ABSTRACT
To investigate the serological and genetic characteristics of para-Bombay patients in a hospital in Hunan Province. A retrospective analysis was conducted on the blood type results of 175 439 hospitalized patients born in Hunan Province from the Third Xiangya Hospital, Central South University from 2016 to 2021. Phenotypes of ABO blood group was analyzed by blood group serology, and molecular biological methods were used to analyze the genotype, including ABO genotyping by polymerase chain reaction-sequence specific primers (PCR-SSP) and fucosyltransferase 1 (FUT1) and fucosyltransferase 2 (FUT2) gene sequencing. The results showed that 3 cases of Ah and 1 case of Bh were detected. FUT1 sequencing showed that there were 2 cases of h3h3, 1 case of h1h1 and 1 case of h302h1, of which h302 (c.302C>T) was the first discovered mutation. FUT2 sequencing revealed that 4 cases were all Se357Se357. The pedigree study showed that the inheritance of para-Bombay blood group was consistent with autosomal dominant inheritance. In conclusion, the FUT1 gene mutations leading to para-Bombay blood group mainly include h3, h1 and h302, of which h3 mutation is the most common.
Subject(s)
Humans , Retrospective Studies , Genomics , Genotype , Galactoside 2-alpha-L-fucosyltransferase , Hospitals , Blood Group AntigensABSTRACT
To investigate the serological and genetic characteristics of para-Bombay patients in a hospital in Hunan Province. A retrospective analysis was conducted on the blood type results of 175 439 hospitalized patients born in Hunan Province from the Third Xiangya Hospital, Central South University from 2016 to 2021. Phenotypes of ABO blood group was analyzed by blood group serology, and molecular biological methods were used to analyze the genotype, including ABO genotyping by polymerase chain reaction-sequence specific primers (PCR-SSP) and fucosyltransferase 1 (FUT1) and fucosyltransferase 2 (FUT2) gene sequencing. The results showed that 3 cases of Ah and 1 case of Bh were detected. FUT1 sequencing showed that there were 2 cases of h3h3, 1 case of h1h1 and 1 case of h302h1, of which h302 (c.302C>T) was the first discovered mutation. FUT2 sequencing revealed that 4 cases were all Se357Se357. The pedigree study showed that the inheritance of para-Bombay blood group was consistent with autosomal dominant inheritance. In conclusion, the FUT1 gene mutations leading to para-Bombay blood group mainly include h3, h1 and h302, of which h3 mutation is the most common.
Subject(s)
Humans , Retrospective Studies , Genomics , Genotype , Galactoside 2-alpha-L-fucosyltransferase , Hospitals , Blood Group AntigensABSTRACT
OBJECTIVE@#To provide basic data for clinical application and individualized design of lumbar disc prostheses by measuring the anatomical parameters of lumbar intervertebral discs and endplates in healthy adults with CT three-dimensional reconstruction technology.@*METHODS@#A retrospective analysis was performed on 200 males and 200 females with normal lumbar spine who were admitted to the imaging center or outpatient department of the Second Affiliated Hospital of Xinjiang Medical University from September 2019 to December 2020. The age ranged from 20 to 60 years old, with an average of (40.61±11.22) years old. The measurement segment was L1-S1 intervertebral disc, and the measurement indicators included the axial anteroposterior diameter and transverse diameter of the intervertebral disc, sagittal anterior, middle and posterior height, coronal left and right height, intervertebral space angle, and transverse and anteroposterior diameters of the upper and lower endplates of each vertebral body.@*RESULTS@#①In terms of gender, the anatomical parameters of L1-S1 disc axial diameter, transverse diameter, sagittal anterior, middle and posterior height, left and right coronal height and intervertebral space angle were all higher in males than in females(P<0.05), and the anatomical parameters of upper and lower endplates of L1-S1 vertebral body were higher in males than in females(P<0.001). ②In comparison of sagittal height of anterior, middle and posterior intervertebral discs, the sagittal height of L1-L5 intervertebral discs was middle-high > anterior-high > posterior-high(P<0.001), while that of L5S1 intervertebral disc was anterior-high > middle-high > posterior-high (P<0.001). ③In the comparison of left and right coronal height, there was no statistical significance in the left and right coronal height of L1-S1 disc between male and female(P>0.05). ④The L1-S1 intervertebral spaces angle between male and female increased with the increase of vertebral body segments. ⑤The anterior and posterior diameters and transverse diameters of upper and lower of L1-S1 vertebral bodies endplates were height in males than in females(P<0.001).@*CONCLUSION@#The results suggest that gender differences should be considered in the design of adult lumbar disc prostheses. The anatomical parameters of the lumbar intervertebral disc varied with the increase of the vertebral body sequence, suggesting that different anatomical parameters of the intervertebral disc should be considered in the design of the artificial intervertebral disc, and the changes in the height of the sagittal position suggest that the design of the intervertebral disc should be wedge-shaped.
