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1.
Int J Cardiol ; 267: 88-93, 2018 Sep 15.
Artigo em Inglês | MEDLINE | ID: mdl-29871807

RESUMO

BACKGROUND: In patients with Chagas cardiomyopathy (ChCM), sudden cardiac death (SCD) is the leading cause of mortality. Implantable cardioverter-defibrillator (ICD) is a well-established therapy for secondary prevention in patients with structural heart disease, but there are conflicting opinions regarding its efficacy and safety in patients with ChCM. The aim of this meta-analysis was to assess the efficacy of the ICD for secondary prevention in patients with ChCM, comparing mortality as the primary outcome of patients treated with ICD with those treated with amiodarone. METHODS: We systematically searched five databases for studies assessing mortality outcomes in patients with ChCM and sustained ventricular tachycardia (VT) treated with ICD implantation or with amiodarone. The results of studies were pooled using random-effects modeling. RESULTS: There was no randomized clinical trial comparing efficacy of ICD versus medical treatment in patients with ChCM. Six observational studies were included, totalizing 115 patients in amiodarone group and 483 patients in ICD group. The mortality outcome in the ICD population was 9.7 per 100 patient-years of follow-up (95%CI 5.7-13.7) and 9.6 per 100 patient-years in the amiodarone group (95%CI 6.7-12.4) (p = 0.95). Meta-regression did not show any association with LV ejection fraction (p = 0.32), age (p = 0.44), beta-blocker (p = 0.33) or angiotensin-converting enzyme inhibitors (p = 0.096) usage. CONCLUSION: The best available evidence derived from small observational studies suggests that ICD therapy in secondary prevention of sudden death (VT or resuscitated SCD) is not associated with lower rate of all-cause mortality in patients with ChCM. Randomized controlled trials are needed to answer this question.


Assuntos
Cardiomiopatia Chagásica , Morte Súbita Cardíaca/prevenção & controle , Desfibriladores Implantáveis , Cardiomiopatia Chagásica/complicações , Cardiomiopatia Chagásica/tratamento farmacológico , Cardiomiopatia Chagásica/cirurgia , Morte Súbita Cardíaca/etiologia , Humanos , Mortalidade , Prevenção Secundária/métodos
3.
Biomédica (Bogotá) ; 33(4): 631-642, Dec. 2013. graf, tab
Artigo em Espanhol | LILACS | ID: lil-700480

RESUMO

Introducción. En Colombia se ha publicado poco sobre farmacorresistencia del VIH en pacientes que reciben tratamiento antirretroviral. Las guías de VIH de Colombia de 2006, no recomiendan el uso de los estudios de genotipo de resistencia en pacientes nunca expuestos a medicamentos antirretrovirales ni después del primer fracaso terapéutico. Objetivo. Determinar la frecuencia de mutaciones de resistencia y el grado de sensibilidad/resistencia del VIH a los antirretrovirales en pacientes que han recibido tratamiento antirretroviral. Materiales y métodos. Se reclutó una muestra no probabilística de 170 pacientes con infección por VIH que recibían tratamiento antirretroviral, experimentaban fracaso virológico y que tenían estudios de genotipo de resistencia. Se estudió la farmacorresistencia del VIH en dos grupos: estudios de genotipo de resistencia tempranos Vs . tardíos. Resultados. El tipo de resistencia más frecuente en pacientes bajo tratamiento antirretroviral, afectó a los inhibidores no nucleosídicos (76 %). El grupo de estudio tardío tuvo mayor riesgo de resistencia a inhibidores nucleosídicos y a los inhibidores de proteasa, mayor número de mutaciones de resistencia y mayor complejidad de las resistencias, que el grupo de estudio temprano. También, se encontró un alto grado (30 %) de resistencia cruzada a los inhibidores nucleosídicos en el grupo de estudio tardío. Los medicamentos menos afectados fueron tenofovir y darunavir. Conclusiones. Los resultados de este estudio sugieren que practicar estudios de genotipo de resistencia tardíos se asocia con altos niveles de resistencia, lo cual puede restringir el uso de un gran número de antirretrovirales esenciales en esquemas subsiguientes. Es necesario revisar las actuales recomendaciones sobre el uso de dichos exámenes en las guías colombianas de manejo de VIH.


