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1.
Zhonghua Yi Xue Za Zhi ; 101(41): 3393-3398, 2021 Nov 09.
Artigo em Chinês | MEDLINE | ID: mdl-34758542

RESUMO

Objective: To explore the efficacy and safety of stereotactic electroencephalography (SEEG)-guided conformal radiofrequency thermocoagulation for epilepsy caused by focal cortical dysplasia (FCD) in eloquent cortex. Methods: The data of epilepsy patients with conformal thermocoagulation in the Epilepsy Center of Guangdong Sanjiu Brain Hospital from September 2017 to August 2020 were retrospectively analyzed. SEEG electrodes were placed in patients with drug-refractory epilepsy caused by FCD in eloquent cortex with limited boundaries, which was confirmed by preoperative evaluation methods such as imaging and electroencephalography. When designing the electrode placement plan, related software was used to reconstruct the three-dimensional MRI image and lesion. SEEG electrode contacts should be designed to fully cover the lesion as much as possible. After the completion of SEEG monitoring and cortical electrical stimulation, the pre-thermocoagulation and permanent thermocoagulation modes were used in sequence. The mode of direct damage between adjacent contacts of a single electrode and cross-destruction between adjacent contacts of multiple electrodes was combined to ablate the lesions point by point. Results: A total of 22 patients were enrolled, ranging from 2 to 30 years old, with an average age of (15±9) years old. MRI showed that FCD lesions located at pre-central gyrus in 19 cases, at post-central gyrus in 3 cases, at left frontal lobe in 3 cases, at both pre-central and post-central gyrus in 1 case and at both pre-central and left frontal lobe in 2 cases. The length of the lesion was 1.2-4.0 cm, with an average length of (2.2±0.7) cm. Moreover, 7-12 SEEG electrodes were implanted, with an average of (9±2) electrodes. The number of electrodes passing through the lesion was 2-8, with an average of 5±2. The number of thermocoagulation target points was 6 to 83, with an average of 29±18, while the number of target points which proved to have function by cortical simulation was 0-21, with a median of 3.5. The number of direct thermocoagulation target points was 6 to 58, with an average of 23±13, while the number of cross thermocoagulation target points was 0 to 30, with a median of 3. The completion of the whole thermocoagulation was divided into 2 to 5 times. There were 11 cases (50%) who experienced immediate muscle strength decline, 1 case (4.5%) showed slower speech speed during thermocoagulation, 3 cases (13.6%) exhibited muscle strength decline after thermocoagulation, however, only 1 case (4.5%) had permanent hemiparalysis. There were 17 cases of Engel Ⅰ (77.3%), 3 cases of Engel Ⅱ (13.6%), and 2 case of Engel Ⅲ (9.1%), respectively, after follow-up for 6-42 months, with an average of (20±10) months. Conclusion: SEEG-guided conformal radiofrequency thermocoagulation is safe and effective for epilepsy caused by FCD in eloquent cortex with limited boundaries.


Assuntos
Epilepsia , Malformações do Desenvolvimento Cortical , Adolescente , Adulto , Criança , Pré-Escolar , Eletrocoagulação , Eletroencefalografia , Epilepsia/cirurgia , Humanos , Imageamento por Ressonância Magnética , Estudos Retrospectivos , Técnicas Estereotáxicas , Resultado do Tratamento , Adulto Jovem
2.
Zhonghua Xue Ye Xue Za Zhi ; 42(8): 666-672, 2021 Aug 14.
Artigo em Chinês | MEDLINE | ID: mdl-34547873

