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1.
Zhonghua Nei Ke Za Zhi ; 63(9): 866-873, 2024 Sep 01.
Artículo en Chino | MEDLINE | ID: mdl-39183159

RESUMEN

By analyzing the of genetic testing data of patients with renal polycystic kidney disease and their relatives, this study aims to identify unreported novel gene mutation sites associated with autosomal dominant polycystic kidney disease (ADPKD). Structural prediction software was employed to investigate protein structural changes before and after mutations, explore genotype-phenotype correlations, and enrich the ADPKD gene database. In this single-center retrospective study, patients with multiple renal cysts diagnosed from January 2019 to February 2023 at the Zhong Da Hospital Southeast University were included. Genetic and clinical data of patients and their families were collected. Unreported novel gene mutation sites associated with ADPKD were identified. The AlphaFold v2.3.1 software was used to predict protein structures. Changes in protein structure before and after mutations were compared to explore genotype-phenotype correlations and enrich the ADPKD gene database. Twelve mutated genes associated with renal cysts were detected in 52 families. Nineteen novel gene mutation sites associated with ADPKD were identified, including 17 mutations in the PKD1 gene (one splicing mutation, seven frameshift mutations, four nonsense mutations, one whole-codon insertion, and four missense mutations); one ALG9 missense mutation; and one chromosomal structural variation. Truncating mutations in the PKD1 gene were correlated with a more severe clinical phenotype, while non-truncating mutations were associated with greater clinical heterogeneity. Numerous novel gene mutation sites associated with ADPKD remain unreported. Therefore, it is essential to analyze the pathogenicity of these novel mutation sites, establish genotype-phenotype correlations, and enrich the ADPKD gene database.


Asunto(s)
Mutación , Riñón Poliquístico Autosómico Dominante , Humanos , Riñón Poliquístico Autosómico Dominante/genética , Estudios Retrospectivos , Canales Catiónicos TRPP/genética , Fenotipo , Genotipo , Mutación Missense , Estudios de Asociación Genética , Pruebas Genéticas
2.
Zhonghua Nei Ke Za Zhi ; 63(8): 781-786, 2024 Aug 01.
Artículo en Chino | MEDLINE | ID: mdl-39069867

RESUMEN

We retrospectively analyzed the clinical data of seven patients (four men and three women) with primary hyperoxaluria (PH) type 1 (PH1) in the Department of Nephrology of Zhongda Hospital, Southeast University from January 2018 to October 2023. The mean age at disease onset was 32.1 (range: 26-42) years. The mean age at diagnosis was 40.6 (range: 28-51) years. All patients initially had kidney stones, and three patients were found to have renal insufficiency at the time of disease onset. Among them, two patients underwent hemodialysis immediately. Symptoms at the first visit included bone pain (n=7), joint pain or deformity (n=5), fatigue (n=5), hypotension (n=3), and subcutaneous nodules (n=2). Four patients had a family history of PH. All patients had varying degrees of anemia (60-114 g/L), significant hypoalbuminemia (16.5-32.1 g/L), and hypercoagulable state (D-dimer: 2 230-12 781 µg/L). Seven patients received maintenance hemodialysis; their mean age was 37.7 (range: 26-50) years. The mean duration from disease onset to hemodialysis was 5.6 (range: 0-20) years. Five patients repeatedly experienced dialysis access dysfunction. Three patients underwent kidney transplantation before a diagnosis was made, and all transplanted kidneys lost function due to oxalate deposition. The mean follow-up duration was 14.43 (range: 4-38) months. Unfortunately, one patient died. All seven patients underwent computed tomography of the abdomen. All patients suffered skeletal abnormalities, bilateral nephrolithiasis, and nephrocalcinosis. Six patients carried AGXT gene mutations, including four compound heterozygous mutations and two pure homozygous mutations.The mutation sites included: c.823-824dup.AG (p.S275Rfs*38)(exon 8), c.815-816ins.GA (p.S275Rfs*38)(exon 8), c.595G>A (p.G199S) (exon 5), c.32C>G (p.P11R) (exon 1), and c.638C>T (p.A213V)(exon 6). According to the American College of Medical Genetics and Genomics guidelines, two loci were identified as likely pathogenic variants, seven were identified as pathogenic variants, and one locus was identified as having uncertain significance. In addition, patients 1 and 4 underwent skin biopsy, patient 2 underwent renal transplant biopsy, and patient 3 underwent bone marrow biopsy. Interestingly, significant oxalate deposition was found in the tissues. Therefore, PH1 is a rare autosomal recessive inherited disease. This study not only enhanced the understanding of the clinical characteristics of PH1 patients but also had great significance in early diagnosis and treatment of the disease.


