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1.
Acta Orthop Belg ; 82(2): 376-381, 2016 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-27682303

RESUMEN

Atypical femoral fractures have been associated with long term use of bisphosphonates. Our study plan was to report the outcome of treatment for a series of -patients with an atypical femoral fracture and to compare the characteristics of those patients with a proximal femoral fracture. 21 atypical fractures were identified over a seven year period and these were compared with those of 2.547 hip fracture patients treated over the same time period at a single centre. The mean age of patients with an atypical fracture was on average nine years less than that for the hip fracture patients (72 as against 81 years, p = 0.002). Four (19.0%) of the patients with atypical fracture had no injury associated with the fracture and nine (42.9%) patients had pain prior to presentation at hospital for a mean of 31 days. Patients with atypical fractures were more likely to be smokers (9/21(42.9%) versus 319/2547 (12.5%), p = 0.0001) and more likely to be on long term oral steroid therapy (8/21 (38.1%) versus 131/2547 (5.1%), p < 0.0001) in comparison to other hip fracture patients. All the atypical fractures were treated by intramedullary nailing and healed uneventfully apart from one fracture that developed non-union requiring revision nailing. Residual pain at one year from injury was more prevalent for patients with atypical fractures.


Asunto(s)
Difosfonatos/efectos adversos , Fracturas del Fémur/inducido químicamente , Fracturas del Fémur/cirugía , Adulto , Anciano , Anciano de 80 o más Años , Clavos Ortopédicos , Femenino , Fijación Intramedular de Fracturas/métodos , Fracturas de Cadera/cirugía , Humanos , Masculino , Persona de Mediana Edad , Factores de Riesgo
2.
Clin Genet ; 88(3): 224-33, 2015 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-25131214

RESUMEN

Studies of genomic copy number variants (CNVs) have identified genes associated with autism spectrum disorder (ASD) and intellectual disability (ID) such as NRXN1, SHANK2, SHANK3 and PTCHD1. Deletions have been reported in PTCHD1 however there has been little information available regarding the clinical presentation of these individuals. Herein we present 23 individuals with PTCHD1 deletions or truncating mutations with detailed phenotypic descriptions. The results suggest that individuals with disruption of the PTCHD1 coding region may have subtle dysmorphic features including a long face, prominent forehead, puffy eyelids and a thin upper lip. They do not have a consistent pattern of associated congenital anomalies or growth abnormalities. They have mild to moderate global developmental delay, variable degrees of ID, and many have prominent behavioral issues. Over 40% of subjects have ASD or ASD-like behaviors. The only consistent neurological findings in our cohort are orofacial hypotonia and mild motor incoordination. Our findings suggest that hemizygous PTCHD1 loss of function causes an X-linked neurodevelopmental disorder with a strong propensity to autistic behaviors. Detailed neuropsychological studies are required to better define the cognitive and behavioral phenotype.


Asunto(s)
Trastorno del Espectro Autista/diagnóstico , Trastorno del Espectro Autista/genética , Discapacidad Intelectual/diagnóstico , Discapacidad Intelectual/genética , Proteínas de la Membrana/genética , Mutación , Fenotipo , Eliminación de Secuencia , Adolescente , Adulto , Niño , Preescolar , Exones , Facies , Femenino , Humanos , Lactante , Masculino , Adulto Joven
3.
Anaesthesia ; 70(5): 623-6, 2015 May.
Artículo en Inglés | MEDLINE | ID: mdl-25866041

RESUMEN

Concise guidelines are presented for the preparation and conduct of anaesthesia and surgery in patients undergoing cemented hemiarthroplasty for hip fracture. The Working Party specifically considered recent publications highlighting complications occurring during the peri-operative period. The advice presented is based on previously published advice and clinical studies.


Asunto(s)
Artroplastia/efectos adversos , Artroplastia/normas , Cementos para Huesos/efectos adversos , Consenso , Humanos , Irlanda , Seguridad del Paciente , Atención Perioperativa/normas , Síndrome , Reino Unido
4.
Ann Surg Oncol ; 21(6): 1929-36, 2014 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-24477709

