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1.
Immunotherapy ; 11(7): 591-598, 2019 05.
Artículo en Inglés | MEDLINE | ID: mdl-30943861

RESUMEN

The most recent progress in the oncology field has led to a paradigm shift in the management of cancer with the tsunami of immune checkpoint inhibitors that are associated with a particular pattern of immunological adverse events. This is a case of a 54-year-old woman that demonstrated a granulomatous reaction in the same dermatomal distribution of a previously treated shingles infection during treatment with an anti-programmed death 1 agent (pembrolizumab) for a newly diagnosed stage IV Hodgkin lymphoma. The purpose of this case is to increase the awareness of oncologists dealing with a new pattern of side effects taking into account the patient's background and recent exposures to latent viruses such as herpes zoster to prevent unnecessary diagnostic and therapeutic measures.

2.
Eur Radiol ; 29(11): 5731-5741, 2019 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-30972547

RESUMEN

PURPOSE: To evaluate whether pancreatic parenchymal abnormalities on magnetic resonance imaging (MRI) are associated with pancreatic intraepithelial neoplasia (PanIN) on histology. MATERIALS AND METHODS: Retrospective study approved by institutional review board. One hundred patients (48 men, 52 women; mean age, 53.2 ± 16.29 [SD]) underwent MRI before pancreatectomy for pancreatic tumors analyzed by two independent observers blinded to histopathological results for the presence of non-communicating microcysts and pancreatic atrophy (global or focal) beside tumors. MRI findings were compared to histopathological findings of resected specimens. Interobserver agreement was calculated. The association between parenchymal abnormalities and presence of PanIN was assessed by uni- and multivariate analyses. RESULTS: PanIN was present in 65/100 patients (65%). The presence of microcysts on MRI had a sensitivity of 52.3% (34/65 [95%CI, 51.92-52.70%]), a specificity of 77.1% (27/35 [95%CI, 76.70-77.59]), and accuracy of 61% (61/100 95%CI [50.7-70.6]) for the diagnosis of PanIN while global atrophy had a sensitivity of 24.6% (16/6 [95%CI, 24.28-24.95]) and a specificity of 97.1% (34/35 [95%CI, 96.97-97.32%]). In multivariate analysis, the presence of microcysts (OR, 3.37 [95%CI, 1.3-8.76]) (p = 0.0127) and global atrophy (OR, 9.79 [95%CI, 1.21-79.129]) (p = 0.0324) were identified as independent predictors of the presence of PanIN. The combination of these two findings was observed in 10/65 PanIN patients and not in patients without PanIN (p = 0.013 with an OR of infinity [95%CI, 1.3-infinity]) and was not discriminant for PanIN-3 and lower grade (p = 0.22). Interobserver agreement for the presence of microcysts was excellent (kappa = 0.92), and for the presence of global atrophy, it was good (kappa = 0.73). CONCLUSION: The presence of non-communicating microcysts on pre-operative MRI can be a significant predictor of PanIN in patients with pancreatic tumors. KEY POINTS: • In patients with pancreatic tumors who had partial pancreatectomy, MR non-communicating pancreatic microcysts have a 52.3% sensitivity, a 77.1% specificity, and a 61% accuracy for the presence of PanIN with univariate and with an odds ratio of 3.37 with multivariate analyses. • The association of global atrophy and non-communicating microcysts increases the predictive risk of PanIN.


Asunto(s)
Quiste Pancreático/patología , Neoplasias Pancreáticas/patología , Adulto , Anciano , Atrofia/patología , Carcinoma in Situ/patología , Carcinoma in Situ/cirugía , Carcinoma Ductal Pancreático/patología , Carcinoma Ductal Pancreático/cirugía , Detección Precóz del Cáncer , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Variaciones Dependientes del Observador , Páncreas/patología , Pancreatectomía , Quiste Pancreático/cirugía , Neoplasias Pancreáticas/cirugía , Pronóstico , Estudios Retrospectivos
4.
Tumori ; 105(5): 427-433, 2019 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-29714653

