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AIM: The objective of this study was to evaluate short- and long-term survival after surgical treatment between young and older hepatocellular carcinoma (HCC) patients beyond the Milan criteria. MATERIAL AND METHODS: One hundred fifty-seven HCC patients (≤ 55 years old) were categorized into group A, and one hundred fifty-eight HCC patients (> 55 years old) were categorized into group B. Postoperative complications and overall survival were retrospectively analyzed. RESULTS: Older HCC patients had a higher rate of delayed extubation after surgery and suffered more complications after surgery, especially major complications. Intraoperative blood transfusion, liver fibrosis/cirrhosis and delayed extubation were risk factors related to postoperative complications. Microvascular invasion (MVI), tumor diameter, postoperative alpha-fetoprotein and the presence of satellites were independent risk factors for long-term survival. Young patients had more advanced tumors. Overall survival rates at 1, 3 and 5-years were 78.1%, 45.1% and 27.4% for young patients, respectively, and 86.5%, 57.5% and 42.4% for older patients, respectively (p = 0.007). CONCLUSION: The category A group had poorer tumor characteristics and worse prognoses than the category B group.
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Carcinoma Hepatocelular/cirugía , Técnicas de Apoyo para la Decisión , Hepatectomía , Neoplasias Hepáticas/cirugía , Adulto , Factores de Edad , Anciano , Pérdida de Sangre Quirúrgica , Carcinoma Hepatocelular/mortalidad , Carcinoma Hepatocelular/patología , Femenino , Hepatectomía/efectos adversos , Hepatectomía/mortalidad , Humanos , Estimación de Kaplan-Meier , Neoplasias Hepáticas/mortalidad , Neoplasias Hepáticas/patología , Masculino , Persona de Mediana Edad , Complicaciones Posoperatorias/etiología , Valor Predictivo de las Pruebas , Modelos de Riesgos Proporcionales , Estudios Retrospectivos , Factores de Riesgo , Factores de Tiempo , Resultado del TratamientoRESUMEN
ABSTRACT Objective Pendred syndrome (PS) is an autosomal recessive disorder characterised by sensorineural hearing loss and thyroid dyshormonogenesis. It is caused by biallelic mutations in the SLC26A4 gene encoding for pendrin. Hypothyroidism in PS can be present from birth and therefore diagnosed by neonatal screening. The aim of this study was to examine the SLC26A4 mutation spectrum and prevalence among congenital hypothyroidism (CH) patients in the Guangxi Zhuang Autonomous Region of China and to establish how frequently PS causes hearing impairment in our patients with CH. Subjects and methods Blood samples were collected from 192 CH patients in Guangxi Zhuang Autonomous Region, China, and genomic DNA was extracted from peripheral blood leukocytes. All exons of the SLC26A4 gene together with their exon-intron boundaries were screened by next-generation sequencing. Patients with SLC26A4 mutations underwent a complete audiological evaluation including otoscopic examination, audiometry and morphological evaluation of the inner ear. Results Next generation sequencing analysis of SLC26A4 in 192 CH patients revealed five different heterozygous variations in eight individuals (8/192, 4%). The prevalence of SLC26A4 mutations was 4% among studied Chinese CH. Three of the eight were diagnosed as enlargement of the vestibular aqueduct (EVA), no PS were found in our 192 CH patients. The mutations included one novel missense variant p.P469S, as well as four known missense variants, namely p.V233L, p.M147I, p.V609G and p.D661E. Of the eight patients identified with SLC26A4 variations in our study, seven patients showed normal size/location of thyroid gland, and one patients showed a decreased size one. Conclusions The prevalence of SLC26A4 pathogenic variants was 4% among studied Chinese patients with CH. Our study expanded the SLC26A4 mutation spectrum, provided the best estimation of SLC26A4 mutation rate for Chinese CH patients and indicated the rarity of PS as a cause of CH.
