Objective:To investigate the clinical effects of a single lateral-rectus approach (LRA) in the Ti-Robot-assisted treatment of acetabular fractures involving the posterior column.Methods:A retrospective study was conducted to analyze the clinical data of 16 patients with acetabular fracture who had been admitted to Department of Trauma Orthopedics, Taihe Hospital from August 2021 to March 2023. There were 13 males and 3 females with a mean age of 51.5 (35.8, 56.8) years. By the Judet-Letournel classification, there were 4 anterior and posterior semi-transverse fractures, 2 T-shaped fractures, and 10 double-column fractures. The time from injury to operation was 6.0 (5.3, 7.8) d. All their acetabular fractures involving the posterior column were treated by a single LRA with the assistance of a Ti-Robot. Operation time, blood loss, complications, quality of fracture reduction, modified Merle d'Aubigné & Postel scores and acetabular recovery at the last follow-up were recorded.Results:In this cohort, the operation time was (4.1±0.6) h and the blood loss 400 (300, 575) mL. By the Matta evaluation, the fracture reduction was excellent in 10 cases, good in 5 cases, and poor in 1 case. The follow-up time was (11.3±3.9) months. Bone union was achieved in all fractures after 3.0 (2.3, 4.0) months. By the modified Merle d'Aubigné & Postel scores at the last follow-up, 9 cases were excellent, 6 cases were good and 1 case was fair. Injury to the lateral femoral cutaneous nerve occurred in 1 patient, and deep venous thrombosis in 6 patients. Follow-ups revealed no iatrogenic vascular injury, loosening or rupture of internal fixation, or incision infection.Conclusion:A single LRA approach can be used in the minimally invasive treatment assisted by a Ti-Robot for acetabular fractures involving the posterior column, demonstrating advantages of minimal invasion, high reduction quality and good functional recovery of the hip joint.

With the extensive application of highly sensitive genetic techniques in the field of prenatal diagnosis, prenatal chromosomal mosaicisms including true fetal mosaicisms and confined placental mosaicisms are frequently identified in clinical settings, and the diagnostic criteria and principle of genetic counseling and clinical management for such cases may vary significantly among healthcare centers across the country. This not only has brought challenges to laboratory technician, genetic counselor and fetal medicine doctor, but can also cause confusion and anxiety of the pregnant woman and their family members. In this regard, we have formulated a consensus over the prenatal diagnosis and genetic counseling for chromosomal mosaicisms with the aim to promote more accurate and rational evaluation for fetal chromosomal mosaicisms in prenatal clinics.
Consensus ; Female ; Genetic Counseling ; Humans ; Mosaicism ; Placenta ; Pregnancy ; Prenatal Diagnosis/methods*

Objective:To analyze the indications for prenatal diagnosis and summarize the pregnancy outcomes and its influencing factors of pregnant women with fetal sex chromosome aneuploidy (SCA).Methods:This study retrospectively enrolled 1 372 fetuses prenatally diagnosed with SCA in Medical Genetics Center of Guangdong Women and Children Hospital from January 2013 to December 2021. The relationship between prenatal diagnosis indications and SCA as well as between ultrasound abnormalities, pregnancy outcomes and SCA types were analyzed by Chi-square test and trend Chi-square test. Results:The most common prenatal diagnosis indication was abnormal non-invasive prenatal testing (NIPT) (61.6%, 845/1 372). The most common SCA type was 47,XXY in cases with indications of abnormal NIPT and advanced maternal age, mosaic in cases with high or borderline risk of Down syndrome, and 45,X in cases with increased nuchal translucency or cystic hygroma. Of 1 372 pregnant women with fetal SCA, 17 were lost to follow-up, seven had intrauterine fetal death, and 1 348 (98.3%) were followed up for pregnancy outcomes including 36.3% (489/1 348) continued pregnancies and 63.7% (859/1 348) terminations. Pregnancy termination rates decreased sequentially in pregnant women carrying fetuses with 45,X, 47,XXY, mosaic, 47,XXX and 47,XYY [99.2% (247/249), 74.5% (307/412), 67.8% (156/230), 36.6% (86/235) and 28.4% (63/222), χ2trend=352.76, P<0.001]. There was no significant difference in pregnancy termination rates among the cases with different mosaic mutations (all P>0.05). The pregnancy termination rate was higher in fetuses with SCA complicated by ultrasound structural abnormalities than in those without ultrasound abnormalities and those with ultrasound soft markers [91.5% (182/199) vs 57.1% (535/937) and 67.0% (142/212), χ2 were 83.68 and 36.85, both P<0.001]. Moreover, the pregnancy termination rate in fetuses with SCA complicated by ultrasound soft markers was higher than those without ultrasound abnormalities ( χ2=7.13, P<0.05). Conclusions:NIPT abnormality is the most common indication for prenatal diagnosis of SCA. The types of SCA and ultrasound findings are important factors determining whether the pregnancy would be continued or not.

