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1.
Eur Rev Med Pharmacol Sci ; 24(2): 704-711, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-32016972

RESUMO

OBJECTIVE: The aim of this study was to elucidate the function of long non-coding ribonucleic acids (lncRNAs) HANR in aggravating non-small cell lung cancer (NSCLC) progression via targeting microRNA-140-5p (miRNA-140-5p). PATIENTS AND METHODS: The relative expression level of HANR in NSCLC tissues and cell lines was determined by quantitative Real Time-Polymerase Chain Reaction (qRT-PCR). The correlation between HANR expression and the prognosis of NSCLC was analyzed. The regulatory effects of HANR on cellular behaviors of NSCLC cells were evaluated by Cell Counting Kit-8 (CCK-8), transwell and wound healing assay. Meanwhile, the relative expression of miRNA-140-5p in NSCLC tissues and cell lines was determined by qRT-PCR. In addition, rescue experiments were carried out to evaluate the potential influence of HANR/miRNA-140-5p on the progression of NSCLC. RESULTS: HANR expression was significantly up-regulated in NSCLC tissues and cell lines. HANR expression was positively correlated with lymphatic metastasis and distant metastasis of NSCLC patients, whereas it was negatively correlated with the overall survival of NSCLC patients. Knockdown of HANR markedly suppressed the proliferative, migratory and invasive abilities of NSCLC cells. In NSCLC tissues, the miRNA-140-5p level was negatively associated with HANR level. Furthermore, inhibited cellular behaviors of NSCLC cells transfected with sh-HANR were partially reversed after miRNA-140-5p knockdown. CONCLUSIONS: LncRNA HANR accelerates the proliferative, migratory and invasive abilities of NSCLC via negatively mediating miRNA-140-5p. Furthermore, HANR is closely correlated with lymphatic metastasis, distant metastasis and poor prognosis of NSCLC.

2.
Zhonghua Er Ke Za Zhi ; 58(1): 35-40, 2020 Jan 02.
Artigo em Chinês | MEDLINE | ID: mdl-31905474

RESUMO

Objective: To investigate the genotype and phenotype of children with KCNA2 gene related developmental and epileptic encephalopathy (DEE). Methods: Clinical data including the manifestations and electroencephalogram of 8 children with KCNA2 variants treated in the Department of Pediatrics, Peking University First Hospital from March 2017 to June 2019 were collected and analyzed retrospectively. Results: Among the 8 epileptic patients with KCNA2 variants, 5 were males and 3 were females. The age of onset was from 1 day to 11 months. The age at last follow-up ranged from 4 months to 86 months. Two variants including c.1214C>T (loss-of-function) and c.1120A>G (gain-and loss-of-function) were identified. The variant of c.1214C>T was found in six patients (case 1-6). For these patients, the age of onset was from 5 to 11 months and they were characterized by multiple seizure types. All had focal seizures and had normal development before seizure onset with developmental regression after seizure onset. The first electroencephalogram showed epileptic discharges in Rolandic region in two, epileptic discharges in Rolandic region combined with generalized discharge in one, generalized discharge with posterior predominance in two (combined with or transferred to Rolandic region during the course) and epileptic discharges in posterior region combined with generalized discharge in one. And in 5 of them the Rolandic discharges developed into epileptic electrical status (ESES) during sleep. All the six patients were still treated with a combination of multiple antiepileptic drugs. Two of them had seizure controlled at 80 months and 68 months, respectively. The variant of c.1120A>G were identified in two of eight patients (case 7 and 8) and they had seizure onset on the 1st day after birth. Their epileptic seizures were frequent and difficult to control. They had remarkably developmental delay and microcephaly since birth. One case (case 8) had a wide forehead. They had frequent seizures up to the last follow-up. In case 7, the early electroencephalogram showed epileptic discharges in temporal region, and interictal electroencephalogram at 3 months of age showed multifocal discharge with posterior and temporal region predominance. In case 8, the early electroencephalogram was normal and electroencephalogram showed burst suppression at 2 months of age, and it developed epileptiform discharge in posterior region at 1 year of age. Conclusions: KCNA2 gene variants can lead to DEE with multiple seizures types. Among them, loss-of-function c.1214C>T is the most common, and these patients have seizure onset at infancy with Rolandic discharges tended to develop into to ESES pattern. The variant of c.1120A>G is a gain-of- and loss-of-function variant, patients with c.1120A>G have seizure onset in neonatal period, the phenotype overlaps with the former but is more severe.


Assuntos
Encefalopatias/genética , Epilepsia/diagnóstico , Canal de Potássio Kv1.2/genética , Convulsões , Idade de Início , Encéfalo/fisiopatologia , Encefalopatias/fisiopatologia , Criança , Pré-Escolar , Deficiências do Desenvolvimento/fisiopatologia , Epilepsia/complicações , Epilepsia/genética , Feminino , Predisposição Genética para Doença , Genótipo , Humanos , Lactente , Recém-Nascido , Masculino , Fenótipo , Estudos Retrospectivos
3.
Zhonghua Er Ke Za Zhi ; 57(12): 943-949, 2019 Dec 02.
Artigo em Chinês | MEDLINE | ID: mdl-31795561