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Humanos , Masculino , Femenino , Recién Nacido , Proteínas de Transporte de Membrana/genética , Pruebas Genéticas/métodos , Bocio Nodular/genética , Pérdida Auditiva Sensorineural/genética , Mutación , Tiroxina/sangre , Acueducto Vestibular/anomalías , Tirotropina/sangre , China/epidemiología , Prevalencia , Estudios de Cohortes , Tamizaje Neonatal/métodos , Transportadores de Sulfato , Bocio Nodular/epidemiología , Pérdida Auditiva Sensorineural/epidemiologíaRESUMEN
OBJECTIVE: Pendred syndrome (PS) is an autosomal recessive disorder characterised by sensorineural hearing loss and thyroid dyshormonogenesis. It is caused by biallelic mutations in the SLC26A4 gene encoding for pendrin. Hypothyroidism in PS can be present from birth and therefore diagnosed by neonatal screening. The aim of this study was to examine the SLC26A4 mutation spectrum and prevalence among congenital hypothyroidism (CH) patients in the Guangxi Zhuang Autonomous Region of China and to establish how frequently PS causes hearing impairment in our patients with CH. SUBJECTS AND METHODS: Blood samples were collected from 192 CH patients in Guangxi Zhuang Autonomous Region, China, and genomic DNA was extracted from peripheral blood leukocytes. All exons of the SLC26A4 gene together with their exon-intron boundaries were screened by next-generation sequencing. Patients with SLC26A4 mutations underwent a complete audiological evaluation including otoscopic examination, audiometry and morphological evaluation of the inner ear. RESULTS: Next generation sequencing analysis of SLC26A4 in 192 CH patients revealed five different heterozygous variations in eight individuals (8/192, 4%). The prevalence of SLC26A4 mutations was 4% among studied Chinese CH. Three of the eight were diagnosed as enlargement of the vestibular aqueduct (EVA), no PS were found in our 192 CH patients. The mutations included one novel missense variant p.P469S, as well as four known missense variants, namely p.V233L, p.M147I, p.V609G and p.D661E. Of the eight patients identified with SLC26A4 variations in our study, seven patients showed normal size/location of thyroid gland, and one patients showed a decreased size one. CONCLUSIONS: The prevalence of SLC26A4 pathogenic variants was 4% among studied Chinese patients with CH. Our study expanded the SLC26A4 mutation spectrum, provided the best estimation of SLC26A4 mutation rate for Chinese CH patients and indicated the rarity of PS as a cause of CH.
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Pruebas Genéticas/métodos , Bocio Nodular/genética , Pérdida Auditiva Sensorineural/genética , Proteínas de Transporte de Membrana/genética , Mutación , China/epidemiología , Estudios de Cohortes , Femenino , Bocio Nodular/epidemiología , Pérdida Auditiva Sensorineural/epidemiología , Humanos , Recién Nacido , Masculino , Tamizaje Neonatal/métodos , Prevalencia , Transportadores de Sulfato , Tirotropina/sangre , Tiroxina/sangre , Acueducto Vestibular/anomalíasRESUMEN
OBJECTIVE: To study national prevalence of dizziness and balance problems in US children and explore associated risk factors and patterns of healthcare utilization. STUDY DESIGN: A multistage, nationally representative, probability sample of children (n = 10,954; aged 3-17 years) was examined based on the 2012 National Health Interview Survey Child Balance Supplement. Parents were asked if during the past year their child was bothered by symptoms of dizziness and balance problems: vertigo (motion sensation), light-headedness/fainting, clumsiness/poor coordination, poor balance/unsteadiness when standing-up or walking, frequent falls, or other dizziness and balance problems. Logistic regression was used to examine associations with sociodemographic information, birth weight, developmental delays, and significant health conditions. RESULTS: Prevalence of dizziness and balance problems was 5.3% (3.3 million US children); females, 5.7%, males, 5.0%. Non-Hispanic white (6.1%) had increased prevalence compared with Hispanic (4.6%) and non-Hispanic black (4.3%) children, P = .01. Prevalence increased with age, from 4.1% for children aged 3-5 years to 7.5% for children aged 15-17 years, P < .001. Even though the majority had symptoms rated as "no problem" or "a small problem," 18.6% (600,000 US children) had symptoms rated as "moderate," "big," or "very big" problems. Overall, 36.0% of children with dizziness and balance problems were seen by healthcare professionals during the past year and 29.9% received treatment. Among children with dizziness and balance problems rated as moderate/big/very big problems, 71.6% had seen healthcare professionals and 62.4% received treatment for dizziness and balance problems. CONCLUSIONS: The risk factors identified provide useful epidemiologic information about dizziness and balance problems in children and will be used in tracking the Healthy People 2020 goal to increase utilization of healthcare services for these children.