RESUMO

Objective: To investigate risk factors for early mortality (EM) in patients with newly diagnosed multiple myeloma (NDMM) and to build an EM-predictive model. Methods: In a cohort of 275 patients with NDMM, risk factors for EM at 6, 12, and 24 months after diagnosis (EM6, EM12, and EM24, respectively) were determined to establish a model to predict EM. Results: The rates of EM6, EM12, and EM24 were 5.5% , 12.7% , and 30.2% , respectively. The most common cause for EM was disease progression/relapse, accounting for 60.0% , 77.1% , and 84.3% of EM6, EM12, and EM24, respectively. EM6 was associated with corrected serum calcium >2.75 mmol/L and platelet count <100×10(9)/L, whereas risk factors for EM12 included age >75 years, ISS Ⅲ, R-ISS Ⅲ, corrected serum calcium >2.75 mmol/L, serum creatinine >177 µmol/L, platelet count <100×10(9)/L, and bone marrow plasma cell ratio ≥ 60% . In addition to the risk factors for EM12, EM24 was also associated with male sex and 1q21 gain. By multivariate analysis, age >75 years, platelet count <100×10(9)/L, and 1q21 gain were independent risk factors for EM24 but there were no independent risk factors significantly associated with EM6 and EM12. Using a scoring system including these three risk factors, a Cox model for EM24 was generated to distinguish patients with low (score<3) and high (score ≥ 3) risk. The sensitivity and specificity of the model were 20.7% and 99.2% , respectively. Further, an internal validation performed in a cohort of 183 patients with NDMM revealed that the probability of EM24 in high-risk patients was 26 times higher than that in low-risk patients. Moreover, this model was also able to predict overall survival. The median overall survival of patients with scores of 0, 1, 2, 3, 4, and 5 were 59, 41, 22, 17.5, and 16 months, respectively. Conclusion: In the study cohort, the EM6, EM12, and EM24 rates were 5.5% , 12.7% , and 30.2% , respectively, and disease progression or relapse were main causes of EM. An EM24-predictive model built on three independent risk factors for EM24 (age>75 years, platelet count<100×10(9)/L, and 1q21 gain) might predict EM risk and overall survival.


Assuntos
Mieloma Múltiplo , Idoso , Humanos , Masculino , Recidiva Local de Neoplasia , Prognóstico , Estudos Retrospectivos , Fatores de Risco
4.
Eur Rev Med Pharmacol Sci ; 25(4): 2031-2038, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33660815

RESUMO

OBJECTIVE: The attention network is the structural basis of cognitive function. As one of the two known attention networks, the ventral attention network (VAN) has a significant impact on the cognitive impairment of patients with epilepsy. Nevertheless, changes in network homogeneity (NH) are rarely reported in the VAN of right temporal lobe epilepsy (rTLE) patients. Therefore, we explored the NH of the VAN in rTLE patients in this study. PATIENTS AND METHODS: Seventy rTLE patients and 69 healthy controls were recruited. All participants underwent resting-state functional magnetic resonance imaging (fMRI), which was the primary method of evaluation. The executive control reaction time (ECRT) was examined via the attentional network test. The Data Processing Assistant for Resting-State fMRI (DPARSF) was used to analyze NH. The independent component analysis (ICA) and correlation analysis were used in data analysis. RESULTS: Compared to the control group, patients with right temporal lobe epilepsy showed a lower NH in the right superior temporal gyrus, and a longer ECRT. However, abnormal NH values had no significant association with the clinical measurements. CONCLUSIONS: Patients with right temporal lobe epilepsy have abnormal NH values in the VAN, and the executive functions in rTLE patients are also altered. The altered NH values in VAN may help provide new insights into the pathophysiology of cognitive impairment in rTLE.

6.
Biochemistry (Mosc) ; 85(7): 749-757, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-33040719

RESUMO

Yanbian yellow cattle are one of the top five largest breeds of cattle in China. We had previously found that bta-miR-1271 is differentially expressed in the longissimus dorsi muscles of Yanbian yellow bulls and steers. However, whether bta-miR-1271 affects bovine fat formation is unclear. In this study, we used target gene prediction, dual-luciferase reporter assay, and transfection-mediated overexpression and inhibition of bta-miR-1271 in a culture of Yanbian yellow cattle preadipocytes to investigate the role of bta-miR-1271 in adipogenesis. We showed that bta-miR-1271 directly targets the 3'-untranslated region (3'-UTR) of the activating transcription factor 3 (ATF3) mRNA and downregulates its expression. Overexpression of bta-miR-1271 enforced by the miRNA mimics promoted triglyceride accumulation and significantly upregulated expression of the adipogenic peroxisome proliferator-activated receptor γ (PPARγ) and CCAAT enhancer-binding protein α (C/EBPα) genes at both the protein and mRNA levels, as demonstrated by RT-qPCR and Western blot analyses. Conversely, inhibition of bta-miR-1271 expression produced the opposite effect. Our results show that bta-miR-1271 regulates differentiation of Yanbian yellow cattle preadipocytes by inhibiting ATF3 expression, which highlights the importance of microRNA-mediated regulation of adipogenesis. miR-1271 and its target gene(s) may provide a new research direction for investigating biological agents affecting intramuscular fat deposition in cattle.


