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1.
Zhonghua Er Ke Za Zhi ; 61(12): 1109-1117, 2023 Dec 02.
Artigo em Chinês | MEDLINE | ID: mdl-38018048

RESUMO

Objective: To investigate the etiology, complications, and prognostic factors of stage 5 chronic kidney disease (CKD5) in children. Methods: A case series study was conducted to retrospectively analyze the general situation, clinical manifestations, laboratory tests, genetic testing, and follow-up data (until October 2022) of 174 children with CKD5 who were diagnosed and hospitalized at the Children's Hospital of Chongqing Medical University from April 2012 to April 2021. The characteristics of complications in the children were compared based on age, gender, and etiology. Based on the presence or absence of left ventricular hypertrophy (LVH), patients were divided into LVH group and non LVH group for analyzing the influencing factors of cardiovascular disease. Patients were also divided into death group and survival group, peritoneal dialysis group and hemodialysis group based on the follow-up data for analyzing the prognostic factors. The chi-square test, independent sample t-test, Fisher exact probability test, Mann-Whitney U test and Kruskal Wallis test were used to analyze data among different groups. Multivariate Logistic regression analysis was used to identify the prognostic factors. Results: A total of 174 children with CKD5 were enrolled in the study (96 boys and 78 girls), aged 11.2 (8.2, 13.0) years. Congenital kidney and urinary tract malformations (CAKUT) were the most common causes of the CKD5 (84 cases, 48.3%), followed by glomerular diseases (83 cases, 47.7%), and among which 28 cases (16.1%) were hereditary glomerular diseases. The common complications of CKD5 included anemia (98.2%, 165/168), mineral and bone disorder in chronic kidney disease (CKD-MBD) (97.7%, 170/174), lipid metabolism disorders (87.5%, 63/72), hypertension (81.4%, 127/156) and LVH (57.6%,57/99). The incidences of hypertension in primary glomerular disease were higher than that in CAKUT(93.8%(30/32) vs.73.7%(56/76),χ2=5.59,P<0.05). The incidences of hypertension in secondary glomerular disease were higher than that in CAKUT and that in hereditary kidney disease (100.0%(20/20) vs. 73.7%(56/76), 68.2%(15/22), both P<0.05). The incidence of hypocalcemia in CAKUT, primary glomerular disease, and hereditary kidney disease was higher than that in secondary glomerular disease (82.1%(69/84), 88.2%(30/34), 89.3%(25/28) vs. 47.6%(10/21), χ2=10.21, 10.75, 10.80, all P=0.001); the incidence of secondary hyperparathyroidism in women was higher than that in men (80.0%(64/80) vs. 95.0%(57/60), χ2=6.58, P=0.010). The incidence of LVH in children aged 6-<12 was higher than that in children aged 12-18 (73.5%(25/34) vs. 43.1%(22/51), χ2=7.62, P=0.006). Among 113 follow-up children, the mortality rate was 39.8% (45/113). Compared to the survival group, the children in the death group had lower hemoglobin, higher blood pressure, lower albumin, lower alkaline phosphatase and higher left ventricular mass index ((67±19) vs. (75±20) g/L, 142 (126, 154) vs. 128(113, 145) mmHg(1 mmHg=0.133 kPa), (91±21) vs. (82±22) mmHg, 32 (26, 41) vs. 40 (31, 43) g/L, 151 (82, 214) vs. 215 (129, 37) U/L, 48 (38, 66) vs. 38(32, 50) g/m2.7,t=2.03, Z=2.89, t=2.70, Z=2.49, 2.79, 2.29,all P<0.05), but no independent risk factors were identified (all P>0.05). The peritoneal dialysis group had better alleviation for anemia, low calcium, and high phosphorus than the hemodialysis group ((87±22) vs. (72±16) g/L, (1.9±0.5) vs. (1.7±0.4) mmol/L, (2.2±0.7) vs. (2.8±0.9) mmol/L, t=2.92, 2.29, 2.82, all P<0.05), and the survival rate of the peritoneal dialysis group was significantly higher than that of the hemodialysis group (77.8% (28/36) vs. 48.4% (30/62), χ2=8.14, P=0.004). Conclusions: CAKUT is the most common etiology in children with CKD 5, and anemia is the most common complication. The incidence of complications in children with CKD 5 varies with age, gender and etiology. Anemia, hypertension, hypoalbuminemia, reduced alkaline phosphatase and elevated LVMI may be the prognostic factors in children with CKD5. Peritoneal dialysis may be more beneficial for improving the long-term survival rate.


