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1.
Eur Rev Med Pharmacol Sci ; 24(2): 639-646, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-32017004

RESUMO

OBJECTIVE: MicroRNAs (miRNAs) are endogenous, non-coding RNAs, which exert crucial functions in regulating biological progressions. Previous studies have demonstrated the anti-tumor effect of miRNA-215-5p. However, its specific role in influencing the progression of prostate cancer (PCa) remains unclear. This study aims to uncover the regulatory effect of miRNA-215-5p on the metastasis and prognosis of PCa. PATIENTS AND METHODS: MiRNA-215-5p levels in collected PCa tissues (n=52) and paracancerous tissues (n=52) were determined by quantitative Real Time-Polymerase Chain Reaction (qRT-PCR). The relationship between miRNA-215-5p level and pathological indexes, as well as overall survival of PCa patients, was analyzed. Regulatory effects of miRNA-215-5p on proliferative and metastatic capacities of LNCaP and DU-145 cells were evaluated through cell counting kit-8 (CCK-8) and transwell assay, respectively. Bioinformatics prediction was performed to search for the target genes of miRNA-215-5p and PGK1 was selected. The biological role of PGK1 in the progression of PCa was finally clarified by a series of rescue experiments. RESULTS: MiRNA-215-5p was lowly expressed in PCa tissues and cell lines. Low level of miRNA-215-5p predicted poor prognosis in PCa patients. The silence of miRNA-215-5p enhanced viability, migratory, and invasive capacities of LNCaP cells, while the overexpression of miRNA-215-5p yielded the opposite trends in DU-145 cells. PGK1 was predicted to be the target of miRNA-215-5p. PGK1 was upregulated in PCa tissues and cell lines and its high level predicted poor prognosis of PCa. Moreover, PGK1 level was negatively correlated to that of miRNA-215-5p in PCa tissues. PGK1 was able to reverse the regulatory effects of miRNA-215-5p on metastatic potentials of PCa cells. CONCLUSIONS: Downregulated miRNA-215-5p in PCa is closely related to distant metastasis and poor prognosis of affected patients. MiRNA-215-5p alleviates the malignant progression of PCa by targeting and downregulating PGK1.

2.
Biomed Res Int ; 2020: 3697342, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32090082

RESUMO

As the extant representatives of the basal chordate lineage, amphioxi (including the genera Branchiostoma, Asymmetron and Epigonichthys) play important roles in tracing the state of chordate ancestry. Previous studies have reported that members of the Branchiostoma species have similar morphological phenotypic characteristics, but in contrast, there are high levels of genetic polymorphisms in the populations. Here, we resequenced 20 Branchiostomabelcheri genomes to an average depth of approximately 12.5X using the Illumina HiSeq 2000 platform. In this study, over 52 million variations (~12% of the total genome) were detected in the B. belcheri population, and an average of 12.8 million variations (~3% of the total genome) were detected in each individual, confirming that Branchiostoma is one of the most genetically diverse species sequenced to date. Demographic inference analysis highlighted the role of historical global temperature in the long-term population dynamics of Branchiostoma, and revealed a population expansion at the Greenlandian stage of the current geological epoch. We detected 594 Single nucleotide polymorphism and 148 Indels in the Branchiostoma mitochondrial genome, and further analyzed their genetic mutations. A recent study found that the epithelial cells of the digestive tract in Branchiostoma can directly phagocytize food particles and convert them into absorbable nontoxic nutrients using powerful digestive and immune gene groups. In this study, we predicted all potential mutations in intracellular digestion-associated genes. The results showed that most "probably damaging" mutations were related to rare variants (MAF<0.05) involved in strengthening or weakening the intracellular digestive capacity of Branchiostoma. Due to the extremely high number of polymorphisms in the Branchiostoma genome, our analysis with a depth of approximately 12.5X can only be considered a preliminary analysis. However, the novel variant dataset provided here is a valuable resource for further investigation of phagocytic intracellular digestion in Branchiostoma and determination of the phenotypic and genotypic features of Branchiostoma.

