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RESUMEN Fundamento: las enfermedades esqueléticas de causa genética son un grupo heterogéneo de afecciones del crecimiento y desarrollo del hueso y el cartílago que incluye más de 350 entidades. El incremento de su conocimiento ha conllevado a que su nomenclatura haya sido revisada por expertos en varias ocasiones. Objetivo: analizar aspectos de la clasificación actual de las enfermedades esqueléticas de causa genética, teniendo en cuenta el diagnóstico de los pacientes atendidos en el Servicio de referencia nacional de Genética Clínica. Métodos: se realizó un estudio descriptivo, retrospectivo, por medio de revisión documental de los datos inscritos entre septiembre de 1984 y diciembre del 2019 en el Servicio de Genética Clínica del Hospital Pediátrico de Centro Habana. Fueron incluidos 225 casos con evidencias clínicas de enfermedades esqueléticas. Se aplicó el método clínico estandarizado en la red de genética. El diagnóstico se realizó utilizando el método comparativo. Las enfermedades identificadas se contrastaron con las incluidas en la clasificación descrita en el 2010. Resultados: se identificó en 190 pacientes enfermedades esqueléticas específicas, las más frecuentes halladas fueron: el síndrome Ehlers-Danlos (n=19; 10 %), la acondroplasia (n=18; 9,4 %) y el síndrome de Marfán (n=17; 8,9 %). De los 40 grupos incluidos en la clasificación analizada, el de mayor número fue el que se correspondía con el sobrecrecimiento. Se halló un paciente con síndrome Wildervanck y un caso con hipoplasia glútea con sinbraquidactilia ipsilateral de miembro inferior, estas enfermedades no están listadas en la clasificación actual. Conclusión: la clasificación actual de las enfermedades óseas genéticas es producto del conocimiento humano y deberá estar sujeta a cambios.
ABSTRACT Background: skeletal diseases of genetic cause are a heterogeneous group of disorders of the growth, development of bone and cartilage that includes more than 350 entities. The increase in its knowledge has meant that experts have reviewed its nomenclature on several occasions. Objective: to analyze aspects of the current classification the skeletal diseases of genetic cause, taking into account the diagnosis of patients treated in a national reference service of Clinical Genetics. Methods: a descriptive, retrospective study, was carried out by means of a documentary review of the data registered between September 1984 and December 2019 in the Clinical Genetics Service of the Centro Habana Pediatric Hospital. 225 cases with clinical evidence of skeletal diseases were included. The standardized clinical method was applied in the genetics network. The diagnosis was made using the comparative method. The diseases identified were contrasted with those included in the classification described in 2010. Results: specific skeletal diseases were identified in 190 patients, the most frequent found were Ehlers-Danlos syndrome (n = 19; 10 %), achondroplasia (n = 18; 9.4 %) and Marfan syndrome (n = 17; 8.9 %). Of the 40 groups included in the classification analyzed, the one with the highest number was due to overgrowth. We found a patient with Wildervanck syndrome and a case with gluteal hypoplasia with ipsilateral lower limb synbrachydactyly, these diseases are not listed in the current classification. Conclusion: the current classification of genetic bone diseases is the product of human knowledge and should be subject to change.
