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1.
J Clin Endocrinol Metab ; 105(8)2020 08 01.
Artículo en Inglés | MEDLINE | ID: mdl-32413110

RESUMEN

CONTEXT: Data regarding high-resolution peripheral quantitative computed tomography (HR-pQCT) in patients with adrenal incidentaloma (AI) are unknown. PURPOSE: To evaluate the areal bone mineral density (aBMD), microstructure, and fractures in patients with nonfunctioning AI (NFAI) and autonomous cortisol secretion (ACS). METHODS: We evaluated 45 patients with NFAI (1 mg dexamethasone suppression test [DST] ≤1.8 µg/dL) and 30 patients with ACS (1 mg DST 1.9-5.0 µg/dL). aBMD was measured using dual-energy X-ray absorptiometry; vertebral fracture by spine X-ray; and bone geometry, volumetric bone mineral density (vBMD), and microstructure by HR-pQCT. RESULTS: Patients with ACS showed lower aBMD values at the spine, femoral neck, and radius 33% than those with NFAI. Osteoporosis was frequent in both groups: NFAI (64.9%) and ACS (75%). Parameters at the distal radius by HR-pQCT were decreased in patients with ACS compared to those with NFAI: trabecular vBMD (Tb.vBMD, P = 0.03), inner zone of the trabecular region (Inn.Tb.vBMD, P = 0.01), the bone volume/tissue volume ratio (BV/TV, P = 0.03) and trabecular thickness (P = 0.04). As consequence, a higher ratio of the outer zone of the trabecular region/inner zone vBMD (Meta/Inn.vBMD, P = 0.003) was observed. A correlation between the cortisol levels after 1 mg DST and Meta/Inn.vBMD ratio was found (r = 0.29; P = 0.01). The fracture frequency was 73.7% in patients with ACS vs 55.6% in patients with NFAI (P = 0.24). CONCLUSION: Our findings point to an association between trabecular bone microarchitectural derangement at the distal radius and ACS. Our data suggest that AI have a negative impact on bone when assessed by HR-pQCT, probably associated to subclinical hypercortisolism.


Asunto(s)
Neoplasias de las Glándulas Suprarrenales/complicaciones , Hueso Esponjoso/patología , Síndrome de Cushing/diagnóstico , Fracturas Espontáneas/diagnóstico , Procesamiento de Imagen Asistido por Computador , Fracturas de la Columna Vertebral/diagnóstico , Tomografía Computarizada por Rayos X/métodos , Absorciometría de Fotón , Corteza Suprarrenal/patología , Neoplasias de las Glándulas Suprarrenales/sangre , Neoplasias de las Glándulas Suprarrenales/patología , Adulto , Anciano , Densidad Ósea , Hueso Esponjoso/diagnóstico por imagen , Estudios Transversales , Síndrome de Cushing/sangre , Síndrome de Cushing/etiología , Femenino , Fracturas Espontáneas/etiología , Fracturas Espontáneas/patología , Humanos , Hidrocortisona/sangre , Hidrocortisona/metabolismo , Masculino , Persona de Mediana Edad , Fracturas de la Columna Vertebral/etiología , Fracturas de la Columna Vertebral/patología
2.
J Hand Surg Am ; 44(4): 344.e1-344.e5, 2019 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-29804696

RESUMEN

Trapeziectomy with suture-button suspensionplasty is a surgical treatment option for thumb carpometacarpal osteoarthritis refractory to nonsurgical management. We describe the cases of 3 patients who presented with index metacarpal fracture, in the absence of traumatic injury, over 4 months after trapeziectomy with suture-button suspensionplasty. All 3 fractures demonstrated the same pattern: short oblique/spiral, oriented proximal radial to distal ulnar with the distal end in the vicinity of the index metacarpal button, presumably after the orientation of the metacarpal drill hole. Two of the fractures were treated with surgical fixation. Fracture healing was obtained in all cases. Two of the 3 patients remained symptomatic with thumb pain, but decided against revision treatment for the carpometacarpal osteoarthritis. The third underwent restabilization of the suture button at the time of fracture fixation. Although uncommon, index metacarpal fracture after trapeziectomy with suture-button suspensionplasty can present without trauma several months after surgery.


Asunto(s)
Articulaciones Carpometacarpianas/cirugía , Fracturas Espontáneas/etiología , Huesos del Metacarpo/lesiones , Procedimientos Ortopédicos/efectos adversos , Osteoartritis/cirugía , Hueso Trapecio/cirugía , Femenino , Fijación Interna de Fracturas , Curación de Fractura , Fracturas Espontáneas/terapia , Humanos , Inmovilización , Masculino , Persona de Mediana Edad , Dispositivos de Fijación Ortopédica , Complicaciones Posoperatorias , Pulgar/cirugía
3.
Acta ortop. mex ; 32(5): 283-286, Sep.-Oct. 2018. graf
Artículo en Español | LILACS | ID: biblio-1124109

RESUMEN

Resumen: Introducción: Se define fractura patológica a la que se produce a través de un hueso anormal. Cada año se diagnostican aproximadamente 20,000 neoplasias benignas del sistema musculoesquelético. A menudo, el dolor de la fractura es el primer síntoma de un proceso patológico en el hueso. El sitio, la edad y la apariencia radiográfica crean un diagnóstico diferencial para las fracturas patológicas que sigue siendo amplio. El examen clínico evalúa la condición de la piel, palpar cualquier masa de tejido y determinar si hay signos inflamatorios locales como eritema, calor o edema. La toma de biopsia es muy recomendable para confirmar el diagnóstico de una fractura patológica. Objetivo: Determinar qué tumores óseos benignos y qué lesiones seudotumorales producen fracturas en huesos de niños con mayor frecuencia en nuestro hospital. Material y métodos: Estudio retrospectivo transversal, se revisaron expedientes de pacientes con diagnóstico de fractura en terreno patológico, atendidos en el período de Marzo de 2013 a Marzo de 2017. Resultados: Los tumores benignos que ocasionaron fracturas en terreno previamente dañado fueron: quiste óseo aneurismático 13, encondroma cinco, osteoma osteoide tres, tumor de células gigantes dos. Conclusión: En nuestra institución, los quistes óseos aneurismáticos fueron los tumores benignos que con mayor frecuencia producen fracturas patológicas en niños, con predominio en el sexo masculino.