RESUMO

Objective: To investigate the electroclinical findings in epilepsy children with epileptic negative myoclonus (ENM) restricted to the lower limb as the first seizure type. Methods: Each retrieved electroencephalogram record performed between March 2011 and March 2018 at the Department of Pediatrics of Peking University First Hospital was searched with "midline" . There were 302 records of 175 patients with "benign" or "functional" midline spikes. A retrospective review of each patient's hospital record was performed. Thirteen patients had ENM restricted to the lower limb as the first seizure type. The clinical and electroencephalogram characteristics of them were analyzed. Results: Thirteen patients manifested ENM restricted to the lower limb as the first seizure type, diagnosed as benign childhood focal epilepsy with vertex spikes (BEVS). Six patients had ENM as the first and only seizure type during the short-time follow-up. Among them, there were 1 male and 5 females. The age at seizure onset was (2.5±0.7) years. One of them had electrical status epilepticus during sleep (ESES) identified on electroencephalogram at theage of 4 years and 8 months. The last follow-up age was (3.8±1.5) years. The remaining 7 patients developed nocturnal focal motor seizures. Among them, there were 4 males and 3 females. The age at seizure onset was (3.5±0.7) years. Two of them were diagnosed as BEVS evolving into benign childhood epilepsy with centrotemporal spikes (BECTS) and 5 were diagnosed as BEVS concurring with BECTS. The age at focal seizures was (4.1±0.6) years. The interval ranged from 1 month to 1 years. Six of 7 patients had electrical ESES with the age of (5.2±1.0) years. All had developmental regression, further diagnosed as atypical benign partial epilepsy (ABPE). The median age at last follow-up was 5.9 years. Five of 13 patients had repeated electroencephalogram records at our apartment, showing that epileptiform discharges in midline regions were significantly reduced either in frequency or amplitude with the improvement of ENM restricted to the lower limb and that independent epileptiform discharges in Rolandic regions from midline regions were noticed with the onset of nocturnal focal seizures. Conclusions: ENM restricted to the lower limb has a close association with vertex (midline) epileptiform discharges. ENM restricted to the lower limb as the first seizure type is a peculiar phenomenon of BEVS. Some patients could evolve into BECTS or overlap with BECTS, and further into ABPE. The age of seizure onset in BEVS with ENM restricted to the lower limb as the first symptom is a little earlier than in BECTS. Ignorance of the close association between midline spikes and ENM restricted to the lower limb may lead to misdiagnosis of these patients.


Assuntos
Epilepsias Parciais/diagnóstico , Epilepsia Rolândica/diagnóstico , Mioclonia/diagnóstico , Criança , Pré-Escolar , Eletroencefalografia , Feminino , Humanos , Masculino , Estudos Retrospectivos , Convulsões/etiologia
4.
Zhonghua Er Ke Za Zhi ; 57(11): 857-862, 2019 Nov 02.
Artigo em Chinês | MEDLINE | ID: mdl-31665840

RESUMO

Objective: To analyze the clinical characteristics of patients with PCDH19-female limited epilepsy (PCDH19-FE). Methods: The clinical data of 60 female epilepsy patients with PCDH19 gene heterozygous variations at the Department of Pediatrics, Peking University First Hospital from October 2007 to December 2018 were collected and analyzed retrospectively, their clinical manifestations, accessory examination and follow-up treatment were summarized. Results: Data of a total of 60 cases of PCDH19-FE were collected. The seizure onset occurred between 4 and 42 months of age (median: 11 months of age). Focal seizures occurred in 47 patients (78%), generalized tonic-clonic seizures (GTCS) occurred in 30 patients (50%), and other rare types of seizures included atypical absence, myoclonic, clonic, tonic, and atonic seizures. Two or more seizures types existed in 24 patients (40%), and seven patients (12%) had attacks of status epilepticus. Sensitivity to fever was observed in 47 out of them (78%) and clustering of seizures as found in all patients. During the interictal phase, focal discharges were monitored in 22 cases (22/45, 49%), multifocal discharges in 12 cases (12/45, 27%), widely discharging in 2 cases (4%), and both focal and widely discharging in 9 cases (20%). Clinical seizures were detected in 30 patients during the electroencephalogram (EEG) recording, including focal seizures in 22 cases, GTCS seizures in 8 cases, tonic seizure in three cases, myoclonic seizure followed by GTCS in one case, and two types of seizures in four cases. Before seizure onset, 57 patients had normal development and three patients had delayed language development. After seizure onset, varied degrees of intelligence disability were present in 38 cases (63%), language delay in 36 cases (60%), and gait instability in 10 cases (17%). Autistic features occurred in 17 cases (28%); and other behavioral problems like learning difficulties, personality, or emotional disorders existed in 33 cases (55%). Age at last follow-up ranged from one year and 3 months to 22 years and 3 months of age, 17 patients (28%) were seizure-free for more than 2 years (5 to 22 years at the last follow-up). The efficiency of antiepileptic drugs were 65% (33/51) in sodium valproate, 63% (27/43) in levetiracetam and 59% (20/34) in topiramate. Conclusions: The clinical features of PCDH19-FE are characterized by clustering of seizures, focal seizures in most cases, sensitivity to fever mostly, focal discharges principally in EEG, varied degrees of intellectual disability or movement disorder, combined with autism spectrum disorders in partial and high efficiency in sodium valproate or levetiracetam treatment.