RESUMEN

INTRODUCTION: Brain metastases (BM) are rare in colorectal cancer (CRC) and are associated with a dismal prognosis. This work aims to report the rate of BM in CRC patients treated in a single institution, along with survival and prognostic factors. METHODS: Medical charts for patients with histologically proven CRC were retrospectively reviewed. RESULTS: A total of 538 patients were identified, of whom 33% developed any metastatic disease and 4.4% presented BM. Lung was the most frequently associated metastatic site (in 68% of the cases). The only factor independently associated with BM development was the presence of metastatic disease at the time of initial presentation. The median duration from initial diagnosis to BM development was 38.6 months (SD 29.1 months). Median survival after BM development was 62 days (95% confidence interval [CI] 56-68). Patients diagnosed with BM within 1 year of cancer diagnosis responded significantly better to treatment than those who acquired BM later, with a median survival after BM diagnosis of 261 days versus 61 days, respectively (p = .002). Patients with BM who received antiangiogenic therapy had an improved median survival compared to those who did not (151 days vs 59 days, p = 0.02; hazard ratio for death 0.29 [95% CI 0.09-0.94]). CONCLUSION: CRC with BM is an aggressive disease resistant to standard treatment and is associated with poor outcomes. Adding antiangiogenic therapy might be of value for those patients. Patients with BM developing early in the disease course might respond better to treatment.


Asunto(s)
Neoplasias Encefálicas/epidemiología , Neoplasias Colorrectales/epidemiología , Metástasis de la Neoplasia , Adulto , Anciano , Neoplasias Encefálicas/patología , Neoplasias Encefálicas/secundario , Neoplasias Colorrectales/patología , Femenino , Humanos , Estimación de Kaplan-Meier , Masculino , Persona de Mediana Edad , Pronóstico , Modelos de Riesgos Proporcionales , Estudios Retrospectivos
5.
Expert Rev Anticancer Ther ; 18(12): 1241-1248, 2018 12.
Artículo en Inglés | MEDLINE | ID: mdl-30220224

RESUMEN

INTRODUCTION: Health-related quality of life (HRQoL) is a patient-reported outcome that addresses patients' perceptions of symptoms across physical, emotional, cognitive and social domains. As HRQoL is currently rarely measured outside clinical trials in oncology, it must be inferred from patients' everyday performance during treatment. To gain insight into the HRQoL of advanced STS patients receiving palliative treatment in clinical practice, three case studies of patients treated with trabectedin are examined. Areas covered: The patient in Case 1 has maintained complete remission for more than 8 years after receiving nine cycles of second-line trabectedin followed by secondary surgery for recurrent myxoid liposarcoma, and was able to resume normal activities during trabectedin treatment. Case 2 describes 10 years' follow-up of a patient with myxoid liposarcoma who remains well after many lines of chemotherapy including extended use of trabectedin in the second line. The third case illustrates the feasibility of extending survival time in an elderly patient with metastatic leiomyosarcoma who was able to maintain a busy and active lifestyle while receiving second-line trabectedin. Expert commentary: Owing to its relatively benign safety profile, trabectedin frequently permits prolonged therapy and is generally well tolerated, often allowing patients to carry on with normal daily activities.


Asunto(s)
Calidad de Vida , Sarcoma/tratamiento farmacológico , Trabectedina/administración & dosificación , Adulto , Anciano , Antineoplásicos Alquilantes/administración & dosificación , Femenino , Humanos , Leiomiosarcoma/tratamiento farmacológico , Leiomiosarcoma/patología , Liposarcoma Mixoide/tratamiento farmacológico , Liposarcoma Mixoide/patología , Masculino , Medición de Resultados Informados por el Paciente , Sarcoma/patología , Adulto Joven
6.
Ann Saudi Med ; 38(4): 251-259, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-30078023