Abstract: Introduction: A pathological fracture is defined as that which occurs through an abnormal bone. Approximately 20,000 benign neoplasms of the musculoskeletal system are diagnosed each year. Often the pain of the fracture is the first symptom of a pathological process in the bone. The site, age and radiographic appearance create a differential diagnosis for pathological fractures that remains broad. The clinical examination evaluates the condition of the skin, palpating any tissue mass and determining if there are local inflammatory signs such as erythema, heat or edema. The biopsy is highly recommended to confirm the diagnosis of a pathological fracture. Objective: To determine which benign bone tumors and pseudotumoral lesions produce fractures in children's bones more frequently in our institution. Material and methods: Cross-sectional retrospective study, review of records of patients with diagnosis of pathological fracture, attended in the period from March 2013 to March 2017, were reviewed. Results: The benign tumors that caused fractures in previously damaged areas were: aneurysmal bone cyst 13, enchondroma 5, osteoid osteoma 3, giant cell tumor 2. Conclusion: At our institution, aneurysmal bone cysts were the benign tumors that most frequently produce pathological fractures in children, with predominance in males.


Asunto(s)
Humanos , Masculino , Femenino , Niño , Estudios Retrospectivos , Quistes Óseos Aneurismáticos/complicaciones , Estudios Transversales , Fracturas Espontáneas/etiología
4.
Acta ortop. mex ; 32(5): 291-296, Sep.-Oct. 2018. tab, graf
Artículo en Español | LILACS | ID: biblio-1124111

RESUMEN

Resumen: Introducción: La picnodisostosis es una rara enfermedad secundaria en una mutación en el gen 1q21 que codifica la catepsina K, enzima implicada en el metabolismo de osteonectina, osteopontina y colágeno I. La incidencia mundial es de 1-1.7 casos por millón, sin prevalencia por género, se caracteriza clínicamente por talla baja, deformidades craneales, «cara de pájaro¼ y fragilidad ósea con tendencia a fracturas patológicas, que afectan predominantemente los huesos largos y ocasionalmente en los pedículos vertebrales. Radiológicamente es característica la presencia de osteoesclerosis con canales medulares permeables. Aunque existen numerosos reportes de casos clínicos en la literatura, pocos son los que describen familias con más de un individuo afectado y el seguimiento suele ser a corto plazo. Objetivo: Analizar la evolución clínica de los pacientes afectados. Material y métodos: Se realizó estudio retrospectivo, descriptivo, observacional de tres pacientes con diagnóstico de picnodisostosis, en el período de Julio 2006 a Marzo de 2016. Resultados: Se observaron diferentes formas de afectación de la picnodisostosis, algunas de ellas atípicas como la espondilólisis y una fractura de escápula en una paciente. Conclusiones: El presente estudio podría ser el análisis longitudinal más extenso del que se tenga registro. Conocer la variedad de manifestaciones y complicaciones presentadas permitirá al lector seleccionar el mejor método de tratamiento para cada caso.


Abstract: Introduction: Pycnodysostosis is a rare disease secondary to a mutation in gen 1q21 that codifies the cathepsin K, proteolitic enzyme implicated in the metabolism of osteonectin, osteopontin and type I colagen. Its global incidence is around 1-1.7 cases per million, without genre prevalences, it is clinically caracterized by short stature, craneal deformities, «bird's face¼ and bone fragility with pathological fractures tendency predominantly affecting long bones and occasionally vertebral pedicles. Radiologically is characterized by sclerous bones with permeable medular cannel. Despite there are numerous clinical reports on medical literature, just a litlle describe families with more than one afected member and its followship is usually short-term. Objective: To analize clinical evolution of these afected patients. Material and methods: A retrospective, descriptive, observational study was reelized in three patients with diagnosis of pycnodisostosis, between July 2006 and March 2016. Results: different affection forms of pycnodisostosis where observed, some of them, atipical, as for example spondilolisis and a escapule fracture in one patien. Conclusions: The present study could be the longest longitudinal report ever registered. By knowing the presented variety of manifestations and complications, the reader could select the best treatment method for each case.


Asunto(s)
Humanos , Picnodisostosis/complicaciones , Picnodisostosis/diagnóstico , Fracturas Espontáneas/etiología , Estudios Retrospectivos , Estudios de Seguimiento , Catepsina K/genética
5.
Adv Rheumatol ; 58(1): 42, 2018 12 13.
Artículo en Inglés | MEDLINE | ID: mdl-30657094

RESUMEN

BACKGROUND: It has long been established that obesity plays a positive role against osteoporosis (OP) and low-impact fractures (Fx). However, more recent data has shown higher fracture risk in obese individuals. The aim of this study was to investigate the association between BMI, particularly obesity, OP and low-impact Fx in Brazilian women, as well as to evaluate the SAPORI (Sao Paulo Osteoporosis Risk Index) tool performance to identify low BMD according BMI category. METHODS: A total of 6182 women aged over 40 years were included in this cross-sectional analysis using data from two large Brazilian studies. All participants performed hip and spine bone mineral density (BMD) measurements and answered a detailed questionnaire about the presence of clinical risk factors (CRFs) related to low BMD and risk fractures. The World Health Organization (WHO) criteria were used to define obesity. RESULTS: Age-adjusted osteoporosis prevalence was 20.8, 33.6, 47 and 67.1% in obese, overweight, normal and underweight category, respectively. Obesity was present in 29,6% (1.830 women) in the study population and the likelihood of osteoporosis and low-impact Fx compared to a normal BMI in this subgroup was of 0.24 (95% CI 0.20-0.28; p < 0.001) and of 1.68 (95% CI 1.35-2.11; p < 0.001), respectively. However, the hip Fx likelihood was lower in obese compared with non-obese women (OR = 0.44; 95% CI 0.20-0.97). Using an originally validated cut-off, the SAPORI tool sensitivity was significantly hampered in overweight and obese women although the accuracy had remained suitable because of increasing in specificity. CONCLUSIONS: The osteoporosis prevalence reduced as BMI increased and obesity was associated with low-impact Fx, regardless of the BMD measurements. Moreover, the SAPORI performance was impaired in obese women.