Assuntos
Caderinas/genética , Epilepsias Mioclônicas/genética , Epilepsia/genética , Convulsões/genética , Adolescente , Transtorno do Espectro Autista , Criança , Pré-Escolar , Eletroencefalografia , Epilepsia/fisiopatologia , Feminino , Humanos , Lactente , Mutação , Estudos Retrospectivos , Convulsões/fisiopatologia , Adulto Jovem
5.
Fa Yi Xue Za Zhi ; 35(3): 300-303, 2019 Jun.
Artigo em Inglês, Chinês | MEDLINE | ID: mdl-31282624

RESUMO

Abstract: Objective To discuss the causes and precautionary measures of the risks of relevant medical disputes by analyzing 22 cases of death from otolaryngology diseases. Methods A retrospective analysis of 22 judicial expertise cases of medical disputes related to death from otolaryngology diseases accepted by Chongqing Zhengding Judicial Appraisal Institute and Academy of Forensic Science during 2008-2018 were made. Results Of the 22 cases, the male to female ratio was 3.4∶1. The age of death was from 1.3 to 76 years old, with an average age of 45.3 years. There were 28 medical institutions involved, of which 71.4% were tertiary medical institutions. Statistics for death causes showed that respiratory asphyxia accounted for 50%. Conclusion Forensic identification provides an important scientific basis for medical disputes cases related to otolaryngology diseases. It also has an important reference value for medical institutions to optimize the work procedure of diagnosis and treatment of otolaryngology diseases and improve the quality of diagnosis and treatment.


Assuntos
Dissidências e Disputas , Otorrinolaringopatias , Adolescente , Adulto , Idoso , Causas de Morte , Criança , Pré-Escolar , Morte , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto Jovem
6.
Zhonghua Er Ke Za Zhi ; 57(7): 532-537, 2019 Jul 02.
Artigo em Chinês | MEDLINE | ID: mdl-31269553

RESUMO

Objective: To analyze the clinical phenotypes of epilepsies in children with GABRB2 variants. Methods: Data of 8 epileptic patients with heterozygous GABRB2 variants were retrospectively collected at the Department of Pediatrics, Peking University First Hospital from April 2016 to December 2018. The clinical, electroencephalographic, neuroimaging characteristics, therapeutic and follow-up were analyzed. Results: Eight patients (4 boys, 4 girls) with heterozygous GABRB2 gene pathogenic variants were enrolled. Eight patients had different GABRB2 variants, among whom 2 patients inherited the variants from either parent, and the other 6 patients had de novo variants. Seven variants were novel. Ages at seizure onset ranged from 1 day to 22 months after birth, and the median age was 6 months. The seizure was first observed within one month of age in 2 patients, 1-6 months in 2 patients, 7-12 months in 2 patients, and beyond 1 year of age in 2 patients. Multiple seizure types were observed, including focal seizures in 6 patients, generalized tonic clonic seizures (GTCS) in 4 patients, myoclonic seizures in 3 patients, and epileptic spasm in 2 patients. Developmental delay was present in 6 patients. In 8 patients, Dravet syndrome was diagnosed in 3 patients, febrile seizures plus and West syndrome in 2 patients, respectively, Ohtahara syndrome in 1 patient. Six patients had epilepsy with fever sensitivity, and status epilepticus developed in all these patients. The ages at the last follow-up ranged from 8 months to 11 years, and the follow-up data showed that 5 patients were seizure-free, and 2 patients still had seizures, and 1 patient died of recurrent status epilepticus complicated with fungal infection. Conclusions: Epilepsies associated with GABRB2 variants were characterized by an onset in infancy, and the clinical features were heterogenous in seizure types and severities. Most patients had multiple seizures with fever sensitivity, and status epilepticus was common. Their seizures were easily induced by fever or infection. Additionally, the majority of the patients had varying degrees of developmental delay.


Assuntos
Epilepsias Mioclônicas/genética , Epilepsia/genética , Receptores de GABA-A/genética , Idade de Início , Criança , Pré-Escolar , Eletroencefalografia , Epilepsias Mioclônicas/diagnóstico , Epilepsia/diagnóstico , Feminino , Humanos , Lactente , Masculino , Mutação , Estudos Retrospectivos , Convulsões , Espasmos Infantis/genética
7.
Artigo em Chinês | MEDLINE | ID: mdl-31189243

RESUMO

Objective: To investigate the compliance of inhalation during stable phase of pneumoconiosis complicated with COPD and to explore the factors influencing compliance. Methods: The patients with pneumoconiosis complicated with COPD who were hospitalized in the four Department of occupational disease prevention and treatment in Hunan province from December 2016 to August 2017 were selected as the research subjects. The examination of Chest radiograph, HRCT and lung function was perfected, and CAT score and MRC score were carried out. The age, culture, smoking history, acute aggravation of 1 years, medical insurance and so on were collected, and follow-up was conducted after 6 months. Results: Of the 115 patients who had successfully followed up, 14 cases (12.17%) were persisted in medication, and 101 cases (87.83%) did not adhere to the medication. The smoking index median of the non adherence group was 30 (15, 40) , while that of the adherence group was 16 (6, 31) . The smoking index of the adherence group was lower than that of the non adherence group. The FEV1% in the unadhered group was 44.69+15.48, and the drug group was 37.12+16.98, the FEV(1)/FVC in the unadhered group was 52.43+9.19, and the drug group was 44.43+11.88, and the lung function of the drug group was worse than that of the unadhered group. The adherence rate of group COPD (group D) was higher than that of group A, B and C, and the difference between D group and B group was statistically significant. The adherence rate of pneumoconiosis stage Ⅲ was higher than that of pneumoconiosis stageⅡand pneumoconiosisⅠ. Conclusion: The compliance of long acting bronchodilator inhalation is low in stable phase of pneumoconiosis complicated with COPD. The poorer the lung function, the higher the compliance of inhalation. The compliance of pneumoconiosis patients with Medical insurance for industrial injury is higher than that of pneumoconiosis patients with New rural cooperative medical service.


