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

This nursing interactive system, based on hospital information system, minimizes manual repetitions of nurses and their cross-space communication problems. It provides an accurate and intuitive information display and communication channel for clinical nursing care, which can also provide a preliminary evaluation of its application effects. On such basis, the authors propose that building such a system is a necessity in nursing informationization, as it elevates nursing efficiency, scientific management and patient safety.

Objective:Based on the analysis of case report and case series studies involving COVID-19 pregnant women in China, we aimed to discuss the updated management requirements for publication of scientific papers at hospitals in the new circumstances and context.Methods:The case report and case series studies published by domestic scholars in the early stage of COVID-19 outbreak were retrieved. Bibliometrics were used to analyze the research time, research content and research objects of the included literatures.Results:Nearly 200 cases (55%) of the 360 cases of COVID-19 pregnant women could not be clearly excluded from the possibility of repeated reporting. However, all these cases were not disclosed in the paper for possible repeated report.Conclusions:Potential repeated report problem may cause trouble for later meta-analysis, which also may have negative impact for the development of clinical guidelines. The departments of scientific research management at hospital should pay more attention to the management of patient′s data in scientific papers, so that it can better serve the accurate assessment of disease characteristics and epidemic situation, as well as the scientific formulation of clinical guidelines and control strategies.

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 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 assess the value of low-depth whole-genome copy number variation sequencing (CNV-seq) for the analysis of chromosomal copy number variations among fetuses with echogenic bowel (EB). METHODS: A total of 163 fetuses were included in this study. Amniotic fluid (162 cases) or chorionic villi (1 case) were collected and subjected to CNV-seq for the analysis of CNVs. RESULTS: Thirteen (8.0%) pathogenic CNVs were detected, including 9 (5.5%) aneuploidies and 4 (2.4%) CNVs. The detection rate of the isolated EB group and combined EB group were 1.7% (1/58) and 11.4% (12/105), respectively. There was a significant difference between the two groups (P < 0.05). A Xp22.1 duplication was detected in both groups, and the fetuses were predicted as female DMD carriers and born healthy. Nine cases of aneuploidies and 2 (likely) pathogenic CNVs were identified in the combined EB group, all of them have warranted induced labor. CONCLUSION The prevalence of chromosomal aneuploidies and pathogenic CNVs in fetuses with combined EB was much higher than isolated EB, and most of them may warrant termination of pregnancy. Compared with isolated EB, more attention should be paid to combined EB, for which prenatal diagnosis and genetic counseling should be carried out in time.
Amniotic Fluid ; Aneuploidy ; Chromosome Aberrations ; DNA Copy Number Variations ; Echogenic Bowel ; Female ; Humans ; Pregnancy ; Prenatal Diagnosis ; Technology

OBJECTIVE: To explore the genetic basis for a rare case with Disorder of sex development. METHODS: Clinical data of the patient was collected. Chromosomal karyotyping, SRY gene testing, whole exome sequencing (WES), low-coverage massively parallel copy number variation sequencing (CNV-seq), fluorescence in situ hybridization (FISH), and whole genome sequencing (WGS) were carried out. RESULTS: The patient, a 14-year-old female, had manifested short stature and dysplasia of second sex characteristics. She was found to have a 46,XY karyotype and positive for the SRY gene. No pathogenic variant was found by WES, except a duplication at Yp11.32q12. The result of CNV-seq was 47,XYY. FISH has confirmed mosaicism for a dicentric Y chromosome. A 23.66 Mb duplication on Yp11.32q11.223 and a 5.16 Mb deletion on Yq11.223q11.23 were found by WGS. The breakpoint was mapped at chrY: 23656267. The patient's karyotype was ultimately determined as 46,X,psu idic(Y)(q11.223)/46,X,del(Y)(q11.223). CONCLUSION The combination of multiple methods has facilitated clarification of the genetic etiology in this patient, which has provided a reference for the clinical diagnosis and treatment.
Female ; Humans ; Adolescent ; DNA Copy Number Variations ; In Situ Hybridization, Fluorescence ; Y Chromosome ; Sexual Development ; Mosaicism