Assuntos
Fator 3 Ativador da Transcrição/genética , Adipócitos/citologia , Adipócitos/metabolismo , MicroRNAs/metabolismo , Fator 3 de Transcrição/metabolismo , Regiões 3' não Traduzidas , Fator 3 Ativador da Transcrição/metabolismo , Adipogenia/fisiologia , Animais , Bovinos , Diferenciação Celular/fisiologia , Células Cultivadas , Feminino , Masculino , MicroRNAs/genética , PPAR gama/metabolismo , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Fator 3 de Transcrição/genética
7.
J Biol Regul Homeost Agents ; 34(4): 1355-1368, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32907306

RESUMO

miR-382-3p can regulate apoptosis through multiple pathways, but the mechanism remains unknown. In this experiment, we explored whether miR-382-3p can modulate the N-methyL-D-aspartate (NMDA)- induced HT22 cell apoptosis by regulating the RhoC/ROCK1 signaling pathway. An excitatory neurotoxicity model of HT22 cells was induced in vitro with 2 mmol/L NMDA. The cells were divided into normal control, NMDA-induced, NMDA + miR-382-3p mimic, and NMDA + miR-382-3p inhibitor groups. The 3-(4,5)-dimethylthiahiazo (-z-y1)-3,5-di-phenytetrazoliumromide (MTT) method, Real-time PCR, Western blot, and flow cytometry were performed to investigate the mechanisms. The results found that NMDA can increase the oxidative stress of HT22 cells in a dose-dependent manner, downregulate the expression of miR-382-3p, upregulate the expression of mRNA and protein abundance of ROCK1 and RhoC, increase the expression levels of proapoptotic proteins Bax, Caspase-3, and Caspase-9, increase the apoptosis of HT22 cells, and reduce the activity and survival rate of HT22 cells. Compared with the NMDA-induced group, the miR-382-3p mimic-transfected HT22 cells increased the expression of miR- 382-3p, reduced the expression of the mRNA and protein abundance of ROCK1 and RhoC, inhibited the expression of proapoptotic proteins Bax, Caspase-3, and Caspase-9, reduced the apoptosis of HT22 cells, and increased the activity and survival rate of HT22 cells. The results suggest that increasing the expression of miR-382-3p can inhibit the activity of the RhoC/ROCK1 signaling pathway, reduce the expression of proapoptotic proteins, reduce the oxidative stress and apoptosis of HT22 cells, and increase the activity and survival rate of HT22 cells.


Assuntos
Apoptose , Linhagem Celular Tumoral , Humanos , MicroRNAs/genética , N-Metilaspartato/toxicidade , Transdução de Sinais , Quinases Associadas a rho , Proteína de Ligação a GTP rhoC
8.
Zhonghua Xue Ye Xue Za Zhi ; 41(1): 10-15, 2020 Jan 14.
Artigo em Chinês | MEDLINE | ID: mdl-32023748

RESUMO

Objective: To analyze the frequency and composition of risk-related cytogenetic abnormalities (CAs) in patients with newly-diagnosed multiple myeloma (NDMM) . Methods: The frequency and composition of risk-related CAs from a cohort of 1 015 Chinese patients with NDMM were determined by interphase fluorescence in situ hybridization (iFISH) , individually or in combination. Results: Of the cohort of 1 015 Chinese patients with NDMM, the frequencies of IgH arrangement, del (13q) /13q14, 1q gain and del (17p) were 54.0%, 46.4%, 46.1% (35.8% and 12. 7% for 3 or more than 3 copies) and 9.9%, respectively. Among 454 patients who had the baseline information for all risk-related CAs [except t (14;20) , which was not covered by the FISH panels performed routinely at all five centers], the frequencies of t (4;14) , t (11;14) or t (14;20) were 14.1%, 11.2% and 4.8%, respectively; of them, 44.3% patients carried 2 or more CAs (28.0%, 13.4% and 2.9% for 2, 3 or ≥4 CAs) ; 83.3%, 95.0% or 68.6% patients with 1q gain, del (17p) or IgH rearrangement had 1 or more additional CA (s) , with del (13q) /13q14 as the most frequently accompanied CA; 57.7% patients carried at least 1 HRCA; the incidences of double-hit (DH) MM (DHMM) (=2 HRCAs) and triple-hit (TH) (THMM) (≥3 HRCAs) were 14.3% and 2.9%, respectively. Conclusions: Our results provided an up-to-date profile of CAs in Chinese NDMM patients, which revealed that approximately 58% patients might carry at least 1 HRCA, and 17% could experience so-called DHMM or THMM who presumably had the worst outcome.