RESUMEN

OBJECTIVE: Pancreaticoduodenectomy is the standard of care for tumors confined to the head of pancreas and can be undertaken with low operative mortality. The procedure has a high morbidity, particularly in older patient populations with preexisting comorbidities. This study evaluated the role of cardiopulmonary exercise testing to predict postoperative morbidity and outcome in high-risk patients undergoing pancreaticoduodenectomy. METHODS: In a prospective cohort of consecutive patients undergoing pancreaticoduodenectomy, those aged over 65 years (or younger with comorbidity) were categorized as high risk and underwent preoperative assessment by cardiopulmonary exercise testing (CPET) according to a predefined protocol. Data were collected on functional status, postoperative complications, and survival. RESULTS: A total of 143 patients underwent preoperative assessment, 50 of whom were deemed to be at low risk for surgery per study protocol. Of 93 high-risk patients, 64 proceeded to surgery after preoperative CPET. Neither anaerobic threshold (AT) nor maximal oxygen consumption ([Formula: see text] O 2 MAX) predicted patient mortality or morbidity. However, ventilatory equivalent of carbon dioxide ([Formula: see text] E/[Formula: see text] CO 2) at AT was a predictive marker of postoperative mortality, with an area under the curve (AUC) of 0.84 (95 % confidence interval [CI] 0.63-1.00, p = 0.020); a threshold of 41 was 75 % sensitive and 95 % specific (positive predictive value 50 %, negative predictive value 98 %). Above this threshold, raised [Formula: see text] E/[Formula: see text] CO 2 predicted poor long-term survival (hazard ratio 2.05, 95 % CI 1.09-3.86, p = 0.026). CONCLUSIONS: CPET is a useful adjunctive test for predicting postoperative outcome in patients being assessed for pancreaticoduodenectomy. Raised CPET-derived [Formula: see text] E/[Formula: see text] CO 2 predicts early postoperative death and poor long-term survival.


Asunto(s)
Carcinoma/cirugía , Prueba de Esfuerzo , Neoplasias Pancreáticas/cirugía , Pancreaticoduodenectomía/efectos adversos , Adulto , Anciano , Anciano de 80 o más Años , Umbral Anaerobio/fisiología , Área Bajo la Curva , Dióxido de Carbono , Femenino , Mortalidad Hospitalaria , Humanos , Estimación de Kaplan-Meier , Masculino , Persona de Mediana Edad , Neoplasias Pancreáticas/mortalidad , Pancreaticoduodenectomía/mortalidad , Valor Predictivo de las Pruebas , Cuidados Preoperatorios , Estudios Prospectivos , Ventilación Pulmonar/fisiología , Curva ROC , Medición de Riesgo , Factores de Tiempo
5.
Anaesthesia ; 69(1): 32-6, 2014 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-24205900

RESUMEN

Malignant obstructive jaundice is associated with poor aerobic capacity. We measured oxygen consumption and oxygen extraction (arterial-venous oxygen content) in the legs of nine patients during cardiopulmonary exercise testing before pancreaticoduodenectomy. The median (IQR [range]) peak oxygen consumption was 67 (49-77 [32-84])% of predicted. Normal patterns of oxygen extraction were seen with increasing power towards lactate threshold. Near maximal oxygen extraction occurred at peak exercise. Femoral venous oxygen pressure and saturation exceeded baseline values whilst recovering from exercise. These findings suggest that peripheral oxygen extraction is normal during exercise in patients with malignant obstructive jaundice. The primary limitation in oxygen consumption is reduced oxygen delivery.


Asunto(s)
Ictericia Obstructiva/sangre , Oxígeno/sangre , Anciano , Anciano de 80 o más Años , Neoplasias del Sistema Biliar/complicaciones , Ejercicio Físico/fisiología , Prueba de Esfuerzo , Femenino , Vena Femoral/fisiopatología , Humanos , Ictericia Obstructiva/etiología , Ictericia Obstructiva/fisiopatología , Ácido Láctico/sangre , Masculino , Persona de Mediana Edad , Consumo de Oxígeno/fisiología , Presión Parcial , Proyectos Piloto
6.
Br J Surg ; 99(8): 1097-104, 2012 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-22696424

RESUMEN

BACKGROUND: Contemporary liver surgery practice must accurately assess operative risk in increasingly elderly populations with greater co-morbidity. This study evaluated preoperative cardiopulmonary exercise testing (CPET) in high-risk patients undergoing hepatic resection. METHODS: In a prospective cohort referred for liver resection, patients aged over 65 years (or younger with co-morbidity) were evaluated by preoperative CPET. Data were collected prospectively on functional status, postoperative complications and survival. RESULTS: Two hundred and four patients were assessed for hepatic resection, of whom 108 had preoperative CPET. An anaerobic threshold (AT) of 9·9 ml O(2) per kg per min predicted in-hospital death and subsequent survival. Below this value, AT was 100 per cent sensitive and 76 per cent specific for in-hospital mortality, with a positive predictive value (PPV) of 19 per cent and a negative predictive value (NPV) of 100 per cent: no deaths occurred above the threshold. Age and respiratory efficiency in the elimination of carbon dioxide (VE/VCO(2)) at AT were statistically significant predictors of postoperative complications. Receiver operating characteristic (ROC) curve analysis showed that a threshold of 34·5 for VE/VCO(2) at AT provided a specificity of 84 per cent and a sensitivity of 47 per cent, with a PPV of 76 (95 per cent confidence interval (c.i.) 58 to 88) per cent and a NPV of 60 (48 to 72) per cent for postoperative complications. Long-term survival of those with an AT of less than 9·9 ml O(2) per kg per min was significantly worse than that of patients with a higher AT (hazard ratio for mortality 1·81, 95 per cent c.i. 1·04 to 3·17; P = 0·036). CONCLUSION: CPET provides a useful prognostic adjunct in the preoperative assessment of patients undergoing hepatic resection.