Subject(s)
Adult , Humans , Male , Female , Young Adult , Middle Aged , Retrospective Studies , Intervertebral Disc/diagnostic imaging , Lumbar Vertebrae/diagnostic imaging , Lumbosacral Region , Tomography, X-Ray ComputedABSTRACT
OBJECTIVE@#To explore the effect of mmu-circRNA_016901 on the regulation of radiation injury of bone marrow stem cells and its mechanism.@*METHODS@#Bone marrow stem cells were exposed to different dose of X-ray, then the expression level of mmu-circRNA_016901 in bone marrow cells treated with different doses of X-ray was detected. The luciferase reporter gene assay was used to confirm that miRNA1249-5p is the target of mmu-circRNA_016901, and RNA Binding Protein Immunoprecipitation was used to confirm that TGF-β3 is the targeted on miRNA1249-5p,the expression of TGF-β3 and cell proliferation were detected after the expression of mmu-circRNA_01690 was regulated.@*RESULTS@#When the irradiation dose<6 Gy, there were significant difference in the expression of mmn-circRNA-016901 after the bone marrow mesenchymal stem cells were treated by different doses of irradiation, which showed a statistically significant (P<0.05). The luciferase reporter gene detection and co-immunoprecipitation experiments confirmed that Mmu-circRNA_016901 could binds to miRNA1249-5p specifically, and overexpression of mmu-circRNA_016901 could regulate miRNA1249-5p negatively, which resulted in a significant increase in TGF-β3 expression and promoting of cell proliferation.@*CONCLUSION@#mmu-circRNA_016901 affects the expression of TGF-β3 through miRNA1249-5p, and thus participates in the regulation of the radiation damage mechanism of bone marrow mesenchymal stem cells.
Subject(s)
Bone Marrow Cells , Mesenchymal Stem Cells , RNA, Circular , Genetics , Radiation ToleranceABSTRACT
Gastrodin is a signature component of Gastrodiae Rhizoma. This article reviewed the research on the content differences of gastrodin in different kinds of Gastrodiae Rhizoma from factors such as growth environment and producing areas, cultivated varieties, growth and development stages, commodity specification grades and processing methods, and believed that the above factors had a certain influence on the gastrodin content in Gastrodiae Rhizoma. However, the lack of systematic research at present could not fully reveal its regularity, especially the mechanism of the influence of various factors on the gastrodin content, which needs to be clarified.
ABSTRACT
<p><b>BACKGROUND</b>The dyschromatoses are a group of disorders characterized by simultaneous hyperpigmented macules together with hypopigmented macules. Dyschromatosis universalis hereditaria (DUH) and dyschromatosis symmetrica hereditaria are two major types. While clinical and histological presentations are similar in these two diseases, genetic diagnosis is critical in the differential diagnosis of these entities.</p><p><b>METHODS</b>Three patients initially diagnosed with DUH were included. The gene test was carried out by targeted gene sequencing. All mutations detected on ADAR1 and ABCB6 genes were analyzed according to the frequency in control database, the mutation types, and the published evidence to determine the pathogenicity.</p><p><b>RESULTS</b>Family pedigree and clinical presentations were reported in 3 patients from two Chinese families. All patients have prominent cutaneous dyschromatoses involving the whole body without systemic complications. Different pathogenic genes in these patients with similar phenotype were identified: One novel mutation on ADAR1 (c. 1325C>G) and one recurrent mutation in ABCB6 (c. 1270T>C), which successfully distinguished two diseases with the similar phenotype.</p><p><b>CONCLUSION</b>Targeted gene sequencing is an effective tool for genetic diagnosis in pigmentary skin diseases.</p>
Subject(s)
Adolescent , Child , Female , Humans , Male , ATP-Binding Cassette Transporters , Genetics , Adenosine Deaminase , Genetics , Asian People , Diagnosis, Differential , Genetic Predisposition to Disease , Genetics , Pedigree , Pigmentation Disorders , Diagnosis , Genetics , RNA-Binding Proteins , Genetics , Skin Diseases, Genetic , Diagnosis , GeneticsABSTRACT
This study was purposed to explore the suitable ratio between fresh frozen plasma and erythrocyte by retrospective analysis of coagulation in patients with massive blood transfusion. The clinical data of 151 cases with massive blood transfusion from January 2011 to January 2013 were analyzed retrospectively. According to coagulation, patients were divided into coagulation normal group (138 cases) and coagulation dysfunction group (13 cases). Based on the ratio of 1:1 of fresh frozen plasma and erythrocyte, the patients were divided into high plasma group(2:1), medium plasma group (1:1) and low plasma (<1:1) subgroups. Coagulation was detected before and after 24 h of massive blood transfusion. The results showed that prothrombin time (PT), activated partial thromboplastin time (APTT) and thrombin time (TT) were prolonged, fibrinogen (FIB) level decreased significantly (all P < 0.05) in the low plasma subgroup of coagulation normal group after massive blood transfusion 24 h; the high plasma and the medium plasma group of coagulation normal group had no significant changes in coagulation (P > 0.05); prothrombin time, activated partial thromboplastin time, thrombin time and fibrinogen level in the medium plasma and low plasma subgroup of coagulation dysfunction group after massive transfusion was still in abnormal levels (P > 0.05), coagulation function in high plasma subgroup was improved significantly (P < 0.05). It is concluded that the ratio of plasma to erythrocyte should be adjusted according to the patient's coagulation function during massive blood transfusion, the ratio between fresh frozen plasma and erythrocyte is recommended to be 2:1 in patients of coagulation dysfunction in order to improve the patient's coagulation function and to reduce the incidence of adverse event, the ratio of fresh frozen plasma to erythrocyte is recommended to be 1:1 in patients with normal coagulation so as to reduce the dilutional coagulopathy and hypervolemia of blood.
