Objective:To assess the value of combined chromosomal karyotyping and chromosomal microarray analysis (CMA) and/or copy number variation sequencing (CNV-seq) for the prenatal diagnosis for women with advanced maternal ages, and to explore the challenges of prenatal genetic counseling brought by the types of fetal CNVs and uncertainty of related phenotypes.Methods:A retrospective analysis was carried out on 1 841 women with advanced maternal age who underwent interventional prenatal diagnosis at the Prenatal Diagnosis Center of Xiamen University Affiliated Women and Children′s Hospital from January 2017 to December 2020. Routine chromosomal karyotyping analysis and CMA/CNV-seq detection were carried out.Results:CMA/CNV-seq had detected pathogenic variants in 2 cases which had failed karyotyping analysis. Two hundred and twenty one fetal chromosomal abnormalities were detected by karyotyping analysis, among which 187 were detected by CMA/CNV-seq. CMA/CNV-seq analysis of 23 cases with balanced chromosome structural aberrations and 10 cases with low proportion mosaicisms (including a marker chromosome) had yielded a negative result. In addition, 26 cases (26/1 841, 1.4%) with pathogenic CNVs were discovered among those with a normal karyotype, of which 13 (50.0%) were recurrent CNVs associated with neurocognitive impairment, with 22q11.21 microdeletions and microduplications being the most common types (26.92%).Conclusion:The combination of karyotyping analysis and CMA/CNV-seq not only increased the rate of prenatal diagnosis, but also complemented with each other, which has facilitated genetic counseling and formulation of prenatal diagnosis strategy for the affected families.

Objective:To investigate the clinical effects of adjustable external fixation traction combined with arthroscopic microfracture in the treatment of osteochondral lesions of the talus (OLT).Methods:A retrospective study was conducted to analyze the data of 27 OLT patients who had been treated at Department of Orthopedics, Beijing Rehabilitation Hospital from May 2017 to March 2022. There were 16 males and 11 females, aged (32.4±7.2) years. Lesion site: 23 medial and 4 lateral cases; Hepple staging: 7 cases at stage Ⅰ, 15 cases at stage Ⅱ, and 5 cases at stage Ⅲ; disease duration: (10.6±3.3) months. All the patients were treated by adjustable external fixation traction combined with arthroscopic microfracture. Recorded were the patients' visual analogue scale (VAS) pain scores and American Orthopedic Foot and Ankle Society (AOFAS) ankle-hindfoot scores at 6 months and 12 months after surgery, levels of interleukin-1 (IL-1), interleukin-6 (IL-6) and tumour necrosis factor- α (TNF- α) at 1 month after surgery, lesion area at 12 months after surgery, and incidence of complications. Results:The follow-up time for this cohort was (16.2±6.7) months. The AOFAS score was (61.52±6.75) points before surgery, (84.15±5.56) points at 6 months after surgery and (95.67±4.30) points at 12 months after surgery. The VAS score was (5.88±1.02) points before surgery, (2.12±0.48) points at 6 months after surgery and (0.66±0.36) points at 12 months after surgery. The two-by-two comparisons between the 3 time points for the above items were statistically significant ( P<0.05). IL-1 was (32.37±6.64) pg/mL, IL-6 (34.04±7.12) pg/mL, and TNF- α (17.89±4.96) ng/L at 1 month after surgery in the 27 patients, all of which were significantly lower than their preoperative levels [(96.63±14.80) pg/mL, (102.33±20.42) pg/mL, and (54.48±9.33) ng/L] ( P<0.05). The lesion area was (28.66±6.52) mm 2 at 12 months after surgery, significantly smaller than the value before surgery [(128.52±11.32) mm 2] ( P<0.05). Infection at the adjustable external fixation needle track occurred in 1 patient and lower limb thrombosis in 2 patients. Conclusion:In the treatment of OLT, adjustable external fixation and traction combined with arthroscopic microfracture can achieve satisfactory results and improve symptoms for the patients.

OBJECTIVE: To investigate the perinatal clinical phenotype and genetic characteristics of two fetuses with ring chromosome 21 mosaicisms. METHODS: Two fetuses who were diagnosed at the Xiamen Maternal and Child Health Care Hospital in November 2021 were selected as the study subjects. Clinical data of the two fetuses were collected. Conventional G-banded karyotyping and chromosomal microarray analysis (CMA) were carried out for the fetuses and their parents. RESULTS: Prenatal ultrasonography of fetus 1 has revealed absence of nasal bone, ventricular septal defect, persistent left superior vena cava, and mild tricuspid regurgitation. Chromosomal karyotyping was 46,X?,dic r(21;21)(p12q22;q22p12)[41]/45,X?,-21[9]. CMA has revealed a 30.00 Mb quadruplication at 21q11.2q22.3 and a 3.00 Mb deletion at 21q22.3. For fetus 2, ultrasonography has revealed pointed echo of the nasal bone. The fetus was found to have a karyotype of 46,X?,r(21)(p12q22)[83]/45,X?,-21[14]/46,X?,dic r(21;21)(p12q22;q22p12)[3]. CMA has revealed a 5.10 Mb quadruplication at 21q22.12q22.3 and a 2.30 Mb deletion at 21q22.3. CONCLUSION The perinatal phenotype of the two fetuses with ring chromosome 21 mosaicisms is related to the duplication of chromosomal segments near the breakpoints of the chromosomal deletions. The combined chromosomal karyotyping and CMA has enabled prenatal diagnosis and genetic counseling for these families.
Pregnancy ; Female ; Humans ; Mosaicism ; Ring Chromosomes ; Vena Cava, Superior ; Chromosome Aberrations ; Prenatal Diagnosis ; Microarray Analysis ; Fetus/diagnostic imaging*