RESUMEN

BACKGROUND: The few studies of the molecular biology of colorectal cancer (CRC) in Middle Eastern populations have included only small samples of patients. OBJECTIVE: Evaluate the frequency and prognostic effect of RAS, BRAF, PIK3CA, PTEN, and EGFR somatic mutations as well as mismatch repair (MMR) deficiency in Lebanese Middle Eastern patients. DESIGN: Retrospective single-center descriptive study. SETTING: Lebanese Middle Eastern patients in a tertiary medical cen.ter. METHODS: We included all patients diagnosed with CRC between January 2010 and December 2015, in whom RAS mutational status and the expression of MLH1 and MSH2 proteins were available. MAIN OUTCOME MEASURES: Genetic mutations detected by direct sequencing while MMR protein expression was evaluated by immunohistochemistry. SAMPLE SIZE: 645 patients. RESULTS: RAS, BRAF, EGFR, PI3KCA, and PTEN mutation rates were 38.5%,12.9%, 0%, 11.1% and 0% respectively. The MMR deficiency rate was 20.6%. No factor was associated with RAS mutation whereas MMR-deficient tumors were less likely to be metastatic at diagnosis. Among patients with wild-type RAS females fared better than males (median overall survival [OS]=1734 vs 1079 days respectively, P=.015) even after adjustment for confounding factors by Cox regression analy.sis. This finding was not reproduced in the RAS-mutated group. The median OS of patients with MMR-deficient tumors was not reached, while the median OS was 2475 days in patients who had maintained expression of both MLH1 and MSH2. CONCLUSION: The RAS mutation rate was similar to Western and East Asian countries, but not for the BRAF mutation and MMR deficiency. We also found a prognostic effect for sex in the RAS wild-type group, a finding worthy of further exploration. LIMITATIONS: Retrospective, single center and small sample size. Expression of MSH6 and PMS2 not analyzed. CONFLICT OF INTEREST: None.


Asunto(s)
Biomarcadores de Tumor/genética , Neoplasias Colorrectales/genética , Proteínas Nucleares/genética , Biomarcadores de Tumor/metabolismo , Neoplasias Colorrectales/diagnóstico , Neoplasias Colorrectales/epidemiología , Femenino , Humanos , Inmunohistoquímica , Incidencia , Líbano/epidemiología , Masculino , Persona de Mediana Edad , Regiones Promotoras Genéticas , Estudios Retrospectivos
7.
Cancer Immunol Immunother ; 67(10): 1571-1578, 2018 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-30056599

RESUMEN

INTRODUCTION: The utility of immunotherapy in elderly melanoma patients is debated. We aimed in this study to evaluate the efficacy and tolerability of immunotherapy among elderly patients. METHOD: This is a retrospective single-institution cohort study. Patients aged 75 years and above who had been treated with nivolumab, pembrolizumab or ipilimumab for advanced or metastatic melanoma, were included. Patients and disease characteristics were collected using electronic medical records. Objective response was determined according to the immune-related response criteria. Drug-related toxicities (DRT) were graded according to the CTCAE v4.03. RESULTS: 99 patients were included with a mean age of 80 years (SD = 4). One patient received nivolumab and ipilimumab combination, but died because of drug-related diverticulitis. Median PFS on pembrolizumab, nivolumab or ipilimumab were equal to 11.9 (95% CI 5.4-18.4), 1.4 (95% CI 0.01-2.8), and 2.8 months (95% CI 2.6-3), respectively, while objective response rates were equal to 51.6, 12.5, and 17.3%, respectively. Median OS was not reached in patients who received only pembrolizumab, 8.7 months in the ipilimumab only group, and 23 months in patients receiving several immune therapies sequentially. Pembrolizumab, nivolumab, and ipilimumab grade 3-4 DRT rates were equal to 24.2, 62.5, and 32.7% respectively, while discontinuation rates were equal to 43.5, 62.5, and 28.8%, respectively. CONCLUSIONS: Our study suggests that immunotherapy is effective and well tolerated in the elderly. The PFS on pembrolizumab was greater than expected, a finding that needs to be investigated further.


Asunto(s)
Antineoplásicos Inmunológicos/uso terapéutico , Inmunoterapia , Melanoma/tratamiento farmacológico , Receptor de Muerte Celular Programada 1/antagonistas & inhibidores , Anciano , Anciano de 80 o más Años , Anticuerpos Monoclonales/uso terapéutico , Anticuerpos Monoclonales Humanizados/uso terapéutico , Femenino , Humanos , Ipilimumab/uso terapéutico , Masculino , Melanoma/inmunología , Nivolumab , Pronóstico , Estudios Retrospectivos , Tasa de Supervivencia
9.
J Gastrointest Cancer ; 49(1): 21-24, 2018 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-27975180

