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1.
Chinese Journal of Biotechnology ; (12): 1025-1038, 2022.
Article in Chinese | WPRIM | ID: wpr-927760

ABSTRACT

In order to explore the antitumor effect and mechanism of different extracts of cultivated Phellinus vaninii fruit body on H22 tumor bearing mice, 150 ICR mice were randomly divided into blank group, model group, CTX group, P. vaninii water extract group, ethanol extract group, petroleum ether extract group and crude polysaccharide group. H22 liver cancer cells were used to establish a solid tumor model and the mice were sacrificed on the 10th day after administration. The spleen and thymus organ index and tumor inhibition rate were calculated, the serum levels of TNF-α, INF-γ, VEGF, and hematoxylin-eosin were detected, and the immunohistochemical staining method was used to observe the pathological changes of tumor tissues, while Western blotting was used to detect the expression of tumor-related proteins. The high-dose petroleum ether extract group showed the best tumor inhibition rate (73.21%), increased serum levels of TNF-α, IFN-γ, and VEGF, as well as significantly promoted tumor necrosis and ablation. The immunohistochemistry of the water extract group showed negative regulation, indicating an insignificant tumor suppression. Western blotting showed the apoptosis genes Caspase-3, Caspase-9 and pathway genes NF-κB and JAK were all highly expressed in each administration group compared with the model group, and their expression levels gradually decreased with increasing doses. In summary, the petroleum ether extract of P. vaninii fruit body showed a significant anti-tumor effect which is presumably mediated through the mitochondrial pathway. The metabolism of drug in the body induces activation of Caspase-3 and Caspase-9 apoptotic proteins by Bax, Bcl-2, and TNF, which further caused nuclear chromatin or DNA to condense or degrade, and subsequently destroy the normal proliferation of tumor cells, thereby inducing their apoptosis and inhibiting tumor growth.


Subject(s)
Animals , Apoptosis , Basidiomycota , Mice , Mice, Inbred ICR , Neoplasms/metabolism
2.
Article in Chinese | WPRIM | ID: wpr-908855

ABSTRACT

Objective:To explore the effect of the "trinity" training mode with curriculum training as the core, lecture training as supplement and community training as reinforcement, and to improve the health education ability of higher vocational nursing students.Methods:A total of 209 nursing students were selected as the research objects by random cluster sampling, and they were randomly divided into experimental group and control group. The experimental group adopted the "trinity" system to improve the health education ability of higher vocational nursing students, while the control group carried out the routine teaching. The health education ability of nursing students was evaluated by using the health education ability scale of nursing staff, and the nursing students of the experimental group were investigated by questionnaire. Statistics analysis was made by SPSS 15.0 software, the t test was conducted for analysis of measurement data, and Z test was used for counting data. Results:The health education ability of the nursing students in the experimental group was significantly higher than that of the control group ( P < 0.001). Nursing students in the experimental group generally had high recognition of the training mode of "trinity" system. The pass rate was 98.13%. Among them, 68.87% of the nursing students thought it would be a big gain to attend the special lectures; 69.81% of the nursing students thought it would be a big gain to participate in the community activities. Conclusion:The "trinity" health education ability training model can significantly improve the health education ability of higher vocational nursing students.

3.
Article in Chinese | WPRIM | ID: wpr-905824

ABSTRACT

Objective:To investigate academic publications of students of the full-time master of public health (professional degree, MPH) program and explore their research capacity. Methods:A total of 160 students of the full-time MPH program admitted from 2010 through 2014 were included in the study. Their academic publications were retrieved for analysis. Results:The average number of academic publications was 1.35. Moreover, 10.2% of the students had academic publications in Chinese journals, and 12.5% had publications in SCI-indexed English journals. Type of disciplines, province they were from, and economic status of their family were determined to be significantly associated with academic publications in SCI-indexed journals. Conclusion:Students of the full-time MPH program have research capacity; however, they have achieved relatively few academic publications of high quality. Establishment of a teaching and training program is warranted in both practice and research for students in full-time MPH programs in universities.