Asunto(s)
Índice de Masa Corporal , Densidad Ósea , Fracturas Espontáneas/etiología , Obesidad/complicaciones , Fracturas Osteoporóticas/etiología , Factores de Edad , Peso Corporal , Brasil/epidemiología , Femenino , Cadera , Humanos , Persona de Mediana Edad , Obesidad/epidemiología , Osteoporosis/complicaciones , Osteoporosis/epidemiología , Prevalencia , Factores de Riesgo , Sensibilidad y Especificidad , Columna Vertebral , Delgadez/complicaciones , Delgadez/epidemiología
6.
Acta Ortop Mex ; 32(5): 283-286, 2018.
Artículo en Español | MEDLINE | ID: mdl-30726590

RESUMEN

INTRODUCTION: A pathological fracture is defined as that which occurs through an abnormal bone. Approximately 20,000 benign neoplasms of the musculoskeletal system are diagnosed each year. Often the pain of the fracture is the first symptom of a pathological process in the bone. The site, age and radiographic appearance create a differential diagnosis for pathological fractures that remains broad. The clinical examination evaluates the condition of the skin, palpating any tissue mass and determining if there are local inflammatory signs such as erythema, heat or edema. The biopsy is highly recommended to confirm the diagnosis of a pathological fracture. OBJECTIVE: To determine which benign bone tumors and pseudotumoral lesions produce fractures in childrens bones more frequently in our institution. MATERIAL AND METHODS: Cross-sectional retrospective study, review of records of patients with diagnosis of pathological fracture, attended in the period from March 2013 to March 2017, were reviewed. Results: The benign tumors that caused fractures in previously damaged areas were: aneurysmal bone cyst 13, enchondroma 5, osteoid osteoma 3, giant cell tumor 2. CONCLUSION: At our institution, aneurysmal bone cysts were the benign tumors that most frequently produce pathological fractures in children, with predominance in males.


INTRODUCCIÓN: Se define fractura patológica a la que se produce a través de un hueso anormal. Cada año se diagnostican aproximadamente 20,000 neoplasias benignas del sistema musculoesquelético. A menudo, el dolor de la fractura es el primer síntoma de un proceso patológico en el hueso. El sitio, la edad y la apariencia radiográfica crean un diagnóstico diferencial para las fracturas patológicas que sigue siendo amplio. El examen clínico evalúa la condición de la piel, palpar cualquier masa de tejido y determinar si hay signos inflamatorios locales como eritema, calor o edema. La toma de biopsia es muy recomendable para confirmar el diagnóstico de una fractura patológica. OBJETIVO: Determinar qué tumores óseos benignos y qué lesiones seudotumorales producen fracturas en huesos de niños con mayor frecuencia en nuestro hospital. MATERIAL Y MÉTODOS: Estudio retrospectivo transversal, se revisaron expedientes de pacientes con diagnóstico de fractura en terreno patológico, atendidos en el período de Marzo de 2013 a Marzo de 2017. RESULTADOS: Los tumores benignos que ocasionaron fracturas en terreno previamente dañado fueron: quiste óseo aneurismático 13, encondroma cinco, osteoma osteoide tres, tumor de células gigantes dos. CONCLUSIÓN: En nuestra institución, los quistes óseos aneurismáticos fueron los tumores benignos que con mayor frecuencia producen fracturas patológicas en niños, con predominio en el sexo masculino.


Asunto(s)
Quistes Óseos Aneurismáticos , Fracturas Espontáneas , Quistes Óseos Aneurismáticos/complicaciones , Niño , Estudios Transversales , Femenino , Fracturas Espontáneas/etiología , Humanos , Masculino , Estudios Retrospectivos
7.
Acta Ortop Mex ; 32(5): 291-296, 2018.
Artículo en Español | MEDLINE | ID: mdl-30726592

RESUMEN

INTRODUCTION: Pycnodysostosis is a rare disease secondary to a mutation in gen 1q21 that codifies the cathepsin K, proteolitic enzyme implicated in the metabolism of osteonectin, osteopontin and type I colagen. Its global incidence is around 1-1.7 cases per million, without genre prevalences, it is clinically caracterized by short stature, craneal deformities, «birds face¼ and bone fragility with pathological fractures tendency predominantly affecting long bones and occasionally vertebral pedicles. Radiologically is characterized by sclerous bones with permeable medular cannel. Despite there are numerous clinical reports on medical literature, just a litlle describe families with more than one afected member and its followship is usually short-term. OBJECTIVE: To analize clinical evolution of these afected patients. MATERIAL AND METHODS: A retrospective, descriptive, observational study was reelized in three patients with diagnosis of pycnodisostosis, between July 2006 and March 2016. RESULTS: different affection forms of pycnodisostosis where observed, some of them, atipical, as for example spondilolisis and a escapule fracture in one patien. CONCLUSIONS: The present study could be the longest longitudinal report ever registered. By knowing the presented variety of manifestations and complications, the reader could select the best treatment method for each case.