RESUMEN

BACKGROUND: The epidemiology of gastric cancer in the Middle East has never been described. Therefore, the characteristics of gastric cancer in the Lebanese population will be reported in this study. PATIENTS AND METHODS: A retrospective study that included all patients diagnosed with gastric cancer at Hotel Dieu de France University Hospital in Beirut, Lebanon between 2010 and 2016 was conducted. All eligible patients were reviewed for demographic and epidemiologic analysis. RESULTS: The study included 123 patients diagnosed with gastric cancer. The median age at diagnosis was 59 years (range 15-72 years), and the median ECOG performance status was 2 (range 1-4). Most patients were metastatic at diagnosis (52.8%), and diffuse pathology type was predominant (39%). HER2 was positive in 16.2% and correlated with the occurrence of hepatic metastasis (p = 0.048). The HER2 status did not differ significantly between the histological subtypes, the site of the tumor, the stage of the gastric cancer at diagnosis, and the recurrence of cancer (p > 0.05). CONCLUSION: Gastric cancer in the Lebanese population is characterized by aggressive features such as advanced stage at diagnosis, high prevalence of diffuse type histology, and HER2 positivity.


Asunto(s)
Neoplasias Gástricas , Adolescente , Adulto , Anciano , Femenino , Humanos , Líbano , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Adulto Joven
11.
Endocr Pract ; 23(4): 391-398, 2017 Apr 02.
Artículo en Inglés | MEDLINE | ID: mdl-28095043

RESUMEN

OBJECTIVE: The aims of our study were to establish reference values for insulin-like growth factor 1 (IGF-1) in Lebanese schoolchildren and to evaluate the relationship between IGF-1 and age, sex, body mass index (BMI), vitamin D, and ferritin. METHODS: This cross-sectional study included 952 Lebanese schoolchildren (495 boys and 457 girls) aged 8 to 18 years. Blood samples were taken from children attending 10 schools with different socio-economic status (SES). Chemiluminescent immunoassays were used for IGF-1, 25 hydroxyvitamin D (25(OH)D), testosterone, and ferritin measurements. RESULTS: The mean age was 13.46 ± 2.80 with no significant difference according to sex. IGF-1 was correlated with age in both sexes (P<.0001); it was higher in girls compared to boys (P = .007) and peaked at the ages of 14 and 12 for boys and girls, respectively. For each age group, the median IGF-1 value was higher compared to the values provided by the kit. IGF-1 was significantly correlated with BMI in boys (r = 0.16, P<.0001) but not girls. In both sexes, IGF-1 was inversely correlated with 25(OH)D and ferritin values. After adjustment for age, BMI, and height, the correlation between IGF-1 and 25(OH)D disappeared, whereas the relationship with ferritin persisted (P<.001 for boys, P = .002 for girls). For both sexes, multivariate regression analysis revealed independent associations between IGF-1 and height, Tanner stage, and ferritin. An association was also noted in boys for BMI and testosterone. CONCLUSION: Our results showed higher and earlier peak IGF-1 values in the pediatric Lebanese population compared to western populations. In addition, an independent inverse relationship was observed between IGF-1 and ferritin. Further studies are needed to identify the reason(s) underlying these results. ABBREVIATIONS: BMI = body mass index CRP = C-reactive protein CV = coefficient of variation GH = growth hormone IGF-1 = insulin-like growth factor 1 25(OH)D = 25 hydroxyvitamin D SES = socio-economic status TSH = thyroid-stimulating hormone.


Asunto(s)
Ferritinas/sangre , Factor I del Crecimiento Similar a la Insulina/metabolismo , Estudiantes , Vitamina D/sangre , Adolescente , Factores de Edad , Índice de Masa Corporal , Niño , Estudios Transversales , Femenino , Humanos , Líbano/epidemiología , Masculino , Instituciones Académicas/estadística & datos numéricos , Factores Sexuales , Estudiantes/estadística & datos numéricos
12.
Support Care Cancer ; 25(2): 599-605, 2017 02.
Artículo en Inglés | MEDLINE | ID: mdl-27738795