Assuntos
Mieloma Múltiplo , Aberrações Cromossômicas , Análise Citogenética , Humanos , Hibridização in Situ Fluorescente , Prognóstico , Estudos Retrospectivos
9.
Zhonghua Fu Chan Ke Za Zhi ; 53(12): 855-859, 2018 Dec 25.
Artigo em Chinês | MEDLINE | ID: mdl-30585025

RESUMO

Objective: To compare the etiological constitution of recurrent miscarriage (RM) between patients with consecutive two and three or more miscarriages through combining the routine examination results and embryonic karyotype. Methods: Patients with a history of two or more consecutive clinical miscarriages (≤12 weeks of gestation) consulting in the RM clinic of the First Affiliated Hospital of Sun Yat-sen University from March 2011 to January 2016 were collected. Six hundred and ninety-six with detailed history recorded, routine clinical examinations of RM and at least once embryonic karyotype were ultimately enrolled in this study. Their etiological constitution of RM were analyzed in groups of consecutive two and three or more miscarriage. The etiologies of RM in analysis consisted of women age, body mass index (BMI) , chromosome abnormalities of couples, uterine abnormalities, endocrinology abnormalities and antiphospholipid syndrome (APS) . Results: (1) Among 696 patients, the abnormal embryonic karyotypes was 60.6% (422/696) and routine RM etiologies was 32.2% (224/696) , leaving the ratio of unexplained RM was only 29.0% (202/696). (2) A total of 717 embryo karyotype were found in 696 patients, included21 cases with twice embryo karyotype results the percentage of normal embryo was 39.7% (285/717) , while abnormal ones was 60.3% (432/717). Among the types of abnormal karyotype, the most common ones (>10%) were trisomy 16 (19.2%, 83/432) , monosome X (11.3%, 49/432) and trisomy 22 (10.9%, 47/432). (3) Among the 696 RM patients, the number of two and three or more miscarriages were respectively 446 (64.1%, 446/696) and 250 (35.9%, 250/696). Comparing groups of three or more miscarriages with two miscarriages, there were significant differencein older age as well as uterine adhesion (P<0.05). But no difference was found in body mass index (BMI) , the rates of chromosome abnormalities of couples, uterine abnormalities except uterine adhesion, endocrinology abnormalities and APS (all P>0.05) between two groups. Conclusions: The abnormal embryonic karyotype is the most common cause of first-trimester RM. The etiological constitution of two and three or more recurrent miscarriages is accordant, suggesting that routine clinical examination and the embryonic karyotype should be started following two consecutive clinical early miscarriages.


Assuntos
Aborto Habitual/etiologia , Aborto Habitual/genética , Síndrome Antifosfolipídica/complicações , Índice de Massa Corporal , Aberrações Cromossômicas , Idade Materna , Doenças Uterinas/complicações , Aborto Habitual/epidemiologia , Síndrome Antifosfolipídica/epidemiologia , Cromossomos Humanos Par 16 , Cromossomos Humanos Par 22 , Feminino , Humanos , Cariotipagem , Mosaicismo , Gravidez , Trissomia , Doenças Uterinas/epidemiologia
10.
Zhonghua Yi Xue Za Zhi ; 98(45): 3711-3715, 2018 Dec 04.
Artigo em Chinês | MEDLINE | ID: mdl-30526785

RESUMO

Objective: To evaluate the clinical effects of percutaneous endoscopic transforaminal lumbar interbody fusion (PE-TLIF) for L(4/5) single-segment lumbar spinal stenosis. Methods: From September 2016 to March 2018, 7 patients with L(4/5) single-segment lumbar spinal stenosis were treated by PE-TLIF in the Department of Orthopedics, Beijing Chaoyang Hospital. There were 1 male and 6 females, with a mean age of (57±13) years(43-77 years). The operation time, intraoperative blood lose, blood transfusion and complications were recorded, and the pain relief effects were evaluated by visual analog scale (VAS) score and Oswestry dability index (ODI). The indexes before and after the operation were compared with t test. Results: The average of follow-up time was 13.3 months (6-21 months), and the clinical symptoms relieved significantly. The VAS scores of low back pain and leg pain at 3-day postoperatively and at the last follow-up were (2.28±0.48), (1.57±0.53) and (0.42±0.53), (0.14±0.37), respectively; and the VAS scores were significantly improved when compared with those before the operation[(7.42±0.78), (6.14±1.77)](t=19.718, 6.672, 18.520, 7.937, all P<0.05). At the last follow-up, the ODI score was also significantly lower than that before surgery (54%±10% and 15%±9%, t=12.551, P<0.05). During the follow-up period, one patient had transient hyperreflexia after surgery, and the other 6 patients had no significant complications. None nerve root injury or lower extremity paralysis occurred. Conclusion: PE-TLIF can obtain satisfactory short-term results in the treatment of single-segment lumbar spinal stenosis, with a lower incidence of complications and rapid recovery after surgery.