Asunto(s)
Hiperoxaluria Primaria , Mutación , Diálisis Renal , Humanos , Masculino , Hiperoxaluria Primaria/diagnóstico , Hiperoxaluria Primaria/genética , Hiperoxaluria Primaria/complicaciones , Femenino , Adulto , Estudios Retrospectivos , Persona de Mediana Edad , Cálculos Renales/diagnóstico , Trasplante de Riñón
3.
Zhonghua Xue Ye Xue Za Zhi ; 45(1): 54-61, 2024 Jan 14.
Artículo en Chino | MEDLINE | ID: mdl-38527839

RESUMEN

Objective: To evaluate the status of, differences in, and factors influencing quality of life (QoL) in patients with chronic graft-versus-host disease (GVHD). Methods: From September 2021 to February 2023, a cross-sectional study of 140 patients with chronic GVHD was conducted at our center. Symptom burden was assessed by the Lee Symptomatology Scale (LSS), and QoL was assessed by the Medical Outcome Study 36-Item Short-Form Health Survey (SF-36) (version 1) and five-level EuroQoL five-dimensional questionnaire (EQ-5D-5L). Results: Data from 140 respondents, including 32 (22.9%) with mild chronic GVHD, 87 (62.1%) with moderate chronic GVHD, and 21 (15.0%) with severe chronic GVHD, were analyzed. Of the respondents, 61.4% were male, and the median transplantation age was 34 (15-68) years. The primary diagnoses were acute myeloid leukemia (50.0%), acute lymphoblastic leukemia (20.0%), and myelodysplastic syndrome (15.0%). The common chronic GVHD-affected organs included the skin in 74 patients (52.9%), the eyes in 57 patients (40.7%), and the liver in 50 patients (35.7%). Among the whole cohort, the eye (20.48±23.75), psychological (16.13±17.00), and oral (13.66±20.55) scores were highest in the LSS group. The physiological function (36.07±11.13), social function (36.10±10.68), and role-emotional functioning (38.36±11.88) scores were lowest in the SF-36 group. The EQ-5D index was 0.764. The total LSS scores for mild, moderate, and severe chronic GVHD were 6.51±6.15, 10.07±5.61, and 20.90±10.09, respectively. The SF-36 physical component scores (PCSs) were 43.12±6.38, 40.73±7.14, and 36.97±6.97, respectively, and the mental component scores (MCSs) were 43.00±8.47, 38.90±9.52, and 28.96±9.63, respectively. The EQ-5D values were 0.810±0.124, 0.762±0.179, and 0.702±0.198, respectively. The multivariate analysis showed that the overall symptom burden (ß=-0.517), oral symptom burden (ß=-0.456), National Institute of Health (NIH) criteria for the eyes (ß=-0.376), and nutrition-related symptom burden (ß=-0.211) were significantly negatively correlated with the PCS. The NIH score (ß=-0.260) was negatively correlated with the MCS score. Oral symptom burden (ß=-0.400), joint/fascia NIH criteria (ß=-0.332), number of involved systems (ß=-0.253), overall NIH criteria (ß=-0.205), and number of immunosuppressants taken (ß=-0.171) were significantly negatively correlated with the EQ-5D score (all P<0.05). Medium to strong correlations were found between the EQ-5D score and the SF-36 score (|r|=0.384-0.571, P<0.001). Conclusions: The QoL of patients with chronic GVHD is impaired, and the more severe the disease, the poorer the QoL. Overall symptom burden, severity of eyes, and oral symptom burden were the most important factors affecting QoL.


Asunto(s)
Síndrome de Bronquiolitis Obliterante , Calidad de Vida , Humanos , Masculino , Adulto , Persona de Mediana Edad , Anciano , Femenino , Calidad de Vida/psicología , Estudios Transversales , Encuestas y Cuestionarios , Carga Sintomática , Enfermedad Crónica
4.
Zhonghua Gan Zang Bing Za Zhi ; 31(10): 1068-1074, 2023 Oct 20.
Artículo en Chino | MEDLINE | ID: mdl-38016772

RESUMEN

Objective: To study the correlation between patients with type 2 diabetes mellitus combined with nonalcoholic steatohepatitis in order to provide theoretical support for the treatment of NAFLD through aerobic exercise performance. Methods: 253 cases with T2DM combined with NAFLD were selected. 93 cases consented to undergo a liver biopsy. Among them, 74 cases with liver biopsy successfully passed the symptom-limited cardiopulmonary exercise test (CPET) and respiratory quotient (RQ)≥1.05. Patients were divided into two groups according to the NAFLD activity score (NAS) of the pathological biopsy: the non-NASH group (NAS < 4) and the NASH group (NAS≥4). The differences in general clinical and biochemical indicators and exercise parameters were compared between the two groups. The relevant factors that affect aerobic exercise performance in NAFLD patients were explored by correlation and regression analysis. Results: The peak oxygen uptake [VO2 @ peak, (17.82 ± 5.61) ml·kg(-1)·min(-1) and (23.14 ± 5.86) ml·kg(-1)·min(-1)] and anaerobic threshold [VO2 @ AT, (11.47 ± 3.12) ml·kg(-1)·min(-1) and (13.81 ± 3.53) ml·kg(-1)·min(-1)] were lower in the NASH group than those in the non-NASH group in T2DM patients, with P < 0.01, indicating a significant decrease in aerobic exercise performance in NASH patients compared to non-NASH patients. Correlation analysis showed that patients with T2DM combined with NAFLD VO2@peak was positively correlated with RQ, carbohydrate oxidation rate (%CHO), daily carbohydrate energy supply (CHO Kcal/d), high-density lipoprotein cholesterol (HDL-C), and maximal voluntary ventilation (MVV) (r 0.360, 0.334, 0.341, 0.255, 0.294, P < 0.05 or P < 0.01, respectively) and negatively correlated with NAS score, fat attenuation, liver stiffness, fat oxidation rate (%FAT), daily fat energy supply (FAT Kcal/d), aspartate aminotransferase (AST), alanine aminotransferase (ALT), body mass, and body mass index (BMI) (r -0.558, -0.411, -0.437, -0.340, -0.270, -0.288, -0.331, -0.295, -0.469, P < 0.05 or P < 0.01, respectively). VO2@AT were positively correlated with RQ, %CHO, total cholesterol (TC), and HDL-C (r 0.351, 0.247, 0.303, 0.380, P < 0.05 or P < 0.01, respectively), while it was negatively correlated with NAS score, fat attenuation, liver stiffness, %FAT, FAT (Kcal/d), ferritin (Fer), ALT, AST, body weight, and BMI (r -0.330, -0.384, -0.428, -0.270, -0.318, 0.320, -0.404, -0.416, -0.389, -0.520, P < 0.05 or P < 0.01, respectively). Stepwise multiple regression analyses revealed that BMI, RQ, and NAS scores were independent correlated factors of aerobic exercise performance. Conclusion: Hepatic inflammation and fibrosis affect the aerobic exercise performance of patients with T2DM combined with NAFLD.


