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OBJECTIVES: To study the characteristics of amino acid metabolism in preterm infants in Guangxi, China. METHODS: A retrospective analysis was performed on the medical data of 30 757 neonates who underwent the screening for inherited metabolic diseases and had negative results in Guangxi Neonatal Disease Screening Center from 2018 to 2020. Among these neonates, there were 28 611 normal full-term infants (control group) and 2 146 preterm infants (preterm birth group). According to gestational age, the preterm infants were further divided into four groups: very preterm (n=209), moderately preterm (n=307), and late preterm group (n=1 630). According to birth weight, they were divided into three groups: very low birth weight group (n=161), low birth weight group (n=1 085), and normal birth weight group (n=900). According to blood collection time, they were divided into three groups: 3-7 days group (n=1 664), 8-14 days group (n=314) and 15-28 days group (n=168). Tandem mass spectrometry was performed to measure the levels of 11 amino acids in dried blood spots, which were then compared between groups. RESULTS: After adjustment for confounding factors, there were significant differences in the levels of 11 amino acids among different gestational age groups (P<0.05), and significant differences were observed in the levels of the 11 amino acids between the control group and the various preterm groups (except for citrulline and methionine in the late preterm group). There were significant differences in the levels of 11 amino acids among different birth weight groups (P<0.05). Except for ornithine, there were significant differences in the levels of other amino acids among the different blood collection time groups (P<0.05). CONCLUSIONS: Gestational age, birth weight and blood collection time all affect amino acid metabolism in preterm infants in Guangxi, China. This provides a basis for the laboratory to establish the reference standard and clinical interpretation of blood amino acid levels in preterm infants, and to improve the nutritional metabolism of preterm infants.
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Recien Nacido Prematuro , Nacimiento Prematuro , Aminoácidos , China , Edad Gestacional , Humanos , Lactante , Recién Nacido , Recién Nacido de muy Bajo Peso , Estudios RetrospectivosRESUMEN
This study aimed to clarify the microbial diversity, dominant species and the change of community structures in the fermentation of Liushenqu(Massa Medicata Fermentata), and explore the material foundation of its pharmacodynamics effect. On the basis of standardizing the fermentation process, Massa Medicata Fermentata was prepared by screening and optimizing the recipes and the standard formula issued by the Ministry. The community structure and growth process of fungi and bacteria in the samples at five time points(0, 17, 41, 48, 65 h) in the fermentation process of Massa Medicata Fermentata were analyzed by using isolation and culture of eight different media and high-throughput DNA sequencing technology. The results indicated that the samples of the two recipes pre-sented high microbial diversity at the initial fermentation stage, with Aspergillus spp. as the dominant species. As the fermentation process goes forward, Saccharomycopsis fibuligera and Rhizopus oryzae soon became dominant species from 17 h after fermentation commencement point to the fermentation end, while the other species were inhibited at a lower level from 17 h. The species diversity of bacteria in the initial fermentation samples was also high, and Enterobacter was the dominant species. Enterobacter cloacae, Pediococcus pentosaceus and Cronobacter sakazakii became dominant bacterial species 17 h after fermentation commencement, while the species diversity was decreased. Our results will be a scientific basis for promoting the fermentation process of Massa Medicata Fermentata by using pure microbial cultures.
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Medicamentos Herbarios Chinos , Microbiota , Fermentación , Hongos/genética , SaccharomycopsisRESUMEN
STUDY OBJECTIVE: To evaluate the effects of vasopressin injection technique in laparoscopic cystectomy on ovarian reserve in patients with bilateral endometriomas. DESIGN: Randomized prospective study (Canadian Task Force classification I). SETTING: University hospital. PATIENTS: Eighty-six women with bilateral endometriomas. INTERVENTIONS: Laparoscopic cystectomy of bilateral endometriomas was performed using different techniques including laparoscopic cystectomy by stripping without injection (control group), laparoscopic cystectomy by stripping with injection of saline solution (saline group), and laparoscopic cystectomy by stripping with vasopressin injection technique (VIT group). MEASUREMENTS AND MAIN RESULTS: The number of coagulation events on the ovarian cortex for hemostasis was counted in different groups, and the thickness of ovarian tissues removed was measured. The basal follicle-stimulating hormone (FSH) level was determined before surgery and at 3-, 6-, and 12-month follow-up after laparoscopic cystectomy in the different groups. In the saline group, fewer coagulation events were required to achieve hemostasis, less ovarian tissues were removed, and lower preoperative FSH levels were detected than in the control group (p < .01). In the VIT group, even fewer coagulation events (p < .01) and lower preoperative FSH levels (p < .01) were detected than in the saline group. There was no significant difference in the thickness of ovarian tissues removed in the 2 groups (p > .05). Basal FSH levels were significantly different before and after surgery in the control and saline groups (p < .01) but not in the VIT group (p > .05). CONCLUSION: Vasopressin injection is an ideal procedure to reduce damage from usual laparoscopic cystectomy of bilateral ovarian endometriomas to protect ovarian reserve.
