RESUMO
Objective: To investigate the impact of orthotopic liver transplantation on serum lipid and growing development in patients with homozygous (HoFH) or compound heterozygotes (cHeFH) familial hypercholesterolemia. Methods: Patients who were treated in Peking Union Medical College Hospital from August 2019 to August 2021, entered the rare disease database and underwent liver transplantation, were included in this single center retrospective cohort study. The height for age Z score (HAZ) and length for age Z score (WAZ) at birth, at the time of transplantation and one year after transplantation were calculated respectively by collecting demographic characteristics, clinical manifestations, echocardiography, lipid-lowering treatment, blood lipid level data and donor characteristics data of liver transplantation. The serum cholesterol level and growing development changes before and after liver transplantation were evaluated. Results: A total of five patients with HoFH or cHeFH, including two females, were included in this study. The median age was 10 years (6-22 years). The median follow up duration was 28 months (24-33 months). All HoFH or cHeFH patients in this study received the maximum daily dosage of the lipid-lowering drug combined with low salt and low-fat diet control treatment for at least 3 months before orthotopic liver transplantation. The average level of total cholesterol (TC) decreased by 27% compared with that before treatment, the level of low-density lipoprotein cholesterol (LDL-C) decreased by 21% after 3 months treatment. There was no intervention of lipid-lowering therapy after operation. One month after liver transplantation, the average levels of TC and LDL-C further decreased rapidly by 68% and 76% respectively. One year after liver transplantation, the level of LDL-C decreased from (17.1±1.6)mmol/L without any intervention before transplantation to (3.0±0.7)mmol/L, and remained stable thereafter. In addition, compared with no intervention before liver transplantation, the serum triglyceride (TG) level decreased after the maximum daily dosage of the lipid-lowering drug and low salt and low-fat diet control for 3 months ((1.88±0.27) mmol/L vs. (1.12±0.55)mmol/L, P=0.031), and the HDL-C level also decreased significantly ((1.95±0.49)mmol/L vs. (0.95±0.30)mmol/L, P=0.006) at the same time period. TG and HDL-C remained stable after liver transplantation during the 24-month follow-up period (P>0.05). One and two years after liver transplantation, there was no significant difference in height and weight, malnutrition and growth retardation between the patients in this cohort and Chinese children of the same age. Conclusion: Early liver transplantation is a feasible and effective treatment option for HoFH or cHeFH patients with extremely high serum low-density lipoprotein cholesterol levels.
Assuntos
Hipercolesterolemia Familiar Homozigota , Hiperlipoproteinemia Tipo II , Transplante de Fígado , Criança , Recém-Nascido , Feminino , Humanos , LDL-Colesterol/uso terapêutico , Estudos Retrospectivos , Hiperlipoproteinemia Tipo II/genética , Hiperlipoproteinemia Tipo II/cirurgia , Lipídeos , Hipolipemiantes/uso terapêuticoRESUMO
Objective: To investigate the genetic and genomic profiling of juvenile myelomonocytic leukemia (JMML) and factors affecting its survival rate. Methods: Clinical characteristics, cytogenetics, molecular biology results and survival status of children with 27 JMML cases admitted to the Hematology Department of Children's Hospital, Capital Institute of Pediatrics from December 2012 to December 2021 were analyzed retrospectively, and the outcomes of the children were followed up. Kaplan-Meier method was used for survival analysis. Univariate analysis was used for analyzing factors affecting the overall survival (OS) rates of patients who received hematopoietic stem cell transplantation (HSCT). Log-Rank test was used for comparison of survival curves. Results: Among 27 JMML cases, there were 11 males and 16 females. The age of disease onset was 28 (11,52) months. There are 20 cases of normal karyotype, 4 cases of monosomy 7, 1 case of trisomy 8,1 case of 11q23 rearrangement and 1 case of complex karyotype. A total of 39 somatic mutations were detected.Those involved in RAS signal pathway were the highest (64%(25/39)), among which PTPN11 mutation was the most frequent (44% (11/25)). A total of 17 cases (63%) received HSCT, 8 cases (30%) did not receive HSCT, and 2 cases (7%) lost follow-up. For children receiving transplantation, the follow-up time after transplantation was 47 (11,57) months. The 1-year OS rate of high-risk transplantation group (17 cases) and high-risk non transplantation group (6 cases) was (88±8)% and (50±20)% respectively, with a statistically significant difference (χ2=5.01, P=0.025). The 5-year OS rate of the high-risk transplantation group was (75±11)%. The survival time of those who relapsed or progressed to acute myeloid leukemia after transplantation was significantly shorter than that of those who did not relapse (χ2=6.80, P=0.009). The OS rate of patients with or without PTPN11 mutation was (81±12) % and (67±19)% respectively (χ2=0.85, P=0.356). Conclusions: The main pathogenesis involved in JMML is gene mutation related to RAS signaling pathway, and the most common driver gene of mutation is PTPN11. Allogeneic HSCT can significantly improve the survival rate of high-risk JMML patients. The recurrence or progression after transplantation was related to poor prognosis.
