RESUMEN
Juvenile polyps(JP),also known as retention polyps,are the most common type of colorectal polyps and the main cause of lower gastrointestinal bleeding in children,with rare incidence in adults.In recent years,with the development and application of electronic colonoscopy,the detection rate of colorectal JP has gradually increased.It is generally accepted that JP is a benign hamartomatous lesion of the intestine,while it can cause complications such as massive hemorrhage of the lower digestive tract,anemia,intussusception,and intestinal obstruction.Moreover,there are reports about the canceration of JP.Therefore,it is necessary to improve the understanding and achieve early diagnosis and treatment of this disease.This article reviews the research progress in the epidemiological characteristics,pathogenesis,clinical manifestations,diagnosis and treatment methods,and canceration risk of JP.
Asunto(s)
Niño , Adulto , Humanos , Colonoscopía/efectos adversos , Neoplasias del Recto , Hemorragia GastrointestinalRESUMEN
Objective: To analyze the phenotype and genotype of two pedigrees with inherited fibrinogen (Fg) deficiency caused by two heterozygous mutations. We also preliminarily probed the molecular pathogenesis. Methods: The prothrombin time (PT), activated partial thromboplastin time (APTT), thrombin time (TT) and plasma fibrinogen activity (Fg∶C) of all family members (nine people across three generations and three people across two generations) were measured by the clotting method. Fibrinogen antigen (Fg:Ag) was measured by immunoturbidimetry. Direct DNA sequencing was performed to analyze all exons, flanking sequences, and mutated sites of FGA, FGB, and FGG for all members. Thrombin-catalyzed fibrinogen polymerization was performed. ClustalX 2.1 software was used to analyze the conservatism of the mutated sites. MutationTaster, PolyPhen-2, PROVEAN, SIFT, and LRT online bioinformatics software were applied to predict pathogenicity. Swiss PDB Viewer 4.0.1 was used to analyze the changes in protein spatial structure and molecular forces before and after mutation. Results: The Fg∶C of two probands decreased (1.28 g/L and 0.98 g/L, respectively). The Fg∶Ag of proband 1 was in the normal range of 2.20 g/L, while it was decreased to 1.01 g/L in proband 2. Through genetic analysis, we identified a heterozygous missense mutation (c.293C>A; p.BβAla98Asp) in exon 2 of proband 1 and a heterozygous nonsense mutation (c.1418C>G; p.BβSer473*) in exon 8 of proband 2. The conservatism analysis revealed that Ala98 and Ser473 presented different conservative states among homologous species. Online bioinformatics software predicted that p.BβAla98Asp and p.BβSer473* were pathogenic. Protein models demonstrated that the p.BβAla98Asp mutation influenced hydrogen bonds between amino acids, and the p.BβSer473* mutation resulted in protein truncation. Conclusion: The dysfibrinogenemia of proband 1 and the hypofibrinogenemia of proband 2 appeared to be related to the p.BβAla98Asp heterozygous missense mutation and the p.BβSer473* heterozygous nonsense mutation, respectively. This is the first ever report of these mutations.
Asunto(s)
Humanos , Afibrinogenemia/genética , Codón sin Sentido , Linaje , Fenotipo , Fibrinógeno/genética , GenotipoRESUMEN
Objective: To investigate the molecular pathogenesis and clinical features of unrelated 12 patients with inherited coagulation protein C (PC) deficiency in Chinese population. Methods: The PC activity (PC:A) and PC antigen (PC:Ag) were detected by chromogenic substrate and enzyme linked immunosorbent assay, respectively. The nine exons and flanking sequences of the protein C (PROC) gene were amplified by polymerase chain reaction with direct sequencing, and the suspected mutations were validated by reverse sequencing (clone sequencing for deletion mutations) . Results: The PC:A of the 12 probands decreased significantly, ranging from 18% to 55%, and the PC:Ag of the 10 probands decreased significantly. Eleven mutations were found, out of which four mutations [c.383G>A (p.Gly128Asp) , c.997G>A (p.Ala291Thr) , c.1318C>T (p.Arg398Cys) , and c.532G>C (p.Leu278Pro) ] were discovered for the first time. Six mutations were in the serine protease domain, four mutations were located in epidermal growth factor (EGF) -like domains, and one mutation was located in activation peptide. There were two deletion mutations (p.Met364Trp fsX15 and p.Lys192del) , and the rest were missense mutations. Mutations p.Phe181Val and p.Arg189Trp were identified in three unrelated families. All mutations may be inherited, and consanguineous marriages were reported in two families. Among the probands, nine cases had venous thrombosis, two cases had poor pregnancy manifestations, and one case had purpura. Conclusion: Patients with PC deficiency caused by PROC gene defects are prone to venous thrombosis, especially when there are other thrombotic factors present at the same time.
