OBJECTIVE: To explore the serological and molecular genetic characteristics of a family with subtype B(A)06. METHODS: A neonatal hyperbilirubinemia patient who was treated at Henan Children's Hospital on June 15, 2023 due to "yellowing of the skin and gradual aggravation", and was found to have inconsistent ABO forward and reverse typing through blood type testing, was selected as the research subject. Six milliliters of peripheral blood were collected from the newborn and her family members (grandfather, grandmother, father, mother and aunt) respectively. ABO blood group identification was performed by the blood group serological method. Human genomic DNA was extracted using the nucleic acid extraction or purification reagent BT-01. ABO gene exons 2 to 7 were amplified by PCR. The PCR-specific products that were successfully amplified were sequenced by Sanger method. Taking ABO*A1.01 as the reference sequence, the ABO gene sequences of the newborn and her family members were analyzed to determine the ABO genotype. The procedures followed in this study were approved by the Ethics Committee of Henan Children's Hospital (Ethics No.: 2022-K-L036). RESULTS: The serological results of ABO blood group showed that the newborn, her grandfather, father and aunt were all incompatible with the forward and reverse typing. The blood group phenotype of the newborn was AwB or B(A), the blood group phenotype of the grandfather was A2B or B(A), the blood group phenotype of the father and aunt were A2B, and the blood group phenotype of the grandmother and mother were both O. The screening test results of hemolytic disease of the newborn showed that the free test detected IgG anti-A1 antibody, while the elution test, direct antiglobulin test and antibody screening results were all negative. The Sanger sequencing results showed that the newborn had variations of c.261delG, c.297A>G, c.526C>G, c.657C>T, c.703G>A, c.796C>A and c.930G>A. Her grandfather had variations of c.297A>G, C.526C>G, c.657C>T, c.703G>A, c.796C>A, c.803G>C and c.930G>A. Her grandmother had variations of c.106G>T, c.188G>A, c.189C>T, c.220C>T, c.261delG, c.297A>G, c.646T>A, c.681G>A, c.771C>T and c.829G>A. Her father and aunt had variations of c.106G>T, c.188G>A, c.189C>T, c.220C>T, c.261delG, c.297A>G, c.526C>G, c.646T>A, c.657C>T, c.681G>A, c.703G>A, c.771C>T, c.796C>A, c.829G>A and c.930G>A. Her mother had variations of c.106G>T, c.188G>A, c.189C>T, c.220C>T, c.261delG, c.297A>G, c.646T>A, c.681G>A, c.771C>T, and c.829G>A.The genotype of the newborn was ABO*BA.06/ABO*O.01.01, her grandfather was ABO*BA.06/ABO*B.01, her grandmother was ABO*O.01.02/ABO*O.01.02, her father and aunt were ABO*BA.06/ABO*O.01.02, and her mother was ABO*O.01.01/ABO*O.01.02. The ABO*BA.06 allele of the newborn, grandfather, father and aunt was caused by the c.803C>G variation in exon 7 based on the ABO*B.01 allele. The ABO*BA.06 allele can be stably inherited in this family. CONCLUSION The blood type of neonatal patients with B(A)06 subtype can be accurately determined by gene sequencing technology. If the forward typing is ≤ 3+ agglutination intensity in newborn ABO blood group identification, the reason should be carefully analyzed, and the molecular biology technology and family gene sequencing results should be used to jointly determine if necessary.
Humans ; ABO Blood-Group System/genetics* ; Female ; Pedigree ; Male ; Infant, Newborn ; Asian People/genetics* ; Genotype ; China ; Blood Grouping and Crossmatching ; Hyperbilirubinemia, Neonatal/blood* ; East Asian People