Introduction: Little has been published in Colombia on HIV drug resistance in patients taking antiretroviral treatment (ART). Currently, the Colombian guidelines do not recommend the use of genotypic antiretroviral resistance tests (GART) for treatment-naive patients or for those experiencing a first therapeutic failure. Objective: To determine the frequency of relevant resistance mutations and the degree of susceptibility/ resistance of HIV to antiretroviral drugs (ARVs) in ART-experienced patients. Materials and methods: A non-random sample of 170 ART-experienced HIV patients with virologic failure and who underwent GART was recruited. A study of HIV drug resistance was carried out in two groups of patients: one group that underwent early GART and the other group that received late GART testing. Results: The most frequent type of resistance affected the non-nucleoside class (76%). The late-GART group had higher risk of nucleoside analog and protease inhibitor drug resistance, a higher number of resistance mutations and more complex mutational profiles than the early-GART group. A high cross resistance level (30%) was found in the nucleoside analog class. The least affected medications were tenofovir and darunavir. Conclusions: Our results suggest that performing GART late is associated with levels of ARV resistance that could restrict the use of an important number of essential ARV in subsequent regimens. There is a need to revise the current recommendations to include GART prior to start of treatment and after the first virologic failure.


Assuntos
Adulto , Feminino , Humanos , Masculino , Antirretrovirais/uso terapêutico , Farmacorresistência Viral , Infecções por HIV/tratamento farmacológico , HIV-1 , Antirretrovirais/farmacologia , Colômbia , Estudos Transversais , Mutação , Fatores de Tempo
4.
Orthopedics ; 36(3): e276-81, 2013 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-23464946

RESUMO

Anterior supine intermuscular total hip arthroplasty (THA) performed on a fracture table has been increasingly used for primary THA. Accurate cup placement, low incidence of dislocation, shorter hospital stay, and faster return of function are potential benefits of the technique. However, a high complication rate, particularly during a surgeon's learning curve, has been reported. A retrospective analysis of 61 consecutive anterior supine intermuscular primary THAs with at least 6-month follow-up was performed. All procedures were performed using the anterior supine intermuscular approach with cementless implants under fluoroscopic guidance on a fracture table. Prospectively collected data were retrospectively reviewed to evaluate the early complication rate and radiographic accuracy of implant placement. Five (8.2%) intraoperative complications were observed: including 3 trochanteric fractures and 2 calcar fractures, 4 of which required cable fixation during the index procedure. One nondisplaced trochanteric fracture was treated conservatively. One patient sustained an injury of the lateral femoral cutaneous nerve. Postoperative complications included 1 anterior dislocation, 1 infected superficial hematoma, 1 stem subsidence, and 1 loose stem, with the latter 2 presenting as increasing thigh pain postoperatively and requiring stem revision. The overall complication rate was 16.4% (10/61). Overall, 3 patients (4 hips; 6.5%) required reoperation. No femoral or sciatic nerve injuries occurred, and no patient was diagnosed with venous thromboembolism. All intraoperative fractures occurred during the first 32 cases, and none during the last 29 cases. A potentially high incidence of complications with the anterior supine intermuscular THA exists during a surgeon's learning curve in an academic setting.


