Objective: To analyze the cause of discrepancy between ABO genotype B102/O01 and serological results in one case by PCR-SSP, to clarify the serological characteristics of this special blood group, and to explore relevant blood transfusion strategies. Methods: Blood group serological tests were performed on blood donor in August and December 2024, including forward and reverse ABO typing using tube method, H antigen identification, direct anti-human globulin test by tube method, red blood cell absorption-elution test, and determination of ABH blood group substance in saliva. Exons 1-7 of the ABO gene were amplified by PCR-SSP and sequenced. Results: The two separate serological tests consistently identified the donor as having an A B phenotype, but the results of gene sequencing indicated a B102/O01 genotype, showing an discrepancy between serological and genetic results. Conclusion: It is very likely that the blood type of the blood donor is B102/O01 with a microchimerism of type A, or an AB type masked by A type reference gene.

Objective:To explore the clinical and imaging features of the concomitant gastric-type endocervical adenocarcinoma(G-EAC)in female patients with Peutz-Jeghers syndrome(PJS),so as to improve the early diagnostic level for PJS.Methods:A retrospective analysis was performed on the clinical and imaging data of 12 patients who were confirmed as PJS with G-EAC at Air Force Medical Center,PLA from June 2021 to December 2024.The 12 patients all received computed tomography(CT)examination before surgery,and 6 cases among of them received magnetic resonance imaging(MRI)examination at the same time.The features of clinical performance,and imaging features of CT and MR in all patients were analyzed.Results:In 12 G-EAC patients,7 cases(58.3%)did not occurred any abnormally relative symptoms of gynaecology and obstetrics,while 5 cases(41.7%)occurred increase of vaginal drainage and/or vaginal bleeding.The results of imaging examination indicated that 12 cases occurred concomitant cyst,including 5 cases(41.7%)with large cysts,6 cases(50.0%)that micro cysts coexisted with large cysts,1 case(8.3%)that solid mass combined with small amount of micro cysts,and 4 cases(33.3%)that combined with small amount of uterine cavity effusion.MR performance was the most of occurrences were quasi-circular object with long T1/T2 signals,and the sequences of diffusion weighted imaging(DWI)appeared there was no diffusion or mild restriction,and apparent diffusion coefficient(ADC)appeared slightly high signal.The tumors that mainly were solid components appeared longer T2 signals,which diffusion was limited,and which ADC values appeared low signals.CT images of them presented enlarged cervixes,and mixed-density cystic and solid nodules and mass shadows at local tissues,and cellular change at local lesions.There was not significant strengthen at the cystic fields of the lesion with enhanced scan,and the solid fields appeared uneven enhancement.The accuracy rates both of preoperative CT and MR diagnosis were 50.0%.Conclusion:The clinical appearance,and imaging futures of CT and MR examinations of PJS female patients with G-EAC are respectively:partial patients occur vaginal drainage and/or vaginal bleeding,the most of tumors often occurs at the entire cervix(includes upper segment),often combines with cystic changes,and often appears infiltrating growth.The clinical PJS appearance,CT and MR examinations contribute to early diagnosis for G-EAC.

Objective To analyze the relationship between umbilical cord blood chemokines regulated upon activation normal T cell expressed and secreted(RANTES),C-X-C motif chemokine ligand 12(CXCL12),C-X-C motif chemokine receptor 4(CXCR4)and neonatal septicemia inflammatory response and outcome.Meth-ods A total of 242 children with neonatal septicemia admitted to a hospital from January 2020 to January 2024 were selected as the study subjects,and were divided into non-critical group(101 cases),critical group(79 cases)and extremely critical group(62 cases)according to neonatal critical case score.According to the prognosis,the subjects were divided into good prognosis group and bad prognosis group.The levels of RAN-TES,CXCL12,CXCR4 and inflammatory factors[C-reactive protein(CRP),interleukin-6,IL-1β]in umbilical cord blood of each group were detected.The correlation between RANTES,CXCL12,CXCR4 and inflammato-ry factors in umbilical cord blood of neonatal septicemia was analyzed by Pearson correlation,and the influen-cing factors of poor prognosis of neonatal septicemia were analyzed by multivariate Logistic regression.Re-ceiver operating characteristic(ROC)curve was drawn to analyze the value of umbilical cord blood RANTES,CXCL12 and CXCR4 in predicting the poor prognosis of neonatal septicemia.Results The levels of RAN-TES,CXCL12,CXCR4,CRP,IL-6 and IL-1β in umbilical cord blood of extremely critical group were higher than those of critical group and non-critical group,and the differences were statistically significant(P＜0.05).The levels of RANTES,CXCL12 and CXCR4 in umbilical cord blood of neonatal septicemia were posi-tively correlated with CRP,IL-6 and IL-1β(P＜0.05).Multivariate Logistic regression analysis showed that extremely severe,early-onset septicemia,high RANTES,high CXCL12 and high CXCR4 were risk factors for poor prognosis of neonatal septicemia(P＜0.05).ROC curve analysis results showed that the area under the curve(AUC)of umbilical cord blood RANTES,CXCL12 and CXCR4 in predicting poor prognosis of neonatal septicemia were 0.810,0.814 and 0.763,respectively,and the AUC of three indicators combined prediction was 0.914,which was higher than that of single prediction.Conclusion The increased levels of RANTES,CX-CL12 and CXCR4 in umbilical cord blood of neonatal septicemia are associated with inflammation,aggravation and poor prognosis,and the combination of RANTES,CXCL12 and CXCR4 can predict the risk of poor prog-nosis of neonatal septicemia.

