Risk factors for first weaning failure following mandibular distraction osteogenesis in pediatric patients with Pierre Robin sequence: a nested case-control study / 中华麻醉学杂志

Objective:To identify the risk factors for the first weaning failure following mandibular distraction osteogenesis in pediatric patients with Pierre Robin sequence (PRS).Methods:Clinical data of pediatric patients with PRS who underwent mandibular distraction osteogenesis from January 2018 to February 2023 were collected, including sex, age, premature birth, birth weight, surgical weight, cleft palate, syndrome type PRS, laryngeal/tracheobronchial malacia, simple congenital heart disease, complex congenital heart disease, preoperative mechanical ventilation, preoperative pulmonary infection, blood albumin concentration, difficulty in tracheal intubation under a visual laryngoscope, surgical duration, postoperative ventilator-associated pneumonia, duration of mechanical ventilation at first weaning, and traction length at first weaning. Children in whom the first postoperative machine withdrawal failed were included in observation group and matched to control cases(control group) in a 1∶4 ratio. The risk factors of which P values were less than 0.05 would enter the logistic regression analysis to stratify the risk factors for postoperative weaning failure. Results:There were significant differences in birth weight, cleft palate, duration of mechanical ventilation and traction length at first weaning, rate of combined cleft palate, preoperative pulmonary infection rate, rate of preoperative mechanical ventilation, and rate of postoperative ventilator-associated pneumonia between the two groups ( P<0.05). Binary logistic stepwise regression analysis showed that the preoperative mechanical ventilation ( OR=18.154, 95% CI 3.971-82.990, P<0.001) and postoperative ventilator-associated pneumonia ( OR=36.942, 95% CI 1.307-1043.985, P=0.034) were independent risk factors for first weaning failure after mandibular distraction osteogenesis, while birth weight gain ( OR=0.225, 95% CI 0.076-0.668, P=0.007) was a protective factor for first weaning failure ( P<0.05). Conclusions:Preoperative mechanical ventilation and postoperative ventilator-associated pneumonia are independent risk factors and birth weight gain is a protective factor for first weaning failure following mandibular distraction osteogenesis in pediatric patients with PRS.

Analysis of the results of chromosomal trisomies 21, 18 and 13 screening among 40 628 women by non-invasive prenatal testing / 中华医学遗传学杂志

OBJECTIVE@#To assess the clinical value of non-invasive prenatal testing (NIPT) for the screening of trisomy and copy number variations (CNVs) of chromosomes 21, 18 and 13.@*METHODS@#From January 2015 to December 2019, 40 628 pregnant women underwent NIPT testing using high-throughput sequencing and bioinformatics analysis to test the cell-free fetal DNA in maternal plasma. High-risk pregnant women underwent invasive prenatal diagnosis, while low-risk ones were followed up by telephone.@*RESULTS@#The three most common indications included intermediate risk of serological screening, high risk of serological screening and advanced maternal age. Among all pregnant women, 257 cases were detected as trisomy 21, 18 and 13 (170, 49 and 38 cases, respectively). 227 cases chose invasive prenatal diagnosis, with respectively 122, 28 and 10 cases confirmed. The positive predictive value (PPV) was 81.33% (122/150), 65.12% (28/43), 29.41% (10/34), respectively. Two false negative cases of trisomy 18 were found during follow-up. Meanwhile, NIPT has detected 46 cases (15, 16 and 15 cases, respectively) CNVs on chromosomes 21, 18 and 13, among which 37 cases underwent invasive prenatal diagnosis. There were 5, 3 and 5 positive cases, which yielded a PPV of 41.67% (5/12), 25%(3/12) and 33.33%(5/15), respectively. Two other chromosome CNVs were accidentally discovered among the false positive samples.@*CONCLUSION@#The incidence of chromosomal abnormalities in the serological screening high-risk group was 52.02%, which was significantly higher than other groups. NIPT has a high sensitivity and specificity for the screening of trisomies 21, 18 and 13, while its accuracy for detecting CNVs of chromosomes 21, 18 and 13 needs to be improved. As a screening method, NIPT has a great clinical value, though there are still limitations of false positive and false negative results.Comprehensive pre- and post-test genetic counseling should be provided to the patients.

