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Objective:To explore the clinical features and pathogenic causes of a Chinese Han family with Wagner syndrome, and to analyze the relationship between VCAN gene mutation and patient phenotype. Methods:The method of family pedigree investigation was adopted.A Chinese Han family with Wagner syndrome in 3 generations including 13 family members was collected in Xiamen Eye Center of Xiamen University in January 2020, and 5 patients from 3 generations were diagnosed.All members underwent a comprehensive medical history collection and routine ophthalmological examinations, including visual acuity, intraocular pressure, slit lamp microscopy, and ophthalmoscopy to analyze the condition of anterior segment and fundus.Anterior segment photography, fundus photography, optical coherence tomography and ultrasound biological microscopy were carried out in the proband and some patients to analyze the condition of anterior segment, fundus and anterior chamber angle.The peripheral venous blood of all family members was collected for genomic DNA extraction, and pathogenic gene variation analysis for verification was through high-throughput target region capture sequencing and Sanger sequencing.Variants were scored using the American College of Medical Genetics and Genomics (ACMG) guidelines, and the structure and function of variants were predicted through PredictProtein.This study adhered to the Declaration of Helsinki.The study protocol was approved by the Ethics Committee of Xiamen Eye Center of Xiamen University (No.MR-35-22-002800).Written informed consent was obtained from each subject.Results:The Chinese pedigree with Wagner syndrome was in accordance with autosomal dominant inheritance pattern, and all patients had no history of systemic disease or other abnormal manifestations.The common ophthalmic features of the patients were abnormal suspensory ligament, premature cataract, vitreous cavity, vitreous condensation, veil-like proliferative membrane in the vitreous cavity, retinal choroid atrophy and thinning, tractional retinal detachment, and retinal pigmentation.The proband had binocular cataract surgery, and binocular intraocular lens dislocation occurred after the operation.Genetic analysis revealed that a heterozygous splice site variation c.9265+ 1G>A in the VCAN gene in this family was co-segregated with the disease phenotype and graded as a likely pathogenic variant by the ACMG guidelines.This variant base pair substitution could cause the formation of a protein product with 1 754 amino acids shorter, resulting in insufficient haploid dosage and severe reduction of glycosaminoglycan attachment sites, making the versican protein dysfunctional. Conclusions:It is the first time to report a Chinese family with Wagner syndrome in China, and it is confirmed that the family has a heterozygous variation in the VCAN gene c.9265+ 1G>A by molecular genetic analysis.
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The bamboo slips of medicine, from No. 361 to No. 628, unearthed in Laoguanshan are of the same specification, which shall be the same one as(《》) of theDynasty from Zhangjiashan in terms of the basic constitution and style. Hence, the medical slips, from No. 361 to No. 628, unearthed in Laoguanshan shall be titled asof Laoguanshan version, in which, the text on the "twelve meridians" is the combination and adaption from Y(《》) and(《》) in the slips ofof theDynasty from Zhangjiashan. The two chapters on "derived meridians" have compiled the names, running courses and differentiated disorders of the 12 meridians in the different eras at the early stage, and in the 9 of these 12 meridians, the prescriptions for moxibustion therapy have been attached for the treatment of the differentiated disorders, which reflexes the characteristics of(meridian) at different evolution stages before the formation of the concept of meridian. Regarding the descriptions on "pulse diagnostic method", two different methods are included, one is relevant with the decision of survival span, and another is with the localization of disorders.
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For the construction factors of acupuncture-moxibustion theory of, a doctor inDynasty, we studied his life, acupuncture-moxibustion theory and culture background in the History of Medicine and Philosophy of Science & Technology. It was found that the major source of' s Confucianism was the-Neo-Confucianism. The data show that Neo-Confucianism played an important role in the enrichment of his human nature, spirit, moral cultivation and political talent, making him a scholar in the-dynasty, also shaping his medical ethics, medical skill and acupuncture-moxibustion theory. The inheritance, development and application of-Neo-Confucianism provided the most fundamental thinking, research methods and patterns forto interpret the acupuncture classics, summarize his teachers' experience and develop his theoretical system.' s acupuncture-moxibustion practice and theory reached a new level, because he took acupuncture-moxibustion as one of the knowledge investigation and attainment of-Neo-Confucianism.
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The integral meridian theory is composed of five parts, including meridian course, syndrome, diagnostic method, treating principle and treatment, and the core of it is meridian syndrome. It has been proved by multiple evidences that the meridian syndrome induced by the pathological change in meridian and the death syndrome of pulse penetrating or attaching to the syndrome are all originated from Bianque' s facial color and pulse diagnosis. And regarding the pulse syndrome,there are many different interpretations based on the theory of yin-yang in four seasons before the Han Dynasty. The emerging of Biaoben diagnostic method in Bianque's pulse method and its extensive clinical application promote a new theoretic interpretation the connection of meridians interpreting pulse syndrome directly. Besides, along with the new development of blood-pulse theory of Bianque's medicine, the revolution on meridian theory is aroused as well its theoretical paradigm turning from "tree" type to "ring" type. In other words, Bianque's medicine not only gives birth to meridian theory, but also decides its final development.
Subject(s)
Humans , Acupuncture Therapy , History , China , Diagnostic Techniques and Procedures , History , Heart Rate , History, Ancient , Medicine in Literature , MeridiansABSTRACT
The characteristics and academic thoughts of Chinese Acup-Mox Medicine written by YAO Tianmin during the Republic of China was studied and analyzed in this paper. The academic thoughts of this book were confluence of Chinese and western knowledge, respecting for classics culture but not stubborn, using western science and medicine without worshiping it. The main characteristics were the scientific meridian-acupoint theory, extensive acupoint selection, "qie" method of acupuncture, high recommendation on medicated thread and ironing moxibustion, reinforcing and reducing based on the meridian direction in infantile massage, using acupuncture and cream formula for surgical treatment, and creating his own acupuncture codes.