Asunto(s)
Humanos , Mutación , Mutación Missense , Linaje , Fenotipo , Proteína C/genética , Deficiencia de Proteína C/genéticaRESUMEN
BACKGROUND@#Shenque (CV8) acupoint is located on the navel and has been therapeutically used for more than 2000 years in Traditional Chinese Medicine (TCM). However, clinical research on the underlying therapeutic molecular mechanisms of the CV8 acupoint lags far behind. This study aimed to study the mechanisms of umbilical acupoint therapy by using stem cells.@*METHODS@#The morphological characteristics of CV8 acupoint were detected under a stereomicroscope using hematoxylin and eosin (H&E) staining. Oil Red, Masson, and immunohistochemical staining on multi-layered slices were used to identify the type of cells at the CV8 acupoint. Cell proliferation was measured by a cell counting kit-8 (CCK-8) method. Flow cytometry and immunohistochemistry were used for cell identification. Induced differentiation was used to compare the differentiation of cells derived from CV8 acupoint and non-acupoint somatic stem cells into other cell types, such as osteogenic, adipogenic, and neural stem cell-like cells.@*RESULTS@#Morphological observations showed that adipose tissues at the linea alba of the CV8 acupoint in mice had a mass-like distribution. Immunohistochemical staining confirmed the distribution of stem cell antigen-1 (Sca-1) positive cells in the multi-layered slices of CV8 acupoint tissues. Cells isolated from adipose tissues at the CV8 acupoint exhibited high expression of Sca-1 and CD44 and low expression of CD31 and CD34, and these cells possessed osteogenic, adipogenic, and neurogenic stem cell-like cell differentiation ability. The cell proliferation (day 4: 0.5138 ± 0.0111 vs. 0.4107 ± 0.0180, t = 8.447, P = 0.0011; day 5: 0.6890 ± 0.0070 vs. 0.5520 ± 0.0118, t = 17.310, P 100 μm: 2.6000 ± 0.5477 vs. 0.8000 ± 0.8367, t = 4.025, P = 0.0038) were significantly enhanced in somatic stem cells derived from the CV8 acupoint compared to somatic stem cells from the groin non-acupoint. However, cells possessed significantly weaker osteogenicity ([2.697 ± 0.627]% vs. [7.254 ± 0.958]%, t = 6.893, P = 0.0023) in the CV8 acupoint group.@*CONCLUSIONS@#Our study showed that CV8 acupoint was rich with adipose tissues that contained abundant somatic stem cells. The biological examination of somatic stem cells derived from the CV8 acupoint provided novel insights for future research on the mechanisms of umbilical therapy.
Asunto(s)
Animales , Ratones , Puntos de Acupuntura , Tejido Adiposo , Células Madre Adultas , Diferenciación Celular , Células Cultivadas , OsteogénesisRESUMEN
Objective: To establish a method for the determination of 13 active components (phellodendrine, chlorogenic acid, magnoflorine, geniposide, coptisine, epiberberine, jatrorrhizine, berberine, palmatine, baicalin, wogonoside, wogonin, and oroxylin A) in Huanglian Jiedu Decoction (HJD) by HPLC, and screen the effective fractions of HJD by the content and ratio of active components. Methods: The freeze-dried powder of HJD water decoction was extracted by petroleum ether, ethyl acetate, n-butanol and pure water by soxhlet extractor combined system solvent extraction method. The different polar fractions of HJD were obtained after drying, and the residue was used as the precipitation fraction. Subsequently, 13 active ingredients in HJD were detected by Agilent 1260 high performance liquid chromatography. Furthermore, the content of active components in HJD and its different polar fractions were detected, and the effective fraction of HJD were screened. Results: A stable and reliable HPLC method was successfully established, and the content of active components in HJD from high to low were: geniposide, berberine, palmatine, baicalin, wogonoside, coptisine, jatrorrhizine, epiberberine, magnoflorine, phellodendrine, wogonin, chlorogenic acid, and oroxylin A. Compared with the fractions of petroleum ether, ethyl acetate, purified water, and precipitation, the total content of active components in the fraction of n-butanol of HJD was the highest and its proportion is the closest to that of HJD, which was the effective fraction of HJD. Conclusion: In this study, a method for the determination of 13 active ingredients in HJD by HPLC was successfully established, and the n-butanol fraction of HJD was selected as the effective fraction of HJD based on the content of active components.
