RESUMEN
Unreported "de novo" rearrangement of chromosomes 4 and 7: Unbalanced rearrangements of the chromosomes are extremely rare and associated with an abnormal phenotype and usually result in an abortion in early pregnancy. The current literature includes reports on the conditions related with rearrangements of chromosome 4 and 7. Herein, we describe a rearrangement between these two chromosomes, which is the first presentation ofa specific translocation t(4;7)(q31;p15) and its consequent phenotype following de novo rearrangement of the chromosomes. It brought into light phenotypic similarities with other aberrations following breakage from adjacent band loci. We hope these features will help further genetic investigations on these chromosome regions.
Asunto(s)
Anomalías Múltiples/genética , Cromosomas Humanos Par 4 , Cromosomas Humanos Par 7 , Translocación Genética , Anomalías Craneofaciales/genética , Femenino , Humanos , Recién Nacido , Deformidades Congénitas de las Extremidades/genética , TurquíaRESUMEN
EEM syndrome is a rare condition characterised by ectodermal dysplasia, ectrodactyly and macular dystrophy. Additional abnormalities such as alopecia, cataract, absent eyebrows, and oligodontia may occur. We report two brothers and a sister born to consanguineous parents with EEM syndrome. EEM syndrome differs from other ectrodactly syndromes by the characteristic findings in the ocular fundus showing extensive retinochoroidal atrophy with diffuse retinal pigmentation and mild arteriolar attenuation at the posterior pole. In contrast to other ectrodactyly syndromes autosomal recessive inheritance is most likely.
Asunto(s)
Displasia Ectodérmica/complicaciones , Displasia Ectodérmica/genética , Dedos/anomalías , Degeneración Macular/complicaciones , Degeneración Macular/genética , Sindactilia/complicaciones , Sindactilia/genética , Adulto , Femenino , Dedos/diagnóstico por imagen , Humanos , Degeneración Macular/patología , Disco Óptico/patología , Linaje , Radiografía , SíndromeRESUMEN
OBJECTIVE: In the present study, the effects of magnesium sulfate (MgSO4) on tissue lactate and malondialdehyde (MDA) levels after spinal cord trauma (SCT) in rabbits were studied. SUBJECTS: Thirty New Zeland rabbits. Interventions. The rabbits were divided equally into three groups: group I was the sham- operated group, group II suffered from SCT but received no treatment, group III was given a dose of 100 mg/kg of magnesium sulfate intravenously at 5th minute after SCT. MEASUREMENTS. The lactate and MDA levels were measured in contused spinal cord tissue at 60 minutes after SCT. There was a significant increase of lactate and MDA levels in group II (p < 0.05) when compared with groups I and III, and a significant increase in the level of MDA in group III compared with group I, and also a significant decrease compared with group II, which was the trauma group without treatment (p < 0.05). CONCLUSION: The findings of this study showed that magnesium sulfate can attenuate the increase of tissue MDA and supply a normalization of lactate levels following SCT which may be related to the neuroprotective effects of (MgSO4).
Asunto(s)
Ácido Láctico/metabolismo , Sulfato de Magnesio/metabolismo , Malondialdehído/metabolismo , Traumatismos de la Médula Espinal/metabolismo , Médula Espinal , Animales , Presión Sanguínea , Dióxido de Carbono/sangre , Frecuencia Cardíaca , Oxígeno/sangre , Conejos , Distribución Aleatoria , Médula Espinal/metabolismo , Médula Espinal/patología , Traumatismos de la Médula Espinal/patologíaRESUMEN
Open fractures in children have a high level of morbidity and require early treatment. This case describes the successful treatment of a child who sustained an open tibial fracture with soft tissue loss. The fracture was stabilized with a monolateral external fixator devised in our clinic, and the soft tissue loss was covered with a distally based sural artery flap. The flap is simple, can be done quickly, and a surgeon does not need microsurgical or specialty training to perform the operation. This combined use of external fixation and distally based sural artery flap is a straightforward technique in distal tibial open fractures of children with soft tissue loss.
