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OBJECTIVE: Copy number variations (CNVs) detected by high-resolution single nucleotide polymorphism microarrays (SNP arrays) have been associated with congenital heart defects (CHDs). The genetic mechanism underlying the development of CHDs remains unclear. METHODS: High-resolution SNP arrays were used to detect CNVs and traditional chromosomal analyses, respectively, were carried out on 60 and 249 fetuses from gestational 12-37 weeks old, having isolated or complex CHDs that were diagnosed using prenatal ultrasound. RESULTS: Twenty of the 60 fetuses (33.5%) had abnormalities, of which 23 CNVs (12 pathogenic, five probable pathogenic and six of undetermined significance) were detected by SNP arrays, and two distinct CNVs were present in three of these fetuses. In addition, in 39 patients with isolated congenital heart disease who had normal karyotypes, abnormal CNVs were present in 28.2% (11/39), and in patients with complex coronary artery disease, 19.0% (4/21) had abnormal karyotypes and 42.9% (9/21) had abnormal CNVs. In patients with complex coronary artery disease, 19.0% (4/21) had abnormal karyotypes and 42.9% (9/21) had abnormal CNVs. CONCLUSIONS: In conclusion, genome-wide high-resolution SNP array can improve the diagnostic rate and uncover additional pathogenic CNVs. The submicroscopic deletions and duplications of Online Mendelian Inheritance in Man (OMIM) genes found in this study have haploinsufficient (deletion) or triplosensitive (duplication) traits, which further clarify the etiology and inheritance of CHDs.
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Doença da Artéria Coronariana , Cardiopatias Congênitas , Gravidez , Feminino , Humanos , Variações do Número de Cópias de DNA , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/genética , Análise em Microsséries , Cariótipo Anormal , Aberrações Cromossômicas , Polimorfismo de Nucleotídeo Único , Diagnóstico Pré-NatalRESUMO
Objective:To investigate the prevalence of the decline of intrinsic capacity(IC)and to explore the effect of intrinsic capacity decline on falls and hospital readmission during 1 year follow-up.Methods:A total of 311 elderly patients treated in Geriatrics Department of Zhejiang Hospital were enrolled.General information and intrinsic ability data, including cognitive(simple mental state inventory), motor(Tinetti-Balance Scale and 4 m test), vitality(grip strength and mini-nutrition assessment table), perception(self-rated vision or hearing impairment), and psychosocial(Geriatric depression scale), were collected at admission.Falls and hospital readmission within 1 year after discharge were followed up.Multivariate Logistic regression analysis was used to investigate the relationship of baseline intrinsic ability at admission with falls and hospital readmission during 1-year follow-up.Results:Of 311 elderly hospitalized patients, 282(90.7%)had intrinsic capacity decline.During 1 year follow-up, 38 elderly patients(12.2%)had falls and 69 elderly patients(22.2%)were hospital readmitted.After adjusting for confounding factors such as age, gender, education level, comorbidities, multiple medications, fear of falling, and assistive tool use and so on, Logistic regression analysis showed that decreased balance ability was a risk factor for falls within 1 year in elderly patients( OR=3.515, 95% CI: 1.089-11.346, P=0.036), and slow walking speed was a risk factor for one-year hospital readmission( OR=2.426, 95% CI: 1.181-4.983, P=0.016). Conclusions:Decreased motor capacity is closely associated with falls and hospital readmission within 1 year in older patients.Great attention should be paid to the assessment and intervention of motor ability in elderly patients.