This article provides an interpretation of the EULAR/PReS recommendations for the diaganosis and management of Still′s disease focusing on the diagnostic criteria, therapeutic targets, and strategies for managing complications in systemic juvenile idiopathic arthritis (sJIA) and adult-onset Still′s disease (AOSD). The guidelines introduce, for the first time, the unified nomenclature of "Still′s disease" for both sJIA and AOSD, emphasizing the importance of early recognition and stepwise management. Particular attention is given to the role of IL-1 and IL-6 inhibitors in reducing glucocorticoid use. This article aims to assist clinicians in China in better understanding and applying these guidelines to enhance the diagnosis and treatment of Still′s disease.

Objective:To explore the clinical and imaging features of the concomitant gastric-type endocervical adenocarcinoma(G-EAC)in female patients with Peutz-Jeghers syndrome(PJS),so as to improve the early diagnostic level for PJS.Methods:A retrospective analysis was performed on the clinical and imaging data of 12 patients who were confirmed as PJS with G-EAC at Air Force Medical Center,PLA from June 2021 to December 2024.The 12 patients all received computed tomography(CT)examination before surgery,and 6 cases among of them received magnetic resonance imaging(MRI)examination at the same time.The features of clinical performance,and imaging features of CT and MR in all patients were analyzed.Results:In 12 G-EAC patients,7 cases(58.3%)did not occurred any abnormally relative symptoms of gynaecology and obstetrics,while 5 cases(41.7%)occurred increase of vaginal drainage and/or vaginal bleeding.The results of imaging examination indicated that 12 cases occurred concomitant cyst,including 5 cases(41.7%)with large cysts,6 cases(50.0%)that micro cysts coexisted with large cysts,1 case(8.3%)that solid mass combined with small amount of micro cysts,and 4 cases(33.3%)that combined with small amount of uterine cavity effusion.MR performance was the most of occurrences were quasi-circular object with long T1/T2 signals,and the sequences of diffusion weighted imaging(DWI)appeared there was no diffusion or mild restriction,and apparent diffusion coefficient(ADC)appeared slightly high signal.The tumors that mainly were solid components appeared longer T2 signals,which diffusion was limited,and which ADC values appeared low signals.CT images of them presented enlarged cervixes,and mixed-density cystic and solid nodules and mass shadows at local tissues,and cellular change at local lesions.There was not significant strengthen at the cystic fields of the lesion with enhanced scan,and the solid fields appeared uneven enhancement.The accuracy rates both of preoperative CT and MR diagnosis were 50.0%.Conclusion:The clinical appearance,and imaging futures of CT and MR examinations of PJS female patients with G-EAC are respectively:partial patients occur vaginal drainage and/or vaginal bleeding,the most of tumors often occurs at the entire cervix(includes upper segment),often combines with cystic changes,and often appears infiltrating growth.The clinical PJS appearance,CT and MR examinations contribute to early diagnosis for G-EAC.