3.
Zhonghua Er Ke Za Zhi ; 58(2): 118-122, 2020 Feb 02.
Artigo em Chinês | MEDLINE | ID: mdl-32102148

RESUMO

Objective: To summarize the clinical phenotypes of epilepsy in patients with GABRA1 gene variants. Methods: A total of 11 epileptic patients (4 boys and 7 girls) who were treated in the Department of Pediatrics, Peking University First Hospital from March 2016 to July 2019 and detected with GABRA1 gene heterozygous pathogenic variants by targeted next-generation sequencing were enrolled. The features of clinical manifestations, electroencephalogram (EEG), and neuroimaging were analyzed retrospectively. Results: A total of 11 epileptic patients carried GABRA1 gene pathogenic variants, of whom 10 were de novo variants and the other one was inherited from the patient's mother. Two patients had the same variants. Six variants were novel. Ages at seizure onset ranged from 3 to 14 months, and the median age was 8 months. The seizure was first observed within 1 year in 10 patients and beyond 1 year of age in 1 patient. Multiple seizure types were observed, including focal seizures in 10 patients, generalized tonic clonic seizures (GTCS) in 3 patients, myoclonic seizures in 3 patients, and epileptic spasm in 2 patients. There were 5 patients with multiple seizure types. Sensitivity to fever was observed in 9 patients, among whom 6 patients had a history of status epilepticus. Two patients had photoparoxysmal response. Five patients had abnormal EEG background, and 6 patients had abnormal discharges in EEG during interictal phase. Brain magnetic resonance imaging (MRI) was normal in all patients. Developmental delay in various degrees was present in 9 patients. Among the 11 patients, Dravet syndrome was diagnosed in 5 patients, West syndrome in 2 patients, undiagnosed early-onset epileptic encephalopathy in 1 patient, and focal epilepsy in the other 3 patients. The ages at the last follow-up ranged from 8 months to 12 years. During follow-up, 8 patients were seizure-free for 6 months to 8 years, and 1 patient had discontinuation of medication. Conclusions: In epilepsy associated with GABRA1 gene variants, de novo pathogenic variants are more common than inherited. Most epilepsy caused by GABRA1 gene variants occurs in infancy. Most patients have multiple seizures and focal seizures are common. Most patients have a comparatively favorable prognosis, but they may still have varied degrees of developmental delay.


Assuntos
Encéfalo/diagnóstico por imagem , Deficiências do Desenvolvimento/genética , Epilepsia/diagnóstico , Epilepsia/genética , Convulsões/etiologia , Criança , Pré-Escolar , Deficiências do Desenvolvimento/etiologia , Eletroencefalografia , Epilepsia/diagnóstico por imagem , Feminino , Humanos , Lactente , Masculino , Neuroimagem , Fenótipo , Receptores de GABA-A , Estudos Retrospectivos , Espasmos Infantis/diagnóstico
4.
Zhonghua Yan Ke Za Zhi ; 56(1): 9-12, 2020 Jan 11.
Artigo em Chinês | MEDLINE | ID: mdl-31937057

RESUMO

Primary angle-closure glaucoma (PACG) is the most common type of glaucoma in China. In recent years, lens extraction has gradually become one of the main means of PACG treatment. However, there are still some problems in specific applications. In this article, we analyze the problems and misunderstandings in lens extraction for treatment of PACG in China at present, hoping to achieve reasonable application and better serve patients with glaucoma. (Chin J Ophthalmol, 2020, 56: 9-12).


Assuntos
Catarata/complicações , Glaucoma de Ângulo Fechado/cirurgia , Facoemulsificação/métodos , China , Glaucoma de Ângulo Fechado/diagnóstico , Humanos , Pressão Intraocular/fisiologia , Implante de Lente Intraocular , Lentes Intraoculares , Facoemulsificação/efeitos adversos , Resultado do Tratamento
5.
Zhonghua Yu Fang Yi Xue Za Zhi ; 53(12): 1290-1295, 2019 Dec 06.
Artigo em Chinês | MEDLINE | ID: mdl-31795588

RESUMO

Objective: To systematically review the structure and content of physical activity questionnaires for children and adolescents and assess the overall validity and reliability of the existing international questionnaires in the last 10 years. Methods: Search terms, including"Physical Activity" AND "Questionnaire" OR "Self-report" OR "Recall" AND "Child*" OR "Adolescen*" OR "Youth" AND 'Valid*' OR "Reliab*" OR "Reproducib*" OR "Sensitiv*" OR "Responsiv*", were searched for evaluation studies on physical activity questionnaires for children and adolescents in PubMed/Medline and EMBASE database from January 2008 to December 2018. The quality of eligible literature was assessed by using the consensus-based standards for the selection of health status measurement instruments (COSMIN). Results: A total of 37 articles containing 36 physical activity questionnaires in 7 989 participants were included. There were 68 studies on the assessment of the validity and reliability of assorted physical activity questionnaires, 45 studies for validity and 23 for reliability. The median Spearman correlation coefficients in validity studies were 0.28 for moderate-to-vigorous intensity physical activity, 0.15 for moderate-intensity physical activity, 0.27 for vigorous-intensity physical activity and 0.31 for physical activity energy expenditure. The median reliability correlation coefficients were 0.32 for sedentary behaviors, 0.53 for light-intensity physical activity, 0.80 for moderate-to-vigorous intensity physical activity, 0.54 for moderate-intensity physical activity and 0.69 for vigorous-intensity physical activity. Conclusion: The reliability of physical activity questionnaires measured moderate-to-vigorous intensity physical activity for children and adolescents is acceptable, but the validity is low.