Subject(s)
Adult , Aged , Female , Humans , Male , Middle Aged , Young Adult , Blood Coagulation , Blood Coagulation Disorders , Blood Transfusion , Methods , Erythrocytes , Plasma , Retrospective Studies , Transfusion ReactionABSTRACT
<p><b>BACKGROUND</b>Multiple epiphysis dysplasia (MED) is a common skeletal dysplasia with a significant locus heterogeneity. In the majority of clinically defined cases, mutations have been identified in the gene encoding cartilage algometric matrix protein (COMP).</p><p><b>METHODS</b>Five patients were included in the study. Linkage analysis and mutation analysis of the COMP gene were conducted in the patients and their family members.</p><p><b>RESULTS</b>We have identified a novel mutation in axon 14 of COMP gene in the family.</p><p><b>CONCLUSIONS</b>This mutation produced a severe MED phenotype with marked short stature, early onset osteoarthritis, and remarkable radiographic changes. Our results extended the range of disease-causing mutations in COMP gene and contributed more information about relationship between mutations and phenotype.</p>
Subject(s)
Adolescent , Female , Humans , Male , Asian People , Cartilage Oligomeric Matrix Protein , Genetics , Osteochondrodysplasias , Genetics , Pedigree , Point Mutation , GeneticsABSTRACT
<p><b>BACKGROUND</b>Pseudoachondroplasia (PSACH) is an autosomal-dominant osteochondrodysplasia due to mutations in the gene encoding cartilage oligomeric matrix protein (COMP). Clinical diagnosis of PSACH is based primarily on family history, physical examination, and radiographic evaluation. There is evidence that decreased serum COMP concentration may serve as a diagnostic marker in PSACH. Here, we investigated the role of this gene and the serum COMP concentration in Chinese patients with PSACH.</p><p><b>METHODS</b>A family with three patients and a sporadic case were recruited. Genomic and phenotypic data were recorded. The diagnosis of PSACH was made on the base of clinical evaluation. The genomic DNA was extracted from peripheral blood leukocytes. The 8-19 exons and flanking intron-exon boundary sequences of COMP were amplified by polymerase chain reaction (PCR) and screened for mutation by direct DNA sequencing. Serum COMP concentrations of 4 patients and age-compatible control group of 20 unrelated healthy subjects were analyzed on the basis of an ELISA Kit for human cartilage oligomeric matrix protein.</p><p><b>RESULTS</b>A deletion (c.1447-1455del) was identified in exon 13 in the sporadic case. The mean serum COMP concentrations of four patients (3.12+/-2.28) were significantly lower than those of control group (10.86+/-2.21, P<0.05). There was no overlap in the distribution of serum COMP concentration between PSACH patients and controls.</p><p><b>CONCLUSIONS</b>Mutations in COMP gene are responsible for the PSACH. Serum COMP concentration may be suggested as an additional diagnostic marker to aid clinical findings in suspected cases of PSACH.</p>
Subject(s)
Child, Preschool , Female , Humans , Male , Cartilage Oligomeric Matrix Protein , Enzyme-Linked Immunosorbent Assay , Exons , Genetics , Extracellular Matrix Proteins , Blood , Genetics , Glycoproteins , Blood , Genetics , Matrilin Proteins , Mutation , Osteochondrodysplasias , Blood , Genetics , Pedigree , Polymerase Chain ReactionABSTRACT
<p><b>BACKGROUND</b>Autoimmune hepatitis (AIH) is a chronic inflammatory liver disease with unknown etiology. Programmed death 1 (PD-1) and its ligands (PD-L1 and PD-L2), B7-H1/PD-L1 and B7-DC/PD-L2, are new CD28-B7 family members that are involved in the regulation of immune responses. Previous observation suggests that PD-1 system plays an inhibitory role in regulating peripheral blood T cells, B cells and myeloid cells, thus their abnormality may be related to autoimmune diseases. This study aimed to explore the role of PD-1/PD-L1, L2 system in the pathogenesis of AIH.