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Background: High-grade isthmic spondylolisthesis poses a clinical challenge in the pediatric and adolescent population. Current surgical management using posterior-based approaches may lead to incomplete reduction and restoration of listhesis, disc height, and lordosis. Combined anterior and posterior approach addresses these issues but has been infrequently reported, mainly in the treatment of low-grade isthmic spondylolisthesis. Neither offers good disc space visualization and control of spinal alignment during reduction. Case Description: A healthy 17-year-old female presented with 9 months of progressively worsening lower back pain radiating down the left lower extremity and 3 inches of height loss. Diagnosis of grade IV L5-S1 spondylolisthesis was made using plain radiographs, CT, and MRI. Management with combined anterior and posterior fusion, involving the manual manipulation of segments using an anterior pedicle screw joystick, was pursued. Outcome: Satisfactory alignment, solid arthrodesis, no complications, and improved patient reported outcomes. Conclusions: Combined anterior and posterior fusion with anterior joystick manipulation allowed for full reduction of grade IV spondylolisthesis and restoration of disc/foraminal height and L5-S1 segmental lordosis without neurological complication. Although less commonly performed in children and adolescents, this surgical approach can assist in restoring optimal alignment in isthmic spondylolisthesis.
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Purpose: To compare subjective outcomes and complications of anterior cruciate ligament reconstruction (ACLR) using either bone-patellar tendon-bone (BPTB) or quadriceps tendon (QT) autograft. Methods: A retrospective analysis of prospectively collected data identified consecutive cohorts of patients undergoing ACLR with either BPTB or QT autograft. Patients with less than 12-month follow-up and those undergoing concomitant osteotomies, cartilage restoration, and/or other ligament reconstruction procedures were excluded. Pre- and postsurgical patient-reported outcomes including International Knee Documentation Committee, Knee Injury and Osteoarthritis Outcome Score, Patient-Reported Outcomes Measurement Information System (PROMIS), Single Assessment Numeric Evaluation, Tegner, and Marx were compared between groups. Complications requiring reoperation were recorded. Results: One hundred nineteen patients met inclusion criteria, including 39 QT autografts and 80 BPTB autografts. Demographic information was comparable between groups. Mean follow-up was comparable between groups (QT 22.4 ± 10.6 months vs BPTB 28.5 ± 18.5 months, P = .06). At minimum 12-month follow-up (range 12.0-100.8 months), patients in both groups demonstrated statistically significant improvements in International Knee Documentation Committee (QT 60.0%, P < .0001; BPTB 57.7%, P < .0001), all Knee Injury and Osteoarthritis Outcome Score domains, PROMIS Mobility T-Score (QT 27.2%, P = .0001; BPTB 23.2%, P < .0001), PROMIS Global Physical Health (QT 14.4%, P = .002; BPTB 13.4%, P = .001), PROMIS Physical Function (QT 29.6%, P < .0001; BPTB 37.1%, P < .0001), PROMIS Pain Interference (QT -16.5%, P < .0001; BPTB -20.8%, P < .0001), Single Assessment Numeric Evaluation, (QT 76.9%, P < .0001; BPTB 73.3%, P < .0001), Tegner (QT 92.9%, P = .0002; BPTB 101.4%, P < .0001), and Marx (QT -26.6%, P = .02; BPTB -32.0%, P = .0002) with no statistically significant differences between the 2 groups. Overall postoperative reoperation rate did not differ between groups (QT 12.8% vs BPTB 23.8%, P = .2). Revision ACL reconstruction rate did not differ between groups (QT 5.1% vs BPTB 7.5%, P = .6). Conclusions: Patients undergoing autograft ACLR with either BPTB or QT demonstrated significant subjective improvements in patient-reported outcomes from preoperative values and no statistically significant differences in outcomes between the groups. Complication and revision ACLR rates were similar between the 2 groups. Level of Evidence: III, retrospective cohort study.