4.
Article in Chinese | WPRIM | ID: wpr-887141

ABSTRACT

Objective:To study the association between metabolic syndrome (MS) and Chinese healthy eating index (CHEI), and to identify the beneficial or adverse effects of diets on MS in a community population of Shanghai. Methods:Based on the inclusion and exclusion criteria, the data of 4 856 subjects from a community in Shanghai was collected by interview. Total CHEI score and its component score were calculated based on the frequency of food consumption. Physical examination and blood biochemical tests were used to diagnose MS. The logistic regression model was used to analyze the relationship between MS or relative indexes and the total CHEI score or its component score. Results:The study showed the overall prevalence of MS was 24.71%. There were significant differences between MS group and controls (P<0.05) in age, BMI, waist circumference, fasting blood glucose, triglycerides, total cholesterol, systolic blood pressure, diastolic blood pressure, glycated hemoglobin, high-density lipoprotein and energy intake. After adjusting for potential confounders, it showed that the higher total CHEI score, the lower risk of central obesity, increased diastolic blood pressure, increased glycated hemoglobin, hyperglycemic and MS (P<0.05). The increase in component score of potatoes, milk, beans, dark vegetables, fruits, oil and sodium reduced risk of obesity, hypertension, hyperglycemia, dyslipidemia and MS (P<0.05). Conclusion:The quality of healthy diet (CHEI score more than 80) and increased intake of specific dietary components (potatoes, milk, beans, dark vegetables, fruits) reduce the risk of MS effectively.

5.
Article in Chinese | WPRIM | ID: wpr-884312

ABSTRACT

Objective:To explore the feasibility and prognosis of prenatal ultrasonic diagnosis of fetal isolated vascular ring at 11-13 + 6 weeks. Methods:A total of 36 996 fetuses were selected to compare the results of ultrasound screening at 11-13 + 6 weeks and 20-24 weeks of pregnancy in Guangxi Maternity & Child Healthcare Hospital from January 2016 to January 2020, the reasons for missed diagnosis and misdiagnosis of fetal isolated vascular ring by ultrasonography in the first trimester were summarized. Results:Thirty-five cases were diagnosed as isolated vascular ring in the first trimester, including 19 cases right aortic arch combined with aberrant left subclavian artery with "U-shaped" vascular ring, 7 cases double aortic arch with "O-shaped" vascular ring, and 9 cases aberrant right subclavian artery with "C-shaped" vascular ring. While 155 cases were diagnosed as isolated vascular ring at 20-24 weeks of pregnancy, consisting of 18 cases of combined with aberrant left subclavian artery, 9 cases of double aortic arch, 126 cases of aberrant right subclavian artery and 2 cases of pulmonary artery sling, the diagnosis coincidence rates were 94.74%, 77.78%, 7.14%, 0(Kappa value were 0.97, 0.88, 0.13, 0). For the diagnosis of right aortic arch combined with aberrant left subclavian artery, double aortic arch and aberrant right subclavian artery in the first trimester, the specificities were 99.99%, 100%, 100%, the sensitivities were 100%, 77.78%, 7.14%, the false-positive rates were 0.01%, 0, 0, the false-negative rates were 0, 22.22%, 92.86%, and the Youden′s indices were 0.99, 0.78, 0.07.Conclusions:Right aortic arch combined with aberrant left subclavian artery and double aortic arch have high coincidence rate by ultrasonography in the first trimester, while the diagnostic coincidence rate of isolated aberrant right subclavian artery was low. Ultrasound screening for isolated vascular ring in the first trimester still needs ultrasound examination in the second trimester to exclude the minor cardiac malformations that are difficult to diagnose in the first trimester.