Assuntos
Artroplastia de Quadril/efeitos adversos , Adulto , Idoso , Artroplastia de Quadril/métodos , Feminino , Fluoroscopia , Humanos , Curva de Aprendizado , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Resultado do Tratamento
5.
Biomedica ; 33(4): 631-42, 2013.
Artigo em Espanhol | MEDLINE | ID: mdl-24652217

RESUMO

INTRODUCTION: Little has been published in Colombia on HIV drug resistance in patients taking antiretroviral treatment (ART). Currently, the Colombian guidelines do not recommend the use of genotypic antiretroviral resistance tests (GART) for treatment-naive patients or for those experiencing a first therapeutic failure. OBJECTIVE: To determine the frequency of relevant resistance mutations and the degree of susceptibility/ resistance of HIV to antiretroviral drugs (ARVs) in ART-experienced patients. MATERIALS AND METHODS: A non-random sample of 170 ART-experienced HIV patients with virologic failure and who underwent GART was recruited. A study of HIV drug resistance was carried out in two groups of patients: one group that underwent early GART and the other group that received late GART testing. RESULTS: The most frequent type of resistance affected the non-nucleoside class (76%). The late-GART group had higher risk of nucleoside analog and protease inhibitor drug resistance, a higher number of resistance mutations and more complex mutational profiles than the early-GART group. A high cross resistance level (30%) was found in the nucleoside analog class. The least affected medications were tenofovir and darunavir. CONCLUSIONS: Our results suggest that performing GART late is associated with levels of ARV resistance that could restrict the use of an important number of essential ARV in subsequent regimens. There is a need to revise the current recommendations to include GART prior to start of treatment and after the first virologic failure.


Assuntos
Antirretrovirais/uso terapêutico , Farmacorresistência Viral , Infecções por HIV/tratamento farmacológico , Adulto , Antirretrovirais/farmacologia , Colômbia , Estudos Transversais , Feminino , HIV-1/efeitos dos fármacos , HIV-1/genética , Humanos , Masculino , Mutação , Fatores de Tempo
6.
J Orthop Trauma ; 26(2): 86-91, 2012 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-21904224

RESUMO

OBJECTIVES: Femoral reaming and intramedullary nailing (IMN) primes polymorphonuclear leukocytes (PMNL) and thereby increases the posttraumatic systemic inflammatory response. Resuscitation with hypertonic saline (HTS) attenuates PMNL activation after trauma-hemorrhage. We hypothesized that preoperative administration of 7.5% HTS attenuates PMNL priming after IMN of unilateral femur shaft fractures compared with 0.9% normal saline. DESIGN: Prospective, randomized, double-blind study. SETTING: Level I trauma center. PATIENTS: Twenty patients between 18 and 80 years of age with an Injury Severity Score less than 25 and a unilateral femur shaft fracture amenable to IMN fixation within 24 hours after injury. INTERVENTION: Patients were allocated to equally sized HTS or normal saline treatment groups (n = 10) before surgery. Solutions were administered in a blinded bag as a single bolus of 4 mL/kg body weight immediately before surgery. Whole blood samples were collected directly before saline application (t0) and at 6, 12, and 24 hours after surgery. MAIN OUTCOME MEASUREMENTS: PMNL surface expression of CD11b and CD62L, as determined by flow cytometry analysis. RESULTS: Demographic characteristics of both treatment groups were comparable. Baseline expression of CD11b and CD62L cell markers was in a similar range in the two cohorts. The expression levels of CD11b were comparable between the two groups throughout the observation time, whereas CD62L levels were significantly higher in the HTS group at 6 and 24 hours after surgery. CONCLUSION AND SIGNIFICANCE: Preoperative infusion of HTS appears to exert an anti-inflammatory effect by attenuating the extent of postoperative PMNL activation after reamed IMN for femoral shaft fractures.


