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1.
BMC Musculoskelet Disord ; 25(1): 94, 2024 Jan 25.
Artigo em Inglês | MEDLINE | ID: mdl-38273316

RESUMO

Anterior cruciate ligament (ACL) injuries are often caused by high impact loadings during competitive sports but may also happen during regular daily activities due to tissue degeneration or altered mechanics after a previous knee injury or surgery such as meniscectomy. Most existing research on ACL injury has focused on impact loading scenarios or the consequence of ACL injury on meniscus. The objective of the present study was to investigate the effects of varying degrees of medial meniscectomy on the mechanics of intact ACL by performing a poromechanical finite element analysis under moderate creep loadings. Four clinical scenarios with 25%, 50%, 75% and total medial meniscectomy were compared with the intact knee finite element model. Our results suggested that different medial meniscal resections may increase, at different extents, the knee laxity and peak tensile stress in the ACL, potentially leading to collagen fiber fatigue tearing and altered mechanobiology under normal joint loadings. Interestingly, the ACL stress actually increased during early knee creep (~ 3 min) before it reached an equilibrium. In addition, meniscectomy accelerated ACL stress reduction during knee creep, transferred more loading to tibial cartilage, increased contact pressure, and shifted the contact center posteriorly. This study may contribute to a better understanding of the interaction of meniscectomy and ACL integrity during daily loadings.


Assuntos
Lesões do Ligamento Cruzado Anterior , Meniscectomia , Humanos , Meniscectomia/efeitos adversos , Lesões do Ligamento Cruzado Anterior/cirurgia , Meniscos Tibiais/cirurgia , Articulação do Joelho/cirurgia , Tíbia/cirurgia , Fenômenos Biomecânicos
2.
Zhonghua Gan Zang Bing Za Zhi ; 32(1): 40-48, 2024 Jan 20.
Artigo em Chinês | MEDLINE | ID: mdl-38320790

RESUMO

Objective: To investigate whether circular RNA 0026134 (circ_0026134) affects the radiosensitivity of hepatoma cells by regulating the miR-1270/growth factor receptor-bound protein 2 (GRB2) pathway. Methods: Real-time quantitative PCR (RT-qPCR) was used to detect the expression levels of circ_0026134, miR-1270, and GRB2 in liver cancer tissues and cells. Bioinformatics analysis, a dual-luciferase gene reporter assay, RT-qPCR, and western blot were used to analyze the targeting relationships between circ_0026134 and miR-1270 and miR-1270 and GRB2. The effects of circ_0026134, miR-1270, and GRB2 expression combined with 6 Gy on the proliferation, invasion, migration, and apoptosis of Huh7 and SK-HEP-1 cells were detected by a cell counting kit, a transwell assay, a scratch assay, and flow cytometry. The tumorigenesis experiment was used to detect the effect of silencing circ_0026134 in nude mice. Measurement data are expressed as the mean ± standard deviation. The independent sample t-test was used for comparison between two groups, and the one-way analysis of variance and SNK-q test were used for comparison between multiple groups. P < 0.05 was considered statistically significant. Results: The expression levels of circ_0026134 and GRB2, Huh7, and SK-HEP-1 cells in liver cancer tissues were significantly increased, while the expression levels of miR-1270 were significantly decreased (P < 0.05). The expression of circ_0026134 in Huh7 and SK-HEP-1 decreased significantly after radiotherapy (P < 0.05). circ_0026134 binds directly to miR-1270 and negatively regulates miR-1270 expression (P < 0.05). miR-1270 binds directly to GRB2 and negatively regulates GRB2 expression (P < 0.05). 6 Gy radiation significantly inhibited the proliferation, migration, and invasion of Huh7 and SK-HEP-1 cells and induced apoptosis (P < 0.05). Silencing circ_0026134 or overexpression of miR-1270 significantly enhanced the anti-proliferation, anti-migration, invasion, and pro-apoptosis effects of 6 Gy treatment on hepatoma cells (P < 0.05). Inhibition of miR-1270 significantly weakened the effects of silencing circ_0026134 combined with 6 Gy radiation on proliferation, migration, invasion, and apoptosis of hepatoma cells (P < 0.05). Overexpression of GRB2 significantly weakened the effects of miR-1270 overexpression combined with 6 Gy radiation on proliferation, migration, invasion, and apoptosis of hepatoma cells (P < 0.05). circ_0026134 knockdown significantly delayed tumor growth in vivo (P < 0.05). Conclusion: Silencing circ_0026134 strengthens radiation treatment's anti-proliferation, anti-migration, invasion, and pro-apoptotic effects in hepatoma cells by negatively regulating the miR-1270/GRB2 pathway, thereby enhancing radiosensitivity.