Asunto(s)
Diabetes Mellitus Tipo 2 , Enfermedad del Hígado Graso no Alcohólico , Humanos , Enfermedad del Hígado Graso no Alcohólico/complicaciones , Enfermedad del Hígado Graso no Alcohólico/patología , Diabetes Mellitus Tipo 2/complicaciones , Colesterol , Ejercicio Físico , Carbohidratos , Hígado/patología
5.
Zhonghua Er Ke Za Zhi ; 60(1): 30-35, 2022 Jan 02.
Artículo en Chino | MEDLINE | ID: mdl-34986620

RESUMEN

Objective: To compare the clinical characteristics of different types of human adenovirus (HAdV) infection in hospitalized children with acute respiratory infection in Beijing, and to clarify the clinical necessity of adenovirus typing. Methods: In a cross-sectional study, 9 022 respiratory tract specimens collected from hospitalized children with acute respiratory infection from November 2017 to October 2019 in Affiliated Children's Hospital, Capital Institute of Pediatrics were screened for HAdV by direct immunofluorescence (DFA) and (or) nucleic acid detection. Then the Penton base, Hexon and Fiber gene of HAdV were amplified from HAdV positive specimens to confirm their HAdV types by phylogenetic tree construction. Clinical data such as laboratory results and imaging data were analyzed for children with predominate type HAdV infection using t, U, or χ2 test. Results: There were 392 cases (4.34%) positive for HAdV among 9 022 specimens from hospitalized children with acute respiratory infection. Among those 205 cases who were successfully typed, 131 were male and 74 were female, age of 22.6 (6.7, 52.5) months,102 cases (49.76%) were positive for HAdV-3 and 86 cases (41.95%), HAdV-7, respectively, while 17 cases were confirmed as HAdV-1, 2, 4, 6, 14 or 21. In comparison of clinical characteristics between the predominate HAdV type 7 and 3 infection, significant differences were shown in proportions of children with wheezing (10 cases (11.63%) vs. 25 cases (24.51%)), white blood cell count >15 ×109/L (4 cases (4.65%) vs.14 cases (13.73%)), white blood cell count <5×109/L (26 cases (30.23%) vs.11 cases (10.78%)), procalcitonin level>0.5 mg/L (43 cases (50.00%) vs. 29 cases (28.43%)), multilobar infiltration (45 cases (52.33%) vs.38 cases (37.25%)), pleural effusion (23 cases (26.74%) vs. 10 cases (9.80%)), and severe adenovirus pneumonia (7 cases (8.14%) vs. 2 cases (1.96%)) with χ²=5.11, 4.44, 11.16, 9.19, 4.30, 9.25, 3.91 and P=0.024, 0.035, 0.001, 0.002, 0.038, 0.002, 0.048, respectively, and also in length of hospital stay (11 (8, 15) vs. 7 (5, 13) d, Z=3.73, P<0.001). Conclusions: HAdV-3 and 7 were the predominate types of HAdV infection in hospitalized children with acute respiratory tract infection in Beijing. Compared with HAdV-3 infection, HAdV-7 infection caused more obvious inflammatory reaction, more severe pulmonary symptoms, longer length of hospital stay, suggesting the clinical necessity of further typing of HAdVs.