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Purpose To analyze the expression and prog-nostic role of JMJD2D in lung adenocarcinoma.Methods In this study,the expression of JMJD2D mRNA in lung adenocarci-noma and prognosis were analyzed using TCGA and GEO data-bases.The protein expression and prognostic value of JMJD2D in lung adenocarcinoma were further validated by immunohisto-chemistry.GSEA analysis was performed to identify signaling pathways associated with JMJD2D,with review of the relevant literature.Results The expression of JMJD2D mRNA in lung adenocarcinoma in TCGA database(513 cases of lung adenocar-cinoma and 59 cases of paracancerous tissue)and GEO database(46 cases of lung adenocarcinoma and 45 cases of adjacent tis-sue)were significantly higher than those in the paracancerous tissues.Survival analysis showed that the overall survival of pa-tients with low expression of JMJD2D mRNA was significantly higher than that of patients with high expression,and high ex-pression of JMJD2D mRNA was associated with poor prognosis in patients with lung adenocarcinoma.The expression of JMJD2D in 208 cases of lung adenocarcinoma was higher(96.15%)than that in adjacent tissues(9.13%)(P<0.001),and its high expression was related to the prognosis.The results of GSEA analysis showed that JMJD2D high expression was signifi-cantly enriched in DNA damage repair,DNA replication and cell cycle regulation.Conclusion This study identifies high expres-sion of JMJD2D as an adverse prognostic factor in lung adenocar-cinoma.Further research on JMJD2D may provide new thera-peutic targets for lung adenocarcinoma.
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Spinal cerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is the result of abnormal repeat amplification of CAG of the ATXN3 gene. It is one of the main types of autosomal dominant ataxia, with motor symptoms of cerebellar ataxia, mainly accompanied by non-motor symptoms, such as ocular symptoms, psychiatric symptoms, and nutritional disorders. Currently, no effective treatment is available for patients with SCA3. The construction of induced pluripotent stem cells (iPSCs) from two SCA3 patients (14/74 CAG repeats) will be an excellent tool for studying SCA3 disease mechanisms and for drug screening.
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Ataxia Cerebelar , Células-Tronco Pluripotentes Induzidas , Ataxina-3/genética , Ataxina-3/metabolismo , Ataxia Cerebelar/metabolismo , Humanos , Células-Tronco Pluripotentes Induzidas/metabolismo , Leucócitos Mononucleares/metabolismo , Mutação/genética , Proteínas Repressoras/genética , Proteínas Repressoras/metabolismoRESUMO
Apolipoprotein (apo) B is a large, amphipathic glycoprotein which plays an important role in human lipoprotein metabolism. The 43-kb APOB gene located on the short arm of human chromosome 2 and consisted of 29 exons, mutations in the APOB gene can give rise to either hypo- or hypercholesterolemia. We used peripheral blood mononuclear cells (PBMCs) from a volunteer carrying the APOB mutation (c.10579C>T, p.Arg3527Trp) located in exon 9 to establish induced pluripotent stem cells (iPSC), which will be an effective means to reveal the key biologically relevant metabolic mechanisms, a powerful tool for medicine selection and related research.
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Células-Tronco Pluripotentes Induzidas , Apolipoproteínas B/genética , Éxons/genética , Humanos , Leucócitos Mononucleares , Mutação/genéticaRESUMO
Myoclonus Epilepsy and Ataxia due to Potassium channel mutation (MEAK) is a rare epilepsy caused by changes in the structure and function of potassium channels due to mutations in the potassium voltage-gated channel subfamily C member 1 (KCNC1) gene. MEAK is one of the progressive myoclonus epilepsy (PME), and there are few studies on MEAK pathogenesis and targeted drugs. Here, we used peripheral blood from MEAK patients with KCNC1 (c.959G > A) gene mutation to establish induced pluripotent stem cells (iPSC). The iPSC of KCNC1 mutation established by us is a powerful tool for related research.