6.
Article in English | WPRIM | ID: wpr-888491

ABSTRACT

OBJECTIVES@#To investigate the distribution of genotypes of thalassemia in children in Guangxi, China.@*METHODS@#A total of 30 417 children with positive results of thalassemia screening in the Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region from January 2011 to December 2019 were enrolled. Single-tube multiplex PCR, agarose gel electrophoresis, and reverse dot blot hybridization technique were used for the detection of common α- and β-thalassemia genes. Gap-PCR or gene sequence analysis was performed for 2 703 children suspected of rare thalassemia.@*RESULTS@#Among the 30 417 children with positive results of thalassemia screening, 23 214 (76.32%) were diagnosed with thalassemia, and the detection rates of α-thalassemia, β-thalassemia, and α-thalassemia with β-thalassemia were 47.77%, 23.75%, and 4.80% respectively. A total of 13 types of α-thalassemia alleles (18 480 alleles in total) were detected, mainly --@*CONCLUSIONS@#There are diverse gene mutations and rich genotypes of thalassemia among children in Guangxi, and α-thalassemia is more common, with --


Subject(s)
Child , China/epidemiology , Genotype , Heterozygote , Humans , Mutation , alpha-Thalassemia/genetics , beta-Thalassemia/genetics
7.
Article in Chinese | WPRIM | ID: wpr-888363

ABSTRACT

OBJECTIVE@#To explore the genetic basis of four children with congenital hyperinsulinemia (CHI).@*METHODS@#The four children were subjected to high-throughput whole exome sequencing (WES). Candidate variants were validated by Sanger sequencing.@*RESULTS@#WES analysis has identified 4 variants in the ABCC8 gene and 1 variant in GLUD1, including a ABCC8 c.382G>A variant in case 1, compound heterozygous c.698T>C and c.4213G>A variants of the ABCC8 gene concomitant with a de novo 14.9 Mb microduplication of chromosome 15 in case 2, and ABCC8 c.331G>A variant in case 3, and de novo c.955T>C variant of the GLUD1 gene in case 4. Of these, c.698T>C of the ABCC8 gene and c.955T>C of the GLUD1 gene were unreported previously. Based on the American College of Medical Genetics and Genomics guidelines, the c.382G>A(p.Glu128Lys), c.698T>C(p.Met233Thr) and c.4213G>A(p.Asp1405Asn) variants of ABCC8 gene and c.955T>C(p.Tyr319His) variant of GLUD1 gene were predicted to be likely pathogenic(PM1+PM2+PP3+PP4, PM1+PM2+PM5+PP3+PP4, PM1+PM2+PP3+PP4 and PS1+PM1+PM2+PP3), and the c.331G>A (p.Gly111Arg) variant of ABCC8 gene was predicted to be uncertain significance(PM1+PM2+PP4).@*CONCLUSION@#The variants of the ABCC8 and GLUD1 genes probably underlay the pathogenesis of CHI in the four patients. Above results have facilitated clinical diagnosis and genetic counseling for the affected families.


Subject(s)
Child , Genomics , High-Throughput Nucleotide Sequencing , Humans , Hyperinsulinism , Mutation , Whole Exome Sequencing
8.
Neuroscience Bulletin ; (6): 1583-1594, 2021.
Article in English | WPRIM | ID: wpr-922637

ABSTRACT

It is widely acknowledged that holistic processing is a key characteristic of face perception. Although holistic processing implies the automatic integration of face parts, it is unclear whether such processing requires the awareness of face parts. Here, we investigated the interactions between visible face parts and face parts rendered invisible using continuous flash suppression (CFS). In the first experiment with the upper half-face visible and the lower half-face invisible, the results showed that perceived face identity was influenced by the invisible lower half-face, suggesting that integration occurs between the visible and invisible face parts, a variant of the "composite face effect". In the second experiment, we investigated the influence of visible face parts on the processing of invisible face parts, as measured by the time it took for the invisible parts to break out from CFS. The results showed a visible-to-invisible facilitation effect, that the aligned invisible face parts broke through CFS faster than when the visible and invisible face parts were misaligned. Visible eyes had a stronger influence on the invisible nose/mouth than the other way around. Such facilitation of processing from visible to invisible parts was also found when Chinese characters were used as stimuli. These results show that information integration occurs across the consciousness boundary.