Objective:To evaluate the value of MOG-AR score and inflammatory indexes in predicting the recurrence risk in patients with myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD).Methods:The clinical data of 33 patients with MOGAD from June 2020 to January 2024 in Drum Tower Hospital Affiliated to Nanjing University Medicine School were retrospectively analyzed. For the MOGAD patients, the gender, age at onset ≥ 45 years, attack phenotype, status of immunotherapy and oral glucocorticoid time were recorded, and the MOG-AR score was calculated. All patients were followed up for 1 year, the status of recurrence was recorded, and the patients were divided into non-recurrence group and recurrence group. Additionally, 20 healthy subjects who underwent physical examination were selected as the healthy control group. The neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR) and monocyte-to-lymphocyte ratio (MLR) were calculated in the three groups, and the systemic immune-inflammation index (SII) and systemic inflammatory response index (SIRI) were evaluated.Results:Among the 33 patients with MOGAD, 19 patients had no recurrence within 1 year, and 14 patients had recurrence within 1 year, with a recurrence rate of 42.4%. The proportion of oral glucocorticoid time < 3 months and MOG-AR score in recurrence group were significantly higher than those in non-recurrence group: 6/14 vs. 0 and (9.93 ± 1.98) scores vs. (7.37 ± 2.24) scores, and there were statistical differences ( P<0.01); there were no statistical difference in gender composition, age at onset ≥45 years, attack phenotype and proportion of non-immunotherapy between the two groups ( P>0.05). The PLR and SIRI in recurrence group were significantly higher than those in healthy control group: 163.64 (100.42, 237.67) vs. 100.26 (88.57, 114.22) and 1.49 (0.82, 3.52) vs. 0.57 (0.47, 0.86), the NLR and SII in recurrence group and non-recurrence group were significantly higher than those in healthy control group: 3.64 (1.91, 7.53) and 2.85 (1.78, 4.67) vs. 1.62 (1.23, 2.18), 786.82 (533.90, 1 968.28) and 525.00 (370.89, 1 013.88) vs. 283.86 (263.43, 455.51), and there were statistical differences ( P<0.05); there were no statistical difference in PLR and SIRI between non-recurrence group and healthy control group ( P>0.05), there were no statistical difference in PLR, NLR, SII and SIRI between recurrence group and non-recurrence group ( P>0.05); there was no statistical difference in MLR among three groups ( P>0.05). Conclusions:The MOG-AR score can effectively predict the risk of MOGAD recurrence, providing a simple tool for the early identification of high-risk patients. It is recommended that the continuous oral glucocorticoid time should be ≥ 3 months to reduce the risk of recurrence. In addition, the significant elevation of PLR and SIRI may serve as potential indexes for predicting the recurrence of MOGAD.

Objective To investigate the relationship between the levels of serum suppressor of cytokine signaling 3(SOCS3),growth differentiation factor-15(GDF-15)and liver fibrosis in patients with type 2 dia-betes mellitus(T2DM)combined with non-alcoholic fatty liver disease(NAFLD).Methods A total of 320 patients with T2DM combined with NAFLD who were hospitalized in this hospital from May 2023 to May 2024 were selected as the study group,and another 320 patients with simple T2DM admitted during the same period were selected as the control group.The levels of serum SOCS3 and GDF-15 were determined by en-zyme-linked immunosorbent assay(ELISA).Pearson correlation analysis was used to analyze the correlation between SOCS3,GDF-15 levels and liver fibrosis indicators.Logistic regression analysis was used to analyze the factors affecting the degree of liver fibrosis.The receiver operating characteristic(ROC)curve was used to analyze the diagnostic value of serum SOCS3 and GDF-15 for the degree of liver fibrosis in patients.Results Compared with the control group,the levels of serum SOCS3,GDF-15,5,type Ⅲ procollagen peptide,laminin and type Ⅳ col-lagen in the study group were significantly increased(P＜0.05).There were statistically significant differ-ences in the levels of type Ⅲ procollagen peptide,laminin and type Ⅳ collagen between the mild to moderate group and the severe group(P＜0.05).Compared with the mild to moderate group,the levels of serum SOCS3 and GDF-15 in the severe group were significantly increased(P＜0.05).The results of Pearson corre-lation analysis showed that serum SOCS3 and GDF-15 in patients with T2DM combined with NAFLD were positively correlated with type Ⅲ procollagen peptide,laminin,and type Ⅳ collagen(P＜0.05).Serum SOCS3,GDF-1 5,type Ⅲ procollagen peptide,laminin and type Ⅳ collagen are risk factors affecting the degree of liver fibrosis in patients with T2DM combined with NAFLD(P＜0.05).The results of the ROC curve showed that the combined diagnosis of serum SOCS3 and GDF-15 for the degree of liver fibrosis in patients with T2DM complicated with NAFLD had the highest area under the curve(AUC),which was superior to the individual diagnosis of each(both P＜0.05),with a corresponding sensitivity of 69.08％and a specificity of 85.71％.The combined diagnosis of the degree of liver fibrosis in patients with T2DM complicated with NAFLD by serum SOCS3,GDF-15,type Ⅲ procollagen peptide,laminin,and type Ⅳ collagen had the highest AUC,which was superior to the individual diagnosis of each index(all P＜0.001),with a corresponding sensi-tivity of 89.47％and a specificity of 97.02％.Conclusion The levels of serum SOCS3 and GDF-15 are elevated in patients with T2DM combined with NAFLD,.The combined diagnosis of serum SOCS3,GDF-15,type Ⅲ procolla-gen peptide,laminin,and type Ⅳ collagen has a high value in the degree of liver fibrosis in patients.