Assuntos
Exercício , Nível de Saúde , Inquéritos e Questionários/normas , Adolescente , Criança , Humanos , Reprodutibilidade dos Testes , Autorrelato
6.
Zhonghua Wai Ke Za Zhi ; 57(12): 917-920, 2019 Dec 01.
Artigo em Chinês | MEDLINE | ID: mdl-31826596

RESUMO

Objective: To examine the effectiveness of non-operative of colonic fistula following acute pancreatitis. Methods: Retrospective analysis of 354 patients with acute pancreatitis who were admitted to Department of Hepatobiliary Surgery of Chinese People's Liberation Army General Hospital from January 2013 to December 2018. Age of the patients was (46±14) years (range: 14-85 years); 249 cases (70.3%) were males. There were 41 cases of acute edematous pancreatitis and 313 cases of acute necrotising pancreatitis. Two hundred and fifteen cases were diagnosed as moderate severe acute pancreatitis and 139 were diagnosed as severe acute pancreatitis. Among 313 cases of acute necrotising pancreatitis, 62 cases underwent non-surgical treatment, 251 cases underwent surgical treatment in which 218 of minimal access retroperitoneal pancreatic necrosectomy underwent percutaneous nephroliguectomy with peripancreatic necrotic tissue removal technique. Results: There were 15 cases of colon fistula following acute necrotising pancreatitis, and the incidence rate was 4.2%(15/354). There were 7 males and 8 females, with age of (39±8) years (range: 27 to 50 years). The median interval between acute pancreatitis onset and diagnosis of colonic fistula was 71 days(27-134) days. Two cases occurred at the hepatic flexure of the colon, 4 cases at transverse colon, and 9 cases at splenic flexure of colon. Of the 354 patients, 39 cases died and the mortality was 11.0%. Two patients underwent laparotomy, and one of them died. The remaining 13 patients underwent non-surgical treatment and were discharged. Conclusion: Acute pancreatitis with colonic fistula can be treated with non-surgical treatment and can achieve good prognosis.


Assuntos
Doenças do Colo/terapia , Fístula Intestinal/terapia , Pancreatite/terapia , Doença Aguda , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Doenças do Colo/etiologia , Feminino , Humanos , Fístula Intestinal/etiologia , Masculino , Pessoa de Meia-Idade , Pancreatite/complicações , Pancreatite Necrosante Aguda/complicações , Pancreatite Necrosante Aguda/terapia , Prognóstico , Estudos Retrospectivos , Adulto Jovem
7.
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
8.
Zhonghua Jie He He Hu Xi Za Zhi ; 42(9): 694-699, 2019 Sep 12.
Artigo em Chinês | MEDLINE | ID: mdl-31484244

RESUMO

Objective: To investigate the incidence of venous thromboembolism (VTE) in lung transplant (LT) recipients. Methods: The clinical data on 124 consecutive patients who underwent lung transplant at Lung Transplantation Center of China-Japan Friendship Hospital from March 2017 to September 2018 were retrospectively collected. Deep venous thrombosis (DVT) was ascertained by vascular ultrasound. Pulmonary embolism (PE) was diagnosed by either chest computed tomography pulmonary angiogram or ventilation/perfusion scan. The risk factors in those patients with postoperative VTE were studied. Results: A total of 124 lung transplant recipients including 78 single lung transplant recipients (62.9%) and 46 bilateral lung transplant recipients(37.1%) were enrolled. Preoperative and postoperative prophylactic anticoagulant was used in 52 patients(52/124, 41.9%) and 69 patients(69/124, 55.6%) respectively. Thirty-two patients developed postoperative VTE among 124 consecutive patients. The overall incidence rate of VTE among 124 LT recipients was 25.8%. The median time to VTE episode following lung transplant was 22.5 days (range 4-295 days). The percentage of DVT in VTE was 93.8%(30/32), involving 1-8 (2.83±1.86) veins. And 60.0% of DVT was from lower extremities and 56.7% located in upper extremities (P>0.05). Four patients (4/32,12.5%) had PE episodes, and half of them suffered from only PE without DVT. The use of extracorporeal membrane oxygenation (ECMO) in 32 patients with VTE was 90.6% (29/32), which was significantly higher than that without VTE (64/92,69.6%, P=0.033). However, there was no difference in the use of peripherally inserted central catheter (PICC) between two groups (96.9% vs 81.5%, P=0.067). Resolution of VTE was successfully accomplished by anticoagulant therapy with long-term use of low molecular weight heparin in 30 patients (93.7%) and followed by oral warfarin in 2 patients (6.3%). Three months follow-up data after anticoagulant therapy showed that total and partial vascular recanalization rate was 65.6%(21/32) and 34.4%(11/32), respectively. Despite anticoagulation-related bleeding complications in three patients, no serious consequences occurred. Conclusions: VTE was frequent in LT recipients. It was speculated that ECMO utilization may be a major risk factor for high incidence of VTE in LT recipients. Aggressive VTE screening/treatment protocols were suggested to be implemented in LT recipients.