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Objective:To investigate the impact of geriatric syndromes on physical performance and fall risk in elderly patients with type 2 diabetes mellitus.Methods:A total of 179 elderly inpatients and outpatients with diabetes mellitus in the geriatric department of Zhejiang Hospital were recruited in this cross-sectional study.According to the number of geriatric syndromes including frailty, cognitive impairment, malnutrition, depression, poly-pharmacy and co-morbidity, patients were classified into Group A(n=40, with ≤1 geriatric syndrome), Group B(n=84, with 2-3 geriatric syndromes)and Group C(n=55, with ≥4 geriatric syndromes). Clinical data and physical performance status, fall risk and one-year fall history were compared between the groups.Effects of each geriatric syndrome on disability in daily life, balance and gait ability, and increased fall risk in elderly patients were further analyzed.Results:Patients with more geriatric syndromes were older, had a higher proportion of using walking aids and a higher prevalence of disability in daily life, balance and gait impairment, and increased fall risk( P<0.05). Furthermore, univariate and multivariate Logistic regression indicated that frailty and malnutrition were risk factors for disability in daily life( OR=3.467 and 3.369, P<0.05)and balance and gait impairment( OR=3.031 and 3.266, P<0.05), and that cognition impairment was a risk factor for increased fall risk( OR=2.559, P<0.05)and balance and gait impairment( OR=3.930, P<0.05). Conclusions:Frailty, malnutrition and cognition impairment can lead to physical performance impairment and increased fall risk in elderly patients with type 2 diabetes mellitus.Clinical intervention should be conducted to improve the quality of life in elderly adults.
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Objective:To investigate the clinical efficacy of neoadjuvant chemotherapy for the resectable locally advanced adenocarcinoma at the gastroesophageal junction.Methods:A retrospective cohort study was conducted to analyze 86 patients with resectable locally advanced Siewert type Ⅱ and Ⅲ adenocarcinoma at the gastroesophageal junction (T 3-4N +M 0) who were admitted to the Panzhihua Central Hospital of Sichuan Province from January 2013 to January 2016. All the patients were divided into the neoadjuvant chemotherapy group [preoperative XELOX regimen (oxaliplatin + capecitabine) adjuvant chemotherapy + surgery + postoperative XELOX regimen adjuvant chemotherapy, 46 cases] and non-neoadjuvant chemotherapy group (surgery + postoperative XELOX regimen adjuvant chemotherapy, 40 cases) according to whether neoadjuvant chemotherapy was performed before surgery. The total gastrectomy + Roux-en-Y esophagojejunostomy + D 2 lymphadenectomy or proximal subtotal gastrectomy + esophageal gastric remnant anastomosis + D 2 lymphadenectomy were applied to patients by the same team of doctors. The observation indicators included treatment situations, results of postoperative pathological examination and prognosis in the two groups. Results:In the neoadjuvant chemotherapy group, 25 patients (54.3%) had partial remission (PR), 21 patients (45.7%) had stable disease (SD), the clinical response rate was 54.3% (25/46), tumor control rate was 100.0% (46/46), and clinical stage reduction rate was 37.0% (17/46). Compared with the non-neoadjuvant chemotherapy group, the neoadjuvant chemotherapy group had a higher R 0 resection rate [100.0% (46/46) vs. 80.0% (32/40), χ2 = 4.024, P = 0.045], and in the neoadjuvant chemotherapy group, the pathological complete remission [tumor regression grade (TRG) 0] rate was 13.0% (6/46), and the overall pathological response (TRG 1 + TRG 0) rate was 56.5% (26/46). The postoperative pathological examination showed that the neoadjuvant chemotherapy group and the non-neoadjuvant chemotherapy group had statistically significant differences in the longest tumor diameter, vessel carcinoma embolus, perineural invasion, and pathological TNM staging (all P < 0.05). However, there was no statistical difference in the total humber of lymph nodes, the number of positive lymph nodes, pathological T stage, N stage, and human epidermal growth factor receptor 2 (HER2) expression in specimens (all P > 0.05). In the neoadjuvant chemotherapy group, 6 patients had grade 3 adverse reactions, and chemotherapy was suspended or the dose was adjusted. Adverse reactions in the blood system included the red blood cells reduction, white blood cells reduction and thrombocytopenia. Other adverse reactions included nausea, vomiting, and decreased appetite. There were no deaths related to radiotherapy. In the neoadjuvant chemotherapy group, the median tumor-free survival time was 20 months (5-36 months), and the 1-year and 3-year tumor-free survival rates were 89.5% and 52.4%, respectively; the median postoperative overall survival time was 20 months (9-36 months), and the 1-year and 3-year overall survival rates were 91.0% and 48.0%, respectively; 12 patients had tumor recurrence. In the non-neoadjuvant chemotherapy group, the median tumor-free survival time was 19 months (10-35 months), and the 1-year and 3-year tumor-free survival rates were 87.3% and 30.0%, respectively. The median postoperative overall survival time was 20 months (10-35 months), the 1-year and 3-year overall survival rates were 87.0% and 18.6%, respectively; 14 patients had tumor recurrence. There was a statistical difference in the tumor-free survival between the two groups ( χ2 = 4.522, P = 0.03), and there was no statistical difference in the overall survival between the two groups ( χ2 = 3.717, P > 0.05). Conclusions:XELOX regimen neoadjuvant chemotherapy is safe and effective for patients with resectable locally advanced Siewert type Ⅱ and Ⅲ adenocarcinoma at the gastroesophageal junction. It can decrease the tumor clinical stage and increase the R 0 resection rate and tumor-free survival rate.