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Endometriosis/cirugía , Hemostáticos/administración & dosificación , Laparoscopía/métodos , Neoplasias Ováricas/cirugía , Vasopresinas/administración & dosificación , Adulto , Femenino , Humanos , Inyecciones Intralesiones , Persona de Mediana Edad , Reserva Ovárica , Estudios Prospectivos , Resultado del TratamientoRESUMEN
OBJECTIVE: To investigate the genotype, mutation type, and ethnic distribution characteristics of thalassemia in the population of Hechi area, Guangxi, and to provide a reference basis for prevention and control of thalassemia and eugenic counseling in the region. METHODS: Gap-polymerase chain reaction (gap-PCR) and reverse dot blot (RDB) were used for genetic testing on suspected thalassemia persons, and the results were analyzed. RESULTS: Among 29 136 samples, a total of 17 016 (58.40%) positive samples for thalassemia genes were detected, with a higher detection rate in males than in females (χ2=49.917ï¼P < 0.001). The detection rates of thalassemia genes were significant different among Zhuang, Han, Yao, Mulao, and Maonan ethnic groups (χ2=546.121, P < 0.001). The α-thalassemia genotypes were mainly --SEA /αα (16.67%), -α3.7/αα (8.90%), α CSα/αα (6.00%). Additionally, four rare genotypes were detected, including -- THAI/αα (47 cases), HKαα/αα (2 cases), --SEA /-α 21.9 (2 cases), and -- THAI/αCSα (1 case). The ß-thalassemia genotypes were mainly ß CD17/ßN (7.49%), ßCD41-42/ßN (6.70%), ßCD71-72/ßN (0.44%). 108 cases of moderate and severe ß-thalassemia were detected, of which 81 cases had a history of blood transfusion, the transfusion frequency of 60 cases was more than 10 times/year, and 10 cases received bone marrow transplantation. CONCLUSION: Thalassemia in Hechi area is predominantly deletion type --SEA /αα, the detection rate of thalassemia in ethnic minorities is higher than that in Han population. In this area, moderate and severe ß-thalassemia have certain incidence, these patients mostly need regular blood transfusion and iron removal treatment, and very few patients have received bone marrow transplantation. This study provides a certain reference basis for prevention and control of thalassemia and eugenic counseling in the region.
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Talasemia , Talasemia alfa , Femenino , Humanos , Masculino , Talasemia alfa/epidemiología , Talasemia alfa/genética , Talasemia beta/genética , China/epidemiología , Etnicidad/genética , Pruebas Genéticas , Genotipo , Mutación , Talasemia/genética , Pueblos del Este de Asia/genéticaRESUMEN
OBJECTIVE: To investigate the gene mutation and genotype distribution of thalassemia in the population of childbearing age in Chongzuo area of Guangxi. METHODS: Six α-thalassemia and 17 ß-thalassemia gene mutations common in Chinese were detected by gap-polymerase chain reaction (gap-PCR) combined with agarose gel eletrophoresis and reserve dot bolt hybridization in 29 266 cases of child-bearing age suspected of thalassemia. RESULTS: A total of 19 128 (65.36%) cases were identified with thalassemia. The detection rate of α-thalassemia, ß-thalassemia and α-combining ß-thalassemia was 45.25% (13 242/29 266), 15.47% (4 526/29 266) and 4.65% (1 360/29 266), respectively. A total carrying rate of 8 kinds of α-thalassemia gene mutations was 26.74% (15 649/58 532), including 12.51% for --SEA, followed by 5.70% for -α3.7, and 0.24% for --Thai. Among 32 α-thalassemia genotypes, the most common five were --SEA/αα, -α3.7/αα, αCSα/αα, -α4.2/αα and αWSα/αα, accounting for 47.27%, 18.31%, 8.56%, 8.52% and 7.91%, respectively, as well as 0.97% for --Thai/αα. A total carrying rate of 13 kinds of ß-thalassemia gene mutations was 10.07% (5 897/58 532), including 3.63% for CD41-42, followed by 2.55% for CD17, and 0.003% for -50 (G>A). Among 17 ß-thalassemia genotypes, the most common six were CD41-42/N, CD17/N, CD71-72/N, CD26/N, 28/N and IVSI-1/N, accounting for 36.15%, 25.81%, 9.43%, 8.18%, 8.09% and 7.75%. The homozygous genotype CD26/CD26 [hemoglobin (Hb): 121 g/L] and -28/-28 (Hb: 56 g/L) were respectively detected in one case, and double heterozygous genotype were detected in 5 cases, including 3 cases of CD41-42/CD26 (Hb: 41 g/L, 51 g/L, 63 g/L, respectively), 1 case of -28/IVSI-1 (Hb: 53 g/L), and 1 case of CD71-72/CD26 (Hb: 89 g/L), in which patients with moderate or severe anemia had a history of blood transfusion. Among 104 α-combining ß-thalassemia genotypes, the most common were --SEA/αα, -α3.7/αα combining CD41-42/N and --SEA/αα combining CD17/N, accounting for 12.13%, 9.63% and 9.26%, respectively. In addition, 1 case of --SEA/-α3.7 combining -28/IVSI-1 (Hb: 83 g/L) and 1 case of -α3.7/αα combining CD41-42/ CD41-42 (Hb: 110 g/L) were detected without history of blood transfusion, while 1 case of αWSα/αα combining CD41-42/CD17 (Hb: 79 g/L) and 1 case of --SEA/αα combining CD17/-28 (Hb: 46 g/L) were detected with history. CONCLUSIONS: The detection rate of thalassemia genes is high and the mutations are diverse in the population of childbearing age in Chongzuo area of Guangxi. The common deletion genotype is --SEA/αα in α-thalassemia and CD41-42/N in ß-thalassemia, and deletion genotype --Thai is not rare. There is a certain incidence of intermediate and severe ß-thalassemia, and most patients require transfusion therapy. The results are beneficial for genetic consultation and intervention of thalassemia.
