Objective To analyze the computed tomography(CT)and magnetic resonance imaging (MRI)appearances of primary clear cell carcinoma of the liver (PCCCL)and evaluate the value in the diagnosis of the disease.Methods CT and MR images of 38 patients of pathologically confirmed PCCCL were evaluated retrospectively.Twenty-six patients underwent CT,23 underwent MRI, and 1 1 underwent both CT and MRI.Results In pre-contrast CT scanning,24 PCCCLs appeared hypodense and 2 hyperdense.As for MRI 1 9 of the 23 PCCCLs were hypointense and 4 were iso-hypointense on T1 WI.While on T2 WI,22 cases were heterogeneously hyperintense,and 1was iso-hypointense.On the arterial phase of CT/MRI,all cases presented intense enhancement,and on the portal venous phase,35 cases(35/38,92.1%)were relatively hypodense/hypointense and 3 were slightly hyperdense/hyperintense.Among the tumors larger than 3 cm(n=22),nodular enhancement pattern was found in 14 cases(63.6%,14/22).The capsular rim en-hancement was demonstrated in 26 cases.Conclusion PCCCL showed similar dynamic enhancement pattern as common hepatocellu-lar carcinoma,but also depicted specific imaging features.

Turnner syndrome is a common sex chromosome disorder. We reported a rare case with Turnner syndrome caused by abnormal number and structure of sex chromosomes. Hereby fluorescence in situ hybridization (FISH) and copy number variation by whole genome low depth sequencing (CNV-seq) were used to clarify the abnormal chromosome. This study provides a diagnostic strategy for clinicians and genetic researchers.

OBJECTIVE: To detect genomic copy number variations (CNVs) among 145 children with unexplained mental retardation/developmental delay (MR/DD) by using low-depth whole-genome copy number variation sequencing (CNV-seq). METHODS: Peripheral blood samples were collected from the patients and subjected to DNA extraction and CNV-seq. The results were analyzed by a combination of bioinformatic tools. RESULTS: Forty-nine patients were found to carry a total of 67 CNVs with an average size of 5.27 Mb. Among these, 22 patients were assessed to carry MR/DD-related CNVs involving 21 syndromes. This gave a diagnostic rate of 15.17%(22/145) for CNVs associated with unexplained MR/DD. The corresponding regions of the 22 MR/DD-related CNVs in the human genome covered 174 MR/DD-related pathogenic genes, which have mapped to 18 sections on 10 chromosomes. CONCLUSION Genomic CNVs-related microdeletions/duplications account for a significant proportion of unexplained MR/DD, for which CNV-seq can provide an accurate diagnosis.

OBJECTIVE: To explore cytogenetic characteristics and fertility of carriers of complex chromosome rearrangements (CCR) from Henan region. METHODS: G-banded karyotyping analysis was carried out on peripheral blood lymphocytes derived from 160 601 patients with reproductive abnormalities. Relevant literature was retrieved from domestic and overseas databases. Cytogenetic characteristics and clinical data of CCR carriers were analyzed. RESULTS: Twenty-seven CCR carriers were identified among the 160 601 patients. In addition, 6 cases were identified from the database research. Among the 33 CCR carriers, there were 17 three- and four-way exchange cases (51.5%), 10 double two-way exchange cases (30.3%), and 6 unusual CCRs (18.2%). Infertility was noted in 14 (42.4%) of the CCR carries. A total of 38 pregnancies were achieved in the remaining 19 cases (57.6%), among which spontaneous abortions or embryonic losses have occurred in 89.5% (34/38), multiple congenital abnormalities have occurred in 7.9% (3/38), while phenotypically normal offspring have occurred in 2.6% (1/38). Chromosomes 1, 11, 2, 4, 5 and 12 were more frequently involved, with their breakpoints occurred more than 3 times at 1p22, 11q23, 12p13 and 22q11. CONCLUSION CCR carriers are at a higher risk for abnormal pregnancies. Even for those with normal pregnancy, prenatal diagnosis should be provided. Chromosomes and their breakpoints involved in CCR may affect the fertility of CCR carriers. Analyzing the types of CCR and involved chromosomes and breakpoints can facilitate genetic counseling for CCR carriers.
Chromosome Aberrations ; Cytogenetic Analysis ; Female ; Fertility ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Pregnancy ; Translocation, Genetic