RESUMEN
<p><b>OBJECTIVE</b>To investigate the effect of premature rupture of the membrane (PROM) on neonatal complications in premature infants.</p><p><b>METHODS</b>The registration information of 7684 preterm infants with gestational age <37 weeks were collected from the cooperative units in the task group between January 1, 2014 to December 31, 2014. Specially trained personnel from each cooperative units filled in the unified form in a standardized format to record the gender, gestational age, birth weight, PROM, placental abruption, antenatal corticosteroid, Apgar score, amniotic fluid pollution, and complications of the infants. The data were analyzed comparatively between the cases with PROM and those without (control).</p><p><b>RESULTS</b>The preterm mortality rate was significantly lower but the incidences of ICH, NEC, ROP and BPD were significantly higher in PROM group than in the control group (P<0.05). The 95% confidence interval of the OR value was <1 for mortality, and was >1 for ICH, NEC, ROP and BPD. After adjustment for gestational age, birth weight, gender, mode of delivery, placental abruption, placenta previa, prenatal hormones, gestational diabetes mellitus (GDM), gestational period hypertension and 5-min Apgar score <7, the incidences of NEC, ROP and BPD were significantly different between the two groups (P<0.05) with 95% confidence interval of OR value >1, but the mortality rate and incidence of ICH were not significantly different between the two groups (P>0.05).</p><p><b>CONCLUSION</b>PROM is a risk factor for NEC, ROP and BPD in preterm infants, and adequate intervention of PROM can reduce the incidences of such complications as NEC, ROP and BPD in the infants.</p>
Asunto(s)
Femenino , Humanos , Recién Nacido , Embarazo , Puntaje de Apgar , Peso al Nacer , Rotura Prematura de Membranas Fetales , Patología , Edad Gestacional , Incidencia , Enfermedades del Recién Nacido , Recien Nacido Prematuro , Factores de RiesgoRESUMEN
<p><b>OBJECTIVE</b>To screen potential mutation and explore the underlying mechanism for a consanguineous pedigree featuring hereditary coagulation factor Ⅴ (FⅤ) deficiency.</p><p><b>METHODS</b>Clinical diagnosis was validated by coagulant parameter assays of prothrombin time (PT), activated partial thromboplastin time (APTT), fibrinogen (FIB), FⅤ procoagulant activity (FⅤ:C) and FⅤ antigen (FⅤ:Ag). Potential mutations of the F5 gene in the proband and his family members were analyzed by direct DNA sequencing of PCR products of all exons, exon-intron boundaries and 3', 5' untranslated regions. Suspected mutation was confirmed by reverse sequencing.</p><p><b>RESULTS</b>The PT and APTT in the proband were significantly prolonged, which measured 23.5 s (reference range 11.8-14.8 s) and 50.5 s (reference range 27.0-41.0 s), respectively. FⅤ activity and FⅤ antigen of the proband were significantly reduced to 8% and <1%, respectively. PT and APTT in the younger sister of the proband were also significantly prolonged (24.1 s and 62.4 s, respectively). Her FⅤ activity and FⅤ antigen were also significantly decreased (7% and <1%, respectively). PT and APTT of other family members were within the normal range. The homozygous missence mutation causing T→C transition at position 29170 in exon 5 of F5 gene has resulted in a Phe190Ser substitution in the proband. His younger sister was also homozygous for Phe190Ser. Heterozygosity for Phe190Ser was confirmed in his elder brother, elder sister, two daughters and niece, and their FⅤ activity were slightly decreased (57%, 73%, 72%, 66% and 75%, respectively). A normal wild type was observed in two younger brothers of the proband, and their FⅤ activity and FⅤ antigen were in the normal range.</p><p><b>CONCLUSION</b>Homozygous missence mutation of Phe190Ser has been found in above family featuring hereditary FⅤ deficiency. The homozygous missence mutation was inherited from the parents by consanguineous marriage. Phe190Ser probably underlies may underlie the pathogenesis of hereditary FⅤ deficiency in this pedigree.</p>