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Talasemia alfa , Talasemia beta , Humanos , Talasemia beta/epidemiología , Talasemia beta/genética , Talasemia alfa/epidemiología , Talasemia alfa/genética , Dipeptidil Peptidasa 4/genética , China/epidemiología , Genotipo , MutaciónRESUMEN
OBJECTIVE: To investigate the detection rate and hematologic phenotype of HKαα thalassemia in south Guangxi, in order to provide reference for the prevention and control of thalassemia and prenatal and postnatal care consultation in this region. METHODS: Gene testing was performed on pre-marital medical examinations, pre-pregnancy eugenic health examinations, prenatal examinations and hospitalized thalassemia-positive persons in south of Guangxi, and the results were analyzed. RESULTS: A total of 183 190 thalassemia patients were included in this study, the age was mainly concentrated in 26-35 years old (101 709 cases, accounting for 55.521%), and 40 HKαα mutations were detected, detection rate was 0.022%, including 5 cases in Nanning, 22 cases in Qinzhou, 2 cases in Fangchenggang, 11 cases in Beihai. A total of 29 ethnic groups were included in the survey, but HKαα gene was observed only in Han nationality (0.0380%) and Zhuang nationality (0.0068%). A total of 8 genotypes carrying HKαα mutations were detected in this study ( HKαα/--SEA, ßN/ ßN, HKαα/αα, ß-28/ ßN, HKαα/αα, ß-50/ ßN, HKαα/αα, ßCD17/ ßN, HKαα/αα, ßCD27/28/ß N, HKαα/αα, ßCD41-42/ ßN, HKαα/αα, ßCD71-72/ ßN, and HKαα/αα, ßN/ ßN). Except for most cases with HKαα/αα, ßN/ ßN genotypes with no significant changes in the hematological indexes, mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) of other genotypes were decreased, showing microcytic hypochromic performance, mild anemia or no anemia. CONCLUSION: HKαα carrier is often misdiagnosed as -α3.7 carrier, which easily leads to missed diagnosis or misdiagnosis. Therefore, it is necessary to continuously improve the diagnostic level of laboratory testing personnels and genetic counselors to avoid unnecessary interventional puncture operations and birth of children with moderate and severe thalassemia.
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Talasemia alfa , Talasemia beta , Niño , Femenino , Embarazo , Humanos , Adulto , Talasemia beta/genética , Talasemia alfa/genética , China , Genotipo , Fenotipo , MutaciónRESUMEN
An elastin-like polypeptide (ELP) sequence fused with Lactobacillus sp. B164 ß-galactosidase modified with 6x-Histidine (ß-Gal-LH) to produce recombinant ß-Gal-Linker-ELP-His (ß-Gal-LEH) was expressed in E. coli and purified via inverse thermal cycling (ITC) and nickel-nitrilotriacetic acid (Ni-NTA) resin. The ß-galactosidase integrated with ELP-system showed an improved purification at 1.75 M (NH4)2SO4 after 1 round ITC (95.66% recovery rate and 13.04 purification fold) with better enzyme activity parameters compared to Ni-NTA. The enzyme maintained an optimal temperature (40 °C) and pH (7.5) for both ß-Gal-LEH and ß-Gal-LH. The results further showed that the ELP-fusion system improved the enzyme's thermal and storage stability. Moreover, the enzyme secondary structure was not changed by ELP-tag. Enzyme activity was completely inactivated by Hg2+, Cd2+ and Cu2+, unaffected by Ca2+, EDTA and urea, but partially activated by Mn2+ at lower concentration. Compared to commercial ß-galactosidases, ß-Gal-LEH exhibited similar biocatalytic efficiency on lactose and could potentially catalyze transgalactosylation.