Assuntos
Anemia , Hipertensão , Falência Renal Crônica , Insuficiência Renal Crônica , Masculino , Humanos , Criança , Feminino , Estudos Retrospectivos , Fosfatase Alcalina , Falência Renal Crônica/etiologia , Falência Renal Crônica/terapia , Insuficiência Renal Crônica/complicações , Insuficiência Renal Crônica/terapia , Fatores de Risco , Hipertrofia Ventricular Esquerda/etiologia , Anemia/etiologia
2.
Zhonghua Er Ke Za Zhi ; 61(4): 345-350, 2023 Apr 02.
Artigo em Chinês | MEDLINE | ID: mdl-37011981

RESUMO

Objective: To analyze the clinical and genetic characteristics of pediatric patients with dual genetic diagnoses (DGD). Methods: Clinical and genetic data of pediatric patients with DGD from January 2021 to February 2022 in Peking University First Hospital were collected and analyzed retrospectively. Results: Among the 9 children, 6 were boys and 3 were girls. The age of last visit or follow-up was 5.0 (2.7,6.8) years. The main clinical manifestations included motor retardation, mental retardation, multiple malformations, and skeletal deformity. Cases 1-4 were all all boys, showed myopathic gait, poor running and jumping, and significantly increased level of serum creatine kinase. Disease-causing variations in Duchenne muscular dystrophy (DMD) gene were confirmed by genetic testing. The 4 children were diagnosed with DMD or Becker muscular dystrophy combined with a second genetic disease, including hypertrophic osteoarthropathy, spinal muscular atrophy, fragile X syndrome, and cerebral cavernous malformations type 3, respectively. Cases 5-9 were clinically and genetically diagnosed as COL9A1 gene-related multiple epiphyseal dysplasia type 6 combined with NF1 gene-related neurofibromatosis type 1, COL6A3 gene-related Bethlem myopathy with WNT1 gene-related osteogenesis imperfecta type XV, Turner syndrome (45, X0/46, XX chimera) with TH gene-related Segawa syndrome, Chromosome 22q11.2 microduplication syndrome with DYNC1H1 gene-related autosomal dominant lower extremity-predominant spinal muscular atrophy-1, and ANKRD11 gene-related KBG syndrome combined with IRF2BPL gene-related neurodevelopmental disorder with regression, abnormal movement, language loss and epilepsy. DMD was the most common, and there were 6 autosomal dominant diseases caused by de novo heterozygous pathogenic variations. Conclusions: Pediatric patients with coexistence of double genetic diagnoses show complex phenotypes. When the clinical manifestations and progression are not fully consistent with the diagnosed rare genetic disease, a second rare genetic disease should be considered, and autosomal dominant diseases caused by de novo heterozygous pathogenic variation should be paid attention to. Trio-based whole-exome sequencing combining a variety of molecular genetic tests would be helpful for precise diagnosis.


Assuntos
Anormalidades Múltiplas , Doenças do Desenvolvimento Ósseo , Deficiência Intelectual , Atrofia Muscular Espinal , Distrofia Muscular de Duchenne , Anormalidades Dentárias , Humanos , Estudos Retrospectivos , Deficiência Intelectual/genética , Doenças do Desenvolvimento Ósseo/complicações , Anormalidades Dentárias/complicações , Fácies , Distrofia Muscular de Duchenne/diagnóstico , Distrofia Muscular de Duchenne/genética , Distrofia Muscular de Duchenne/complicações , Atrofia Muscular Espinal/complicações , Proteínas de Transporte , Proteínas Nucleares
3.
Zhonghua Gan Zang Bing Za Zhi ; 31(1): 90-95, 2023 Jan 20.
Artigo em Chinês | MEDLINE | ID: mdl-36948855

RESUMO

Objective: To compare the safety and efficacy of transmesenteric vein extrahepatic portosystemic shunt (TEPS) and transjugular intrahepatic portosystemic shunt (TIPS) in the treatment of cavernous transformation of the portal vein (CTPV). Methods: The clinical data of CTPV patients with patency or partial patency of the superior mesenteric vein treated with TIPS or TEPS treatment in the Department of Vascular Surgery of Henan Provincial People's Hospital from January 2019 to December 2021 were selected. The differences in baseline data, surgical success rate, complication rate, incidence rate of hepatic encephalopathy, and other related indicators between TIPS and TEPS group were statistically analyzed by independent sample t-test, Mann-Whitney U test, and Chi-square test. Kaplan-Meier survival curve was used to calculate the cumulative patency rate of the shunt and the recurrence rate of postoperative portal hypertension symptoms in both groups. Results: The surgical success rate (100% vs. 65.52%), surgical complication rate (6.67% vs. 36.84%), cumulative shunt patency rate (100% vs. 70.70%), and cumulative symptom recurrence rate (0% vs. 25.71%) of the TEPS group and TIPS group were statistically significantly different (P < 0.05). The time of establishing the shunt [28 (2141) min vs. 82 (51206) min], the number of stents used [1 (12) vs. 2 (15)], and the length of the shunt [10 (912) cm vs. 16 (1220) cm] were statistically significant between the two groups (t = -3.764, -4.059, -1.765, P < 0.05). The incidence of postoperative hepatic encephalopathy in the TEPS group and TIPS group was 6.67% and 15.79% respectively, with no statistically significant difference (Fisher's exact probability method, P = 0.613). The pressure of superior mesenteric vein decreased from (29.33 ± 1.99) mmHg to (14.60 ± 2.80) mmHg in the TEPS group and from (29.68 ± 2.31) mmHg to (15.79 ± 3.01) mmHg in TIPS group after surgery, and the difference was statistically significant (t = 16.625, 15.959, P < 0.01). Conclusion: The best indication of TEPS is in CTPV patients with patency or partial patency of the superior mesenteric vein. TEPS improves the accuracy and success rate of surgery and reduces the incidence of complications.