Assuntos
Adesão à Medicação , Pneumoconiose , Doença Pulmonar Obstrutiva Crônica , Humanos , Pneumoconiose/complicações , Pneumoconiose/tratamento farmacológico , Doença Pulmonar Obstrutiva Crônica/complicações , Doença Pulmonar Obstrutiva Crônica/tratamento farmacológico , Testes de Função Respiratória , Fumar
8.
Beijing Da Xue Xue Bao Yi Xue Ban ; 51(3): 422-429, 2019 Jun 18.
Artigo em Chinês | MEDLINE | ID: mdl-31209412

RESUMO

OBJECTIVE: To investigate whether the tonic-clonic seizure (TCS) induced by intermittent photic stimulation (IPS)was generalized tonic-clonic seizure (GTCS)or partial secondarily tonic-clonic seizure (PGTCS),and to analyze the relationship between them. METHODS: Video-electroencephalogram (VEEG)database of Peking University First Hospital from March 2010 to October 2018 were reviewed. Fifteen cases with idiopathic epilepsy who had TCS induced by IPS were included in this study, and their clinical and electroencephalogram (EEG)characteristics were retrospectively analyzed. RESULTS: In this study, 4 of the 15 cases were boys and 11 were girls. The age of seizure onset ranged from 1 to 13 years. According to the medical records: 12 cases were considered as GTCS,while the remaining 3 cases were considered as PGTCS. The age at VEEG monitoring ranged from 2.5 to 16.0 years. All backgrounds of the VEEG were normal. Interictal discharges:generalized discharges in 11 cases, of which 4 cases coexisted with posterior discharges, 2 cases coexisted with Rolandic discharges, the other 5 cases merely had generalized discharges; merely focal discharges in two cases, one in the Rolandic area and the other in the posterior area; no interictal discharge in the remaining 2 cases. IPS induced photoparoxysmal response (PPR)results: 2 cases without PPR,the remaining 13 cases with PPR of generalized discharges, and 6 of the 13 cases coexisted with posterior discharges. IPS induced photoconvulsive response (PCR)results: GTCS in one case (contradictory to medical history),PGTCS in 11 cases (consistent with medical history),and GTCS and PGTCS hardly to distinguish in the remaining 3 cases. Of the three conditions above, there were generalized myoclonic seizures induced by IPS before TCS in 7 cases. CONCLUSION: The medical history was unreliable in determining whether TCS was generalized or focal. Myoclonic seizures can coexist with PGTCS, and sometimes GTCS was indistinguishable from PGTCS, indicating that the dichotomy of seizure types need to be improved. Photosensitive TCS should be regarded as a continuum between focal and generalized seizures.


Assuntos
Epilepsia Generalizada , Epilepsia Tônico-Clônica , Eletroencefalografia , Feminino , Humanos , Masculino , Estudos Retrospectivos , Convulsões
9.
Eur Rev Med Pharmacol Sci ; 23(11): 4882-4889, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31210322

RESUMO

OBJECTIVE: To investigate the association of Toll-like receptor 4-myeloid differential protein-88- c-Jun N-terminal kinase (TLR4-MyD88-JNK) signaling pathway with inflammatory response in intracranial hemorrhage (ICH) rats and its effect on neuronal apoptosis. PATIENTS AND METHODS: The autologous blood was drawn and injected into the brain to establish the rat model of ICH (model group), and the control group was set up. The neurological behavior Longa score was given. The blood and brain tissues of rats were then collected to detect the serum indexes, including glucose (GLU), creatinine (CR), K+ and Na+, and the content of interleukin-6 (IL-6), IL-1ß and tumor necrosis factor-α (TNF-α) in each group. The neuronal apoptosis of brain tissues was detected via terminal deoxynucleotidyl transferase-mediated dUTP nick end labeling (TUNEL) staining. Moreover, the expressions of apoptosis- and TLR4-MyD88-JNK pathway-related genes and proteins were detected via Reverse Transcription-Polymerase Chain Reaction (RT-PCR) and Western blotting. Finally, the association of TLR4-MyD88-JNK signaling pathway with the inflammatory response in ICH rats and its effect on neuronal apoptosis were completely observed. RESULTS: MiR-23b was dramatically down-regulated in CC and the low miR-23b expressions were associated with the poor prognosis and worse OS of CC patients. Additionally, the functional assays demonstrated that miR-23b overexpression obviously repressed CC cell proliferation, invasion and migration abilities through the regulation of the AKT/mTOR pathway and the epithelial-to-mesenchymal transition (EMT) progress. Moreover, the luciferase reporter assay indicated that six1 was one functional target for miR-23b in CC cells, indicating that the inhibitory functions of miR-23b in CC cells were partially regulated by six1. Moreover, miR-23b restoration could prominently repress tumor growth in vivo. CONCLUSIONS: The TLR4-MyD88-JNK signaling pathway can facilitate the inflammatory response in ICH rats, thereby promoting the neuronal apoptosis.