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Elastina , Lactosa , Escherichia coli , Hidrólisis , Lactobacillus , Péptidos , Proteínas Recombinantes de Fusión , beta-GalactosidasaRESUMEN
Objective:The aim of this study was to investigate the clinical characteristics and analyze the risk factors of patients with acute dichlorvos poisoning combined with shock.Methods:The clinical data of patients with acute dichlorvos poisoning admitted to the Peking University Third Hospital and the Fifth Medical Center of the PLA General Hospital between January 2019 and September 2020 were retrospectively analyzed, and demographic data, poisoning, clinical manifestations, laboratory tests, therapeutic measures and clinical outcomes were collected to establish a clinical database. The patients were divided into two groups: the shock group and the non-shock group, and the clinical data were compared between the two groups to analyze the clinical characteristics and prognosis of shock in acute dichlorvos poisoning, and the risk factors of shock in acute dichlorvos poisoning were analyzed by logistic regression.Results:A total of 134 patients who met the criteria for acute dichlorvos poisoning were included in this study; the incidence of shock within 24 hours of admission was 39.6% (53/134), and 11 patients (8.21%) died in hospital; the in-hospital morbidity and mortality rate of patients in the shock group was higher than that in the non-shock group (20.8% vs. 0.0%, P<0.001). Symptoms of sphincter relaxation, coma, hypothermia, and organ function damage were more common in the shock group than in the non-shock group; and shock patients had longer hospitalization, ICU stay, and invasive ventilator use. Binary logistic regression analysis showed that the presence of sphincter relaxation manifestations ( OR=10.888, 95% CI: 1.677-70.684, P=0.012) was an independent risk factor for comorbid shock in patients with acute dichlorvos poisoning, and the use of cholinesterase reanimators ( OR=0.246, 95% CI: 0.072-0.846, P=0.026) was a protective factor for combined shock in patients with acute dichlorvos poisoning. Conclusions:The incidence of shock in patients with acute dichlorvos poisoning is high and affects the clinical prognosis, and the presence of sphincter relaxation and the absence of cholinesterase reenergizers are independent risk factors for combined shock in patients with acute dichlorvos poisoning.
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Human cystic echinococcosis, caused by infection with the larval stage of Echinococcus granulosus, and alveolar echinococcosis, caused by the larval form of E. multilocularis, are known to be important public health problems in western China. Echinococcus shiquicus is a new species of Echinococcus recently described in wildlife hosts from the eastern Tibetan plateau and its infectivity and/or pathogenicity in humans remain unknown. In the current study, parasite tissues from various organs were collected post-operatively from 68 echinococcosis patients from Sichuan and Qinghai provinces in eastern China. The tissues were examined by histopathology and genotyped using DNA sequencing and PCR-RFLP. Histopathologically, 38 human isolates were confirmed as E. granulosus and 30 as E. multilocularis. Mitochondrial cob gene sequencing and PCR-RFLP with rrnL as the target gene confirmed 33 of 53 of the isolates to have the G1 genotype of sheep/dog strain of E. granulosus as the only source of infection, while the remaining 20 isolates were identified as E. multilocularis. No infections were found to be caused by E. shiquicus. Additionally, 5 of 20 alveolar echinococcosis patients were confirmed to have intracranial metastases from primary hepatic alveolar echinococcosis lesions. All these cases originated from four provinces or autonomous regions but most were distributed in Sichuan and Qinghai provinces, where high prevalence rates of human alveolar echinococcosis and cystic echinococcosis were previously documented.
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Equinococosis/genética , Echinococcus granulosus/genética , Echinococcus multilocularis/genética , Adolescente , Adulto , Animales , Niño , China , Perros , Equinococosis/clasificación , Equinococosis/patología , Echinococcus granulosus/aislamiento & purificación , Echinococcus granulosus/parasitología , Echinococcus multilocularis/aislamiento & purificación , Echinococcus multilocularis/parasitología , Femenino , Genotipo , Humanos , Masculino , Reacción en Cadena de la Polimerasa/métodos , Especificidad de la EspecieRESUMEN
OBJECTIVE@#To investigate the detection rate and hematologic phenotype of HKαα thalassemia in south Guangxi, in order to provide reference for the prevention and control of thalassemia and prenatal and postnatal care consultation in this region.@*METHODS@#Gene testing was performed on pre-marital medical examinations, pre-pregnancy eugenic health examinations, prenatal examinations and hospitalized thalassemia-positive persons in south of Guangxi, and the results were analyzed.@*RESULTS@#A total of 183 190 thalassemia patients were included in this study, the age was mainly concentrated in 26-35 years old (101 709 cases, accounting for 55.521%), and 40 HKαα mutations were detected, detection rate was 0.022%, including 5 cases in Nanning, 22 cases in Qinzhou, 2 cases in Fangchenggang, 11 cases in Beihai. A total of 29 ethnic groups were included in the survey, but HKαα gene was observed only in Han nationality (0.0380%) and Zhuang nationality (0.0068%). A total of 8 genotypes carrying HKαα mutations were detected in this study ( HKαα/--SEA, βN/ βN, HKαα/αα, β-28/ βN, HKαα/αα, β-50/ βN, HKαα/αα, βCD17/ βN, HKαα/αα, βCD27/28/β N, HKαα/αα, βCD41-42/ βN, HKαα/αα, βCD71-72/ βN, and HKαα/αα, βN/ βN). Except for most cases with HKαα/αα, βN/ βN genotypes with no significant changes in the hematological indexes, mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) of other genotypes were decreased, showing microcytic hypochromic performance, mild anemia or no anemia.@*CONCLUSION@#HKαα carrier is often misdiagnosed as -α3.7 carrier, which easily leads to missed diagnosis or misdiagnosis. Therefore, it is necessary to continuously improve the diagnostic level of laboratory testing personnels and genetic counselors to avoid unnecessary interventional puncture operations and birth of children with moderate and severe thalassemia.