Assuntos
Transplante de Células-Tronco Hematopoéticas , Leucemia Mielomonocítica Juvenil , Masculino , Feminino , Criança , Humanos , Pré-Escolar , Leucemia Mielomonocítica Juvenil/genética , Leucemia Mielomonocítica Juvenil/terapia , Estudos Retrospectivos , Análise de Sobrevida , MutaçãoRESUMO
Objective: To investigate the risk factors for human cytomegalovirus infection after allogeneic hematopoietic stem cell transplantation in children and the impact of human cytomegalovirus infection on post-transplant immune reconstitution. Methods: A Retrospective Co-Hort study design was used to include 81 children treated with allo-HSCT from January 2020 to March 2022 at the Department of Hematology, Capital Institute of Pediatrics, Beijing, China, and followed up for 1 year. Real-time quantitative PCR was used to detect positive detection of HCMV in children after allo-HSCT, multifactorial logistic regression modeling was used to analyze the risk factors leading to HCMV infection, and generalized estimating equation modeling was used to analyze the effect of HCMV infection on the T-cells of the children who received allo-HSCT. Results: The age M(Q1, Q3) of 81 children was 5.1 years (10 months, 13.8 years), and 50 (61.7%) were male. By the endpoint of follow-up, a total of 50 HCMV-positive cases were detected, with an HCMV detection rate of 61.7%; The results of multifactorial logistic regression modeling showed that children with grade 2-4 aGVHD had a higher risk of HCMV infection compared with grade 0-1 after transplantation [OR (95%CI) value: 2.735 (1.027-7.286)]. The results of generalized estimating equation modeling analysis showed that the number of CD3+T cells in HCMV-positive children after transplantation was higher than that in the HCMV-negative group [RR (95%CI) value: 1.34 (1.008-1.795)]; the ratio of CD4+T/CD8+T cells was smaller than that in the HCMV-negative group [RR (95%CI) value: 0.377 (0.202-0.704)]; the number of CD8+T cells was higher than that in the HCMV-negative group [RR (95%CI) value: 1.435 (1.025-2.061)]; the number of effector memory CD8+T cells was higher than that in the HCMV-negative group [RR (95%CI) value: 1.877 (1.089-3.236)]. Conclusion: Acute graft-versus-host disease may be a risk factor for HCMV infection in children after allo-HSCT; post-transplant HCMV infection promotes proliferation of memory CD8+T-cell populations and affects immune cell reconstitution.