Asunto(s)
Fijadores Externos , Fijación de Fractura/instrumentación , Fracturas Abiertas/cirugía , Colgajos Quirúrgicos , Fracturas de la Tibia/cirugía , Heridas por Arma de Fuego/cirugía , Adolescente , Terapia Combinada , Femenino , Estudios de Seguimiento , Fijación de Fractura/métodos , Curación de Fractura/fisiología , Fracturas Abiertas/diagnóstico , Humanos , Músculo Esquelético/trasplante , Recuperación de la Función , Fracturas de la Tibia/diagnóstico , Resultado del Tratamiento , Cicatrización de Heridas/fisiología , Heridas por Arma de Fuego/diagnósticoRESUMEN
BACKGROUND: The aim of this study was to investigate whether enhanced stimulation voltage could be a predictor of the extent of injury in acute compressive peripheral nerve trauma. METHODS: The femoral nerves were exposed on both sides, in 11 anesthetized rabbits. Supramaximal stimulation voltage was used to produce a maximal-amplitude compound muscle action potential (CMAP) from the quadriceps femoris muscle. Afterward, the left femoral nerve was clipped for 1 minute, and the right femoral nerve for 5 minutes to produce an acute compressive injury. Immediately after removal of the clip, the proximal and distal sides of the clippage site were stimulated by gradually increased voltage until CMAPs were obtained. The same procedure was repeated at the 30th and 60th minutes. The ratio of the CMAP amplitudes obtained from proximal and distal stimulation was measured to establish a classification. RESULTS: The stimulation voltages and amplitudes of the CMAPs before clippage were similar with the after-clippage values obtained from distal stimulation (p > 0.05), but the after-clippage values obtained from proximal stimulation were different in both sides (p < 0.05). Doubled stimulation voltage was enough to obtain CMAPs on the left side, but eightfold the initial level was required on the right side. The amplitude ratios recovered to preinjury levels in all of the subjects on the left side, but only two showed recovery on the right side (p < 0.001). Histopathologically, there was axonal compression without discontinuity on the left side, whereas the fibers were dispersed on the right side. CONCLUSION: Stimulation voltage was found to discriminate the severity of the lesion in experimental peripheral nerve injury. Proximal to distal amplitude ratio seems to be a prognostic factor when the injury is less severe.
Asunto(s)
Potenciales de Acción , Nervio Femoral/lesiones , Músculo Esquelético/fisiología , Animales , Estimulación Eléctrica , Nervio Femoral/patología , Conejos , Índices de Gravedad del TraumaRESUMEN
Our aim was to determine the clinical effectiveness and safety of Ilizarov external fixation for the acute treatment of severely comminuted extra-articular and intercondylar fractures of the distal femur. A total of 14 consecutive patients with complex fractures was treated. There were three type-A3, two type-C2 and nine type-C3 fractures according to the AO/ASIF system. The mean follow-up was 14 months. Most fractures (13) united primarily at a mean of 16 weeks. One patient with a type-IIIA open fracture had infection and nonunion. The mean range of flexion of the knee at the final follow-up was 105 degrees (35 to 130). We conclude that, in the treatment of comminuted fractures of the distal femur, the Ilizarov fixator is safe and effective in providing stability and allowing early rehabilitation.