Asunto(s)
Infecciones por Adenovirus Humanos , Adenovirus Humanos , Infecciones del Sistema Respiratorio , Infecciones por Adenovirus Humanos/epidemiología , Adenovirus Humanos/genética , Beijing/epidemiología , Niño , Niño Hospitalizado , Estudios Transversales , Femenino , Humanos , Lactante , Masculino , Filogenia , Infecciones del Sistema Respiratorio/epidemiología
6.
Zhonghua Yi Xue Za Zhi ; 100(38): 3014-3017, 2020 Oct 20.
Artículo en Chino | MEDLINE | ID: mdl-33086454

RESUMEN

Objective: To investigate the effect of Na(+)/K(+)-ATPase inhibitor ouabain on the proliferation and division of liver cancer HepG2 cells, and to explore the anticancer mechanism. Methods: HepG2 cells were exposed with different concentrations of ouabain (0.1, 1, 10 µmol/L) for 24 h, the proliferation ability was appraised using CCK-8, and the HepG2 cells was as a control group. The status of chromosome separation was detected with cell immunofluorescence (ICC) coupled to confocal microscope. The expression levels of AURKA, mTOR, p-mTOR, ERK and p-ERK protein were analyzed using western blot. Results: After treating with 0.1, 1 and 10 µmol/L of ouabain for 24 h, the inhibitory rate of cells were (23.5±4.57)%, (49.80±5.32)%, and (72.10±5.62)%, respectively. Ouabain could significantly inhibit the proliferation of HepG2, and presented in a dose-dependent manner(F=32.8, P<0.05). The ICC results showed that the chromosome separation disorders occurred in HepG2 cells treated with 1 µmol/L for 24 h, and the spindle diameter of HepG2 cells with ouabain treatment was decreased significantly compared with the control group(t=9.58, P<0.05). The results of western blot showed that the expression levels of AURKA, p-mTOR and p-ERK expressions in HepG2 cells treated with 1 µmol/L of ouabain were significantly decreased compared with the control group(F=16.26, 8.32, 33.59, P<0.05). Ouabain inhibited the growth of hepatocellular carcinoma cells in nude mice(F=370.20, P<0.05). Conclusion: Ouabain can induce chromosome division disorder and inhibit the proliferation in liver cancer HepG2 cells by inhibiting AURKA signaling pathway.


Asunto(s)
Carcinoma Hepatocelular , Neoplasias Hepáticas , Animales , Ratones , Ratones Desnudos , Ouabaína/farmacología , Transducción de Señal , ATPasa Intercambiadora de Sodio-Potasio/metabolismo
7.
Fa Yi Xue Za Zhi ; 36(3): 299-304, 2020 Jun.
Artículo en Inglés, Chino | MEDLINE | ID: mdl-32705840

RESUMEN

ABSTRACT: Objective To provide reference indexes and theoretical basis for age estimation of blood pools by investigating the entire drying process and monitoring the change of morphology and mass. Methods Four 15 mL blood pool samples were prepared on the clean ceramic plate. The change of morphology and mass of blood pools in a closed dark environment with a temperature of (20.0±0.5) ℃ and a humidity of 35%-45% were dynamically observed from 0 h to 60 h. Images of the blood pools were recorded by digital camera. The area of blood pools was calculated by MATLAB R2014b, the length of cracks was measured by Image J and the statistical analysis was performed by SPSS 16.0. Results By summarizing and analyzing, the drying of blood pools was divided into five stages: coagulation (0-4.5 h), gelation (>4.5-20.0 h), gel-solid mixing (>20.0-37.0 h), solid (>37.0-40.0 h) and final desiccation (>40.0-45.0 h). From 0 to 45 h, the mass of the blood pools decreased linearly with time, and the decrease was not obvious from 45.0 to 60.0 h. The standardized mass (y2) showed strong correlation with the time (x) y2=0.018 2 x+0.271 4(R2=0.967 9). The area change rate of blood pools, the distance that the edge of blood pools moved, the average length of radical cracks had little correlation with the time that passed. Conclusion The overall morphological characteristics of blood pools show a certain regularity with the time and the standardized indexes established provide a reference for the age estimation of blood pools.


Asunto(s)
Coagulación Sanguínea , Humedad , Temperatura , Factores de Tiempo
9.
Zhonghua Yi Xue Za Zhi ; 99(44): 3466-3470, 2019 Nov 26.
Artículo en Chino | MEDLINE | ID: mdl-31826563

RESUMEN

Objective: To investigate the association of inducible co-stimulator (ICOS) and CD28 gene polymorphisms with pulmonary tuberculosis susceptibility. Methods: In this case-control study, from Mar 2015 to Sep 2016, peripheral venous blood of 100 pulmonary tuberculosis patients (pulmonary tuberculosis group) in the Jintan People's Hospital of Changzhou and 100 community physical examination volunteers (health control group) were collected. A total of 56 single nucleotide polymorphisms (SNP) in ICOS and CD28 sequences were selected and SNP genotype and allele frequency were analyzed using the next-generation sequencing technology. Association of these SNP with pulmonary tuberculosis susceptibility was investigated using linkage disequilibrium (LD) analysis and genetic models. Results: Among these 56 SNP, 23 SNP with Hardy-Weinberg equilibrium P (HWE-P) value<0.001 or minimum allele frequency<0.05 were kicked out. The frequencies of T allele and TT genotype of ICOS gene SNP locus (rs55663036), and GG genotype of CD28 gene locus (rs45620941) in tuberculosis group were significantly higher than those in healthy control group (all P<0.05). There was a strong linkage imbalance between rs45620941 at CD28 locus and rs56262258 (r(2)=0.757). Conclusion: The polymorphisms of rs55663036 of ICOS gene and rs45620941 of CD28 gene are significantly associated with the risk of pulmonary tuberculosis.