Genomic disorders caused by pathogenic copy number variation (pCNV) have proven to underlie a significant proportion of birth defects. With technological advance, improvement of bioinformatics analysis procedure, and accumulation of clinical data, non-invasive prenatal screening of pCNV (NIPS-pCNV) by high-throughput sequencing of maternal plasma cell-free DNA has been put to use in clinical settings. Specialized standards for clinical application of NIPS-pCNV are required. Based on the discussion, 10 pCNV-associated diseases with well-defined conditions and 5 common chromosomal aneuploidy syndromes are recommended as the target of screening in this consensus. Meanwhile, a standardized procedure for NIPS-pCNV is also provided, which may facilitate propagation of this technique in clinical settings.
Aneuploidy ; Cell-Free Nucleic Acids/genetics* ; Consensus ; DNA Copy Number Variations ; Female ; High-Throughput Nucleotide Sequencing ; Humans ; Pregnancy ; Prenatal Diagnosis

Objective:To summarize the clinical characteristics of patients with coronavirus disease 2019 (COVID-19) infected with Delta variant, so as to provide further references for clinical diagnosis and treatment.Methods:A real-world study was conducted to analyze the characteristics of 166 COVID-19 patients infected with Delta variant at Guangzhou Eighth People’s Hospital, Guangzhou Medical University.Results:The study enrolled 5 asymptomatic cases, 123 non-severe cases (mild and moderate type), and 38 severe cases (severe and critical type). Among these patients, 69 (41.6%) were male and 97 (58.4%) were female, with a mean age of 47.0±23.5 years. Thirty-nine cases (23.5%) had received 1 or 2 doses of inactivated vaccine. The incidence of severe COVID-19 cases was 7.7% in 2-doses vaccinated patients, which was lower than that of 11.5% in 1-dose and 26.8% in unvaccinated patients. The proportion of severe cases in 2 dose-vaccinated patients was 7.7%, which was lower than that of 11.5% in 1-dose vaccinated patients and 26.8% in unvaccinated patients, but the difference was not significant ( P>0.05). The most common clinical symptom was fever (134 cases, 83.2%), and 39.1% of cases presented with high-grade fever (≥39 °C); other symptoms were cough, sputum, fatigue, and xerostomia. The proportion of fever in severe cases was significantly higher than that of non-severe cases (97.4% vs. 76.4%, P<0.01). Similarly, the proportion of severe cases with high peak temperature (≥39 ℃) () was also higher than that of non-severe cases (65.8% vs. 30.9%, P<0.01). The median minimal Cycle threshold (Ct) values of viral nucleic acid N gene and ORFlab gene were 20.3 and 21.5, respectively, and the minimum Ct values were 11.9 and 13.5, respectively. Within 48 h of admission, 9.0% of cases presented with decreased white blood cell counts, and 52.4% with decreased lymphocyte counts. The proportions of increased C-reactive protein, serum amyloid A, interleukin 6, and interleukin 10 were 32.5%, 57.4%, 65.3%, and 35.7%, respectively. The proportions of elevated C-reactive protein, serum amyloid A and interleukin-6 in severe cases were significantly higher than those in non-severe cases ( P<0.01). Logistic regression analysis showed that older age and higher peak temperature were associated with a higher likelihood of severe cases ( OR>3, 95% CI: 2-7, P<0.01). In terms of treatment, traditional Chinese medicine (TCM) was used in 97.6% of non-severe cases and 100% in severe cases. Other treatments included respiratory and nutritional support, immunotherapy (such as neutralizing antibodies and plasma of recovered patients). The median times from admission to progression to severe cases, of fever clearance, and of nucleic acid conversion were 5 days, 6 days and 19 days, respectively. No deaths were reported within 28 days. Conclusions:The symptoms of Delta variant infection in Guangzhou are characterized by a high proportion of fever, high peak temperature, long duration of fever, high viral load, a long time to nucleic acid conversion, and a high incidence of severe cases. The severe cases exhibit a higher percentage of elderly patients, a longer duration of fever and have a higher fever rate and a higher hyperthermia rate than non-severe cases. Age and hyperthermia are independent risk factors for progression to severe disease. The combination of TCM and Western medicine can control the progression of the disease effectively.