Asunto(s)
Prueba de Esfuerzo/métodos , Hepatectomía/métodos , Neoplasias Hepáticas/cirugía , Complicaciones Posoperatorias/prevención & control , Adulto , Anciano , Anciano de 80 o más Años , Umbral Anaerobio/fisiología , Enfermedades Cardiovasculares/prevención & control , Femenino , Hepatectomía/mortalidad , Mortalidad Hospitalaria , Humanos , Tiempo de Internación/estadística & datos numéricos , Neoplasias Hepáticas/mortalidad , Masculino , Persona de Mediana Edad , Cuidados Preoperatorios , Estudios Prospectivos , Curva ROC , Trastornos Respiratorios/prevención & control , Medición de Riesgo/métodos , Adulto Joven
7.
J Med Genet ; 48(5): 290-8, 2011 May.
Artículo en Inglés | MEDLINE | ID: mdl-21343628

RESUMEN

Recurrent deletions of 2q32q33 have recently been reported as a new microdeletion syndrome, clinical features of which include significant learning difficulties, growth retardation, dysmorphic features, thin and sparse hair, feeding difficulties, and cleft or high palate. Haploinsufficiency of one gene within the deleted region, SATB2, has been suggested to be responsible for most of the features of the syndrome. This article describes seven previously unreported patients with deletions at 2q33.1, all partially overlapping the previously described critical region for the 2q33.1 microdeletion syndrome. The deletions ranged in size from 35 kb to 10.4 Mb, with the smallest deletion entirely within the SATB2 gene. Patients demonstrated significant developmental delay and challenging behaviour, a particular behavioural phenotype that seems to be emerging with more reported patients with this condition. One patient in this cohort has a deletion entirely within SATB2 and has a cleft palate, whereas several patients with larger deletions have a high arched palate. In addition, one other patient has significant orthopaedic problems with ligamentous laxity. Interestingly, this patient has a deletion that lies just distal to SATB2. The orthopaedic problems have not been reported previously and are possibly an additional feature of this syndrome. Overall, this report provides further evidence that the SATB2 gene is the critical gene in this microdeletion syndrome. In addition, because the individuals in this study range in age from 3-19 years, these patients will help define the natural progression of the phenotype in patients with this microdeletion.


Asunto(s)
Deleción Cromosómica , Trastornos de los Cromosomas/genética , Cromosomas Humanos Par 2/genética , Fenotipo , Adolescente , Niño , Preescolar , Hibridación Genómica Comparativa , Femenino , Humanos , Hibridación Fluorescente in Situ , Masculino , Proteínas de Unión a la Región de Fijación a la Matriz/genética , Síndrome , Factores de Transcripción/genética , Adulto Joven
8.
Injury ; 53(2): 584-589, 2022 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-34920879

RESUMEN

BACKGROUND: Timing of hip fracture surgery for the internal fixation of an intracapsular fracture remains controversial and few studies to date have been able to determine the optimum time to surgery in minimizing osteonecrosis and non-union with intracapsular fractures after fixation. METHODS: Using a local hip fracture database managed by the senior author over a 32 year period, those who underwent osteosynthesis following intracapsular fractures were assessed for risk of development of non-union and osteonecrosis. Multivariate regression analysis was performed focusing on factors that were predictive of complications. Patient demographics, time from injury to surgery, fixation method, fracture pattern and complications at one year were reported. The primary outcome was whether delay to surgery contributed to risk of complications, defined as non-union or osteonecrosis. Secondary outcomes assessed the contribution of other factors to these complications. RESULTS: 2,366 patients were identified with an average age of 74.7 years and 66.5% were female. 1189 (50.3%) of fractures were displaced. 481 (20.3%) had a complication at one year following fixation. 78 (3.3%) were fixed by DHS, 6 (0.3%) by cephalomedullary nail, (1257) 53.1% by cannulated screws and 1025 (43.3%) by Targon® screw. Multivariate regression revealed no significant correlation between delay to surgery and complication rates (OR 0.99, 95% CI 0.99, 1.01, p = 0.55). Significant variables include female sex (OR 2.03, 95% CI 1.58, 2.62, p<0.0001), fracture displacement (OR 4.8, 95% CI 3.79, 6.14, p<0.0001), independent mobility (OR 0.64, 95% CI 0.47, 0.87, p = 0.004) and use of Targon® screws compared to parallel screws (OR 0.61, 95% CI 0.48, 0.76, p<0.0001). CONCLUSIONS: Our study demonstrates no relationship between timing of surgery for fixation of intracapsular fracture and complication rates. Female sex and fracture displacement increased risk of complications whereas independent mobility and use of Targon® screw device in comparison to parallel screws were protective against non-union but not avascular necrosis.