Objective:To evaluate the value of MOG-AR score and inflammatory indexes in predicting the recurrence risk in patients with myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD).Methods:The clinical data of 33 patients with MOGAD from June 2020 to January 2024 in Drum Tower Hospital Affiliated to Nanjing University Medicine School were retrospectively analyzed. For the MOGAD patients, the gender, age at onset ≥ 45 years, attack phenotype, status of immunotherapy and oral glucocorticoid time were recorded, and the MOG-AR score was calculated. All patients were followed up for 1 year, the status of recurrence was recorded, and the patients were divided into non-recurrence group and recurrence group. Additionally, 20 healthy subjects who underwent physical examination were selected as the healthy control group. The neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR) and monocyte-to-lymphocyte ratio (MLR) were calculated in the three groups, and the systemic immune-inflammation index (SII) and systemic inflammatory response index (SIRI) were evaluated.Results:Among the 33 patients with MOGAD, 19 patients had no recurrence within 1 year, and 14 patients had recurrence within 1 year, with a recurrence rate of 42.4%. The proportion of oral glucocorticoid time < 3 months and MOG-AR score in recurrence group were significantly higher than those in non-recurrence group: 6/14 vs. 0 and (9.93 ± 1.98) scores vs. (7.37 ± 2.24) scores, and there were statistical differences ( P<0.01); there were no statistical difference in gender composition, age at onset ≥45 years, attack phenotype and proportion of non-immunotherapy between the two groups ( P>0.05). The PLR and SIRI in recurrence group were significantly higher than those in healthy control group: 163.64 (100.42, 237.67) vs. 100.26 (88.57, 114.22) and 1.49 (0.82, 3.52) vs. 0.57 (0.47, 0.86), the NLR and SII in recurrence group and non-recurrence group were significantly higher than those in healthy control group: 3.64 (1.91, 7.53) and 2.85 (1.78, 4.67) vs. 1.62 (1.23, 2.18), 786.82 (533.90, 1 968.28) and 525.00 (370.89, 1 013.88) vs. 283.86 (263.43, 455.51), and there were statistical differences ( P<0.05); there were no statistical difference in PLR and SIRI between non-recurrence group and healthy control group ( P>0.05), there were no statistical difference in PLR, NLR, SII and SIRI between recurrence group and non-recurrence group ( P>0.05); there was no statistical difference in MLR among three groups ( P>0.05). Conclusions:The MOG-AR score can effectively predict the risk of MOGAD recurrence, providing a simple tool for the early identification of high-risk patients. It is recommended that the continuous oral glucocorticoid time should be ≥ 3 months to reduce the risk of recurrence. In addition, the significant elevation of PLR and SIRI may serve as potential indexes for predicting the recurrence of MOGAD.