Asunto(s)
Antígenos CD28/genética , Proteína Coestimuladora de Linfocitos T Inducibles/genética , Polimorfismo de Nucleótido Simple , Tuberculosis Pulmonar , Alelos , Estudios de Casos y Controles , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Tuberculosis Pulmonar/genética
10.
Zhonghua Gan Zang Bing Za Zhi ; 26(7): 524-529, 2018 Jul 20.
Artículo en Chino | MEDLINE | ID: mdl-30317776

RESUMEN

Objective: To study the nutritional status and energy metabolic characteristics of patients with nonalcoholic fatty liver disease (NAFLD), and to provide evidence for clinical evaluation and intervention. Methods: A total of 359 NAFLD patients diagnosed on ultrasound from June 2015 to March 2017 were selected as study subjects and divided into mild, moderate to severe fatty liver disease group and 50 healthy subjects as control group. The changes of ICW, ECW, body fat, skeletal muscle, protein and visceral fat area (VFA) of patients and controls were analyzed by using body composition analyzer. The energy metabolism index was measured by the oxidation rate of resting energy expenditure(REE), respiratory quotient (RQ), and the oxidation rates of the three nutrients (CHO %, FAT %, and PRO %). According to different types of data, non-parametric tests like Kruskal-Wallis or χ(2) were used for this analysis. Results: Compared with the mild fatty liver group and the control group, the moderate and severe fatty liver group the BMI, waist circumference, waist-hip ratio were significantly elevated (P-value < 0.001), and their serum alanine aminotransferase, triglyceride, total cholesterol, high-density lipoprotein, low-density lipoprotein, FBS levels were significantly increased (P value < 0.05). The Body composition analysis showed that there was no significant difference in skeletal muscle content between the three groups (P = 0.067). The ICW, ECW, protein, body fat content of moderate and severe fatty liver group were significantly higher than those of mild fatty liver group and control group (P < 0.01), but there was no significant difference between the mild fatty liver group and the control group. There was significant difference in the VFA between the three groups, while VFA in the moderate and severe fatty liver group was significantly increased. Metabolic results showed that the RQ of patients with moderate-severe fatty liver and mild fatty liver were 0.72 ± 0.08 and 0.78 ± 0.06, respectively, which were lower than those of the control group (0.80 ± 0.02), P = 0.004. Resting energy expenditure (REE) was not significantly different between moderate and severe fatty liver group and mild fatty liver group (P = 0.207), but both were significantly higher than those of the control group (P < 0.001). The percentages of CHO, FAT and PRO in moderate and severe fatty liver group were 19.49% ± 9.71%, 66.23% ± 12.54% and 14.22% ± 6.11% respectively. Compared with the control group, CHO % decreased, and FAT % increased. Conclusion: NAFLD patients have different extent of nutritional imbalance and energy metabolism disorders, the use of Body Composition analyzer and metabolic cart can comprehensively assess and monitor NAFLD patient's nutrition and energy metabolism status, to provide a basis for clinical intervention.


Asunto(s)
Metabolismo Energético , Enfermedad del Hígado Graso no Alcohólico , Estado Nutricional , Índice de Masa Corporal , Humanos , Circunferencia de la Cintura
11.
Zhonghua Bing Li Xue Za Zhi ; 47(7): 536-541, 2018 Jul 08.
Artículo en Chino | MEDLINE | ID: mdl-29996320

RESUMEN

Objective: To investigate the clinicopathologic features, immunophenotype, pathological diagnosis and treatment of malignant mixed tumor (MMT). Methods: Clinical and pathological features including immunohistochemical phenotypes were analyzed in a case of MMT accompanied with eccrine porocarcinoma (EP) involving both hands, diagnosed definitely in January 2018 along with review of relevant literature. Results: A 64-year-old man presented with multiple rash on both hands for 4 years. Three lesions of 0.5 to 2.2 cm were removed for pathological evaluation. The pathological changes on little finger of left and right hands were MMT with EP, whereas that removed from the right ring finger was EP. MMT showed infiltrative growth with vascular wall invasion and consisted of epithelial (glandular or tube differentiation) and mesenchymal components (mucinous and/or cartilage stroma). The endothelial cells showed moderate to severe cytological atypia, nuclear pleomorphism and increased mitotic activity. The glandular component had histological characteristics of syringocarcinoma with moderately atypical chondrocytes but without myoepithelium. EP was composed of basal cells with visible vacuoles in cytoplasm and the presence of tubular and squamous differentiation, along with obvious atypia. Immunohistochemically cavosurface epithelium of glandular differentiation of MMT showed positivity for CK7, EMA and CD117. Myoepithelium showed S-100, CK5/6 and p63 positivity and stromal cells were positive for S-100. Differential diagnoses included metaplastic carcinoma, malignant myoepithelioma and atypical mixed tumor of skin. Conclusions: MMT with EP is extremely rare.The diagnosis of MMT depends on the morphologic features. Immunohistochemical staining is helpful for differential diagnosis. Surgical excision with safety margins is the treatment of choice. Complementary radiotherapy and/or chemotherapy is still controversial. The clinical course of MMT is deemed unpredictable and long-term follow-up is necessary.