Assuntos
Carcinoma Hepatocelular , Neoplasias Hepáticas , MicroRNAs , Animais , Camundongos , Carcinoma Hepatocelular/genética , Camundongos Nus , Tolerância a Radiação , Neoplasias Hepáticas/genética , Apoptose , MicroRNAs/genética , Proliferação de Células , Linhagem Celular Tumoral , Movimento Celular
3.
Zhonghua Bing Li Xue Za Zhi ; 51(9): 861-867, 2022 Sep 08.
Artigo em Chinês | MEDLINE | ID: mdl-36097903

RESUMO

Objective: To investigate the clinicopathological characteristics of pancreatic lesions in children. Methods: The clinicopathological data of pancreatic lesions in children were analyzed including 42 cases of pancreatic tumors diagnosed from January 2000 to May 2021 in Guangzhou Women's and Children's Medical Center, Guangzhou, China. Histological and immunohistochemical assessments were performed. Related literature was reviewed. Results: The 42 pediatric patients with pancreatic lesions aged 1 day to 12 years (mean, 4.25 years). There were 23 males and 19 females. Clinical presentations included abdominal masses, abdominal pain, vomiting and persistent hypoglycemia after birth. Ultrasound and computerized tomography examination showed space-occupying pancreatic lesions in 31 cases, but no detectable pancreatic lesions in 11 cases. Histologically, among the 42 cases, 22 cases (52.4%) were neoplastic, including 18 cases of epithelial origin. Nine cases of pancreatoblastoma showed that the epithelial tumor cells were arranged in a trabecular pattern, with squamous nests. Six cases of solid-pseudopapillary tumors revealed hemorrhagic and necrotic cysts and monomorphic epithelioid cells arranged in solid sheets, nests or pseudopapillae. Two cases of neuroendocrine tumors showed tumor cells arranged in cords or nests; one case had a mitotic count of about 3/10 high power field, and a Ki-67 index of about 5%, which was consistent with G2 neuroendocrine tumor; the other case showed tumor cells with cytological atypia, brisk mitoses, about 25/10 HPF and a Ki-67 index of about 80%, consistent with small-cell type neuroendocrine carcinoma. The case of acinar cell carcinoma showed high cellularity, tumor cells in solid, cord-like or acinar-like arrangement with little stroma, and monotonous tumor cells with single distinct nucleolus. There were 4 cases of mesenchymal tumors, including 3 cases of Kaposi's hemangioendothelioma and 1 case of inflammatory myofibroblastic tumor. Among the 20 cases (47.6%) of non-neoplastic lesions, there were 11 cases of hyperinsulinism with ATP-sensitive potassium channel abnormality (HAPCA). Severn cases of diffuse type HAPCA in which the islets scattered between the pancreatic acinar tissue, enlarged, and prominent nuclei. Three cases of focal type HAPCA showed pancreatic islet hyperplasia in the form of nested nodules (0.6-1.5 cm). One case of atypical type HAPCA had extensive islet hyperplasia in pancreatic tissue, and scattered proliferation of nest-like nodules was noted. There were also 7 cases of pseudocyst and 2 cases of congenital cyst. Immunohistochemically, pancreatoblastomas were diffusely positive for CKpan, CK8/18, and ß-catenin (nuclear staining of squamous nests only). Solid-pseudopapillary tumors expressed CD10, cyclin D1, CD99, vimentin, CD56, and ß-catenin (nuclear staining). Neuroendocrine tumors were positive for CK, Syn, NSE, CgA, CD56, and ß-catenin (membranous staining). The acinar cell carcinoma was positive for CK8/18, trypsin, and ß-catenin (membranous staining). Conclusions: Pancreatic lesions in children have a wide range of histopathological types. HAPCA is the most common lesion of newborns. Pediatric pancreatic tumors are rare and mostly malignant. It is important to recognize them and make correct pathological diagnoses.


Assuntos
Carcinoma de Células Acinares , Carcinoma de Células Escamosas , Tumores Neuroendócrinos , Neoplasias Pancreáticas , Carcinoma de Células Acinares/patologia , Criança , Feminino , Humanos , Hiperplasia , Recém-Nascido , Antígeno Ki-67 , Masculino , Neoplasias Pancreáticas/metabolismo , beta Catenina/análise
4.
Artigo em Chinês | MEDLINE | ID: mdl-35785906

RESUMO

Ultraviolet radiation affects human health. On the one hand, moderate amounts of UV radiation can promote human health and have the effect of promoting vitamin D production; but on the other hand, excessive UV radiation can also cause adverse effects on human skin and eyes, such as causing skin photoaging, skin cancer, electrophthalmia and cataracts to occur. Therefore, the measurement of ultraviolet radiation is extremely important. This paper mainly reviews the health effects of ultraviolet radiation and the progress of measurement standards in the workplace, and puts forward suggestions on the revision of the existing standards from five aspects including use new measuring instruments and methods, improve the existing measuring instruments, specify the number of measurements, expand the scope of application of the standards and consider the influence of the sun on the measurement of artificial ultraviolet radiation, so as to provide reference for the revision of new standards.