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Non-steroidal anti-inflammatory drugs (NSAIDs) are widely used for pain management during recovery from orthopaedic surgery. NSAID use is associated with increased risk of bone healing complications but it is currently unknown whether NSAIDs increase the risk of developing an orthopaedic-device-related infection (ODRI) and/or affects its response to antibiotic therapy. The present study aimed to determine if administration of the NSAID carprofen [a preferential cyclooxygenase-2 (COX-2) inhibitor] negatively affected Staphylococcus epidermidis (S. epidermidis) bone infection, or its subsequent treatment with antibiotics, in a rodent ODRI model. Sterile or S. epidermidis-contaminated screws (~ 1.5 x 106 CFU) were implanted into the proximal tibia of skeletally mature female Wistar rats, in the absence or presence of daily carprofen administration. A subset of infected animals received antibiotics (rifampicin plus cefazolin) from day 7 to 21, to determine if carprofen affected antibiotic efficacy. Bone changes were monitored using in vivo µCT scanning and histological analysis. The risk of developing an infection with carprofen administration was assessed in separate animals at day 9 using a screw contaminated with 10² CFU S. epidermidis. Quantitative bacteriological analysis assessed bacterial load at euthanasia. In the 28-day antibiotic treatment study, carprofen reduced osteolysis but markedly diminished reparative bone formation, although total bacterial load was not affected at euthanasia. Antibiotic efficacy was negatively affected by carprofen (carprofen: 8/8 infected; control: 2/9 infected). Finally, carprofen increased bacterial load and diminished bone formation following reduced S. epidermidis inoculum (10² CFU) at day 9. This study suggests that NSAIDs with COX-2 selectivity reduce antibiotic efficacy and diminish reparative responses to S. epidermidis ODRI.
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Antibacterianos/farmacología , Antiinflamatorios no Esteroideos/farmacología , Carbazoles/farmacología , Infecciones Relacionadas con Catéteres/tratamiento farmacológico , Osteogénesis/efectos de los fármacos , Tibia/efectos de los fármacos , Animales , Inhibidores de la Ciclooxigenasa 2/farmacología , Femenino , Ortopedia/métodos , Ratas , Ratas Wistar , Infecciones Estafilocócicas/tratamiento farmacológico , Staphylococcus epidermidis/efectos de los fármacosRESUMEN
It is easy to capture and share clinical photographs and x-ray images using modern smartphones. This technology affords health-care providers the ability to rapidly collaborate and facilitate care for their patients. This improvement, however, has increased concerns regarding patient privacy and the safeguarding of protected health information. Health-care providers should understand the deidentification process for patient photographs because this process fundamentally changes the expectations and requirements for how providers are to handle this information. Properly deidentified patient photographs (and other data) are no longer considered identifiable protected health information and are not subject to the handling requirements mandated by the Health Insurance Portability and Accountability Act. This article addresses patient privacy concerns attendant to the acquisition, transmission, and sharing of clinical photographs among health-care providers. It provides guidelines for providers seeking to minimize the risk of noncompliance with privacy requirements as they adopt these new technologies into their practices.
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BACKGROUND: Coronary allograft vasculopathy (CAV) is the leading cause of death after pediatric heart transplantation from 1 year postoperation. Anecdotal evidence suggests a difference in the severity of disease between UK and North America. We performed a comparative study using intravascular ultrasound (IVUS). METHODS: Consecutive IVUS procedures from a single year were included from each center. Using standardized techniques, measurement of the vessel area, lumen area, and maximal intimamedial thickening (IMT) were performed with calculation of intimal index (II) for each slice. Mean II, mean IMT, and absolute maximum IMT were calculated along the left coronary artery for each patient. Transplant demographics and treatment details were included in the analysis. RESULTS: One hundred four patients were included between the 2 centers. Interobserver variability for IVUS analysis was excellent. Patients were aged mean 14.2 (SD 3.3) years at the time of the study and 9.2 (SD 6.0) years earlier post-transplant procedure. UK patients were older, at transplant for a shorter time, and demonstrated more severe CAV. Multiple regression analysis demonstrated the detrimental effect of donor age and time from transplant on CAV severity and benefits of sirolimus use. CONCLUSIONS: The data show more severe CAV in the UK cohort despite significantly shorter time post-transplant. Donor age and time post-transplant were associated with more severe CAV and sirolimus use was associated with a reduction in IMT. This study demonstrates a marked difference in the prevalence of CAV in children between UK and North America. The causes are likely to be multifactorial; however, younger donors and recipients have significantly less disease.