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Asparagine synthetase (ASNS) deficiency (ASNSD; MIM #615574) is a rare neurodevelopmental disorder caused by mutations in the ASNS gene. The ASNS gene maps to cytogenetic band 7q21.3 and is 35 kb long. ASNSD is characterised by congenital microcephaly, severely delayed psychomotor development, seizures, and hyperekplexic activity. Here, we reported a family with compound heterozygous mutations in ASNS (NM_001178076:c.551C>T; c. 944A>C) and established induced pluripotent stem cells (iPSCs) from blood samples. To date, limited functional data have been reported to explain the underlying pathophysiology of ASNSD; therefore, iPSCs from these patients may be powerful tools for studying disease mechanisms.
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Aspartato-Amônia Ligase/deficiência , Aspartato-Amônia Ligase/genética , Diferenciação Celular , Células-Tronco Pluripotentes Induzidas/patologia , Leucócitos Mononucleares/patologia , Mutação , Transtornos do Neurodesenvolvimento/patologia , Adulto , Animais , Células Cultivadas , Criança , Feminino , Heterozigoto , Humanos , Células-Tronco Pluripotentes Induzidas/metabolismo , Leucócitos Mononucleares/metabolismo , Masculino , Camundongos , Camundongos Endogâmicos NOD , Camundongos SCID , Transtornos do Neurodesenvolvimento/enzimologia , Transtornos do Neurodesenvolvimento/genética , Teratoma/enzimologia , Teratoma/genética , Teratoma/patologiaRESUMO
Researchers worldwide are increasingly reporting the societal impact of their research as part of national research productivity assessments. However, the challenges they encounter in developing their impact case studies against specified government assessment criteria and how pitfalls can be mitigated are not reported. This paper examines the key steps taken to develop an Aboriginal Family Wellbeing (FWB) empowerment research impact case study in the context of an Australian Research Council (ARC) pilot research impact assessment exercise and the challenges involved in applying the ARC criteria. The requirement that researchers demonstrate how their institutions support them to conduct impactful research has the potential to create supportive environments for researchers to be more responsive to the needs of users outside academia. However, the 15-year reference period for the associated research underpinning the reported impact and the focus on researcher's current institutional affiliation constitute potential constraints to demonstrating the true impact of research. For researchers working with Indigenous people, relationships that build over long periods of time, irrespective of university affiliation, are critical to conducting impactful research. A more open-ended time-frame, with no institutional restrictions for the 'associated research' provides the best opportunity to demonstrate the true benefits of research not only for Indigenous people but for Australian society more broadly.