Asunto(s)
Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Consanguinidad , Factor V , Genética , Deficiencia del Factor V , Sangre , Genética , Mutación Missense , Tiempo de Tromboplastina Parcial , Linaje , Tiempo de Protrombina , Análisis de Secuencia de ADNRESUMEN
<p><b>OBJECTIVE</b>To analyze genetic mutation and explore its molecular pathogenesis for an hereditary protein C (PC) deficient consanguineous pedigree.</p><p><b>METHODS</b>The pedigree included three generations and contained eight members. PC activity (PC:A), PC antigen (PC:Ag) and other coagulant parameters were detected for all family members. Protein C gene (PROC) include all the exons and intron exon boundaries were amplified by PCR for the proband, then analyzed by direct sequencing. Mutation sites were detected for the other family members.</p><p><b>RESULTS</b>The PC:A and PC:Ag in the proband plasma were 20% (normal range 70% -140%) and 13.2% (normal range 70%-130%). A homozygous missense mutation g.6128T>G in exon 7 resulting in Phe139Val was identified in the proband. The PC:A and PC:Ag in her younger brother were 31% and 18.90%, Phe139Val homozygous was also found. The left family members were heterozygous for Phe139Val.</p><p><b>CONCLUSION</b>Phe139Val homozygous missense mutation in exon 7 of PROC caused serious hereditary protein C deficiency. We speculated that homozygous mutation might be resulted from this consanguineous marriage.</p>
Asunto(s)
Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Consanguinidad , Homocigoto , Mutación , Linaje , Proteína C , Genética , Deficiencia de Proteína C , GenéticaRESUMEN
<p><b>OBJECTIVE</b>To identify the genotype and pathogenesis in four Chinese pedigrees with Factor Ⅻ deficiency.</p><p><b>METHODS</b>Activated partial thromboplastin time (APTT), FⅫ procoagulant activity (FⅫ∶C), FⅫ antigen(FⅫ∶Ag)and other coagulant parameters were detected. The FⅫ deficiency Pedigree members,all exons,boundary introns including the splice junctions of the FⅫ gene were amplified with Polymerase chain reaction (PCR). Expression plasmids were constructed by mutagenesis based on the wild-type and transfected into COS7 cells. FⅫ∶C and FⅫ∶Ag of the expression levels were tested in the supernatant and cell lysate.</p><p><b>RESULTS</b>The four probands presented prolonged APTT with all the values of FⅫ∶C and FⅫ∶Ag were low to 2% and 1%, respectively. There were common 46C/T polymorphism in the promoter regions of FⅫ gene in four pedigrees. Proband A was heterozygous for two mutations, g.5741-5742delCA (His101Gln) and g.7142insertC (Lys346Gln). Proband B was a heterozygous deletion mutation g.6800-6808del9bp. The results of the transfection revealed that FⅫ∶Ag in cell lysates and conditioned media protein FⅫ6800-6808del9bp were 85.6% and 51.9%. The FⅫ∶C in the conditioned media was 56.4%. Proband C was a heterozygous mutation g.8699G>A(Gly542Ser). Proband D was a homozygous mutation 8699G>A, whose parents with consanguineous marriage.</p><p><b>CONCLUSION</b>Four mutations, g.5741-5742delCA, g.7142insertC, g.6800-6808del9bp and g.8699G>A with 46C/T polymorphism in the promoter regions of FⅫ gene, were identified in the four Factor Ⅻ deficiency pedigrees. The two mutations g.5741-5742delCA and g.6800-6808del9bp were first found in China. FⅫ 6800-6808del9bp expressed in vitro suggested that almost normal proteinum synthesis but defect proteinum secretion.</p>
Asunto(s)
Adulto , Anciano , Femenino , Humanos , Lactante , Masculino , Análisis Mutacional de ADN , Factor XII , Genética , Deficiencia del Factor XII , Genética , Mutación , Linaje , Polimorfismo GenéticoRESUMEN