Assuntos
Neoplasias Cutâneas , Raios Ultravioleta , Humanos , Pele , Neoplasias Cutâneas/etiologia , Raios Ultravioleta/efeitos adversos , Vitamina D/efeitos da radiação , Local de Trabalho
5.
Zhonghua Bing Li Xue Za Zhi ; 50(9): 1029-1033, 2021 Sep 08.
Artigo em Chinês | MEDLINE | ID: mdl-34496494

RESUMO

Objective: To investigate the clinicopathological features of hepatic vascular tumors in children. Methods The clinical characteristics, histology and immunohistochemical staining results were summarized and analyzed in 22 cases of hepatic vascular tumors in children at Guangzhou Women and Children's Medical Center from September 2007 to November 2020. Results: The 22 patients aged from 1.0 month to 2.5 years (mean age 9 months). There were 10 males and 12 females. Five cases were found in premature and had low birth weight infants; three cases were discovered in the antenatal period; one patient also had cutanous hemangioma; six patients had associated anemia; Kasabach-Merritt phenomenon was not seen in any patient. CT examination showed 17 tumors were solitary and five were multifocal lesions. Macroscopically, the tumors size ranged from was 0.6 cm to 11.0 cm; the cut surface was solid, gray red and brown in color, and in six cases there were hemorrhage and necrosis in the central area. Microscopically,15 cases of solitary congenital hepatic hemangiomas showed characteristic necrosis in the central area, with loose fibrous tissues at periphery. Proliferation of capillaries, residual bile ducts between the vascular lumens, and dilated thrombosed vascular channels were seen, and contained extramedullary hematopoietic foci and calcification. Five cases of multiple hepatic infantile hemangiomas showed capillaries of different sizes composing of plump endothelium and pericytes and were arranged in lobular or diffuse patterns. Two cases of cavernous hemangioma (venous malformation) consisted of dilated thin-walled blood vessels with branch-like pattern lined with flat endothelial cells. Immunohistochemically, all 22 case expressed vascular endothelial markers CD31 and CD34, but D2-40 was negative. Glut1 was positive in five cases of multiple hepatic infantile hemangiomas, and the other cases were negative. Conclusion: Hepatic vascular tumors in children are rare, and their classification is different from that of adults. It is of great significance to make clear pathologic diagnosis.


Assuntos
Hemangioma , Síndrome de Kasabach-Merritt , Neoplasias Vasculares , Criança , Células Endoteliais , Feminino , Humanos , Lactente , Fígado , Masculino , Gravidez
6.
Zhonghua Bing Li Xue Za Zhi ; 50(10): 1145-1150, 2021 Oct 08.
Artigo em Chinês | MEDLINE | ID: mdl-34619868

RESUMO

Objective: To investigate the clinicopathological features of gonadal neoplastic related lesions in children with disorders of sexual development (DsD). Methods: The clinical manifestations, chromosomal karyotype, histology and immunophenotype of 12 cases of neoplastic related lesions from Guangzhou Women and Children's Medical Center, Guangzhou were analyzed during Jan 2015 to May 2020. Results: Twelve cases of neoplastic related lesions were screened in 205 cases of DsD, and 6 patients with gonadal germ cell neoplasia aged 3-13 years with an average age of 8.3 years. There were 2 males and 4 females. Clinical features showed malformation of external genitalia in 2 cases, short stature in 2 cases, clitoral enlargement in 1 case, lower abdominal pain and a huge pelvic mass in 1 case. Chromosomal karyotyping of peripheral blood showed 2 cases of 46XY and 4 cases of 45X/46XY. Fourteen gonadal specimens were examined. Microscopically, 1 case showed dysgerminoma in left ovary, and malignant mixed germ cell tumors in right ovary, as well as gonadoblastoma (GB) and undifferentiated gonadal tissue (UGT). The remaining 5 cases were all precursor lesions of germ cell tumor. Six specimens showed GB, 3 of UGT, and 3 specimens showed germ cell neoplasia in situ (GCNIS), one of which was accompanied by intratubular seminoma and 1 was GB with GCNIS. The other 6 patients with DsD were aged from 8 months to 2 years and 5 months, including 5 males and 1 females. Clinical manifestations showed 5 cases of hypospadias and 1 case of bilateral indirect inguinal hernia. Microscopically, 6 cases showed maturation delay of gonocytes in seminiferous tubules. Immunohistochemically, the primordial germ cells/gonocytes expressed OCT3/4, PLAP and c-KIT in the 12 cases. Conclusion: Gonadal neoplasia in children with DsD is mainly precursor lesions of germ cell tumor and improved understanding of these lesions is of great significance.


Assuntos
Transtornos do Desenvolvimento Sexual , Gonadoblastoma , Neoplasias Embrionárias de Células Germinativas , Neoplasias Ovarianas , Neoplasias Testiculares , Criança , Feminino , Gonadoblastoma/genética , Gonadoblastoma/cirurgia , Humanos , Masculino
7.
Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi ; 38(11): 834-838, 2020 Nov 20.
Artigo em Chinês | MEDLINE | ID: mdl-33287477

RESUMO

Objective: To explore the psychological status of medical staff during COVID-19 epidemic, so as to provide reference and scientific basis for carrying out further psychological intervention and ensuring the mental health of medical staff. Methods: By using convenient sampling method and the Stresss-Anxiety ubscale of Depression Anxiety Stress (DASS-21) , the mental health status of 615 medical staff was investigated by the way of questionnaire star from February 4 to 16, 2020. A total of 615 questionnaires were distributed and collected, and 615 were valid, with an effective recovery rate of 100%. Results: The detection rates of psychological stress and anxiety of medical staff were 13.82% (85/615) and 25.37% (156/615) , respectively. 31-40 years old and working in key departments were risk factors for psychological stress of medical staff (OR=1.779, 2.127) ; Women, frequently washing hands with soap/hand sanitizer/disinfectant were protective factors for psychological stress (OR=0.520, 0.528) . Medical staff working in designated hospitals and key departments were more likely to have anxiety (OR=2.042, 2.702) ; The high fit of the mask to the face and bridge of the nose was a protective factor for the psychological anxiety of medical staff (OR=0.500) . Conclusion: Medical staff show higher stress and anxiety during the epidemic of COVID-19. Psychological intervention should be carried out early, focusing on men, age 31 to 40, medical staff working in designated hospitals and key departments.