This article provides an interpretation of the EULAR/PReS recommendations for the diaganosis and management of Still′s disease focusing on the diagnostic criteria, therapeutic targets, and strategies for managing complications in systemic juvenile idiopathic arthritis (sJIA) and adult-onset Still′s disease (AOSD). The guidelines introduce, for the first time, the unified nomenclature of "Still′s disease" for both sJIA and AOSD, emphasizing the importance of early recognition and stepwise management. Particular attention is given to the role of IL-1 and IL-6 inhibitors in reducing glucocorticoid use. This article aims to assist clinicians in China in better understanding and applying these guidelines to enhance the diagnosis and treatment of Still′s disease.

Objective To investigate the genetic causes of auditory neuropathy with optic atrophy in a family.Methods The proband's medical history and family history were inquired in detail,and relevant clinical examina-tions were performed to confirm the diagnosis of auditory neuropathy with optic atrophy,and the genetic pedigree of the family was drawn.Peripheral blood of proband(Ⅲ-7)was collected for whole exome sequencing,and the patho-genicity of the detected mutations were interpreted.Blood samples of proband's wife(Ⅲ-8),eldest daughter(Ⅳ-7),second daughter(Ⅳ-9)and son(Ⅳ-10)were tested for mutation sites by Sanger sequencing.Combined with clinical manifestations and examination results,the family was studied.Results The genetic pattern of this family was autosomal dominant.The proband showed decreased visual acuity at the age of 19,bilateral sensorineural deaf-ness at the age of 30,and decreased speech recognition rate.Among 20 members of the family of 5 generations,10(2 deceased)showed similar symptoms of hearing and visual impairment.Proband(Ⅲ-7),eldest daughter(Ⅳ-7)and son(Ⅳ-10)underwent relevant examination.Pure tone audiometry showed bilateral sensorineural deafness.ABR showed no response bilaterally.The 40 Hz AERP showed no response in both ears.OAE showed responses in some or all of the frequencies.No stapedial reflex was detected.The eye movement of Ⅲ-7 and Ⅳ-10 were reasona-ble in all directions,and color vision was normal.Ocular papilla atrophy was observed in different degrees in fundus examination.OCT showed thinning of optic disc nerve fibers in both eyes,and visual evoked potential showed pro-longed P100 wave peak.They were diagnosed as hereditary auditory neuropathy with optic atrophy.A mutation of the OPA1 gene c.1334G＞A(p.Arg445His,NM_015560.2)at a pathogenic locus on chromosome 3 was detected by whole exon detection in Ⅲ-7.The results of generation sequencing analysis showed that the OPA1 gene c.1334G＞A(p.Arg445His,NM_015560.2)mutation of chromosome 3 was also found in Ⅳ-7 and Ⅳ-10.Meanwhile,the gen-otypes of Ⅲ-8 and Ⅳ-9 were wild homozygous,that is,no mutation occurred.Conclusion The OPA1 c.1334G＞A(p.Arg445His,NM_015560.2)mutation site might be the pathogenic mutation in this family.

Objective To investigate the effect of early warning score system combined with(situation,background,ssessment,recommendation,SBAR)communication model in early warning of high-risk neonates,therefore to provide an effective communication method for an effective communication method to assess the changes of condition in neonates.Methods A before-after study model was adopted in the study.A total of 270 high-risk neonates admitted to the ward of the Department of Neonatology in a tertiary hospital between August and September 2022 were selected as research subjects.The high-risk neonates admitted in hospital in August were assigned in a control group,and those admitted in September were assigned in an trial group,with 135 neonates per group.Routine care was carried out in the control group,while early warning scoring combined with SBAR communication model were applied in the trial group on top of the cares offered to the control group.The occurrence of early warning events,concordance rate of nurse warning event and doctor handling events,and the satisfaction rate of doctors with the nursing performance were compared between the two groups.Results A total of 63.6%of early warning events were triggered by nurses in the control group,while it was 92.6%in the trial group,with a statistically significant difference between the groups(χ2=16.622,P<0.001).The consistency of handling of early warning events between the nurses and doctors in the trial group(Kappa coefficient=0.926)was higher than that in the control group(Kappa coefficient=0.641).The satisfaction rates of the doctors with the nurses about specialist knowledge,ability in emergency events,mastery of disease,timely observation of disease progress,collaboration between doctors and nurses,working enthusiasm,communication capability and the psychological quality in the trial group were all significantly higher than those in the control group[80.0%-95.0%vs.30.0%-55.0%,all P<0.01].Conclusions The Early Warning Score system combined with SBAR communication model can help nurses to accurately evaluate the changes of disease in neonates,complete the communication with doctors timely and effectively.It improves the observation,communication and handling capability among the nurses as well as the satisfaction rate of doctors with nursing work.