Assuntos
Fraturas do Fêmur/imunologia , Fraturas do Fêmur/cirurgia , Inflamação/imunologia , Inflamação/prevenção & controle , Ativação de Neutrófilo/efeitos dos fármacos , Pré-Medicação/métodos , Solução Salina Hipertônica/administração & dosagem , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Método Duplo-Cego , Feminino , Fraturas do Fêmur/complicações , Fixação Intramedular de Fraturas , Humanos , Inflamação/etiologia , Masculino , Pessoa de Meia-Idade , Cuidados Pré-Operatórios/métodos , Estudos Prospectivos , Resultado do Tratamento , Adulto Jovem
7.
J Trauma ; 67(3): 602-5, 2009 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-19741407

RESUMO

BACKGROUND: Optimal timing and treatment of patients with concomitant head, thoracic, or abdominal injury and femoral shaft fracture remain controversial. This study examines acute patient outcomes associated with early total care with intramedullary nailing (ETC group) versus damage control external fixation (DCO group) for multiple-injured patients with femoral shaft fractures. We propose DCO as a safe initial treatment for the multiple-injured patient with femur shaft fractures. METHODS: This study was a retrospective review of the trauma registry and multisystem organ failure registry data at a Level I trauma center. Two cohorts were identified to compare multiple-injured patients with femoral shaft fractures treated with early total care and damage control orthopaedic surgery. Primary outcome measures included mortality, pulmonary complications (adult respiratory distress syndrome [ARDS] score), transfusion requirements, and multiple organ failure (MOF score). Operative time, estimated blood loss, intensive care unit length of stay (LOS), and hospital length of stay (LOS) were also compared. RESULTS: During the study period, 462 patients with 481 femoral shaft fractures were identified. Of 462 patients with femoral shaft fractures, 97 met the inclusion criteria (42 ETC and 55 DCO). The DCO group had a significantly shorter operative time (22 minutes vs. 125 minutes) and less estimated blood loss from their operative procedure (37 mL vs. 330 mL). There was no significant difference between the groups for ARDS, lung scores, MOF, MOF score, intensive care unit LOS, or hospital LOS. CONCLUSION: Fracture fixation method did not have an impact on the incidence of systemic complications in multiple-injured patients with femoral shaft fractures. Although minimal differences were noted between DCO and ETC groups regarding systemic complications, DCO is a safer initial approach, significantly decreasing the initial operative exposure and blood loss.


Assuntos
Fraturas do Fêmur/complicações , Fraturas do Fêmur/cirurgia , Fixação Intramedular de Fraturas , Traumatismo Múltiplo/cirurgia , Adulto , Estudos de Coortes , Fixadores Externos , Feminino , Fraturas do Fêmur/mortalidade , Fixação Intramedular de Fraturas/efeitos adversos , Humanos , Tempo de Internação , Masculino , Insuficiência de Múltiplos Órgãos/epidemiologia , Traumatismo Múltiplo/mortalidade , Síndrome do Desconforto Respiratório/epidemiologia , Estudos Retrospectivos , Resultado do Tratamento
8.
J Trauma ; 64(3): 736-9, 2008 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-18332816

RESUMO

PURPOSE: To evaluate healing rates and complications in patients treated with temporary external fixation (EF) and subsequent open reduction and internal fixation (ORIF) for high-energy distal femur or proximal tibia fractures. METHODS: Retrospective analysis of prospectively collected data 1999 to 2005. Demographic data and injury severity score were obtained from medical records. Factors reviewed included perioperative complications (nonunion, postoperative infection, loss of fixation) and time to radiographic and clinical union. RESULTS: Forty-seven patients with 16 distal femur and 36 proximal tibia fractures were treated using temporary EF. Patients subsequently underwent ORIF (mean time from EF to ORIF = 5 days, range 1-23 days). Thirty-five fractures were open (Gustilo I = 8, II = 6, IIIA = 3, IIIB = 13, IIIC = 5) and 17 closed. Forty patients with 44 fractures reached 1-year follow-up. Of these, 36 patients with 40 (91%) fractures had healed both radiographically and clinically. The mean postoperative follow-up time was 14 months (range 3-68). Eight (16%) deep infections occurred, all in open fractures (Gustilo I = 2, IIIB = 3, IIIC = 3), with one patient requiring above knee amputation. Other complications included one hematoma, two malunions, one fixation failure, and one pin site infection. One patient died as a result of a stroke. CONCLUSIONS AND SIGNIFICANCE: Temporary bridging EF offers the advantage of early soft tissue and bone stabilization without the potential local risks of immediate ORIF in severely injured soft tissues, or the potential systemic risks in a severely traumatized patient. The 16% infection rate in this study, all occurring in open fractures, falls within the reported range for grade III open fractures (15%-20%). We conclude that the initial treatment of high-energy periarticular knee fractures with bridging EF, followed by planned conversion to internal fixation is a safe option in patients who are unsuitable for initial definitive surgery.