10.
Zhonghua Er Ke Za Zhi ; 57(6): 458-464, 2019 Jun 02.
Artigo em Chinês | MEDLINE | ID: mdl-31216804

RESUMO

Objective: To identify the pathogenic gene variants and clinical phenotype features of 26 children with progressive myoclonic epilepsy (PME). Methods: In this cross-sectional study, 26 PME children (11 boys and 15 girls) sent to neurological outpatient clinics and admitted to wards of the Department of Pediatrics, Peking University First Hospital were enrolled prospectively from January 2014 to October 2018. The pathogenic gene variants of PME children and their parents were identified by Sanger sequencing, next generation sequencing panels of epilepsy or trio-based whole exome sequencing and so on. The genotypes and phenotypes of the PME children were anaylzed. Results: The clinical features of 26 children include myoclonus, multiple types of seizures and progressive neurological regression. Their onset ages ranged from 3 months to 15 years. Several pathogenic gene variants were identified in the 15 patients, including TPP1 gene variantions in 3 patients; NEU1, GBA, TBC1D24 and KCNC1 gene variantions in 2 patients respectively; CLN6, MFSD8, ASAH1 and ATN1 gene variantions in 1 patient respectively. Several variants of uncertain significance were identified in 4 patients, including GOSR2 gene compound heterozygous variants in 2 patients, KCTD7 gene compound heterozygous variants in 1 patient, and compound heterozygous variants of an unreported TARS gene in 1 patient. No pathogenic gene variant was identified in 7 patients. In 15 children with the identified pathogenic gene variants, 5 patients were diagnosed with neuronal ceroid lipofuscinoses (NCL), 2 patients with sialidosis, 2 patients with neuronopathic Gaucher disease, 1 patient with dentatorubral-pallidoluysian atrophy (DRPLA), and 1 patient with spinal muscular atrophy-progressive myoclonic epilepsy (SMA-PME). Conclusions: PME include a group of diseases with genetic heterogeneity. Identification of the pathogenic gene variants of PME could help to predict the prognosis and guide the genetic counseling.


Assuntos
Atrofia Muscular Espinal/complicações , Atrofia Muscular Espinal/genética , Epilepsias Mioclônicas Progressivas/genética , Adolescente , Idade de Início , Proteínas de Transporte , Criança , Pré-Escolar , Estudos Transversais , Análise Mutacional de DNA , Feminino , Humanos , Lactente , Masculino , Proteínas de Membrana , Atrofia Muscular Espinal/fisiopatologia , Mutação , Epilepsias Mioclônicas Progressivas/diagnóstico , Proteínas do Tecido Nervoso , Fenótipo , Canais de Potássio , Canais de Potássio Shaw
11.
Zhonghua Zhong Liu Za Zhi ; 41(6): 471-476, 2019 Jun 23.
Artigo em Chinês | MEDLINE | ID: mdl-31216836

RESUMO

Objective: To characterize the clinical epidemiological features of primary lung cancer patients based on massive clinical data. Methods: The demographic and histological information of 8 081 primary lung cancer patients who were initially identified from 1 January 2012 to 31 December 2013 in 16 hospitals from 6 provinces were retrospectively analyzed to determine the characteristics of different histological subtypes among different gender, age-group and birth cohort. Results: Among the 8 081 lung cancer patients, 5 422 (67.10%) were male and 2 659 (32.90%) were female, the average age was (60.96±10.14) years. The most common histological subtypes of lung cancer successively were adenocarcinoma (ADC), squamous cell carcinoma (SCC), small cell carcinoma and large cell carcinoma, and the proportions of these subtypes were 53.13%, 24.51%, 14.59% and 0.66%, respectively, which collectively accounted for 92.89%. The current highest smoking rate was observed in SCC patients, which was 62.45%, while lowest in ADC, which was 29.68%. The incidence of lung cancer in male was significantly higher that that of female, with a sex ratio of 2.04∶1. The highest sex ratio was observed in SCC, which was 9.14∶1, while lowest in ADC, which was 1.14∶1. The distribution of histological subtypes in male lung cancer patients was consistent with the general situation.While among the female lung cancer patients, the proportion of ADC was the highest (75.42%), followed by SCC (10.08%), squamous cell carcinoma (7.34%) and large cell carcinoma (0.39%). Analyzed by the birth cohort, the proportion of ADC gradually increased with the age, while the reduced tendency was observed in SCC (P<0.000 1). Conclusion: Adenocarcinoma is the most important histological subtype of lung cancer, and the distribution characteristics of histological subtypes of lung cancer differs among genders, age and birth cohort.


Assuntos
Neoplasias Pulmonares/patologia , Adenocarcinoma , Idoso , Carcinoma de Células Grandes , Carcinoma de Células Pequenas , Carcinoma de Células Escamosas , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos
12.
Artigo em Chinês | MEDLINE | ID: mdl-30884592

RESUMO

Objective: To investigate the safety and influencing factors of ct-guided percutaneous lung biopsy in pneumoconiosis patients. Methods: The data of 63 patients with pneumoconiosis who underwent ct-guided percutaneous lung biopsy in our hospital were studied to analyze the incidence of complications and influencing factors of percutaneous lung biopsy. Results: 63 cases of pneumoconiosis patients received CT guided percutaneous lung biopsy. There were 29 cases of complications (46.03%) , including 20 pneumothorax (37.75%) , 12 bleeding (19.05%) , and 3 cases of liquid pneumothorax (4.76%) . The single factor chi square analysis showed that there were significant differences in age, depth of focus, puncture position and puncture times (P<0.05) , and there was significant difference between the occurrence of hemorrhage and age, type of focus, size of focus, and the location of puncture site (P<0.05) . The unconditional LogisticL multiple factor regression analysis showed that the depth of the lesion was an independent risk factor for concurrency pneumothorax, and the size of the lesion was an independent risk factor for bleeding. Conclusion: Complications of CT-guided percutaneous pulmonary biopsy are mainly pneumothorax and hemorrhage. Age, focus type, focus size, focus depth, puncture site, and puncture times are all the factors of complications.