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Niño , Femenino , Embarazo , Humanos , Adulto , Talasemia beta/genética , Talasemia alfa/genética , China , Genotipo , Fenotipo , MutaciónRESUMEN
In this study, we investigated the effect of Cigu Xiaozhi formula on HSC-T6 activity in hypoxic microenvironment based on network pharmacology and computer-aided drug design, and predicted and verified its possible targets and related signaling pathways. The potential active components and targets of Cigu Xiaozhi formula were screened by searching Traditional Chinese Medicine Systems Pharmacology Database and Analysis Platform (TCMSP), Encyclopaedia of Traditional Chinese Medicine (ETCM) and Bioinformatics Analysis Tool for Molecular Mechanism of Traditional Chinese Medicine (BATMAN-TCM) databases, and the liver fibrosis related targets retrieved from Gene Cards and Pharm GK database were integrated to obtain the potential targets of Cigu Xiaozhi formula in the treatment of liver fibrosis. GO enrichment analysis and KEGG signaling pathway enrichment analysis were performed on Omic Share platform, and Cytoscape software was used to construct the "potential active ingredient-key target-pathway" network. The active components and target proteins were subjected to molecular docking analysis by Auto Dock software. According to the results of molecular dynamics simulation and binding free energy calculation, the top 5 active components with degree were scored. The active components stigmasterol and β-sitosterol were subjected to molecular docking. CoCl2 was used to induce HSC-T6 cells to construct hypoxia model in vitro. The cell viability was detected by CCK-8 assay, and the optimal time and concentration of hypoxia model of HSC-T6 cells was determined to be 100 µmol·L-1 CoCl2 for 24 h. Under hypoxia condition, HSC-T6 cells were activated, the wound healing rate was significantly increased, and the fluorescence signal of activation marker protein α-smooth muscle actin (α-SMA) was significantly enhanced. However, 6% drug-containing serum could inhibit the activation of HSC-T6 cells, and the wound healing rate was significantly decreased, and the fluorescence signal of α-SMA was significantly weakened. Further studies showed that the expressions of hypoxia-inducible factor-1α (HIF-1α), α-SMA and key proteins of Hedgehog (Hh) signaling pathway in HSC-T6 cells were up-regulated under hypoxia, while the expressions of HIF-1α, α-SMA, Patched-1 (Ptch-1) and glioma related oncogene homology-1 (Gli-1) were down-regulated in 6% drug-containing serum group, the YC-1 group and the cyclopamine group. These results indicated that HIF-1α and Hh signaling pathways were involved in the activation of HSC-T6 cells, and the traditional Chinese medicine Cigu Xiaozhi formula could inhibit the activation of HSC-T6 cells, and the mechanism may be related to the inhibition of HIF-1α expression and the blocking of Hh signaling pathway. In conclusion, Cigu Xiaozhi formula can inhibit the activation of HSC-T6 cells by directly acting on HIF-1α and Hh signaling pathway, and exert an anti-hepatic fibrosis effect. The animal experimental protocol has been reviewed and approved by Laboratory Animal Ethics Committee of Gansu University of Chinese Medicine, in compliance with the Institutional Animal Care Guidelines.
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Objective: To analyze the difference of application methods and effects of local flap in small and medium-sized defects of different aesthetic subunits of nose, in order to provide reference for clinical work. Methods: A retrospective analysis was made on 59 patients with external nasal masses and scars who underwent surgical treatment in the Department of Aesthetic Plastic Surgery of the Affiliated Hospital of Qingdao University from July 1, 2021 to January 30, 2022, including 27 females and 32 males, aged 15 to 69 years. Using Likert scale, the repair methods and effects of local flap for nasal soft tissue defects were evaluated and summarized from three aspects of texture, flatness and scar concealment. GraphPad Prism 5.0 software was used for data statistics and analysis. Results: The use of skin flaps to repair small and medium-sized areas of the nose could achieve satisfactory results. For patients with different subunits, in terms of skin flatness and scar concealment degree in the operation area, patients' satisfaction with the dorsal and lateral nasal areas was higher than that of the alar and tip areas, respectively (F=6.40, P=0.001; F=10.57, P<0.001). For patients with different skin flap repair methods, the satisfaction of patients with Z-plasty and Dufourmentel skin flap was higher than that of other skin flap repair methods (F=4.38, P=0.002), and the satisfaction of patients with Dufourmentel skin flap was the highest in the degree of scar concealment (F=2.57, P=0.038). Conclusions: In the small and medium-sized defects of the nose, the use of multiple local flaps can achieve good cosmetic effects and functional recovery. The operator should select the appropriate flap repair method according to the characteristics of different aesthetic subunits of the nose.