Assuntos
COVID-19 , Depressão , Corpo Clínico , Estresse Psicológico , Adulto , Ansiedade , Feminino , Nível de Saúde , Humanos , Masculino , Corpo Clínico/psicologia , Pandemias , SARS-CoV-2
8.
Zhonghua Yi Xue Za Zhi ; 99(33): 2615-2618, 2019 Sep 03.
Artigo em Chinês | MEDLINE | ID: mdl-31510723

RESUMO

Objective: To explore the clinical features and genetic causes of autism spectrum disorder (ASD) patients with epilepsy. Methods: The clinical data of five patients with ASD and epilepsy admitted to Xuanwu Hospital between September 2017 and September 2018 were collected, including medical history, intelligence level, developmental level, physical examination, neuroimaging and electroencephalogram. High-throughput whole-genome sequencing was applied to five patients and their parents. Results: Of five patients, four were male and one was female. All five patients had mild mental retardation, and one patient had significant growth retardation and craniofacial deformity. The average epilepsy onset age was 6.3 years old (7 months to 16 years). The main epileptic type was tonic-clonic seizure with abnormal EEG results. All patients have a favorable response to anti-epileptic drugs. Whole-exome sequencing (WES) revealed copy number variation in all 5 patients. Among them, 3 cases were reported to be pathogenic, and 2 cases were not reported (chromosome 16p13.3 duplication and chromosome 21q22.3 deletion). Conclusions: The results of current study support that autism spectrum disorders with seizures is often associated with copy number variations, such as Williams-Beuren region duplication syndrome, chromosome 15q11.2 duplication syndrome and chromosome 15q11.2 deletion syndrome. We reported two novel copy number variations (chromosome 16p13.3 duplication and chromosome 21q22.3 deletion) in two autism spectrum disorder patients with epileptic seizures.


Assuntos
Transtorno do Espectro Autista , Epilepsia , Adolescente , Transtorno do Espectro Autista/complicações , Criança , Pré-Escolar , Aberrações Cromossômicas , Cromossomos Humanos , Variações do Número de Cópias de DNA , Epilepsia/complicações , Feminino , Humanos , Lactente , Masculino , Convulsões
10.
Zhonghua Yi Xue Za Zhi ; 98(6): 445-449, 2018 Feb 06.
Artigo em Chinês | MEDLINE | ID: mdl-29429257

RESUMO

Objective: To investigate the clinical features and genetic characteristics of patients with TBC1D24 gene mutation related early-onset focal myoclonic epilepsy. Methods: Clinical data of 3 patients with TBC1D24 gene mutation related early-onset focal myoclonic epilepsy of Xuanwu Hospital from November 2016 to June 2017 was collected and analyzed.Candidate gene mutations were screened by second generation sequencing. Results: Among the 3 patients, 1 was male and 2 were females.Seizure onset age was 4 months, 3 years and 5 years after birth respectively. Two patients had family history of epilepsy.They all had prolonged episodes of focal myoclonus. Two patients had mental retardation.Scalp electroencephalograms (EEG) was recorded in all 3 cases and myoclonic seizures were captured.The ictal EEGs were normal in all cases. In one patient, the ictal EEG of generalized seizure showed alpha rhythm originating from left fronto-central region. Brain magnetic resonance imaging (MRI) was normal in 2 patients. Abnormal signal was found bilaterally in cerebellum in 1 patient. The gene screening showed that two patients carried compound heterozygous mutation of TBC1D24 gene and one carried homozygous mutation, all of which were de novo mutations.All the patients were treated with multiple antiepileptic drugs (AEDs) and seizures were uncontrolled in 2 patients. One patient was followed up for 10 months without recurrence. Conclusions: TBC1D24 gene related early-onset focal myoclonic epilepsy is clinically characterized by early onset, prolonged focal myoclonus which relieved with sleep, mental retardation and poor response to AEDs.The interictal and ictal EEG usually show normal. Genetic analysis can assist in diagnosis and genetic counseling.