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Pesquisa Participativa Baseada na Comunidade/métodos , Saúde da Família/etnologia , Havaiano Nativo ou Outro Ilhéu do Pacífico , Avaliação de Programas e Projetos de Saúde/métodos , Austrália , Pesquisa Participativa Baseada na Comunidade/normas , Relações Comunidade-Instituição , Humanos , Projetos Piloto , Poder Psicológico , Avaliação de Programas e Projetos de Saúde/normasRESUMO
Objective To investigate the detection rate of motoric cognitive risk syndrome (MCR)and explore the possible risk factors.Methods A total of 429 elderly patients from geriatric department of Zhejiang Hospital from October 2014 to September 2018 were recruited in the crosssectional study.General information and functional assessment including fall history,self-reported visual impairment and hearing impairment,depressive symptom,cognitive function and gait speed were collected.Patients with MCR were screened out according to the MCR diagnostic criteria.Multiple logistic regression analysis was used to analyze the associated risk factors.Results Seventeen patients(4.0%)met the MCR diagnostic criteria.The proportions of obesity,polypharmacy,cerebral vascular diseases,self-reported hearing impairment,depressive symptoms and slow gait were higher in MCR patients than in non-MCR patients(P<0.05).Compared with non-MCR patients,MCR patients had lower mini mental state examination (MMSE) scores (P < 0.01).After adjusting for associated confounding factors,multiple logistic regression analysis showed obesity (OR =3.74,95 % CI:1.14-12.23,P < 0.05) and depressive symptoms (OR =5.79,95% CI:1.76-19.06,P < 0.01) were risk factors for MCR.Conclusions MCR is not uncommon in elderly patients.Obesity and depressive symptoms are closely associated with an increased risk of MCR.
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Objective@#To investigation HER2 status in gastric adenocarcinoma of Chinese and contributing factors to the HER2 expression. @*Methods@#HER2 status of 40 842 gastric adenocarcinomas and clinical data were retrospectively collected from 23 hospitals dated from 2013 to 2016. The association between HER2 positivity and clinicopathologic features was analyzed. @*Results@#Of the 40 842 patients the median age was 62 years, the male female ratio was 2.6∶1.0. The rate of HER2 positivity was 8.8% (3 577/40 842). HER2 expression was related to the tissue type, tumor location, Lauren classification and tumor differentiation (P values: 0.009, 0.001, <0.01 and <0.01, respectively). Different HER2 expression status was observed between primary and recurrent tumors in 7.6% (48/635) cases. The rates of HER2 positivity ranged from 2% to 10% among different institutions. The rates of HER2 FISH amplification were dramatically different among the 23 hospitals (0-100%) with an average rate of 10% (810/8 156) in patients with HER2 IHC 2+ . @*Conclusions@#HER2 expression is associated with clinicopathologic characteristics. HER2 re-assessment of tumor tissue and use of in situ hybridization techniques increase HER2 positivity. The current retrospective study should reflect the HER2 status in gastric adenocarcinoma of Chinese patients.