Objective To investigate the effect of blood glucose levels at admission on the outcomes and hemorrhagic transformation in patients with acute ischemic stroke (AIS) after intravenous thrombolysis. Methods From December 2013 to January 2017, patients with AIS treated with intravenous thrombolysis at the Department of Neurology, Xuzhou Central Hospital were enrolled retrospectively. According to the blood glucose levels on admission, they were divided into non-hyperglycemic group ( ≤8 mmol/L ) and hyperglycemic group ( > 8 mmol/L). The functional outcome was assessed with the modified Rankin Scale score at 90 d after onset, and 0-2 was defined as good outcome and > 2 was defined as poor outcome. From 24 h to 7 d after treatment, CT scan was performed again to determine whether there was intracranial hemorrhage or not. Multivariate logistic regression analysis was used to identify the independent influencing factors of outcomes after intravenous thrombolysis. Results A total of 323 patients with AIS were enrolled, including 237 (73. 4％) in the non-hyperglycemic group and 86 (26. 6％) in the hyperglycemic group; 238 (73. 7％) in the good outcome group, and 85 (26. 3％) in the poor outcome group; 25 (7. 7％) in the hemorrhagic transformation group, and 298 (92. 3％) in the non-hemorrhagic transformation group. Univariate analysis showed that there were significant differences in the proportions of patients with ischemic heart disease, atrial fibrillation, past history of stroke or TIA, as well as age, baseline National Institutes of Health Stroke Scale (NIHSS) score, and baseline blood glucose between the poor outcome group and the good outcome group (all P < 0. 05). There were significant differences in the proportion of hypertensive patients and baseline NIHSS score between the hemorrhagic transformation group and the non- hemorrhagic transformation group ( all P < 0. 05 ). Multivariate logistic regression analysis showed that hyperglycemia at admission (odds ratio [OR] 2. 239, 95％ confidence interval [CI] 1. 210-4. 143; P = 0. 010)and baseline NIHSS score (OR 3. 528, 95％ CI 2. 451-5. 078; P < 0. 001) were the independent influencing factors of poor outcome; hypertension (OR 0. 410, 95％ CI 0. 173-0. 972; P = 0. 043 ) and baseline NIHSS score (OR 2. 283, 95％ CI 1. 382-3. 772, P = 0. 001 ) were the independent influencing factors of hemorrhagic transformation. Conclusion Hyperglycemia at admission was an independent risk factor for poor outcome in patients with AIS after intravenous thrombolytic therapy, but it was not associated with the risk of hemorrhagic transformation.

OBJECTIVE:To investigate the protective effects of insulin-glucose on myocardium in patients receiving cardiac valve replacement under cardiopulmonary bypass. METHODS:Totally 120 patients receiving combined cardiac valve replacement under cardiopulmonary bypass were divided into control group and observation group according to random number table,with 60 cases in each group. All patients were given routine operation. Control group was given Thomas cardioplegia and oxygenated blood with a ratio of 1:4(V:V)to protect myocardium at 4 ℃. Besides that,the observation group was additionally given Insulin injec-tion 10 IU/L and Glucose injection 10 g/L added into Thomas cardioplegia at 4 ℃ to protect myocardium. The levels of plasma brain natriuretic peptide(BNP)and cardiac troponinⅠ(cTnⅠ)before anesthesia induction(T0),at the end of cardiopulmonary by-pass(T1),12 h(T2),24 h(T3),48 h(T4),and 72 h(T5)after surgery,the rate of recovery of automatic heartbeat after opening aor-ta,the application of vasoactive agent(dopamine)at T1 and the occurrence of postoperative complications were observed and com-pared between 2 groups. RESULTS:At T0,there was no statistical significance in the levels of plasma BNP and cTnⅠ between 2 groups(P>0.05). The levels of plasma BNP and cTnⅠin 2 groups at T1-5 were significantly higher than T0,with statistical signifi-cance(P<0.05);the levels of cTnⅠ began to decrease at T4 and cTnⅠbegan to decrease at T5. However,the levels of BNP and cTnⅠwere significantly lower in observation group than in control group at T1-5,with statistical significance(P<0.05). After open-ing aorta,there was no statistical significance in the rate of recovery of automatic heartbeat between 2 groups(P>0.05). The dos-age of dopamine (at T1) and the incidence of complications in observation group were statistically lower than control group,with statistical significance(P<0.05). No severe ADR was found in 2 groups during or after surgery. CONCLUSIONS:Insulin-glucose can alleviate myocardial damage, reduce the dosage of vasoactive agent and the incidence of postoperative complications in pa-tients receiving combined cardiac valve replacement under cardiopulmonary bypass with significant protective effect on myocardium with good safety.