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OBJECTIVE@#To investigate the gene mutation and genotype distribution of thalassemia in the population of childbearing age in Chongzuo area of Guangxi.@*METHODS@#Six α-thalassemia and 17 β-thalassemia gene mutations common in Chinese were detected by gap-polymerase chain reaction (gap-PCR) combined with agarose gel eletrophoresis and reserve dot bolt hybridization in 29 266 cases of child-bearing age suspected of thalassemia.@*RESULTS@#A total of 19 128 (65.36%) cases were identified with thalassemia. The detection rate of α-thalassemia, β-thalassemia and α-combining β-thalassemia was 45.25% (13 242/29 266), 15.47% (4 526/29 266) and 4.65% (1 360/29 266), respectively. A total carrying rate of 8 kinds of α-thalassemia gene mutations was 26.74% (15 649/58 532), including 12.51% for --SEA, followed by 5.70% for -α3.7, and 0.24% for --Thai. Among 32 α-thalassemia genotypes, the most common five were --SEA/αα, -α3.7/αα, αCSα/αα, -α4.2/αα and αWSα/αα, accounting for 47.27%, 18.31%, 8.56%, 8.52% and 7.91%, respectively, as well as 0.97% for --Thai/αα. A total carrying rate of 13 kinds of β-thalassemia gene mutations was 10.07% (5 897/58 532), including 3.63% for CD41-42, followed by 2.55% for CD17, and 0.003% for -50 (G>A). Among 17 β-thalassemia genotypes, the most common six were CD41-42/N, CD17/N, CD71-72/N, CD26/N, 28/N and IVSI-1/N, accounting for 36.15%, 25.81%, 9.43%, 8.18%, 8.09% and 7.75%. The homozygous genotype CD26/CD26 [hemoglobin (Hb): 121 g/L] and -28/-28 (Hb: 56 g/L) were respectively detected in one case, and double heterozygous genotype were detected in 5 cases, including 3 cases of CD41-42/CD26 (Hb: 41 g/L, 51 g/L, 63 g/L, respectively), 1 case of -28/IVSI-1 (Hb: 53 g/L), and 1 case of CD71-72/CD26 (Hb: 89 g/L), in which patients with moderate or severe anemia had a history of blood transfusion. Among 104 α-combining β-thalassemia genotypes, the most common were --SEA/αα, -α3.7/αα combining CD41-42/N and --SEA/αα combining CD17/N, accounting for 12.13%, 9.63% and 9.26%, respectively. In addition, 1 case of --SEA/-α3.7 combining -28/IVSI-1 (Hb: 83 g/L) and 1 case of -α3.7/αα combining CD41-42/ CD41-42 (Hb: 110 g/L) were detected without history of blood transfusion, while 1 case of αWSα/αα combining CD41-42/CD17 (Hb: 79 g/L) and 1 case of --SEA/αα combining CD17/-28 (Hb: 46 g/L) were detected with history.@*CONCLUSIONS@#The detection rate of thalassemia genes is high and the mutations are diverse in the population of childbearing age in Chongzuo area of Guangxi. The common deletion genotype is --SEA/αα in α-thalassemia and CD41-42/N in β-thalassemia, and deletion genotype --Thai is not rare. There is a certain incidence of intermediate and severe β-thalassemia, and most patients require transfusion therapy. The results are beneficial for genetic consultation and intervention of thalassemia.
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Humanos , Talasemia beta/genética , Talasemia alfa/genética , Dipeptidil Peptidasa 4/genética , China/epidemiología , Genotipo , MutaciónRESUMEN
ObjectiveTo investigate the prevalence rate and influencing factors of sleep insufficiency in medical students with migraine, and to provide a reference for alleviating the sleep problems in medical students. MethodsFrom July 2018 to July 2019, a random cluster sampling method was implemented to choose 546 medical students who met the diagnostic criteria of the International Classification of Headache Disorders, third edition (ICHD-3) for migraine in North Sichuan Medical College. Students were divided into sleep sufficiency group (n=367) and sleep insufficiency group (n=179) based on whether the nightly sleep duration was more than 6 hours. General demographic and clinical data of medical students were collected. Pittsburgh Sleep Quality Index (PSQI) was used to assess the sleep quality. Hamilton Anxiety Scale (HAMA) and Hamilton Depression Scale-24 item (HAMD-24) were used to evaluate the anxiety and depression states. Visual Analogue Scale (VAS) was adopted to assess the pain degree, and the 6-item Headache Impact Test Questionnaire (HIT-6) was applied to evaluate the impact of headache on daily life. Then Logistic regression analysis was conducted to screen the influencing factors of sleep insufficiency in medical students with migraine. ResultsAmong 546 medical students with migraine, 179(32.78%) had sleep insufficiency. There were significant differences in age (t=2.107), frequency of headache attacks (Z=-2.972), anxiety status (χ²=14.053), depression status (χ²=10.773), total score of PSQI (t=-13.247) and sleep quality (χ²=94.754) between sleep sufficiency group and sleep insufficiency group (P<0.05 or 0.01). Correlation analysis showed that sleep duration in migraine patients was negatively correlated with age (r=-0.100, P<0.01), and positively correlated with frequency of headache attacks, anxiety status, and depression status (r=0.135, 0.169, 0.139, P<0.01). Multivariate Logistic regression analysis denoted that age (OR=0.860, 95% CI: 0.743~0.996, P=0.045), frequency of headache attacks (OR=1.051, 95% CI: 1.006~1.098, P=0.026) and depression status (OR=1.712, 95% CI: 1.024~2.861, P=0.040) were influencing factors of sleep insufficiency in medical students with migraine. ConclusionMedical students with migraine suffer a high prevalence rate of sleep insufficiency, moreover, the frequency of headache attack and depression status are risk factors, and age is a protective factor for sleep insufficiency in medical students with migraine.