Objective:To investigate the clinical efficacy and safety of ferric derisomaltose injection versus iron sucrose injection in the treatment of iron deficiency anemia (IDA) .Methods:A total of 120 patients with iron deficiency anemia admitted from June 2021 to March 2023 were given intravenous iron supplementation with ferric derisomaltose to assess the efficacy and safety of hemoglobin (HGB) elevation before and after treatment. Simultaneously, the clinical effects of iron supplementation with iron sucrose were compared to those of inpatient patients during the same period.Results:Baseline values were comparable in both groups. Within 12 weeks of treatment, the elevated HGB level in the ferric derisomaltose group was higher than that of the iron sucrose group, with a statistical difference at all time points, and the proportion of HGB increased over 20 g/L in the patients treated for 4 weeks was higher (98.7%, 75.9% ). During the treatment with ferric derisomaltose and iron sucrose, the proportion of mild adverse reactions in the ferric derisomaltose group was slightly lower than that of the iron sucrose group, and neither group experienced any serious adverse reactions. The patients responded well to the infusion treatment, with no reports of pain or pigmentation at the injection site.Conclusion:The treatment of IDA patients with ferric derisomaltose has a satisfactory curative effect, with the advantages of rapidity, accuracy, and safety. Therefore, it is worthy of widespread clinical use.

Objective:This study aimed at investigating the efficacy and safety of eltrombopag in the treatment of adult primary immune thrombocytopenia (ITP) and evaluated the factors influencing its efficacy and side effects.Methods:A total of 198 patients with adult ITP who were admitted to Tianjin Medical University General Hospital between January 2018 and March 2022 were retrospectively analyzed. The efficacy of each starting dose of eltrombopag was evaluated, and adverse events were analyzed. The factors influencing efficacy were investigated, including sex, age, adult ITP type, platelet antibodies, and combined drug treatments.Results:Of the 198 patients, 70 males and 128 females with a median age of 45 years (18-88 years) were included; 130 (65.7%) had newly diagnosed adult ITP, 25 (12.6%) had persistent adult ITP, and 43 (21.7%) had chronic adult ITP. The bleeding event scores at baseline were assessed; 84.3% had scores of<4 and 15.7% had scores of ≥4. The eltrombopag response rate (initial response) at 6 weeks was 78.8% (complete response [CR]: 49.0%; CR1: 14.6%; CR2: 15.2%). The median response time to eltrombopag was 7 (7, 14) days. The initial response rates to 25, 50, and 75 mg eltrombopag were 74.1%, 85.9%, and 60.0%, respectively ( P=0.031). The initial response rate to the 50 mg dose was significantly higher than that of the 25-mg and 75-mg doses. Two patients received 100 mg as the starting dose, and their initial response was 0. Regarding dose adjustment, 70.7% of the patients remained on the starting dose, 8.6% underwent dose adjustment to 50 mg, and 6.1% underwent dose adjustment to 75 mg. Another two patients underwent dose adjustment to 100 mg. After dose adjustment, the persistent response rates were 83.6%, 85.3%, and 85.7% for the 25-, 50-, and 75-mg doses, respectively, with no significant difference. After dose adjustment, the sustained efficacy rate for the 100-mg dose (4 patients) was 100.0%. After 6 weeks of treatment with eltrombopag, the overall bleeding score of patients with ITP decreased. The number of patients with a score of ≥4 decreased to 0, the number of patients with a score of<4 decreased, and there was no significant change in the number of patients with a score of 1-2. The most common adverse event associated with eltrombopag was impaired liver function (7.7%). No thrombosis events or other adverse events were observed. ITP type and number of megakaryocytes significantly affected the initial response to eltrombopag. The initial response rates to eltrombopag for newly diagnosed adult ITP, persistent adult ITP, and chronic adult ITP were 85.3%, 56.0%, and 76.2%, respectively ( P=0.003). For megakaryocytes, the initial response rates were 61.8%, 87.1%, and 84.3% ( P=0.009) for the decreased, normal, and increased megakaryocyte groups, respectively. Conclusion:Eltrombopag, as a second-line or higher treatment for adult ITP, has a rapid onset of action and good safety. The initial response rate is significantly higher with a dose of 50 mg than with a dose of 25 mg. Patients with newly diagnosed ITP and those with normal or increased megakaryocyte numbers have a higher initial response rate to eltrombopag.