Asunto(s)
Fracturas del Cuello Femoral , Fracturas de Cadera , Osteonecrosis , Anciano , Tornillos Óseos , Femenino , Fracturas del Cuello Femoral/cirugía , Fijación Interna de Fracturas , Fracturas de Cadera/cirugía , Humanos , Resultado del Tratamiento
9.
Injury ; 52(4): 914-917, 2021 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-33041015

RESUMEN

INTRODUCTION: Lower limb amputees, regardless of age are at an increased risk of developing fragility fractures of the neck of femur. The characteristics and outcomes of the fractures of the neck of femur in lower limb amputees have not been studied in detail. METHODS: We undertook a retrospective review of a prospectively collected single centre and single surgeon database between March 1996 and January 2017, using a standard proforma to identify patients who required surgical intervention for fracture neck of femur and had sustained a previous lower limb amputation and compared them with a cohort of standard hip fracture patients. RESULTS: Twenty-seven patients, sustaining 28 fractures of the neck of femurs were identified of which 16 were females with mean age of 78 years (50-89). Nineteen fractures were sustained on the ipsilateral side of the amputation. Results showed that seventy percent of amputees returned to their previous level of mobility and prior residence. Mortality in this group is higher as compared to a standard hip fracture patient but pain and mobility were comparable in both groups. DISCUSSION: The incidence of both hip fractures and amputations in increasing worldwide but no study has compared outcomes of hip fractures in amputees and compared them to a standard hip fracture patient. Amputees exhibit reduced bone density both at the hip and stump end which increases risk for osteoporosis and fragility fractures in the hip. The management of our patients followed orthopaedic principles, well established surgical interventions and rehabilitation. CONCLUSION: This study reveals that hip fractures in amputees can have comparable results to a standard hip fracture cohort if preoperative optimisation, planning and postoperative rehabilitation is carried out.


Asunto(s)
Amputados , Fracturas de Cadera , Osteoporosis , Anciano , Anciano de 80 o más Años , Femenino , Fracturas de Cadera/cirugía , Humanos , Extremidad Inferior/cirugía , Masculino , Persona de Mediana Edad , Estudios Retrospectivos
10.
J Hum Nutr Diet ; 23(3): 277-84, 2010 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-20337841

RESUMEN

BACKGROUND: For patients with a diagnosis of head and neck cancer, oral nutrition may not provide adequate nutrition during radical radiotherapy or chemoradiation treatment, resulting in enteral feeding initiation. Enteral feeding may be delivered via a nasogastric tube or by a gastrostomy tube. The present study aimed to determine how different treatment modalities impact on requirement for enteral feeding and which method of enteral feeding provided the most benefit to the patient, as demonstrated by weight loss and the number of unscheduled radiotherapy treatment interruptions. METHODS: Patients who were treated with radical radiotherapy or chemoradiation between January 2004 and June 2007 were reviewed retrospectively (n = 196, male = 149, female = 47). Data were collected on demographics, diagnosis, T and N classification, nutritional status, unscheduled radiotherapy treatment interruptions, and type and duration of enteral feeding. Subjects were divided into three subgroups depending on the treatment received. Comparisons were then made between methods of enteral feeding. RESULTS: Combined modality treatment (Induction Chemotherapy and Chemoradiation) results in a higher proportion of patients requiring enteral feeding (66-71% compared to 12% for radiotherapy). Patients fed via a prophylactic percutaneous endoscopic gastrostomy lost the least amount of weight during treatment (-4.6% to +1.4%), although the method of enteral feeding did not statistically influence weight difference at the end of treatment. The enteral feeding method did not influence unscheduled radiotherapy treatment interruptions. CONCLUSIONS: Combined modality treatment results in a greater requirement for enteral feeding, with these patient groups having the greatest weight loss. The findings obtained in the present study indicate that the method of enteral feeding did not statistically influence weight loss at the end of treatment or unscheduled radiotherapy treatment interruptions.