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Enfermedad de la Arteria Coronaria/epidemiología , Trasplante de Corazón/efectos adversos , Complicaciones Posoperatorias/epidemiología , Adolescente , Aloinjertos , Niño , Angiografía Coronaria/métodos , Enfermedad de la Arteria Coronaria/diagnóstico por imagen , Enfermedad de la Arteria Coronaria/patología , Estudios Transversales , Femenino , Rechazo de Injerto/prevención & control , Humanos , Inmunosupresores/uso terapéutico , Masculino , América del Norte/epidemiología , Complicaciones Posoperatorias/diagnóstico por imagen , Complicaciones Posoperatorias/patología , Prevalencia , Factores de Riesgo , Sirolimus/uso terapéutico , Ultrasonografía Intervencional , Reino Unido/epidemiologíaRESUMEN
Intravascular ultrasound (IVUS) has been routinely used in some centers to investigate cardiac allograft vasculopathy in pediatric heart transplant recipients. We present an alternative method using more sophisticated imaging software. This study presents a comparison of this method with an established standard method. All patients who had IVUS performed in 2014 were retrospectively evaluated. The standard technique consisted of analysis of 10 operator-selected segments along the vessel. Each study was re-evaluated using a longitudinal technique, taken at every third cardiac cycle, along the entire vessel. Semiautomatic edge detection software was used to detect vessel imaging planes. Measurements included outer and inner diameter, total and luminal area, maximal intimal thickness (MIT), and intimal index. Each IVUS was graded for severity using the Stanford classification. All results were given as mean ± standard deviation (SD). Groups were compared using Student t test. A P value <.05 was considered significant. There were 59 IVUS studies performed on 58 patients. There was no statistically significant difference between outer diameter, inner diameter, or total area. In the longitudinal group, there was a significantly smaller luminal area, higher MIT, and higher intimal index. Using the longitudinal technique, there was an increase in Stanford classification in 20 patients. The longitudinal technique appeared more sensitive in assessing the degree of cardiac allograft vasculopathy and may play a role in the increase in the degree of thickening seen. It may offer an alternative way of grading severity of cardiac allograft vasculopathy in pediatric heart transplant recipients.
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Trasplante de Corazón , Interpretación de Imagen Asistida por Computador , Complicaciones Posoperatorias/diagnóstico por imagen , Ultrasonografía Intervencional/métodos , Enfermedades Vasculares/diagnóstico por imagen , Aloinjertos , Niño , Preescolar , Femenino , Cardiopatías , Humanos , Lactante , Masculino , Estudios Retrospectivos , Programas Informáticos , Túnica Íntima/anatomía & histología , Túnica Íntima/diagnóstico por imagenRESUMEN
With the imbalance between donation rates and potential recipients growing, transplant programs are increasingly using non-ideal organs from so-called marginal donors. This is the first reported case of the intentional use of a donor heart with ALCAPA. The recipient was aged one yr with restrictive cardiomyopathy who had been supported with BiVAD for over six months. Function of the donor left ventricle was shown to be well preserved, with no obvious signs of ischemia, except for a fibrotic layer on the anterolateral papillary muscle of the mitral valve. To prevent coronary steal, the anomalous left coronary artery ostium from the MPA was oversewn prior to implantation. The transplanted heart spontaneously regained sinus rhythm immediately following cross-clamp release and showed good contractility from the first postoperative echocardiogram. The patient continues to do well 18 months post-transplant, with excellent function on echocardiography, and good flow on coronary angiography.
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Síndrome de Bland White Garland , Cardiomiopatía Restrictiva/cirugía , Trasplante de Corazón/métodos , Donantes de Tejidos , Humanos , Lactante , Masculino , Trasplante Homólogo/métodosRESUMEN
UNLABELLED: Oral squamous cell carcinoma (OSCC) is a cancer subtype that lacks validated prognostic and therapeutic biomarkers, and human papillomavirus status has not proven beneficial in predicting patient outcomes. A gene expression pathway analysis was conducted using OSCC patient specimens to identify molecular targets that may improve management of this disease. RNA was isolated from 19 OSCCs treated surgically at the University of Alabama at Birmingham (UAB; Birmingham, AL) and evaluated using the NanoString nCounter system. Results were confirmed using the oral cavity subdivision of the Head and Neck Squamous Cell Carcinoma Cancer (HNSCC) study generated by The Cancer Genome Atlas (TCGA) Research Network. Further characterization of the in vitro phenotype produced by Notch pathway activation in HNSCC cell lines included gene expression, proliferation, cell cycle, migration, invasion, and radiosensitivity. In both UAB and TCGA samples, Notch pathway upregulation was significantly correlated with patient mortality status and with expression of the proinvasive gene FGF1 In vitro Notch activation in HNSCC cells increased transcription of FGF1 and induced a marked increase in cell migration and invasion, which was fully abrogated by FGF1 knockdown. These results reveal that increased Notch pathway signaling plays a role in cancer progression and patient outcomes in OSCC. Accordingly, the Notch-FGF interaction should be further studied as a prognostic biomarker and potential therapeutic target for OSCC. IMPLICATIONS: Patients with squamous cell carcinoma of the oral cavity who succumb to their disease are more likely to have upregulated Notch signaling, which may mediate a more invasive phenotype through increased FGF1 transcription. Mol Cancer Res; 14(9); 883-91. ©2016 AACR.