Ocular opsoclonus is a rare disorder of the saccadic system, in which fixation is continuously interrupted by involuntary, chaotic, rapid and multi-directional saccadic eye movements, interrupting the gaze-holding function, leading to“dancing eyes”. Ocular opsoclonus has rarely been reported in China. A case of ocular opsoclonus associated with anti-N-methyl-D-aspartate receptor encephalitis is reported to improve awareness about the ocular sign. The patient′s condition reached the peak at the 5th week. He developed ocular opsoclonus on the basis of nonconvulsive status epilepticus, accompanied by frequent involuntary movements of the mouth and limbs. The ocular opsoclonus gradually relieved on the 7th week with the active treatment.

Chromosomal microdeletions and microduplications have been proven to be a significant proportion of genetic factors underlying birth defects. Chromosomal microarray analysis (CMA) and next generation sequencing-based copy number variation (CNV-seq) assay have been recommended as first-tier tests for prenatal evaluation of disease-causing CNV across the genome. With the broad application of such technologies in prenatal genetic diagnosis, there is a needed to enhance the consistency in interpretation and reporting of CNV results in clinical laboratories across China. In addition, a standard guideline for prenatal analysis and reporting of regions of homozygosity (ROH) is also required. To assist the classification, interpretation and reporting of CNV/ROH, the following recommendations have been developed, which may enhance a standard application of CMA/CNV-seq techniques in prenatal genetic diagnosis.

Objective To assess the value of non-invasive prenatal screening (NIPS) for the detection of fetal chromosome 16 aneuploidy through multi-method verification and follow-up of pregnancy outcomes.Methods From January 2016 to December 2017,7972 pregnant women with singleton pregnancies accepted the NIPS test after 10th gestational week with informed consent.Those with fetal chromosome 16 abnormality suggestive by the NIPS test were subjectedto prenatal diagnosis including chromosomal karyotyping and chromosomal microarray analysis (CMA).Results Of the 7972 pregnant women tested by NIPS,16 (0.2％) were predicted to have fetal chromosome 16 abnormality.The average age of the 16 pregnant women was 33.5 + 5.24,and the average gestational week was 19.88 ± 2.47.Chromosomal karyotyping verified that 3 fetuses had mosaicisms and 1 carried pericentric inversion of chromosome 9,which yielded a positive predictive value (PPV) of 18.8％.CMA has detected 7 fetuses with genomic abnormalities,which yielded a PPV of 43.8％.Eleven of the 16 women (68.8％) have given birth to healthy babies.Conclusion For pregnant women with a high risk of chromosome 16 aneuploidy suggested by NIPS,the prognosis of fetus should be evaluated by multiple methods.Compared with conventional karyotyping analysis,molecular methods such as CMA are far superior.