Subject(s)
Awareness , Consciousness , Eye , Face , Facial Recognition , Photic Stimulation
9.
Article in Chinese | WPRIM | ID: wpr-880063

ABSTRACT

OBJECTIVE@#To present one patient initially diagnosed with dermatomyositis(DM) who was eventually revealed to be diffuse large B-cell lymphoma(DLBCL) complicated with hemophagocytic syndrome(HPS), and to improve the understanding of the disease.@*METHODS@#The clinical characteristics, diagnostic approach, treatment of the patient were retrospectively analyzed, and some related literatures were reviewed.@*RESULTS@#A 52-year-old female patient suffered from muscle weakness, elevated serum creatine kinase activity, electromyography changes and characteristic skin rashes and diagnosed as DM. The patient was treated with glucocorticoid therapy and the muscle strength, skin rashes, and creatine kinas index turns into remission. Subsequently, subcutaneous nodules appeared during treatment, and the patient was confirmed as DLBCL based on pathological biopsy; And the patient was considered HPS because of presenting with repeated fever, splenomegaly, cytopenias, hypofibrinogenemia, hypertriglyceridemia, hyperferritinemia, high levels of sCD25, low NK-cell activity and hemophagocytosis in bone marrow. But the patient refused chemotherapy, and only treated with "DXM+VP-16" to control hemophagocytic syndrome, and unfortunately died due to the disease progression.@*CONCLUSION@#Cutaneous involvement in diffuse large B-cell lymphoma and hemophagocytic syndrome patients with first presentation of dermatomyositis is relatively rare. Malignacy screening should be performed as soon as possible after newly diagnosed DM, so that the patient can get early diagnosis and effective treatment to improve survival rate.


Subject(s)
Dermatomyositis/complications , Etoposide , Female , Humans , Lymphohistiocytosis, Hemophagocytic/diagnosis , Lymphoma, Large B-Cell, Diffuse/complications , Middle Aged , Retrospective Studies
10.
Article in Chinese | WPRIM | ID: wpr-879883

ABSTRACT

OBJECTIVE@#To study the influence of placental pathological chorangiosis in the mother on the mortality of neonates and the incidence rate of complications.@*METHODS@#A retrospective analysis was performed for the neonates who were hospitalized within 3 days after birth in the Department of Neonatology, Xiamen Maternal and Child Health Hospital, from July 2016 to February 2020. According to whether the placental pathology showed chorangiosis, the neonates were divided into an observation group and a control group (@*RESULTS@#Compared with the control group, the observation group had a significantly higher cesarean section rate (@*CONCLUSIONS@#Neonates born to mothers with placental pathological chorangiosis tend to have a higher morbidity rate and incidence rate of complications. It is important to improve the understanding of chorangiosis and provide intervention as soon as possible, in order to reduce complications and improve prognosis.


Subject(s)
Cesarean Section , Child , Female , Humans , Infant, Newborn , Infant, Newborn, Diseases , Infant, Small for Gestational Age , Pregnancy , Pregnancy Complications , Retrospective Studies
11.
Chinese Journal of Traumatology ; (6): 100-103, 2021.
Article in English | WPRIM | ID: wpr-879678

ABSTRACT

PURPOSE@#Hemodynamically unstable patients with pelvic fractures still represent a challenge to trauma surgeons and have a very high mortality. This study was designed to explore the effect of the interventions of direct preperitoneal pelvic packing for the hemodynamically unstable pelvic fractures.@*METHODS@#This retrospective study enrolled 67 cases of severe pelvic fractures with unstable hemodynamics from October 2011 to December 2019. All patients presented in our emergency center and received preperitoneal pelvic packing were included in this study. The indication was persistent systolic blood pressure ≤90 mmHg during initial resuscitation and after transfusion of two units of red blood cells. Patients with hemodynamic stability who need no preperitoneal pelvic packing to control bleeding were excluded. Their demographic characteristics, clinical features, laboratory results, therapeutic interventions, adverse events, and prognostic outcomes were collected from digital information system of electronic medical records. Statistics were described as mean ± standard deviation or medium and analyzed using pair sample t-test or Mann-Whitney U-test.@*RESULTS@#The patients' average age was 41.6 years, ranging from 10 to 88 years. Among them, 45 cases were male (67.2%) and 22 cases were female (32.8%). Significant difference was found regarding the systolic blood pressure (mmHg) in the emergency department (78.4 ± 13.9) and after preperitoneal pelvic packing in the surgery intensive care unit (100.1 ± 17.6) (p < 0.05). Simultaneously, the arterial base deficit (mmol/L) were significantly lower in the surgery intensive care unit (median -6, interquartile range -8 to -2) than in the emergency department (median -10, interquartile range -14 to -8) (p < 0.05). After preperitoneal pelvic packing, 15 patients (22.4%) underwent pelvic angiography for persistent hypotension or suspected ongoing haemorrhage. The overall mortality rate was 29.5% (20 of 67).@*CONCLUSIONS@#Preperitoneal pelvic packing, as a useful surgical technique, is less invasive and can be very efficient in early intra-pelvic bleed control.