Asunto(s)
Fracturas del Fémur/cirugía , Fracturas Cerradas/cirugía , Fracturas Conminutas/cirugía , Fracturas Abiertas/cirugía , Técnica de Ilizarov , Traumatismos de la Rodilla/cirugía , Adolescente , Adulto , Anciano , Hilos Ortopédicos , Femenino , Estudios de Seguimiento , Fijación Interna de Fracturas , Curación de Fractura/fisiología , Humanos , Masculino , Persona de Mediana Edad , Resultado del TratamientoRESUMEN
Opposition, one of the most important functions of the hand, is lost or impaired after median nerve injury. Complete recovery does not always occur after treatment, and various techniques of opponensplasty are used for restoring opposition. This study was performed in order to develop an alternative method for selective restoration of thenar muscle function. Ten arms from 5 cadavers were used. The median nerve with its thenar motor branch (Tb) and the anterior interosseous nerve with its motor branch to pronator quadratus (PQb) were prepared in the distal forearm. The mean widths and the number of myelinated fibres of these nerves were: PQb 1.3+/-0.10 mm, Tb 1.4+/-0.12 mm and PQb 912+/-88 mm, Tb 1020+/-93 mm. The minimum necessary distance from the distal flexor crease of the wrist for neurotisation of the Tb by the PQb was 60+/-5.41 mm. It was concluded that PQb-Tb neurotisation would be possible anatomically. The advantages are that motor function is reestablished with a motor nerve, the diameters and the number of myelinated fibres of both nerves are similar, the loss of function after denervation of the pronator quadratus is slight and opponensplasty still remains as a final option.
Asunto(s)
Brazo/inervación , Nervio Mediano/lesiones , Nervio Mediano/cirugía , Transferencia de Nervios/métodos , Cadáver , Disección , Estudios de Factibilidad , Mano/fisiopatología , Traumatismos de la Mano/fisiopatología , HumanosRESUMEN
OBJECT: In cases of irreparable injuries to the radial nerve or in cases in which nerves are repaired with little anticipation of restoration of function, tendon transfers are widely used. In this study, the authors searched for a more natural alternative for selectively restoring function, with the aid of a motor nerve transfer. METHODS: Ten arms from five cadavers were used in the study. The posterior interosseous nerve and the median nerve together with their motor branches were exposed in the proximal forearm. The possibility of posterior interosseous nerve neurotization via the median nerve through its motor branches leading to the pronator teres, flexor pollicis longus, flexor digitorum profundus, and pronator quadratus muscles was investigated. The lengths of the nerves from points of divergence and their widths were measured using calipers, and the means with standard deviations of all nerves were calculated. Motor branches to the pronator teres, flexor pollicis longus, and pronator quadratus muscles were found to be suitable for neurotization of the posterior interosseous nerve at different levels and in various combinations. The motor nerve extending to the flexor digitorum profundus muscle was too short to use for transfer. CONCLUSIONS: These results offer a suitable alternative to tendon transfer for restoring finger and wrist extension in cases of irreversible radial palsy. The second step would be clinical verification in appropriate cases.
Asunto(s)
Articulaciones de los Dedos/inervación , Nervio Mediano/trasplante , Neuronas Motoras/trasplante , Neuropatía Radial/cirugía , Articulación de la Muñeca/inervación , Cadáver , Articulaciones de los Dedos/fisiología , Humanos , Nervio Mediano/citología , Recuperación de la Función , Tendones/trasplante , Articulación de la Muñeca/fisiologíaRESUMEN
BACKGROUND: The purpose of this study was to determine the safety of early weight-bearing after statically locked reamed nailing of comminuted fractures of the femoral diaphysis, and to assess the rate of implant failure and fracture healing. METHODS: Thirty consecutive patients with comminuted diaphyseal femur fractures (Winquist type II, III, and IV) were treated with statically locked reamed intramedullary nailing. Six patients were lost to follow-up, and the remaining 24 patients were followed at least 1 year. Early weight-bearing was allowed and encouraged in the first 2 weeks after the operation. The nail diameters were 13 mm in 16 patients, 12 mm in 6 patients, and 14 mm in 2 patients. RESULTS: Most of the patients could start weight-bearing between the first 2 and 4 weeks postoperatively. None of the patients, except one, were using any walking aids at the second month postoperatively. All the fractures healed without any significant complications. Nail bending or breakage did not occur in any patients, but there was slight bending in one distal interlocking screw and one proximal interlocking screw. The fractures of the patients with bent screws healed uneventfully. CONCLUSION: This study showed that early weight-bearing after reamed static interlocking nailing of Winquist type II, III, and IV femoral fractures is a safe and effective method, and the risk of implant failure does not preclude the procedure.