Assuntos
Transplante de Pulmão/efeitos adversos , Complicações Pós-Operatórias , Tromboembolia Venosa/epidemiologia , Adulto , Anticoagulantes/administração & dosagem , China/epidemiologia , Humanos , Incidência , Embolia Pulmonar/epidemiologia , Embolia Pulmonar/etiologia , Estudos Retrospectivos , Fatores de Risco , Resultado do Tratamento , Tromboembolia Venosa/diagnóstico , Tromboembolia Venosa/etiologia
9.
Zhonghua Wai Ke Za Zhi ; 57(8): 596-600, 2019 Aug 01.
Artigo em Chinês | MEDLINE | ID: mdl-31422629

RESUMO

Objective: To investigate the microbiological test, antibiotic sensitivity and surgical treatment of periprosthetic joint infection(PJI) cases in post total hip arthroplasty (THA) and total knee arthroplasty (TKA) patients. Methods: A retrospective cross-sectional survey was conducted on 318 patients who underwent THA or TKA in 9 clinical centers in Beijing from January 2014 to December 2016.The data of microbiology, antibiotic sensitivity and surgical treatment were collected.The average age of patients was (62.3±13.1) years old (range: 21-86 years old), including 145 males and 173 females.The body mass index was (25.6±3.8) kg/m (2) (range: 15.6-38.1 kg/m(2)). Results: In total, 318 patients had microorganisms detected by periprosthetic tissue culture or synovial fluid culture, 209 cases (65.7%) had Gram-positive bacteria, 29 cases (9.1%) had Gram-negative bacteria, 10 cases (3.1%) had fungi, 3 cases (0.9%) had non-tuberculous mycobacteria, 72 cases (22.6%) were negative, 69 cases (21.7%) had methicillin-resistant bacteria. The antibiotic sensitivity results showed that the overall resistance rate of penicillin, cefuroxime, amoxicillin+clavulanic acid was 79.9%, 69.9%, and 68.1%, respectively; meropenem, vancomycin, and linezolid resistance rate was 0. For the treatment methods of hip and knee PJI, two-stage revision surgery acounted for 72.9% (108/148) and 64.1% (109/170), respectively. One-stage revision surgery accounted for 21.6% (32/148) and 7.6% (13/170), and open debridement surgery accounted for 4.7%(7/148) and 26.4% (45/170). Conclusions: Gram-positive bacteria was still the main pathogen of PJI.The methicillin-resistant bacteria and rare bacteria should be payed attention to. The Majority of hip and knee PJI cases were treated by two-stage revision surgery.


Assuntos
Artroplastia de Quadril/efeitos adversos , Artroplastia do Joelho/efeitos adversos , Infecções Relacionadas à Prótese/microbiologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Pequim , Estudos Transversais , Resistência Microbiana a Medicamentos , Feminino , Humanos , Masculino , Testes de Sensibilidade Microbiana , Pessoa de Meia-Idade , Infecções Relacionadas à Prótese/tratamento farmacológico , Infecções Relacionadas à Prótese/etiologia , Infecções Relacionadas à Prótese/cirurgia , Reoperação , Estudos Retrospectivos , Adulto Jovem
10.
Artigo em Chinês | MEDLINE | ID: mdl-31446728