Objective To review the phenylalanine(Phe) and thyrotropin(TSH) results of national external quality assessment(EQA)in neonatal screening laboratory for 7 years,evaluate qualitity control level and summarize the problems in the screening measurement.Methods The Phe and TSH values in dried blood spot specimens on filter paper distributed by national center for clinical laboratory were measured by fluorometrie method and time-resolved fluorescence immunoassay respectively.The Phe and TSH EQA results from 2010 to 2016 year were analyzed.Results Five specimens were distributed by EQA organizer each time,and 3 times each year.(1) In the 105 specimens of 21 batches,the bias ranges of Phe and TSH measurement were wide and their average values were 2.21% and 0.98% respectively.(2) Quantitative results analysis :Six quantitative results of Phe measurement and two quantitative results of TSH measurement were out of aunty control(bias ≥30% or ≤-30%),accounting for 5.71%(6/105)and 1.9%(2/105) respectively.(3)Qualitative results analysis:The Phe and TSH qualitative analysis of specimens conformed to the expected results(100%).The result of every batch was up to 80%.Conclusion It is useful to evaluate the measurement competence,find out the problems in the Phe and TSH measurement in neonatal screening laboratory and resolve them in time.Consequently,it is useful to improve the quality of measurement,reduce the error and ensure the accuracy of results.

Objective To analyze contrastly the effect of 89SrCl2 for bone metastasis in Uygur and Han patients with prostate cancer.Methods The curative effects in 75 Uygur and 82 Han patients with prostate cancer bone metastasis were investigated after intravenous injection with 89SrCl2,including palliation of pain.SPECT was used to detect the change of metastasis,level of prostate-specific antigen (PSA) and interleukin-6 (IL-6) were detected by electrochemiluminescence immunoassay.Results After treated with 89SrCl2,the palliation rate,the bone metastases and the level of IL-6 were higher in Uygur patients [82.67 ％ (62/75),75 ％ (56/75),(4.24±1.74) pg/ml] than those in Han patients [60.98 ％ (50/82),52.44 ％ (43/82),(2.81±2.38) pg/ml],and there were statistically significant (P ＜ 0.05).Conclusion 89SrCl2 is more effective for the Uygur patients with prostate cancer bone metastasis than the Han patients,clinical workers should pay more attention to this.

Objective To analyze the effect on prostate cancer bone metastasis of Uygur and Han people treated with strontium-89-chlovide.Methods The curative effects in 36 cases of Uygur and 40 cases of Han patients with prostate cancer bone metastasis were investigated after intravenous injection with strontium-89-chloride,including palliation of pain,change of metastatic focus,level of prostate-specific antigen (PSA) and interleukin-6 (IL-6).Results After treated with strontium-89-chlovide,compared with the han patients with prostate cancer bone metastasis,the palliation rate (83.33 ％) F-PSA [(29.29 ± 8.69) μg/L] and T-PSA [(3.73 ± 1.48) ml/L] were higher,the bone metastases and the level of IL-6 were more significantly reduced of Uygur patients,and there were statistically significant (x2 =4.113,t =1.359,t =1.849,all P ＜ 0.05).Conclusion It is more effective treated with 89 SrCl-chloride for the Uygur patients with prostate cancer bone metastasis metastases than the Han patients.

Objcetive To evaluate the clinical significance of bone biochemical metabolic markers in osteoporosis( OP),and investigate the clinical application value of the determination.Methods BMD at various skeletal sites was measured by XR-36 dual energy X-ray absorptiometry for 65 patients.Enzyme linked immunosorbent assay (ELISA) were used to determine bone biochemical metabolic markers in sera of 65 patients with osteoporosis and 62healthy controls.Results The levels of serum TRACP5b and 25-OH-VD3/25-OH-VD2 in OP group were higher than that in control group( P ＜0.05),meanwhile the level of BGP,BAP and Ca were varying degrees higher than that in control group,but the level of P was lower than that in control group.Conclusion TRACP5b,BGP,BAP,VD3/2 and other bone metabolic markers can be used as indicators of early detection of osteoporosis,in order to provide valuable data for early treatment of osteoporosis.