Objective:To explore the method of ultrasonography for detecting the fetal umbilical vein diameter, blood flow volume and normalized volume blood flow and establish normal reference ranges with umbilical vein diameter, blood flow volume and normalized blood flow and Z-scores for umbilical vein diameter and blood volume flow.Methods:This was a prospective study on 907 normal fetuses in the Second Xiangya Hospital, Central South University and Women and Children Healthcare Hospital of Zhuzhou from March 2019 to December 2020. The umbilical vein diameter (Duv), umbilical vein blood flow volume (Quv) and normalized volume blood flow (nQ = Quv/estimated fetal weight) of the free loop of umbilical vein (FUV) and fetal intra-abdominal umbilical vein (IUV) were collected. And the mean values and 90% confidence intervals of Duv, Quv and nQ in two segments of umbilical veins at different gestational ages were calculated. Regression analysis of Duv, Quv and nQ were performed with gestational age (GA), and the parameters of umbilical vein in different segments were compared. Finally, with gestational age (GA) as the independent variable, Z-scores of the Duv and Quv were built.Results:The mean values and 90% confidence intervals of Duv, Quv, and nQ in 858 (94.6%) normal fetal umbilical veins were successfully obtained. The Duv, Quv of the FUV and IUV increased as pregnancy progressed. The Quadratic curve of Duv and Linear curve of Quv were of the highest fitnesses, respectively( r=0.951, 0.941, 0.986, 0.982; all P<0.001). While nQ increased with GA followed by a decreased trend, and the Quadratic curve was the highest fitting curve of nQ( r=0.610, 0.611; all P<0.001). Duv-FUV was greater than Duv-IUV( P<0.001), nQ-FUV was bigger than Quv-IUV( P=0.001), and he difference was not statistically significant between Quv-FUV and Quv-IUV( P=0.133). Z-scores models of Duv and Quv were successfully established, and all Z-scores were Gaussian distribution. Conclusions:The normal ranges and Z-scores of umbilical vein parameters are useful to improve the evaluation of placental circulation and provide a strong basis for the monitoring of fetus-related diseases and the evaluation of pregnancy prognosis. The choice of FUV or IUV umbilical vein to evaluate placental circulation may depend on the actual situation in clinical application.

Since 2016, enrollment of students for optometry & ophthalmology specialty of five-year program has expanded in China, and China Medical university has become the pioneer to recruit students to this major in Northeast China. With reference to our national situation, this paper focuses on how to help students form good professional ethics, gain professional knowledge, professional skills and scientific research ability, so as to enable them not only grasp basic theories and skills of clinical medicine, but also be skilled at optometry & ophthalmology; the construction of systematic curriculum of optometry & ophthalmology should be actively explored with the aim of comprehensive medical education as the foundation, systematic education of optometry & ophthalmology as its unique feature and education of humanistic medicine as the concept". Therefore, we innovatively put forward a teaching model of "basic-core of clinical medicine-professional direction and characteristic development courses", thus to provide a reference for training applied and compound Optometrists and ophthalmologists who are urgently in need at present in China.

Objective:To investigate the ultrasonographic features and prognosis of fetal vascular anomalies.Methods:Thirty-one fetuses with vascular anomalies diagnosed from June 2013 to August 2018 in Changsha Hospital for Maternal and Child Health Care were retrospectively analyzed. The location, size, shape, internal echo and blood flow distribution of the lesions were observed by ultrasound carefully, and the prognosis was followed up and analyzed.Results:Among the 31 cases of fetal vascular anomalies, 10 cases were comfirmed by autopsy after induced labor, and 21 cases were confirmed by postpartum local observation or surgery and pathology. Among them, there were 4 cases of Klippel-Trenaunay syndrome (including 1 case of Parkes-Weber syndrome), 3 cases of hemangioma, 1 case of primary congenital lymphedema and 23 cases of lymphangioma. Thirty-one cases showed lesions coincident with ultrasound localization and diagnosis, including 9 cases of head and neck lesions, 15 cases of trunk lesions, 1 case of upper limb lesion and 6 cases of lower limb lesions. The blood flow spectra of arteriovenous fistulas were found in 3 cases of fetal lesions and no obvious blood flow signals were found in 28 cases of fetal lesions.Conclusions:Prenatal ultrasound examination and follow-up play an important role in the diagnosis and prognostic prediction of fetal vascular diseases. The prognosis of fetal vascular diseases is closely related to the location, size, effect on the surrounding tissue and shunt volume of the lesion.