12.
Article in Chinese | WPRIM | ID: wpr-873287

ABSTRACT

Objective::To observe the clinical efficacy of Gandouling decoction on hepatic function of patients with phlegm and blood stasis type Wilson's disease. Method::From January 2015 to December 2017, totally 72 cases of phlegm and blood stasis type Wilson's disease admitted to Encephalopathy Center in the First Affiliated Hospital of Anhui University of Chinese Medicine were randomly divided into treatment group and control group, with 36 cases in each group. Patients in both groups were injected with sodium dimercaptopropane sulfonate for routine treatment. At the same time, patients in control group received Hugan Tablets, and patients in treatment group received Gandouling decoction for a total of 6 treatment courses. Before and after treatment, traditional Chinese medicine(TCM)syndrome effective rate, serum enzyme index [alanine aminotransferase(ALT), aspartate aminotransferase (AST), alkaline phosphatase(AKP)], bilirubin metabolism index [total bilirubin(TBIL)], liver fibrosis index [laminin(LN), hyaluronic acid(HA), collagen type IV(CⅣ), procollagen type Ⅲ peptide(PⅢP)]and blood coagulation index [fibrinogen (FBG), prothrombin time (PT), activated partial thromboplastin time (APTT), thrombin time (TT) ]were observed. Result::TCM syndrome effective rates of treatment group and control group were 86.11%(31/36) and 63.98%(23/36) respectively, with a significant difference between two groups (P<0.05). ALT, AST, AKP, TBIL decreased in two groups after treatment (P<0.01), and the effects of ALT, AST, AKP, TBIL in treatment group were significantly better than those in control group (P<0.01), liver fibrosis index decreased in both groups after treatment (P<0.01), and the effect in treatment group was significantly better than that in control group (P<0.01). Blood coagulation indexes were improved to different degrees in both groups (P<0.05, P<0.01), and there were significant differences between treatment group and control group in decreasing PT, APTT, TT levels (P<0.05, P<0.01) and increasing FBG level (P<0.01). Conclusion::Gandouling decoction can significantly improve hepatic function of patients with phlegm and blood stasis type Wilson's disease, which is manifested in improving serum enzymes and bilirubin indexes, reversing liver fibrosis, promoting clotting factors and reducing bleeding tendency, in order to delay the progress of the disease and improve the life quality of patients.

13.
Protein & Cell ; (12): 417-432, 2020.
Article in English | WPRIM | ID: wpr-828761

ABSTRACT

Vision formation is classically based on projections from retinal ganglion cells (RGC) to the lateral geniculate nucleus (LGN) and the primary visual cortex (V1). Neurons in the mouse V1 are tuned to light stimuli. Although the cellular information of the retina and the LGN has been widely studied, the transcriptome profiles of single light-stimulated neuron in V1 remain unknown. In our study, in vivo calcium imaging and whole-cell electrophysiological patch-clamp recording were utilized to identify 53 individual cells from layer 2/3 of V1 as light-sensitive (LS) or non-light-sensitive (NS) by single-cell light-evoked calcium evaluation and action potential spiking. The contents of each cell after functional tests were aspirated in vivo through a patch-clamp pipette for mRNA sequencing. Moreover, the three-dimensional (3-D) morphological characterizations of the neurons were reconstructed in a live mouse after the whole-cell recordings. Our sequencing results indicated that V1 neurons with a high expression of genes related to transmission regulation, such as Rtn4r and Rgs7, and genes involved in membrane transport, such as Na/K ATPase and NMDA-type glutamatergic receptors, preferentially responded to light stimulation. Furthermore, an antagonist that blocks Rtn4r signals could inactivate the neuronal responses to light stimulation in live mice. In conclusion, our findings of the vivo-seq analysis indicate the key role of the strength of synaptic transmission possesses neurons in V1 of light sensory.

