Objective To investigate the ultrasound imaging findings of anatomical relationship between femoral artery and vein in children of different ages.Methods Sixty-five children aged 4 months-7 years were enrolled in this study.The children were divided into 3 age groups: group Ⅰ＜ 1 yr;group Ⅱ 1-3 yr and group Ⅲ＞ 3,≤ 7 yr.A protable ultrasound machine was used.The probe was placed at the level of inguinal ligament and 2 and 4 cm below inguinal ligament.The children were placed in supine position.The legs were placed in 2 positions:(1)extended and in standard anatomical position and(2)flexed and 45° abducted and 45° laterally rotated.Results The examination showed that at the level of inguinal ligament,the femoral vein lay behind and lateral to femoral artery in 91% of children.At the level of 4 cm below inguinal ligament,the femoral vein lay posterior and lateral to the femoral artery in all children.When the leg was placed in abducted and laterally rotated,the depth of femoral vein was reduced and the vein was less overlapped by artery in all children,especially in preschool children.Conclusion At the level of 4 cm below inguinal ligament,the femoral vein lies posterior and lateral to the femoral artery in children.When the leg is placed in abducted and laterally rotated,the depth of femoral vein is reduced and the vein is less overlapped by artery.It is indicated that femoral vein puncture should be performed at the level of 4 cm below inguinal ligament with the leg flexed and abducted in all children,especially in preschool children.

Objective To investigate the incidence of neonatal hyperphenylalaninemia(HPA)and analyze the characteristics of HPA gene mutations in the Yangzhou area.Methods From Janu-ary 2013 to December 2022,285,549 newborns in Yangzhou were screened for HPA using either the ninhydrin fluorescence method or tandem mass spectrometry.Urinary pterin analysis,erythrocyte di-hydrobiopterin reductase activity measurement and genetic diagnosis were performed to screen positive individuals.Results A total of 29 cases were confirmed as HPA,including 3 cases of tetrahydro-biopterin(BH4)deficiency and 26 cases of phenylalanine hydroxylase(PAH)deficiency.The over-all incidence of HPA in Yangzhou was 1/9,847,with the incidence of PAH deficiency being 1/10,983,which were slightly higher than the national average but lower than other regions in Jiangsu Prov-ince.Among the cases,13(44.83％)were classic phenylketonuria(PKU),7(24.14％)were mild PKU,and 6(20.69％)were mild HPA.Sixteen patients with PAH gene mutations were all com-pound heterozygotes,with one case exhibiting three-site mutations.PAH gene mutations were predomi-nantly missense mutations,primarily concentrated in exon 7,followed by exon 6,with E7 c.728G＞A(21.21％)being the most frequent mutation.Three cases of BH4 deficiency were detected with PTS gene mutations,including 1 homozygous mutation and 2 compound heterozygous mutations.E5 c.259C＞T was the high-frequency PTS mutation gene in Yangzhou.Conclusion HPA has a certain incidence in Yangzhou,with classic PKU being the predominant type.This study clarified the characteristics of PAH and PTS gene mutations in Yangzhou,enriching the HPA gene database.

Objective To investigate the incidence of neonatal hyperphenylalaninemia(HPA)and analyze the characteristics of HPA gene mutations in the Yangzhou area.Methods From Janu-ary 2013 to December 2022,285,549 newborns in Yangzhou were screened for HPA using either the ninhydrin fluorescence method or tandem mass spectrometry.Urinary pterin analysis,erythrocyte di-hydrobiopterin reductase activity measurement and genetic diagnosis were performed to screen positive individuals.Results A total of 29 cases were confirmed as HPA,including 3 cases of tetrahydro-biopterin(BH4)deficiency and 26 cases of phenylalanine hydroxylase(PAH)deficiency.The over-all incidence of HPA in Yangzhou was 1/9,847,with the incidence of PAH deficiency being 1/10,983,which were slightly higher than the national average but lower than other regions in Jiangsu Prov-ince.Among the cases,13(44.83％)were classic phenylketonuria(PKU),7(24.14％)were mild PKU,and 6(20.69％)were mild HPA.Sixteen patients with PAH gene mutations were all com-pound heterozygotes,with one case exhibiting three-site mutations.PAH gene mutations were predomi-nantly missense mutations,primarily concentrated in exon 7,followed by exon 6,with E7 c.728G＞A(21.21％)being the most frequent mutation.Three cases of BH4 deficiency were detected with PTS gene mutations,including 1 homozygous mutation and 2 compound heterozygous mutations.E5 c.259C＞T was the high-frequency PTS mutation gene in Yangzhou.Conclusion HPA has a certain incidence in Yangzhou,with classic PKU being the predominant type.This study clarified the characteristics of PAH and PTS gene mutations in Yangzhou,enriching the HPA gene database.