Assuntos
Biópsia Guiada por Imagem/efeitos adversos , Pulmão/patologia , Pneumoconiose/patologia , Tomografia Computadorizada por Raios X , Hemorragia/etiologia , Humanos , Pneumotórax/etiologia , Fatores de Risco
13.
Fa Yi Xue Za Zhi ; 35(1): 39-43, 2019 Feb.
Artigo em Inglês, Chinês | MEDLINE | ID: mdl-30896117

RESUMO

OBJECTIVES: To analyze the causes of perinatal death and related factors from the perspective of forensic medicine, and to provide references for reducing perinatal mortality and guidance for forensic identification. METHODS: A retrospective analysis was performed on 102 cases of perinatal autopsy with clinical data from the Department of Forensic Medicine of Chongqing Medical University in 2004-2016. RESULTS: Of the 102 cases of perinatal deaths, 66 (64.71%) were neonatal deaths, 24 (23.53%) were stillborn foetuses, and 12 (11.76%) were stillbirths. Among the 66 neonatal death cases, 39 (59.09%) died within 1 d, 19 (28.79%) died within 1-3 d, and 8 (12.12%) died within >3-7 d of birth. The top 3 causes of neonatal death were pulmonary diseases, congenital malformation, umbilical cord and placental abnormalities. The causes of stillborn foetus and stillbirth were mainly umbilical cord and placental abnormalities, and intrauterine asphyxia. CONCLUSIONS: Pulmonary diseases, umbilical cord and placental abnormalities, and congenital malformations are the main causes of perinatal death. In order to reduce the perinatal mortality, pre-pregnancy examination and prenatal care should be strengthened, and the knowledge of pregnancy care should be popularized.


Assuntos
Causas de Morte , Mortalidade Infantil , Natimorto , Autopsia , Feminino , Humanos , Lactente , Gravidez , Estudos Retrospectivos
14.
Zhonghua Er Ke Za Zhi ; 57(3): 206-210, 2019 Mar 02.
Artigo em Chinês | MEDLINE | ID: mdl-30818898

RESUMO

Objective: To explore the clinical characteristics and treatment of a family with inherited generalized epilepsy with febrile seizures plus (GEFS+) caused by STX1B gene mutation and to review the literature. Methods: Clinical data of a child with GEFS+ and his family members who visited Guangzhou Women and Children Medical Center in August 2017 were collected. DNA samples of the proband and his parents, his grandparents were analyzed by the next-generation sequencing and confirmed by Sanger sequencing. A literature search with "STX1B" as the key word was conducted at PubMed, China National Knowledge Infrastructure and Wanfang databases to include recently published studies (up to May 2018). Results: The proband was a 2-year-old boy who was admitted to our hospital because of frequent epileptic seizures in a month, with focal seizures evolving into the generalized bilateral tonic-clonic epileptic attacks after febrile seizure. His seizures were well controlled by levetiracetam. His father presented febrile seizure in early childhood stage and epilepsy in adult stage, which were under control with lamotrigine. The proband's grandmother had a history of febrile seizure. Other family members had no history of convulsion. Ictal electroencephalogram showed low voltage fast activities (8-10 Hz) originating from the central region of the brain. Heterozygous mutation of STX1B gene (c.705C>G, p. Asn235Lys) was detected in the proband, his father and grandmother. The mutation has not been reported previously. Furthermore, no other family members carried the mutation at c. 705 locus of STX1B gene. No article in Chinese was found, and 4 articles in a language other than Chinese provided the complete case data of 9 mutation loci in 33 patients (4 families and 4 sporadic cases). With this research data (3 cases in 1 family) included, there were 36 cases and 10 mutation sites in STX1B gene. Of these mutations, there were 5 missense mutations, 3 nonsense mutations, 1 insert mutation and 1 deletion mutation; and according to the mutation distribution, there were 4 mutation sites in exon 3, 2 in exon 8, 2 in exon 9, and 1 in exon 1.There was incomplete penetrance in the family, so different types of epileptic attacks occurred among different family members. Conclusions: In this study, a de novo mutation of STX1B gene in a family with GEFS+ was defined, which would expand the gene mutation spectrum and provide basis for family genetic counseling. Clinical heterogeneity was found in this family. Seizures caused by STX1B gene mutation were sensitive to antiepileptic drugs.


Assuntos
Epilepsia Generalizada/genética , Mutação Puntual/genética , Convulsões Febris/genética , Sintaxina 1/genética , Criança , Pré-Escolar , China , Epilepsia Generalizada/diagnóstico , Feminino , Humanos , Masculino , Mutação , Convulsões Febris/diagnóstico
15.
Zhonghua Zhong Liu Za Zhi ; 40(11): 805-811, 2018 Nov 23.
Artigo em Chinês | MEDLINE | ID: mdl-30481929

RESUMO

Objective: To estimate lung cancer incidence and mortality in China using population-based cancer registry data in 2014 collected by National Central Cancer Registry of China (NCCRC). Methods: 449 cancer registries submitted cancer registry data in 2014. All datasets were evaluated and 339 registries' data which met the quality control criteria of NCCRC were analyzed. Numbers of new lung cancer cases and deaths were estimated using calculated incidence and mortality rates and corresponding national population stratified by areas, sexes and age groups. The standard population of Chinese census in 2000 and world Segi' s population were applied to calculate age-standardized incidence and mortality rates in China and worldwide, respectively. Results: A total of 781, 500 new lung cancer cases were diagnosed in 2014. The crude incidence rate was 57.13 per 100 000 and the age-standardized incidence rates by Chinese standard population (ASIRC) and by world standard population (ASIRW) were 36.71 per 100 000 and 36.63 per 100 000, respectively. The cumulative incidence rate (0-74 years old) was 4.50%. Lung cancer was the most common cancer in male (ASIRW: 50.04 per 100 000) and the second most common cancer in female (ASIRW: 23.63 per 100 000). The incidence rates were slightly similar in urban areas and in rural areas (ASIRW: 36.64 per 100 000 vs 36.56 per 100 000). A total of 626 400 lung cancer deaths were reported. The crude mortality rate was 45.80 per 100 000 and the age-standardized mortality rates by Chinese standard population (ASMRC) and by world standard population (ASMRW) were 28.49 per 100 000 and 28.31 per 100 000, respectively. The cumulative mortality rate (0-74 years old) was 3.32%. Lung cancer was the most common cause of cancer deaths both in male (ASMRW: 40.21 per 100 000) and female (ASMRW: 16.88 per 100 000). The mortality rate was slightly higher in rural areas than in urban areas (ASMRW: 28.63 per 100 000 vs 28.04 per 100 000). Both lung cancer incidence and mortality rates increased with age, and the peak age was 80-84 years group. Conclusions: The disease burden of lung cancer is heavy in China. Efficient national health policies and prevention and control strategies against lung cancer should be promoted.