Asunto(s)
Nutrición Enteral/métodos , Gastrostomía , Neoplasias de Cabeza y Cuello/tratamiento farmacológico , Neoplasias de Cabeza y Cuello/radioterapia , Intubación Gastrointestinal , Desnutrición/terapia , Adulto , Antineoplásicos/efectos adversos , Terapia Combinada , Femenino , Gastroscopía , Neoplasias de Cabeza y Cuello/complicaciones , Humanos , Masculino , Desnutrición/etiología , Radioterapia/efectos adversos , Estudios Retrospectivos , Pérdida de Peso
12.
Bone Joint J ; 100-B(12): 1618-1625, 2018 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-30499311

RESUMEN

AIMS: This study describes and compares the operative management and outcomes in a consecutive case series of patients with dislocated hemiarthroplasties of the hip, and compares outcomes with those of patients not sustaining a dislocation. PATIENTS AND METHODS: Of 3326 consecutive patients treated with hemiarthroplasty for fractured neck of femur, 46 (1.4%) sustained dislocations. Of the 46 dislocations, there were 37 female patients (80.4%) and nine male patients (19.6%) with a mean age of 83.8 years (66 to 100). Operative intervention for each, and subsequent dislocations, were recorded. The following outcome measures were recorded: dislocation; mortality up to one-year post-injury; additional surgery; residential status; mobility; and pain score at one year. RESULTS: Of 43 dislocations, 30 (70%) occurred within one month and 42 (98%) occurred within three months of hip fracture surgery. Seven (16%) of these patients were treated with a single closed reduction and sustained no further dislocations. Four (9%) were treated with open reduction and experienced no further dislocations. Three (7%) hips were left dislocated and the remaining 32 (74%) patients required additional surgery of further closed reduction, revision, or excision arthroplasty. The one-year mortality rates for patients treated with two or fewer reductions (open or closed), successful revision arthroplasty, and excision arthroplasty were 3/14 (21%), 1/7 (14%), and 8/14 (57%) respectively. The only statistically significant difference in mortality was the difference between patients who did not sustain a dislocation and those who did and were treated by excision arthroplasty (p = 0.03). Patients treated by excision arthroplasty had the greatest reduction in mobility scores and highest pain scores. The excision arthroplasty group also included the greatest proportion of patients not able to mobilize and the smallest proportion of patients remaining in their own home. CONCLUSION: Most dislocations of hemiarthroplasties of the hip occur within one month of surgery. Closed reduction is generally unsuccessful. For those patients with unsuccessful closed reduction, revision arthroplasty should be considered when possible, as this results in a better functional outcome with a lower mortality than excision arthroplasty.


Asunto(s)
Manejo de la Enfermedad , Fracturas del Cuello Femoral/cirugía , Hemiartroplastia/efectos adversos , Luxación de la Cadera/cirugía , Articulación de la Cadera/cirugía , Complicaciones Posoperatorias , Anciano , Anciano de 80 o más Años , Femenino , Estudios de Seguimiento , Luxación de la Cadera/etiología , Luxación de la Cadera/fisiopatología , Articulación de la Cadera/diagnóstico por imagen , Articulación de la Cadera/fisiopatología , Humanos , Masculino , Persona de Mediana Edad , Diseño de Prótesis , Radiografía , Rango del Movimiento Articular , Reoperación , Estudios Retrospectivos
13.
Cochrane Database Syst Rev ; (3): CD001825, 2007 Jul 18.
Artículo en Inglés | MEDLINE | ID: mdl-17636687

RESUMEN

BACKGROUND: Closed suction drainage systems are frequently used to drain fluids, particularly blood, from surgical wounds. The aim of these systems is to reduce the occurrence of wound haematomas and infection. OBJECTIVES: To evaluate the effectiveness of closed suction drainage systems for orthopaedic surgery. SEARCH STRATEGY: We searched the Cochrane Bone, Joint and Muscle Trauma Group Specialised Register (March 2006), and contacted the Cochrane Wounds Group. We also searched the Cochrane Central Register of Controlled Trials (The Cochrane Library 2006, Issue 1), and MEDLINE (1966 to March 2006). Articles of all languages were considered. SELECTION CRITERIA: All randomised or quasi-randomised trials comparing the use of closed suction drainage systems with no drainage systems for all types of elective and emergency orthopaedic surgery. DATA COLLECTION AND ANALYSIS: Two authors independently assessed trial quality, using a nine item scale, and extracted data. Where appropriate, results of comparable studies were pooled. MAIN RESULTS: Thirty-six studies involving 5464 participants with 5697 surgical wounds were identified. The types of surgery involved were hip and knee replacement, shoulder surgery, hip fracture surgery, spinal surgery, cruciate ligament reconstruction, open meniscectomy and fracture fixation surgery. Pooling of results indicated no statistically significant difference in the incidence of wound infection, haematoma, dehiscence or re-operations between those allocated to drains and the un-drained wounds. Blood transfusion was required more frequently in those who received drains. The need for reinforcement of wound dressings and the occurrence of bruising were more common in the group without drains. AUTHORS' CONCLUSIONS: There is insufficient evidence from randomised trials to support the routine use of closed suction drainage in orthopaedic surgery. Further randomised trials with larger patient numbers are required for different operations before definite conclusions can be made for all types of orthopaedic operations.