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Carcinoma de Células Escamosas/metabolismo , Factor 1 de Crecimiento de Fibroblastos/metabolismo , Neoplasias de Cabeza y Cuello/metabolismo , Neoplasias de la Boca/metabolismo , Receptor Notch1/metabolismo , Carcinoma de Células Escamosas/genética , Carcinoma de Células Escamosas/mortalidad , Carcinoma de Células Escamosas/patología , Femenino , Neoplasias de Cabeza y Cuello/genética , Neoplasias de Cabeza y Cuello/mortalidad , Neoplasias de Cabeza y Cuello/patología , Humanos , Masculino , Persona de Mediana Edad , Neoplasias de la Boca/genética , Neoplasias de la Boca/mortalidad , Neoplasias de la Boca/patología , Invasividad Neoplásica , Pronóstico , Transducción de Señal , Carcinoma de Células Escamosas de Cabeza y Cuello , Análisis de SupervivenciaRESUMEN
Chronic allograft vasculopathy (CAV) limits the lifespan of pediatric heart transplant recipients. We investigated blood markers of inflammation, endothelial dysfunction, and damage to both the native and transplanted vasculature in children after heart transplantation. Serum samples were taken from pediatric heart transplant recipients for markers of inflammation and endothelial activation. The systemic vasculature was investigated using brachial artery flow-mediated dilatation and carotid artery intima-medial hyperplasia. CAV was investigated using intravascular ultrasound. Mean intima-media thickness (mIMT) > 0.5 mm was used to define significant CAV. Forty-eight children (25 male) aged 8-18 years were enrolled in the study. Patients were a median (interquartile range) 4.1 (2.2-8.7) years after transplant. Patients had increased levels of circulating IL6 (3.86 [2.84-4.95] vs. 1.66 [1.22-2.63] p < 0.0001), vascular cell adhesion molecule 1 (539 [451-621] vs. 402 [342-487] p < 0.001), intracellular adhesion molecule 1 305 (247-346) vs. 256 (224-294) p = 0.002 and thrombomodulin (7.1 [5.5-8.1] vs. 3.57 [3.03-4.71] p < 0.0001) and decreased levels of tumor necrosis factor-α, E selectin, and P selectin, compared with controls. The systemic vasculature was unaffected. Patients with severe CAV had raised serum von Willebrand factor and decreased serum thrombomodulin. Posttransplant thrombomodulin levels are elevated after transplant but significantly lower in those with mIMT > 0.5 mm. This suggests that subclinical inflammation is present and that natural anticoagulant/thrombomodulin activity is important after transplant.
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Citocinas/metabolismo , Endotelio Vascular/patología , Trasplante de Corazón/efectos adversos , Mediadores de Inflamación/metabolismo , Inflamación/patología , Complicaciones Posoperatorias , Enfermedades Vasculares/patología , Adolescente , Aloinjertos , Enfermedad Crónica , Endotelio Vascular/metabolismo , Femenino , Estudios de Seguimiento , Cardiopatías/complicaciones , Cardiopatías/cirugía , Humanos , Inflamación/etiología , Inflamación/metabolismo , Masculino , Pronóstico , Factores de Riesgo , Enfermedades Vasculares/etiología , Enfermedades Vasculares/metabolismoRESUMEN
Organ transplantation from ABO blood group-incompatible (ABOi) donors requires accurate detection, effective removal and subsequent surveillance of antidonor antibodies. Because ABH antigen subtypes are expressed differently in various cells and organs, measurement of antibodies specific for the antigen subtypes in the graft is essential. Erythrocyte agglutination, the century-old assay used clinically, does not discriminate subtype-specific ABO antibodies and provides limited information on antibody isotypes. We designed and created an ABO-glycan microarray and demonstrated the precise assessment of both the presence and, importantly, the absence of donor-specific antibodies in an international study of pediatric heart transplant patients. Specific IgM, IgG, and IgA isotype antibodies to nonself ABH subtypes were detected in control participants and recipients of ABO-compatible transplants. Conversely, in children who received ABOi transplants, antibodies specific for A subtype II and/or B subtype II antigens-the only ABH antigen subtypes expressed in heart tissue-were absent, demonstrating the fine specificity of B cell tolerance to donor/graft blood group antigens. In contrast to the hemagglutination assay, the ABO-glycan microarray allows detailed characterization of donor-specific antibodies necessary for effective transplant management, representing a major step forward in precise ABO antibody detection.