OBJECTIVE: To analyze the prenatal diagnosis, parental verification and pregnancy outcome of 6 fetuses with 22q11.2 microdeletion syndrome. METHODS: Copy number variation sequencing (CNV-seq)and chromosomal microarray analysis (CMA) were carried out for the fetuses. RESULTS: The fetuses were found to harbor 2.54-3.2 Mb microdeletions of the 22q11.2 region, among which one was maternally inherited and one was paternally inherited. Two parents opted to continue with the pregnancy, and 4 chose induced labor. One fetus was found to have tetralogy of Fallot, while two carrier parents and one fetus appeared to have normal phenotype. CONCLUSION 22q11.2 microdeletions identified upon prenatal diagnosis should be treated carefully, with ultrasonic scan and parental verification taken into account.
DNA Copy Number Variations ; Female ; Fetus ; Humans ; Microarray Analysis ; Pregnancy ; Pregnancy Outcome ; Prenatal Diagnosis ; Ultrasonography, Prenatal

OBJECTIVE: To assess the value of copy number variation sequencing (CNV-seq) for the diagnosis of children with disorders of sex development (DSD). METHODS: Five children with DSD who presented at the First Affiliated Hospital of Zhengzhou University from October 2019 to October 2020 were enrolled. In addition to chromosomal karyotyping, whole exome sequencing (WES), SRY gene testing, and CNV-seq were also carried out. RESULTS: Child 1 and 2 had a social gender of female, whilst their karyotypes were both 46,XY. No pathogenic variant was identified by WES. The results of CNV-seq were 46,XY,+Y (1.4) and 46,XY,-Y (0.75), respectively. The remaining three children have all carried an abnormal chromosome Y. Based on the results of CNV-seq, their karyotypes were respectively verified as 45,X[60]/46,X,del(Y)(q11.221)[40], 45,X,16qh+[76]/46,X,del(Y)(q11.222),16qh+[24], and 45,X[75]/46,XY[25]. CONCLUSION CNV-seq may be used to verify the CNVs on the Y chromosome among children with DSD and identify the abnormal chromosome in those with 45,X/46,XY. Above results have provided a basis for the clinical diagnosis and treatment of such children.
Humans ; Child ; Female ; DNA Copy Number Variations ; Chromosome Aberrations ; Karyotyping ; Exome Sequencing ; Disorders of Sex Development/genetics*

OBJECTIVE: To analyze the clinical symptom and parental origin of patients with MECP2 duplication syndrome in order to provide a basis for genetic counseling and prenatal diagnosis. METHODS: Clinical symptoms of four patients who were diagnosed with MECP2 duplication syndrome by copy number variation sequencing (CNV-Seq) were reviewed. The maternal origin of the duplications were verified. RESULTS: All patients were males, and CNV-Seq revealed that they have all harbored a duplication in the Xq28 region spanning 0.32 ~ 0.86 Mb, which were derived from asymptomatic mothers. The clinical symptoms of three patients with three copies included delayed speech, intellectual disability, and muscular hypotonia, while the patient with four copies had died at 6 months after birth, with clinical symptoms including recurrent infections, seizures, and spasticity. CONCLUSION The four cases of MECP2 duplication syndrome have shown complete penetrance and have all derived from asymptomatic mothers. As a stable and reliable method, CNV-Seq can accurately detect the MECP2 duplication syndrome.
Chromosomes, Human, X ; DNA Copy Number Variations ; Gene Duplication ; Humans ; Male ; Mental Retardation, X-Linked ; Methyl-CpG-Binding Protein 2/genetics* ; Phenotype