Asunto(s)
Ambulación Precoz/efectos adversos , Ambulación Precoz/métodos , Fracturas del Fémur/rehabilitación , Fracturas del Fémur/cirugía , Fijación Intramedular de Fracturas , Fracturas Conminutas/rehabilitación , Fracturas Conminutas/cirugía , Seguridad , Soporte de Peso , Adolescente , Adulto , Anciano , Tornillos Óseos , Femenino , Fracturas del Fémur/clasificación , Fracturas del Fémur/diagnóstico por imagen , Estudios de Seguimiento , Fijación Intramedular de Fracturas/efectos adversos , Fijación Intramedular de Fracturas/instrumentación , Fijación Intramedular de Fracturas/métodos , Curación de Fractura , Fracturas Conminutas/clasificación , Fracturas Conminutas/diagnóstico por imagen , Humanos , Masculino , Persona de Mediana Edad , Falla de Prótesis , Radiografía , Rango del Movimiento Articular , Factores de Riesgo , Rotación , Factores de Tiempo , Resultado del TratamientoRESUMEN
BACKGROUND: Proximal ulnar-nerve lesions have an unfavorable prognosis. The goal of the present study was to evaluate the feasibility of selective restoration of motor function of the ulnar nerve by the transfer of the anterior interosseous nerve or one of its branches to the motor branch of the ulnar nerve. METHODS: Ten cadaveric arms were used in the present study. The ulnar nerve and its motor and sensory branches as well as the anterior interosseous nerve and its branches were dissected. The widths of the motor branch of the ulnar nerve and the anterior interosseous nerve and its motor branches as well as the relevant distances from the points of divergence were measured. The axons were counted, and the distances from the end of the main anterior interosseous nerve, its motor branches, and the motor branch of the ulnar nerve to the level of the dorsal sensory branch of the ulnar nerve were measured. RESULTS: Our results indicate that the length, width, and number of axons of the branch of the anterior interosseous nerve to the pronator quadratus make it suitable for transfer to the motor branch of the ulnar nerve. The use of the main anterior interosseous nerve or its motor branches to the flexor pollicis longus and the flexor digitorum profundus is less feasible because of the need to graft a long segment and the longer distance from the level of transfer to the motor end points. CONCLUSIONS: The findings of the present study confirm the feasibility of motor-nerve transfer for reconstruction after an injury of the ulnar nerve. Nerve-grafting would be needed for injuries distal to the level of the dorsal sensory branch of the ulnar nerve.
Asunto(s)
Transferencia de Nervios , Nervio Cubital/cirugía , Brazo/inervación , Cadáver , Estudios de Factibilidad , Mano/inervación , Humanos , Nervio Cubital/anatomía & histología , Nervio Cubital/fisiologíaRESUMEN
BACKGROUND: The distally based superficial sural artery flap, first described as a distally based neuroskin flap by Masquelet et al., is a skin island flap supplied by the vascular axis of the sural nerve. In the difficult area of defects in the lower leg and the ankle and heel region, it has a wide variety of indications, even in the vascularly compromised patients. It has the largest arc of rotation of all flaps that have been described in this region. The most important advantage is that it does not compromise a major artery. It is simple to dissect and has a low donor morbidity. METHODS: We reported our experience with this new flap in 15 cases and also described a new indication for the patients with neglected ruptures of the Achilles tendon. RESULTS: In 13 patients, the flap was successfully transferred. In two cases, partial necrosis of the flap ensued, which healed with secondary intention. CONCLUSION: This flap deserves a high degree of interest in the reconstructive armamentarium of the trauma surgeon.