Asunto(s)
Porocarcinoma Ecrino/patología , Tumor Mixto Maligno/patología , Neoplasias Cutáneas/patología , Neoplasias de las Glándulas Sudoríparas/patología , Diagnóstico Diferencial , Porocarcinoma Ecrino/química , Epitelio , Humanos , Inmunohistoquímica , Masculino , Persona de Mediana Edad , Tumor Mixto Maligno/química , Mioepitelioma/química , Mioepitelioma/patología , Proteínas Proto-Oncogénicas c-kit/análisis , Neoplasias Cutáneas/química , Neoplasias de las Glándulas Sudoríparas/química
12.
Trop Biomed ; 35(2): 408-412, 2018 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-33601814

RESUMEN

Sparganosis is a parasitic disease caused by plerocercoid larvae of the genus Spirometra. In China, the main source of sparganosis is from Guangdong, 16.1% of the country's human sparganosis cases occur in this province. Frequent international trade of amphibians and reptiles in Guangdong may introduce new species of Spirometra into the local market. In this study, a large-scale, high-intensity sampling survey was conducted to find out the causative species and epidemic situation of Sparganosis in Guangdong. The prevalence of sparganum infection in five species of frogs (Boulengerana guentheri, Fejervarya multistriata, Hoplobatrachus chinensis, Pelophylax nigromaculatus and Quasipaa spinosa) and nine species of snakes (Elaphe carinata, Lycodon rufozonatum, Hypsiscopus plumbea, Ptyas dhumnades, P. korros, P. mucosa, Naja atra, Sinonatrix annularis and Xenochrophis piscator) was investigated in Guangdong, Southern China from May 2014 to August 2015. The results showed that 9.8% (50/511) of the frogs and 40.8% (141/ 346) of snakes were found to be infected by plerocercoids (spargana). To identify the species of the collected spargana, a partial sequence of the mitochondrial cytochrome c oxidase subunit1 gene (cox1) was amplified and sequenced. Phylogenetic analysis identified all the spargana specimens as Spirometra erinaceieuropaei. Our study indicated that S. erinaceieuropaei, a highly pathogenic parasite, is the only causative agent of sparganosis in Guangdong, China. This study suggests that the large numbers of frogs and snakes in food markets in Guangdong may impact public health in China by transmitting S. erinaceieuropaei sparganum. Additional steps should be considered by the governments and public health agencies to prevent the risk of food-associated Spirometra infections in humans in China.

13.
Zhonghua Yi Xue Za Zhi ; 97(42): 3301-3305, 2017 Nov 14.
Artículo en Chino | MEDLINE | ID: mdl-29141374

RESUMEN

Objective: To investigate the association of programmed cell death 1(PD-1), T cell immunoglobulin mucin 3 (TIM-3) and triggering receptor expressed on myeloid cells-1 (TREM-1) genes polymorphisms with pulmonary tuberculosis susceptibility. Methods: In this case-control study, peripheral venous blood of 100 pulmonary tuberculosis patients (pulmonary tuberculosis group) in the Jintan People's Hospital of Changzhou and of community physical examination volunteers (health control group) was collected from Mar 2015 to Sep 2016. A total of 66 single nucleotide polymorphisms (SNP) in PD-1, TIM-3 and TREM1 sequences were selected and SNP genotype and allele frequency were analyzed using the next-generation sequencing technology. Association of these SNP with pulmonary tuberculosis susceptibility was investigated using linkage disequilibrium (LD) analysis and genetic models. Results: Among these 66 SNP, 24 SNP with Hardy-Weinberg equilibrium P (HWE-P) value <0.001 or minimum allele frequency (MAF) <0.05 were kicked out. The remaining 42 SNP were analyzed with LD analysis and genetic models. There was no significant difference in genotype frequencies between pulmonary tuberculosis group and health control group (all P>0.05). Five SNP (rs41435650, rs28539662, rs13023138, rs75565781, rs36084323) in PD-1 were identified in a significant haplotype (TACGC) between pulmonary tuberculosis group and health control group (P=0.014). Among these haplotypes, strong LD was observed between rs28539662 and rs75565781 (r(2)=0.871), as well as rs36084323 (r(2)=0.864). Rs75565781 showed highest correlation with rs36084323 (r(2)=0.966). Conclusion: These SNP in PD-1, TIM-3 and TREM-1 genes are not associated with the susceptibility of pulmonary tuberculosis.