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Objective To explore the feasibility,safety and efficacy of customized porous tantalum acetabular patch made by three-dimensional (3D) printing technique in treating adult developmental dysplasia of the hip (DDH).Methods Eight adult patients with Crowe Ⅰ type DDH (2 men and 6 women,with a mean age of 43.75±7.81 years,range 33-58 years) who were treated with 3D printed customized porous tantalum acetabular patch hip reconstruction from January 2017 to September 2017 were included.The 3D printing technique was used for reconstructing and designing the optimal acetabular patch for the personalized hip joint of each patient.The acetabular patch was subjected to porous processing and finite element analysis until the biomechanical requirements were met.The 3D printing of porous tantalum acetabular patch and post-processing was subsequently performed.The acetabular patch was implanted through the anterior approach of the hip joint.The operative duration,intraoperative blood loss and complications were recorded.All the included patients were followed up at 1.5,3 and 6 months postoperatively.Pain was assessed using the visual analog scale (VAS),and the hip joint function was evaluated using the Harris score and gait analysis.The patients underwent anterior-posterior radiography and 3D computed tomography of the hip joint aiming to observe the position of the acetabular patch and osteoarthritis progression.Results The mean operative duration was 1.13±0.23 h,and the mean blood loss was 114.17±41.22 ml.All patients were followed up for 6 to 12 months,with an average of 8.2 months.The mean lateral central-edge angle and anterior central-edge angle ranged from 9.83°±5.34° preoperatively to 32.67°±2.53° postoperatively and from 3.83°± 2.79° preoperatively to 21.67°± 1.87° postoperatively,respectively.The rate of acetabular coverage increased from 57.33％±7.97％ preoperatively to 87.33％±4.56％ postoperatively.The VAS and Harris scores ranged from 2.92± 0.79 preoperatively to 0.83±0.72 postoperatively and from 69.67±4.62 preoperatively to 84.25±4.14 postoperatively with statistically significant difference,respectively.The results of gait analysis showed that the step speed,stride,the range of motion of hip and knee were better than that preoperatively.The images suggested a close contact between the tantalum acetabular patch and the iliac bone without loosening and progress of osteoarthritis in hip joint.Conclusion 3D printed customized porous tantalum acetabular patch could reconstruct the defect of acetabular,increase the coverage,and delay the progress of osteoarthritis of the hip joint.This method could reduce the difficulty of hip reconstruction,and the patients could obtain better joint function at the early stage.
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<p><b>OBJECTIVE</b>To evaluate clinical outcomes of acetabular cup position on high hip and anatomical position in total hip arthroplasty for Crowe III developmental dysplasia of hip joint.</p><p><b>METHODS</b>Forty-six patients(58 hips) treated with high hip center THA from January 2010 to December 2015, including 6 males (8 hips) and 40 females(50 hips) aged from 40 to 70 years old with an average of(54.3±7.6) years old. While 20 patients(28 hips) treated with anatomical position in THA from January 2004 and December 2009 were analyzed as control, including 4 males (5 hips) and 16 females (23 hips), aged from 42 to 68 years old with an average of (53.0±7.1) years old. Operative time, blood loss, Harris score (HHS), gait analysis, Trendelanburg signal, imaging examinations and prosthesis survivorship were compared between two groups.</p><p><b>RESULTS</b>Operative time and blood loss in high hip group(75.1±13.3) min and (108.4±47.1) ml respectively were lower than that of in anatomical position group(107.7±17.1) min and(201.0±58.6) ml respectively. There was no statistical difference in HSS score at 2 years after operation in high hip group(92.3±3.7) scores and anatomical position group(91.4±3.6) scores. No obvious meaning in lower limb differences in high hip group (3.8±2.1) mm and anatomical position group (3.5±1.6) mm. The vertical distance between center of rotation to teardrop in high hip group(31.6±7.8) mm was higher than that of anatomical group(19.3±7.4) mm;while there was no significant differences in horizontal distance between high hip group (30.1±7.7) mm and anatomical group(29.4±7.5) mm. There was no statistical significance in prosthesis survivorship. The gait was good without lameness and positive features of Trendelanburg signal caused by insufficient of abductor.</p><p><b>CONCLUSIONS</b>For Crowe III DDH, a high hip center cementless cup without bone graft is a liable method with good function and high rate of prosthesis survivorship. And satisfying short-term clinical and radiographic results could be achieved by this method.</p>
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A case of congenital nephrotic syndrome (CNS) combined with skull dysplasia was confirmed based on clinical findings, laboratory examination and skull CT scan. Hereditary features, clinical manifestations, treatment and prognosis of CNS were reported in this paper after literatm'e review.