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Mareo/epidemiología , Equilibrio Postural , Trastornos de la Sensación/epidemiología , Vértigo/epidemiología , Adolescente , Peso al Nacer , Niño , Preescolar , Estudios Transversales , Recolección de Datos , Discapacidades del Desarrollo/complicaciones , Discapacidades del Desarrollo/diagnóstico , Femenino , Encuestas Epidemiológicas , Humanos , Masculino , Prevalencia , Análisis de Regresión , Factores de Riesgo , Clase Social , Resultado del Tratamiento , Estados Unidos , CaminataRESUMEN
There are growing demands for condition-based monitoring of gearboxes, and techniques to improve the reliability, effectiveness and accuracy for fault diagnosis are considered valuable contributions. Feature selection is still an important aspect in machine learning-based diagnosis in order to reach good performance in the diagnosis system. The main aim of this research is to propose a multi-stage feature selection mechanism for selecting the best set of condition parameters on the time, frequency and time-frequency domains, which are extracted from vibration signals for fault diagnosis purposes in gearboxes. The selection is based on genetic algorithms, proposing in each stage a new subset of the best features regarding the classifier performance in a supervised environment. The selected features are augmented at each stage and used as input for a neural network classifier in the next step, while a new subset of feature candidates is treated by the selection process. As a result, the inherent exploration and exploitation of the genetic algorithms for finding the best solutions of the selection problem are locally focused. The Sensors 2015, 15 23904 approach is tested on a dataset from a real test bed with several fault classes under different running conditions of load and velocity. The model performance for diagnosis is over 98%.
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OBJECTIVE: Dyshormonogenetic congenital hypothyroidism (CH) was reported to be associated with a mutation in the sodium iodide symporter (NIS) gene. The present study was undertaken in the Guangxi Zhuang Autonomous Region of China, to determine the nature and frequency of NIS gene mutations among patients with CH due to dyshormonogenesis. SUBJECTS AND METHODS: Blood samples were collected from 105 dyshormonogenetic CH patients in Guangxi Zhuang Autonomous Region, China, and genomic DNA was extracted from peripheral blood leukocytes. All exons of the NIS gene together with their exon-intron boundaries were screened by next-generation sequencing. RESULTS: Two silent variations (T221T and T557T) and one missense variation (M435L), as well as two polymorphisms (rs200587561 and rs117626343) were found. CONCLUSIONS: Our results indicate that the NIS mutation rate is very low in the Guangxi Zhuang Autonomous Region, China, and it is necessary to study mutations of other genes that have major effects on thyroid dyshormonogenesis and have not as yet been studied in this population.