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Sistema del Grupo Sanguíneo ABO/inmunología , Incompatibilidad de Grupos Sanguíneos/inmunología , Trasplante de Corazón , Tolerancia Inmunológica/inmunología , Isoanticuerpos/inmunología , Polisacáridos/inmunología , Linfocitos B/inmunología , Estudios de Casos y Controles , Niño , Preescolar , Femenino , Estudios de Seguimiento , Supervivencia de Injerto/inmunología , Humanos , Lactante , Recién Nacido , Masculino , Análisis por Micromatrices , PronósticoRESUMEN
Blood group ABH(O) carbohydrate antigens are carried by precursor structures denoted type I-IV chains, creating unique antigen epitopes that may differ in expression between circulating erythrocytes and vascular endothelial cells. Characterization of such differences is invaluable in many clinical settings including transplantation. Monoclonal antibodies were generated and epitope specificities were characterized against chemically synthesized type I-IV ABH and related glycans. Antigen expression was detected on endomyocardial biopsies (n = 50) and spleen (n = 11) by immunohistochemical staining and on erythrocytes by flow cytometry. On vascular endothelial cells of heart and spleen, only type II-based ABH antigens were expressed; type III/IV structures were not detected. Type II-based ABH were expressed on erythrocytes of all blood groups. Group A1 and A2 erythrocytes additionally expressed type III/IV precursors, whereas group B and O erythrocytes did not. Intensity of A/B antigen expression differed among group A1 , A2 , A1 B, A2 B and B erythrocytes. On group A2 erythrocytes, type III H structures were largely un-glycosylated with the terminal "A" sugar α-GalNAc. Together, these studies define qualitative and quantitative differences in ABH antigen expression between erythrocytes and vascular tissues. These expression profiles have important implications that must be considered in clinical settings of ABO-incompatible transplantation when interpreting anti-ABO antibodies measured by hemagglutination assays with reagent erythrocytes.
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Sistema del Grupo Sanguíneo ABO/inmunología , Incompatibilidad de Grupos Sanguíneos/inmunología , Células Endoteliales/inmunología , Eritrocitos/inmunología , Trasplante de Órganos , Adolescente , Adulto , Anciano , Niño , Preescolar , Ensayo de Inmunoadsorción Enzimática , Femenino , Citometría de Flujo , Humanos , Inmunohistoquímica , Lactante , Masculino , Persona de Mediana Edad , Adulto JovenRESUMEN
OBJECTIVES: (1) Investigate overall survival (OS) and disease-free survival (DFS) for high-risk head and neck basal cell carcinoma (HNBCC) requiring large extirpation with free-flap reconstruction. (2) Determine impact of prognostic features-tumor size, subsite, number of high-risk features, perineural invasion, and bony invasion-on high-risk HNBCC survival. (3) Determine survival benefit of adjuvant radiation for high-risk HNBCC. STUDY DESIGN: Case series with chart review (2002-2013). SETTING: Academic tertiary care center. SUBJECTS AND METHODS: Consecutive head and neck patients (N = 431) required free-flap reconstruction following tumor extirpation, 38 for aggressive HNBCC. All cases were high risk. DFS and OS were examined using Kaplan-Meier analysis. Prognostic variables and adjuvant radiation were analyzed utilizing Student's t test for continuous variables and Fisher's exact testing for categorical dependent variables. Complications were reported. RESULTS: Mean tumor diameter was 5.17 cm (range, 1.2-15.0 cm). Mean follow-up was 19.9 months. Overall 2-year survival was 80%, falling to 66% at 5 years. Two-year disease-free survival was 72%. Six patients recurred (n = 5 local, 1 distant). Adjuvant radiotherapy improved DFS (P < .01) but not OS (P = .66). Tumors >2.5 cm did not affect OS (P = .61), regardless of subsite. Bone involvement (44.7% cases) did not affect DFS (P = .39) or OS (P = .18). CONCLUSIONS: Larger HNBCC warranting free tissue transfer do not confer worse outcomes, independent of subsite. Adjuvant radiotherapy does not improve OS but significantly affected DFS, allowing for 13.7 additional months of DFS. Bone involvement does not influence DFS or OS and should not preclude surgery, even in advanced cases requiring free-flap reconstruction.