Assuntos
Infecções por Citomegalovirus , Transplante de Células-Tronco Hematopoéticas , Reconstituição Imune , Masculino , Humanos , Criança , Feminino , Estudos Retrospectivos , Transplante de Células-Tronco Hematopoéticas/efeitos adversos , Linfócitos T CD8-PositivosRESUMO
Objective: To explore the clinical effect of the fractional carbon dioxide laser in the treatment of contracture scars. Methods: A retrospective before-after self-control study was conducted. From December 2016 to April 2021, 16 patients (7 males and 9 females, aged 3-49 years) with contracture scars causing impaired function of the adjacent joint were admitted to Shanghai Ninth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine. Eighteen joint scars of 16 patients were treated with fractional carbon dioxide laser every 2-3 months until the joint retained its normal range of motion or the effect plateaued. The treatment times of each patient were recorded. Before the first treatment and 6 months after the last treatment, the ranges of motion of the affected joint were measured in each patient, and the difference was calculated, meanwhile, the Vancouver Scar Scale (VSS) was used to evaluate the scar of each patient. In the treatment of 1 joint scar in each of 6 patients (totally 6 times of treatments), the ranges of motion of the affected joint before the current treatment, immediately after the treatment, and at the first follow-up after the treatment were documented, and the differences between the ranges before and immediately after the treatment as well as between the ranges before and at the first follow-up after the treatment were calculated. Adverse effects after the treatment in the treatment area were documented. At the last follow-up, a self-made questionnaire was used to collect the implementation status of the physical therapy and other scar management modalities during the treatment interval and follow-up period. Data were statistically analyzed with Wilcoxon rank sum test. Results: Eighteen joint scars in 16 patients received 2 (1, 3) times of fractional carbon dioxide laser treatment. The range of motion of the affected joint of 16 patients 6 months after the last treatment was 56.5 (39.0, 128.8)°, notably higher than 38.4 (22.9, 116.3)° before the first treatment (Z=-3.724, P<0.01), showing a remarkable improvement by 17.4 (8.0, 24.1)°. The vascular distribution, softness, and thickness scores, and total score in VSS scoring of scars of 16 patients 6 months after the last treatment were significantly lower than those before the first treatment (Z=-2.989, -3.762, -2.814, -3.739, P<0.01), with the most obvious improvement in softness. In 6 times of treatments, the range of motion of the affected joint immediately after treatment and at the first follow-up of (2.5±0.6) months after treatment were 156.2 (148.0, 164.2)° and 160.2 (156.7, 166.4)°, both notably higher than 151.4 (145.7, 155.3)° before treatment (Z=-2.201, -2.201, P<0.05), showing a remarkable improvement by 9.1 (4.4, 13.0)° and 13.1 (8.0, 15.7)°, respectively. No adverse effects such as blisters, infection, or hypertrophic scar formation were observed in the treatment area of 16 patients after treatment. Most patients adopted physical therapy, compression, silicone gel or sheets, and braces during the treatment interval and follow-up period. Conclusions: The fractional carbon dioxide laser can soften the scar and increase the range of motion of the affected joint, which is suitable for the clinical treatment of mild contracture scars.
Assuntos
Queimaduras , Cicatriz Hipertrófica , Contratura , Lasers de Gás , Dióxido de Carbono , China , Cicatriz/cirurgia , Cicatriz Hipertrófica/patologia , Contratura/etiologia , Contratura/cirurgia , Feminino , Humanos , Masculino , Estudos Retrospectivos , Resultado do TratamentoRESUMO
It has been proven that maternally expressed 3 (MEG3), a long non-coding RNA (LncRNA), is down-regulated and inversely correlated with prognosis in various types of cancer, including bladder cancer (BC). Nevertheless, the role of MEG3 in BC has not been fully identified. Herein, we found that MEG3 expression was reduced in 21 BC tumor tissue samples compared to corresponding adjacent tissues. We then established T24 and 5637 cells with a stably integrated expression of MEG3 by G418 resistance screening, and data revealed that the BC cells over-expressing MEG3 displayed weaker migration and invasion ability than control cells. The expression and activity of matrix metalloproteinase (MMP)2 and MMP9 were down-regulated when MEG3 was over-expressed. Moreover, MEG3 over-expression sensitized BC cells to the chemotherapy drug cisplatin (DDP). DDP treatment significantly induced cell apoptosis, down-regulated bcl2 expression, and up-regulated cleaved-caspase-3 and bax expression in BC cells with MEG3 over-expression. MEG3 and p53 can also stimulate mutual expression in BC cells, thus indicating a potential positive feedback loop of MEG3 and p53. Our combined results suggest that over-expression of MEG3 inhibits migration and invasion and enhances DDP chemo-sensitivity in bladder cancer cells.