Assuntos
Fraturas do Fêmur/cirurgia , Fixação de Fratura/métodos , Fraturas da Tíbia/cirurgia , Adolescente , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias , Estudos Retrospectivos , Resultado do Tratamento
10.
Am J Orthop (Belle Mead NJ) ; 36(4): 207-9, 2007 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-17515188

RESUMO

We report on our use of a composite graft of lyophilized cancellous allogenic chips and demineralized bone matrix (DBM; Grafton; Osteotech, Eatontown, NJ) to manage traumatic osseous defects and nonunions. Data were prospectively collected from all patients who received this composite bone graft between 1996 and 2000. Only acute fractures with bone loss resulting in a uncontained defect and atrophic non-unions were included in the present study. Demographic data and complications related to composite use, tobacco use, and other comorbidities that could affect healing were evaluated. One hundred seven patients (112 bone graft sites) were followed up for a mean of 32 months (range, 12-60 months). Graft sites included the forearm, femur and tibia. Of the 112 patients, there were 56 smokers (25 non-unions and 31 fractures) and 56 non-smokers (28 fractures and 28 non-unions). Healing occured in 38/56 smokers compared with 49/56 non-smokers. In failed cases, smoking was characteristic in 7/9 non-unions and 11/16 fractures. There were 26 acute uncontained injuries, 29 acute contained defects, and 67 nonunions. Grafting sites were radius/ulna (13 cases), humerus (17), femur (31), and tibia/fibula (51). Significant comorbidities were diabetes mellitus (4 cases), fungal osteomyelitis (1), and pulmonary alveolar proteinosis (1). Eight (73%) of the 11 patients with graft failure had a significant smoking history. This composite graft is an option for managing osseous defects and nonunions traditionally treated with autologous bone grafting but should be used with caution when treating patients who are smokers.


Assuntos
Substitutos Ósseos/uso terapêutico , Fraturas Ósseas/cirurgia , Fumar/efeitos adversos , Cicatrização , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Técnica de Desmineralização Óssea , Feminino , Fraturas Ósseas/epidemiologia , Fraturas Ósseas/fisiopatologia , Fraturas Expostas/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade , Nicotina/farmacologia , Estudos Prospectivos , Estudos Retrospectivos , Transplante Homólogo , Cicatrização/efeitos dos fármacos
11.
J Orthop Trauma ; 20(5): 310-4; discussion 315-6, 2006 May.
Artigo em Inglês | MEDLINE | ID: mdl-16766932