RESUMO

Objective:The aim of this study is to investigate the use of CT, magnetic resonance imaging (MRI), functional magnetic resonance (fMRI) and electrical evoked auditory brainstem response in children with cochlear nerve deficiency (CND) before cochlear implantation (CI) (electrically evoked auditory brain stem response, EABR) evaluated auditory pathway, auditory cortex function, and cochlear nerve function. Method:Of 6 children with bilateral profound sensorineural hearing loss, bilateral internal auditory meatus stenosis was diagnosed by CT as in 4 cases and unilateral internal auditory meatus stenosis in 1 case. In 3 cases, oblique sagittal MRI reconstruction of the internal auditory meatus showed only facial nerve and vestibular nerve existence. 6 cases were diagnosed as CND by imaging, among which underwent fMRI and EABR in 3 cases, respectively. All the children received unilateral CI and were followed up for at least 1 year after hearing and speech rehabilitation. Result:fMRI was examed in 3 cases with CND. It showed that the right auditory cortex was activated in 1 case after sound given to the left ear but no activation was found in the left cortex when sound given to the right ear. 1 case showed activation in bilateral transverse temporal gyrus while sound was given to the left, right and both ears at 2000Hz. Another case had no activation in both auditory cortex. EABR detection elicited V wave in 2 of 3 cases. 6 children received audiological and speech evaluation 1 month, 6 and 12 months after CI. Among them, the hearing level was improved within 6 months after surgery in 4 cases, and the threshold of sound field was (48.15±6.60) dB HL, MAIS and CAP scores were improved. However, SIR score improvement is limited in 3 cases. The hearing level was improved in 1 case, but speech rehabilitation was poor mainly due to the older age. Conclusion:Preoperative comprehensive application of imaging and electrophysiological evaluation of children with CND can more accurately assess the integrity of the auditory pathway and understand the function of the cochlear nerve. It has important reference significance for whether or not to perform surgery. There was a significant difference in auditory speech rehabilitation after CND in children with CND.


Assuntos
Córtex Auditivo/diagnóstico por imagem , Implante Coclear , Implantes Cocleares , Nervo Coclear/fisiopatologia , Perda Auditiva Neurossensorial , Criança , Potenciais Evocados Auditivos do Tronco Encefálico , Audição , Humanos , Imagem por Ressonância Magnética
11.
Eur Rev Med Pharmacol Sci ; 23(3 Suppl): 192-200, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31389609

RESUMO

OBJECTIVE: To explore the influences of high glucose on the proliferation and apoptosis of prostate cancer cells and analyze its possible mechanism of action. MATERIALS AND METHODS: Human prostate cancer cell line LNCaP was divided into control group, mannitol group, and high glucose group. Then, the proliferation in each group was detected via methyl-thiazolyl-tetrazolium (MTT) assay. Hoechst staining assay was performed to determine the apoptosis level in each group. Western blotting was employed to measure the expression levels of apoptosis-related proteins and nuclear factor erythroid 2-related factor 2 (Nrf2), heme oxygenase-1 (HO-1), and γ-glutamylcysteine synthetase (γ-GCS) proteins. The cellular reactive oxygen species (ROS) level was measured through 2,7-dichloro-dihydro-fluorescein diacetate (DCFH-DA) assay. Enzyme-linked immunosorbent assay (ELISA) was carried out to detect the content of lactate dehydrogenase (LDH) and inflammatory factors. RESULTS: High glucose significantly promoted the proliferation of prostate cancer cells LNCaP (p<0.01) and increased the apoptosis level of cells (p<0.01). In high glucose group, the expression level of Caspase-3 protein was overtly increased (p<0.01), while that of B-cell lymphoma-2 (Bcl-2)/Bcl-2 associated X protein (Bax) was significantly decreased (p<0.01). High glucose group had clearly increased the content of ROS (p<0.01), LDH (p<0.01), and interleukin-6 (IL-6) (p<0.01), but decreased the content of IL-10 (p<0.01). High glucose notably lowered the protein expression levels of Nrf2, HO-1, and γ-GCS in the cells (p<0.01). CONCLUSIONS: High glucose represses the activation of the Nrf2/anti-oxidation response element (ARE) signaling pathway in prostate cancer cells and increases the content of ROS, IL-6, and the expression of apoptotic proteins in the cells, thus promoting the apoptosis of prostate cancer cells.

12.
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
13.
Zhonghua Yi Xue Za Zhi ; 99(24): 1848-1852, 2019 Jun 25.
Artigo em Chinês | MEDLINE | ID: mdl-31269578

RESUMO

Objective: To analyze the incidence and influencing factors of venous thromboembolism (VTE) after lung transplantation. Methods: This study retrospectively analyzed the clinical data of 375 lung transplant patients from January 2015 to December 2017 in Wuxi People's Hospital. Every patient was classified into the VTE group or the non-VTE group according to whether the patient had VTE or not. Basic information like age, type of surgical procedure etc. was compared between two groups. The prevention and treatment of VTE between two groups were also compared. Furthermore, multivariate Logistic regression analysis was used to analyze the influence of related factors on the occurrence of postoperative VTE. Deep venous thrombosis (DVT) was diagnosed with vascular ultrasonography, and pulmonary thromboembolism (PTE) was diagnosed with CT pulmonary angiogram, nuclear ventilation/perfusion scanning, or pulmonary angiography. Results: This study included 316 lung transplant patients. VTE occurred in 19 patients (6.0%) during perioperative and follow-up period. The age of the VTE group was significantly higher than that of the non-VTE group (63.4±11.9 vs 54.3±13.0, P=0.003). The proportion of single lung transplantation in the VTE group was significantly higher than that in the non-VTE group (78.9% vs 48.5%, P=0.010). The incidence of VTE in patients without prevention was significantly higher than that in patients with prevention (15.0% vs 1.9%, P<0.001). Single lung transplantation (OR=4.425, P=0.018), duration in intensive care unit (ICU) (OR=1.396, P=0.001) and age (OR=1.080, P=0.005) were independent risk factors for VTE after lung transplantation. Conclusions: The incidence of VTE after lung transplantation is high. Single lung transplantation, prolonged duration of ICU stay and advanced age increase the risk of VTE after lung transplantation.