Objective: To compare the dosimetric differences among Target-Segmented Plan (TSP), Non-TSP, and conventional static 8-field intensity modulated radiation therapy (8F-IMRT) plan for post-mastectomy irradiation of left-sided breast cancer patients. Methods: This study enrolled thirty consecutive breast cancer patients who underwent radical mastectomy and treated with post-op radiation in Department of Radiation Oncology, Renmin Hospital of Wuhan University from June 2017 to November 2018.The clinical target volume (CTV) included the ipsilateral chest wall, supra/infra-clavicular, high-risk partial axillary in high risk, and internal mammary nodes (IMN). The organs at risk (OARs) near the targets, including ipsilateral lung, heart, contralateral breast, ipsilateral humeral head and spinal cord, were contoured as well. The maximum distance of PTV′s tangent to the outermost side of the affected lung was more than 2 cm. Depending on the maximum distance, the patients were classified into three groups: A(<3 cm), B(3~4 cm) and C(>4 cm), respectively. Three types of treatment plans (TSP, Non-TSP and 8F-IMRT) were created for each patient using the Eclipse treatment planning system with the same dose optimization objective . The dose-volume histograms were compared for the PTVs and OARs. Results: All plans achieved the intended dose criteria.The D_98% of TSP was lower than that of Non-TSP and 8F-IMRT (Z=-3.294, -3.266, P<0.05). However, the homogeneity index (HI) and conformal index (CI) of the three plans had no statistically significant difference among the three plans (P>0.05). Non-TSP required more Monitor Units (MUs)than the other two plans (Z=-3.04, -2.669, P<0.05). The D_mean of TSP was higher than that of 8F-IMRT (Z=-3.181, P<0.05). Compared with Non-TSP and 8F-IMRT plans, TSP significantly reduced V_{5 Gy}, V_{10 Gy}, V_{20 Gy} and D_meanof ipsilateral lung and heart in all patients (lung: V_{5 Gy}: Z=-3.408, -3.408; V_{10 Gy}: Z=-3.408, -3.408; V_{20 Gy}: Z=-3.408, -3.124; D_mean: Z=-3.408, -3.408, P<0.05; heart: V_{5 Gy}: Z=-3.408, -3.408; V_{10 Gy}: Z=-3.408, -3.408; V_{20 Gy}: Z=-2.499, -3.067; D_mean: Z=-3.408, -3.408, P<0.05). The D_mean of contralateral breast in Non-TSP was higher than that in TSP and 8F-IMRT (Z=-2.954, -2.215, P<0.05), and the D_maxhas no significant difference in (P>0.05). There was no significant difference in spinal cord D_max among the three plans, but the D_mean of humeral head in 8F-IMRT was higher than that in TSP and Non-TSP (Z=-3.01, -2.442, P<0.05). In the three groups, the mean amplitude of difference comparing Non-TSP and 8F-IMRT with TSP in ipsilateral lung(V_{5 Gy}, V_{10 Gy}, V_{20 Gy}) and heart(V_{5 Gy}, V_{10 Gy}, D_mean) satisfied the relation: D(N-T, A)<D(N-T, B) <D(N-T, C)和D(8F-T, A)<D(8F-T, B) <D(8F-T, C). Conclusions For post-mastectomy left-sided breast cancer patients, TSP is not only dosimetrically feasible as Non-TSP and 8F-IMRT treatment techniques, but also could effectively reduce the irradiation volume of the ipsilateral lung and heart in the low dose area with minimum adverse dosimetric impact on the treatment targets and other OARs.The advantage of TSP is more prominent with increasing curvature of the clinic target volume.

Objective To establish a quality control method for bomeol and artificial musk in Xinfufang-Zhenzhusan and Xinfufang-Zhenzhugao.Methods We used petroleum ether-toluene-ethyl acetate (9:3:2)as developer for TLC to identify isoborneol and borneol and petroleum ether-dichloromethane (2:3) as developer for TLC to identificate musk ketone.Agilent 7890 B gas chromatograph,FDI detector;Column:Thermo-TG-WaxMS GC (0.25 mm × 30 m,0.25 mm) was employed;the carrier gas was high purity nitrogen and flow rate for 1 mg/ml,the injection port temperature is 200 C and detector temperature is 250 ℃;the split ratio is 10:1 and injection volume was 1 μl,using temperature programmed.Results The isoborneol,borneol and musk ketone in the range of 0.001-10 mg/ml showed good linearity.The recovery of the method is in the range of 95 ％ to 105 ％.The TLC for isobomeol,bomeol,musk ketone can be identified easily.Conclusions The method was simple and reasonable,which can be used for the quality control of borneol and artificial musk in the Xinfufang-Zhenzhusan and Xinfufang-Zhenzhugao.