Assuntos
Movimento Celular , Cisplatino/farmacologia , RNA Longo não Codificante/genética , Neoplasias da Bexiga Urinária/genética , Apoptose , Caspase 3/genética , Linhagem Celular Tumoral , Proliferação de Células , Regulação Neoplásica da Expressão Gênica , Humanos , Proteínas Proto-Oncogênicas c-bcl-2/genética , Proteína Supressora de Tumor p53/genética , Regulação para Cima , Neoplasias da Bexiga Urinária/tratamento farmacológico , Proteína X Associada a bcl-2/genéticaRESUMO
STUDY DESIGN: The rat's acellular spinal cord scaffold (ASCS) and spinal cord neurons were prepared in vitro to explore their biocompatibility. OBJECTIVES: The preparation of ASCS and co-culture with neuron may lay a foundation for clinical treatment of spinal cord injury (SCI). SETTING: Tianjin Medical University General Hospital, ChinaMethods:ASCS was prepared by chemical extraction method. Hematoxylin and eosin (H&E), myelin staining and scanning electron microscope were used to observe the surface structure of ASCS. Spinal cord neurons of rat were separated in vitro, and then co-cultured with prepared ASCS in virto. RESULTS: The prepared ASCS showed mesh structure with small holes of different sizes. H&E staining showed that cell components were all removed. The ASCS possessed fine three-dimensional network porous structure. DNA components were not found in the ASCS by DNA agarose gel electrophoresis. The cultured cells express neuron-specific enolase (NSE) antigen with long axons. H&E staining showed that the neurons adhered to the pore structures of ASCS, and the cell growth was fine. The survival rate of co-cultured cells was (97.53±1.52%) by MTT detection. Immunohistochemical staining showed that neurons on the scaffold expressed NSE and NeuN antigen. Cells were arranged closely, and the channel structures of ASCS were fully filled with neurons. The cells accumulated in the channel and grew well in good state. CONCLUSION: The structure of ASCS remained intact, and the neurons were closely arranged in the scaffolds. These results may lay a solid foundation for clinical treatment of SCI when considering glial scar replacement by biomaterials.
Assuntos
Neurônios/citologia , Neurônios/fisiologia , Medula Espinal/citologia , Medula Espinal/fisiologia , Alicerces Teciduais , Animais , Antígenos Nucleares/metabolismo , Adesão Celular , Contagem de Células , Sobrevivência Celular , Técnicas de Cocultura , Imuno-Histoquímica , Teste de Materiais , Microscopia Eletrônica de Varredura , Bainha de Mielina/metabolismo , Proteínas do Tecido Nervoso/metabolismo , Fosfopiruvato Hidratase/metabolismo , Ratos Wistar , Traumatismos da Medula EspinalRESUMO
Objective: To compare the benefits and harms of cervical disc arthroplasty (CDA) with anterior cervical discectomy and fusion(ACDF) for symptomatic cervical disc disease at mid- to long-term follow-up. Methods: Electronic searches were made in PubMed, EMBASE, and the Cochrane Library for randomized controlled trials with at least 48 moths follow-up.Outcomes were reported as relative risk or standardized mean difference.Meta-analysis was carried out using Revman version 5.3 and Stata version 12.0. Results: Seven trials were included, involving 2 302 participants.The results of this meta-analysis indicated that CDA brought about fewer secondary surgical procedures, lower neck disability index (NDI) scores, lower neck and arm pain scores, greater SF-36 Physical Component Summary (PCS) and Mental Component Summary(MCS) scores, greater range of motion (ROM) at the operative level and less superior adjacent-segment degeneration(P<0.05) than ACDF.CDA was not statistically different from ACDF in inferior adjacent-segment degeneration, neurological success, and adverse events (P>0.05). Conclusions: CDA can significantly reduce the rates of secondary surgical procedures compared with ACDF.Meanwhile, CDA is superior or equivalent to ACDF in other aspects.As some studies without double-blind are included and some potential biases exites, more randomized controlled trials with high quality are required to get more reliable conclusions.