Assuntos
Epilepsias Mioclônicas , Proteínas de Transporte , Eletroencefalografia , Feminino , Proteínas Ativadoras de GTPase , Testes Genéticos , Humanos , Masculino , Proteínas de Membrana , Mutação , Proteínas do Tecido Nervoso
12.
Zhonghua Bing Li Xue Za Zhi ; 47(7): 531-535, 2018 Jul 08.
Artigo em Chinês | MEDLINE | ID: mdl-29996319

RESUMO

Objective: To investigate the pathologic features of gonadal tissues of disorders of sexual development (DSD) in children. Methods: Fifty-three cases of gonadal developmental disorders were collected from July 2015 to August 2017 at Guangzhou Women and Children's Medical Center. Clinical manifestations, karyotypes, sex hormone levels, ultrasound imaging, histology and immunophenotype of gonadal tissues were analyzed. Results: The age of patients ranged from 7 months to 17 years with an average of (50.7 ± 47.1) months. Social genders of the patients included 32 males and 21 females. Forty-eight patients had abnormal sex hormone levels. Clinical presentations included: toward female genitalia in 25 cases, male genitalia tendency in 17 cases and ambiguous external genitalia in 11 cases. Hypospadias was seen in 31 cases and short stature was seen in 8 cases. Chromosomal karyotyping of peripheral blood revealed 23 cases of sex chromosome disorders, 22 cases of 46 XY disorders, of which 3 cases were 5α-reductase deficiency and 8 cases of 46 XX disorders. Ultrasound examination showed cryptorchidism in 30 cases, including 16 cases of unilateral, 14 cases of bilateral and 1 case presenting a huge pelvic tumor. A total of 97 gonadal tissues from 53 cases of DSD were examined, including 9 cases of unilateral and 44 cases of bilateral gonads. Microscopically, 55 gonads (56.7%) showed dysplastic testes including 17 unilateral and 19 bilateral gonads. Fourteen were streak gonads (14.4%) including 8 unilateral and 3 bilateral gonadal tissues. Nine streak gonad with epithelial cord-like structures (9.3%) were found, of which 5 were unilateral and 2 were bilateral lesions. Seven gonads were ovotestis (7.2%), unilateral in 5 cases (the other side of the gonads of ovary in 4 cases, 1 case of dysplastic testes) and bilateral in 1 case. Seven gonads showed follicular-rich ovarian tissue (7.2%). One case showed bilateral dysplastic testes with gonadoblastoma and ectopic adrenal cortex. One case of streak gonad showed epithelial cord-like structures and undifferentiated glandular tissue embedded in malignant mixed germ cell tumors (mixed gonadoblastoma, dysgerminoma, mature teratoma and yolk sac tumor). One case had testicular microlithiasis. Uterus and fallopian tube structures were found in 11 cases. Immunohistochemical stains were performed in 15 cases. D2-40, PLAP and CKIT were expressed in germ cells and Calretinin, WT1 and inhibin were positive in Setoli cells. SALL4 and OCT3/4 were positive in 3 cases. Inhibin highlighted interstitial Leydig cells in 2 cases. GPC3 was positive in yolk sac tumor component. Conclusions: Gonadal dysgenesis presents a broad spectrum of gonadal phenotypes with variable degrees of differentiation. The development of bilateral gonadal tissues has certain variability. Chromosomal karyotypes have no correlation with gonadal phenotypes. Accurate histopathologic diagnosis of gonadal dysgenesis plays an important role in the treatment and prognosis of the patient.


Assuntos
Transtornos do Desenvolvimento Sexual/patologia , 3-Oxo-5-alfa-Esteroide 4-Desidrogenase/deficiência , Adolescente , Cálculos/patologia , Criança , Pré-Escolar , Transtorno 46,XY do Desenvolvimento Sexual , Tubas Uterinas/patologia , Feminino , Humanos , Hipospadia/patologia , Lactente , Cariotipagem , Masculino , Neoplasias Embrionárias de Células Germinativas , Ovário/anormalidades , Ovário/patologia , Erros Inatos do Metabolismo de Esteroides , Teratoma/patologia , Doenças Testiculares/patologia
13.
Zhonghua Yi Xue Za Zhi ; 97(14): 1096-1101, 2017 Apr 11.
Artigo em Chinês | MEDLINE | ID: mdl-28395437

RESUMO

Objective: To prepare the quality control material for detection of platelet membrane glycoproteins by flowcytometry and evaluate the appearance traits, homogeneity and stability of it. Methods: Fresh platelets from the blood group O donors were fixed by the certain concentration of aldehyde solution and then washed by the imidazole buffer. After that, adding certain concentration of lyophilized protection solution into the preparations. The preparations were dispensed to be lyophilized and then were kept refrigerated in 2-8 ℃.According to the protocol of control of lyophilized biological products, the quality indicator for monitoring the prepared process, containing the appearance traits, the residual water, the platelet recovery and the rehydration quality were evaluated. The homogeneity and stability of these preparations were evaluated according to the CNAS-GL03 Guidance on evaluating the homogeneity and stability of samples used for proficiency testing and the ISO Guide 35 Reference material-general and statistical principles for certification. Results: The appearance traits and the rehydration quality of the quality control materials meeted the requirements, with the residual water distributed between 3.96% to 4.04% and the platelet recovery rate ranged from 68% to 72%.The homogeneity evaluation showed that there was no significant difference among the groups(P>0.05). The stability test indicated that the positive rate of platelet membrane glycoproteins CD42b, CD41 and CD62P of the quality control material was -0.14%, -0.14% and 0.74%, respectively, at 16 weeks after storage. There was no linear trend between the percentage of positive platelets with membrane glycoproteins and time(P>0.05). Conclusions: The quality control material for detection of platelet membrane glycoproteins by flow cytometry prepared by us meets the needs of the appearance traits, the residual water, the rehydration quality, the homogeneity and the longtime stability.It is hopeful to be used as internal quality control of the assay in clinic laboratory, the external quality assessment and proficiency evaluation.