Assuntos
Encefalopatia Hepática , Hipertensão Portal , Derivação Portossistêmica Transjugular Intra-Hepática , Humanos , Veia Porta/cirurgia , Derivação Portossistêmica Transjugular Intra-Hepática/métodos , Encefalopatia Hepática/etiologia , Resultado do Tratamento , Hipertensão Portal/cirurgia , Hipertensão Portal/complicações , Estudos Retrospectivos , Hemorragia Gastrointestinal/etiologia
4.
Zhonghua Er Ke Za Zhi ; 60(7): 700-705, 2022 Jul 02.
Artigo em Chinês | MEDLINE | ID: mdl-35768359

RESUMO

Objective: The purpose of this study was to investigate the relationship between genotypes and clinical phenotypes of primary distal renal tubular acidosis (dRTA) in children. Methods: Clinical information, genetic testing information and follow-up data (until March 2021) of children with dRTA from Children's Hospital of Chongqing Medical University (from January 2010 to December 2020) were analyzed retrospectively. According to different pathogenic genes, patients were divided into SLC4A1 gene and ATP6V0A4+ATP6V1B1 gene groups. Age at onset, clinical manifestations and laboratory findings were compared. Self-comparisons of height standard deviation score (HtSDS), weight standard deviation score (WtSDS), blood pH and serum potassium before and after treatment were tested. T-test, Fisher's exact test and rank sum test were used to analyze among groups. Results: Among 27 children with dRTA (16 boys and 11 girls), the age of onset was 33.4 (10.0, 36.0) months.There were 22 patients (81%) with SLC4A1 gene variation, 3 patients (11%) with ATP6V1B1 gene variation and 2 patients (8%) with ATP6V0A4 gene variation. Totally 22 patients (81%) with renal calcium deposition, 19 patients (70%) hypokalemia, 18 patients (67%) short stature, 16 patients (59%) malnutrition, 16 patients (59%) rickets, and 15 patients (56%) polydipsia and polyuria. Noteworthily, the genotyping results indicated that the age at onset in SLC4A1 gene group was older than that in ATP6V0A4+ATP6V1B1 gene group, with a statistically significant difference (27.3 (12.0, 36.0) vs. 8.2 (2.5, 15.0) months, H=6.33, P=0.012). However, there were no significant differences in clinical manifestations or laboratory test results (all P>0.05). Furthermore, the course of disease was 3.9 (1.3, 6.0) years and the follow-up period was 3.1 (1.0, 4.5) years in 27 patients. In addition, there were no significant differences in recovery rate of clinical manifestations and last laboratory findings between SLC4A1 gene group and ATP6V0A4+ATP6V1B1 gene group (all P>0.05). HtSDS and WtSDS of those patients significantly increased after treatment (-3.2±1.9 vs. -2.1±1.1, -2.5±1.5 vs. 0±1.9, t=-2.94, -5.44, both P<0.01). Serum K+ and blood pH were restored eventually ((3.2±0.5) vs. (4.0±0.5) mmol/L, 7.27±0.07 vs. 7.37±0.07, t=-4.92, -5.25, both P<0.01). Totally 14 patients had normalized serum potassium, 12 patients had normalized blood pH, but only 4 patients had normalized serum bicarbonate concentration and normal base excess. Conclusions: The age of onset of patients who had SLC4A1 gene mutation was older than that of patients with ATP6V0A4 gene and ATP6V1B1 gene mutations. However, there was no obvious correlation between the condition and prognosis of the dRTA patients and pathogenic genes. Early diagnosis, early treatment, regular follow-up and timely adjustment of the dosage of medication can significantly improve the prognosis of dRTA in children. Serum bicarbonate concentration and actual base excess might not be the necessory indicators to assess clinical recovery.


Assuntos
Acidose Tubular Renal , ATPases Vacuolares Próton-Translocadoras , Acidose Tubular Renal/diagnóstico , Acidose Tubular Renal/genética , Proteína 1 de Troca de Ânion do Eritrócito/genética , Bicarbonatos , Genótipo , Humanos , Mutação , Fenótipo , Potássio , Prognóstico , Estudos Retrospectivos , ATPases Vacuolares Próton-Translocadoras/genética
6.
Zhonghua Er Ke Za Zhi ; 59(5): 393-399, 2021 May 02.
Artigo em Chinês | MEDLINE | ID: mdl-33902224