Asunto(s)
Hematoma/prevención & control , Procedimientos Ortopédicos/efectos adversos , Complicaciones Posoperatorias/prevención & control , Succión/métodos , Humanos , Ensayos Clínicos Controlados Aleatorios como Asunto , Dehiscencia de la Herida Operatoria/prevención & control , Infección de la Herida Quirúrgica/prevención & control
14.
Genet Couns ; 18(4): 357-65, 2007.
Artículo en Inglés | MEDLINE | ID: mdl-18286816

RESUMEN

The t(4;8)(p16;p23) is the second most common constitutional chromosomal translocation and is caused by an ectopic meiotic recombination between the olfactory receptor gene clusters (ORGC), located on chromosome 4p and 8p. Given that ORGCs are scattered across the genome and make-up about 0.1% of the human genome we reasoned that translocations between 4p16 and other chromosomes might be mediated by ectopic recombination between different ORGC. In 13 patients, we mapped the breakpoints of either a balanced or unbalanced translocation between chromosome 4p16 and different chromosomes. For all four t(4;8) cases, the breakpoints fall within the 4p and 8pter ORGC, confirming that non-allelic homologous recombination (NAHR) between the ORGC is the main mechanism of the t(4;8) formation. For the nine other translocations, the breakpoints on chromosome 4 mapped to different loci, one of them within the ORGC and in two flanking the ORGC. In these three cases, the translocation breakpoint at the reciprocal chromosome did not contain ORGC sequences. We conclude that only the t(4;8) is mediated by NAHR between ORGC.


Asunto(s)
Cromosomas Humanos Par 4/genética , Familia de Multigenes/genética , Receptores Odorantes/genética , Translocación Genética/genética , Síndrome de Wolf-Hirschhorn/genética , Adulto , Femenino , Humanos , Hibridación Fluorescente in Situ , Cariotipificación , Masculino , Fenotipo , Telómero/genética
15.
Knee ; 14(5): 348-51, 2007 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-17669660

RESUMEN

There is still debate over the use of drains following anterior cruciate ligament reconstruction surgery. We have performed a systematic review of the literature for randomised trials that related to the use of closed suction drains following anterior cruciate ligament reconstruction surgery. Five studies involving 349 patients were identified. There was no significant difference in the occurrence of wound healing complications, infections or the number of aspirations for haemarthrosis. There was also no difference in post-operative range of movement, functional score or incidence of limb swelling. The difference in pain scores varied between authors with some reporting increased pain in the drained group. All other outcomes reported failed to show any benefit for the use of drains. The authors recommend not using a drain following anterior cruciate ligament reconstruction with either Bone-Patellar Tendon-Bone or Quadrupled Hamstring graft.


Asunto(s)
Ligamento Cruzado Anterior/cirugía , Drenaje , Cuidados Posoperatorios , Succión , Lesiones del Ligamento Cruzado Anterior , Artroscopía , Plastía con Hueso-Tendón Rotuliano-Hueso , Humanos , Dimensión del Dolor , Complicaciones Posoperatorias/prevención & control , Ensayos Clínicos Controlados Aleatorios como Asunto , Tendones/trasplante
16.
Bone Joint J ; 99-B(9): 1210-1215, 2017 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-28860402

RESUMEN

AIMS: To compare the outcomes for trochanteric fractures treated with a sliding hip screw (SHS) or a cephalomedullary nail. PATIENTS AND METHODS: A total of 400 patients with a trochanteric hip fracture were randomised to receive a SHS or a cephalomedullary nail (Targon PFT). All surviving patients were followed up to one year from injury. Functional outcome was assessed by a research nurse blinded to the implant used. RESULTS: Recovery of mobility, as assessed by a mobility scale, was superior for those treated with the intramedullary nail compared with the SHS at eight weeks, three and nine months (p-values between 0.01 and 0.04), the difference at six and 12 months was not statistically significant (p = 0.15 and p = 0.18 respectively). The mean difference was around 0.4 points (0.3 to 0.5) on a nine point scale. Surgical time for the nail was four minutes less than that for the SHS (p < 0.001). Fracture healing complications were similar for the two groups. There were no statistically significant differences between implants for any other recorded outcomes including the need for post-operative blood transfusion, wound healing complications, general medical complications, hospital stay or mortality. CONCLUSION: This study confirms the findings of a previous study that both methods of treatment produce similar results, although intramedullary fixation does result in marginally improved regain of mobility in comparison with the SHS. Cite this article: Bone Joint J 2017;99-B:1210-15.