Assuntos
Citometria de Fluxo , Glicoproteínas da Membrana de Plaquetas/análise , Controle de Qualidade , Doadores de Sangue , Plaquetas , Humanos , Selectina-P , Ativação Plaquetária
14.
Zhonghua Yi Xue Za Zhi ; 97(31): 2439-2442, 2017 Aug 15.
Artigo em Chinês | MEDLINE | ID: mdl-28835045

RESUMO

Objective: To explore the association between gene mutations and clinical characteristics in Chinese patients with epilepsy. Methods: A total of twenty-three patients with idiopathic epilepsy admitted to the Xuanwu Hospital of Capital Medical University from January 2014 to July 2016 were included.The age at onset of epilepsy ranged from 8 months to 31 years.All patients were screened for mutations by next-generation of sequencing (NGS), using a targeted capture panel of epilepsy and related seizures to screen forgene causative for or related to epilepsy.Some mutations were verified for inheritance by Sanger sequencing of two generations in the family.The differences in clinical characteristics among different mutation carriers were compared. Results: A total of 38 mutations were identified in 23 patients.Most of the patients presented with tonic-clonic seizures, and most were not accompanied by mental retardation.Causative genes were dominated by those encoding ion channel, enzyme and proteins with special functions.Although mutation carriers for genes encoding ion channel proteins and those with special functions were not significantly different in age at onset, types of seizure, family history or complications(P>0.05), patients presenting with tonic-clonic seizures had higher frequency of mutations in genes encoding ion channel (15/15)than those encoding proteins with special function(16/20)(P=0.066). Conclusions: NGS is a useful technology in detecting mutations in patients with various types of epilepsy and aiding in etiological diagnosis of the disease.Tonic-clonic seizures may correlate with mutations in genes encoding ion channel.


Assuntos
Epilepsia , Deficiência Intelectual , Adolescente , Adulto , Criança , Pré-Escolar , Epilepsia/genética , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Lactente , Mutação , Convulsões , Adulto Jovem
15.
Zhonghua Gan Zang Bing Za Zhi ; 25(1): 15-20, 2017 Jan 20.
Artigo em Chinês | MEDLINE | ID: mdl-28297773

RESUMO

Objective: To establish the model of liver fibrosis based on noninvasive indices, and to investigate the diagnostic value of this model. Methods: A total of 838 patients with chronic hepatitis B (CHB) who underwent liver biopsy in our hospital from March 2003 to October 2013 were selected, and the results of blood tests and B-ultrasound were collected. The correlation between these indices and liver fibrosis stage was analyzed. A logistic regression analysis was performed to establish a predictive model, and the value of this model was examined in validation group. The t-test, Mann-Whitney U non-parametric test, and chi-square test were used for data analysis. A Spearman rank correlation analysis was used for bivariate correlation analysis, and a dichotomous logistic stepwise regression analysis was used for multivariate analysis. Results: In the model group, a model (FV) consisting of age, platelet count (PLT), γ-glutamyl transferase (GGT), albumin/globulin ratio (A/G), and splenic square area (SSA) was established. The areas under the receiver operating characteristic curve (AUROCs) of the model FV were 0.892, 0.910, and 0.915, respectively, in diagnosing significant liver fibrosis (S2-4), progressive liver fibrosis (S3-4), and early-stage liver cirrhosis (S4), with sensitivities of 77.6%, 83.7%, and 86.0%, respectively, specificities of 89.7%, 84.5%, and 83.7%, respectively, and accuracy of 82.1%, 84.2%, and 84.2%, respectively. There were no significant differences in AUROCs between the validation group and the model group (Z = 0.360, 0.885, and 0.046, all P > 0.05). In all patients, FV had significantly higher AUROCs in the diagnosis of liver fibrosis than FIB4 index and S index (Z = 4.569/3.423, 5.640/4.709, and 4.652/4.439, all P < 0.05). With < 0.374 and ≥ 0.577 as the cut-off values for the exclusion and diagnosis of significant liver fibrosis, 61.1% (512/838) of all patients could avoid liver biopsy, and the accuracy was 92.6% (474/512). Conclusion: The noninvasive model based on age, PLT, GGT, A/G, and SSA can accurately predict liver fibrosis degree in patients with CHB with good reproducibility; therefore, it can be used for dynamic monitoring of liver fibrosis degree in clinical practice.