Asunto(s)
Predisposición Genética a la Enfermedad , Receptor 2 Celular del Virus de la Hepatitis A/genética , Polimorfismo de Nucleótido Simple , Receptor de Muerte Celular Programada 1/genética , Receptor Activador Expresado en Células Mieloides 1/genética , Tuberculosis Pulmonar/genética , Alelos , Pueblo Asiatico , Estudios de Casos y Controles , Frecuencia de los Genes , Genotipo , Haplotipos , Humanos
14.
Zhonghua Fu Chan Ke Za Zhi ; 52(6): 374-378, 2017 Jun 25.
Artículo en Chino | MEDLINE | ID: mdl-28647959

RESUMEN

Objective: To analyze re-treatments of recurrence after the pelvic floor repair surgery. Methods: The protocol and the effect of re-treatments were investigated by reviewing and analyzing the clinical data of 81 recurrent patients (grade Ⅱ and above), who had received the pelvic floor repair surgery from January 2011 to January 2016. Pelvic organ prolapse quantitation system (POP-Q) and two questionnaires about quality of life [pelvic floor distress inventory-short form 20 (PFDI-20) and pelvic floor impact questionnaire short form (PFIQ-7)] were used to evaluate objective and subjective efficacy, respectively. Results: Among 81 recurrent patients who were followed up for a median of 35 months (10- 69 months), 78 cases (with prolapse up to grade Ⅲ or Ⅳ) were treated by surgical operation with both objective cure rate and subjective satisfaction being 100% (78/78); 3 cases (with grade Ⅱ prolapse) were treated by pelvic floor electrical stimulation biofeedback, and 1 case among the three cases had the vaginal foreign body sensation, the subjective satisfaction was 2/3. The methods of surgical operation for the 78 recurrent patients included: total pelvic floor reconstructive surgery (55 cases; 3 of which involve trachelectomy), anterior pelvic reconstructive surgery (2 cases), posterior pelvic reconstructive surgery (3 cases), Y-mesh sacral colpopexy (2 cases), colpocleisis (11 cases), vaginal hysterectomy combined posterior fornix forming (3 cases), and vaginal hysterectomy combined posterior pelvic reconstructive surgery(2 cases). Conclusion: The extent of recurrence, the recurrent site and complications must be carefully considered and evaluated for re-treatments of recurrence after pelvic floor repair surgery, and then an appropriately individualized re-treatment protocol could be designed for each of the patients.


Asunto(s)
Procedimientos Quirúrgicos Ginecológicos/métodos , Diafragma Pélvico/cirugía , Prolapso de Órgano Pélvico/cirugía , Procedimientos de Cirugía Plástica , Calidad de Vida , Anciano , Femenino , Estudios de Seguimiento , Procedimientos Quirúrgicos Ginecológicos/efectos adversos , Humanos , Histerectomía Vaginal/métodos , Persona de Mediana Edad , Complicaciones Posoperatorias/epidemiología , Recurrencia , Sacro , Índice de Severidad de la Enfermedad , Mallas Quirúrgicas , Encuestas y Cuestionarios , Resultado del Tratamiento , Vagina
15.
Lupus ; 26(12): 1309-1317, 2017 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-28403670

RESUMEN

Objective Genetic variants in FH (complement factor H) were reported to associate with susceptibility to systemic lupus erythematosus (SLE). This study proposed that the genetic defects of FH in the susceptibility and in the development of lupus nephritis might be different. Methods This study enrolled 334 lupus nephritis patients, 269 SLE patients without clinical renal involvement and 350 controls. Two-step genotyping was performed. First, all the exons of the FH gene were fully sequenced in 100 lupus nephritis patients and 100 healthy controls. Second, genotyping of three common variants reported to be functional, rs1061170, rs800292 and rs6677604, was conducted in all the recruited individuals. Further, analysis of their associations with SLE/lupus nephritis susceptibility and the clinico-pathological parameters in the lupus nephritis group was performed. Results No significant differences were observed in allele and genotype frequencies of the three single nucleotide polymorphisms between lupus patients and controls. There was a significantly higher ratio of CC/CT genotypes of rs1061170 in lupus nephritis patients with class III than in the other two classes (class III vs. class IV vs. class V: 21.0% vs. 9.7% vs. 9.4%; P = .044). The rs6677604-GG genotype was observed to be associated with the absence of anti-ds DNA antibody ( P = .021), and the rs800292-TT genotype was associated with a higher level of circulating C3 ( P = 0.20) in lupus nephritis. Conclusion In an independent cohort, this is the first genetic association analysis focusing on FH genetic variants in Chinese lupus nephritis patients. It was found that the variants in the FH gene might affect the histopathologic subtypes and some clinical features of the disease.


Asunto(s)
Predisposición Genética a la Enfermedad , Lupus Eritematoso Sistémico/complicaciones , Nefritis Lúpica/genética , Adolescente , Adulto , Pueblo Asiatico/genética , Estudios de Casos y Controles , China , Estudios de Cohortes , Factor H de Complemento/genética , Femenino , Frecuencia de los Genes , Variación Genética , Genotipo , Humanos , Lupus Eritematoso Sistémico/genética , Nefritis Lúpica/patología , Masculino , Polimorfismo de Nucleótido Simple , Adulto Joven
17.
Artículo en Chino | MEDLINE | ID: mdl-27682491

