1.Case-control study of risk factors of obstetrical brachial plexus palsy
Chinese Journal of Obstetrics and Gynecology 2011;46(11):840-844
Objective To study the risk factors of obstetrical brachial plexus palsy (OBPP).Methods Forty-six newborn infants with OBPP were recruited between January 1997 and December 2009 from Technical Appraisement Center for Medical Malpractice of Shandong province as OBPP group.In the control group,138 newborn infants delivered in the same time,same hospital and same gender were collected,with a ratio of 1:3.All the cases were analyzed retrospectively.The newborn,maternal,childbirth data and working experience of midwives were analyzed by univariate and multivariate logistic regression analysis.Results ( 1 ) External pelvimetries of the two groups were normal.All were singleton newborns by vaginal deliveries with cephalic presentation.Twenty-two newborns had left unilateral palsies,and the other 24 had right unilateral palsies.The numbers of the whole,upper and fore arm type were 17,26 and 3,respectively.The maternal age,gravidity,parity and gestational weeks were higher in OBPP group than in the control group ( P < 0.05 ).( 2 ) The maternal antepartum body mass index ( BMI ) [ ( 29.5 ± 2.4 ) kg/m2 ],height of the uterus [ (34.9 ± 2.4) cm ] and abdominal circumference [ ( 105 ± 6) cm ] in OBPP group were higher than those in the control group [ ( 26.1 ± 2.5 ) kg/m2,( 33.7 ± 2.2 ) cm and ( 99 ± 5 ) cm,respectively ] ( P < 0.05 ).The newborn birth weight in OBPP group [ ( 4390 ± 489 ) g ] was significantly higher than the control group [ ( 3404 ± 360 ) g] ( P < 0.01 ).The working experience of midwives in OBPP group [ ( 5.2 ± 2.3 ) years ] was less than the control group [ ( 8.9 ± 5.4) years ] ( P < 0.01 ).(3) There was a higher proportion of instrumental delivery ( 28.3% vs.3.6% ),uterine atony (28.3% vs.6.5% ),prolonged second stage(8.7% vs.0.7% ) and fetal malposition( 10.9% vs.2.9% ) in the OBPP group than in the control group ( P < 0.05 ).(4) Univariate logistic analysis showed that the P values of maternal age,antepartum BMI,height of uterus,abdominal circumference,newborn birth weight,gravidity,second stage duration,instrumental delivery,fetal malposition,uterine atony and working experience of midwives were all less than 0.10.And the working experience of midwives was a protective factor.(5)The factors listed above were taken as variables,selected stepwise regression for multivariate logistic regression analysis.Boundary value was 0.10.It showed that the antepartum BMI ( OR =1.733 ) and newborn birth weight ( OR =1.004 ) were related to OBPP ( P < 0.10 ).The significance of maternal antepartum BMI was higher than birth weight.Conclusions The maternal antepartum BMI is the most important risk factor for OBPP,and the newborn birth weight is the other risk factor.The working experience of midwives is a protective factor.
2.Research progress on social alienation of patients with gynecological malignant tumors
Xinyu LI ; Ruiling LI ; Yang BAI ; Xin YANG ; Suting LIU ; Xianling FENG
Chinese Journal of Practical Nursing 2024;40(4):316-321
To review the research status, assessment tools, influencing factors and intervention measures of social grooming in patients with gynecological malignant tumors, so as to provide a theoretical basis for improving the social alienation of patients with gynecological malignant tumors and better integrating into society.
3.Correlation analysis of serum 25(OH)D with severe obstructive sleep apnea hypopnea syndrome at altitude
Qi BIAN ; Baoliang YANG ; Suting GUO ; Yajuan LIU ; Huiru YE ; Lijuan HAO
Chinese Journal of Health Management 2022;16(6):382-388
Objective:To investigate the correlation between 25 hydroxyvitamin D[25 (OH) D] level and sleep monitoring index in patients with severe altitude obstructive sleep apnea hypopnea syndrome (OSAHS).Methods:Sixty-six patients with severe OSAHS (AHI≥30 times/hour) diagnosed by apnea hypopnea index (AHI) who had lived at high altitude (1 800-4 193 m) for≥1 year were included in the experimental group. The patients underwent polysomnography monitoring in Sleep Medicine Center of Qinghai Red Cross Hospital from June to December 2021. In addition, healthy volunteers matched the experimental group by gender, age, ethnicity and living altitude during the same period were selected for polysomnography monitoring. Finally, 48 healthy volunteers with AHI<5 times/hour were included as the control group. 25(OH)D level and its deficiency were compared between the two groups. The experimental group was further divided into severe deficiency group [25(OH)D≤10 μg/L], the deficiency group [10 μg/L<25(OH)D≤20 μg/L] and the non-deficiency group [25(OH)D>20 μg/L] according to 25(OH)D level, and the differences of sleep parameters among the three groups were compared. Correlation analysis and multifactor linear regression analysis were performed on the factors that may affect the level of 25(OH)D in patients with severe OSAHS.Results:A total of 114 adults living on the plateau for at least one year were enrolled, including 66 in the experimental group and 48 in the control group. 