</p><p><b>METHODS</b>The mice model of experimental autoimmune hepatitis (EAH) was established in C57BL/6 mice and the expression levels of PD-1 and PD-L1, L2 in the murine liver and the cytokines, including interferon (IFN)-gamma, tumor necrosis factor (TNF)-alpha and interleukin (IL)-4 in the spleen were detected using reverse transcription-polymerase chain reaction (RT-PCR), and the results were compared with those of normal controls.</p><p><b>RESULTS</b>The expression levels of PD-1, PD-L1, PD-L2 mRNA were higher in EAH compared with normal controls (P < 0.05), the PD-L2/PD-1 ratio was relatively lower in EAH (EAH -0.08 +/- 0.35, normal controls 0.52 +/- 0.07, P = 0.009). In the EAH, the expression of the three cytokines were all upregulated compared with normal controls. PD-L1 had a positive correlation with the expression of IFN-gamma (r = 0.289, P < 0.05), while PD-L2 showed a positive correlation with both expressions of IL-4 (r = 0.378, P< 0.01) and IFN-gamma (r = 0.261, P < 0.05). While TNF-alpha showed no correlation with PD-L1 (r = 0.044, P = 0.736) or PD-L2 (r = 0.127, P = 0.335).</p><p><b>CONCLUSIONS</b>The expression of PD-1/PD-L1, L2 is upregulated in EAH and regulated by IFN-gamma and IL-4. PD-1 system may play an important role in the pathogenesis of AIH.</p>
Subject(s)
Animals , Mice , Antigens, Surface , Genetics , Apoptosis Regulatory Proteins , Genetics , B7-1 Antigen , Genetics , B7-H1 Antigen , Hepatitis, Autoimmune , Genetics , Interferon-gamma , Genetics , Interleukin-4 , Genetics , Membrane Glycoproteins , Genetics , Mice, Inbred C57BL , Peptides , Genetics , Programmed Cell Death 1 Ligand 2 Protein , Programmed Cell Death 1 Receptor , RNA, Messenger , Genetics , Reverse Transcriptase Polymerase Chain Reaction , Tumor Necrosis Factor-alpha , GeneticsABSTRACT
<p><b>OBJECTIVE</b>To study the effects of all factors during the process of urea encapsulation of gamma-linolenic acid on the purity and yield.</p><p><b>METHOD</b>To observe the material proportions, time, temperature and purity using single-factor and two-factor tests.</p><p><b>RESULT</b>Single-factor test showed that the optimal ratio of all materials (oil, urea and 95% ethanol) was 1:3:8. A 30% purity after single encapsulation process was obtained, at the best temperature range was - 15 degrees C-20 degrees C, for 24 hours. Two-factor test showed that the optimal ratio of oil, urea and ethanol was 1:3:8, where the concentration of ethanol was 90%-95%. The purity reached 90% or higher, with three-time encapsulation process.</p><p><b>CONCLUSION</b>An optimized process was identified where material ratios, encapsulation time, temperature, and ethanol concentrations were determined using single-factor and two-factor tests.</p>
Subject(s)
Ethanol , Fatty Acids, Essential , Chemistry , Linoleic Acids , Oenothera , Chemistry , Plant Oils , Plants, Medicinal , Chemistry , Technology, Pharmaceutical , Methods , Temperature , Urea , gamma-Linolenic AcidABSTRACT
<p><b>OBJECTIVE</b>To measure the saponification value and fatty acid formation of evening primrose oil, to study the effects of pH value on production yield and fatty acid formation during the saponification reaction, and to provide rationales for the selection of raw material, the enhancement of production yield of saponification, and the encapsulation of gamma-linolenic acid with urea.</p><p><b>METHOD</b>To measure fatty acid's formation with gas chromatographic method and to measure the saponification value.</p><p><b>RESULT</b>The content of gamma-linolenic acid is 7%-10% in evening primrose oil. The content of gamma-linolenic acid is inversely correlated with that of unsaturated fatty acid. The saponification value, the amount of KOH for saponification of evening primrose oil, and the pH value for subsequent isolations of oils are determined. From the measurement of fatty acids of evening primrose oil in two different cultivation locations, the content of gamma-linolenic acid is determined to be 7%-10%, unsaturated oils account for 90%.</p><p><b>CONCLUSION</b>The saponification value of evening primrose oil is between 180-200, pH value of isolated oil is 1.5-2.0 after saponification reaction. Fatty acids mainly include palmitic acid, stearic acid, oleic acid, linolic acid and gamma-linolenic acid.</p>