RESUMEN

Objective: To investigate the hospital costs and related influencing factors in patients with acute poisoning. Methods: A retrospective analysis was performed for the general status and hospital costs of 373 patients with acute poisoning who were admitted to The Second Affiliated Hospital of Wenzhou Medical College from January 2009 to March 2015. The questionnaires were completed, the data were entered into Excel forms, and SPSS 18.0 was used to perform statistical analysis. Results: Among the 373 patients, 44.8% committed suicide and 31.1% were poisoned by accidental contact; 42.6% were poisoned by pesticides, and 32.7% were poisoned by drugs. After treatment, 64.1% achieved improvements, whereas 1.3% died. The highest hospital cost reached 62 710.26 RMB, and the lowest was 64.64 RMB (median 4 328 RMB) . The patients with an older age and a longer length of hospital stay tended to have higher hospital costs; the patients who underwent catharsis, mechanical ventilation, and blood purification and were admitted to the intensive care unit had relatively high hospital costs. Conclusion: The patients with acute poisoning have high hospital costs. Poisoning caused by pesticides and drugs should be prevented and treated with priority, so as to reduce the heavy economic burden caused by acute poisoning.


Asunto(s)
Costos de Hospital/estadística & datos numéricos , Intoxicación/economía , China , Humanos , Unidades de Cuidados Intensivos , Tiempo de Internación , Plaguicidas , Intoxicación/terapia , Respiración Artificial , Estudios Retrospectivos , Suicidio
19.
Lupus ; 25(12): 1328-40, 2016 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-27068115

RESUMEN

OBJECTIVE: Our previous study showed that plasma levels of factor H (FH) were significantly decreased in patients with lupus nephritis and reflected lupus nephritis activity. The aim of this study was to further investigate in vitro biofunctions of plasma FH in patients with lupus nephritis. METHODS: FH was purified from the first run of plasma exchange in four active lupus nephritis patients and two non-renal involvement systemic lupus erythematosus (SLE) patients, and plasma from two healthy controls. Then, the biofunctions of the purified FH were analyzed. In addition, FH exons sequencing analysis was performed. RESULTS: Homogeneous FH was purified from the plasma fractions and the purity of the purified FH was comparable to the commercial FH. The abilities of FH binding with C3b and mCRP, and its protecting abilities from the lysis of sheep erythrocytes, from No. 3 and No. 4 lupus nephritis patients, decreased significantly compared with those in normal controls. The purified FH from lupus nephritis patients Nos. 2-4 could not induce the phagocytosis of late apoptotic cells significantly compared with normal controls. All four lupus nephritis patients had the known SNP rs1061147 (SCR5, A307A), rs1061170 (SCR7, Y402H), CM050194 (SCR20, S1191W) and CM010322 (SCR20, V1197A), which might be associated with the above dysfunctions. CONCLUSIONS: Dysfunctions of FH, including the regulations of complement alternative pathway and the clearance of apoptotic cells, were found in some active lupus nephritis patients, which were associated with their clinical phenotypes. The FH SNPs might contribute to the dysfunctions of FH in patients with lupus nephritis.


Asunto(s)
Lupus Eritematoso Sistémico/genética , Lupus Eritematoso Sistémico/metabolismo , Nefritis Lúpica/metabolismo , Adolescente , Adulto , Proteína C-Reactiva/inmunología , Proteína C-Reactiva/metabolismo , Línea Celular , Complemento C3b/inmunología , Complemento C3b/metabolismo , Factor H de Complemento/genética , Factor H de Complemento/inmunología , Factor H de Complemento/metabolismo , Femenino , Pruebas Genéticas , Humanos , Células Jurkat , Lupus Eritematoso Sistémico/inmunología , Nefritis Lúpica/genética , Nefritis Lúpica/inmunología , Fagocitosis , Polimorfismo de Nucleótido Simple , Análisis de Secuencia de ADN , Adulto Joven
20.
Sci Rep ; 6: 19326, 2016 Jan 13.
Artículo en Inglés | MEDLINE | ID: mdl-26759077

RESUMEN

Previous studies have revealed that wearers had low skin temperatures and cold and pain sensations in the feet, when using sleeping bags under defined comfort and limit temperatures. To improve wearers' local thermal comfort in the feet, a novel heating sleeping bag (i.e., MARHT) was developed by embedding two heating pads into the traditional sleeping bag (i.e., MARCON) in this region. Seven female and seven male volunteers underwent two tests on different days. Each test lasted for three hours and was performed in a climate chamber with a setting temperature deduced from EN 13537 (2012) (for females: comfort temperature of -0.4 °C, and for males: the limit temperature of -6.4 °C). MARHT was found to be effective in maintaining the toe and feet temperatures within the thermoneutral range for both sex groups compared to the linearly decreased temperatures in MARCON during the 3-hour exposure. In addition, wearing MARHT elevated the toe blood flow significantly for most females and all males. Thermal and comfort sensations showed a large improvement in feet and a small to moderate improvement in the whole body for both sex groups in MARHT. It was concluded that MARHT is effective in improving local thermal comfort in the feet.


Asunto(s)
Pie , Calefacción , Temperatura Cutánea , Textiles , Metabolismo Basal , Regulación de la Temperatura Corporal , Femenino , Frecuencia Cardíaca , Humanos , Masculino , Percepción , Flujo Sanguíneo Regional , Sensación
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