Analysis of prognostic factors of the first relapsed/refractory primary central nervous system lymphoma / 中国肿瘤临床

Objective: To analyze the clinical characteristics of patients with relapsed/refractory primary central nervous system lym-phoma (PCNSL) and to explore the factors that influence the prognosis, in order to provide evidence for the clinical diagnosis and treat-ment. Methods: Sixty-four patients with relapsed/refractory PCNSL diagnosed from October 2006 to August 2015 were selected. The clinical features, treatment plans, and laboratory examination data were retrospectively analyzed. Cox regression was used for multi-variate analysis. Results: Univariate and multivariate analyses showed that progression-free survival of first time (PFS1)≤1 year and Kar-nofsky performance status (KPS) score<70 points were independent prognostic factors in patients with first relapsed/refractory PCNSL. The median PFS2 and overall survival of second time (OS2) were 19 and 21 months, respectively, in patients with PFS1≥1 year, where-as the median progression free survival of second time (mPFS2) and OS2 were 10 and 14 months, respectively, in patients with PFS1<1 year. The median PFS2 (mPFS2) in patients with first relapse/refractory KPS score≥70 points and those with KPS score<70 points were 40 and 10 months, respectively, and the median OS2 were 43 and 12 months, respectively. The median PFS for the methotrexate (MTX) and non-MTX groups was 18 and 10 months, respectively. Multivariate analysis showed that the salvage therapy was a relevant factor influencing the patient's PFS. However, univariate analysis showed that the median OS2 in the MTX and non-MTX groups was 23 and 12 months, respectively, with significant difference but without any correlation with prognosis. Conclusions: progression-free sur-vival (PFS)≤1 year and KPS score<70 were independent prognostic factors in patients with first relapsed/refractory PCNSL. Patients with relapsed/refractory PCNSL who continuously received high-dose MTX-based treatment may have improved long-term treatment outcomes.

Application value of fetal umbilical cord blood hemoglobin analysis in prenatal diagnosis of thalassemia / 国际检验医学杂志

Objective To investigate the application value of fetal umbilical cord blood hemoglobin analysis in the prenatal diag ‐nosis of thalassemia .Methods 113 couples were the carriers of the same gene type of thalassemia ,moreover the females were in the pregnant period of 24 - 30 pregnant weeks and performed the prenatal diagnosis .The fetal umbilical cord blood hemoglobin compo‐nents were analyzed by the full automatic capillary electrophoresis technique ,meanwhile the fetal thalassemia gene was detected .Re‐sults Among 113 fetuses ,the umbilical cord blood HbBart′s level in 11 cases of severe α thalassemia was 85 .0% - 95 .5% ,which in 9 cases of intermediate type α thalassemia was 22 .0% - 39 .5% ;the umbilical cord blood HbA level in 6 cases of severe β thalas‐semia was 0% - 0 .4% ,which in 17 cases of light type β thalassemia was 2 .1% - 12 .5% .Conclusion The fetal umbilical cord blood hemoglobin analysis could be used for rapid prenatal diagnosis of severe α ,β and intermediate type α thalassemia ,which can serve as a supplementary method for the prenatal diagnosis of thalassemia .

Diagnosis and prenatal diagnosis to a family of hemoglobin variant with α-thalassemia / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>Diagnosis and prenatal diagnosis to a family of hemoglobin variant with α-thalassemia.</p><p><b>METHODS</b>Whole blood cell analysis, hemoglobin analysis by capillary zone electrophoresis (CZE), Gap-PCR, polymerase chain reaction-reverse dot blot (PCR-RDB) assay and DNA sequencing.</p><p><b>RESULTS</b>Hb Zurich Albisrieden with α°-thalassemia lead to severe anemia. The genotype of fetus is also Hb Zurich Albisrieden with α°-thalassemia.</p><p><b>CONCLUSION</b>Abnormal hemoglobin with α-thalassemia may lead to severe anemia, Prenatal diagnosis of thalassemia has the vital significance for eugenic birth.</p>

Development of a thalassemia gene diagnosis method for dried blood spots / 国际检验医学杂志

