Objective:To analyze the prenatal clinical characteristics and genetic etiology of Wolf-Hirschhorn syndrome manifested by severe fetal growth restriction (FGR).Methods:Clinical data of three pregnant women admitted to Changsha Hospital for Maternal and Child Health Care from 2018 to 2020 due to severe FGR with or without other malformations diagnosed by prenatal ultrasound were collected. Amniotic fluid samples obtained by ultrasound-guided amniocentesis were analyzed by conventional G-banding staining technique and single nucleotide polymorphism array (SNP array). Parental peripheral blood cells were collected for SNP array to verify the source of variation.Results:(1) The karyotypes of both case 1 and 2 were normal, while case 3 had an abnormal karyotype of 46,XN,der(4)(9pter→9p23::4p15.31→4qter). (2) SNP array indicated a 7.8 Mb microdeletion in 4p16.3p16.1 cytoband in case 1 and a 5.5 Mb microdeletion in 4p16.3p16.2 cytoband in case 2, which were both de novo copy number variations. Case 3 harbored a 19.88 Mb deletion in 4p16.3p15.31 and a 10.89 Mb duplication in 9p24.3p23. (3) All three fetuses were diagnosed as Wolf-Hirschhorn syndrome, and their parents chose to terminate the pregnancies after genetic counseling. Conclusions:Considering the possibility of genetic disease, invasive prenatal diagnosis is suggested when prenatal ultrasonography showed severe FGR, regardless of other malformations, to clarify the cause and guide genetic counseling.

Objective To discuss the relationships between qi-arrival and mind-control, qi-arrival and qi-regulation, and to define qi-arrival by tracing the relevant records in Nei Jing (Classic of Internal Medicine) and Nan Jing (Classic of Difficult Issues). Method Thirty-seven relevant ancient books of the two classics were reviewed and the notes by WANG Bing, MA Shi, and YANG Shang-shan were referred. Result Mind-control requires the spirits of the practitioner, patient and environment, as well as observing and waiting for the arrival of qi. Regarding qi-regulation, theories involve that qi-arrival achieves same reinforcing and reducing effect as qi-regulation, qi-regulation is elucidated from the correct location of acupoint, proper needling depth and direction, and to regulate qi by observing the arrival of qi. Besides, the changes of internal and external environments also influence qi-arrival via qi-regulation and mind-control. Conclusion Qi-arrival is closely related to mind-control and qi-regulation in obtaining, differentiation, and adjustment. Mind-control and qi-regulation assist each other through the whole acupuncture process, which is the core of qi-arrival.

Acupuncture-moxibustion theory believes that needling sensation is a crucial factor in influencing acupuncture efficacy. Judgment of occurrence of needling qi (qualitative measurement) and the intensity of needling qi (quantitative measurement) is the key section in studying the relationship between needling qi and efficacy. According to the relevant literatures, the judgment of the occurrence of needling qi mostly depended on the needling sensations, while a small amount of researches mentioned self-determined threshold or range of needling qi; the quantity of needling qi was measured by factor analysis, Massachusetts General Hospital Acupuncture Sensation Scale (MASS) based on exponential smoothing method, weighted average, addition of needling sensation score, etc. This article holds that the needling qi should be divided into two parts: overall needling qi and needling sensation components, the former referring to the occurrence and intensity of needling qi, and the latter for judging the different sensations and intensity. Currently, the studies on needling qi and efficacy should begin with single treatment at single point and multiple treatments at multiple points, to generally estimate the quality and quantity of needling qi, for seeking a qualitative and quantitative measurement in accordance with both acupuncture-moxibustion theory and clinical practice.

From the time of Neijing (Internal Classic) and Nanjing (Classic of Medical Problems) till the end of Qing dynasty, the medical scholars of each dynasty had taken the recognition of deqi as the subject in the stud- ies. Through the historical analysis, the content of regulating deqi was further understood in relevant ancient liter- ature. By checking the ancient works of acupuncture in each dynasty till the end of Qing dynasty, in reference to the evidences in over 10 works, such as Zhenjiu Dacheng (Great Compendium of Acupuncture and Moxibustion) , Zhenjing Zhinan (Instruction of Acupuncture Canon), Zhenjiu Daquan, and in association with the academic views of acupuncture masters in modern time, it was discovered that the medical scholars after the time of Neijing and Nanjing had enriched the understandings of deqi, such as the connection of cold and heat reaction, radiation to the affected site, reinforcing and reducing purpose in qi regulation. The methods of deqi regulations had, been explored till the end of Qing dynasty since the time of Neijing and Nanjing and the understandings of it were vari- ous among scholars.
Acupuncture Therapy ; history ; methods ; Books ; history ; China ; History, Ancient ; Humans ; Medicine in Literature ; Qi ; history ; Sensation