Assuntos
Biomarcadores , Hepatite B Crônica/complicações , Cirrose Hepática/diagnóstico , Biópsia , Humanos , Cirrose Hepática/complicações , Testes de Função Hepática , Análise Multivariada , Contagem de Plaquetas , Curva ROC , Reprodutibilidade dos Testes , Estudos Retrospectivos , Sensibilidade e Especificidade , Ultrassonografia , gama-Glutamiltransferase/metabolismo
16.
Zhonghua Wai Ke Za Zhi ; 55(4): 266-269, 2017 Apr 01.
Artigo em Chinês | MEDLINE | ID: mdl-28355763

RESUMO

Objective: To summarize the experience of reoperations on patients who had late complications related to previous aortic surgery for Stanford type A dissection. Methods: From August 2008 to October 2016, 14 patients (10 male and 4 female patients) who underwent previous cardiac surgery for Stanford type A aortic dissection accepted reoperations on the late complications at Department of Thoracic and Cardiovascular Surgery, Nanjing Hospital Affiliated to Nanjing Medical University. The range of age was from 41 to 76 years, the mean age was (57±12) years. In these patients, first time operations were ascending aorta replacement procedure in 3 patients, ascending aorta combined with partial aortic arch replacement in 4 patients, aortic root replacement (Bentall) associated with Marfan syndrome in 3 patients, aortic valve combined with ascending aorta replacement (Wheat) in 1 patient, ascending aorta combined with Sun's procedure in 1 patient, Wheat combined with Sun's procedure in 1 patient, Bentall combined with Sun's procedure in 1 patient. The interval between two operations averaged 0.3 to 10.0 years with a mean of (4.8±3.1) years. The reasons for reoperations included part anastomotic split, aortic valve insufficiency, false aneurysm formation, enlargement of remant aortal and false cavity. The selection of reoperation included anastomotic repair, aortic valve replacement, total arch replacement and Sun's procedure. Results: Of the 14 patients, the cardiopulmonary bypass times were 107 to 409 minutes with a mean of (204±51) minutes, cross clamp times were 60 to 212 minutes with a mean of (108±35) minutes, selective cerebral perfusion times were 16 to 38 minutes with a mean of (21±11) minutes. All patients survived from the operation, one patient died from severe pulmonary infection 50 days after operation. Three patients had postoperative complications, including acute renal failure of 2 patients and pulmonary infection of 1 patient, and these patients were recovered after treatment. Thirteen patients were finally recovered from hospital. The patients were followed up for 16 to 45 months, and no aortic rupture, paraplegia and death were observed in the follow-up. Conclusions: Patients for residual aortic dissection after initial operations on Stanford type A aortic dissection should be attached great importance and always need emergency surgery, but the technique is demanding and risk is great for surgeons and patients, which need enough specification and accurate on aortic operation. More importantly, the Sun's procedure also should be performed on the treatment of residual aortic dissection or distal arch expansion, and obtains the short- and long-term results in the future.


Assuntos
Aneurisma da Aorta Torácica/cirurgia , Dissecção Aórtica/cirurgia , Reoperação , Adulto , Idoso , Falso Aneurisma , Aorta , Aneurisma Aórtico , Ruptura Aórtica , Valva Aórtica , Insuficiência da Valva Aórtica , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias
17.
Zhonghua Yi Xue Za Zhi ; 96(33): 2620-2624, 2016 Sep 06.
Artigo em Chinês | MEDLINE | ID: mdl-27666880

RESUMO

Objective: To provide evidence for early clinical diagnosis of multiple system atrophy(MSA)by studying the characteristics of sympathetic skin responses(SSR) in the patients with MSA. Methods: A total of 47 MSA patients and 32 healthy individuals were enrolled as case group and normal control(NC) group, from in and out patients of Neurology Department of Navy General Hospital from July 2013 to August 2015. SSR was tested by Nicolet electromyography, the latency and abnormal and disappeared rate of SSR were compared. Results: The SSR latency of upper limbs and lower limbs in MSA group had statistical significance compared respectively with the NCgroup (upper limbs: SSR latency was(1 485±187)ms in MSA group, and(1 375±108)ms in NC group, P<0.05; lower limbs: SSR latency was(2 200±386)ms in MSA group, and(1 994±240)ms in NC group, P<0.05). Sex and age had no significant effect on the latency and the abnormal and disappeared rate of SSR in two groups (P>0.05). The upper and lower limb SSR latency in MSA patients with disease duration more than 2 years(SSR latency was (1 592±160)ms in upper limb and (2 268±254)ms in lower limb) were longer than those within 2 years(SSR latency was (1 453±184)ms in upper limb and (2 190±442)ms in lower limb), but only the upper limbs had significantly statistical differences (P<0.05). Both SSR abnormal rate and SSR disappeared rate in MSA patients whose disease duration were more than 2 years(SSR abnormal rate: 85.00%, SSR disappeared rate: 75.00%) were higher than those with shorter disease duration(SSR abnormal rate: 55.56%, SSR disappeared rate: 22.22%), and both were statistically significant (SSR abnormal rate: P<0.05, SSR disappeared rate: P<0.001). The upper and lower limb SSR latency of MSA-C subgroup had no statistical difference compared with MSA-P subgroup(P>0.05). The SSR abnormal rate in MSA-C subgroup(78.13%) was higher than that of MSA-P subgroup(46.76%), and were statistically significant (P<0.05). The SSR disappeared rate in MSA-C subgroup has no statistical difference compared with the MSA-P subgroup(P>0.05). Conclusions: SSR is helpful to diagnose MSA. The latency and the abnormal and disappeared rate of SSR are significantly increased with the extension of MSA duration. The SSR abnormal rate in MSA-C patients is higher than that in MSA-P patients, and symmetrically abnormal SSR is more supporting the diagnosis of MSA.