RESUMO

Objective: To investigate the effect of high glucose on scavenger receptor-A (SR-A) in human glomerular mesangial cells (HMC) and explore the mechanism of inflammatory injury mediated by SR-A in HMC cultured in high-glucose medium. Methods: According to the concentration of D-glucose in culture medium, HMC were divided into normal glucose group (5.5 mmol/L) and high glucose group (30 mmol/L), with mannitol group as hypertonic control. High glucose group was transfected with SR-A small interfering RNA (siSR-A) and the transfection control (siNC) group were set up. Western blotting technology was used to detect the levels of SR-A, NOD-like receptor family pyrin domain-containing 3 (NLRP3), interleukin-1ß (IL-1ß) protein. Immunofluorescent staining was applied to measure the SR-A in HMC. The mRNA of NLRP3, Caspase-1, IL-1ß, FN, ColⅣ, α-SMA and GRP78 were detected by real-time quantitative PCR. The relative activity of Caspase-1 was detected by enzyme method and the concentration of IL-1ß in culture medium was detected by enzyme linked immunosorbent assay. Flow cytometry was used to measure the cell cycles of HMC. One-way ANOVA and SNK-q test were used for statistical analysis. Results: The protein level of SR-A in high glucose group was higher than that in normal glucose group and mannitol group (1.23±0.21 vs. 0.68±0.10, 1.23±0.21 vs. 0.78±0.13, all P<0.05). In addition, mean fluorescence intensity of SR-A, protein levels of NLRP3 and IL-1ß, mRNA of NLRP3, Caspase-1 and IL-1ß, relative activity of Caspase-1 as well as the concentration of IL-1ß in high glucose group were all significantly higher than those in normal glucose group and mannitol group (all P<0.05).After transfection induced silencing, SR-A protein in high glucose siNC group was higher than that in high glucose siSR-A group and normal glucose siNC group (1.23±0.10 vs. 0.20±0.01, 1.23±0.10 vs. 0.87±0.01, all P<0.01). In high glucose siNC group, the NLRP3, IL-1ß proteins, the NLRP3, Caspase-1 and IL-1ß mRNA, all of the mRNA levels of FN, ColⅣ, α-SMA, GRP78 and the proportion of DNA synthesis phase were all higher than those in high glucose siSR-A group and normal glucose siNC group (all P<0.05). Conclusion: High glucose can promote abnormal cell proliferation, increase mesangial matrix production and enhance oxidative stress response through upregulating SR-A expression, and ultimately aggravate cellular inflammatory damage in HMC, which may be associated with NLRP3-Caspase-1-IL-1ß pathway regulated by SR-A expression.


Assuntos
Inflamassomos , Proteína 3 que Contém Domínio de Pirina da Família NLR , Chaperona BiP do Retículo Endoplasmático , Glucose , Humanos , Interleucina-1beta/genética , Células Mesangiais , Proteína 3 que Contém Domínio de Pirina da Família NLR/genética , Receptores Depuradores
7.
Zhonghua Wai Ke Za Zhi ; 59(2): 116-120, 2021 Feb 01.
Artigo em Chinês | MEDLINE | ID: mdl-33378803

RESUMO

Objective: To examine treatment outcomes of breast phyllodes tumors and the prognosis factors of local recurrence. Methods: This retrospective cohort study included 276 patients who underwent surgical resection at Breast Center, Peking University People's Hospital from January 2011 to December 2019. Tumor subtype and histopathological features were determined from pathology reports, and the deadline of follow-up was September 30th, 2020. All 276 patients underwent open surgery, including 17 patients of mastectomy, and 259 patients of lumpectomy. The enrolled patients were all female, with age of (41.5±11.3) years (rang: 11 to 76 years), and tumor diameter of 35(28) mm (M(QR)). The Kaplan-Meier method and Log-rank test were used for survival analysis. The multivariate analysis was implemented using the Cox proportional hazard model. Results: According the pathologic test, there were 191 patients of benign phyllodes tumor, 67 patients of borderline tumor and 18 patients of malignant tumor. There were 249 patients with a follow-up of more than 6 months, and 14.1% (35/249) had local recurrence. The time-to-recurrence was (28.6±22.2) months (range: 2 to 96 months), (29.1±18.1) months (range: 2 to 80 months), (32.1±30.1) months (range: 5 to 96 months) and (12.0±6.9) months (range: 8 to 20 months) for benign, borderline and malignant phyllodes tumors. Tumor diameter (≥100 mm vs.<50 mm, HR=3.968, 95%CI: 1.550 to 10.158, P=0.004) and malignant heterologous element (yes vs. no, HR=26.933, 95%CI: 3.105 to 233.600, P=0.003) were prognosis factors of local recurrence. One death from malignant phyllodes occurred after distant metastasis. The 3-year disease-free survival rates of benign, borderline and malignant phyllodes tumor were 88.2%, 81.7% and 81.4% (P=0.300). Conclusion: Phyllodes tumors have a considerable local recurrence rate, which may be associated with tumor diameter and malignant heterologous element.


Assuntos
Neoplasias da Mama , Recidiva Local de Neoplasia/diagnóstico , Tumor Filoide , Adulto , Neoplasias da Mama/cirurgia , Feminino , Humanos , Mastectomia , Pessoa de Meia-Idade , Tumor Filoide/cirurgia , Prognóstico , Estudos Retrospectivos
8.
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
9.
Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi ; 37(11): 810-814, 2019 Nov 20.
Artigo em Chinês | MEDLINE | ID: mdl-31826543

RESUMO

Objective: To research build a kind of occupational disease risk assessment model which provides scientific basis for prevention and control of occupational diseases. Methods: Based on the principle of information diffusion, this paper uses spread function to extend the incomplete gathered information, establishes the mapping relationship between observation samples and risk probability distributions, and constructs the occupational disease risk assessment model, to analyzes the risk data of occupational disease reported cases in Guangdong Province in the past five years. Results: Through evaluation analysis, every year, 200-300 cases of pneumoconiosis probability is 67.77%, 100-200 cases of occupational poisoning probability is 68.52%, 20-40 cases of occupational cancers probability is 71.62%, each year, the incidence of occupation otorhinolaryngology and oral diseases in 200 cases was 62.23%. Conclusion: A model of occupational disease risk assessment based on information diffusion theory is constructed, the evaluation result is basically consistent with the actual situation of occupational disease, which can provide reference for occupational disease prevention and control.


