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OBJECTIVE@#To explore the serological feature and molecular mechanism for a case with A307 subgroup of the ABO blood group system.@*METHODS@#Serological assay was carried out to determine the ABO blood group of the proband and his family members. Genotypes for exons 1 to 7 of the ABO gene were determined with sequence-specific primer polymerase chain reaction (SSP-PCR) and direct sequencing. The impact of the variant on the stability of alpha-1,3-N-acetylgalactosaminyltransferase (GTA) was predicted through construction of a 3D molecular model.@*RESULTS@#The proband, his brother and daughter were diagnosed with Aend phenotype by serological analysis. Their ABO genotype was determined as A307/O02, with heterozygous c.467C>T (p.P156L) and c.745C>T (p.R249W) variants identified in exon 7 of the ABO gene. Molecular modeling suggested that the p.R249W variant may alter the number of hydrogen bonds between the amino acids. The protein was predicted to have a decreased Δ Δ G value of thermodynamic stability.@*CONCLUSION@#The p.R249W variant may give rise to the A307 subgroup by reducing the stability of the GTA enzyme, leading to serological features of Aend phenotype.
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Objective To compare the effects of sevoflurane and propofol anesthesia on endothelial glycocalyx degradation in the patients undergoing abdominal surgery.Methods Sixty American Society of Anesthesiologists physical status Ⅰ or Ⅱ patients of both sexes,aged 25-75 yr,weigbing 45-80 kg,scheduled for elective open colon or rectal surgery,were divided into 2 groups (n =30 each) using a random number table method:sevoflurane anesthesia group (group S) and propofol anesthesia group (group P).In group S,1.5％-2.5％ sevoflurane was inhaled for maintenance of anesthesia.In group P,propofol was intravenously infused at 50-150 μg · kg-1 · m-1 to maintain the bispectral index value at 40-60.The concentrations of heparan sulfate (HS),syndecan-1 and vascular cell adhesion molecule-1 (VCAM-1) in serum were determined after tracheal intubation (T0),at 1 h after skin incision (T1),at 2 h after skin incision (T2),at the end of operation (T3) and at 24 h after operation (T4).Blood gas analysis and blood biochemical test were performed at T0 and T4,and strong ion gap (SIG) was calculated.Results Compared with the baseline at T0,the concentrations of serum HS at T2-4 and syndecan-1 at T3-4 and SIG at T4 were significantly increased,and the concentrations of serum ALB at T4 were decreased in S and P groups (P＜0.05).Compared with group P,the concentrations of serum HS at T3,4 and syndecan-1 at T4 and SIG at T4 were significantly decreased,the concentrations of serum ALB at T4 were increased (P＜0.05),and no significant change was found in the serum concentrations of VACM-1 and lactate in group S (P＞0.05).Conclusion Compared with propofol anesthesia,sevoflurane anesthesia is more helpful in decreasing endothelial glycocalyx degradation and in reducing vascular endothelial damage in the patients undergoing abdominal surgery.
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<p><b>OBJECTIVE</b>To explore the molecular mechanism of a case of ABO discrepancies based on the results of blood group serology.</p><p><b>METHODS</b>Five cases of the two-generation pedigrees were analyzed. ABO genotypes were determined using serological tests. DNA sequence analysis was performed on exon 6, exon 7 and intron 3 of the 5 cases to confirm the genotypes of a proband with B subgroup and 4 family members.</p><p><b>RESULTS</b>There were 3 cases of subgroup AB3 and 1 case of subgroup B3 among the 5 family members. The genotypes were identified as A102/B303 and O02/B303, respectively. B303 differed from B101 by intron 3 point mutation (intron3 + 5G>A).</p><p><b>CONCLUSION</b>The point mutation of intron 3 (intron 3+5G>A) is specific in B303.</p>
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Objective To evaluate the role of heparanase in endotoxemia-induced destruction of vascular endothelial glycocalyx in rats.Methods Forty-eight pathogen-free male Sprague-Dawley rats, aged 8-10 weeks, weighing 200-250 g, were randomly divided into 3 groups (n=16 each) using a random number table: control group (group C), lipopolysaccharide (LPS) group (group L) and LPS+ heparin group (group LH).Endotoxemia was induced by intravenous LPS 15 mg/kg in L and LH groups, and heparin sodium 100 U · kg-1 · h-1 was infused simultaneously in group LH.At 3 and 6 h after LPS injection, blood samples were collected from the femoral vein for determination of the serum concentrations of serum heparin sulfate (HS), syndecan-1, E-selectin and intercellular adhesion molecule-1 (ICAM-1) concentrations.The rats were then sacrificed, and lungs were removed for microscopic examination and for determination of wet/dry lung weight ratio (W/D ratio).Results Compared with group C, the serum HS, syndecan-1, E-selectin and ICAM-1 concentrations and W/D ratio were significantly increased in group L, and the serum HS and ICAM-1 concentrations were increased in group LH (P＜0.05).Compared with group L, the serum HS, syndecan-1, E-selectin and ICAM-1 concentrations and W/D ratio were significantly decreased in group LH (P＜0.05).The pathological changes of lungs were obvious in group L, and were significantly mitigated in group LH.Conclusion Heparanase is involved in endotoxemiainduced destruction of vascular endothelial glycocalyx in rats.
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Objective To study the clinical features bone marrow biopsy of secondary myelofibrosis(SMF).Methods 69 patients with secondary myelofibrosis were analyzed retrospectively,and the relationship between myelofibrosis degree and megakaryocyte count was analyzed. Results Analysis of 69 cases of patients with SMF, the original incidence included 20 cases (29.0 ％)of chronic myeloid leukemia (CML),14 (20.3 ％) cases of lymphoma,10 (14.5 ％) cases of acute myeloid leukemia (AML),10 (14.5 ％) cases of myelodysplastic syndrome (MDS),6 cases(8.7 ％)of acute lymphoblastic leukemia (ALL),4 cases of multiple myeloma (MM),3 cases of myeloproliferative neoplasms (MPN),2 cases of chronic lymphocytic leukemia (CLL).There was no significant difference of the mygakaryocytes’ count and association of myelofibrosis with it was found (r=0.024,P=0.848). Conclusion Various clinical diseases of blood system may associated with secondary myelofibrosis. Bone marrow biopsy can be used to initial diagnostics of malignant disease of hematological system patients.When cellular examination of bone marrow is dry tap or dilution, which means higher incidence of SMF. Bone marrow biopsy plays an important role in diagnosis of SMF.
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Objective To discuss the diagnosis and treatment of systemic lupus erythematosus(SLE)patients associated with pancreatic pleural effusion and pancreatic:panniculitis.Methods Retrospectively analyzed the clinical data,therapy and experiences.Results A 40-year-old female SLE patient associated with pancreatitis,huge pancreatic pseudocysts,pancreatic pleural effusion,pancreatic panniculitis.Abdominal computed tomography(CT)showed an edematous swelling of the pancreas and several pseudocysts,the biggest one measuring 230 mm×95 am.Markedly elevated amylase (11 327 U/L)was contained in the massive pleural effusion.Erythema nodosum tissue pathology revealed the pancreatic panniculitis.The pscudocyst did not completely resolve with high-dose steroid.Growth hormone release inhibiting hormone (GIH),ulinastatin,nasojejunal feeding,and it was later complicated by infection and rupture.After a surgical percutaneous drainage for the complicated pseudocyst,the clinical symptoms and signs were markedly improved.Conclusion This case shows the importance of performing eady drainage rather than conservative treatment for pancreatic pseudocyst in patients with lupus-associated pancreatitis.