OBJECTIVE:To compare in vitro percutaneous permeation characteristics of glycyrrhizic acid in 6 kinds of glycyrrhetate creams,and to provide reference for further development and utilization. METHODS:Modified Franz diffusion cell and isolated rat skin were adopted for in vitro percutaneous permeation test. 24 h accumulative permeation of glycyrrhizic acid in 6 kinds of glycyrrhetate creams(monoammonium glycyrrhizinate,diammonium glycyrrhizinate,monopotassium glycyrrhizinate, dipotassium glycyrrhizate,trisodium glycyrrhizinate,disodium glycyrrhetate)were determined by HPLC. The permeation characteristics of 6 kinds of glycyrrhetate creams were evaluated by calculating percutaneous absorption rate. RESULTS:24 h accumulative permeation of 6 kinds of glycyrrhetate in rat skin in descending order was as follows:trisodium glycyrrhizinate (23.933 μ g/cm2)>dipotassium glycyrrhizinate(22.952 μ g/cm2)>disodium glycyrrhizinate(15.424 μ g/cm2)>monopotassium glycyrrhizinate(10.703 μg/cm2)>diammonium glycyrrhizinate(9.557 μg/cm2)>monoammonium glycyrrhizinate(1.621 μg/cm2). The percutaneous permeation rate in descending order was as follows as trisodium glycyrrhizinate [1.010 2 μ g/(cm2·h)]>dipotassium glycyrrhizinate [0.974 5 μg/(cm2·h)]>disodium glycyrrhizinate [0.641 2 μg/(cm2·h)]>diammonium glycyrrhizinate [0.399 9 μg/(cm2·h)]>monopotassium glycyrrhizinate[0.362 8 μg/(cm2·h)]>monoammonium glycyrrhizinate[0.072 6 μg/(cm2·h)]. CONCLUSIONS:The permeation rate of trisodium glycyrrhizinate is the highest among 6 kinds of glycyrrhetate creams in vitro.

OBJECTIVE: To analyze the clinical phenotype and genetic variants in five Chinese pedigrees affected with Dysferlinopathy. METHODS: Next generation sequencing (NGS) was carried out for the probands from the five pedigrees. Suspected variants were validated by Sanger sequencing. Pathogenicity of the variants was assessed based on the standards and guidelines by the American College of Medical Genetics and Genomics (ACMG). RESULTS: Ten DYSF gene variants (including 5 frameshift variants, 3 splicing variants, 1 missense variant and 1 nonsense variant) were detected. Among these, c.1375dupA (p.Met459Asnfs*15), c.610C>T (p.Arg204X), c.1180+5G>A and c.1284+2T>C were known to be pathogenic, while c.4008_4010delCCTinsAC (p.Leu1337Argfs*8), c.1137_1169del (p.379_390del), c.754A>G(p.Thr252Ala), c.1175_1176insGCAGAGTG (p.Met394Serfs*7), c.3114_3115insCGGC (p.Arg1040Profs*74) and c.1053+3G>C were unreported previously. Of the six novel variants, c.1137_1169del, c.1175_1176insGCAGAGTG and c.3114_3115insCGGC were predicted as pathogenic (PVS1+PM2+PM3), c.4008_4010delCCTinsAC as likely pathogenic (PVS1+PM2), c.754A>G and c.1053+3G>C as variants of uncertain significance based on the ACMG standards and guidelines. CONCLUSION Variants of the DYSF gene probably underlay Dysferlinopathy in the patients among the five pedigrees. Above finding has enriched the spectrum of DYSF gene variants.
Humans ; Muscular Dystrophies, Limb-Girdle/genetics* ; Mutation ; Pedigree ; Phenotype ; RNA Splicing

Objective To summarize the nursing experience of delayed closure of chest with acute renal injury after switch operation and underwent peritoneal dialysis in neonates and to improve the therapeutic effect. Methods To summarize the curative effects and perioperative nursing experience of one case of the complete transposition of great arteries with intact interventricular septum neonate who underwent delayed closure of chest with acute renal injury and peritoneal dialysis after Switch operation under general anesthesia and extracorporeal circulation in November 2017 in our department. Results The child was postponed to close the chest after surgery. Low cardiac output syndrome and acute renal function injury occurred 1 hour after operation. Through monitoring hemodynamic indexes during ICU, the child recovered after timely treatment of low cardiac output syndrome, maintaining stabilization of circulation, diuresis, peritoneal dialysis, keeping water, electrolyte and acid-base balance, nursing care for delayed closure of chest and other related treatment. Postoperative assisted mechanical ventilation time was 168 hours, postoperative ICU hospitalization time was 12 days, and postoperative total hospitalization time was 19 days. Conclusion The infants who have complete transposition of the great arteries and the intact interventricular septum after Switch operation have many complications and rapid changes in the state of illness. Rigorous and meticulous nursing plays a key role in reducing the postoperative complications and improving the achievement ratio of the operation.