Assuntos
Modelos Estatísticos , Doenças Profissionais , Humanos , Incidência , Doenças Profissionais/epidemiologia , Doenças Profissionais/prevenção & controle , Medição de Risco
10.
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
11.
Epidemiol Infect ; 147: e72, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30869001

RESUMO

The seasonality of individual influenza subtypes/lineages and the association of influenza epidemics with meteorological factors in the tropics/subtropics have not been well understood. The impact of the 2009 H1N1 pandemic on the prevalence of seasonal influenza virus remains to be explored. Using wavelet analysis, the periodicities of A/H3N2, seasonal A/H1N1, A/H1N1pdm09, Victoria and Yamagata were identified, respectively, in Panzhihua during 2006-2015. As a subtropical city in southwestern China, Panzhihua is the first industrial city in the upper reaches of the Yangtze River. The relationship between influenza epidemics and local climatic variables was examined based on regression models. The temporal distribution of influenza subtypes/lineages during the pre-pandemic (2006-2009), pandemic (2009) and post-pandemic (2010-2015) years was described and compared. A total of 6892 respiratory specimens were collected and 737 influenza viruses were isolated. A/H3N2 showed an annual cycle with a peak in summer-autumn, while A/H1N1pdm09, Victoria and Yamagata exhibited an annual cycle with a peak in winter-spring. Regression analyses demonstrated that relative humidity was positively associated with A/H3N2 activity while negatively associated with Victoria activity. Higher prevalence of A/H1N1pdm09 and Yamagata was driven by lower absolute humidity. The role of weather conditions in regulating influenza epidemics could be complicated since the diverse viral transmission modes and mechanism. Differences in seasonality and different associations with meteorological factors by influenza subtypes/lineages should be considered in epidemiological studies in the tropics/subtropics. The development of subtype- and lineage-specific prevention and control measures is of significant importance.


Assuntos
Vírus da Influenza A Subtipo H1N1/fisiologia , Vírus da Influenza A Subtipo H3N2/fisiologia , Influenza Humana/epidemiologia , Pandemias , China/epidemiologia , Clima , Humanos , Estações do Ano
12.
Ann Oncol ; 30(2): 310-316, 2019 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-30566587

RESUMO

BACKGROUND: Regular use of aspirin has been associated with a reduced risk of cancer at several sites but the data for endometrial cancer are conflicting. Evidence regarding use of other analgesics is limited. PATIENTS AND METHODS: We pooled individual-level data from seven cohort and five case-control studies participating in the Epidemiology of Endometrial Cancer Consortium including 7120 women with endometrial cancer and 16 069 controls. For overall analyses, study-specific odds ratios (ORs) and 95% confidence intervals (CI) were estimated using logistic regression and combined using random-effects meta-analysis; for stratified analyses, we used mixed-effects logistic regression with study as a random effect. RESULTS: At least weekly use of aspirin and non-aspirin nonsteroidal anti-inflammatory drugs (NSAIDs) was associated with an approximately 15% reduced risk of endometrial cancer among both overweight and obese women (OR = 0.86 [95% CI 0.76-0.98] and 0.86 [95% CI 0.76-0.97], respectively, for aspirin; 0.87 [95% CI 0.76-1.00] and 0.84 [0.74-0.96], respectively, for non-aspirin NSAIDs). There was no association among women of normal weight (body mass index < 25 kg/m2, Pheterogeneity = 0.04 for aspirin, Pheterogeneity = 0.003 for NSAIDs). Among overweight and obese women, the inverse association with aspirin was stronger for use 2-6 times/week (OR = 0.81, 95% CI 0.68-0.96) than for daily use (0.91, 0.80-1.03), possibly because a high proportion of daily users use low-dose formulations. There was no clear association with use of acetaminophen. CONCLUSION: Our pooled analysis provides further evidence that use of standard-dose aspirin or other NSAIDs may reduce risk of endometrial cancer among overweight and obese women.


Assuntos
Acetaminofen/efeitos adversos , Analgésicos não Narcóticos/efeitos adversos , Anti-Inflamatórios não Esteroides/efeitos adversos , Aspirina/efeitos adversos , Neoplasias do Endométrio/epidemiologia , Estudos de Casos e Controles , Estudos de Coortes , Neoplasias do Endométrio/induzido quimicamente , Feminino , Seguimentos , Humanos , Prognóstico , Fatores de Risco , Estados Unidos/epidemiologia
14.
Beijing Da Xue Xue Bao Yi Xue Ban ; 50(2): 213-220, 2018 Apr 18.
Artigo em Chinês | MEDLINE | ID: mdl-29643517