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OBJECTIVES@#To study the characteristics of amino acid metabolism in preterm infants in Guangxi, China.@*METHODS@#A retrospective analysis was performed on the medical data of 30 757 neonates who underwent the screening for inherited metabolic diseases and had negative results in Guangxi Neonatal Disease Screening Center from 2018 to 2020. Among these neonates, there were 28 611 normal full-term infants (control group) and 2 146 preterm infants (preterm birth group). According to gestational age, the preterm infants were further divided into four groups: very preterm (n=209), moderately preterm (n=307), and late preterm group (n=1 630). According to birth weight, they were divided into three groups: very low birth weight group (n=161), low birth weight group (n=1 085), and normal birth weight group (n=900). According to blood collection time, they were divided into three groups: 3-7 days group (n=1 664), 8-14 days group (n=314) and 15-28 days group (n=168). Tandem mass spectrometry was performed to measure the levels of 11 amino acids in dried blood spots, which were then compared between groups.@*RESULTS@#After adjustment for confounding factors, there were significant differences in the levels of 11 amino acids among different gestational age groups (P<0.05), and significant differences were observed in the levels of the 11 amino acids between the control group and the various preterm groups (except for citrulline and methionine in the late preterm group). There were significant differences in the levels of 11 amino acids among different birth weight groups (P<0.05). Except for ornithine, there were significant differences in the levels of other amino acids among the different blood collection time groups (P<0.05).@*CONCLUSIONS@#Gestational age, birth weight and blood collection time all affect amino acid metabolism in preterm infants in Guangxi, China. This provides a basis for the laboratory to establish the reference standard and clinical interpretation of blood amino acid levels in preterm infants, and to improve the nutritional metabolism of preterm infants.
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Humanos , Lactante , Recién Nacido , Aminoácidos , China , Edad Gestacional , Recien Nacido Prematuro , Recién Nacido de muy Bajo Peso , Nacimiento Prematuro , Estudios RetrospectivosRESUMEN
Objective:To develop and validate a preoperative prediction model based on laboratory parameters in differentiating intrahepatic cholangiocarcinoma (ICC) from hepatocellular carcinoma (HCC).Methods:Data from 833 patients with primary liver cancers treated at the First Affiliated Hospital of Nanjing Medical University between January 2016 and May 2020 were retrospectively analyzed. There were 652 males and 181 females, aged (59.0±11.1) years, with 649 patients diagnosed to have HCC and 184 patients ICC. Based on the different admission time, they were divided into a development cohort ( n=577) and a validation cohort ( n=256). Logistic regression analysis was used to identify independent differential factors which were then included in the nomogram. The discrimination and calibration ability of the nomogram were evaluated by using concordance indexes (C-index) and calibration curves. Results:Female ( OR=4.989, 95% CI: 2.547-9.772), hepatitis B surface antigen positivity ( OR=0.144, 95% CI: 0.074-0.279), α-fetoprotein (21-399 ng/ml, OR=0.142, 95% CI: 0.072-0.283; ≥400 ng/ml, OR=0.023, 95% CI: 0.006-0.095), carcinoembryonic antigen (>4.7 ng/ml, OR=2.667, 95% CI: 1.352-5.261) and carbohydrate antigen 199 >39 ng/ml ( OR=11.019, 95% CI: 5.739-21.159) were independent differential factors for ICC. A nomogram was established by incorporating these 5 factors. The C-indexes were 0.942 (95% CI: 0.919-0.965) and 0.949 (95% CI: 0.914-0.985) in the development and validation cohorts, respectively. Calibration curves showed good agreement between the predicted risk by the nomogram and real outcomes. Conclusion:In this study, a preoperative nomogram for differential diagnosis between ICC and HCC was established. The model could aid clinicians in clinical treatment decision making.
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In this study, graphene oxide reinforced regenerated cellulose/polyvinyl alcohol (GO-RCE/PVA) ternary hydrogels were successfully prepared via a repeated freezing and thawing method in NaOH/urea aqueous solution. The effect of GO content on the mechanical properties, swelling behavior, water content of composite hydrogels was investigated. It was found that the mechanical properties of GO-RCE/PVA ternary hydrogels were largely enhanced relative to RCE/PVA hydrogels. With the addition of 1.0wt% GO, the tensile strength was increased by 40.4% from 0.52MPa to 0.73MPa, accompanied by the increase of the elongation at break (from 103% to 238%). Meanwhile, GO-RCE/PVA ternary hydrogels performed the excellent pH-sensitivity, and the higher pH leaded to higher swelling ratio. With 0.8wt% GO loading, the swelling ratio of GO-RCE/PVA ternary hydrogel was improved from 150% (pH=2) to 310% (pH=14). In addition, a slight increase in the water content of the ternary hydrogel was achieved with increasing concentrations of GO. It is believed that this novel ternary hydrogels is a promising material in the application of biomedical engineering and intelligent devices.