Assuntos
Neoplasias Pulmonares/epidemiologia , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , China/epidemiologia , Feminino , Humanos , Incidência , Lactente , Recém-Nascido , Neoplasias Pulmonares/mortalidade , Masculino , Pessoa de Meia-Idade , Sistema de Registros/estatística & dados numéricos , População Rural/estatística & dados numéricos , Distribuição por Sexo , População Urbana/estatística & dados numéricos , Adulto Jovem
17.
Zhonghua Er Ke Za Zhi ; 56(9): 667-673, 2018 Sep 02.
Artigo em Chinês | MEDLINE | ID: mdl-30180405

RESUMO

Objective: To summarize the clinical features of TBC1D24 gene mutations associated with epilepsy. Methods: All the patients with TBC1D24 gene compound heterozygous mutations were retrospectively collected at the Pediatric Department of Peking University First Hospital from March 2015 to July 2017, and the features of clinical manifestations, electroencephalogram, and neuroimaging were analyzed. Results: Eighteen cases with TBC1D24 gene compound heterozygous mutations were included. The age of seizure onset was 1 day to 8 months, and the median age was 90 days. Seizure types included generalized tonic-clonic seizures (GTCS) in 3 cases, focal seizures in 18 cases, myoclonus in 18 cases, and 17 cases had focal myoclonus and myoclonus status. The focal myoclonus involving one or multiple muscle groups, sometimes migrating and alternating, lasting up to minutes to several days, and could be terminated by sleep or sedation drugs. In 11 cases, myoclonus was exacerbated by fever or infections, and 2 cases developed into myoclonic status during infection, in a severe case with the loss of consciousness. The magnetic resonance imaging (MRI) of seven patients was abnormal, including cerebral atrophy or cerebellar atrophy with abnormal signals. Segment myoclonus was captured in 10 patients, but without correlated epileptiform discharges. There were ten cases had varying degrees of developmental delay, 7 were normal, and one patient died of status epilepticus at the age of 4 months. Three cases had hearing disorders. In the 18 patients, the clinical phenotype of 4 cases consisted of epilepsy of infancy with migrating focal seizures, 2 with progressive myoclonus epilepsies, 1 with Dravet syndrome, 1 with DOORS syndrome, and 3 with unclassified epileptic encephalopathy. Conclusions: The clinical feature of TBC1D24 gene mutation related epilepsy was focal myoclonus, and tended to develop into myoclonic status epilepticus, and could be aggravated by infections, and terminated by sleep or sedation drugs. Mental retardation involved or not, neuroimaging could present with cerebral atrophy or cerebellar atrophy with abnormal signals.


Assuntos
Proteínas de Transporte , Epilepsia , Proteínas de Transporte/genética , Criança , Eletroencefalografia , Epilepsias Mioclônicas , Epilepsia/complicações , Epilepsia/genética , Humanos , Deficiência Intelectual/etiologia , Proteínas de Membrana , Mioclonia/etiologia , Proteínas do Tecido Nervoso , Fenótipo , Estudos Retrospectivos
18.
Microb Pathog ; 123: 111-114, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-29986839

RESUMO

In April 2016, an outbreak emerged in a cultured population of black-spotted pond frog tadpoles in Shuangliu County, China, whereas tadpoles were suffering from substantial mortality (90%). Principal clinical signs of diseased tadpoles were comprised haemorrhage on their body surface, swollen abdomen with yellow ascites, congestion and swelling of the liver. The diseased tadpole's homogenates tissue were inoculated into epithelioma papulosum cyprini (EPC) cells at 25 °C for 4 days which caused typical cytopathic effect, and the viral titer TCID50 reached 107/0.1 mL. In pathogenicity tests, tadpoles were immersed in 2‰ virus fluid for 8 h, the clinical signs were observed similar to those recognized in naturally infected tadpoles and mortality rate were reached up to 80%, which affirms that the virus was the main cause for this disease. In addition, transmission electron microscopy of EPC cells infected with isolated virus reflected that the virus was in a regular hexagon way (shape) with capsule like structure. The diagonal diameter was recorded 135 ±â€¯8 nm, wherever virus particles were arrayed in crystalline manner in the cytoplasm. The electrophoresis of MCP gene PCR-product showed that the samples of diseased tadpoles, aquaculture water source and isolated virus were all positive. The sequence of the isolate revealed more than 99% similarities to ranavirus based on homology and genetic evolution analysis of the whole MCP gene, and the isolate belongs to FV3-like virus group. This study confirmed that ranavirus was the causative agent of this outbreak, and named the virus as Rana nigromaculata ranavirus (RNRV).