Assuntos
Vértebras Cervicais , Degeneração do Disco Intervertebral/cirurgia , Deslocamento do Disco Intervertebral/cirurgia , Fusão Vertebral , Artroplastia , Discotomia , Método Duplo-Cego , Humanos , Disco Intervertebral , Pescoço , Ensaios Clínicos Controlados Aleatórios como Assunto , Amplitude de Movimento Articular , Resultado do TratamentoRESUMO
STUDY DESIGN: Hospital-based retrospective study. OBJECTIVES: The objective of this study was to describe the epidemiological profile of traumatic spinal cord injury (TSCI) in Tianjin Medical University General Hospital, China, from 2009 to 2014. SETTING: Tianjin Medical University General Hospital. METHODS: Hospital medical records of patients with TSCI admitted to hospital from 1 January 2009 to 31 December 2014 were reviewed. Collected variables included gender, age, marital status, ethnic group, occupation, etiology, neurological level of injury, American Spinal Injury Association (ASIA)-ISCoS impairment scale at admission, the severity, death and its cause, concomitant injuries and treatment choice. RESULTS: During the study period, 354 cases were identified. Male-to-female ratio was 2.34:1, with a mean age of 50.1±15.5 years. Falls (55.1%), comprising low falls and high falls (33.6% and 21.5%, respectively), were the leading cause, followed by motor vehicle collisions (MVCs) (35.9%). The most common injury site was the cervical spinal cord, especially C4-C6, accounting for 59.3%. Surgery was the major treatment choice (57.6%). CONCLUSION: The number of TSCI patients increased annually in our center. The mean age at the time of injury was older, and the proportion of males was higher. The leading two causes were falls and MVCs. The SCIs caused by MVCs were increasing. Peasants, workers and unemployed individuals were those at higher risk. Surgery was the major treatment choice. These data may be useful to implement those preventive strategies focused on the characteristics of different groups and pay more attention to high-risk populations.
Assuntos
Traumatismos da Medula Espinal/epidemiologia , Adolescente , Adulto , Distribuição por Idade , Idoso , Criança , Pré-Escolar , China , Feminino , Hospitais Universitários , Humanos , Lactente , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Doenças do Sistema Nervoso/etiologia , Ocupações , Estudos Retrospectivos , Distribuição por Sexo , Traumatismos da Medula Espinal/complicações , Traumatismos da Medula Espinal/etiologia , Traumatismos da Medula Espinal/terapia , Saúde da População Urbana , Adulto JovemRESUMO
Klinefelter syndrome (KS) is the most common genetic cause of male infertility. Widespread development in assisted reproductive technology has provided non-mosaic KS patients with the opportunity of having biological children. Testosterone replacement therapy and micro-dissection testicular sperm extraction are effective sperm retrieval techniques for KS patients. Despite the success of sperm retrieval and intracytoplasmic sperm injection (ICSI), some areas of early aggressive hormonal spermatogenesis and appropriate management of KS remain controversial. Androgenotherapy, a common treatment for KS, carries a risk of decreasing focal spermatogenesis by lowering the gonadotropin content. Inadequately treated hypogonadism increases psychosocial morbidity in KS patients. Preventive care must be provided from the time of diagnosis, preferentially through a multidisciplinary approach. This indicates the need for improved genetic counseling of KS patients. The aim of this study was to report the prevalence of non-mosaic KS in a Chinese infertile male population. The rate of early diagnosis was lower in KS patients; most of these were diagnosed after rising concerns of reproductive capacity. The mean age of patients with sperm or germ cells was significantly lower, while the semen volume of these patients was significantly higher. However, the semen volume was negatively correlated with the age and ratio of luteinizing hormone/testosterone content in KS patients. Therefore, genetic counseling of KS patients should focus on early diagnosis and timely treatment, in addition to improving the quality of life of all KS patients. The use of testosterone replacement therapy and/ or micro-dissection testicular sperm extraction should be preferentially considered for fertility preservation.