INTRODUCCIÓN: La picnodisostosis es una rara enfermedad secundaria en una mutación en el gen 1q21 que codifica la catepsina K, enzima implicada en el metabolismo de osteonectina, osteopontina y colágeno I. La incidencia mundial es de 1-1.7 casos por millón, sin prevalencia por género, se caracteriza clínicamente por talla baja, deformidades craneales, «cara de pájaro¼ y fragilidad ósea con tendencia a fracturas patológicas, que afectan predominantemente los huesos largos y ocasionalmente en los pedículos vertebrales. Radiológicamente es característica la presencia de osteoesclerosis con canales medulares permeables. Aunque existen numerosos reportes de casos clínicos en la literatura, pocos son los que describen familias con más de un individuo afectado y el seguimiento suele ser a corto plazo. OBJETIVO: Analizar la evolución clínica de los pacientes afectados. MATERIAL Y MÉTODOS: Se realizó estudio retrospectivo, descriptivo, observacional de tres pacientes con diagnóstico de picnodisostosis, en el período de Julio 2006 a Marzo de 2016. RESULTADOS: Se observaron diferentes formas de afectación de la picnodisostosis, algunas de ellas atípicas como la espondilólisis y una fractura de escápula en una paciente. CONCLUSIONES: El presente estudio podría ser el análisis longitudinal más extenso del que se tenga registro. Conocer la variedad de manifestaciones y complicaciones presentadas permitirá al lector seleccionar el mejor método de tratamiento para cada caso.


Asunto(s)
Fracturas Espontáneas , Picnodisostosis , Catepsina K/genética , Estudios de Seguimiento , Fracturas Espontáneas/etiología , Humanos , Picnodisostosis/complicaciones , Picnodisostosis/diagnóstico , Estudios Retrospectivos
8.
Rev Paul Pediatr ; 35(2): 171-177, 2017.
Artículo en Portugués, Inglés | MEDLINE | ID: mdl-28977334

RESUMEN

OBJECTIVE: To characterize the fracture pattern and the clinical history at the time of diagnosis of osteogenesis imperfecta. METHODS: In this retrospective study, all patients with osteogenesis imperfecta, of both genders, aged 0-18 years, who were treated between 2002 and 2014 were included. Medical records were assessed to collect clinical data, including the presence of blue sclerae, dentinogenesis imperfecta, positive familial history of osteogenesis imperfecta, and the site of the fractures. In addition, radiographic findings at the time of the diagnosis were reviewed. RESULTS: Seventy-six patients (42 females) were included in the study. Individuals' age ranged from 0 to 114 months, with a median (interquartile range) age of 38 (6-96) months. Blue sclerae were present in 93.4% of patients, dentinogenesis imperfecta was observed in 27.6% of patients, and wormian bones in 29.4% of them. The number of fractures at diagnosis ranged from 0 to 17, with a median of 3 (2-8) fractures. Forty (57%) patients had fractures of the upper and lower extremities, and 9 patients also had spinal fractures. The diagnosis was performed at birth in 85.7% of patients with type 3, and 39.3% of those with type 4/5 of the disorder. CONCLUSIONS: Osteogenesis imperfecta is a genetic disorder with distinctive clinical features such as bone fragility, recurrent fractures, blue sclerae, and dentinogenesis imperfecta. It is important to know how to identify these characteristics in order to facilitate the diagnosis, optimize the treatment, and differentiate osteogenesis imperfecta from other disorders that also can lead to fractures.


OBJETIVO: Caracterizar o padrão de fraturas e a história clínica no momento do diagnóstico de osteogênese imperfeita. MÉTODOS: Neste estudo retrospectivo, foram incluídos todos os pacientes com osteogênese imperfeita de ambos os sexos, com idades entre 0 e 18 anos, que realizaram tratamento entre 2002 e 2014. Os prontuários médicos foram revisados para coleta de dados clínicos, incluindo presença de escleras azuladas, dentinogênese imperfeita, história familiar positiva para a doença e locais das fraturas, além de achados radiográficos no momento do diagnóstico. RESULTADOS: Foram incluídos no estudo 76 pacientes (42 do sexo feminino), com idade, no momento do diagnóstico, entre 0 e 114 meses [mediana (p25-p75) de idade de 38 (6-96) meses]. Escleras azuladas estavam presentes em 93,4% dos pacientes, dentinogênese imperfeita foi observada em 27,6% e ossos wormianos em 29,4%. O número de fraturas ao diagnóstico variou entre 0 e 17, com uma mediana de 3 (2-8) fraturas. Em 40 (57%) pacientes, as fraturas eram de membros superiores e inferiores no momento do diagnóstico e, em 9 pacientes também havia fratura vertebral. O diagnóstico foi realizado ao nascimento em 85,7% dos pacientes com o tipo 3 e em 39,3% daqueles com tipo 4/5 da doença. CONCLUSÕES: Osteogênese imperfeita é uma doença genética com características clínicas distintas, tais como fragilidade óssea, fraturas recorrentes, escleras azuladas e dentinogênese imperfeita. É importante saber identificar essas características, facilitando o diagnóstico, otimizando o tratamento e diferenciando de outras doenças que também podem causar fraturas.


Asunto(s)
Fracturas Espontáneas/etiología , Osteogénesis Imperfecta/complicaciones , Osteogénesis Imperfecta/diagnóstico , Adolescente , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Estudios Retrospectivos
9.
Rev. paul. pediatr ; 35(2): 171-177, abr.-jun. 2017. tab, graf
Artículo en Portugués | LILACS | ID: biblio-902827

RESUMEN

RESUMO Objetivo: Caracterizar o padrão de fraturas e a história clínica no momento do diagnóstico de osteogênese imperfeita. Métodos: Neste estudo retrospectivo, foram incluídos todos os pacientes com osteogênese imperfeita de ambos os sexos, com idades entre 0 e 18 anos, que realizaram tratamento entre 2002 e 2014. Os prontuários médicos foram revisados para coleta de dados clínicos, incluindo presença de escleras azuladas, dentinogênese imperfeita, história familiar positiva para a doença e locais das fraturas, além de achados radiográficos no momento do diagnóstico. Resultados: Foram incluídos no estudo 76 pacientes (42 do sexo feminino), com idade, no momento do diagnóstico, entre 0 e 114 meses [mediana (p25-p75) de idade de 38 (6-96) meses]. Escleras azuladas estavam presentes em 93,4% dos pacientes, dentinogênese imperfeita foi observada em 27,6% e ossos wormianos em 29,4%. O número de fraturas ao diagnóstico variou entre 0 e 17, com uma mediana de 3 (2-8) fraturas. Em 40 (57%) pacientes, as fraturas eram de membros superiores e inferiores no momento do diagnóstico e, em 9 pacientes também havia fratura vertebral. O diagnóstico foi realizado ao nascimento em 85,7% dos pacientes com o tipo 3 e em 39,3% daqueles com tipo 4/5 da doença. Conclusões: Osteogênese imperfeita é uma doença genética com características clínicas distintas, tais como fragilidade óssea, fraturas recorrentes, escleras azuladas e dentinogênese imperfeita. É importante saber identificar essas características, facilitando o diagnóstico, otimizando o tratamento e diferenciando de outras doenças que também podem causar fraturas.