Asunto(s)
Traumatismos de la Pierna/cirugía , Colgajos Quirúrgicos , Tendón Calcáneo/lesiones , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Rotura , Traumatismos de los Tejidos Blandos/cirugía , Nervio SuralRESUMEN
In evaluation of genu varum-genu valgum, tibiofemoral (TF) angle and intercondylar (IC) or intermalleolar (IM) distance are commonly measured. In this study, we determined mean values and normal limits for TF angle and IC/IM distance in 590 normal Turkish children (287 girls and 303 boys) aged from 3 to 17 years using clinical methods. We noted a significantly higher degree of valgus angle than that in previous reports. The maximal mean valgus angle was 9.6 degrees at 7 years for boys and 9.8 degrees at 6 years for girls. These differences were considered racial differences between Turkish children and those of other races. Turkish children, aged between 3 and 17 years, exhibited < or =11 degrees physiologic valgus. A measurable varus angle or a valgus higher than 11 degrees during this period should be considered abnormal.
Asunto(s)
Articulación de la Rodilla/anatomía & histología , Adolescente , Niño , Preescolar , Femenino , Fémur/anatomía & histología , Humanos , Masculino , Valores de Referencia , Tibia/anatomía & histología , Turquía , Población BlancaRESUMEN
Osteoid osteoma is a benign bone tumor that rarely localizes in the hand or the carpal bones. We report two cases of osteoid osteoma localized in two different carpal bones. Unremitting wrist pain was a major clinical symptom. Surgical treatment including excision of the nidus was dramatically curative. In young patients, osteoid osteoma should be considered in the differential diagnosis of chronic wrist pain.
Asunto(s)
Neoplasias Óseas/diagnóstico , Huesos del Carpo , Osteoma Osteoide/diagnóstico , Adulto , Biopsia , Neoplasias Óseas/complicaciones , Neoplasias Óseas/fisiopatología , Neoplasias Óseas/cirugía , Enfermedad Crónica , Diagnóstico Diferencial , Femenino , Humanos , Imagen por Resonancia Magnética , Osteoma Osteoide/complicaciones , Osteoma Osteoide/fisiopatología , Osteoma Osteoide/cirugía , Dolor/etiología , Rango del Movimiento Articular , Tomografía Computarizada por Rayos XRESUMEN
The role of preliminary traction before closed reduction in the treatment of developmental dysplasia of the hip has been questioned by many authors lately. However, the studies advocating or opposing the use of this treatment modality include several other parameters besides traction. Thus, it is unclear whether the affection is the result of preliminary traction or concurrent variables such as the "human position." This study aimed to put forward the effect of preliminary traction as a single determinant of avascular necrosis. We had two groups of patients who had developmental dislocation of the hip. The first group consisted of 52 patients treated with preliminary traction before closed reduction and the other group comprised 40 patients treated with closed reduction without preliminary traction. Both groups were similar in age, gender, side, level of dislocation, and method and duration of immobilization. Three patients from the first group developed avascular necrosis, which was not statistically significant. Preliminary traction did not affect the rate of avascular necrosis.
Asunto(s)
Necrosis de la Cabeza Femoral/etiología , Luxación de la Cadera/cirugía , Tracción , Factores de Edad , Interpretación Estadística de Datos , Femenino , Estudios de Seguimiento , Luxación de la Cadera/diagnóstico por imagen , Humanos , Inmovilización , Lactante , Masculino , Cuidados Preoperatorios , Encuestas y Cuestionarios , Factores de Tiempo , Tomografía Computarizada por Rayos X , Tracción/efectos adversosRESUMEN
Ipsilateral elbow and forearm fractures are quite rare in children. We present a Monteggia lesion with ipsilateral supracondylar humerus fracture in a 13-year-old girl. Through early surgical management, a successful result was achieved. We believe that, to minimize any initial or subsequent complications in such fractures, early surgical management should be the first treatment choice.