Assuntos
Transplante de Pulmão , Embolia Pulmonar , Tromboembolia Venosa , Humanos , Incidência , Transplante de Pulmão/efeitos adversos , Estudos Retrospectivos , Fatores de Risco , Tromboembolia Venosa/etiologia
14.
Zhonghua Fu Chan Ke Za Zhi ; 54(6): 375-380, 2019 Jun 25.
Artigo em Chinês | MEDLINE | ID: mdl-31262121

RESUMO

Objective: To investigate the relationship between the previous cesarean scar thickness, previous cesarean scar defect and the occurrence of uterine rupture for pregnancy women after previous cesarean section and to predict the occurrence of uterine rupture in the third trimester for pregnancy women after previous cesarean section by analyzing the lower uterine segment (LUS) situation or quantitatively measure LUS myometrium thickness. Methods: A total of 154 pregnant women who have a prior cesarean from January 2015 to March 2016 were selected, all of them regularly did the prenatal examination in the pregnancy period and finally gave birth in hospital. By the transvaginal sonograph, the LUS myometrium thickness (transverse and longitudinal thickness) and the size of the previous cesarean scar defect were measured in the first trimester, the LUS myometrium thickness (longitudinal thickness) and qualitatively analysis LUS condition were measured in the third trimester. They were divided into two groups according to the pregnancy outcome: uterine rupture group (found in the cesarean operation or during the pregnancy) and without uterine rupture group (including the vaginal delivery women and those without uterine rupture in the cesarean operation period). The sensitivity and specificity of LUS myometrium thickness in the first trimester and the qualitative analysis LUS situation, the quantitative measurement of LUS myometrium thickness in the third trimester were compared in the prediction of occurrence of uterine rupture (dehiscence or complete rupture). Results: The group without uterine rupture included 134 women (6 vaginal delivery and 128 cesarean delivery), and the group with uterine rupture included 20 women (all of them cesarean delivery). The LUS myometrium thickness in the third trimester in the group without uterine rupture was (1.6±0.5) mm, and was (1.1±0.7) mm in the uterine rupture group (P= 0.004). There were no significant difference between two groups in the mean value of age, height, weight, the interdelivery interval, the LUS myometrium thickness (transverse and longitudinal thickness) in the first trimester. Qualitative analysis of LUS condition had higher specificity (99%), higher positive predictive value (92%), higher negative predictive value (94%) and slightly lower sensitivity (60%) than quantitative measure of LUS myometrium thickness in predicting uterine rupture. Conclusions: Measurement of the LUS myometrium thickness in the first trimester is helpful for predicting the occurrence of uterine rupture, so it is not necessary to terminate the pregnancy because of the thin LUS or the little prior cesarean scar defect in the first trimester. However it should be paid close attention to the LUS situation during the whole gestation. Qualitatively analyzing LUS situation is more meaningful than quantitatively measuring LUS myometrium thickness in predicting the uterine rupture in the third trimester.


Assuntos
Cicatriz , Miométrio/diagnóstico por imagem , Ruptura Uterina/prevenção & controle , Útero/diagnóstico por imagem , Cesárea , Feminino , Humanos , Gravidez , Ultrassonografia Pré-Natal , Ruptura Uterina/epidemiologia , Nascimento Vaginal Após Cesárea
15.
Artigo em Chinês | MEDLINE | ID: mdl-31315354