ABSTRACT Objective: To characterize the fracture pattern and the clinical history at the time of diagnosis of osteogenesis imperfecta. Methods: In this retrospective study, all patients with osteogenesis imperfecta, of both genders, aged 0-18 years, who were treated between 2002 and 2014 were included. Medical records were assessed to collect clinical data, including the presence of blue sclerae, dentinogenesis imperfecta, positive familial history of osteogenesis imperfecta, and the site of the fractures. In addition, radiographic findings at the time of the diagnosis were reviewed. Results: Seventy-six patients (42 females) were included in the study. Individuals' age ranged from 0 to 114 months, with a median (interquartile range) age of 38 (6-96) months. Blue sclerae were present in 93.4% of patients, dentinogenesis imperfecta was observed in 27.6% of patients, and wormian bones in 29.4% of them. The number of fractures at diagnosis ranged from 0 to 17, with a median of 3 (2-8) fractures. Forty (57%) patients had fractures of the upper and lower extremities, and 9 patients also had spinal fractures. The diagnosis was performed at birth in 85.7% of patients with type 3, and 39.3% of those with type 4/5 of the disorder. Conclusions: Osteogenesis imperfecta is a genetic disorder with distinctive clinical features such as bone fragility, recurrent fractures, blue sclerae, and dentinogenesis imperfecta. It is important to know how to identify these characteristics in order to facilitate the diagnosis, optimize the treatment, and differentiate osteogenesis imperfecta from other disorders that also can lead to fractures.


Asunto(s)
Humanos , Masculino , Femenino , Lactante , Preescolar , Niño , Adolescente , Osteogénesis Imperfecta/complicaciones , Osteogénesis Imperfecta/diagnóstico , Fracturas Espontáneas/etiología , Estudios Retrospectivos
10.
Osteoporos Int ; 28(7): 2187-2193, 2017 07.
Artículo en Inglés | MEDLINE | ID: mdl-28341900

RESUMEN

The majority of tumor-induced osteomalacia cases have been reported in the Northern Hemisphere and Asia. In this first series of South American patients, we show that the clinical presentation and sensitivity of plasmatic fibroblast growth factor 23 and somatostatin analog-based imaging are similar to those described in other populations. INTRODUCTION: Describe the experience of clinical presentation, diagnostic study, and treatment of patients with tumor-induced osteomalacia (TIO) in a South American academic center in comparison to literature. METHODS: Analysis of the records of patients diagnosed with TIO. The clinical presentation, diagnostic studies, and treatment were analyzed. Fibroblast growth factor 23 (FGF23) was measured by ELISA. RESULTS: Six patients were diagnosed with TIO during the studied period. The patients' median age was 53 years (range 22-64). All patients presented with weakness and pain in the extremities. Four experienced fractures during their evolution. The median time to diagnosis was 4.5 years (1-20). Biochemical studies showed hypophosphatemia, median of 1.4 mg/dL (1.2-1.6), with low maximum rates of tubular reabsorption of phosphate adjusted for glomerular filtration rate. FGF23 was elevated in 4/6 patients and inappropriately normal in the other two. In three patients, the location of the tumor was clinically evident and confirmed with anatomical imaging. In the remaining patients, two tumors were located with 68Ga DOTATATE-PET/CT and one with OctreoScan. The causal tumors were located in the lower extremities in five patients and invading the frontal sinus in one patient. In all patients, tumors were successfully removed. Within 14 days, there was normalization of phosphate and FGF23 levels and resolution of clinical symptoms in all patients. In all cases, the histopathology was compatible with a phosphaturic mesenchymal tumor. CONCLUSIONS: The clinical presentation, delay time to diagnosis, FGF23 diagnostic sensitivity and histopathology in this first series of South American patients is similar to those described in other populations. The success of localization by somatostatin analog-based imaging, suggests this may the optimal imaging modality.


Asunto(s)
Neoplasias de Tejido Conjuntivo/diagnóstico , Adulto , Biomarcadores de Tumor/sangre , Neoplasias Óseas/complicaciones , Neoplasias Óseas/diagnóstico , Neoplasias Óseas/cirugía , Femenino , Factor-23 de Crecimiento de Fibroblastos , Factores de Crecimiento de Fibroblastos/sangre , Fracturas Espontáneas/diagnóstico por imagen , Fracturas Espontáneas/etiología , Humanos , Hipofosfatemia/etiología , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Neoplasias de Tejido Conjuntivo/complicaciones , Neoplasias de Tejido Conjuntivo/cirugía , Octreótido/análogos & derivados , Compuestos Organometálicos , Osteomalacia , Síndromes Paraneoplásicos/diagnóstico , Síndromes Paraneoplásicos/etiología , Síndromes Paraneoplásicos/cirugía , Tomografía Computarizada por Tomografía de Emisión de Positrones , Estudios Retrospectivos , Neoplasias de los Tejidos Blandos/complicaciones , Neoplasias de los Tejidos Blandos/diagnóstico , Neoplasias de los Tejidos Blandos/cirugía , Adulto Joven
11.
BMJ Case Rep ; 20172017 Jan 06.
Artículo en Inglés | MEDLINE | ID: mdl-28062429

RESUMEN

Complementary and alternative medicine (CAM) therapies are commonly incorporated into the care of patients with paediatric cancer. Many modalities are safe and effective during cancer treatment and have proved beneficial for symptom relief and quality of life. However, situations where alternative therapy is provided without allopathic medical care supportive care resources can pose a safety risk to patients. This report describes the case of a 16-year-old Chinese girl with metastatic Ewing sarcoma who sought treatment with alternative treatment in Mexico. When her disease progressed with an ensuing significant loss of function, the centre personnel were unable to respond to her acute deterioration or provide necessary medical care. This resulted in her being stranded in a foreign country paralysed, isolated, and with large unanticipated financial expenditures.