14.
Protein & Cell ; (12): 417-432, 2020.
Article in English | WPRIM | ID: wpr-828597

ABSTRACT

Vision formation is classically based on projections from retinal ganglion cells (RGC) to the lateral geniculate nucleus (LGN) and the primary visual cortex (V1). Neurons in the mouse V1 are tuned to light stimuli. Although the cellular information of the retina and the LGN has been widely studied, the transcriptome profiles of single light-stimulated neuron in V1 remain unknown. In our study, in vivo calcium imaging and whole-cell electrophysiological patch-clamp recording were utilized to identify 53 individual cells from layer 2/3 of V1 as light-sensitive (LS) or non-light-sensitive (NS) by single-cell light-evoked calcium evaluation and action potential spiking. The contents of each cell after functional tests were aspirated in vivo through a patch-clamp pipette for mRNA sequencing. Moreover, the three-dimensional (3-D) morphological characterizations of the neurons were reconstructed in a live mouse after the whole-cell recordings. Our sequencing results indicated that V1 neurons with a high expression of genes related to transmission regulation, such as Rtn4r and Rgs7, and genes involved in membrane transport, such as Na/K ATPase and NMDA-type glutamatergic receptors, preferentially responded to light stimulation. Furthermore, an antagonist that blocks Rtn4r signals could inactivate the neuronal responses to light stimulation in live mice. In conclusion, our findings of the vivo-seq analysis indicate the key role of the strength of synaptic transmission possesses neurons in V1 of light sensory.

15.
Article in Chinese | WPRIM | ID: wpr-827194

ABSTRACT

OBJECTIVE@#To investigate the prognostic evaluation value of neutrophil-lymphocyte ratio (NLR) in patients with newly diagnosed angioimmunoblastic T cell lymphoma (AITL).@*METHODS@#Clinical data of 39 patients with newly diagnosed AITL in our hospital from March 2010 to August 2018 were colleated and retrospective analyzied, and the relationship between NLR before treatment and the prognosis of AITL patients was analyzed.@*RESULTS@#Among 39 AITL patients, the median value of NCR was 5.43. Based on the cut-off value (5.43), all the patients were divided into 2 groups: high NLR group (5.43, n=20) and a low NLR group (<5.43, n=19). The total effective rate of treatment was lower in the high NLR group as compered with low NLR group (P=0.041). Univariate analysis showed that, age >60 years old, extranodal involvement>1 as well as high NLR were the independent risk factors that affected overall survival (OS) in newly diagnosed AITL patients. Multivariate Cox analysis showed that extranodal involvement>1 and high NLR were the independent risk factors that affected OS in newly diagnosed AITL patients.@*CONCLUSION@#The NLR may be an independent prognostic factor in patients with newly diagnosed AITL. High NLR associated with poor prognosis.


Subject(s)
Humans , Lymphocytes , Lymphoma, T-Cell , Middle Aged , Neutrophils , Prognosis , Retrospective Studies
16.
Journal of Experimental Hematology ; (6): 1326-1331, 2020.
Article in Chinese | WPRIM | ID: wpr-827117

