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OBJECTIVE@#To explore the genetic basis for a patient with Familial hemophagocytic lymphohistiocytosis (FHL).@*METHODS@#A 35-day-old male infant who was admitted to the Oriental Hospital Affiliated to Xiamen University on August 3, 2021 due to fever for over 7 hours was selected as the study subject. Whole exome sequencing (WES) was carried out for the proband and his parents, and candidate variants were selected based on the clinical phenotypes of the proband and confirmed by Sanger sequencing.@*RESULTS@#WES and Sanger sequencing results revealed that the proband had harbored compound heterozygous c.67_71delinsGCCC and c.65delC variants of the PRF1 gene, which were respectively inherited from his mother and father. The c.67_71delinsGCCC variant was unreported previously. Based on the guidelines of American College of Medical Genetics and Genomics and clinical manifestations, it was classified as pathogenic (PVS1+PM2_Supporting+PM3+PP4). c.65delC was a known pathogenic variant (PVS1+PM2_Supporting+PM3_Strong+PP4).@*CONCLUSION@#The compound heterozygous variants of c.67_71delinsGCCC and c.65delC of the PRF1 gene probably underlay the disease in the proband. The identification of the novel variant has expanded the mutational spectrum of the PRF1 gene.
Subject(s)
Male , Female , Humans , Lymphohistiocytosis, Hemophagocytic/genetics , Genomics , Mothers , Mutation , PhenotypeABSTRACT
OBJECTIVE@#To analyze genetic variant in a pedigree affected with congenital high myopia.@*METHODS@#Whole exome sequencing (WES) was carried out for the proband. Suspected variation was verified with Sanger sequencing. The pedigree was also subjected to co-segregation analysis.@*RESULTS@#WES has identified a novel splice site heterozygous variant (c.2556+1G>A) in the COL11A1 gene in the proband. Co-segregation analysis of the pedigree showed that the affected mother and two daughters of the proband have carried the same variant(c.2556+1G>A), while his unaffected father and sister did not. Based on the ACMG Standards and Guidelines for the Interpretation of Sequence Variants, the variant was classified as "likely pathogenic" (PVS1+PM2).@*CONCLUSION@#A novel splice variant (c.2556+1G>A) of the COL11A1 gene has been identified in a pedigree affected with congenital high myopia, which probably underlies the disease.
Subject(s)
Humans , Collagen Type XI , Genetics , Genetic Testing , Heterozygote , Myopia , Genetics , Pedigree , Exome SequencingABSTRACT
Objective@#To explore the feasibility of using da Vinci Surgical System to perform supraomohyoid neck dissection (SOND) to avoid visible scar and reduce trauma.@*Methods@#Between September 2017 and December 2018, twenty patients (two females and 18 males, mean age, 54.8 years) with oral cancer treated in the Department of Stomatology, Hainan Hospital of General Hospital of Chinese PLA were enrolled in this study. Eight patients were assigned into robotic surgery group, and received robot-assisted SOND with retroauricular hairline incision. After the da Vinci Surgical System robotic platform was positioned, the neck dissection was performed in level Ⅱb, Ⅱa, Ⅲ, Ⅰb and Ⅰa orderly from the near region to far region. The other 12 patients were assigned into traditional surgery group, and received SOND with a traditional incision. The operation time, bleeding and amount of lymph node dissected were compared between two groups.@*Results@#All the 8 cases of robot-assisted SOND were completed smoothly. Operation time [(4.5±1.0) h] was significantly longer in robotic surgery group than that [(2.5±1.0) h] in traditional surgery group (P<0.05). The amount of bleeding in robotic surgery group [30.0 (27.5) ml] was significantly lower than that in traditional surgery group [(100.0 (87.5) ml, P<0.05]. There′s no difference in the number of lymph nodes dissected between robotic surgery group (23.6±5.2) and traditional surgery group (22.8±6.0)(P>0.05). No postoperative hemorrhage, symptoms of nerve injury, flap necrosis and secondary healing were observed in robotic surgery group.@*Conclusions@#SOND through retroauricular hairline incision is feasible with the assistance of da Vinci Surgical System. The main advantage of this method is superior esthetic effects due to a hidden incision with minimal bleeding. There was no obvious differences in the amount of lymph nodes dissected and postoperative complications between two methods. However, robotic surgery costs a significantly longer operation time than traditional neck dissection.