RESUMO

Objective: To discuss the benefit of using transmastoid slotted labyrinthotomy approach (TSLA) and customized electrode for common cavity deformity (CCD) patients, and to evaluate the audiological outcomes. Methods: A retrospective analysis of the intraoperative monitoring data and postoperative auditory outcomes of 10 CCD cases who received cochlear implantation in Beijing Tongren Hospital,Capital Medical University from April 2016 to December 2017, was conducted using TSLA and customized electrod as a test group.At the same time, 10 cases of age and gender matched children with severe or severe sensorineural hearing loss and normal inner ear structures were recorded as a control group. Four questionnaires were collected from the two groupspre-operative, 6 months and 1 year after start-up. The Wilcoxon signed rank sum test was used to compare the scores of different time points. Rank sum test of two independent samples was used to compare the scores between different groups. Results: None of the patients exhibited CSF leakage or facial paralysis after operation. The average impedance of 8 CCD children in the experimental group was below 5 kΩ. The total extraction rate of auditory neural response telemetry (ART) of all stimulating electrodes was 55% (33/60), and the amplitude of the electricity induced complex action potential (ECAP) of electrodes at different positions ranged from 50.69 to 170.3 µV.The average surgical time of the TSLA group was 46.4 min, shorter than the traditional approach.There was significant difference between the scores of pre-operative, 6 months and 1 year after start-up for the TSLA group(categories of auditory performance,CAP: 2.0 (2.0,3.0) vs. 4.0 (3.8,4.0) , Z=-3.109, P=0.002; speech intelligibility rating,SIR: 2.0 (2.0,2.3) vs. 3.0 (2.8,4.0) , Z=-2.952, P=0.003; meaningful use of speech scale,MUSS: 4.0 (3.3,6.0) vs. 9.0 (6.0,11.8) , Z=-3.421, P=0.001; meaningful auditory integration scale, MAIS or infant-toddler and meaningful auditory integration scale, IT-MAIS: 5.5 (3.8,9.0) vs. 15.5 (10.8,18.5) , Z=-3.522, P=0.000 for the latter two).In addition, The scores of the TSLA group were significantly worse than the control group at 6 months and 1 year after start-up.The high-resolution CT scan showed good adhesion of the electrodes without displacementone week and one year after surgery. Conclusions: For CCD patients, TSLA and customized electrode is recommended due to lower surgical difficulty and post-operative risk, shortened surgical time; Intraoperative ART monitoring can be used to determine the integrity of the auditory pathway. Children with common cavity deformity have a longer period of auditory rehabilitation, and the individual differences in speech rehabilitation are significantly different, which is significantly worse than those with normal structure.


Assuntos
Implante Coclear/métodos , Orelha Interna/cirurgia , Perda Auditiva Neurossensorial/cirurgia , Pré-Escolar , Implante Coclear/reabilitação , Implantes Cocleares , Orelha Interna/fisiopatologia , Eletrodos Implantados , Perda Auditiva Neurossensorial/etiologia , Perda Auditiva Neurossensorial/reabilitação , Humanos , Lactente , Processo Mastoide/cirurgia , Monitorização Intraoperatória , Estudos Retrospectivos , Inteligibilidade da Fala , Percepção da Fala , Resultado do Tratamento
16.
QJM ; 112(12): 900-906, 2019 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-31359051

RESUMO

BACKGROUND: Older age, renal dysfunction and low left ventricular ejection fraction are accepted predictors of poor outcome in patients with infective endocarditis (IE). This study aimed to investigate the prognostic significance of the age, creatinine and ejection fraction (ACEF) score in IE. METHODS: The study involved 1019 IE patients, who were classified into three groups according to the tertiles of ACEF score: low ACEF (<0.6, n = 379), medium ACEF (0.6-0.8, n = 259) and high ACEF (>0.8, n = 381). The ACEF score was calculated as follows: age (years)/ejection fraction (%)+1 (if serum creatinine value was >2 mg/dL). The relationship between ACEF score and adverse events was analyzed. RESULTS: In-hospital mortality was 8.2%, which increased with the increase of ACEF score (4.2% vs. 5.0% vs. 14.4% for the low-, medium- and high-ACEF groups, respectively; P < 0.001). ACEF score had a good discriminative ability for predicting in-hospital death [areas under the curve (AUC), 0.706, P < 0.001]. The predictive value of ACEF score in surgical treatment was significantly higher than in conservative treatment for predicting in-hospital death (AUC, 0.812 vs. 0.625; P = 0.001). Multivariable analysis revealed that ACEF score was independently associated with in-hospital mortality (adjusted odds ratio, 2.82; P < 0.001) and long-term mortality (adjusted hazard ratio, 2.51; P < 0.001). CONCLUSION: ACEF was an independent predictor for in-hospital and long-term mortality in IE patients, and it could be considered as a useful tool for risk stratification. ACEF score was more suitable for surgical patients in terms of assessing the risk of in-hospital mortality.