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Carcinoma Basocelular/mortalidad , Carcinoma Basocelular/cirugía , Neoplasias de Cabeza y Cuello/mortalidad , Neoplasias de Cabeza y Cuello/cirugía , Neoplasias Cutáneas/mortalidad , Neoplasias Cutáneas/cirugía , Adulto , Anciano , Anciano de 80 o más Años , Carcinoma Basocelular/patología , Terapia Combinada , Supervivencia sin Enfermedad , Femenino , Neoplasias de Cabeza y Cuello/patología , Humanos , Estimación de Kaplan-Meier , Masculino , Persona de Mediana Edad , Invasividad Neoplásica , Pronóstico , Radioterapia Adyuvante , Medición de Riesgo , Neoplasias Cutáneas/patologíaRESUMEN
Pompe disease (PD) is a severe life-threatening disease in which enzyme replacement therapy (ERT) with alglucosidase alfa is the only treatment available. Recently it has been shown that antibody formation may have a significant adverse effect on response to ERT. We report a cross-reactive immunologic material (CRIM)-positive PD infant who developed severe infusion-associated reactions (IARs) after 15 uneventful months of ERT. We successfully got the child to tolerate the ERT by a desensitisation protocol. We diluted the total amount of standard alglucosidase alfa infusion (20 mg/kg/dose) to 1/100 (0.2 mg/kg/dose). The original infusion rates were maintained. We doubled this dose every week. No premedication was given. In 8 weeks, we reached the standard dose without any IAR. No further reactions have been observed during 6 months of follow-up. Importantly, clinical deterioration that was observed during the period of reduced enzyme delivery has almost completely reversed. We conclude that this protocol was effective in our patient, while being safe and easy to follow, and may be suitable in selected cases.
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OBJECTIVES/HYPOTHESIS: To evaluate bone invasion, survival, and expression of bone morphogenetic protein-6 (BMP-6) in oral cavity cancer in the context of known biomarkers indicative of poor prognosis. STUDY DESIGN: Molecular expression study combined with retrospective chart review of corresponding patients at a tertiary care center. METHODS: Between 2000 and 2009, a total of 197 patients underwent resection for oral cavity squamous cell carcinoma. Of these, 30 pathologic specimens were chosen for further molecular analysis. These 30 patients were separated into three groups (10 per group) based on American Joint Committee on Cancer (AJCC) staging and staging based on size alone (TAJCC /SIZE ). The first group consisted of tumors staged as T2 /2 based on size less than 4 cm and that had no evidence of bone invasion. The T2 /4 group consisted of tumors that were upstaged from T2 based on bone invasion. The T4 /4 group consisted of tumors that were large with and without bone invasion. The expression of extracellular matrix metalloproteinase inducer (EMMPRIN), BMP-6, and epidermal growth factor receptor (EGFR) was examined using immunohistochemistry techniques. Patient demographics, tumor characteristics, survival, and recurrence were compared. RESULTS: Average follow-up was 21 months. Expression of BMP-6 was significantly higher in the T2 /4 cohort (tumor less than 4 cm with bony invasion) than the larger tumors without bone invasion (T4 /4 cohort, P = .05). In addition, increased BMP-6 expression correlated with aggressive behavior in the smaller tumors. Furthermore, increased EGFR expression positively correlated with increased levels of BMP-6. CONCLUSIONS: Increased expression of BMP-6 in oral cavity cancer may affect bone invasion.