Assuntos
Atrofia de Múltiplos Sistemas , Sistema Nervoso Simpático , Eletromiografia , Humanos , Pele
18.
Zhonghua Yi Xue Za Zhi ; 96(47): 3797-3799, 2016 Dec 20.
Artigo em Chinês | MEDLINE | ID: mdl-28057093

RESUMO

Objective: To explore the clinical and scalp video electroencephalographic(EEG) characteristics of insula lobe epilepsy identified by intracranial electrode, and to provide some references for early diagnosis and clinical evaluation in patients with insula lobe epilepsy. Methods: A total of 12 patients diagnosed with insula lobe epilepsy identified by intracranial electrode were included from Xuanwu Hospital of Capital Medical University from January 2013 to December 2015.Their clinical and EEG data were analyzed. Results: 91.7% of patients had sensory aura before seizure, and had clear consciousness at onset initial time.Visceral motor and visceral sensation were the most common symptoms, and the epilepsy was always ended with somatic movement.There was no prominent characteristic changes in scalp EEG. Conclusions: Clinical features are important for insula lobe epilepsy diagnosis.When patients present symtoms aforementioned, insula lobe epilepsy should be considered.


Assuntos
Eletroencefalografia , Epilepsia , Couro Cabeludo , Córtex Cerebral , Eletrodos , Humanos , Convulsões
19.
Zhonghua Yi Xue Za Zhi ; 96(45): 3656-3661, 2016 Dec 06.
Artigo em Chinês | MEDLINE | ID: mdl-27978902

RESUMO

Objective: To analyze features and the related factors of myoclonus of 47 patients with probable or possible Creutzfeldt-Jakob disease (CJD). Methods: All patients diagnosed with"suspected CJD" and hospitalized in Xuanwu Hospital from January 2013 to November 2015 were included, and their clinical information and myoclonus features were analyzed. Age, clinical, course and manifestation, EEG, MRI, CSF14-3-3 features between myoclonus positive group and negative group were compared, and the correlation between myoclonus features and these factors was analyzed using Spearman correlation analyses. Results: (1) Occurrence rate of extrapyramidal symptoms (P=0.028), visual impairment (P=0.025) and dyssomnia (P=0.004) were higher in myoclonus positive group, the differences were significant. Spearman correlation analysis showed that myoclonus was related to extrapyramidal symptoms (P=0.024), visual impairment (P=0.030) and dyssomnia (P=0.001). (2) EEG features showed no significant difference between myoclonus positive and negative group. The 17 myoclonus positive patients were divided into three subgroups, typical EEG change group 52.94%(9/17), atypical EEG change group 23.53%(4/17) and no EEG change group 23.53%(4/17). Difference of myoclonus and other clinical manifestations were not significant among the three subgroups(P>0.05); correlation analysis also found no statistically significant correlation between myoclonus and EEG (P=0.201). Conclusions: Myoclonus often occurs after the damage of locomotor system (including pyramidal tract, extracorticospinal tract and cerebellum) among CJD patients, and it is related to extrapyramidal symptoms , visual impairment and dyssomnia . There is undefined correlation between myoclonus and periodic sharp wave complexes (PSWC) in EEG.


Assuntos
Síndrome de Creutzfeldt-Jakob , Mioclonia , Eletroencefalografia , Humanos , Imageamento por Ressonância Magnética , Quinoxalinas
20.
Zhonghua Yi Xue Za Zhi ; 96(39): 3142-3145, 2016 Oct 25.
Artigo em Chinês | MEDLINE | ID: mdl-27852412

RESUMO

Objective: To assess the imaging features of 43 patients diagnosed as clinically possible or probable Creutzfeldt-Jakob disease (CJD) for providing referential information and experience on applications of MRI in the clinical diagnosis and treatment of CJD. Method: All patients who were diagnosed with "suspected CJD" and hospitalized in Xuanwu Hospital from January 2013 to November 2015 were collected, and their clinical information and MRI imaging features were analyzed retrospectively. Results: Totally 62 patients with "suspected CJD" were rectruited in this study, and 43 of them were diagnosied as probable and possible CJD when they were discharged.The typical MRI feature of CJD patients was "cortical ribbon" sign in MR DWI sequences and/or high signal in cortex or bilateral basal ganglia.In all patients, the simple coritcal involvement was the highest(76.47%, 26/34), followed by the cortical cortex and basal ganglia(23.53%, 8/34). MRI positive group had more prominent extrapyramidal symptoms than MRI negative group (26/31 vs 9/12, P=0.015), but no statistical difference in clinic feature was found between the group with simple cortex affected and the group with both cortex and bilateral basal ganglia affected (P>0.05). Conclusions: MRI images of patients with CJD have special characteristics and have corresponding changes when the patients are in different stages of disease. In combination with the clinical evaluation of disease progression, brain microscopic pathological changes of CJD patients can be assessed by regularly brain MRI examination.


Assuntos
Síndrome de Creutzfeldt-Jakob , Imageamento por Ressonância Magnética , Gânglios da Base , Encéfalo , Progressão da Doença , Humanos , Estudos Retrospectivos
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