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Objective:To explore the genetic etiology for a premature ovarian insufficiency (POI) patient from a consanguineous Chinese family, and to provide basis for genetic counseling and fertility counseling.Methods:Whole-exome sequencing was performed using DNA extracted from the blood sample of POI patient. Suspected pathogenic mutation was analyzed by bioinformatics methods and verified by Sanger sequencing. The pathogenicity of the variation was assessed according to the ACMG genetic variation classification criteria and guidelines.Results:A homozygous variation, c. 32G>T (p.G11V), of PSMC3IP was identified in the patient. Bioinformatics analysis revealed that the variation was conserved in different animal species, and this variation was classified as possible pathogenic variation according to the ACMG genetic variation classification criteria and guidelines.Conclusions:The homozygous missense variation of PSMC3IP is the cause of the POI patient in this family. We are reporting for the first time the missense variation in PSMC3IP gene caused POI, which enriched the mutation spectrum of PSMC3IP and provided the basis for genetic counseling and fertility guidance of this family.
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Objective@#To explore whether the lung ultrasound(LUS) score can be used to assess and predict the criticality of neonates with pulmonary disease at an early stage.@*Methods@#The newborns born in the obstetrics department of Affiliated Hospital of Jining Medical University from April to October 2018 were transferred to the neonatal intensive care unit due to respiratory distress. The children underwent LUS examination and scoring at 2 hours after birth. The correlation analysis were performed between LUS score and neonatal critical illness score (NCIS ), NCIS+ single index, respectively. And the ROC curve was used to analyze the value of LUS score in predicting neonatal criticality.@*Results@#①The LUS score of non-critical neonates was significantly lower than that of critically ill newborns, the difference was statistically significant (P=0.005); LUS score was an independent risk factor for critical neonates (OR=1.71, 95% CI: 1.059-2.765, P=0.028). ②The correlation coefficient between LUS score and NCIS was -0.48 (P=0.002). The correlation coefficient between the LUS score and the NCIS+ single index was -0.44 (P=0.005). ③The area under the ROC curve of LUS score predicting neonatal criticality was 0.88 (95% CI: 0.725-0.965, P<0.000 1), the optimal diagnostic threshold was 6 points with sensitivity of 80% and specificity of 100%.@*Conclusions@#The LUS score at a postnatal age of 2 hours after birth can early assess and predict the criticality of neonates with pulmonary disease. And the LUS score greater than 6 has the highest diagnostic value.
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Objective To explore whether the lung ultrasound( LUS) score can be used to assess and predict the criticality of neonates with pulmonary disease at an early stage . Methods T he new borns born in the obstetrics department of Affiliated Hospital of Jining M edical University from April to October 2018 were transferred to the neonatal intensive care unit due to respiratory distress . T he children underwent LUS examination and scoring at 2 hours after birth . T he correlation analysis were performed between LUS score and neonatal critical illness score ( NCIS ) ,NCIS +single index ,respectively . And the ROC curve was used to analyze the value of LUS score in predicting neonatal criticality . Results ①T he LUS score of non‐critical neonates was significantly lower than that of critically ill newborns , the difference was statistically significant ( P ＝0 .005) ; LUS score was an independent risk factor for critical neonates ( OR＝1 .71 ,95%CI :1 .059－2 .765 , P ＝ 0 .028 ) . ② T he correlation coefficient between LUS score and NCIS was －0 .48 ( P ＝0 .002) . T he correlation coefficient between the LUS score and the NCIS + single index was －0 .44 ( P＝0 .005) . ③T he area under the ROC curve of LUS score predicting neonatal criticality was 0 .88 ( 95%CI :0 .725－0 .965 , P ＜0 .000 1) ,the optimal diagnostic threshold was 6 points with sensitivity of 80% and specificity of 100% . Conclusions The LUS score at a postnatal age of 2 hours after birth can early assess and predict the criticality of neonates with pulmonary disease . And the LUS score greater than 6 has the highest diagnostic value .
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<p><b>OBJECTIVE</b>To determine the molecular etiology for a Chinese pedigree affected with epidermolysis bullosa simplex (EBS).</p><p><b>METHODS</b>Target region sequencing using a hereditary epidermolysis bullosa capture array combined with Sanger sequencing and bioinformatics analysis were used. Mutation taster, PolyPhen-2, Provean, and SIFT software and NCBI online were employed to assess the pathogenicity and conservation of detected mutations. One hundred healthy unrelated individuals were used as controls.</p><p><b>RESULTS</b>Target region sequencing showed that the proband has carried a unreported heterozygous c.1234A>G (p.Ile412Val) mutation of the KRT14 gene, which was confirmed by Sanger sequencing in other 8 affected individuals but not among healthy members of the pedigree. Bioinformatics analysis indicated that the mutation is highly pathogenic. Remarkably, 3 members of the family (2 affected and 1 unaffected) have carried a heterozygous c.1237G>A (p.Ala413Thr) mutation of the KRT14 gene, which was collected in Human Gene Mutation Database (HGMD). Bioinformatics analysis indicated that the mutation may not be pathogenic. Both mutations were not detected among the 100 healthy controls.</p><p><b>CONCLUSION</b>The novel c.1234A>G(p.Ile412Val) mutation of the KRT14 gene is probably responsible for the disease, while c.1237G>A (p.Ala413Thr) mutation of KRT14 gene may be a polymorphism. Compared with Sanger sequencing, target region capture sequencing is more efficient and can significantly reduce the cost of genetic testing for EBS.</p>