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Proteína Morfogenética Ósea 6/biosíntesis , Neoplasias Óseas/metabolismo , Mucosa Bucal/metabolismo , Neoplasias de la Boca/metabolismo , Invasividad Neoplásica , Adulto , Anciano , Biomarcadores de Tumor/biosíntesis , Neoplasias Óseas/patología , Carcinoma de Células Escamosas/patología , Progresión de la Enfermedad , Femenino , Estudios de Seguimiento , Humanos , Inmunohistoquímica , Masculino , Persona de Mediana Edad , Mucosa Bucal/patología , Neoplasias de la Boca/patología , Estadificación de Neoplasias , Pronóstico , Estudios RetrospectivosRESUMEN
OBJECTIVES: A decade ago, the first series of ABO-incompatible heart transplants was published, with surprising and extremely promising results; drastically reduced waiting list mortalities of infants listed for heart transplantation. Essential to the procedure was the process of plasma exchange transfusion, required to reduce isohaemagglutinin titres and facilitate the crossing of ABO blood group boundaries. Since then, Great Ormond Street Hospital, London has offered ABO-incompatible heart transplants to infants who potentially would die waiting for a suitable organ. We report the results of a decade of evolving plasma exchange experience and its impact upon patient selection. METHODS: A retrospective analysis was undertaken of all elective ABO-incompatible heart transplants at Great Ormond Street Children's Hospital from January 2001 until January 2011. Data were sought on underlying conditions and demographics of the patients, the isohaemagglutinin titre before and after plasma exchange and survival figures to date. RESULTS: Twenty-one patients underwent ABO-incompatible heart transplantation, ranging from 3 to 44 months, with preoperative isohaemagglutinin titres ranging from 0 to 1:32. All patients underwent a "3 times" plasma exchange before transplantation, requiring exchange volumes of up to 3209 mL. Postoperative isohaemagglutinin titres ranged from 0 to 1:16. One patient died of causes unrelated to organ rejection. CONCLUSIONS: Our data showed that eight patients (38.1%) were older than the previously suggested 12-month cut-off age. Using a combination of adult reservoir/paediatric oxygenator and extracorporeal circuit, ABO-incompatible plasma exchange transfusions can be undertaken safely using a simplified '3 times' method, reducing the circulating levels of isohaemagglutinins whilst providing minimal circuit size. This allows ABO-incompatible heart transplantation in a broader patient population than previously reported.
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Sistema del Grupo Sanguíneo ABO/inmunología , Incompatibilidad de Grupos Sanguíneos/inmunología , Trasplante de Corazón/inmunología , Intercambio Plasmático/métodos , Adolescente , Adulto , Niño , Preescolar , Femenino , Trasplante de Corazón/efectos adversos , Trasplante de Corazón/métodos , Histocompatibilidad , Humanos , Masculino , Intercambio Plasmático/efectos adversos , Estudios Retrospectivos , Tasa de Supervivencia , Adulto JovenRESUMEN
Eye movement analysis is gaining popularity as a tool for evaluation of visual displays and interfaces. However, the existing methods and tools for analyzing eye movements and scanpaths are limited in terms of the tasks they can support and effectiveness for large data and data with high variation. We have performed an extensive empirical evaluation of a broad range of visual analytics methods used in analysis of geographic movement data. The methods have been tested for the applicability to eye tracking data and the capability to extract useful knowledge about users' viewing behaviors. This allowed us to select the suitable methods and match them to possible analysis tasks they can support. The paper describes how the methods work in application to eye tracking data and provides guidelines for method selection depending on the analysis tasks.
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Gráficos por Computador , Movimientos Oculares/fisiología , Fijación Ocular/fisiología , Procesamiento de Imagen Asistido por Computador/métodos , Algoritmos , Análisis por Conglomerados , HumanosRESUMEN
In this review we have looked at indications for cardiac transplantation in congenital heart disease. An outline of the general principles of the use of transplant as a management strategy both as a first line treatment and following other surgical interventions is discussed. We explore the importance of the timing of patient referral and the evaluations undertaken, and how the results of these may vary between patients with congenital heart disease and patients with other causes of end-stage heart failure. The potential complications associated with patients with congenital heart disease need to be both anticipated and managed appropriately by an experienced team. Timing of transplantation in congenital heart disease is difficult to standardize as the group of patients is heterogeneous. We discuss the role and limitations of investigations such as BNP, 6 minute walk, metabolic exercise testing and self estimated physical functioning. We also discuss the suitability for listing. It is clear that congenital heart patients should not be considered to be at uniform high risk of death at transplant. Morbidity varies greatly in the congenital patient population with the failing Fontan circulation having a far higher risk than a failing Mustard circulation. However the underlying issue of imbalance between donor organ supply and demand needs to be addressed as transplant teams are finding themselves in the increasingly difficult situation of supporting growing numbers of patients with a diverse range of pathologies with declining numbers of donor organs.