<p><b>OBJECTIVE</b>The demographic characteristics of acupuncture outpatient in China is investigated so as to provide clinical evidence for the establishment of acupuncture indication.</p><p><b>METHODS</b>Clinical epidemiological table was adopted to do cluster multistage random sampling in 36 hospitals of 31 provinces (municipalities and autonomous regions) in 2008. The composition ratios of all indices were analyzed with SPSS 13.0 software. And trend analysis was carried out on the patient's demographic characteristics and the age distribution of clinical indications.</p><p><b>RESULTS</b>In the year 2008, 31 858 cases of out patients from 36 hospitals of 6 administrative regions were collected. There were totally 14 411 male patients (45.2%) and 17 447 (54.8%) female. The gender ratio of male and female was 82: 100. The average age of the patients was (50.6 +/- 17.7) years old. The number of patients over 45 years old was more obvious than groups of other ages (P<0.05). Age differences can be found in those 6 regions (P<0.05). Clinical symptoms varied according to different ages of the patients. Different characteristics of age distribution of acupuncture indications were held to exist (P=0.000).</p><p><b>CONCLUSION</b>At the present, differences of gender, age and region can be found in out patients of acupuncture clinic. And the result shows that the number of female patients is more than male, with a large proportion of patients over 45 years old. Differences of age distribution characteristics of acupuncture indications still exist, which is considered to have the relation with the dominate indications of acupuncture and aging of the population.</p>
Asunto(s)
Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Persona de Mediana Edad , Adulto Joven , Terapia por Acupuntura , China , Demografía , Pacientes AmbulatoriosRESUMEN
Chronic kidney disease (CKD) has become a worldwide health and social problem. Retarding its progression to end-stage renal disease is beneficial both to the patients and the healthcare system. Plenty of clinical trials have indicated that enema with Chinese medicine could effectively prevent chronic renal failure, and was widely used in the clinical practice. However, studies on mechanism were still nearly blank, which may prevent further improvement of therapeutic efficacy. Recent studies had discovered that colon was an important organ where uremic toxins were generated. The uremic toxins involved could not only promote CKD progression, but also was closely correlated with CKD mortality. Reducing production and promoting excretion of toxins were confirmed to reduce renal tubule interstitial fibrosis and delay renal progression. On the basis of the theory of gut-kidney axis above, we had conducted pilot clinical researches to evaluate the effect of enema with Chinese medicine on the intestinal flora, gut barrier, enterogenous uremic toxins and renal protection. The preliminary results revealed that rheum enema through colon could accelerate intestinal dynamics, improve intestinal barrier function, regulate intestinal flora and reduce production and absorption of intestine-derived uremic toxins such as indoxyl sulfate, which may reduce renal fibrosis and delay renal progression. Further studies could provide more evidence for colon as a new therapeutic target for the treatment of CKD with Chinese medicine.
Asunto(s)
Humanos , Colon , Medicamentos Herbarios Chinos , Farmacología , Usos Terapéuticos , Enema , Riñón , Patología , Insuficiencia Renal Crónica , Quimioterapia , Patología , Resultado del TratamientoRESUMEN
The compounds of Ainsliaea yunnanensis were isolated and purified by various kinds of column chromatography methods and their structures were determined by spectroscopic data analysis. Twelve compounds were obtained from the petroleum ether of ethanolic extract of A. yunnanensis and elucidated as bauerenyl acetate (1), bauerenol (2), alpha-amyrin (3), psi-taraxasterol (4), beta-amyrin (5), echinocystic acid (6), multiflorenol (7), 3beta-hydroxy-olean-18-ene germanicol (8), 3beta-hexadecanoyl-12-oleanen-11-one (9), fernenol (10), fern-7-en-3beta-ol (11), and lupeol (12). All compounds were isolated from this genus for the first time except compound 1, 3, 5 and 10, and they were all isolated from this plant for the first time.