Asunto(s)
Clavos Ortopédicos , Tornillos Óseos , Fijación Intramedular de Fracturas/instrumentación , Fracturas de Cadera/cirugía , Adulto , Anciano , Anciano de 80 o más Años , Evaluación de la Discapacidad , Femenino , Curación de Fractura , Humanos , Masculino , Persona de Mediana Edad , Recuperación de la Función , Factores de Tiempo , Resultado del Tratamiento
17.
J Pediatr Intensive Care ; 6(3): 165-175, 2017 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-31073443

RESUMEN

Objective To develop standardized definitions for a list of indicators that represent significant events during pediatric transport, which were previously identified by a national Delphi study. Methods We designed a three-phase consensus process that applied Delphi methodology to a combination of electronic questionnaires and a live consensus meeting. Results Thirty-one pediatric transport experts evaluated a total of 59 indicators. Twenty-four indicators represented events or interventions that did not require definition. One indicator was removed from the list. Definitions for the remaining 34 indicators were developed. Conclusion This standardized indicator list is intended for application to quality improvement and clinical research initiatives.

18.
Bone ; 94: 65-74, 2017 01.
Artículo en Inglés | MEDLINE | ID: mdl-27789416

RESUMEN

BACKGROUND: Osteogenesis imperfecta (OI), the commonest inherited bone fragility disorder, affects 1 in 15,000 live births resulting in frequent fractures and reduced mobility, with significant impact on quality of life. Early diagnosis is important, as therapeutic advances can lead to improved clinical outcome and patient benefit. REPORT: Whole exome sequencing in patients with OI identified, in two patients with a multi-system phenotype, compound heterozygous variants in NBAS (neuroblastoma amplified sequence). Patient 1: NBAS c.5741G>A p.(Arg1914His); c.3010C>T p.(Arg1004*) in a 10-year old boy with significant short stature, bone fragility requiring treatment with bisphosphonates, developmental delay and immunodeficiency. Patient 2: NBAS c.5741G>A p.(Arg1914His); c.2032C>T p.(Gln678*) in a 5-year old boy with similar presenting features, bone fragility, mild developmental delay, abnormal liver function tests and immunodeficiency. DISCUSSION: Homozygous missense NBAS variants cause SOPH syndrome (short stature; optic atrophy; Pelger-Huet anomaly), the same missense variant was found in our patients on one allele and a nonsense variant in the other allele. Recent literature suggests a multi-system phenotype. In this study, patient fibroblasts have shown reduced collagen expression, compared to control cells and RNAseq studies, in bone cells show that NBAS is expressed in osteoblasts and osteocytes of rodents and primates. These findings provide proof-of-concept that NBAS mutations have mechanistic effects in bone, and that NBAS variants are a novel cause of bone fragility, which is distinguishable from 'Classical' OI. CONCLUSIONS: Here we report on variants in NBAS, as a cause of bone fragility in humans, and expand the phenotypic spectrum associated with NBAS. We explore the mechanism underlying NBAS and the striking skeletal phenotype in our patients.


Asunto(s)
Mutación/genética , Proteínas de Neoplasias/genética , Osteogénesis Imperfecta/genética , Secuencia de Bases , Células Cultivadas , Niño , Preescolar , Fibroblastos/patología , Heterocigoto , Humanos , Lactante , Recién Nacido , Masculino , Proteínas de Neoplasias/química , Osteogénesis Imperfecta/diagnóstico por imagen , Dominios Proteicos , Piel/patología , Piel/ultraestructura
19.
Cochrane Database Syst Rev ; (3): CD001706, 2006 Jul 19.
Artículo en Inglés | MEDLINE | ID: mdl-16855974