Assuntos
Aconselhamento Genético/métodos , Síndrome de Klinefelter/diagnóstico , Síndrome de Klinefelter/terapia , Adulto , China , Terapia de Reposição Hormonal , Humanos , Infertilidade Masculina/genética , Infertilidade Masculina/fisiopatologia , Infertilidade Masculina/terapia , Cariótipo , Síndrome de Klinefelter/genética , Síndrome de Klinefelter/fisiopatologia , Hormônio Luteinizante/sangue , Masculino , Qualidade de Vida , Técnicas de Reprodução Assistida , Recuperação Espermática , Espermatogênese/genética , Testosterona/administração & dosagem , Testosterona/sangueRESUMO
This study aimed to assess the relationship between the recurrence and prognosis of patients with acute middle cerebral artery infarction, atherosclerotic brain infarction, and the existence of microemboli. We continuously enrolled patients with acute atherosclerotic thrombotic cerebral infarction artery stenosis. We performed transcranial Doppler color ultrasound micro emboli monitoring, color Doppler ultrasound carotid artery tests, intracranial and carotid artery magnetic resonance angiography, impairment evaluation of nerve function, and registration of stroke recurrence and stroke mortality. Of the 49 patients enrolled in the study, 123 main arteries presented atherosclerotic stenosis or formed plaques, and 33 patients had symptomatic stenosis. Patients with symptomatic stenosis have a higher incidence of microemboli than patients with asymptomatic stenosis (P = 0.009). The microembolus-positive rate increased in patients with unstable plaques (P = 0.001). Patients who were microembolus-negative were more likely to show a neural function deficient NIHSS (National Institutes of Stroke Scale) score improvement than patients who were microembolus-positive at one week (P = 0.026). However, we found no significant difference between mRS (modified rankin scale) score (P = 0.319), relapse, and death (P = 0.179). The rate of microembolus-positivity increased in patients with atherosclerotic thrombotic cerebral infarction and unstable plaques. Patients who were microembolus-negative were more likely to show an improvement of neural function deficiency than patients with microembolus-positivity at one week (P = 0.026).
Assuntos
Doenças Arteriais Cerebrais/diagnóstico por imagem , Embolia/diagnóstico por imagem , Infarto da Artéria Cerebral Média/diagnóstico por imagem , Arteriosclerose Intracraniana/diagnóstico por imagem , Ultrassonografia Doppler Transcraniana/métodos , Idoso , Análise de Variância , Artérias Carótidas/diagnóstico por imagem , Doenças Arteriais Cerebrais/diagnóstico , Constrição Patológica/diagnóstico , Constrição Patológica/diagnóstico por imagem , Embolia/diagnóstico , Feminino , Humanos , Infarto da Artéria Cerebral Média/diagnóstico , Arteriosclerose Intracraniana/diagnóstico , Angiografia por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Exame Neurológico/métodos , Prognóstico , Recidiva , Fatores de Risco , Acidente Vascular Cerebral/diagnósticoRESUMO
STUDY DESIGN: A retrospective epidemiological study. OBJECTIVE: To describe the recent epidemiological characteristics of traumatic cervical spinal cord injury (TCSCI) in adults in Tianjin. SETTING: Tianjin Medical University General Hospital. METHODS: This study included all TCSCI patients aged ≥ 15 years who were admitted to a general hospital from December 2008 to November 2011. Epidemiological characteristics including gender, age, marital status, occupation, etiology, level of injury, severity and America Spinal Injury Association (ASIA) impairment scale were recorded. RESULTS: A total of 143 patients with TCSCI were included in the study. Mean age was 54.6 ± 14.6 years (men 53.5 ± 14.9 years, women 54.2 ± 12.1 years), with a range of 18-87 years, and the male/female ratio was 5:1. The leading cause was falls (49.7%), followed by motor vehicle accidents (36.4%). The most common injury site was C5, accounting for 42%. In all, 74 (51.7%) patients had complications; the most common complication was hyponatremia (30.1%), followed by urinary infection (23.1%), respiratory infection (18.2%), bedsore (9.8%) and deep venous thrombosis (4.9%). As for the severity, ASIA grade D was encountered most frequently. Six patients died, five of whom died from respiratory failure. CONCLUSION: The epidemiology of TCSCI has its own characteristics. Falls were the leading causes, and TCSCI occurred most frequently in the middle-aged and elders. Therefore, establishing public policies aimed at preventing injuries should focus on falls and more attention should be paid to the aged regarding their vulnerability to low fall. Additionally, complications should be prevented in TCSCI patients.