Asunto(s)
Asteraceae , Química , Medicamentos Herbarios Chinos , Química , Estructura Molecular , Espectrometría de Masa por Ionización de Electrospray , Triterpenos , QuímicaRESUMEN
<p><b>OBJECTIVE</b>To analyze genetic mutations and explore its molecular pathogenesis for an hereditary protein C (PC) deficiency pedigree.</p><p><b>METHODS</b>The pedigree has included 15 individuals from 4 generations. Plasma levels of PC activity (PC:A), PC antigen (PC:Ag) and other coagulant parameters were determined for members of the family. The 9 exons and intron-exon boundaries of protein C gene (PROC) of the proband were amplified with PCR and analyzed with direct sequencing. Detected mutations were confirmed with reverse sequencing. Corresponding PCR fragments from the family members were also directly sequenced.</p><p><b>RESULTS</b>Plasma PC:A and PC:Ag for the proband was 26% and 18.60%, respectively, both being lower than normal references. Seven members from the pedigree also had lower PC:A, six had lower PC:Ag. A compound heterozygous missense mutation, including a T to G transition at position 6128 of exon 7, which results in Phe139Val, and a G to C transition at position 8478 in exon 9, which results in Asp255His, were identified in the proband. The paternal grandma, father and two aunts were heterozygous for g.6128 T to G, whilst the mother, the second uncle, sister and son were heterozygous for g.8478 G to C. There were lower PC:A in family members with g.8478 G to C.</p><p><b>CONCLUSION</b>The proband had inherited two independent mutations of the PROC gene including g.6128 T to G in exon 7 and g.8478 G to C in exon 9 from her father and mother, respectively. The resulting compound heterozygous mutation has caused a serious hereditary protein C deficiency.</p>
Asunto(s)
Humanos , Mutación , Linaje , Proteína C , Genética , Deficiencia de Proteína C , GenéticaRESUMEN
The quality of some earlier developed antibiotics is usually ensured by the combination of HPLC purity and microbiological potency measurement in the pharmacopoeias of various countries because the relationship between their purity and potency is not clearly quantified. Due to potency is assessed using certain units of measurement, it can not be directly traced to the international system of units (SI unit). This has become a hotspot in the study of the quantitative relationship between purity and potency of antibiotics. It would be quite an achievement to simultaneously determine both purity and potency using HPLC methods during quality control. This study evaluated a multicomponent antibiotic product, gentamycin, as a test sample. First, pure samples of the C components of gentamycin: C1a, C2, C2a and C1 were prepared, separately. Second, quantitative relationship (theoretical potency) between the purity and potency of each C component of gentamycin were determined using 1H NMR, HPLC-ELSD and microbiological assay method. One milligram of gentamycin C1a, C2, C2a and C1 was equal to 1 286.98, 1 095.74, 1 079.52 and 739.61 gentamycin units, respectively. Finally, a method for the determination of gentamycin potency was established based on the proportion and content of C components of gentamycin. The unification of purity and potency for gentamycin was achieved using only HPLC-ELSD. It is also demonstrated that C components of gentamycin and micronomicin produce the same responses under ELSD, which means that it is not necessary to prepare separate reference standards for each C component of gentamycin and that quantitative testing can be performed accurately using only one micronomicin reference standard. This study simplified the previous method for the determination of the content of C components of gentamycin using HPLC-ELSD. The developed method is suitable for regular use as a part of quality control and can simplify the rigmarole quality control procedures provided in current pharmacopeias.