Assuntos
Fusão Vertebral , Estenose Espinal , Adulto , Idoso , Feminino , Humanos , Vértebras Lombares , Região Lombossacral , Masculino , Pessoa de Meia-Idade , Procedimentos Cirúrgicos Minimamente Invasivos , Estudos Retrospectivos , Resultado do Tratamento
11.
Artigo em Chinês | MEDLINE | ID: mdl-30419670

RESUMO

Objective: To explore the distribution and intensity of kitchen waste treatment plant, providing scientific basis for occupational diseases prevention and treatment in that industry. Methods: 30 operating personnel in a kitchen waste disposal enterprise were selected as the research group and 16 non-operating personnel as the control group. The epidemiological survey was carried out in June 2015 and July 2016, and the results of occupational hazards and occupational health monitoring during 2015 to 2017 were analyzed. Results: The results of various occupational hazards factors during 2015 to 2017 were all in accordance with the occupational health limit, but the results of occupational health examination were abnormal. The occupational correlation could not be ruled out by the abnormality of electrical audiometry, electrocardiogram and Department of Dermatology examination. Conclusion: Workers in kitchen waste treatment plant are likely to suffer low-intensity, continuous health damage. There is occupational health risk in that industry. The accumulation of basic information and the improvement of relevant standards and methods are needed for further study.


Assuntos
Resíduos de Alimentos , Doenças Profissionais/epidemiologia , Exposição Ocupacional/efeitos adversos , Instalações de Eliminação de Resíduos , Humanos
12.
Zhonghua Yi Xue Za Zhi ; 98(43): 3485-3489, 2018 Nov 20.
Artigo em Chinês | MEDLINE | ID: mdl-30481896

RESUMO

Objective: To assess the bio-mechanical properties of paraspinal muscles in adolescent idiopathic scoliosis (AIS). Methods: The MyotonPro® device and shear wave elasticity imaging(SWEI) technique were applied to detect the paraspinal muscle tone (F), stiffness (S), relaxation time (R), Deborah number (C) and elasticity (D) of paravertebral muscles on the concave side and convex side of scoliosis curvature at several points: apex of the curve (a), upper (b) and lower (c) limits of the curve in 23 cases of AIS treated from October to December 2017 in Beijing Chaoyang Hospital.Cobb angle of the main curve was measured on the standing anteroposterior whole spine radiograph.Pearson correlation analysis was applied to detect the relation between the bio-mechanical properties and Cobb angle of the main curve. Results: A total of 23 AIS patients [3 males and 20 females, mean age was (15±4) years] were assessed in this study.The mean Cobb angle was (66±33) degrees.The MyotonPro® data showed that the muscle tone on the concave side were all significantly greater than those on the convex side [a: (18.9±2.2) Hz vs (17.4±1.6) Hz, t=4.435, P<0.05; b: (18.2±2.0) Hz vs (16.7±1.7) Hz, t=4.183, P<0.05; c: (18.0±2.3) Hz vs (16.8±1.7) Hz, t=4.520, P<0.05]. The muscle stiffness on the concave side were all significantly greater than those on the convex side at the three points (t=1.974, 2.048, 1.749, all P<0.05). The relaxation time were all longer on the convex side (t=-3.422, -2.713, -2.380, all P<0.05). The Deborah number were greater on the convex side at a and b points (t=-2.939, -2.466, both P<0.05). No significant difference in elasticity was found between the muscles of the two sides.The SWEI results also indicated that the elasticity of the paraspinal muscles of the two sides were similar.The Pearson correlation analysis showed that stiffness on the concave side was moderate positively correlated with Cobb angle of the main curve (r=0.582, P<0.05). Deborah number on the two sides and relaxation time on the concave were moderate negatively correlated with Cobb angle of the main curve (r=-0.632, -0.432, -0.611, all P<0.05). Conclusions: The bio-mechanical properties of paraspinal muscles in AIS are different significantly between the concave and convex side and affected by the severity of scoliosis.