RESUMEN

INTRODUCTION: One major health care issue encountered in elderly cancer patients is the alteration of the quality of life. The purpose of our study is to evaluate the administration of chemotherapy in the last month of life (CLML) and to evaluate the impact of the palliative care consult (PCC) in the elderly patients. METHODS: We conducted a retrospective observational study that included elderly patients diagnosed with an end-stage cancer and who were deceased between the 1st of January 2012 and the 31st of December 2015. Patient medical records were reviewed for patients' characteristics and management during the last month of life. RESULTS: This study enrolled 231 patients that fulfilled the eligibility criteria. CLML was administered in 91 patients (39.4 %) among which 43 patients (47.3 %) had their treatment within the last 2 weeks of life. Seventy-seven patients (33.3 %) had a palliative care consult (PCC) with a median duration of follow up of 13 days (range 2-56 days). Overall, PCC failed to decrease CLML administration, the duration of hospitalization, and ICU admissions. However, CLML administration decreased by 69 % among patients that had their PCC before receiving treatment (OR = 0.31; 95 % CI 0.15-0.63). PCC also led to a change in the pattern of treatment administered in the last month of life with less cytotoxic therapy (OR = 0.27 CI 95 % 0.09-0.9, p = 0.02) and higher rates of oral agents being prescribed (OR = 3.8; 95 % CI 1.3-11.3, p = 0.014). CONCLUSION: Our elderly patients seem to receive aggressive management similar to the general oncology population. Early PCC was shown throughout our results to decrease the aggressiveness of cancer treatment in elderly patients which seems to improve the quality of care of our patients.


Asunto(s)
Neoplasias/psicología , Cuidados Paliativos/métodos , Calidad de Vida/psicología , Cuidado Terminal/métodos , Anciano , Femenino , Humanos , Masculino , Neoplasias/terapia , Estudios Retrospectivos
13.
J Geriatr Oncol ; 8(2): 128-132, 2017 03.
Artículo en Inglés | MEDLINE | ID: mdl-27964884

RESUMEN

OBJECTIVES: Comprehensive geriatric assessment (CGA) is a complex and interdisciplinary approach to evaluate the health status of elderly patients. The Karnofsky Performance Scale (KPS) and Physical Performance Test (PPT) are less time-consuming tools that measure functional status. This study was designed to assess and compare abridged geriatric assessment (GA), KPS and PPT as predictive tools of mortality in elderly patients with cancer. MATERIALS AND METHODS: This prospective interventional study included all individuals aged >70years who were diagnosed with cancer during the study period. Subjects were interviewed directly using a procedure that included a clinical test and a questionnaire composed of the KPS, PPT and abridged GCA. Overall survival (OS) was the primary endpoint. The log rank test was used to compare survival curves, and Cox's regression model (forward procedure) was used for multivariate survival analysis. RESULTS: One hundred patients were included in this study. Abridged GA was the only tool found to predict mortality [median OS for unfit patients (at least two impairments) 467days vs 1030days for fit patients; p=0.04]. Patients defined as fit by mean PPT score (>20) had worse median OS (560 vs 721days); however, this difference was not significant (p=0.488 on log rank). Although median OS did not differ significantly between patients with low (≤80) and high (>80) KPS scores (467 and 795days, respectively; p=0.09), survival curves diverged after nearly 120days of follow-up. Visual and hearing impairments were the only components of abridged GA of prognostic value. CONCLUSION: Neither KPS nor PPT were shown to predict mortality in elderly patients with cancer whereas abridged GA was predictive. This study suggests a possible role for visual and hearing assessment as screening for patients requiring CGA.


Asunto(s)
Evaluación Geriátrica , Estado de Ejecución de Karnofsky , Neoplasias/mortalidad , Valor Predictivo de las Pruebas , Actividades Cotidianas , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Estimación de Kaplan-Meier , Masculino , Modelos de Riesgos Proporcionales , Estudios Prospectivos , Encuestas y Cuestionarios
14.
World J Gastroenterol ; 22(46): 10124-10130, 2016 Dec 14.
Artículo en Inglés | MEDLINE | ID: mdl-28028360