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Objective@#To analyze genetic variant in a pedigree affected with congenital high myopia.@*Methods@#Whole exome sequencing (WES) was carried out for the proband. Suspected variation was verified with Sanger sequencing. The pedigree was also subjected to co-segregation analysis.@*Results@#WES has identified a novel splice site heterozygous variant (c.2556+ 1G>A) in the COL11A1 gene in the proband. Co-segregation analysis of the pedigree showed that the affected mother and two daughters of the proband have carried the same variant(c.2556+ 1G>A), while his unaffected father and sister did not. Based on the ACMG Standards and Guidelines for the Interpretation of Sequence Variants, the variant was classified as "likely pathogenic" (PVS1+ PM2).@*Conclusion@#A novel splice variant (c.2556+ 1G>A) of the COL11A1 gene has been identified in a pedigree affected with congenital high myopia, which probably underlies the disease.
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PURPOSE: This study aimed to evaluate the effect of delayed lactogenesis II on early milk volume in mothers expressing milk for their preterm infants. METHODS: 142 mothers with preterm infants participated in a longitudinal cohort study, the milk volumes over 14 days postpartum between mothers with delayed lactogenesis II (≥ 72 hours) and mothers with non-delayed lactogenesis II(< 72 hours) were compared using Wilcoxon's rank sum tests. RESULTS: The prevalence of delayed lactogenesis II among mothers of preterm infants was 36.0% (36/100). There existed negative correlations between the onset of lactogenesis II and the daily milk volumes(r(s) = −0.525~−0.354, p = .002 ~ p < .001). The milk volumes in every 24-hour of the 14 days postpartum in delayed group were significantly less than that in non-delayed group (p = .002 ~ p < .001). After controlling for the covariates, pregnancy-induced hypertension syndrome, delayed expression initiation, shorter daily sleeping time were found to be the risk factors for delayed lactogenesis II. CONCLUSION: Delayed lactogenesis II was associated with lower milk volume in early postpartum period. Women who were at risk for delayed lactogenesis II need targeted interventions and additional support during pregnancy and postpartum.
Subject(s)
Female , Humans , Infant, Newborn , Pregnancy , Cohort Studies , Hypertension, Pregnancy-Induced , Infant, Premature , Lactation , Milk , Milk, Human , Mothers , Postpartum Period , Premature Birth , Prevalence , Risk FactorsABSTRACT
Objective To explore the milk production and its regularity in mothers with preterm infants hospitalized in NICU during periods of mother-infant separation,and to analyze the associating factors.Methods Totally 122 mothers with preterm infants hospitalized in NICU were recruited from February to December,2017.Continuous measurements of daily breast milk production were performed.The maternal lactation related comprehensive questionnaire and Edinburgh Postnatal Depression Scale (EPDS) were used.The Pearson correlation analysis and multiple linear regression analysis were conducted using the Statistical Analysis Systems (version 9.2).Results The milk volumes for the first 14 days postpartum showed a trend of rising among mothers.The mean milk volume on day 14 postpartum was (535.43±256.97) ml.The mean initiation time of lactogenesis stage Ⅱ was (68.23±26.42) h.The correlation coefficient of lactation between day 4 and day 14 was 0.707 0(P＜0.01).The multiple linear regression analysis revealed that the pregnancy induced hypertension syndrome,initiation time of lactogenesis stage Ⅱ,EPDS score,gestational age,maternal age were the influencing factors of milk volume for mothers during periods of mother-infant separation.Conclusion The milk volume of mothers with preterm infants was relatively lower compared with mothers with full-term infants during the early stage postpartum,and the onset of lactogenesis stage Ⅱ was later.In clinical nursing work,healthcare providers should pay special attention to mothers with older maternal age,smaller gestational age,pregnancy induced hypertension syndrome,higher EPDS score,and later initiation time of lactogenesis stage Ⅱ.