Assuntos
Músculos Paraespinais , Escoliose , Adolescente , Criança , Feminino , Humanos , Cifose , Masculino , Radiografia , Adulto Jovem
13.
J Biol Regul Homeost Agents ; 32(2): 241-249, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29685002

RESUMO

The aim of this study is to formulate nursing schemes for elderly tumor patients after surgery according to their clinical characteristics, and give effective guidance for alleviating the patients’ psychological anxiety. One hundred elderly tumor patients admitted to the oncology department of the Affiliated Cancer Hospital of Harbin Medical University were included and divided into an intervention group (50) and a control group (50). Nursing intervention was performed on the intervention group, and routine nursing was performed in the control group. One day before surgery, all the patients were asked to fill in a self-rating anxiety scale (SAS) and a self-rating depression scale (SDS), and their blood pressure and heart rate data were measured. After surgery, the patients were asked to fill in a form which investigated their pain degree, recovery situation and satisfaction degree. The heart rate and blood pressure of the patients in the intervention group recovered faster than those of the control group, with lower SAS and SDS scores and shorter recovery time. In conclusion, effective nursing intervention played a crucial role in the postoperative recovery of elderly tumor patients by reducing pain and anxiety degrees, which improved the patients’ satisfaction with the nursing.


Assuntos
Neoplasias/enfermagem , Neoplasias/psicologia , Procedimentos Cirúrgicos Operatórios/enfermagem , Procedimentos Cirúrgicos Operatórios/psicologia , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias/cirurgia , Período Pós-Operatório , Inquéritos e Questionários
14.
Zhonghua Er Ke Za Zhi ; 55(11): 813-817, 2017 Nov 02.
Artigo em Chinês | MEDLINE | ID: mdl-29141310

RESUMO

Objective: To summarize the gene mutation of early onset epileptic spasm with unknown reason. Method: In this prospective study, data of patients with early onset epileptic spasm with unknown reason were collected from neurological department of Children's Hospital of Fudan University between March 2016 and December 2016. Patients with known disorders such as infection, metabolic, structural, immunological problems and known genetic mutations were excluded. Patients with genetic disease that can be diagnosed by clinical manifestations and phenotypic characteristics were also excluded. Genetic research methods included nervous system panel containing 1 427 epilepsy genes, whole exome sequencing (WES), analysis of copy number variation (CNV) and karyotype analysis of chromosome. The basic information, phenotypes, genetic results and the antiepileptic treatment of patients were analyzed. Result: Nine of the 17 cases with early onset epileptic spasm were boys and eight were girls. Patients' age at first seizure onset ranged from 1 day after birth to 8 months (median age of 3 months). The first hospital visit age ranged from 1 month to 2 years (median age of 4.5 months). The time of following-up ranged from 8 months to 3 years and 10 months. All the 17 patients had early onset epileptic spasm. Video electroencephalogram was used to monitor the spasm seizure. Five patients had Ohtahara syndrome, 10 had West syndrome, two had unclear classification. In 17 cases, 10 of them had detected pathogenic genes. Nine cases had point mutations, involving SCN2A, ARX, UNC80, KCNQ2, and GABRB3. Except one case of mutations in GABRB3 gene have been reported, all the other cases had new mutations. One patient had deletion mutation in CDKL5 gene. One CNV case had 6q 22.31 5.5MB repeats. Ten cases out of 17 were using 2-3 antiepileptic drugs (AEDs) and the drugs had no effect. Seven cases used adrenocorticotropic hormone (ACTH) and prednisone besides AEDs (a total course for 8 weeks). Among them, five cases had no effect and two cases were seizure free recently. A case with GABRB3 (C.905A>G) had seizure controlled for 3 mouths. A case with ARX (C.700G>A) had seizure controlled for 6 mouths. Conclusion: The early onset epileptic spasm with unknown reason is highly related to genetic disorders. A variety of genetic mutations, especially new mutations were found. Genetic heterogeneity of epileptic spasm is obvious.


Assuntos
Epilepsia/genética , Espasmos Infantis/genética , Hormônio Adrenocorticotrópico , Anticonvulsivantes/uso terapêutico , Variações do Número de Cópias de DNA , Eletroencefalografia , Epilepsia/tratamento farmacológico , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Mutação , Estudos Prospectivos , Convulsões , Espasmo , Espasmos Infantis/tratamento farmacológico
15.
J Biol Regul Homeost Agents ; 31(2): 395-398, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28685543

