTS: The mean age of the patients was 9.9 years (2.8 to 15.8), and 28 were male (64%). A total of 30 fractures (68%) involved a motor vehicle collision, and 34 (77%) were classified as Gustilo Anderson (GA) grade 3B. There were 17 (50%) GA grade 3B fractures, which were treated with a definitive hexapod fixator, and 33 fractures (75%) were treated with a free flap, of which 30 (91%) were scapular/parascapular or anterolateral thigh (ALT) flaps. All fractures united at a median of 12.3 weeks (interquartile range (IQR) 9.6 to 18.1), with increasing age being significantly associated with a longer time to union (p = 0.005). There were no deep infections, one superficial wound infection, and the use of 20 fixators (20%) was associated with a pin site infection. The median Enneking score was 90% (IQR 87.5% to 95%). Three patients had a bony complication requiring further surgery. There were no flap failures, and eight patients underwent further plastic surgery. CONCLUSION: The timely and comprehensive orthoplastic care of open tibial fractures in this series of patiemts aged < 16 years resulted in 100% union and 0% deep infection, with excellent patient-reported functional outcomes. Cite this article: Bone Joint J 2021;103-B(6):1160-1167.


Asunto(s)
Fracturas Abiertas/cirugía , Reducción Abierta/métodos , Fracturas de la Tibia/cirugía , Adolescente , Niño , Preescolar , Inglaterra/epidemiología , Femenino , Estudios de Seguimiento , Colgajos Tisulares Libres/irrigación sanguínea , Humanos , Masculino , Estudios Retrospectivos , Infección de la Herida Quirúrgica/epidemiología , Centros Traumatológicos
11.
Eur J Orthop Surg Traumatol ; 31(5): 901-909, 2021 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-33978864

RESUMEN

AIMS: This review provides a summary of recent evidence surrounding the treatment of paediatric tibial shaft fractures and presents an algorithm to aid management of these injuries. This article reviews the relevant anatomy, epidemiology and aetiology of tibial shaft fractures and summarises contemporary treatment principles. Management recommendations and supporting evidence are given for fractures according to age (< 18 months, 18 months-5 years, 6-12 years, and 13-18 years). The relative merits of casting, plate fixation, elastic and rigid intramedullary nailing, and external fixation are discussed. Special attention is paid to the management of open tibial shaft fractures and to complications including infection and acute compartment syndrome. CONCLUSIONS: There has been a shift away from non-operative management of paediatric tibial shaft fractures over the last 30 years. However, recent evidence highlights that a non-operative approach produces acceptable outcomes when used in simple closed fractures at any age. Operative management may be indicated for unstable fractures where satisfactory alignment cannot be maintained or in specific circumstances including open injuries and polytrauma. Open injuries require urgent assessment by a combined orthopaedic and plastic surgery team at a specialist tertiary centre.


Asunto(s)
Fijación Intramedular de Fracturas , Fracturas Abiertas , Fracturas de la Tibia , Niño , Fijación de Fractura , Curación de Fractura , Fracturas Abiertas/diagnóstico por imagen , Fracturas Abiertas/cirugía , Humanos , Fracturas de la Tibia/diagnóstico por imagen , Fracturas de la Tibia/cirugía , Resultado del Tratamiento
12.
Eur J Orthop Surg Traumatol ; 31(5): 883-892, 2021 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-33839930

RESUMEN

This article discusses the incidence, applied anatomy and classification of paediatric femoral fractures based on critical appraisal of the available evidence. The aim is to identify techniques that are relevant to contemporary practice whilst excluding the technical details of individual procedures that are beyond the scope of this review. Injuries of the proximal, diaphyseal and distal segments are considered individually as there are considerations that are specific to each anatomical site. Femoral neck fractures are rare injuries and require prompt anatomical reduction and stable fixation to minimise the potentially devastating consequences of avascular necrosis. Diaphyseal fractures are relatively common, and there is a spectrum of management options that depend on patient age and size. Distal femoral fractures often involve the physis, which contributes up to 70% of femoral length. Growth arrest is common consequence of fractures in this region, resulting in angular and length-related deformity. Long-term surveillance is recommended to identify deformity in evolution and provide an opportunity for early intervention. Deliberate injury should be considered in all fractures, particularly distal femoral physeal injuries and fractures in the non-walking child.