RESUMEN

BACKGROUND: Numerous types of arthroplasties may be used in the surgical treatment of a hip fracture (proximal femoral fracture). The main differences between the implants are in the design of the stems, whether the stem is fixed in place with or without cement, whether a second articulating joint is included within the prosthesis (bipolar prosthesis) or whether a partial (hemiarthroplasty) or total whole hip replacement is used. OBJECTIVES: To review all randomised controlled trials that have compared different arthroplasties for the treatment of hip fractures in adults. SEARCH STRATEGY: We searched the Cochrane Bone, Joint and Muscle Trauma Group Specialised Register (December 2005), the Cochrane Central Register of Controlled Trials (The Cochrane Library Issue 4, 2005), MEDLINE, EMBASE, the UK National Research Register, several orthopaedic journals, conference proceedings and reference lists of articles. SELECTION CRITERIA: All randomised and quasi-randomised controlled trials comparing different arthroplasties and their insertion with or without cement, for the treatment of hip fractures. DATA COLLECTION AND ANALYSIS: Two review authors independently assessed trial quality, by use of a ten-item checklist, and extracted data. MAIN RESULTS: Seventeen trials involving 1920 patients were included. One trial involved two comparisons. Cemented prostheses, when compared with uncemented (six trials, 549 participants) were associated with less pain at a year or later (16/52 versus 28/52; RR 0.51, 95% CI 0.31 to 0.81) and a tendency to better mobility. No significant difference in surgical complications was found. Comparison of unipolar hemiarthroplasty with bipolar hemiarthroplasty (seven trials, 857 participants, 863 fractures) showed no significant differences between the two types of implant. Two trials involving 232 patients compared uncemented hemiarthroplasty with a total hip replacement. Both studies reported increased pain for the uncemented prosthesis and one study found better mobility and a lower long-term revision rate for those treated with a THR. Two trials involving 214 participants compared cemented hemiarthroplasty versus total hip replacement. Both trials generally found little difference between prostheses. THR was associated with a slightly longer surgical time but a tendency to better functional outcome in one trial. AUTHORS' CONCLUSIONS: There is limited evidence that cementing a prosthesis in place may reduce post-operative pain and lead to better mobility. There is insufficient evidence to determine the roles of bipolar prostheses and total hip replacement. Further well-conducted randomised trials are required.


Asunto(s)
Artroplastia de Reemplazo de Cadera/métodos , Cementos para Huesos , Fracturas de Cadera/cirugía , Adulto , Fracturas del Cuello Femoral/cirugía , Humanos , Diseño de Prótesis , Ensayos Clínicos Controlados Aleatorios como Asunto , Resultado del Tratamiento
20.
Cochrane Database Syst Rev ; (4): CD001708, 2006 Oct 18.
Artículo en Inglés | MEDLINE | ID: mdl-17054139

RESUMEN

BACKGROUND: Displaced intracapsular fractures may be treated by either reduction and internal fixation, which preserves the femoral head, or by replacement of the femoral head with an arthroplasty. OBJECTIVES: To review all randomised controlled trials that have compared internal fixation with arthroplasty for intracapsular femoral fractures in adults. SEARCH STRATEGY: We searched the Cochrane Bone, Joint and Muscle Trauma Group Specialised Register (December 2005), the Cochrane Central Register of Controlled Trials (The Cochrane Library 2005, Issue 4), MEDLINE, EMBASE, the UK National Research Register, several orthopaedic journals, conference proceedings and reference lists of articles. We contacted trialists where possible. SELECTION CRITERIA: All randomised and quasi-randomised controlled trials comparing internal fixation with arthroplasty for intracapsular hip fractures in adults. DATA COLLECTION AND ANALYSIS: Trial quality was assessed by use of a 10 item scale. At least two review authors independently assessed trial quality and extracted data. Additional information was sought from trialists. After grouping into three broad categories, comparable groups of trials were subgrouped and where appropriate, data were pooled using the fixed-effect model. MAIN RESULTS: Seventeen trials involving 2694 participants were included. Length of surgery, operative blood loss, need for blood transfusion and risk of deep wound infection were significantly less for internal fixation compared with arthroplasty. Arthroplasty had a significantly lower re-operation rate in comparison with fixation. No definite differences for hospital stay, mortality, or regain of same residential state were found. Limited information from some studies suggested pain was less and function was better for a cemented arthroplasty in comparison to fixation. AUTHORS' CONCLUSIONS: Internal fixation is associated with less initial operative trauma but has an increased risk of re-operation on the hip. Definite conclusions cannot be made for differences in pain and residual disability between the two groups. Future studies should concentrate on better reporting of final outcome measures and there is still a need for studies to define which patient groups are better served by the different treatment methods.


Asunto(s)
Artroplastia de Reemplazo de Cadera , Fijación Interna de Fracturas , Fracturas de Cadera/cirugía , Adulto , Artroplastia de Reemplazo de Cadera/efectos adversos , Fijación Interna de Fracturas/efectos adversos , Humanos , Ensayos Clínicos Controlados Aleatorios como Asunto
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