RESUMO

Diabetes shows no obvious clinical symptoms in the early stage, which makes it difficult to be detected; however, as a common and frequently occurring disease, its morbidity increases with the improvement in the standard of living. Therefore, early detection, diagnosis and treatment of diabetes are of great importance. This study investigated the application values of urinary albumin (Alb), immunoglobulin G (IgG) and Beta-microglobulin (ß2mG) in the diagnosis of diabetes. Seventy-four elderly patients with confirmed diabetes who were admitted to the Central Hospital of Zibo from May 2014 to May 2015 were taken as an observation group, and fifty normal healthy people were taken as a control group. Levels and positive detection rates of Alb, IgG and ß2mG in the two groups were compared. The results showed that the levels of Alb, IgG and ß2mG of the observation group were higher than those of the control group, and the positive detection rates of Alb, IgG and ß2mG were 74.3%, 62.2% and 67.6%, respectively, which were higher than 6%, 16% and 12% in the control group; the differences were all statistically significant (P less than 0.05). The difference of the content of Alb, IgG and ß2mG between patients with different disease courses was statistically significant (P less than 0.05). Therefore, Alb, IgG and ß2mG levels are closely related to severity of diabetes, which provides a medical reference to the diagnosis and examination of diabetes and has important clinical values.


Assuntos
Albuminúria/urina , Diabetes Mellitus/diagnóstico , Diabetes Mellitus/urina , Imunoglobulina G/urina , Microglobulina beta-2/urina , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
17.
Zhonghua Xue Ye Xue Za Zhi ; 38(4): 307-312, 2017 Apr 14.
Artigo em Chinês | MEDLINE | ID: mdl-28468092

RESUMO

Objective: To assess the efficiency and safety of low-dose decitabine in patients with lower-risk myelodysplastic syndrome (MDS) to couple with the clinical significance of MDS-related gene mutations. Methods: This study was done in 4 institutions in Zhejiang Province. A total of 62 newly diagnosed patients with lower-risk MDS were assigned to two groups of decitabine (12 mg·m(-2)·d(-1) for 5 consecutive days) and best supportive care (BSC) . Their bone marrow samples were subject to examinations of MDS-related 15 gene mutations. The primary endpoints were the proportion of patients who achieved overall response (ORR) after at least two cycles and progression-free survival (PFS) , and their relevances to the gene mutations. Results: Of 62 enrolled patients, and 51 cases were included in the final analysis. 16 of 24 patients (66.7%) in decitabine group achieved ORR versus 8 of 27 (29.6%) in BSC group (χ(2)=6.996, P=0.008) ; PFS prolongation of decitabine versus BSC was statistically significant (not reached vs 13.7 months, P=0.037) . Among 51 patients, at least one gene mutation was identified in 20 patients (39.2%) , including 4 single SF3B1 mutation. PFS in cases with gene mutations (not including single SF3B1 mutation) was significantly shorter than of no gene mutation (9.2 months vs 18.5 months, P=0.008) , but not for ORR (37.5% vs 58.1%, P=0.181) . Among 16 patients with mutated genes, ORR in decitabine and BSC groups were 75% (6/8) and 0 (0/8) , respectively. The most adverse events in decitabine group were grade 3 to 4 neutropenia (45.8%) and grade 3 to 4 infections (33.3%) . Conclusion: This preliminary study showed that low-dose decitabine produced promising results with an acceptable safety in lower-risk MDS patients, especially for those with mutated genes. Further study targeting poor prognostic lower-risk MDS patients should be warranted.


Assuntos
Mutação , Síndromes Mielodisplásicas , Antimetabólitos Antineoplásicos , Azacitidina/análogos & derivados , Decitabina , Intervalo Livre de Doença , Humanos , Prognóstico , Risco , Resultado do Tratamento
18.
Zhonghua Jie He He Hu Xi Za Zhi ; 40(4): 267-271, 2017 Apr 12.
Artigo em Chinês | MEDLINE | ID: mdl-28395405

RESUMO

Objective: We evaluated the effects of administering oxygen through nasal catheters inside the mask or through the mask on percutaneous oxygen partial pressure (PcO(2))and percutaneous carbon dioxide partial pressure (PcCO(2)) during noninvasive positive pressure ventilation (NPPV) to find a better way of administering oxygen, which could increase PcO(2) by increasing the inspired oxygen concentration. Methods: Ten healthy volunteers and 9 patients with chronic obstructive pulmonary disease complicated by type Ⅱ respiratory failure were included in this study. Oxygen was administered through a nasal catheter inside the mask or through the mask (oxygen flow was 3 and 5 L/min) during NPPV. PcO(2) and PcCO(2) were measured to evaluate the effects of administering oxygen through a nasal catheter inside the mask or through the mask, indirectly reflecting the effects of administering oxygen through nasal catheter inside the mask or through the mask on inspired oxygen concentration. Results: Compared to administering oxygen through the mask during NPPV, elevated PcO(2) was measured in administering oxygen through the nasal catheter inside the mask, and the differences were statistically significant (P<0.05). At the same time, there was no significant change in PcCO(2) (P>0.05). Conclusion: Administering oxygen through a nasal catheter inside the mask during NPPV increased PcO(2) by increasing the inspired oxygen concentration but did not increase PcCO(2). This method of administering oxygen could conserve oxygen and be suitable for family NPPV. Our results also provided theoretical basis for the development of new masks.