RESUMEN

Pancreatic cancer is one of the deadliest cancers, ranking fourth among cancer-related deaths. Despite all the major molecular advances and treatment breakthroughs, mainly targeted therapies, the cornerstone treatment of metastatic pancreatic cancer (mPC) remains cytotoxic chemotherapy. In 2016, more than 40 years after the introduction of gemcitabine in the management of mPC, the best choice for first-line treatment has not yet been fully elucidated. Two main strategies have been adopted to enhance treatment efficacy. The first strategy is based on combining non-cross resistant drugs, while the second option includes the development of newer generations of chemotherapy. More recently, two new regimens, FOLFIRINOX and gemcitabine/nab-paclitaxel (GNP), have both been shown to improve overall survival in comparison with gemcitabine alone, at the cost of increased toxicity. Therefore, the best choice for first line therapy is a matter of debate. For some authors, FOLFIRINOX should be the first choice in patients with an Eastern Cooperative Oncology Group score (0-1) given its lower hazard ratio. However, others do not share this opinion. In this paper, we review the main comparison points between FOLFIRINOX and GNP. We analyze the two pivotal trials to determine the similarities and differences in study design. In addition, we compare the toxicity profile of the two regimens as well as the impact on quality of life. Finally, we present studies revealing real life experiences and review the advantages and disadvantages of possible second-line therapies including their cost effectiveness.


Asunto(s)
Adenocarcinoma/tratamiento farmacológico , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Neoplasias Pancreáticas/tratamiento farmacológico , Adenocarcinoma/secundario , Albúminas/administración & dosificación , Camptotecina/administración & dosificación , Camptotecina/análogos & derivados , Desoxicitidina/administración & dosificación , Desoxicitidina/análogos & derivados , Efectos Colaterales y Reacciones Adversas Relacionados con Medicamentos , Fluorouracilo/administración & dosificación , Humanos , Irinotecán , Leucovorina/administración & dosificación , Compuestos Organoplatinos/administración & dosificación , Oxaliplatino , Paclitaxel/administración & dosificación , Neoplasias Pancreáticas/patología , Calidad de Vida , Resultado del Tratamiento
15.
J Med Liban ; 64(1): 58-9, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-27169170

RESUMEN

We present a case in which transthoracic echocardiography was the first diagnostic tool to suspect mediastinal Hodgkin's lymphoma by revealing a change in the hemodynamic of left pulmonary artery flow, and it was used as a follow-up method for monitoring treatment efficacy by demonstrating a normalization of pulmonary artery hemodynamics.


Asunto(s)
Enfermedad de Hodgkin/diagnóstico , Arteria Pulmonar/diagnóstico por imagen , Arteria Pulmonar/fisiopatología , Adolescente , Ecocardiografía , Femenino , Hemodinámica , Humanos
16.
J Gastrointest Cancer ; 47(3): 223-31, 2016 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-27080402

RESUMEN

BACKGROUND: Lung is the second most common site of colorectal cancer metastasis. Treatment is based mainly on systemic therapy which has largely evolved lately, but outcome remains relatively poor. The place of locoregional therapies as curative strategies is still debated. METHOD: A systematic literature review was performed by the authors for systemic therapy, surgery, radiofrequency ablation (RFA), and stereotactic body radiation therapy (SBRT). The highest level of evidence for each strategy was presented. Major findings were addressed in a summarized and clinically relevant manner. RESULTS: All reported studies were descriptive non comparative reports except for one retrospective study comparing surgery to SBRT. The highest level of evidence for each therapeutic strategy are presented as follows: three large meta-analyses for surgery as well as seven and three prospective trials for RFA and SBRT, respectively. DISCUSSION: Surgery has the highest level of evidence for cure followed by RFA and SBRT. However, careful patient selection and complete resection of all metastasis are the main principles behind the efficacy of local therapies in the curative setting. Despite encouraging results, randomized trials are still needed.


Asunto(s)
Neoplasias Colorrectales/terapia , Neoplasias Pulmonares/secundario , Neoplasias Pulmonares/terapia , Radiocirugia/métodos , Ablación por Catéter/métodos , Neoplasias Colorrectales/patología , Neoplasias Colorrectales/radioterapia , Neoplasias Colorrectales/cirugía , Humanos , Neoplasias Pulmonares/radioterapia , Neoplasias Pulmonares/cirugía
18.
Mol Cytogenet ; 8: 26, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-25922617