Asunto(s)
Fracturas del Fémur , Fracturas del Cuello Femoral , Niño , Fracturas del Fémur/cirugía , Fémur , Placa de Crecimiento , Humanos , Estudios Retrospectivos
13.
Eur J Orthop Surg Traumatol ; 31(5): 871-881, 2021 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-33744996

RESUMEN

PURPOSE: Supracondylar fractures are common injuries accounting for approximately 15% of all fractures in children with a large body of literature on this subject. METHODS:  This article critically appraises the available evidence to provide an overview of the treatment options including the role and timing of surgery, the geometry of wire fixation and the management of nerve and arterial injury. CONCLUSION:  Management decisions are based on a number of considerations particularly fracture stability. Closed reduction and percutaneous K-wire stabilisation are commonly recommended for an unstable displaced fracture. These techniques are however associated with the potential for iatrogenic neurological injury. Vascular injury is also rare but must be recognised and treated promptly to avoid significant permanent morbidity.


Asunto(s)
Fracturas del Húmero , Lesiones del Sistema Vascular , Hilos Ortopédicos , Niño , Fijación Interna de Fracturas , Humanos , Fracturas del Húmero/diagnóstico por imagen , Fracturas del Húmero/cirugía , Estudios Retrospectivos , Resultado del Tratamiento , Lesiones del Sistema Vascular/etiología , Lesiones del Sistema Vascular/cirugía
14.
Am J Med Genet A ; 185(4): 1228-1235, 2021 04.
Artículo en Inglés | MEDLINE | ID: mdl-33439541

RESUMEN

Spondylometaphyseal dysplasia with cerebral hypomyelination (SMD-H) is a very rare but distinctive phenotype, unusually combining spondylometaphyseal dysplasia with hypomyelinating leukodystrophy. Recently, SMD-H has been associated with variants confined to a specific intra-genic locus involving Exon 7, suggesting that AIFM1 plays an important role in bone development and metabolism as well as cerebral myelination. Here we describe two further affected boys, one with a novel intronic variant associated with skipping of Exon 7 of AIFM1 and the other a synonymous variant within Exon 7 of AIFM1. We describe their clinical course and radiological and genetic findings, providing further insight into the natural history of this condition.


Asunto(s)
Factor Inductor de la Apoptosis/genética , Enfermedades Genéticas Ligadas al Cromosoma X/genética , Predisposición Genética a la Enfermedad , Malformaciones del Sistema Nervioso/genética , Osteocondrodisplasias/genética , Desarrollo Óseo/genética , Exones , Enfermedades Genéticas Ligadas al Cromosoma X/diagnóstico , Enfermedades Genéticas Ligadas al Cromosoma X/diagnóstico por imagen , Enfermedades Genéticas Ligadas al Cromosoma X/patología , Humanos , Masculino , Mutación/genética , Malformaciones del Sistema Nervioso/diagnóstico , Malformaciones del Sistema Nervioso/diagnóstico por imagen , Malformaciones del Sistema Nervioso/patología , Osteocondrodisplasias/diagnóstico , Osteocondrodisplasias/diagnóstico por imagen , Osteocondrodisplasias/patología , Linaje
15.
J Pediatr Orthop ; 40(7): 351-356, 2020 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-32011547

RESUMEN

BACKGROUND: This long-term consecutive, retrospective single-center cohort study evaluates long-term outcomes of single-event multilevel surgery in diplegic cerebral palsy with respect to functional status, gait, and patient satisfaction. METHODS: All patients with diplegic cerebral palsy who underwent single-event multilevel surgery >10 years previously were included. Retrospective gait assessment was performed using the Edinburgh Visual Gait Score (EVGS) and Gillette Functional Assessment Questionnaire Walking Scale (FAQWS) preoperatively and at midterm postoperative follow-up (median 2.6 y) and prospectively at most recent review [median 18 y, interquartile (IQ) range: 14.4 to 20.5 y]. The Short Form-36 (SF-36) was used prospectively to evaluate outcome compared with population norms for adults from the UK. RESULTS: The complete assessment was possible in 26 of 39 patients who met the inclusion criteria. There was a statistically significant improvement at most recent follow-up compared with the preoperative assessment for EVGS and FAQWS [Wilcoxon Matched Pairs Signed Rank test -4.42 (P<0.0001) and 3.98 (P=0.0001), respectively]. The median Physical Health and Mental Health Component Summary scores for the SF-36 were 43.0 (IQ range: 32.8 to 46.8) and 55.3 (IQ range: 46.1 to 61.1), respectively. CONCLUSIONS: This study demonstrates significant long-term improvements in function, independence and patient satisfaction that continue into adulthood. This will inform discussions with patients and families considering this treatment option. LEVEL OF EVIDENCE: Level IV-Retrospective cohort study.