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Hipotiroidismo Congénito/genética , Frecuencia de los Genes/genética , Mutación , Simportadores/genética , China , Estudios de Cohortes , ADN , Exones/genética , Humanos , Recién Nacido , Tamizaje Neonatal , Reacción en Cadena de la Polimerasa , Polimorfismo Genético/genética , Análisis de Secuencia de Proteína/métodos , Simportadores/químicaRESUMEN
Objective Dyshormonogenetic congenital hypothyroidism (CH) was reported to be associated with a mutation in the sodium iodide symporter (NIS) gene. The present study was undertaken in the Guangxi Zhuang Autonomous Region of China, to determine the nature and frequency of NIS gene mutations among patients with CH due to dyshormonogenesis. Subjects and methods: Blood samples were collected from 105 dyshormonogenetic CH patients in Guangxi Zhuang Autonomous Region, China, and genomic DNA was extracted from peripheral blood leukocytes. All exons of the NIS gene together with their exon-intron boundaries were screened by next-generation sequencing. Results Two silent variations (T221T and T557T) and one missense variation (M435L), as well as two polymorphisms (rs200587561 and rs117626343) were found. Conclusions Our results indicate that the NIS mutation rate is very low in the Guangxi Zhuang Autonomous Region, China, and it is necessary to study mutations of other genes that have major effects on thyroid dyshormonogenesis and have not as yet been studied in this population. .
Objetivo O hipotireoidismo congênito disormonogenético (CH) foi relatado como associado a uma mutação no gene simportador sódio/iodeto (NIS). O presente estudo foi feito na região autônoma de Guangxi Zhuang na China para se determinar a natureza e a frequência das mutações no gene NIS entre pacientes com CH causado por disormonogênese. Sujeitos e métodos: Amostras de sangue foram coletadas de 105 pacientes com CH disormonogenéticos e o DNA genômico foi extraído de leucócitos do sangue periférico. Todos os éxons do gene NIS, junto com seus limites éxon-íntron, foram analisados por sequenciamento de nova geração. Resultados Foram encontradas duas variações silenciosas (T221T e T557T) e uma variação missense (M435L), assim como dois polimorfismos (rs200587561 e rs117626343). Conclusões Nossos resultados indicam que a taxa de mutação em NIS é muito baixa na região de Guangxi Zhuang. É necessário estudar mutações de outros genes que tenham efeitos maiores na disormonogênese da tiroide e que ainda não tenham sido estudados nesta população. .
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Humanos , Recién Nacido , Hipotiroidismo Congénito/genética , Frecuencia de los Genes/genética , Mutación , Simportadores/genética , China , Estudios de Cohortes , ADN , Exones/genética , Tamizaje Neonatal , Reacción en Cadena de la Polimerasa , Polimorfismo Genético/genética , Análisis de Secuencia de Proteína/métodos , Simportadores/químicaRESUMEN
BACKGROUND: Living donor liver transplantation (LDLT) for patients with high model for end-stage liver disease (MELD) scores is controversial due to its poor outcome. However, there is little information regarding which factor would negatively impact the outcome of patients with high MELD scores. The aim of this study was to identify factors associated with the in-hospital mortality of patients with high MELD scores after LDLT. MATERIAL AND METHODS: All patients with an MELD scores ≥ 20 who received LDLT from 2005 to 2011 were recruited for the present study. Pre- and intra-operative variables were retrospectively and statistically analyzed. RESULTS: A total of 61 patients were included in the current study. The overall 3-month survival rate was 82% for patients with high MELD scores. Preoperative renal dysfunction, hyponatremia, starting albumin level < 2.8 g/dL, preoperative renal replacement for severe renal failure, anhepatic period > 100 minutes and intraoperative red blood cell (RBC) transfusion ≥ 10 units were identified as potential risk factors by univariate analysis. However, only hyponatremia, preoperative dialysis and massive RBC transfusion were independent risk factors in a multivariate analysis. The 3-month survival rates of patients with two or more independent risk factors and patients with none or one risk factor were 91 and 25%, respectively. A significant difference was observed (P < 0.001). CONCLUSION: Hyponatremia, preoperative dialysis and massive RBC transfusion were related to poor outcome for sicker patients. Patients with two or more of the above-mentioned risk factors and high MELD scores may exhibit extremely poor short-term survival.