RESUMO

OBJECTIVE: To report the results of using the expandable nailing system in the treatment of femoral and tibial shaft fractures. DESIGN: Prospective, cohort series. SETTING: Two level-1 university trauma centers. PARTICIPANTS: Forty-eight patients with acute, traumatic diaphyseal fractures of the tibia or femur. INTERVENTION: Internal fixation of lower extremity long bone fractures using expandable intramedullary nailing. MAIN OUTCOME MEASUREMENTS: Perioperative complications and time to healing. RESULTS: Forty-nine long bone fractures were treated: 22 femoral fractures (OTA classification: 4 type A1, 6 A2, 7 A3, 1 B1, and 4 B2) and 27 tibial fractures (OTA classification: 4 type A1, 11 A2, 9 A3, 0 B1, and 3 B2). There were 13 open fractures and 37 closed fractures. Healing occurred in 37 (75%) fractures without additional interventions. There were 2 tibial delayed unions and 1 femoral and 1 tibial nonunion. Five tibial shaft fractures and 6 femoral fractures shortened by 1.0 cm or more postoperatively. In 3 tibias and 4 femurs, shortening occurred after fractures judged to be length-stable became unstable because of fracture propagation during nail expansion. Five tibias and 3 femurs were converted to standard locked nails because of shortening. The average time to healing, excluding nonunion, was 15 weeks in the tibia and 16 weeks in the femur. The expandable nail resulted in an unplanned reoperation in 12 cases (25%). CONCLUSION: We found a high complication rate because of shortening, which was independent of fracture classification. Consequently, we cannot recommend the use of an unlocked, expandable nail in diaphyseal fractures of the femur or tibia.


Assuntos
Fraturas do Fêmur/cirurgia , Fixação Intramedular de Fraturas , Consolidação da Fratura , Complicações Intraoperatórias/diagnóstico por imagem , Fraturas da Tíbia/cirurgia , Feminino , Humanos , Masculino , Radiografia , Resultado do Tratamento
13.
J Orthop Trauma ; 20(1): 19-21, 2006 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-16424805

RESUMO

OBJECTIVE: This study was designed to describe the anatomic insertion point of the deltoid to the proximal humerus. DESIGN: Gross anatomic study. SETTING: Level one academic trauma center. PATIENTS: Cadaveric study. MAIN OUTCOME MEASUREMENTS: Bilateral humeri were stripped of soft tissue except the deltoid insertion point. The length of the humeri was recorded. The distance from the greater tuberosity to the proximal most aspect of the tendinous insertion point and the distal most tendinous attachment was measured. The humeri were cross-sectioned 5-mm distal to the proximal insertion point, 5-mm proximal to the distal insertion point, and midway between these 2 points. The circumferential proportion of humerus into which the tendon inserted at each point was recorded. RESULTS: The mean length of the deltoid insertion was 97 (range, 83-111) mm. The mean distance from the greater tuberosity to the proximal insertion point was 61 (range, 55-75) mm and to the distal insertion was 158 (range, 142-172) mm. The deltoid occupied on average: 8% of the humeral circumference 5 mm from the proximal insertion point, 39% at the mid point of the insertion, and 31% of the humeral circumference 5 mm from the distal insertion point. CONCLUSIONS: The deltoid insertion is long and broad. A 4.5-mm plate would result in detaching 13.5 mm of the insertion, leaving at least half of the original insertion attached to the humerus.


Assuntos
Úmero/anatomia & histologia , Músculo Esquelético/anatomia & histologia , Placas Ósseas , Feminino , Humanos , Masculino , Fatores Sexuais
15.
Orthopedics ; 28(10): 1182-6, 2005 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-16237882

RESUMO

From July 1997 to March 2001, 209 consecutive patients with 215 femoral shaft fractures amenable to antegrade femoral nailing were enrolled. A true percutaneous insertion technique was performed using a stab wound incision. One hundred ninety-seven (92%) fractures achieved primary union with anatomic or near anatomic alignment. Eighteen (8%) healing problems and two deep infections (1%) responded to repeat interventions. There was one iatrogenic complication related to an anterior starting point. External blood loss was minimal (generally <100 cc). Incisions averaged 16 mm and healed uneventfully. At one-year follow-up only 10% of patients had hip abductor pain. The percutaneous technique appears to be a safe and effective alternative to the standard technique. Hip pain at one year appears decreased compared to reports using a traditional approach.