Asunto(s)
Parálisis Cerebral , Efectos Adversos a Largo Plazo , Procedimientos Ortopédicos , Tiempo , Adolescente , Parálisis Cerebral/diagnóstico , Parálisis Cerebral/fisiopatología , Parálisis Cerebral/cirugía , Niño , Femenino , Estudios de Seguimiento , Análisis de la Marcha , Humanos , Efectos Adversos a Largo Plazo/diagnóstico , Efectos Adversos a Largo Plazo/epidemiología , Efectos Adversos a Largo Plazo/etiología , Masculino , Procedimientos Ortopédicos/efectos adversos , Procedimientos Ortopédicos/métodos , Procedimientos Ortopédicos/rehabilitación , Evaluación de Procesos y Resultados en Atención de Salud , Recuperación de la Función , Estudios Retrospectivos
17.
Am J Med Genet A ; 179(9): 1884-1894, 2019 09.
Artículo en Inglés | MEDLINE | ID: mdl-31313512

RESUMEN

Brachyolmia is a skeletal dysplasia characterized by short spine-short stature, platyspondyly, and minor long bone abnormalities. We describe 18 patients, from different ethnic backgrounds and ages ranging from infancy to 19 years, with the autosomal recessive form, associated with PAPSS2. The main clinical features include disproportionate short stature with short spine associated with variable symptoms of pain, stiffness, and spinal deformity. Eight patients presented prenatally with short femora, whereas later in childhood their short-spine phenotype emerged. We observed the same pattern of changing skeletal proportion in other patients. The radiological findings included platyspondyly, irregular end plates of the elongated vertebral bodies, narrow disc spaces and short over-faced pedicles. In the limbs, there was mild shortening of femoral necks and tibiae in some patients, whereas others had minor epiphyseal or metaphyseal changes. In all patients, exome and Sanger sequencing identified homozygous or compound heterozygous PAPSS2 variants, including c.809G>A, common to white European patients. Bi-parental inheritance was established where possible. Low serum DHEAS, but not overt androgen excess was identified. Our study indicates that autosomal recessive brachyolmia occurs across continents and may be under-recognized in infancy. This condition should be considered in the differential diagnosis of short femora presenting in the second trimester.


Asunto(s)
Enanismo/genética , Complejos Multienzimáticos/genética , Anomalías Musculoesqueléticas/genética , Osteocondrodisplasias/genética , Sulfato Adenililtransferasa/genética , Adolescente , Adulto , Niño , Preescolar , Enanismo/diagnóstico por imagen , Enanismo/fisiopatología , Femenino , Genes Recesivos/genética , Predisposición Genética a la Enfermedad , Homocigoto , Humanos , Lactante , Recién Nacido , Masculino , Anomalías Musculoesqueléticas/diagnóstico por imagen , Anomalías Musculoesqueléticas/fisiopatología , Osteocondrodisplasias/diagnóstico por imagen , Osteocondrodisplasias/fisiopatología , Linaje , Radiografía , Columna Vertebral/diagnóstico por imagen , Columna Vertebral/fisiopatología , Secuenciación del Exoma , Adulto Joven
18.
Orphanet J Rare Dis ; 14(1): 139, 2019 06 13.
Artículo en Inglés | MEDLINE | ID: mdl-31196103