ABSTRACT

OBJECTIVE@#To investigate the clinical characteristics, laboratorial and bone marrow pathological features of primary thrombocytopenia (ET) patients with different mutations of CALR, JAK2 and MPL genes.@*METHODS@#The chinical data of 120 cases of ET in Jiangsu provincial people's hospital/ The First Affiliated Hospital of Nanjing Medical University from January 2015 to December 2017 were collected and analyzed, including 76 cases with JAK2 gene mutation, 40 cases with CALR gene mutation, 2 cases with MPL gene mutations, 2 cases without gene mutation.@*RESULTS@#Among the ET patients, compared with the JAK2 gene mutation, CALR gene mutation showed statistically significant deareament of white blood cells and hemoglobin (P=0.001, P=0.01) and the male platelets in CALR group showed significant increament (P=0.04). Fourthermore, the average number of megakaryocytes and its cluster numbers in each hight power field of vision showed statistically significant decreament in CALR group as compared with JAK2 group (P=0.001, P=0.001), and thrombotic events in CALR group were signicantly lower than those in JAK2 group (7.5% vs 18.4%) (P=0.03).@*CONCLUSION@#Mutations of CALR, JAK2 have different clinical characteristics and blood pathological changes of Chinese ET patients, and their clinical significance is worth to explore.


Subject(s)
Bone Marrow , Calreticulin , Genetics , China , Humans , Janus Kinase 2 , Genetics , Male , Mutation , Receptors, Thrombopoietin , Genetics , Thrombocythemia, Essential
17.
Article in Chinese | WPRIM | ID: wpr-826542

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a couple with normal phenotype but repeated pregnancies with fetuses affected by osteogenesis imperfecta.@*METHODS@#Whole exome sequencing (WES) was carried out on fetal specimens and parental DNA to detect potential pathologic variants. Suspected variants were verified by Sanger sequencing. Semen sample of the husband was collected for the extraction of genome DNA, and whole genome amplification (WGA) was performed for single sperms isolated from the sample.@*RESULTS@#WES has identified a heterozygous c.1378G>A (p.G460S) variant of the COL1A2 gene in the fetus, which was predicted to be pathogenic but not detected in peripheral blood samples of both husband and wife. The heterozygotic variant was detected in semen DNA from the husband. Among 15 spermatozoa, 4 were found to harbor the variant.@*CONCLUSION@#The fetus was diagnosed with osteogenesis imperfecta, and the gonadal mosaicism probably accounted for the repeated abnormal pregnancies. Possibility of gonadal mosaicism should be considered when counseling couples with normal phenotype and genotype but recurrent abnormal pregnancies and/or births of children with similar phenotypes and genetic variants.


Subject(s)
Adult , Child , Collagen Type I , Genetics , Female , Fetus , Gonadal Disorders , Genetics , Humans , Male , Mosaicism , Mutation , Osteogenesis Imperfecta , Diagnosis , Genetics , Pregnancy , Prenatal Diagnosis , Whole Exome Sequencing
18.
Journal of Experimental Hematology ; (6): 2011-2016, 2020.
Article in Chinese | WPRIM | ID: wpr-880007

ABSTRACT

OBJECTIVE@#To investigate the genotype distribution of thalassemia in the population of childbearing age in Yulin area.@*METHODS@#The polymerase reaction (PCR) combined with agargel eletrophoresis and reserve dot bolt hybridization was used to detected the α- and β-thalassemia gene in 31 769 cases of suspected thalassemia population at childbearing-age.@*RESULTS@#A total of 22 254 cases were identified as thalassemia gene detetion or mutation in 31 769 cases with a detecting rate of 70.05%, and the detecting rate of α-thalassemia, β-thalassemia and α-combining β-thalassemia were 45.86% (14 569/31 769), 19.45% (6 178/31 769) and 4.74% (1 507/31 769) respectively. 28 kinds of α-thalassemia gene mutations were detected, the common mutations were as follows: --@*CONCLUSION@#The detection rate of thalassemia gene is high in Yulin caildbearing-age population, and there is diversity in mutation spectrums of thalassemia. The most common genotypes are --


Subject(s)
China , Genotype , Humans , Mutation , alpha-Thalassemia/genetics , beta-Thalassemia/genetics
19.
Journal of Experimental Hematology ; (6): 1991-1997, 2020.
Article in Chinese | WPRIM | ID: wpr-880004