RESUMO

OBJECTIVE: To investigate the clinical significance of high-frequency oscillations (HFOs) on scalp electroencephalography (EEG) in patients with epileptic encephalopathy with continuous spike-and-wave during sleep (CSWS). METHODS: Twenty-one CSWS patients treated for epilepsy from January 2006 to December 2016 in Pediatric Department of Peking University First Hospital were enrolled into the study. Selected clinical variables including gender, age parameters, seizure frequencies and antiepileptic drugs were compared between (a). HFO-positive group and HFO-negative group before methylprednisolone treatment and (b). excellent seizure outcome group and not-excellent seizure outcome group after methylprednisolone treatment. Interictal HFOs and spikes in pre- and post-methylprednisolone scalp EEG were measured and analyzed. RESULTS: Before methylprednisolone treatment, there were 12 of 21 (57%) CSWS patients had HFOs, with a mean value 43.17 per 60 s per patient. The 12 patients with HFOs tended to have more frequent epileptic negative myoclonus/atonic/myoclonus/atypical absences than those without HFOs in a month before methylprednisolone treatment. A total of 518 HFOs and 22 592 spikes were found in the pre-methylprednisolone EEG data of 21 patients, and 441 HFOs (86%) were associated with spikes. The highest amplitudes of HFOs were significantly positively correlated with that of spikes (r=0.279, P<0.001). Rates reduced by methylprednisolone treatment were statistically significant for both HFOs (P=0.002) and spikes (P=0.006). The percentage of reduction was 91% (473/518) and 39% (8 905/22 592) for spikes and HFOs, respectively. The percentage of spike and HFOs changes was respectively 100% decrease and 47% decrease in the excellent seizure outcome group, and they were 79% decrease and 18% increase in the not-excellent seizure outcome group. CONCLUSION: Prevalence of HFOs might reflect some aspect of epileptic activity. HFOs were more sensitive to methylprednisolone treatment than spikes and had a good correlation with the prognosis of seizures, and HFOs could be applied to assess epilepsy severity and antiepileptic therapy.


Assuntos
Eletroencefalografia/métodos , Epilepsia/fisiopatologia , Convulsões , Anticonvulsivantes/uso terapêutico , Criança , Epilepsia/tratamento farmacológico , Epilepsia Tipo Ausência , Humanos , Metilprednisolona , Couro Cabeludo , Sono
15.
Eur Rev Med Pharmacol Sci ; 21(3 Suppl): 6-11, 2017 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-28745799

RESUMO

OBJECTIVE: We analyzed the comparative efficacy and long-term prognosis with proximal femoral nail anti-rotation (PFNA) and dynamic hip screw (DHS) for the treatment of unstable intertrochanteric fractures, retrospectively. We determined the independent risk factors to guide subsequent surgery and improve the long-term quality of life. PATIENTS AND METHODS: We selected 165 patients suffering from unstable intertrochanteric fracture from January 2010 to January 2015 in our hospital, including 89 treated with PFNA and 76 with DHS surgery. The duration of follow-up lasted from 10 months to 56 months (34.7 ± 8.5) on average. The patient demographics included gender, age, reasons for fracture, fracture type (Evans-Jensen), fracture time, comorbidities, surgical procedures (PFNA and DHS), the number of internal fixations, length, surgical time, blood loss, postoperative drug therapy, time for auxiliary external fixation and postoperative weight duration. The final indicators included adverse effects associated with implants; postoperative complications, clinical healing or bone healing time and functional score (Harris hip joint function scale, fine/excellent rate). RESULTS: The differences in gender, age, fracture reasons, fracture type, fracture time and comorbidities were not statistically significant between the groups (p>0.05). However, the number of internal fixations, length, surgical time and blood loss, postoperative drug combination, time for auxiliary external fixation and postoperative weight duration were statistically significant (p<0.05). The effect of PFNA was more significant than that of DHS group. The prevalence of complications was reduced significantly. The patients treated with PFNA scored significantly higher on the Harris hip joint function scale than the DHS group (p<0.05). The independent risk factors affecting healing after surgery included fracture type, fracture time, different surgical procedures, the number of internal fixations and length. The independent risk factors affecting the follow-up Harris hip score included age, fracture type, comorbidities, different surgical procedures, postoperative drug combination, auxiliary external fixation, application time and postoperative weight duration. CONCLUSIONS: Compared with DHS, PFNA resulted in better clinical outcomes and long-term prognosis of unstable intertrochanteric fractures.


Assuntos
Pinos Ortopédicos , Fraturas do Quadril/cirurgia , Adulto , Fatores Etários , Idoso , Feminino , Fraturas do Quadril/diagnóstico , Humanos , Masculino , Pessoa de Meia-Idade , Período Pós-Operatório , Qualidade de Vida , Estudos Retrospectivos , Fatores de Risco , Rotação , Fatores Sexuais , Resultado do Tratamento , Adulto Jovem
16.
Zhonghua Er Ke Za Zhi ; 54(11): 823-828, 2016 Nov 02.
Artigo em Chinês | MEDLINE | ID: mdl-27806789