Objective:To explore the variation of renal volume with gestational age(GA), biparietal diameter(BPD), abdominal circumference(AC), femur length (FL) and the Z value calculation formula.Methods:Five hundred and eighty singleton pregnancy women from 20th to 38th gestational weeks in Second Xiangya Hospital of Central South University were enrolled. Two dimensional ultrasound was performed to record fetal growth parameters and renal longitudinal, transverse, anteroposterior diameters. Renal volume was calculated using ellipsoid volume equation: Volume =6/π×length×width×thickness. Using GA, BPD, AC, FL as independent variables and renal volume as dependent variables, the regression analyses of the mean and the standard deviation(SD) for each parameter were calculated separately. The Z-scores were calculated by the formula: Z-scores=(actual measurements of renal volume-predictive value of renal volume)/SD of predictive value.Results:Five hundred and forty-three cases of normal singleton fetuses were involved.The left and right renal volume were increased along with GA, BPD, AC, FL. Quadratic polynomial regression equations were each fitted to the models( r=0.775, 0.771, 0.811, 0.738, P<0.001; r=0.747, 0.735, 0.754, 0.745, P<0.001, respectively). The SD increased with the increases of independent variables and could be modeled with a simple linear regression( r=0.146, 0.225, 0.071, 0.155, P<0.001; r=0.091, 0.157, 0.091, 0.123, P<0.001, respectively). Z-scores were calculated and proved normally distributed after Shapiro-Wilk test( P>0.05). Conclusions:The normal Z-score reference range of fetal renal volume is established to help assess the normal renal growth and identify fetal renal abnormalities.

Objective To summarize the clinical characteristics of hepatic lymphoepithelioma-like carcinoma,and to explore the diagnosis and treatment strategies of hepatic lymphoepithelioma-like carcinoma.Methods A retrospectively analysis on 13 patients with liver lymphoepithelioma-like carcinoma in Union Hospital,Tongji Medical College,Huazhong University of Science and Technology,between March 2005 and May 2019 were carried out.Results 8 cases were male,5 were female,median age was 45years (27 to 68 y).There were 8 cases of intrahepatic cholangiocytic lymphoepithelioma-like carcinoma,4cases of hepatocytic lymphoepithelioma-like carcinoma,and 1 case of mixed hepatocytic and cholangiocytic lymphoepithelioma-like carcinoma.All patients received partial hepatectomy and postoperative comprehensive treatment.The patients were followed from 6 months to 7 years.Only one patient died,and the other patients were all in a tumor-free state.Conclusion Primary hepatic lymphoepithelioma-like carcinoma is a rare liver cancer.It is confirmed mainly by pathological examination and immunohistochemistry.With surgery as the main treatment,prognosis is usually fair.

PURPOSE: Details of patients hospitalized for asthma exacerbation in mainland China are lacking. To improve disease control and reduce economic burden, a large sample survey among this patient population is indispensable. This study aimed to investigate the clinical characteristics and outcomes of such patients.METHODS: A retrospective study was conducted on patients hospitalized for asthma exacerbation in 29 hospitals of 29 regions in mainland China during the period 2013 to 2014. Demographic features, pre-admission conditions, exacerbation details, and outcomes were summarized. Risk factors for exacerbation severity were analyzed.RESULTS: There were 3,240 asthmatic patients included in this study (57.7% females, 42.3% males). Only 28.0% used daily controller medications; 1,287 (39.7%) patients were not currently on inhaled corticosteroids. Acute upper airway infection was the most common trigger of exacerbation (42.3%). Patients with severe to life-threatening exacerbation tended to have a longer disease course, a smoking history, and had comorbidities such as hypertension, chronic obstructive pulmonary disease (COPD), and food allergy. The multivariate analysis showed that smoking history, comorbidities of hypertension, COPD, and food allergy were independent risk factors for more severe exacerbation. The number of patients hospitalized for asthma exacerbation varied with seasons, peaking in March and September. Eight patients died during the study period (mortality 0.25%).CONCLUSIONS: Despite enhanced education on asthma self-management in China during recent years, few patients were using daily controller medications before the onset of their exacerbation, indicating that more educational efforts and considerations are needed. The findings of this study may improve our understanding of hospital admission for asthma exacerbation in mainland China and provide evidence for decision-making.
Adrenal Cortex Hormones ; Asthma ; China ; Comorbidity ; Disease Progression ; Education ; Female ; Food Hypersensitivity ; Hospitalization ; Humans ; Hypertension ; Inpatients ; Medication Adherence ; Mortality ; Multivariate Analysis ; Pulmonary Disease, Chronic Obstructive ; Retrospective Studies ; Risk Factors ; Seasons ; Self Care ; Smoke ; Smoking

Objective: To explore the genetic basis for a case of recurrent fetal congenital hydrocephalus. Methods: Next-generation sequencing was carried out for the fetus, the gravida and two of her sisters. Results: The fetus was found to harbor a c. 1765T>C (p.Tyr589His) mutation in exon 14 of the L1CAM gene, which was derived from the gravida. Conclusion Male fetuses with recurrent hydrocephalus should be subjected to testing of the L1CAM gene to facilitate genetic counseling and prenatal diagnosis.