Asunto(s)
Neoplasias Óseas/terapia , Terapias Complementarias/efectos adversos , Sarcoma de Ewing/terapia , Adolescente , Neoplasias Óseas/economía , Terapias Complementarias/economía , Costo de Enfermedad , Progresión de la Enfermedad , Resultado Fatal , Femenino , Fracturas Espontáneas/economía , Fracturas Espontáneas/etiología , Humanos , Recurrencia Local de Neoplasia/economía , Recurrencia Local de Neoplasia/etiología , Costillas , Sarcoma de Ewing/economía , Fracturas de la Columna Vertebral/economía , Fracturas de la Columna Vertebral/etiología , Neoplasias de la Columna Vertebral/secundario , Resultado del Tratamiento
12.
Cir Cir ; 85(6): 549-551, 2017.
Artículo en Español | MEDLINE | ID: mdl-27855990

RESUMEN

BACKGROUND: Primary hyperparathyroidism is a disease characterised by the autonomous production of parathyroid hormone. The most common cause is an adenoma, followed by hyperplasia, and rarely carcinoma. CLINICAL CASES: Three cases are presented. The first case is associated with a brown tumour that was diagnosed as hyperplasia after study and surgery. The second case was related to pathological fractures, and a lower right adenoma 236 times bigger than a normal parathyroid was excised. The last case presented with abdominal pain and heartburn. Histopathology reported a carcinoma, which was removed using surgery en bloc. All patients have improved. CONCLUSION: Hyperparathyroidism symptoms are very difficult to identify and diagnose, thus a detailed and broad approach is needed when hyperparathyroidism is suspected.


Asunto(s)
Adenoma/diagnóstico , Carcinoma/diagnóstico , Hiperparatiroidismo Primario/etiología , Enfermedades de las Paratiroides/diagnóstico , Glándulas Paratiroides/patología , Neoplasias de las Paratiroides/diagnóstico , Adenoma/complicaciones , Adenoma/cirugía , Anciano , Carcinoma/complicaciones , Carcinoma/cirugía , Femenino , Fracturas Espontáneas/etiología , Humanos , Hiperplasia , Masculino , Persona de Mediana Edad , Enfermedades de las Paratiroides/complicaciones , Enfermedades de las Paratiroides/cirugía , Neoplasias de las Paratiroides/complicaciones , Neoplasias de las Paratiroides/cirugía , Paratiroidectomía , Reoperación , Tiroidectomía , Adulto Joven
13.
J Craniofac Surg ; 27(8): 2084-2087, 2016 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-28005758

RESUMEN

This article describes the occurrence of diffuse large B-cell lymphoma in a 39-year-old human immunodeficiency virus-positive patient. The patient sought medical care complaining of increased volume in the right mandibular angle and imaging tests showed an extensive radiolucency with undefined boundaries compromising the mandibular border. After the incisional biopsy, the patient had a pathological fracture in the region, which was properly treated in a second surgical procedure using a 2.4-mm reconstruction plate. Immunohistochemical analysis revealed positive marking for CD3, CD79a, Ki67, and Epstein-Barr virus-encoded RNA. The treatment consisted of concurrent antiretroviral therapy with chemotherapy with rituximab combined with cyclophosphamide, doxorubicin, vincristine, and prednisone. Examinations of images (2 years postoperatively) revealed complete bone repair and absence of injury recurrence. This work is important because it describes an unusual location of diffuse large B-cell lymphoma and shows the importance of diagnosis and treatment of the injury at an early stage in order to promote the prognosis and survival of patients.


Asunto(s)
Fijación Interna de Fracturas/métodos , Fracturas Espontáneas/etiología , Infecciones por VIH/complicaciones , Seropositividad para VIH/complicaciones , VIH , Linfoma de Células B Grandes Difuso/complicaciones , Fracturas Mandibulares/etiología , Adulto , Biopsia , Placas Óseas , Tornillos Óseos , Femenino , Fracturas Espontáneas/diagnóstico , Fracturas Espontáneas/cirugía , Humanos , Linfoma de Células B Grandes Difuso/diagnóstico , Fracturas Mandibulares/diagnóstico , Fracturas Mandibulares/cirugía , Radiografía Panorámica
14.
Gac Med Mex ; 152(Suppl 2): 22-31, 2016 Oct.
Artículo en Español | MEDLINE | ID: mdl-27792713

RESUMEN

OBJECTIVE: To estimate the evaluation and intervention thresholds using FRAX® in Mexican population. METHODS: Probabilities for a mayor fracture using the Mexican FRAX® version to estimate the evaluation and intervention thresholds using clinical scenarios were obtained in both sexes 40 years and over. Projections for 2020 were done to estimate the number of patients at the intervention level taking the osteoporosis prevalence in Mexicans aged 50 years and over. RESULTS: The cutoffs for the intervention thresholds were 2.6%-20.0%. Individuals with thresholds above these probabilities are amenable for intervention. The assessment thresholds range from 1.2-3.2% to 12.5-24.4% for 40 to 90 years. According to projections of our population, approximately three million people are susceptible to intervention by 2020. CONCLUSION: The use of FRAX® thresholds of intervention and evaluation developed in this study will be useful in the primary care level for case detection at high risk of fragility fracture.