RESUMO

Objective: To evaluate the feasibility of using amplitude-integrated electroencephalogram (aEEG) to identify epileptic seizures by physicians and nurses in pediatric intensive care unit (PICU) independently. Method: Six testees (two PICU physicians versus one EEG physician and two PICU nurses versus one EEG technician) accepted a short-term training, then interpreted aEEG in a single blinded way. These aEEG recordings with synchronous VEEG monitoring were done from January 2013 to May 2015 in PICU. The testees should recognize and mark both the seizure type and the seizure duration from the two-channel recorder (C3/C4) of aEEG (short-term seizure or status epilepticus (SE)). Using raw VEEG monitoring as a gold standard to determine a seizure, the accuracy, missing and error rate of each testees were confirmed, and the reasons of the latter two situations were analyzed by rank sum test and inter-testee agreement (k) . Result: Eighty-two aEEG recordings from 56 patients were interpreted. Thirty-two recordings had 141 epileptic seizures confirmed by VEEG, including 119 short-term seizures and 22 SE. There were 50 recordings without seizure. As for the short-term seizures, the average accuracy of 6 testees by aEEG alone was (66±4)%. The accuracy for SE was 100% in three testees and 95% in the other three. Missing rate of the seizures were 24.1%-32.6% in all 6 testees. Those missed seizures were all short-term (duration less than 20 seconds) but one SE. The average error rate was (19±9) times (P=0.000). These false interpretations were misunderstanding, many kinds of artifacts were regarded as epileptic seizures. The accuracy and missing rate among the testees had no significance(P=0.930, 0.996), but the error rate had(P=0.000). The inter-testee agreement (k) between two physicians in PICU and the EEG doctor were 0.700 and 0.687 respectively (P<0.01), which is good. As for two nurses and the EEG technician, the inter-testee agreement (k) was 0.705 and 0.396 respectively (P<0.01). Conclusion: Most of the seizures especially status epilepticus can be detected by PICU staff after short term training. The accuracy of identification of epileptic seizures was similar among observers from PICU and EEG, although some short-term seizures may be missed, and artifacts are mistaken.It's necessary to communicate with EEG doctors and compare with the row VEEG when physicians in PICU find suspicious events.


Assuntos
Eletroencefalografia , Epilepsia/diagnóstico , Criança , Humanos , Unidades de Terapia Intensiva Pediátrica , Corpo Clínico , Médicos , Convulsões , Estado Epiléptico
17.
Genet Mol Res ; 15(2)2016 04 25.
Artigo em Inglês | MEDLINE | ID: mdl-27173231

RESUMO

Bone fractures or bones subjected to open conduction and internal fixation are easily infected by bacteria; bacterial lipopolysaccharide (LPS) has been recognized as an important pathogenic factor affecting bone fracture healing. Therefore, the effect of LPS on bone metabolism is relevant for bone healing. In this study, we investigated the effect of LPS on the expression of Toll-like receptor (TLR)-4 (an LPS receptor) by using real-time quantitative PCR and western blotting. We also examined the regulatory role of LPS in osteoblast differentiation by measuring the ALP activity, matrix mineralization, and ALP, OCN, and Runx2 mRNA (essential factors affecting osteoblast differentiation) expression in LPS-treated mouse osteoblast MC3T3-E1 cells. We also evaluated the effect of TLR-4 on LPS-mediated inhibition of osteoblast differentiation using RNA interference. LPS promotes TLR-4 mRNA and protein expression in MC3T3-E1 cells (P < 0.05, P < 0.01 or P < 0.001), and inhibits osteoblast differentiation by downregulating matrix mineralization and ALP activity (P < 0.05, P < 0.01 or P < 0.001), and suppressing the expression ALP, OCN, and Runx2 mRNA in MC3T3-E1 cells (P < 0.05 or P < 0.01). Conversely, RNAi-mediated TLR-4 knockdown abrogates the LPS-mediated inhibition of osteoblast differentiation (P < 0.05 or P < 0.01). In summary, LPS was shown to inhibit osteoblast differentiation by suppressing the expression of ALP, OCN, and Runx2 in a TLR-4-dependent manner. The results of this study may provide insights into the signal pathway of LPS-induced bone loss or delayed bone fracture healing.


Assuntos
Diferenciação Celular/efeitos dos fármacos , Fraturas Ósseas/genética , Osteoblastos/metabolismo , Receptor 4 Toll-Like/biossíntese , Proteínas Adaptadoras de Transdução de Sinal/biossíntese , Animais , Linhagem Celular , Subunidade alfa 1 de Fator de Ligação ao Core/biossíntese , Fraturas Ósseas/tratamento farmacológico , Fraturas Ósseas/patologia , Regulação da Expressão Gênica/efeitos dos fármacos , Humanos , Lipopolissacarídeos/administração & dosagem , Proteínas de Membrana/biossíntese , Camundongos , Osteoblastos/patologia , Osteogênese/efeitos dos fármacos , RNA Mensageiro/genética , Transdução de Sinais/efeitos dos fármacos , Receptor 4 Toll-Like/genética
18.
J Biol Regul Homeost Agents ; 30(1): 103-10, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27049080

RESUMO

This study was carried out to investigate the expression changes of RanBP9 in tissue specimens and osteosarcoma cell strains and preliminarily explore its mechanism in osteosarcoma, so as to provide a theoretical foundation for follow-up experiments. The expression of RanBP9 in human osteosarcoma tissue specimens was detected by immunohistochemistry and the expression of RanBP9 messenger ribose nucleic acid (mRNA) in osteosarcoma cell strains was detected in real-time with polymerase chain reaction (PCR), and finally the expression of RanBP9 protein in osteosarcoma cell strains was detected by immunofluorescent staining and Western blot. Results demonstrated that RanBP9 was widely expressed in tissues, but also highly expressed in cells; moreover, the expression of RanBP9 was mainly concentrated in cytoplasm and nucleus, and partial expression was found in cell membrane. Thus, it can be concluded that RanBP9 is positively expressed in bone tumor tissues and cell strains.