RESUMEN

Fibrous Dysplasia / McCune Albright syndrome (FD/MAS) represents a wide spectrum of diseases due to somatic gain-of-function mutations of the GNAS gene. The mutation leads to overactivity in the target tissues and to a wide phenotype of clinical features that vary in severity and age of onset. The rarity of the disease and its variable presentation to multiple specialities often leads to misdiagnosis and inappropriate variability in investigations and treatments. To address this, our international consortium of clinicians, researchers, and patients' advocates has developed pragmatic clinical guidelines for best clinical practice for the definition, diagnosis, staging, treatment and monitoring for FD/MAS to empower patients and support clinical teams in both general and specialised healthcare settings. With the lack of strong evidence to inform care, the guidelines were developed based on review of published literature, long-standing extensive experience of authors, input from other healthcare professionals involved in the care of FD/MAS patients and feedback from patients and patient groups across the globe. This has led to the formulation of a set of statements to inform healthcare professionals, patients, their families, carers and patient groups of the best practice of care. It is anticipated the implementation of these recommendations will lead to improvement in the care of patients with FD/MAS internationally.


Asunto(s)
Displasia Fibrosa Poliostótica/diagnóstico por imagen , Displasia Fibrosa Ósea/diagnóstico por imagen , Humanos
19.
Eur J Orthop Surg Traumatol ; 27(8): 1157-1162, 2017 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-28547676

RESUMEN

BACKGROUND: Rotational malalignment is an important and not always avoidable complication after surgical treatment of femoral shaft fractures. The purpose of this study was to determine the incidence of rotational malalignment in children after surgical treatment of femoral shaft fractures and to identify potential patient- and treatment-related risk factors based on data obtained from CT scans. METHODS: We conducted a retrospective analysis of all patients aged less than 15 years with femoral shaft fractures admitted to our level 1 trauma centre between January 2004 and July 2014. Patients having obtained postoperative CT scans were included for the determination of rotational malalignment. A difference of greater than 15° in femoral torsion between both legs was considered as clinically relevant. Additionally, demographic data and clinical information such as fracture type, treatment method, fluoroscopy time and operating time were reviewed. RESULTS: A total of 24 patients were enrolled in this study. Clinically relevant femoral malrotation was identified in 10 patients (41.6%). Surgical revision was performed in 7 patients (29.2%). There was no association between the type of surgical procedure, age and the incidence and/or amount of femoral malrotation. CONCLUSIONS: The data suggest that relevant femoral malrotation is an evident problem after surgical treatment of femoral shaft fractures in children that requires critical postoperative assessment. LEVEL OF EVIDENCE: Level III, retrospective study.


Asunto(s)
Anteversión Ósea/etiología , Desviación Ósea/etiología , Fracturas del Fémur/cirugía , Fijación Interna de Fracturas/instrumentación , Anteversión Ósea/diagnóstico por imagen , Desviación Ósea/diagnóstico por imagen , Desviación Ósea/fisiopatología , Niño , Preescolar , Diáfisis/lesiones , Diáfisis/cirugía , Fijadores Externos , Femenino , Fracturas del Fémur/complicaciones , Fracturas del Fémur/fisiopatología , Fijación Interna de Fracturas/efectos adversos , Humanos , Fijadores Internos , Masculino , Reoperación , Estudios Retrospectivos , Factores de Riesgo , Rotación , Tomografía Computarizada por Rayos X
20.
Trop Doct ; 47(3): 279-282, 2017 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-28162047

RESUMEN

Hand deformities cause a large surgical burden on Cambodian society. They significantly affect the quality of life, limit hand function and can cause severe mental health issues. The visited surgical centre provides free rehabilitative surgery in Phnom Penh for those unable to afford private or public healthcare. As part of the postoperative care provided, a team of local Khmer physiotherapists help patients with early mobilisation, passive and active movements, and functional exercises. Leaflets are widespread in high-income countries, but are scarce in low-income countries. This study suggests a patient information leaflet to help with patient education after their discharge from hospital. The main challenges identified during the creation of such a leaflet were the low levels of education, low literacy and poor understanding of the disease process. A simple visual leaflet was created and will help reduce the anxiety and stress associated with hand disfigurement in this region.


Asunto(s)
Terapia por Ejercicio/instrumentación , Traumatismos de la Mano/rehabilitación , Folletos , Educación del Paciente como Asunto/métodos , Centros Quirúrgicos , Materiales de Enseñanza/normas , Cambodia , Diseño de Equipo , Humanos
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