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<p><b>OBJECTIVE</b>To investigate the improvement of islet β-cell function after sleeve gastrectomy with ileal interposition duodenojejunal bypass operation in non-obese type 2 diabetes mellitus.</p><p><b>METHODS</b>Clinical data of 54 non-obese type 2 diabetes mellitus cases undergoing sleeve gastrectomy with ileal interposition duodenojejunal bypass operation in our hospital from March 2009 to October 2011 were retrospectively analyzed. Fasting glucose, glycosylated hemoglobin(HbA1c), fasting insulin, body mass index(BMI), insulin resistance index(HOMA-IR), homeostasis model β-cell function(HOMA-β), early phase insulin secretion index (DelteI30/DelteG30) and area under curve of insulin(AUCINS) were measured before operation, and 1, 3, 6, 12, 24 months after operation with standard oral glucose tolerance test(OGTT).</p><p><b>RESULTS</b>At 24 months after operation, HbA1c decreased from preoperative (8.2±0.8)% to postoperative (6.3±0.1)%(P<0.01), as did the fasting glucose [(9.2±0.6) mmol/L vs. (5.9±0.5) mmol/L, P<0.01] and HOMA-IR (2.1±0.6 vs. 0.8±0.3, P<0.01). The postoperative BMI was not significantly different from the preoperative level. HOMA-β increased (28.4±9.2 vs. 56.3±12.8, P<0.05). DelteI30/DelteG30 increased after surgery (0.8±0.2 vs. 1.8±0.7, P<0.01). AUCINS was (42.6±17.1) mIU/L, (31.5±18.6) mIU/L, (34.71±12.9) mIU/L, (49.2±16.3) mIU/L, (78.3±21.7) mIU/L, (74.8±15.2) mIU/L before operation and at postoperative 1 month, 3 months, 6 months, 12 months, 24 months, respectively, indicating an increase in AUCINS 6 months later. Linear correlation analysis showed that HbA1c was negatively correlated with HOMA-β, DelteI30/DelteG30 and AUCINS (r=-0.628, P<0.01; r=-0.571, P<0.01; r=-0.606, P<0.01), and positively correlated with HOMA-IR (r=0.784, P<0.01).</p><p><b>CONCLUSIONS</b>Sleeve gastrectomy with ileal interposition duodenojejunal bypass can improve islet β cells function. It plays an important role in the surgical treatment of diabetes.</p>
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Humanos , Índice de Massa Corporal , Diabetes Mellitus Tipo 2 , Cirurgia Geral , Gastrectomia , Teste de Tolerância a Glucose , Hemoglobinas Glicadas , Insulina , Resistência à Insulina , Células Secretoras de Insulina , Fisiologia , Intestino Delgado , Cirurgia Geral , Estudos Retrospectivos , Estômago , Cirurgia GeralRESUMO
Objective To evaluate the early effects on insulin resistance following sleeve gastrectomy with ileal interposition duodenojejunal bypass operation.Methods From Jun.2010 to Sep.2011,37 cases of type 2 diabetes mellitus patients [23 male,14 female; mean age (45.2 ± 2.4) years,mean BMI (21.7 ± 1.8) kg/m2] underwent sleeve gastrectomy with ileal interposition duodenojejunal bypass operation.Fasting plasma glucose(FPG),fasting insulin(FIns),body mass index(BMI),and homeostatic model assessment for insulin resistance (HOMAIR) were detected before surgery and on the 10th,20th,30th,and 60th day after surgery.Results The level of FPG was (6.8 ± 0.7) mmol/L,(7.2 ± 0.6) mmol/L,(6.9 ± 0.3) mmol/L respectively on the 10th,20th,and 30th day after surgery,significantly lower than that before surgery[(10.2 ±0.4)mmol/L].The difference had statistical significance (P < 0.05).The level of Fins was (6.3 ± 1.1) mIu/L,(7.1 ± 1.3) mIu/L,and (7.3 ± 1.6) mIu/L respectively on the 10th,20th,and 30th day after surgery,significantly lower than that before surgery[(12.6 ± 1.4)mIu/L].The difference had statistical significance (P < 0.05).The level of lnHOMA-IR was 0.7 ± 0.2,0.9 ± 0.5,and 0.8 ±0.4 respectively on the 10th,20th,and 30th day after surgery,significantly lower than that before surgery (1.8 ±0.6).The differenc had statistical significance(P <0.05).However,the change of BMI was not obvious between before surgery and on the 10th,20th,and 30th day after surgery.The difference had no statistical significance (P > 0.05).on the 60th day after surgery,the level of FPG,Fins,lnHOMA-IR and BMI was significantly reduced compared with that before surgery.The difference had statistical significantce(P <0.05).Conclusion After sleeve gastrectomy with ileal interposition duodenojejunal bypass operation,the early improvement of insulin resistance occurs rapidly and it is iadependent of the loss of BMI.