Objective To devolope a method for extracting DNA from dried blood spots (DBS)and optimizing the operating procedure,which could be applied to clinical gene diagnosis of thalassemia.And the cross contamination of DBS punching and the storage stability of DBS were studied.Methods A total of 1 50 blood specimens were collected,and DBS were prepared.Circles (3 mm in diameter)were punched in the DBS,and eluted with lysis buffer.The eluting method and operating procedure were opti-mized.Genomic DNA extracted from the elution solution by magnetic beads,and were performed thalassemia gene test.Finally jud-ging whether the results of DBS and whole blood were consistent.Two methods of thalassemia gene test were used in DBS and the compatibility of DBS processing method was verified.Judging whether there was cross contamination of DBS punching by the thalassemia gene test results of blank hole which were punched in the blank filter paper between thalassemia positive DBS.The DBS storage stability in thalassemia gene test was verified by detecting the DBS which were dry stored at room temperature for 6 and 9 months.Results 5 circles (3 mm in diameter)DBS were vibrating eluted at 55 ℃ for 1 hour,the DNA concentration extracted from the elution solution was 10-20 ng/μL,which was dissolved in 50 μL solution,and the DNA quality was good.The thalassemia gene test results of DBS and whole blood were the same,and the DBS results of two thalassemia gene test methods were the same too. The cross contamination of DBS punching was not detected in thalassemia gene test.The DBS which were dry stored at room tem-perature for 6 and 9 months could be stably performed thalassemia gene test.Conclusion DBS could be used to perform thalassemia gene test,which is accurate,convenient and stable.It is an ideal way for specimen referral of thalassemia gene test.

Diagnostic utility of hemoglobin electrophoresis in neonatal cord blood screening for thalassemia / 实用医学杂志

Objective To study the diagnostic utility of hemoglobin electrophoresis in neonatal cord blood screening for thalassemia. Methods Between January 2012 and December 2013, 14032 core blood samples which were from different 21 Women and Children Hospitals in Guangdong were performed for the neonatal screening with hemoglobin electrophoresis. The positive samples of hemoglobin electrophoresis were recalled for genetic testing. Results Out of 1445 (11.07%) positive samples of hemoglobin electrophoresis , 1075 (54.08%) cases were suspected for α-thalassemia, 478 (3.41%) cases were suspected for β-thalassemia, 127 (0.91%) cases were suspected for abnormal hemoglobin. With the genetic testing, 967 cases were diagnosed as α-thalassemia, 404 cases were diagnosed asβ-thalassemia. The coincidence rate ofα-thalassemia andβ-thalassemia were 89.95%and 82.96%, respectively. Besides, 124 cases were diagnosed as abnormal hemoglobin, including 38 cases of Hb E, 28 cases of Hb Q, 21 cases of Hb D, 19 cases of Hb New York, 13 cases of Hb J, and 5 cases of Hb J. Conclusion Hemoglobin electrophoresis was definitely helpful in the neonatal cord blood screening for thalassemia and abnormal hemoglobin.

Evaluation of the treatment effect of psychotherapy on vitiligo / 中华医学美学美容杂志

Objective To investigate the role of psychotherapy plays in the treatment of vitiligo.Methods Psychological health questionnaire(SCL-90)was used in the study to evaluate the psychological well being of 120 vitiligo patients.66 subjects suffering from psychological problems were divided randomly into groups Ⅰand Ⅱ while 54 subjects free of psychological problems randomly into groups Ⅲ and Ⅳ.Psychotherapy was applied together with drug and phototherapy to those subjects from groups Ⅰ and Ⅲ while groups Ⅱ and Ⅳ having no psychotherapy accompanied.After 3 months of treatment,evaluation was done on the treatment effect with psychological testing once again.The correlation between the improvement of psychological conditions of the subjects and the lesion development was then evaluated by"P"value of the four groups.Results Significant difference was achieved between group Ⅰ and group I1I(P＜0.05).There was no significant difference between groupsⅢand IV(P＞0.05).There was significant difference between groups Ⅰ and Ⅱ.There was no significant difference between groups Ⅱ and Ⅳ.Conclusions The psychotherapy is helpful in improving the early treatment effect and quality of life in vitiligo patients.