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Celulosa/química , Grafito/química , Alcohol Polivinílico/química , Concentración de Iones de Hidrógeno , Óxidos/química , Hidróxido de Sodio/química , Resistencia a la Tracción , Urea/química , Agua/químicaRESUMEN
Objective:To observe the effect of Yiqi Yangyin prescription on lipid metabolism in type 2 diabetes rat model induced by high fat diet combined with intraperitoneal injection of streptozocin (STZ), and explore its mechanism in regulation of lipid metabolism. Method:The rats were fed with high-fat diet for 4 weeks, and intraperitoneal injection of STZ was provided to establish diabetes model. The diabetic rats were randomly divided into model group, Yiqi Yangyin prescription high dose group, medium dose group and low dose group (9.00, 4.50, 2.25 g·kg<sup>-1</sup>) and metformin group (0.20 g·kg<sup>-1</sup>). Another blank control group was set up. The high, medium and low dose groups were given with different oral doses of Yiqi Yangyin prescription granules, metformin was given in metformin group, the model group and the blank group received the same volume of normal saline. Intragastric administration was given for three weeks, and then the weight and blood glucose were measured. Automatic biochemical analyzer was used to detect triglyceride (TG), total cholesterol (TC), low density lipoprotein cholesterol (LDL-C), high density lipoprotein cholesterol (HDL-C), aspartate aminotransferase (AST), alanine aminotransferase (ALT), alkaline phosphatase (ALP), and content of total protein (TP). Hematoxylin-eosin (HE) staining was used to observe the pathological changes of liver tissues in each group. Periodic acid-schiff stain (PAS) staining was used to observe the pathological changes of liver glycogen. The lipid changes of liver tissues were observed by oil red O staining. The expression of adenosine monophosphate activated protein kinase (AMPK)/ sterol regulatory element binding protein 1c (SREBP1c)/acetyl-coenzyme A carboxylase (ACC1)/peroxisome proliferator activated re-ceptor <italic>α</italic> (PPAR<italic>α</italic>) pathway in liver tissues was observed by Western blot. Result:Compared with the blank group, TG, CHO, LDL-C, AST, ALT and ALP significantly increased and HDL-C significantly decreased in the model group (<italic>P</italic><0.05, <italic>P</italic><0.01). Compared with the model group, TG and LDL-C contents significantly decreased (<italic>P</italic><0.05, <italic>P</italic><0.01)and LDL-C contents significantly increased in Yiqi Yangyin prescription groups (<italic>P</italic><0.05). Histomorphology showed that Yiqi Yangyin prescription significantly reduced the degree of hepatocyte intercellular vacuoles and steatosis in liver, and significantly reduced the lipid area of liver tissue. Compared with the blank group, the protein expression levels of p-AMPK<italic>α</italic>, PPAR<italic>α</italic>, SREBP-1 (plasma) in the liver tissues significantly decreased in the model group, but such expression levels increased after treatment with Yiqi Yangyin prescription (<italic>P</italic><0.05, <italic>P</italic><0.01), compared with the blank group, the protein expression levels of p-ACC1 and SREBP-1 (nuclear) significantly increased (<italic>P</italic><0.01) in model group, but such expression significantly decreased after treatment with Yiqi Yangyin prescription (<italic>P</italic><0.05, <italic>P</italic><0.01). Conclusion:Yiqi Yangyin prescription can significantly reduce blood lipid in the diabetic rats caused by high-fat feed combined with STZ. The decrease of blood lipid in the type 2 diabetes rats may be related to the influence on AMPK/ACC1/SREBP-1/PPAR pathway in rat liver.
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The risk of cardiovascular diseases is significantly increased in cancer patients receiving chemotherapy or radiotherapy. Recent evidences suggested that cardiac dysfunction and subsequent heart failure are mainly caused by vascular toxicity rather than myocardial toxicity. However, not all of the vascular toxicity of cancer therapies can be explained by obstructive coronary artery disease. In the past few decades, it has been found that myocardial ischemia may be caused by structural or functional disorders of the complex vascular network that cannot be seen by coronary angiography, known as coronary microvascular dysfunction (CMD). There is growing evidences that cancer therapy-related cardiovascular dysfunction (CTRCD) and CMD have many common pathophysiological mechanisms. This paper elucidates the relationship between CTRCD and CMD from the pathophysiological perspective, providing reference for exploring new diagnostic methods and treatment strategies of cardiovascular diseases.
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With the outbreak of novel coronavirus pneumonia, Beijing You'an Hospital has become one of the three infectious disease specialist hospitals designated to treat patients of such pneumonia. Under the premise of comprehensively implementing various emergency treatment tasks and ensuring the normal operation of other wards, the Nursing Department has put in place emergency plans and deployed due manpower for rapid response, timely personnel deployment, and reasonable reserve echelon structure. These measures have been taken as required by the patients’ numbers, critical conditions, disease diagnosis, and the guidelines of treatment and protection. While ensuring the completion of treatment work, we manage to leverage nursing human resources in a scientific, standardized and maximized efficiency manner, to ensure the quality of nursing, and the physical and mental health of nursing staff.