Asunto(s)
Fracturas Espontáneas/diagnóstico por imagen , Osteoporosis/diagnóstico por imagen , Absorciometría de Fotón , Adulto , Factores de Edad , Anciano , Anciano de 80 o más Años , Algoritmos , Densidad Ósea , Femenino , Fracturas Espontáneas/epidemiología , Fracturas Espontáneas/etiología , Humanos , Masculino , México/epidemiología , Persona de Mediana Edad , Osteoporosis/complicaciones , Valor Predictivo de las Pruebas , Prevalencia , Probabilidad , Valores de Referencia , Medición de Riesgo , Factores de Riesgo , Factores Sexuales
15.
Rev. ADM ; 73(4): 197-200, jul.-ago. 2016. ilus
Artículo en Español | LILACS | ID: biblio-835294

RESUMEN

Las fracturas patológicas mandibulares son poco comunes, representanel 1 a 2% de todas las fracturas. Pueden ser defi nidas como fracturasque ocurren en regiones donde el hueso ha sido debilitado bajo un procesopatológico. Los factores de causa más comunes incluyen procesosquirúrgicos tales como extracciones de terceros molares, colocación deimplantes, osteonecrosis relacionada con bifosfonatos, osteorradionecrosisde la mandíbula, osteomielitis, infecciones, tumores o lesionesquísticas. La osteomielitis es una condición infl amatoria del hueso; estapatología es uno de los factores que puede determinar el debilitamientodel hueso mandibular y causar una subsecuente fractura patológica. Laosteomielitis mandibular se puede desarrollar si una infección primaria noes manejada adecuadamente. El tratamiento de las fracturas patológicaspuede representar un reto para el profesional de la salud y difi ere segúnla etiología de la misma. Se presenta un caso de una paciente de 54 añosde edad, con una fractura mandibular patológica causada por osteomielitis,la cual fue tratada con antibioticoterapia e intervención quirúrgica.


Pathological mandibular fractures are rare, accounting for between1 and 2% of all fractures. They can be defi ned as fractures thatoccur in regions where the bone has become weakened as a result of a pathological process. Common causal factors include surgicalprocedures such as third molar removal, implant placement, bisphosphonate-related osteonecrosis, osteoradionecrosis of the jaw,osteomyelitis, infections, tumors, and cystic lesions. Osteomyelitisis an infl ammatory condition of the bone; this pathology is one ofthe factors that may prompt weakening of the mandibular boneand cause subsequent pathological fracture. Osteomyelitis of themandible may develop if a primary infection is not properly treated.Treatment of pathological mandibular fractures can be challengingand varies according to their etiology. This article looks at the caseof a 54-year-old woman with a pathological mandibular fracture caused by osteomyelitis, which was treated by means of antibioticotherapy and surgical intervention.


Asunto(s)
Humanos , Femenino , Persona de Mediana Edad , Fracturas Espontáneas/etiología , Fracturas Mandibulares/etiología , Fracturas Mandibulares/terapia , Osteomielitis/complicaciones , Antibacterianos/uso terapéutico , Fracturas Espontáneas/cirugía , Fracturas Mandibulares/cirugía , Procedimientos Quirúrgicos Orales/métodos , Técnicas de Fijación de Maxilares/métodos
16.
Acta ortop. mex ; 30(4): 176-180, jul.-ago. 2016. tab
Artículo en Español | LILACS | ID: biblio-837782

RESUMEN

Resumen: Objetivo: Reportar la incidencia de fracturas en terreno patológico secundarias a metástasis que se presentaron en un hospital de referencia nacional en un período de cinco años. Métodos: Se registraron los ingresos totales a nuestro centro, así como los pacientes que satisficieran la condición de presentar una fractura de fémur proximal en terreno patológico. Con base en información oficial, se calculó el tamaño de población derechohabiente potencial de acuerdo al área de influencia. Con base en los datos se hizo el cálculo de la incidencia anual y de la densidad de incidencia. Resultados: Se identificaron 98 fracturas en 95 individuos. El cálculo de la densidad de incidencia fue de 0.70/100,000 personas durante el período de observación. Se incluyeron 54 sujetos femeninos y 41 masculinos con un promedio de edad de 65.3 años, aunque el rango fue muy variable (de 18 a 90 años). La mayor parte de las personas presentó metástasis por tumores sólidos. De los casos, 29% fue tratado de manera conservadora y el resto requirió tratamiento quirúrgico que incluyó desde osteosíntesis hasta artroplastía protésica. El promedio de estancia hospitalaria fue ligeramente mayor a una semana. Conclusiones: La incidencia reportada es relativamente baja. Encontramos una gran variedad de orígenes y localizaciones anatómicas. No se puede, al momento, generalizar tratamientos o predecir supervivencia.


Abstract: Objective: To report the incidence of pathological fractures secondary to metastasis at a national referral hospital during a 5-year period. Methods: Total admissions to our center were recorded, together with the patients who met the requirement of having a proximal femur fracture in a pathological area. The potential number of beneficiaries was estimated based on official figures and the hospital's area of influence. The annual incidence rate and the incidence density were calculated using the latter data. Results: 98 fractures were identified in 95 patients. The calculated incidence density was 0.70/100,000 population during the observation period. Fifty-four female patients and 41 male patients were included. Mean age was 65.3 years, with a very wide age range (18-90 years). Most patients had metastasis of solid tumors. Twenty-nine percent of patients were treated conservatively and the rest of them required surgery that included from osteosynthesis to prosthetic arthroplasty. The mean length of stay was over one week. Conclusions: The reported incidence of this type of fractures is relatively low. We found a wide variety of anatomical origins and locations. As of now, it is not possible to generalize the treatment or predict the survival.