Assuntos
Proteínas Adaptadoras de Transdução de Sinal/genética , Cartilagem/metabolismo , Proteínas do Citoesqueleto/genética , Proteínas Nucleares/genética , Osteossarcoma/genética , Proteínas Adaptadoras de Transdução de Sinal/metabolismo , Western Blotting , Cartilagem/patologia , Linhagem Celular Tumoral , Proteínas do Citoesqueleto/metabolismo , Feminino , Regulação Neoplásica da Expressão Gênica , Humanos , Imuno-Histoquímica , Masculino , Proteínas Nucleares/metabolismo , Osteoclastos/metabolismo , Osteossarcoma/patologia , Inclusão em Parafina , Reação em Cadeia da Polimerase , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Adulto Jovem
19.
Platelets ; 27(5): 440-5, 2016 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-26830862

RESUMO

Ticagrelor is a novel direct-acting P2Y12 receptor antagonist used for preventing atherothrombotic events in patients with acute coronary syndromes (ACS). The current recommended dose is 90 mg bid, but a low dose of ticagrelor has not been previously studied in Chinese ACS patients. Therefore, we performed this study to observe the different effects of half- and standard-dose ticagrelor on platelet aggregation in Chinese patients with NSTE-ACS. Sixty-two NSTE-ACS subjects were assigned to half-dose ticagrelor (n = 20), standard-dose ticagrelor (n = 22) and clopidogrel (n = 20) groups. Five days after drug administration, VerifyNow P2Y12 assay was performed to test P2Y12 reaction units (PRU) and inhibition of platelet aggregation (IPA). High-platelet reactivity (HPR) was defined as a PRU > 208. The adverse events, including bleeding events and dyspnoea, were monitored throughout the study. PRU values in the half-dose (44.55 ± 32.88) and standard-dose (39.10 ± 40.02) ticagrelor were dramatically lower than those in the clopidogrel group (189.20 ± 65.22; P < 0.0001). The half-dose (84% ± 10%) and standard-dose (86% ± 13%) ticagrelor both showed greater IPA than clopidogrel (33% ± 20%; P < 0.0001). There were no significant differences in PRU and IPA between the two ticagrelor groups (P = 0.3085 and 0.4028, respectively). HPR rates were significantly lower in the two ticagrelor groups (0% for both) than those in the clopidogrel group (35%). In conclusion, half-dose ticagrelor had a similar inhibitory effect on platelet aggregation as standard-dose ticagrelor in Chinese patients with NSTE-ACS, which was significantly stronger than that of clopidogrel.


Assuntos
Síndrome Coronariana Aguda/tratamento farmacológico , Adenosina/análogos & derivados , Inibidores da Agregação Plaquetária/administração & dosagem , Antagonistas do Receptor Purinérgico P2Y/administração & dosagem , Síndrome Coronariana Aguda/sangue , Síndrome Coronariana Aguda/diagnóstico , Adenosina/administração & dosagem , Adenosina/efeitos adversos , Idoso , Plaquetas/efeitos dos fármacos , Plaquetas/metabolismo , Comorbidade , Eletrocardiografia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Agregação Plaquetária/efeitos dos fármacos , Inibidores da Agregação Plaquetária/efeitos adversos , Testes de Função Plaquetária , Antagonistas do Receptor Purinérgico P2Y/efeitos adversos , Fatores de Risco , Ticagrelor , Resultado do Tratamento
20.
Genet Mol Res ; 14(4): 14496-502, 2015 Nov 19.
Artigo em Inglês | MEDLINE | ID: mdl-26600508

RESUMO

Maize (Zea mays L.) kernel width is one of the most important traits that is related to yield and appearance. To understand its genetic mechanisms more clearly, a recombinant inbred line (RIL) segregation population consisting of 239 RILs was used for quantitative trait locus (QTL) mapping for kernel width. We found four QTLs on chromosomes 3 (one), 5 (two), and 10 (one). The QTLs were close to their adjacent markers, with a range of 0-23.8 cM, and explained 6.2-19.7% of the phenotypic variation. The three QTLs on chromosomes 3 and 5 had positive additive effects, and to a certain extent increased kernel width, whereas the one on chromosome 10 exhibited negative additive effects and decreased kernel width. These results can be used for gene cloning and marker-assisted selection in maize-breeding programs.


Assuntos
Mapeamento Cromossômico , Locos de Características Quantitativas/genética , Zea mays/genética , Cruzamento , Cromossomos de Plantas , Fenótipo , Zea mays/crescimento & desenvolvimento
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