Asunto(s)
Cromatografía Líquida de Alta Presión , Gentamicinas , Química , Farmacología , Espectroscopía de Resonancia Magnética , Pruebas de Sensibilidad Microbiana , Métodos , Estructura Molecular , Control de Calidad , Estándares de ReferenciaRESUMEN
<p><b>OBJECTIVE</b>To investigate the gene mutation and the molecular pathogenesis of an inherited coagulation factor VII (F VII) deficiency pedigree with consanguineous marriage.</p><p><b>METHODS</b>The diagnosis was validated by coagulant parameter assay on the prothrombin time (PT), activated partial thromboplastin time, fibrinogen and coagulation factor activity. F VII gene mutations were analyzed in the proband and other family members by direct DNA sequencing of the PCR products of all exons, exon-intron boundaries and 5'and 3' untranslated sequences. The mutations were confirmed by reverse sequencing.</p><p><b>RESULTS</b>The values of PT and F VII activity in the proband were significantly abnormal, they were 30.9 s and 3% respectively. The PT of her daughter, father and mother was slightly extended to 21.2 s, 16.3 s and 16.1 s respectively, and the F VII activity was reduced to 22%, 25% and 35% respectively. The coagulant parameters of her younger brother were within normal range. Homozygous T-->G transition at position 11482 in exon 8 was identified in the proband resulting in His348Gln, and heterozygosity for His348Gln was confirmed in her daughter and her parents, and the normal wild-type was observed in her younger brother.</p><p><b>CONCLUSION</b>Homozygous missense mutation of His348Gln was found in a pedigree of hereditary F VII deficiency. The mutation was inherited from her heterozygote parents.</p>
Asunto(s)
Adolescente , Adulto , Anciano , Femenino , Humanos , Recién Nacido , Masculino , Persona de Mediana Edad , Factor VII , Genética , Deficiencia del Factor VII , Genética , Homocigoto , Mutación Missense , LinajeRESUMEN
<p><b>OBJECTIVE</b>To investigate the effects of transjugular intrahepatic portosystemic stent-shunt (TIPS) in emergency treatment of esophagogastric varices bleeding for the cirrhosis patients.</p><p><b>METHODS</b>39 cases with esophageal and gastric varices bleeding due to liver cirrhosis received TIPS and were followed-up for 1 to 12 months, the short-term effects including 24 hours haemostasis rates post TIPS, pressure gradient between portal vein and systemic circulation, average pressure of portal vein were observed. The levels of albumin, cholinesterase, total bilirubin and prothrombin time post TIPS were also evaluated were observed and evaluated.</p><p><b>RESULTS</b>37 cases received TIPS successfully among the 39 patients, with a total effective rate of 94.87% (37/39) and the rate of hemostasis in 24 hours was 100%. PSG dropped from (30.44+/-7.68) cm H2O to (18.78+/-4.71) cm H2O, mean portal pressure declined from (38.22+/-7.40) cm H2O to (27.00+/-5.38) cm H2O (P is less than 0.01). No significant differences existed at the level of albumin(A) and cholinesterase (CHE) before and after operation (P is more than 0.05). The relapse rate of frame stenosis was 5.71% (2/35). The incidence rate of hepatic encephalopathy was 13.51% (5/37). The relapse rate of rehaemorrhagia was 2.86% (1/35). The incidence rate of hepatic failure was 2.70% (1/37). The death rate was 5.71% (2/35).</p><p><b>CONCLUSION</b>The effect of TIPS in treating portal hypertension caused by liver cirrhosis is prominent and safe, and is worthy of clinical application.</p>
Asunto(s)
Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Várices Esofágicas y Gástricas , Cirugía General , Hemorragia Gastrointestinal , Cirugía General , Hipertensión Portal , Cirugía General , Cirrosis Hepática , Cirugía General , Derivación Portosistémica Intrahepática Transyugular , MétodosRESUMEN
The biological and genetic characteristics of a highly neurovirulent JE virus strain SA4 were studied. Mice were inoculated intracerebrally with strain SA4 and SA14, and observed for 14 days, respectively. On different days, mice brains were harvested for titrations of the virus content in the brains. Full-length genome of SA4 was sequenced and compared with SA14 as well as other JE virus strains in the world. The results indicated that the mice inoculated by SA4 induced sickness and death more rapidly (24 hours faster) than those induced by the SA14. The virus titers in the brains of mice infected with SA4 were 0.5-1.0 lg PFU/mL higher than that infected with SA14. The sequence comparison indicated that the nucleotide and amino acid homology between SA4 and the other 21 JE strains were 84.6%-99.0% and 95.2%-99.7% respectively. Comparison with strain SA14 revealed that there were 17 amino acid differences between the two strains, of which 5 were in the E protein region. The results demonstrate that strain SA4 is a highly neurovirulent strain. The substitutions of the 17 amino acids in the SA4 strain can be the molecular basis for the biological characteristics of high neurovirulence.