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Objective To explore the expressions and significances of the tumor stem cell markers CD133-2,CD24 and CD44s in head and neck squamous cell carcinoma (HNSCC) tissues and their association with the clinical pathologic characteristics.Methods Expressions of CD133-2,CD24 and CD44s were analyzed by immunohistochemistry (SP) in 83 cases of primary HNSCC tissues and 46 cases of normal epithelia.Clinicopathological indexes were assessed.Results In primary HNSCC tissues and normal epithelia,the expression rates of CD133-2 and CD24 were 9.64 % (8/83),21.74 % (10/46) and 90.36 % (75/83),46.67 % (21/46)respectively,which had statistically significances (x2 =15.040,5.818,P < 0.05).CD44s expression was detected in primary HNSCC tissues and normal epithelia,but their staining scores had statistical significance (Z =-4.262,P < 0.05).In primary HNSCC tissues,the expression of CD133-2 had negative correlation with differentiation degree (x2 =7.246,P < 0.05),but CD24 and CD44s had positive correlation with differentiation degree (x2 =9.005,44.765,P < 0.05).In addition,the expression of CD44s in primary HNSCC tissues had negative correlation with T classification (x2 =4.650,P < 0.05).Conclusion The expressions of CD24 and CD44s in primary HNSCC tissues are highly up-regulated with tumor cells differentiation,and further research needs to be performed to discover whether or not CD24 and CD44s could be the markers of tumor stem cells of HNSCC.The expression of CD133-2 in primary HNSCC tissues is highly down-regulated with tumor cell differentiation.As one of the tumor stem cell markers of HNSCC,CD133-2 may play an important role in the development and clinical outcomes of tumor.
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ObjectiveTo study the expression of insulin-like growth factor Ⅱ mRNA-binding protein 3 ( IMP3 ) and its clinicopathological significance in breast cancer.MethodsThe Maxvision immunohistochemistry was used to detect the expression of IMP3 protein in 103 cases of breast cancer and the adjacent normal breast tissues.Stem-loop real-time RT-PCR was used to detect the expression level of IMP3 mRNA in 30 cases of breast cancer and the matched non-tumor adjacent tissues.The relationship between the expression of IMP3 and the clinicopathological features of breast cancer was analyzed.Results62 cases were infiltrative ductal carcinoma,3cases were invasive lobular carcinoma,9 cases were microinfiltrative intraductal carcinoma,and 29 cases were special type of carcinoma.The difference of IMP3 expression between breast cancer group and normal breast tissue group had statistical significance( t =19.630,P =0.000)by t test.For infiltrative ductal carcinoma patients,IMP3 expression had no significant relation with age,tumor size,lymph node metastasis,histological grade,pTNM stage,ER,PR,or HER-2 ( P > 0.05 ).IMP3 mRNA expression level of was significantly higher in tumor tissues than in the adjacent normal tissues (P < 0.05 ).No significant association was found between the expression of IMP3 and the histological grade,tumor size,lymph node metastasis ( P > 0.05 ).ConclusionIt is possible that IMP3 plays an important role in the generation,progression,invasion and metastasis of breast cancer.
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A 1-year-old boy developed multiple skin-colored nodules on the forehead and extremities when he was 4 months old.Physical examination revealed that his general condition was well with no hepatomegaly,splenomegaly,lymphadenectasis,testicle abnormality or gingival hypertrophy.Pathologically,the epidermis was normal,while the dermis and subcutaneous tissue were diffusely infiltrated with medium-to large-sized deformed cells,which had a small amount of cytoplasm,oval nucleus,irregular shape and fine chromatin.Some infiltrating cells had nuclear groove and nucleoli.Immunohistochemical studies showed that the tumor cells were positive for S-100 protein,CD56,CD123,CD163,CD68,Ki-67 (40%),weakly positive for CD4 (some),but negative for myeloperoxidase,CD1,CD21.Bone marrow smears showed a 24.5% infltration by monoblasts and promonocytes.A diagnosis of monoblastic sarcoma cutis preceding acute monoblastic leukemia was made.