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Objective To assess the prevalence and related factors of postpartum depression in mothers of preterm infants in neonatal intensive care unit (NICU).Methods A total of 83 mothers who met the inclusion and exclusion criteria were investigated by using Edinburgh Postnatal Depression Scale (EPDS) and the comprehensive questionnaire for mothers of preterm infants in NICU,and the analysis was performed on SPSS 13.0 using the Spearman correlation analysis and Logistic regression analysis.Results Among the 83 mothers,38 got the EPDS score of 10 and above,which accounted for 45.78％ (38/83).The disease severity (OR =3.318,P ＜ 0.01),the worry about disease prognosis (OR =4.348,P ＜0.01),the worry about mental development of the newborn (OR =5.420,P ＜ 0.01) were the risk factors for postpartum depression in mothers of preterm infants in NICU.Conclusions It's different from the correlation to postpartum depression in mothers of full-term newborns,the correlation to postpartum depression in mothers of preterm infants in NICU are closely related to premature and admission in NICU.The mothers of preterm infants in NICU are the high-risk population for postpartum depression.Routine screening mechanism for mothers of preterm infants should be established for early detection and treatment of postpartum depression,and to promote maternal and infant health.
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Objective To establish the breastfeeding evaluation indicator system for preterm infants and to provide theoretical basis for breastfeeding implementation and evaluation.Methods Based on literature review,clinical on-spot investigation and experts consultation,the evaluation system frame was initially formed.With specialists meeting method and Delphi study,the evaluation indicator system for preterm infants was established.Results The breastfeeding evaluation indicator system for preterm infants comprised 3 levels,with 3 indicators in level 1,7 indicators in level 2 and 18 indicators in level 3.Conclusions It is emphasized that the purpose for breastfeeding evaluation of preterm infants is to continuously improve the breastfeeding quality for preterm infants.
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Objective To understand and evaluate the early breastfeeding behaviors in preterm infants,and to analyze the evolution process of early breastfeeding behaviors in preterm infants,and therefore to provide a theoretical basis for preterm infant breastfeeding.Methods A continuous evaluation of early breastfeeding behaviors in 38 preterm infants was performed commencing on the beginning of breastfeeding and finishing on the attainment of breastfeeding.Results The earliest breastfeeding was initiated from a postmenstrual age (PMA) of 30 weeks.Obvious rooting,efficient areolar grasp,repeated short sucking bursts and irregular swallowing were noted from 31 weeks; The maximum number of consecutive sucks was limited to between 6 and 24 sucks,with a median of 18 sucks.Full breastfeeding was attained at a median of 36 weeks,between 33 and 38 weeks.Conclusions The early breastfeeding capacity in preterm infants is enhanced and becomes perfect gradually with the implementation of breastfeeding,and that is sufficient and practical for establishment of full breastfeeding at a low postmenstrual age of preterm infants.
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OBJECTIVE Employing biological and chemical monitoring methods in steam sterilization qualification tests,to assure the qualification of the steam sterilizers. METHODS BI PCD and B-D test pack for three consecutive testings in empty chamber were used to qualify steam sterilizers. RESULTS Biological and chemical monitoring methods were the most effective monitoring techniques for steam sterility assurance. CONCLUSIONS The qualification tests should be executed exactly with the introduction of steam sterilizer in OR sterile supply division to assure medical safety.
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OBJECTIVE To explore the methods of management of ethylene oxide disinfection and evaluate its effects.METHODS The biological and chemical indicatons were used to monitor the effects in the disinfection process.The operating procedures were carried out strictly.RESULTS In 150 times disinfection processes 4.6% were not up to the standards in the two kinds of indicators.The main reason was incorrect operations in the whole process.CONCLUSIONS Strictly management and correct monitoring are very important to improve the disinfection quality for safety operation.
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OBJECTIVE To explore the process safety management of the details of its application,storage and disinfection.METHODS Poutine managements of every link of the EO disinfection Process such as the responsibility,operation procedure,regularly inspection,etc were carried out.RESULTS There were no accident occured since April,2004,when the EO disinfection machine began to work.Every monitoring sign was within the permitted scope.CONCLUSIONS Strictly management of every key procedure is the safety guarantee for the whole process of EO disinfection.