ObjectiveTo explore the relation between the uterine position and acupoint effect by analyzing the data of a clinical trial of electroacupuncture in treating primary dysmenorrhea.MethodThe uterine position was detected by ultrasonic examination;Visual Analogue Scale (VAS) was used to evaluate the pain degree before and after intervention; Retrospective Symptom Scale (RSS) was adopted to determine the improvement of symptoms.ResultThere were no significant differences in comparing the VAS score, real-time effect and post-treatment effect, and effective rate among different uterine positions (P>0.05). Electroacupuncture at Sanyinjiao (SP 6) can produce a real-time effect in releasing abdominal pain and relevant symptoms of dysmenorrhea in patients with anteversion of uterus, a less significant effect was shown in patients with retroposition of uterus, while no effect was shown in patients with uterus at middle position.ConclusionElectroacupuncture at Sanyinjiao possibly has a specific effect in releasing abdominal pain and relevant symptoms of dysmenorrhea at anteversion of uterus, and the uterine position may be related to the corresponding meridians and Zang-fu organs. The current statistical result indicates that there is no relation between the uterine position and the effect of Sanyinjiao, but this conclusion still needs proving by prospective randomized controlled clinicaltrials.

OBJECTIVE To generate hemophilia A (HA) patient-specific inducible pluripotent stem cells (iPSCs) and induce endothelial differentiation. METHODS Tubular epithelial cells were isolated and cultured from the urine of HA patients. The iPSCs were generated by forced expression of Yamanaka factors (Oct4, Sox2, c-Myc and Klf4) using retroviruses and characterized by cell morphology, pluripotent marker staining and in vivo differentiation through teratoma formation. Induced endothelial differentiation of the iPSCs was achieved with the OP9 cell co-culture method. RESULTS Patient-specific iPSCs were generated from urine cells of the HA patients, which could be identified by cell morphology, pluripotent stem cell surface marker staining and in vivo differentiation of three germ layers. The teratoma experiment has confirmed that such cells could differentiate into endothelial cells expressing the endothelial-specific markers CD144, CD31 and vWF. CONCLUSION HA patient-specific iPSCs could be generated from urine cells and can differentiate into endothelial cells. This has provided a new HA disease modeling approach and may serve as an applicable autologous cell source for gene correction and cell therapy studies for HA.
Cell Differentiation ; Hemophilia A ; pathology ; therapy ; urine ; Humans ; Induced Pluripotent Stem Cells ; cytology ; transplantation ; Urine ; cytology

Objective To evaluate the long-term safety of sentinel lymph node biopsy mapped by combination of indocyanine green and methylene blue in breast cancer patients.Methods 198 breast cancer patients with clinical negative axillary lymph node received sentinel lymph node biopsy mapped by combination of indocyanine green and methylene blue.Patients were followed up and regional lymph node recurrence,disease free survival(DFS) and overall survival(OS) were analyzed.Results After a median follow-up of 70 months,2 patients had ipsilateral lymph node recurrence with a regional lymph node recurrence rate of 1％ (2/198).14 patient had recurrence or metastasis and 6 patients died of distant metastasis.The estimated 6 years DFS was 94.4％ and OS was 96.5％.The incidence of arm lymphoedema within patients who received axillary lymph node dissection was 4.5％ and it was 2.5％ in patients who received sentinel lymph node biopsy.Conclusions The sentinel lymph node biopsy mapped by combination of indocyanine green and methylene blue was safe and reliable method for further staging axillary lymph node stastus.

OBJECTIVES: Primary carnitine deficiency (PCD) is a rare fatty acid metabolism disorder that can cause neonatal death. This study aims to analyze carnitine levels and detect SLC22A5 gene in newborns with carnitine deficiency, to provide a basis for early diagnosis of PCD, and to explore the relationship between carnitine in blood and SLC22A5 genotype. METHODS: A total of 40 neonates with low free carnitine (C0<10 μmol/L) in blood were the subjects of the study. SLC22A5 gene was detected by Sanger sequencing to analyze the value of carnitine, the results of gene test and their relationship. RESULTS: A total of 15 variants of SLC22A5 gene were detected, including 11 pathogenic or likely pathogenic variants and 4 variants of uncertain significance. There were 5 new mutations: c.288delG (p.G96fsX33), c.744_745insTCG (p.M258_L259insS), c.752A>G (p.Y251C), c.495 C>A (p.R165E), and c.1298T>C (p.M433T). We found 14 PCD patients including 2 homozygous mutations and 12 heterozygous mutations, 14 with 1 mutation, and 12 with no mutation among 40 children. The C0 concentration of children with SLC22A5 gene homozygous or complex heterozygous mutations was (4.95±1.62) μmol/L in the initial screening, and (3.90±1.33) μmol/L in the second screening. The C0 concentration of children with no mutation was (7.04±2.05) μmol/L in the initial screening, and (8.02±2.87) μmol/L in the second screening. There were significant differences between children with homozygous or compound heterozygous mutations and with no mutation in C0 concentration of the initial and the second screening (both CONCLUSIONS There are 5 new mutations which enriched the mutation spectrum of SLC22A5 gene. C0<5 μmol/L is highly correlated with SLC22A5 gene homozygous or compound heterozygous mutations. Children with truncated mutation may have lower C0 concentration than that with untruncated mutation in the initial screening.
Cardiomyopathies ; Carnitine/deficiency* ; Child ; Humans ; Hyperammonemia/genetics* ; Infant, Newborn ; Muscular Diseases/genetics* ; Mutation ; Solute Carrier Family 22 Member 5/genetics*