17.
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
18.
Zhonghua Yan Ke Za Zhi ; 55(5): 347-354, 2019 May 11.
Artigo em Chinês | MEDLINE | ID: mdl-31137146

RESUMO

Objective: To evaluate the outcomes of trabeculectomy combined with a new prophylactic sclerotomy in late stage juvenile open angle glaucoma (JOAG) and primary congenital glaucoma (PCG) patients at high risks of intraoperative and postoperative suprachoroidal hemorrhage (SCH). Method: A retrospective case series study. Thirty-three eyes of 28 JOAG patients and 15 eyes of 12 PCG patients with high risk factors for severe choroidal effusion or SCH were enrolled from November 2006 to April 2012 at Eye and ENT Hospital of Fudan University. The standard trabeculectomy accompanied by prophylactic sclerotomy was performed (video attached). Ophthalmic examinations were performed before and after the surgery. Surgical outcome was assessed in terms of intraocular pressure (IOP), best-corrected visual acuity, optic nerve head cup disc ratio, visual field, and complications. All patients were followed up for at least 1 year. Complete success was defined as an IOP ≥6 mmHg (1 mmHg=0.133 kPa) but ≤18 mmHg without medication. Qualified success was defined as an IOP ≥6 mmHg but ≤18 mmHg with local application of medications. Kaplan-Meier survival curves were drawn for the success rate calculation. Results: The mean age of all 40 patients was (13.2±9.4) years old. And among them, 22 patients were male and 18 patients were female. The mean follow-up time was (31.8±15.9) months. At the postoperative 3(rd) year, the complete success rate was 75.8%, and the qualified success rate was 90.0%. In our case series, one eye had expulsive SCH intraoperatively and two eyes had delayed SCH postoperatively. All of them were successfully saved without further surgery and with no significant damage to visual function. Conclusion: Trabeculectomy combined with prophylactic sclerotomy is a promising technique developed to control IOP in late stage JOAG and PCG patients, which provides a potential intervention to reduce severe consequences of massive choroidal effusion or SCH. (Chin J Ophthalmol, 2019, 55: 347-354).


Assuntos
Glaucoma de Ângulo Aberto/cirurgia , Glaucoma/cirurgia , Esclerostomia/métodos , Trabeculectomia/métodos , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Seguimentos , Glaucoma/congênito , Glaucoma/fisiopatologia , Glaucoma de Ângulo Aberto/fisiopatologia , Humanos , Pressão Intraocular , Complicações Intraoperatórias , Masculino , Complicações Pós-Operatórias , Estudos Retrospectivos , Resultado do Tratamento , Acuidade Visual , Adulto Jovem
19.
Zhonghua Er Ke Za Zhi ; 57(5): 384-387, 2019 May 02.
Artigo em Chinês | MEDLINE | ID: mdl-31060135
20.
Lett Appl Microbiol ; 68(6): 553-561, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30835854

RESUMO

Desulfovibrio spp. is predominant member of sulphate-reducing bacteria in human gut microbiota. Previous studies indicated that the isolation of Desulfovibrio strains from human faecal samples is very important to study the roles of human intestinal Desulfovibrio spp. in maintaining healthy states or causing diseases, as well as defining their biological characteristics. However, there are very few reports describing the isolation of Desulfovibrio spp. from human faecal samples. In this study, faecal samples were inoculated into various media containing different components. The enriched culture communities were identified using 16S rRNA gene high-throughput sequencing analysis, enabling us to identify the specific components that enable the enrichment of Desulfovibrio. Using this information, we developed five specific media and identified an effective enrichment medium that produced the highest relative abundance of Desulfovibrio in communities cultured from four faecal samples (26·5, 73·5, 44·7 and 77·6% respectively). In addition, the major non-Desulfovibrio genera were identified. Finally, three species of Desulfovibrio, D. desulfuricans, D. piger and D. legallii were isolated, representing the first time that has D. legallii been isolated from a human gastrointestinal source. SIGNIFICANCE AND IMPACT OF THE STUDY: ost of the human intestinal bacteria have not been cultured because of lack of appropriate culture method and appropriate media. Desulfovibrio spp. is associated with several clinical conditions like inflammatory bowel disease, but until now there are very few reports describing the isolation of Desulfovibrio spp. from human faecal samples. In this study, 16S rRNA gene high-throughput sequencing analysis was applied to screen appropriate enrichment media and selective cultivation of Desulfovibrio. This sequencing-based directed culture method described here can be used for the selective cultivation of gut bacteria of interest.


Assuntos
Desulfovibrio , Fezes/microbiologia , Microbioma Gastrointestinal/genética , Trato Gastrointestinal/microbiologia , Meios de Cultura , Técnicas de Cultura , Desulfovibrio/classificação , Desulfovibrio/genética , Desulfovibrio/isolamento & purificação , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , RNA Ribossômico 16S/genética
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