25(OH)D deficiency (≤30 μg/L) was found in all the individuals included in the experimental group and the control group, and the 25(OH)D level of the two groups was [(13.13±4.05) vs (13.68±4.60) μg/L, P=0.507] and there was no significant difference in deficiency degree (all P>0.05). Within the experimental group, rapid eye movement (REM) sleep time and proportion (REM%) and sleep awakening time of 25(OH)D non-deficiency group, were significantly lower than those in severe deficiency group (all P<0.05), and sleep efficiency in 25(OH)D non-deficiency group was significantly higher than that in severe deficiency group and deficiency group (all P<0.05). Spearman correlation analysis showed that the level of 25 (OH) D in experimental group were positively correlated with serum calcium ion level ( r=0.293, P=0.017) and sleep efficiency ( r=0.309, P=0.011), and were negatively correlated with age ( r=-0.298, P=0.015), REM sleep time ( r=-0.401, P=0.001), REM% ( r=-0.421, P<0.001) and awakening time ( r=-0.362, P=0.003). Multifactor linear regression analysis suggested that serum calcium, REM sleep time and history of hypertension were the predictors of 25(OH)D level in severe OSAHS at high altitude. Conclusions:There is a correlation between sleep monitoring indexes and serum 25(OH)D level in patients with severe OSAHS at high altitude. The longer the REM sleep time, the lower the 25(OH)D level. Meanwhile, there is a certain relationship between co-morbidity hypertension and 25(OH)D level in patients with severe OSAHS at high altitude.
4.Xq;Yq translocation in a patient with premature ovarian insufficiency.
Suting YANG ; Yanan ZHANG ; Jiancheng HU ; Rong HU ; Zhengjun JIA ; Hui XI ; Hua WANG
Chinese Journal of Medical Genetics 2020;37(9):942-945
OBJECTIVE:
To explore the genetic basis for a patient with premature ovarian insufficiency.
METHODS:
Chromosomal G-banding and C-banding, single nucleotide polymorphism array (SNP-array), fluorescence in situ hybridization (FISH) and Y chromosome microdeletion assay were used for the analysis.
RESULTS:
With the combined techniques, the patient was found to carry a Xq;Yq translocation, with a karyotype of 46,X,der(X)t(X;Y)(q25;q12).ish der(X)(Tel XYp+,Tel XYq+,Yq12+).
CONCLUSION
Unbalanced Xq;Yq translocation probably underlay the premature ovarian insufficiency in this patient.
5.Analysis of a Chinese pedigree affected with Hereditary coagulation factor Ⅺ deficiency due to variant of F11 gene.
Huanhuan WANG ; Suting JIANG ; Huinan XIA ; Lihong YANG ; Yanhui JIN ; Mingshan WANG
Chinese Journal of Medical Genetics 2023;40(11):1319-1323
OBJECTIVE:
To explore the molecular pathogenesis of a Chinese pedigree affected with Hereditary coagulation factor Ⅺ (FⅪ) deficiency due to variants of the F11 gene.
METHODS:
A male proband with Hereditary coagulation factor Ⅺ deficiency who was admitted to the First Affiliated Hospital of Wenzhou Medical University due to urinary calculi on November 30, 2020 and his family members (7 individuals from 3 generations in total) were selected as the study subjects. Clinical data of the proband were collected, and relevant coagulation indices of the proband and his family members were determined. Genomic DNA of peripheral blood samples was extracted for PCR amplification. All exons, flanking sequences, and 5' and 3' untranslated regions of the F11 gene of the proband were analyzed by direct sequencing. And the corresponding sites were subjected to sequencing in other family members. The conservation of amino acid variation sites was analyzed by bioinformatic software, and the effect of the variant on the protein function was analyzed. Variants were graded based on the guidelines from the American College of Medical Genetics and Genomics (ACMG).
RESULTS:
The proband was a 36-year-old male. His activated partial thromboplastin time (APTT) was 89.2s, which was significantly prolonged. The FⅪ activity (FⅪ:C) and FⅪ antigen (FⅪ:Ag) were 2.0% and 3.5%, respectively, which were extremely reduced. Both the proband and his sister were found to harbor compound heterozygous variants of the F11 gene, including a c.689G>T (p.Cys230Phe) missense variant in exon 7 from their father and a c.1556G>A (p.Trp519*) nonsense variant in exon 13 from their mother. Conservation analysis indicated the Cys230 site to be highly conserved. The c.1556G>A (p.Trp519*) variant was known to be pathogenic, whilst the c.689G>T variant was classified as likely pathogenic (PM2+PM5+PP1+PP3+PP4) based on the ACMG guidelines.
CONCLUSION
The c.689G>T and c.1556G>A compound heterozygous variants of the F11 gene probably underlay the pathogenesis of FⅪ deficiency in this pedigree.
Adult
;
Humans
;
Male
;
3' Untranslated Regions
;
East Asian People
;
Factor XI/genetics*
;
Factor XI Deficiency/genetics*
;
Partial Thromboplastin Time
;
Pedigree