Assuntos
Traumatismos da Medula Espinal/epidemiologia , Traumatismos da Medula Espinal/terapia , Acidentes por Quedas , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Vértebras Cervicais , China/epidemiologia , Feminino , Humanos , Escala de Gravidade do Ferimento , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Traumatismos da Medula Espinal/diagnóstico , Adulto JovemRESUMO
STUDY DESIGN: A retrospective epidemiological study. OBJECTIVES: To provide recent epidemiological characteristics of traumatic spinal cord injuries (TSCIs) in adults living in Tianjin. SETTING: Tianjin, China. METHODS: This study included all TSCI patients aged 15 years or older who were admitted to tertiary hospitals in Tianjin from 2004 to 2008. Epidemiological characteristics, such as age, sex, date of admission, causes of injury, level of injury, America Spinal Injury Association impairment scale and date of discharge were included. RESULTS: A total of 869 patients were included, with an estimated annual incidence was 23.7 per million populations. The male/female ratio was 5.63:1. Mean age of TSCI was 46.0±14.2 years (men 45.8±14.2 years, women 47.5±14.5 years), with a range of 16-90 years. Falls were regarded as the leading causes of injury, followed by motor vehicle collisions. The lesion level was cervical in 71.5%, thoracic in 13.3% and lumbar/sacral in 15.1%. The frequency of tetraplegia (71.5%) was higher than paraplegia (28.5%), and roughly four-fifth of tetraplegia cases were incomplete injury. CONCLUSION: To our knowledge, national or local epidemiological study of spinal cord injury (SCI) has not been carried out previously in China. The number of SCI patients in this country is large and would increase gradually. Similar to other developing countries, falls were the main causes of TSCI. Low falls were more common in those over 60 years old. As the ageing society coming, the number of low falls-induced TSCI would increase gradually, which poses a challenge to the society health system.
Assuntos
Traumatismos da Medula Espinal/epidemiologia , Traumatismos da Medula Espinal/patologia , Adolescente , Adulto , Distribuição por Idade , Idoso , Idoso de 80 Anos ou mais , China/epidemiologia , Feminino , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Distribuição por Sexo , Traumatismos da Medula Espinal/etiologia , Cateterismo Urinário/métodos , Adulto JovemRESUMO
Cell death-inducing DFF45-like effectors a and c (CIDEa and CIDEc) are two members of the novel CIDE family of apoptosis-inducing factors. Except as pro-apoptotic proteins, it has been reported that CIDEa and CIDEc could be involved in lipid or fat metabolism. Here we first reported the cDNA cloning, chromosome mapping and expression analysis of CIDEa and CIDEc in pigs. Sequence analysis showed that porcine CIDEa contains an open reading frame of 660 bp, which encodes 219 amino acids, and CIDEc contains a coding region of 717 bp that encodes 238 amino acids. The deduced amino acid sequence of porcine CIDEa and CIDEc shows high similarities to their corresponding human and mouse homologues. Radiation hybrid mapping demonstrated that porcine CIDEa and CIDEc are located at chromosome 6q21-26 and 13q31 respectively, syntenic with the loci of their corresponding homologues on human chromosomes. Tissue distribution analysis indicated that porcine CIDEa and CIDEc mRNAs are co-expressed in various tissues. Both of them were highly expressed in white adipose tissue, and CIDEc mRNA was also expressed at relatively high level in porcine small intestine, lymph and brain. Furthermore, CIDEa and CIDEc mRNA level in white adipose tissues and liver were significantly higher in obese pigs than in their lean counterparts. Our studies provide basic molecular information useful for the further investigation on the function of the two genes, which will be helpful in better understanding of the roles of CIDEs in lipid metabolism.
Assuntos
Proteínas Reguladoras de Apoptose/metabolismo , Cromossomos/genética , Regulação da Expressão Gênica , Sus scrofa/metabolismo , Sequência de Aminoácidos , Animais , Proteínas Reguladoras de Apoptose/classificação , Proteínas Reguladoras de Apoptose/genética , Clonagem Molecular , Humanos , Dados de Sequência Molecular , Obesidade/genética , Obesidade/metabolismo , Filogenia , Isoformas de Proteínas/classificação , Isoformas de Proteínas/genética , Isoformas de Proteínas/metabolismo , Alinhamento de Sequência , Sus scrofa/genética , Magreza/genética , Magreza/metabolismoRESUMO
Kruppel-like factors (KLF) and the early growth response factor 2 (EGR2) are important zinc finger transcription factors in vertebrates. We have cloned the full length coding sequence (CDS) of porcine KLF5, KLF7 and EGR2, which are 1374, 909 and 1416 bp, respectively. KLF4, KLF5 and EGR2 were then chromosomally mapped to porcine 1q28-29, 11q13-14 and 14q23-25, respectively. Moreover, the tissue expression patterns of KLF4, KLF5, KLF7 and EGR2 imply their probable roles in specific tissues. This is the first report of the basic study of these zinc finger transcription factors in pigs; this information will be helpful for future functional studies.