Asunto(s)
Cardiopatías/congénito , Cardiopatías/cirugía , Trasplante de Corazón , Adolescente , Factores de Edad , Niño , Preescolar , Cardiopatías Congénitas/inmunología , Cardiopatías Congénitas/cirugía , Insuficiencia Cardíaca/cirugía , Pruebas de Función Cardíaca , Trasplante de Corazón/efectos adversos , Trasplante de Corazón/inmunología , Humanos , Lactante , Anamnesis , Péptido Natriurético Encefálico/análisis , Cuidados Preoperatorios/métodos , Respiración Artificial , Donantes de Tejidos/provisión & distribución , Adulto JovenRESUMEN
Malonyl coenzyme A (CoA) decarboxylase (EC 4.1.1.9, MCD) deficiency, or malonic aciduria, is a rare inborn error of metabolism characterised by a variable phenotype of developmental delay, seizures, cardiomyopathy and acidosis. There is no consensus for dietary treatment in this condition. This case describes the effect of a long-chain triglyceride (LCT)-restricted/medium-chain triglyceride (MCT)-supplemented diet upon the progress of an affected child. A full-term Asian girl of birth weight 3590 g was screened for malonic aciduria after birth due to a positive family history. She had elevated urine malonic and methylmalonic acids and was presumably homozygous for a deleterious mutation in the MLYCD gene. Her echocardiography showed mild cardiomyopathy at 0.5 months of age, but heart function was good. She was treated with carnitine 100 mg/kg per day and continued a high-energy formula feed, as her growth was slow. At 3 months of age, echocardiography showed deteriorating cardiac function with a fractional shortening of 18%. She started an angiotensin-converting enzyme (ACE) inhibitor (Captopril). Over the next few months, her diet was altered to comprise 1.9% energy from LCT, 25% from MCT and the remainder carbohydrate. Cardiac function improved and was optimal at 23 months of age, with a fractional shortening of 28% and good systolic function. During a period of low MCT intake, her cardiac function was noted to deteriorate. This reversed and stabilised following reinstatement of the diet. This case of malonic aciduria with cardiomyopathy demonstrates improvement in cardiac function attributable to LCT-restricted/MCT-supplemented diet.
Asunto(s)
Carboxiliasas/deficiencia , Cardiomiopatías/dietoterapia , Suplementos Dietéticos , Errores Innatos del Metabolismo/dietoterapia , Triglicéridos/administración & dosificación , Inhibidores de la Enzima Convertidora de Angiotensina/uso terapéutico , Captopril , Carboxiliasas/genética , Cardiomiopatías/diagnóstico , Cardiomiopatías/tratamiento farmacológico , Cardiomiopatías/enzimología , Cardiomiopatías/genética , Carnitina/uso terapéutico , Preescolar , Terapia Combinada , Femenino , Predisposición Genética a la Enfermedad , Humanos , Lactante , Fórmulas Infantiles , Fenómenos Fisiológicos Nutricionales del Lactante , Recién Nacido , Malonil Coenzima A/genética , Errores Innatos del Metabolismo/diagnóstico , Errores Innatos del Metabolismo/tratamiento farmacológico , Errores Innatos del Metabolismo/enzimología , Errores Innatos del Metabolismo/genética , Ácido Metilmalónico , Mutación , Estado Nutricional , Fenotipo , Resultado del TratamientoRESUMEN
The congenital disorders of glycosylation (CDG) are a recently described group of inherited multisystem disorders characterized by defects predominantly of N- and O-glycosylation of proteins. Cardiomyopathy in CDG has previously been described in several subtypes; it is usually associated with high morbidity and mortality and the majority of cases present in the first 2 years of life. This is the first case with presentation in late childhood and the article reviews current literature. An 11-year-old female with a background of learning difficulties presented in cardiac failure secondary to severe dilated cardiomyopathy. Prior to the diagnosis of CDG, her condition deteriorated; she required mechanical support (Excor Berlin Heart) and was listed for cardiac transplant. Investigations included screening for glycosylation disorders, and isoelectric focusing of transferrin revealed an abnormal type 1 pattern. Analysis of phosphomannomutase and phosphomannose isomerase showed normal enzyme activity, excluding PMM2 (CDG Ia) and MPI (CDG Ib). Lipid-linked oligosaccharide and mutational studies have not yet defined the defect. Despite aggressive therapy there were persistent difficulties achieving adequate anticoagulation and she developed multiple life-threatening thrombotic complications. She was removed from the transplant list and died from overwhelming sepsis 5 weeks following admission. This case emphasizes the need to screen all children with an undiagnosed cardiomyopathy for CDG, regardless of age, and where possible to exclude CDG before the use of cardiac bridging devices. It highlights the many practical and ethical challenges that may be encountered where clinical knowledge and experience are still evolving.