Asunto(s)
Humanos , Masculino , Femenino , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Adulto Joven , Neoplasias Óseas/complicaciones , Fracturas del Fémur/cirugía , Fracturas del Fémur/etiología , Fracturas del Fémur/epidemiología , Fracturas Espontáneas/etiología , Fracturas Espontáneas/epidemiología , Derivación y Consulta , Fémur , Fijación Interna de Fracturas , Persona de Mediana Edad
17.
J Am Acad Orthop Surg ; 24(9): 625-33, 2016 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-27454024

RESUMEN

Enchondroma is the most common primary bone tumor of the hand. This benign, cartilaginous tumor often presents as a pathologic fracture. When hand enchondroma is suspected, less common conditions, such as multiple enchondromatosis syndromes and benign and malignant lesions, should be ruled out. Surgical management with curettage is the standard of care for symptomatic lesions. However, controversy surrounds the timing of surgery for pathologic fractures and the use of surgical adjuncts and postcurettage void management. Microscopically distinguishing hand enchondroma from low-grade hand chondrosarcoma is a diagnostic challenge for pathologists, but the primary surgical treatment for both conditions is curettage because the latter has a low metastatic potential. Postoperative complications are typically joint stiffness and soft-tissue[FIGURE DASH]related deformities, whereas recurrence and malignant degeneration of solitary lesions are much less common. Most patients return to full function after surgery.


Asunto(s)
Neoplasias Óseas/diagnóstico , Neoplasias Óseas/cirugía , Condroma/diagnóstico , Condroma/cirugía , Neoplasias Óseas/complicaciones , Condroma/complicaciones , Condrosarcoma/diagnóstico , Legrado/métodos , Diagnóstico Diferencial , Encondromatosis/diagnóstico , Fracturas Espontáneas/etiología , Mano/patología , Humanos , Complicaciones Posoperatorias/etiología
18.
Acta Ortop Mex ; 30(4): 176-180, 2016.
Artículo en Español | MEDLINE | ID: mdl-28267906

RESUMEN

OBJECTIVE: To report the incidence of pathological fractures secondary to metastasis at a national referral hospital during a 5-year period. METHODS: Total admissions to our center were recorded, together with the patients who met the requirement of having a proximal femur fracture in a pathological area. The potential number of beneficiaries was estimated based on official figures and the hospitals area of influence. The annual incidence rate and the incidence density were calculated using the latter data. RESULTS: 98 fractures were identified in 95 patients. The calculated incidence density was 0.70/100,000 population during the observation period. Fifty-four female patients and 41 male patients were included. Mean age was 65.3 years, with a very wide age range (18-90 years). Most patients had metastasis of solid tumors. Twenty-nine percent of patients were treated conservatively and the rest of them required surgery that included from osteosynthesis to prosthetic arthroplasty. The mean length of stay was over one week. CONCLUSIONS: The reported incidence of this type of fractures is relatively low. We found a wide variety of anatomical origins and locations. As of now, it is not possible to generalize the treatment or predict the survival.


Reportar la incidencia de fracturas en terreno patológico secundarias a metástasis que se presentaron en un hospital de referencia nacional en un período de cinco años.


Asunto(s)
Neoplasias Óseas , Fracturas del Fémur , Fracturas Espontáneas , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Neoplasias Óseas/complicaciones , Femenino , Fracturas del Fémur/epidemiología , Fracturas del Fémur/etiología , Fracturas del Fémur/cirugía , Fémur , Fijación Interna de Fracturas , Fracturas Espontáneas/epidemiología , Fracturas Espontáneas/etiología , Humanos , Masculino , Persona de Mediana Edad , Derivación y Consulta , Adulto Joven
19.
J Pediatr Orthop ; 36(4): 392-9, 2016 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-25985373

RESUMEN

BACKGROUND: Several treatment modalities have been described for the treatment of unicameral bone cysts (UBC). The aim of this study was to examine the outcome of various treatment modalities of UBC in a specific anatomic location, the humerus. METHODS: This study is a retrospective case-only study of patients with humeral UBC with minimum follow-up of 1 year. Medical records and radiographs were assessed and UBC healing status was determined based on most recent follow-up radiographs and divided into 3 groups (healed, partially healed, and not healed). Descriptive statistics were utilized to summarize study outcome. RESULTS: Sixty-eight patients (54 boys and 14 girls) with humeral UBC comprised the study population. Sixty-four cases (94.1%) presented with a pathologic fracture. Fifty-one cases were in the proximal metaphysis and 17 were in the diaphysis. Mean age at diagnosis was 9.2±3.7 years, and mean follow-up was 4.0±2.6 years. Twenty-five patients were treated with observation, 38 by injection (27 with steroids and 11 with bone marrow), and 5 by open surgery. Patients who underwent open surgery had relatively larger cyst length, width, and cyst index, and all healed or partially healed at last follow-up. UBC persistence was observed in 29% of diaphyseal and 27.5% of metaphyseal cysts. Of the 19 patients with persistence, 8 were treated with observation, 9 with steroid injection, and 2 with bone marrow injection. Inner wall disruption before injection was performed in 17 patients (24% did not heal), whereas 21 patients did not have inner wall disruption (33% did not heal). Twenty patients received >1 injection. Eleven patients complained of pain at the last visit (8 had a persistent cyst, 2 were partially healed, and 1 had a healed UBC). CONCLUSIONS: Complete healing of humeral UBC is challenging to achieve irrespective of treatment modality. UBCs treated with open surgery tended to heal better. Unhealed cysts were more likely to be associated with pain. LEVEL OF EVIDENCE: Level III-a retrospective comparative study.


Asunto(s)
Quistes Óseos/terapia , Trasplante de Médula Ósea/métodos , Fracturas Espontáneas/terapia , Glucocorticoides/uso terapéutico , Húmero/cirugía , Metilprednisolona/uso terapéutico , Espera Vigilante , Quistes Óseos/complicaciones , Quistes Óseos/diagnóstico por imagen , Niño , Preescolar , Tratamiento Conservador , Femenino , Fracturas Espontáneas/diagnóstico por imagen , Fracturas Espontáneas/etiología , Humanos , Húmero/diagnóstico por imagen , Inyecciones , Masculino , Radiografía , Estudios Retrospectivos , Resultado del Tratamiento
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