Assuntos
Fraturas do Fêmur/cirurgia , Fixação Intramedular de Fraturas/métodos , Complicações Pós-Operatórias , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Procedimentos Cirúrgicos Minimamente Invasivos , Resultado do Tratamento
17.
J Trauma ; 58(1): 70-5, 2005 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-15674153

RESUMO

BACKGROUND: The treatment of distal humerus fractures has traditionally been performed via a posterior approach and an olecranon osteotomy. The article reports the authors' clinical experience using a triceps-splitting approach for a consecutive series of patients with distal humerus fractures. METHODS: A consecutive series of 37 patients with 39 distal humerus fractures were treated with a triceps-splitting approach. All the fractures were managed with two-column fixation. RESULTS: A total of 33 patients (34 fractures) were available for follow-up evaluation over an average of 26 months (range, 13-48 months). There were five type A and 29 type C fractures. Five of the fractures were grade 1 open. There were three elbows with clinically asymptomatic valgus instability (<5 degrees at 30 degrees flexion) and one elbow with symptomatic varus instability. There was one case of heterotopic ossification, limiting motion; one transient ulnar nerve palsy; one severe infection requiring resection arthroplasty; and five nonunions. Four of the five nonunions involved patients older than 65 years. CONCLUSIONS: The use of a triceps-splitting approach to gain access to the distal humerus provided adequate exposure and had an acceptable complication rate. In addition to allowing for distal humerus reconstruction, it avoided the reported complications of olecranon osteotomy and is easily extensile if required.


Assuntos
Fixação Interna de Fraturas/métodos , Fraturas do Úmero/cirurgia , Músculo Esquelético/cirurgia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias , Amplitude de Movimento Articular , Resultado do Tratamento
20.
Rev. colomb. cardiol ; 9(4): 303-316, feb. 2002. tab, graf
Artigo em Espanhol | LILACS | ID: lil-346591

RESUMO

Objetivo: describir las características clínicas, las pruebas diagnósticas (electrocardiográficas y ecocardiográficas), y el comportamiento genético (herencia, penetrancia y expresividad) y molecular (tipo de mutación específica y localización de ésta) en una familia con antecedente de muerte súbita y cardiomiopatía hipertrófica. Materiales y métodos: se realizó una descripción retrospectiva y prospectiva de 144 individuos pertenecientes a una familia con antecedente de muerte súbita a edades tempranas. Se determinaron las características clínicas y genéticas (patrón de herencia) en los individuos fallecidos (30). Entre los individuos vivos estudiados, en total 96, se determinaron en forma prospectiva las características fenotípicas (historia clínica, electrocardiograma, ecocardiograma, potenciales tardíos y Holter). Las características genotípicas de estos 96 individuos se obtuvieron luego de realizar la secuenciación de ADN. Resultados: se identificó una mutación aún no descrita en la literatura médica, Aspártico 190 Glicina, localizada en el gen de la troponina I (TNNI3), en catorce de todos los individuos estudiados. Se encontró que la disnea era el síntoma más común en los pacientes que presentaban la mutación. Se halló que la penetrancia de la mutación fue del 92.85 por ciento detectada por electrocardiografía, 76.92 por ciento por ecocardiografía, y combinando las dos pruebas fue del 76.92 por ciento. La sensibilidad electrocardiográfíca, ecocardiográfíca y la combinación de ambas pruebas para detectar la mutación, fue del 100 por ciento, 83.33 por ciento y 83.33 por ciento, respectivamente. La especificidad del electrocardiograma, el ecocardiograma y la combinación, fue del 100 por ciento, 98.21 por ciento y 98.18 por ciento, respectivamente. Se documentó muerte súbita en trece individuos entre los 14 y 40 años. Ningún individuo mayor de 40 años murió súbitamente. Conclusiones: esta es la primera descripción de una nueva mutación, Aspártico 190 Glicina, la cual es la causa de cardiomiopatía hipertrófica en esta familia. Dicha mutación se caracteriza por un comportamiento clínico agresivo


Assuntos
Cardiomiopatias , Eletrocardiografia , Morte Súbita Cardíaca/etiologia
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