Asunto(s)
Animales , Humanos , Ratones , Encéfalo , Virología , Virus de la Encefalitis Japonesa (Especie) , Clasificación , Genética , Virulencia , Encefalitis Japonesa , Mortalidad , Virología , Genotipo , Análisis de Secuencia , Proteínas del Envoltorio Viral , Genética , VirulenciaRESUMEN
The objective of this study was to explore the changes of aggregation function of apheresis platelets and soluble P-selectin (sP-selectin) during storage. 20 samples of apheresis platelets were collected, and the aggregation function were examined by function test and the level of sP-selectin every day in storage of 5 days. The results showed that the aggregation function of platelets declined obviously during storage, there were significant differences between the first-day group and any of the other groups (p < 0.01). The max platelet aggregation rate was < or = 3% in the fourth-day group; sP-selectin level in plasma increased with prolong of storage time; there were significant differences between the first-day group and any of the other groups (p < 0.05). In conclusion, platelets were activated continuously during storage, while its aggregation function declines significantly. The ability of platelet aggregation to response to ADP loses almost completely since the fourth day during platelet storage. It should be paid more attention to the damage of apheresis collected platelets during storage.
Asunto(s)
Adulto , Humanos , Masculino , Plaquetas , Metabolismo , Fisiología , Selectina-P , Sangre , Agregación Plaquetaria , Recuento de Plaquetas , Plaquetoferesis , Métodos , Manejo de EspecímenesRESUMEN
<p><b>OBJECTIVE</b>Clinical and liver pathological features of 60 primary biliary cirrhosis (PBC) patients were reviewed to identify prognostic factors in order to improve the diagnosis and treatment of the disease.</p><p><b>METHODS</b>The general conditions, clinical manifestations, serum biochemical and immunological changes, and liver pathological findings were assessed in 60 PBC patients. All cases were followed up and 5 variables were studied by univariate analysis; the variables linked with survival were included in a Cox model.</p><p><b>RESULTS</b>Forty-eight patients were females (80%), 12 were males (20%), and the mean age at their diagnoses was (52.5+/-9.4). The symptoms most frequently complained about were jaundice (61.6%), fatigue (51.6%), anorexia (43.3%) and pruritus (25%). Serum alkaline phosphatase (ALP) and glutamyl transpeptidase (GGT) levels were markedly elevated in the majority of the patients [(242.3+/-137.1) U/L and (250.6+/-216.1) U/L, respectively], whereas ALT and AST levels were mildly to moderately elevated [(185.8+/-269.1) U/L and (172.5+/-163.6) U/L, respectively]. Thirty-two patients (53.3%) had a total bilirubin level of > or = 34.2 micromol/L. Twenty-eight patients (59.5%) had elevated serum IgM and 41 patients (68.3%) were anti-mitochondrial antibody AMA/AMA-M2 positive. Forty-two of the 60 patients had liver biopsies. The liver pathological changes: 33.3% of the cases were in I or II stage and 66.6% in III or IV stage. The follow up results: Five patients died of liver failure or massive upper gastrointestinal bleeding; 45 were still alive; the average survival period was 3.92 years; 10 patients were lost in the follow-up. With multivariate analysis (Cox model), age, level of total bilirubin and the stage of the liver pathological changes were found to be independent factors linked to the survival of the patients.</p><p><b>CONCLUSION</b>PBC may not be a rare liver disease in China. The awareness to recognize PBC is important in making an early diagnosis and treatment.</p>
Asunto(s)
Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven , Hígado , Patología , Cirrosis Hepática Biliar , Diagnóstico , Patología , PronósticoRESUMEN
<p><b>OBJECTIVE</b>To determine the correlation of the rate of morphologically normal sperm, sperm head defect, teratozoosperm index (TZI) and sperm deformity index (SDI) with the fertilization outcome of IVF and intracytoplasmic sperm injection (ICSI).</p><p><b>METHODS</b>We detected normal sperm morphology, sperm head defect, TZI and SDI by Krüger's strict criteria and compared them with the rate of fertilization.</p><p><b>RESULTS</b>In either IVF or ICSI, the fertilization rate did not show any correlation with the normal sperm morphology rate, the head defect rate, TZI and SDI, nor any statistic differences were found in the rates of fertilization, clinical pregnancy and quality embryos either between the SDI > 1.6 and the SDI < 1.6 groups (P > 0.05) or between the normal sperm morphology rate > 15% and < 15% groups (P > 0.05).</p><p><b>CONCLUSION</b>Sperm morphology has no predictive value for the rate of fertilization in vitro.</p>