Clinical characteristics and genetic analysis of a fetus with Melnick-Needles syndrome due to variant of FLNA gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical and genetic characteristics of a fetus with Melnick-Needles syndrome (MNS).@*METHODS@#A fetus with MNS diagnosed at Ningbo Women and Children's Hospital in November 2020 was selected as the study subject. Clinical data was collected. Pathogenic variant was screened by using trio-whole exome sequencing (trio-WES). Candidate variant was verified by Sanger sequencing.@*RESULTS@#Prenatal ultrasonography of the fetus had shown multiple anomalies including intrauterine growth retardation, bilateral femur curvature, omphalocele, single umbilical artery, and oligohydramnios. Trio-WES revealed that the fetus has harbored hemizygous c.3562G>A (p.A1188T) missense variant of the FLNA gene. Sanger sequencing confirmed that the variant was maternally derived, whilst its father was of a wild type. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was predicted to be likely pathogenic (PS4+PM2_Supporting+PP3+PP4).@*CONCLUSION@#The hemizygous c.3562G>A (p.A1188T) variant of the FLNA gene probably underlay the structural abnormalities in this fetus. Genetic testing can facilitate accurate diagnosis of MNS and provide a basis for genetic counseling for this family.

The effect of curative and uterine cervical shaping of different loop electrosurgical excision procedure in treatment of chronic cervicitis / 中国医师进修杂志

Objective To investigate the effect of curative and uterine cervical shaping of different loop electrosurgical excision procedure (LEEP) in treatment of chronic cervicitis.Methods Selected 369 patients with chronic cervicitis,and they were divided into shallow ring excision (SRE) group (123 patients),deep ring excision (DRE) group (123 patients) and LEEP conization (LEEPC) group(123 patients).In each group,they were divided into three subgroups according to the degree and type of erosion.The clinical efficacy of three groups were compared after treatment of 3 months.Results The recovery rate of mild uterine cervical erosion with symptom and midrange uterine cervical erosion,granular pattern uterine cervical erosion and simple uterine cervical erosion among three groups had no significant difference (P ＞ 0.05).In LEEPC group,the recovery rate of severe and mastoid uterine cervical erosion were significantly higher than those in SRE group and DRE group [80.49％ (33/41) vs.63.41％ (26/41) and 58.54％ (24/41),88.24％ (45/51) vs.71.43％ (40/56) and 74.55％ (41/55)] (P ＜ 0.05).The satisfactory rate of uterine cervical shaping among three groups had no significant difference (P ＞ 0.05).Conclusions The three kinds of LEEP have a higher satisfactory rate of uterine cervical shaping.However,different surgical procedure on different level and different type have different efficacy.Clinicians need to choose the right surgery according to the patient's condition.