ABSTRACT

OBJECTIVE@#To evaluate the efficacy of decitabine combined with low-dose CEG regimen (DCEG) and decitabine combined with low-dose CAG regimen (DCAG) in the treatment of elderly patients with MDS and MDS-transformed acute myeloid leukemia (AML).@*METHODS@#A prospective study was conducted in 7 medical centers, 45 patients with MDS (≥ 60 years old) and MDS-transformed AML from October 2016 to January 2019 were enrolled, with the median age of 68.5 years old. The risk stratification of patients was poor or very poor, according to IPSS-R score. The treament results of decitabine combined with CEG and decitabine combined with CAG were compared.@*RESULTS@#The comparison of the two regiem showed that the DCEG regimen had advantages on total effective rate (ORR, 86.4% vs 47.8%, respectively), overall survival time (OS) (10.0 months vs 6.0 months, respectively) and progression-free survival time (PFS) (9.0 months vs 3.0 months, respectively). About 50% of MDS patients treated by DCEG regimen achieved PR or CR, with a median OS of 31 months. Multivariate analysis showed that patients with PR or CR after induction therapy and DCEG regimen had longer survival time (31months). The incidence of bone marrow suppression, infection and treatment-related mortality rate were similar between the two groups.@*CONCLUSION@#Decitabine combined with CEG regimen could improve the survival of patients with high-risk MDS and MDS-transformed AML. The conclusion of the reaserch needs to be validated by a larger prospective randomized clinical trial.


Subject(s)
Aclarubicin , Aged , Antineoplastic Combined Chemotherapy Protocols , Azacitidine/therapeutic use , Cytarabine/therapeutic use , Decitabine/therapeutic use , Granulocyte Colony-Stimulating Factor , Humans , Leukemia, Myeloid, Acute/drug therapy , Myelodysplastic Syndromes/drug therapy , Patients , Prospective Studies , Treatment Outcome
20.
Chinese Journal of Epidemiology ; (12): 1554-1559, 2019.
Article in Chinese | WPRIM | ID: wpr-800270

ABSTRACT

Objective@#Tracking the information on 1.69 million fetal cases across Guangxi Zhuang Autonomous Region (Guangxi) so as to study the occurrences of total and major birth defects in order to evaluate the ability on related prevention and control programs in Guangxi.@*Methods@#Using the self-developed "Gui Women’s System" to establish a database of 1.69 million fetal cases in Guangxi and to analyze the distribution of time, space and population, as well as the outcomes of pregnancy, using the big data.@*Results@#During the 29 months of observation, the overall live birth rate was 99.25%, with stillbirth rate during pregnancy as 0.44%, stillbirth rate during birth as 0.02%, and the 0-6 days mortality rate as 0.14%. The total detection rate on birth defects was 197.63/10 000; the incidence rate was 103.04/10 000, the birth rate was 102.55/10 000. The overall discovery rate of major birth defects was 48.33/10 000, with the incidence rate as 783 000, the birth rate as 0.58/10 000. The discovery rates of major birth defects in 14 cities were between 35 and 68/10 000, and the birth rate dropped significantly to less than 1.00 in 10 000. Nationalities showed that the number of pregnant women with birth defects more than 50 000 would include Hui (9.68/10 000), Yao (9.57/10 000), and Jing (9.37/10 000). With the increasing age of gestation, number of birth defects, incidence of major birth defects also increased. Ninety-five percent of the major birth defects were found within <28 weeks and with the top 5 kinds of major birth defects as complicated congenital heart disease (9.11/10 000), alpha thalassemia (8.36/10 000), and 21-trisomy syndrome (7.85/10 000), beta thalassemia (5.32/10 000) and fetal edema syndrome (4.92/10 000). The top 5 major birth defects appeared as complicated congenital heart disease (9.11/10 000), alpha thalassemia (8.36/10 000), and 21-trisomy syndrome (7.85/10 000), beta thalassemia (5.32/10 000) and fetal edema syndrome (4.92/10 000).@*Conclusion@#Programs leading to increase the rate on discovery of major birth defects were fundamental in effectively reducing the major birth defects.

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