Bio-refinery using cheap biomass focuses mainly on strain improvement and fermentation strategies whereas less effort is made on down-stream processing. Using cheap biomass more impurities are introduced into the fermentation broths than mono-sugar substrate, thus down-stream processing for bio-based chemicals becomes the key problem in industrial production. The technique called salting-out extraction (SOE) was introduced in this review, which is used to separate target products from fermentation broth on the basis of partition difference of chemicals in two phases formed by mixing salts and organic solvents (or amphipathic chemicals) with broth at suitable ratios. The effect of solvents and salts on the formation of two aqueous phases, especially short chain alcohols and inorganic salts, and the application of SOE in recovery of bio-based chemicals, such as lactic acid, 1,3-propanediol, 2,3-butanediol and acetoin were summarized. The bio-chemicals were efficiently recovered from fermentation broth, and most of the impurities (cells and proteins) were removed in the same step. This technique is promising in the separation of bio-based chemicals, especially the recovery of hydrophilic molecules with low molecular weights.
Butylene Glycols ; isolation & purification ; metabolism ; Chemical Fractionation ; methods ; Fermentation ; Lactic Acid ; isolation & purification ; metabolism ; Osmolar Concentration ; Propylene Glycols ; isolation & purification ; metabolism ; Sodium Chloride ; chemistry ; Solvents ; chemistry

ObjectiveTo investigate the effect of high-definition transcranial direct current stimulation (HD-tDCS) combined with rehabilitation robot on upper limb and hand dysfunction in patients with subacute stroke. MethodsFrom December, 2019 to December, 2021, 50 inpatients with subacute stroke in Zhejiang Provincial People's Hospital were randomly divided into control group (n = 25) and experimental group (n = 25). Both groups received routine rehabilitation therapy, while the control group added sham HD-tDCS combined with rehabilitation robot, and the experimental group added HD-tDCS combined with rehabilitation robot, for four weeks. The upper limb and hand function was assessed with Action Research Arm Test (ARAT), Fugl-Meyer Assessment-Upper Extremities (FMA-UE) and Motor Assessment Scale (MAS) before and after treatment. ResultsAfter treatment, the scores of ARAT, FMA-UE and MAS increased in the two groups (∣Z∣ > 3.320, t > 6.379, P < 0.01), while the scores of FMA-UE and MAS were higher in the experimental group than in the control group (Z = -2.379, t = 3.181, P < 0.05), as well as the scores of grasping and gross motor of ARAT (∣Z∣ > 2.033, P < 0.05). ConclusionThe combination of HD-tDCS and rehabilitation robot can be more effective on upper limb and hand function in patients with subacute stroke than rehabilitation robot alone.

Objective     To investigate the current status of constipation during postoperative hospitalization and the factors associated with moderate to severe constipation at discharge in lung cancer patients. Methods     Lung cancer patients who underwent surgery in 6 tertiary hospitals in Sichuan Province from November 2017 to January 2020 were enrolled. The MD Anderson Symptom Scale-Lung Cancer Module was used to collect postoperative constipation scores. Unconditional logistic stepwise regression was used to analyze the related influencing factors for moderate to severe constipation on the day of discharge. Results     Finally 337 patients were collected. There were 171 males and 166 females, with an average age of 55.0±10.3 years. Constipation scores of lung cancer patients increased from postoperative day 1 to day 3, and showed a decreasing trend from day 3 to day 7. Moderate to severe constipation was present in 68 (20.2%) patients at discharge. The postoperative hospital stay (OR=0.743, P<0.001) and the dose of morphine used during postoperative hospitalization (OR=1.002, P=0.015) were influencing factors for moderate to severe constipation at discharge in lung cancer patients. Conclusion    Lung cancer patients have the most severe constipation on postoperative day 3. Moderate to severe constipation at discharge is associated with the postoperative hospital stay and the dose of morphine used during postoperative hospitalization.