Assuntos
Dióxido de Carbono/administração & dosagem , Máscaras , Ventilação não Invasiva , Oxigênio/administração & dosagem , Pressão Parcial , Respiração com Pressão Positiva , Doença Pulmonar Obstrutiva Crônica/terapia , Insuficiência Respiratória/terapia , Estudos de Casos e Controles , Cateteres , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doença Pulmonar Obstrutiva Crônica/complicações , Insuficiência Respiratória/complicações , Resultado do Tratamento
19.
Zhonghua Er Ke Za Zhi ; 55(1): 50-53, 2017 Jan 02.
Artigo em Chinês | MEDLINE | ID: mdl-28072960

RESUMO

Objective: To investigate the clinical features and genetic characteristics of patients with TBC1D24 gene mutations. Method: The clinical data of a patient with novel TBC1D24 compound heterozygous mutations from Children's Hospital of Fudan University were collected, the related literature was searched from China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, National Center from Biotechnology Information and Pubmed (up to April 2016) by using search terms "TBC1D24" "epilepsy" . The clinical features, electroencephalogram (EEG) and prognosis of the patients with TBC1D24 gene mutations were studied. Result: The patient was a boy with non-consanguineous healthy parents.He had an acute episode of focal continuous myoclonus lasting a few hours with consciousness preserved at the age of 3 months.Myoclonic jerks alternatively affected the eyelids, either the right or left limbs, sometimes triggered by fever or fatigue.The frequency was once 3-7 days.At the age of 6 months he was found to have myoclonus seizures with onset from a unilateral eyes lid and limb lasting 10 more minutes and subsequently affected four extremities or the trunk.They occurred once 3-4 months with perserved consciousness and lasted from several hours to up to ten more hours.They mostly disappeared during sleep.He had ataxia and mild mental retarding.Paroxysmal anomalies were not found on ictal traces.A novel compound heterozygous mutation of TBC1D24 gene, c. 730G>A, p.A244T and c. 1571G>C, p.R524P were found in the patient.Further study showed that c. 730G>A mutation was inherited from his father and c. 1571G>C from his mother. These two were not reported in public databases and predicted deleterious by Mutation Taster and polyphen-2.Literature relevant to TBC1D24 published all around the world was reviewed, no Chinese cases with TBC1D24 gene mutations had been reported. The total of 24 cases including the present case with TBC1D24 gene mutation were reported.Among them, 11 cases had compound heterozygous mutations and 13 cases had homozygous mutations.Ten mutations were identified, including 1 termination mutation, 1 frameshift mutation and 8 missense mutations. Conclusion: TBC1D24 gene mutational analysis should be performed on patients with early-onset focal continuous myoclonus, if the etiology was unclear.


Assuntos
Proteínas de Transporte/genética , Epilepsias Mioclônicas/genética , Mutação de Sentido Incorreto , Criança , Eletroencefalografia , Epilepsia , Proteínas Ativadoras de GTPase , Homozigoto , Humanos , Lactente , Deficiência Intelectual , Masculino , Proteínas de Membrana , Proteínas do Tecido Nervoso , Espasmos Infantis
20.
Artigo em Chinês | MEDLINE | ID: mdl-29871312

RESUMO

The main clinical manifestations were respiratory distress,perioral cyanosis and Upper respiratory obstruction symptoms.The epiglottis opened by laryngoscope,can see a gray white semi elliptical sacs.Clinical diagnosis:congenital cyst of epiglottis.


Assuntos
Obstrução das Vias Respiratórias/congênito , Cistos/congênito , Epiglote/cirurgia , Doenças da Laringe/congênito , Obstrução das Vias Respiratórias/cirurgia , Cistos/complicações , Cistos/cirurgia , Epiglote/patologia , Humanos , Recém-Nascido , Doenças da Laringe/complicações , Doenças da Laringe/cirurgia , Laringoscopia , Resultado do Tratamento
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