RESUMEN

BACKGROUND: Chromosomal microarray analysis (CMA) is currently the most widely adopted clinical test for patients with unexplained intellectual disability (ID), developmental delay (DD), and congenital anomalies. Its use has revealed the capacity to detect copy number variants (CNVs), as well as regions of homozygosity, that, based on their distribution on chromosomes, indicate uniparental disomy or parental consanguinity that is suggestive of an increased probability of recessive disease. RESULTS: We screened 149 Lebanese probands with ID/DD and 99 healthy controls using the Affymetrix Cyto 2.7 M and SNP6.0 arrays. We report all identified CNVs, which we divided into groups. Pathogenic CNVs were identified in 12.1% of the patients. We review the genotype/phenotype correlation in a patient with a 1q44 microdeletion and refine the minimal critical regions responsible for the 10q26 and 16q monosomy syndromes. Several likely causative CNVs were also detected, including new homozygous microdeletions (9p23p24.1, 10q25.2, and 8p23.1) in 3 patients born to consanguineous parents, involving potential candidate genes. However, the clinical interpretation of several other CNVs remains uncertain, including a microdeletion affecting ATRNL1. This CNV of unknown significance was inherited from the patient's unaffected-mother; therefore, additional ethnically matched controls must be screened to obtain enough evidence for classification of this CNV. CONCLUSION: This study has provided supporting evidence that whole-genome analysis is a powerful method for uncovering chromosomal imbalances, regardless of consanguinity in the parents of patients and despite the challenge presented by analyzing some CNVs.

19.
Am J Emerg Med ; 33(1): 128.e5-7, 2015 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-25085282

RESUMEN

We present here a case in which contrast-enhanced computed tomography (CT) was the first diagnostic tool to detect myocardial hypoperfusion in a patient with atypical symptoms and normal electrocardiogram (ECG) on admission. An ST-segment elevation was detected thereafter on a second ECG realized several minutes after CT with raised troponin levels. Percutaneous coronary intervention was performed after failure of thrombolysis and confirmed occlusion of the left anterior descending artery. Further studies are needed to evaluate the role of high-resolution contrast-enhanced CT with or without coronary angiography in the workup of suspected myocardial infarction in the setting of a normal ECG.


Asunto(s)
Electrocardiografía , Infarto del Miocardio/diagnóstico por imagen , Tomografía Computarizada por Rayos X , Medios de Contraste , Diagnóstico Diferencial , Servicio de Urgencia en Hospital , Femenino , Historia del Siglo XVIII , Humanos , Infarto del Miocardio/terapia , Terapia Trombolítica
20.
J Gastrointest Cancer ; 45(4): 441-7, 2014 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-24880985

RESUMEN

BACKGROUND: The role of genetic factors in colorectal cancer pathogenesis is widely accepted. Polymorphisms are actually thought to play a role in the unexplained colorectal cancer (CRC) susceptibility. There is conflicting data regarding the role of the transforming growth factor beta receptor 1 polymorphism 6A (TGFBR1*6A) in the increased incidence of CRC. PURPOSE: Our aim is to test the association between this polymorphism and sporadic/familial CRC in the Lebanese population paying attention to lead time bias in the control group. This is a case-control study conducted in two Lebanese hospital centers. MATERIALS AND METHODS: Cases were diagnosed with CRC during the period of 1 year prior to the study. Controls were healthy subjects aged >50 years with a history of normal colonoscopy during the period of 5 years prior to the beginning of the study. A total of 96 cases (57 sporadic/39 familial) and 97 controls were genotyped. The odds ratios for 6A carrier status was statistically significant for sporadic CRC, odds ratio (OR) = 2.314 (95 % confidence interval (CI) 1.030-5.195) but not for familial CRC. RESULTS: No association was found between 6A carrier status and mean age at diagnosis of CRC. This is the first article in the literature to evaluate the association between 6A polymorphism and total, sporadic, and familial CRC in a single study with reduction of bias in the control group. Results are in conjunction with other studies and meta-analysis.


Asunto(s)
Neoplasias Colorrectales/genética , Proteínas Serina-Treonina Quinasas/genética , Receptores de Factores de Crecimiento Transformadores beta/genética , Anciano , Estudios de Casos y Controles , Femenino , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Masculino , Polimorfismo Genético , Prognatismo , Receptor Tipo I de Factor de Crecimiento Transformador beta , Factores de Riesgo
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