Assuntos
Mapeamento Cromossômico/métodos , Proteína 2 de Resposta de Crescimento Precoce/genética , Proteína 2 de Resposta de Crescimento Precoce/metabolismo , Fatores de Transcrição Kruppel-Like/genética , Fatores de Transcrição Kruppel-Like/metabolismo , Suínos/genética , Suínos/metabolismo , Animais , Perfilação da Expressão Gênica , Fator 4 Semelhante a Kruppel , Especificidade de Órgãos , Especificidade da Espécie , Distribuição TecidualRESUMO
Angiopoietin-like protein 3 and -4 (ANGPTL3 and -4) are two members of angiopoietin-like proteins (ANGPTLs), which have the signature structure of the angiopoietin family but cannot bind to the TIE2 receptor. It has been reported that they both affect lipid metabolism by inhibiting the activity of lipoprotein lipase (LPL). Here we report the cDNA cloning, chromosome mapping and expression analysis of ANGPTL3 and -4 in pigs. Sequence analysis shows that ANGPTL3 contains an open reading frame of 1,389 bp, which encodes 462 amino acids, and ANGPTL4 contains a coding region of 1,239 bp, which encodes 412 amino acids. Porcine ANGPTL3 deduced amino acid sequence shares 83% and 73.7% identity with human and mouse, respectively, and ANGPTL4 shares 79.4% and 77.7% amino acid identity with human and mouse, respectively. Porcine ANGPTL3 and -4 were mapped to the 6q31-->q35 and 2q21-->q24 region, respectively, by radiation hybrid mapping. Tissue distribution analysis indicated that porcine ANGPTL3 mRNA was exclusively expressed in liver, and porcine ANGPTL4 was ubiquitously expressed with the highest abundance in white adipose tissue. Furthermore, the mRNA level of ANGPTL3 and -4 in liver and the mRNA level of ANGPTL4 in white adipose tissue were significantly higher in genetically obese pigs than in their lean counterparts. This is the first report of molecular cloning and characterization of ANGPTL3 and -4 in pigs, which will be helpful for a better understanding of the role of ANGPTLs in lipid metabolism.
Assuntos
Angiopoietinas/genética , Mapeamento Cromossômico , Peptídeos e Proteínas de Sinalização Intercelular/genética , Regiões 3' não Traduzidas , Regiões 5' não Traduzidas , Animais , Sequência de Bases , Clonagem Molecular , Primers do DNA , DNA Complementar , Masculino , Obesidade/genética , Obesidade/veterinária , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Suínos , Doenças dos Suínos/genéticaRESUMO
Adiponectin is a cytokine secreted specifically by adipocytes that has been proposed to enhance insulin sensitivity and prevent atherosclerosis. Adiponectin receptors (adipoR1 and adipoR2) are recently found in mice which act as receptors for globular and full-length adiponectin to mediate the fatty-acid oxidation and glucose uptake in muscle and liver. The primary goal of this study was to examine chromosome localization of porcine adiponectin and adiponectin receptors and the gene expression pattern in various tissues of pigs of the three genes. Radiation hybrid mapping demonstrated that porcine adiponectin, adipoR1 and adipoR2 were located to chromosome13q36-41, 10p11 and 5q25, in the regions that were syntenic to the homologs of human genes, respectively. Semi-quantitative RT-PCR showed that porcine adiponectin mRNA was specifically expressed in adipose tissue and porcine adipoR1 and adipoR2 mRNA were ubiquitously expressed in many tissues except brain. Comparison to adipoR2 mRNA which was highly expressed in liver, heart, kidney, adipose tissues and lung, adipoR1 mRNA was expressed at relatively high levels in porcine muscle, leukocytes and epididymis. Our data provide basic molecular information useful for the further investigation on the function of the three genes.