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Objective To evaluate sleeve gastrectomy with ileal interposition and duodenojejunal bypass for the treatment of nonobese Type 2 diabetes mellitus.Methods Forty one patients of nonobese Type 2 diabetes mellitus underwent sleeve gastrectomy with ileal interposition and duodenojejunal bypass.Fasting glucose ( FPG ),glycosylated hemoglobin ( HbAlc ),fasting insulin and C-peptide,triglycerides (TG),high density lipoprotein(HDL),low density lipeprotein(LDL) were measured preoperatively and on postoperative first,3rd,6th month.Results Mean postoperative follow-up was 9.6 months (range 6-21 months).95% patients achieved adequate glycemic control (HbAlc < 7% ) without antidiabetic medication.Fasting glycemia decreased from ( 9.7 ± 0.4 ) mmol/L to ( 6.2 ± 0.3 ) mmol/L ( P < 0.01 ).Glycosylated hemoglobin decreased from 8.1% ± 1.4% to 5.8% ± 0.6% ( P < 0.01 ).2-hour postprandial blood glucose decreased from ( 13.6 ± 0.7 ) mmol/L to ( 10.6 ± 0.2 ) mmol/L ( P < 0.01 ).Insulin resistance (Homa-R) decreased from 4.8 ± 1.3 to 1.2 ±0.4 (P <0.01 ).Fasting C-peptide increased from ( 3.3 ± 1.7 ) ng/ml to (4.9 ± 0.2 ) ng/ml ( P < 0.01 ).Fasting insulin increased from ( 10.2 + 1.4 ) mlu/L to (15.6±0.7) mlu/L(P<0.01 ).Triglycerides (TG) decreased from (3.1 ±0.5) mmol/L to (1.9 ±0.4) mmol/L ( P < 0.01 ).High density lipoprotein (HDL) increased from ( 1.2 ±± 0.2 ) mmol/L to ( 1.9 ±0.8 ) mmol/L( P < 0.01 ).Low density lipoprotein (LDL) decreased from (3.5 ± 0.3 ) mmol/L to (2.4 ±0.6) mmol/L (P <0.01 ).Hypertension was controlled in 3/7 cases.Microalbuminuria resolved in 78% patients.Retinopathy was improved in 53% cases.Conclusions Sleeve gastrectomy with ileal interposition duodenojejunal bypass is effective for treatment of nonobese type 2 diabetes mellitus as showed by 6 month's follow-up.
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Objective To investigate the expression of cyclooxygenase-2(COX-2)in breast cancer tissues,as well as the relationship between COX-2 and the clinicopathological features.Method The expression of COX-2 was detected in 60 cases of breast cancer tissues and 20 cases of breast normal tissues by using immunohistochemistry,and combined with clinicopathological information for analysis.Results The COX-2 expression rate was 65.0%(39/60)in breast cancer tissues and 10.0%(2/20)in breast normal tissues respectively.There was statistic difference between the two(P<0.01).The over expression of COX-2 was significantly correlated with TNM stages,lymphatic metastasis and the expression of epidermal growuth factor receptor-2(C-erbB-2)(P<0.05 or<0.01).Conclusion The expression of COX-2 in breast cancer tissues is significantly higher,which might play a fairly important role in tumorigenesis and progression of breast cancer.
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Objective To investigate advantages and disadvantages of endoscopic thyroidectomy.Methods A total of 61 consecutive patients with thyroid diseases from December 2003 to August 2004 in this hospital were freely divided into two groups: the Endoscopic Group(30 patients) and the Open Group(31 patients).The operating time,blood loss,hospital stay,postoperative pain assessment,jugular sensation 3 months after operation, swallowing function,and cosmetic outcomes between the two groups were compared.Results The operating time in the Open Group was significantly shorter than that in the Endoscopic Group(78?34 min vs 126?53 min;t=4.125,P=0.000).The intraoperative blood loss was less in the Endoscopic Group(20?13 ml) than in the Open Group(34?19 ml)(t=-3.313,P=0.002).The postoperative pain in the Endoscopic Group was slighter than that in the Open Group 24 and 48 hours after operation(t=3.255,P=0.002;t=-2.598,P=0.012).Three months after operation,jugular hypesthesia and discomfort at swallowing occurred in 1 and 2 patients in the Endoscopic Group,respectively,whereas jugular hypesthesia or paresthesia occurred in 11 patients(?~2=10.594,P=0.001) and discomfort at swallowing happened in 9 patients((?~2=5.773),P=0.016) in the Open Group.All patients in the Endoscopic Group were satisfied with the cosmetic results,but 19 patients in the Open Group complained of unsatisfactory cosmetic outcomes(?~2=52.141,P=0.000).Conclusions Endoscopic thyroidectomy gives little blood loss,mild postoperative pain,and good cosmetic results,being a feasible and safe procedure.