Assuntos
Infecções por Vírus de DNA/veterinária , Surtos de Doenças/veterinária , Larva/virologia , Ranavirus/isolamento & purificação , Ranidae/virologia , Animais , Proteínas do Capsídeo/genética , China , Infecções por Vírus de DNA/mortalidade , Infecções por Vírus de DNA/virologia , DNA Viral/genética , Microscopia Eletrônica de Transmissão , Tanques , Ranavirus/classificação , Ranavirus/genética , Carga Viral
19.
Zhonghua Yu Fang Yi Xue Za Zhi ; 52(6): 567-572, 2018 Jun 06.
Artigo em Chinês | MEDLINE | ID: mdl-29886676

RESUMO

Objective: To estimate the incidence trend and change in the age distribution of female breast cancer in cancer registry areas in China from 2000 to 2014. Methods: 22 cancer registries in China with continuous monitoring data from 2000 to 2014 were selected. All datasets were checked and evaluated based on data quality control criteria and were included in the analysis. The cancer registries covered 675 954 193 person-years, including 342 010 930 person-years of male and 333 943 263 person-years of female. Female breast cancer cases (International Classification of Diseases-10(th) Revision: C50) were extracted. Crude incidence rate (CR), age-standardized incidence rate by Chinese standard population(ASIRC), annual percent change (APC), crude and adjusted mean age at onset were calculated. Incidence rates stratified by regions and age groups were calculated. Results: Female breast cancer incidence rate significantly increased from 31.90/100 000 in 2000 to 63.30/100 000 in 2014. Incidence rate increased rapidly from 2000 to 2008 (CR: APC=6.5%, 95%CI: 5.3%-7.8%; ASIRC: APC=4.6%, 95%CI: 3.6%-5.7%). Its increment slowed down from 2008-2014 (CR: APC=3.2%, 95%CI: 1.4%-5.1%; ASIRC: APC=1.4%, 95%CI:-0.1%-2.9%). The crude mean age at onset increased from 54.4 in 2000 to 57.0 in 2014. Adjusted mean age at onset remained around 54.3 in 2014. Crude mean age at onset increased significantly over time in all registry areas (ß=0.192, P<0.001), urban (ß=0.205, P<0.001) and rural (ß=0.092, P=0.014) areas, while adjusted mean age at onset remained stable in all registry areas (ß=0.009, P=0.289), urban (ß=0.017, P=0.139) and rural (ß=-0.054, P=0.109) areas. Conclusion: Female breast cancer incidence rate in China increased from 2000 to 2014. Aging of the population resulted in a significant increase in crude mean age at onset. After age adjustment, no significant changes in age distribution were found.


Assuntos
Neoplasias da Mama/epidemiologia , Distribuição por Idade , China/epidemiologia , Feminino , Humanos , Incidência , Sistema de Registros
20.
Zhonghua Yu Fang Yi Xue Za Zhi ; 52(6): 579-585, 2018 Jun 06.
Artigo em Chinês | MEDLINE | ID: mdl-29886678

RESUMO

Objective: To analyze the incidence trend and mean age at diagnosis for lung cancer in cancer registration areas of China from 2000 to 2014. Methods: The data of lung cancer incidence used in this study were from 22 registries submitted to National Central Cancer Registry with continuous data during 2000 and 2014, covering about 621 593 469 person-years. All cancer cases were coded as C33-C34 according to the International Classification of Diseases-10(th) Revision (ICD-10) were extracted for this analysis with about 343 663 patients. The incidence of different sex and regional population, the standardized incidence rate by Chinese population, the average annual change percentage (AAPC), the mean age and adjusted mean age of cancer incidence were calculated. The incidence of each year was described by regional and age groups, and the linear regression model was employed to analyze the relationship between mean age at onset and year. Results: The crude incidence rate and age-standardized incidence rate (ASR) of lung cancer for men in cancer registry areas in 2000 were 56.98 per 100 000 and 48.43 per 100 000, respectively. The rates were 89.51 per 100 000 and 46.85 per 100 000 in 2014, respectively. For women in the same areas, the rates were 27.77 per 100 000 and 20.17 per 100 000 in 2000; while 51.31 per 100 000 and 25.44 per 100 000 in 2014, respectively. The crude incidence rate increased along with the age. In 2000-2014, the trend of crude rate and ASR of lung cancer were significantly increased (CR: AAPC=3.8%, 95%CI: 3.5%-4.1%; ASR: AAPC=0.4%, 95%CI: 0.2%-0.7%). The rise of crude rate in females was higher than that in males (Male: AAPC=3.5%, 95%CI: 3.2%-3.7%; Female: AAPC=4.5%, 95%CI: 4.1%-5.0%). However, the rise of the ASR declined for both male and female (Male: AAPC=-0.2%, 95%CI:-0.4%-0.0%; Female: AAPC=1.4%, 95%CI: 1.0%-1.9%). The average age at diagnosis of lung cancer in rural areas was 64.35 years old in 2000, and increased to 65.97 years old in 2014 (ß=0.11, P<0.001), while adjusted mean age at onset remained stable in all areas and urban areas (P>0.05). And the average age at onset increased significantly over time in male (ß=-0.02, P=0.014), which was not seen in female (ß=-0.01, P=0.522). Conclusion: The crude incidence rate of lung cancer in cancer registry areas in China increased slowly during 2000-2014; and the standardized average age of male at diagnosis decreased slightly, while the age in rural areas increased during 2000-2014. Lung cancer will still be the focus of cancer prevention and control in the near future.


Assuntos
Neoplasias Pulmonares/epidemiologia , Idade de Início , Idoso , China/epidemiologia , Feminino , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Sistema de Registros , População Rural/estatística & dados numéricos , Distribuição por Sexo , População Urbana/estatística & dados numéricos
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