Résumé
Fundamento: La detección prenatal de hemoglobinopatías en Cuba se realiza a todas las gestantes en la atención Primaria de Salud, a través de la electroforesis de hemoglobina para identificar parejas de alto riesgo. El programa brinda asesoramiento genético, diagnóstico prenatal molecular e interrupciones selectivas de fetos afectados, a solicitud de las parejas. Objetivo: Determinar el tipo y frecuencia de hemoglobinopatías en gestantes cubanas. Método: Se realizó un estudio descriptivo, retrospectivo y de corte transversal para determinar el tipo de hemoglobinopatías en 1 342 917 gestantes captadas en un periodo de diez años. El método de pesquisa fue la electroforesis de hemoglobina en geles de agarosa a pH alcalino. La confirmación por electroforesis de hemoglobina en gel de agarosa a pH ácido, ambos métodos mediante el equipo Hydrasys 2. Resultados: La frecuencia global de gestantes con hemoglobinopatías fue de 3,5 %. Se detectó hemoglobinopatías en 47 465 mujeres; 38 698 con variante S heterocigoto, 8 706 variantes de hemoglobina C y 158 de otras variantes. Se detectaron 44 283 esposos con hemoglobinopatías, 3 099 parejas de alto riesgo y se realizaron 2 689 diagnósticos prenatales moleculares. Se confirmaron 522 fetos afectados y 382 parejas solicitaron la interrupción del embarazo. El programa alcanzó 99,24 % de cobertura en el país. Conclusiones: La detección de las hemoglobinopatías en gestantes residentes en Cuba, permitió conocer el tipo de hemoglobinopatía y la frecuencia de hemoglobinas anormales y nuevas variantes, de ahí el interés de continuar el programa de pesquisa para prevenir la aparición de formas graves de la enfermedad.
Foundation: Prenatal detection of hemoglobinopathies in Cuba is performed on all pregnant women in Primary Health Care, through hemoglobin electrophoresis to identify high-risk couples. The program provides genetic counseling, molecular prenatal diagnosis and selective interruptions of affected fetuses, at the request of couples. Objective: Determine the type and frequency of hemoglobinopathies in Cuban pregnant women. Method: A descriptive, retrospective and cross-sectional study was carried out to determine the type of hemoglobinopathies in 1,342,917 pregnant women recruited over a period of ten years. The research method was hemoglobin electrophoresis in agarose gels at alkaline pH. Confirmation by electrophoresis of hemoglobin in agarose gel at acidic pH, both methods using the Hydrasys 2 equipment. Results: The overall frequency of pregnant women with hemoglobinopathies was 3.5%. Hemoglobinopathies were detected in 47,465 women; 38,698 with heterozygous S variant, 8,706 hemoglobin C variants and 158 other variants. 44,283 husbands with hemoglobinopathies were detected, 3,099 high-risk couples were detected, and 2,689 molecular prenatal diagnoses were performed. 522 affected fetuses were confirmed and 382 couples requested termination of pregnancy. The program reached 99.24% coverage in the country. Conclusions: The detection of hemoglobinopathies in pregnant women residing in Cuba allowed us to know the type of hemoglobinopathy and the frequency of abnormal hemoglobins and new variants, hence the interest in continuing the research program to prevent the appearance of severe forms of the disease.
Résumé
In the context of the current era when different civilizations are learning from each other， traditional Chinese medicine （TCM） needs to continuously draw the essence from modern scientific and technological civilization for creative inheritance and innovative development. It is essential to master the classic texts of TCM to solidify its theoretical foundation， while also read extensively to broaden the academic horizons. TCM's inheritance and innovation should be integrated with the current era's context and social reality， and delve into the essence of TCM's academic experience and clinical practice. Emphasis should be placed on the inheritance of original TCM thinking， and return to the original image creation and transformation. Using image thinking as the main approach， and combined it with modern complex systems science and front-edge methodologies， we could elaborate the TCM theories such as correspondence between nature and human， five circuits and six qi， constitution and endowment， and harmony of body and spirit. The training of academic talents must be at the forefront， closely follow the new trends of the development of contemporary scientific and technological civilization， identify the “pain points” of discipline development， focus on the key areas for improvement， and seek the highlights of academic research. There should be a courage to question and propose new insights， construct new concepts， establish new theories， transform the weakness in original theoretical innovation， and enrich the evolving connotation of TCM.
Résumé
This article aims to explore the significant influence of the Communist Party of China(CPC)on traditional Chinese medicine(TCM).The article reviews the historical development of TCM in modern times and the impact of the CPC,combined with the achievements of the TCM department of comprehensive hospitals,to explore the approach of building pioneer branches with distinctive TCM national cultural characteristics,and to consider how to inherit and innovate the development of TCM cultural essence.The article emphasizes the significant contribution of the CPC to the modernization of TCM and the cause of human health.Through this research,it will contribute to a better understanding of the important role of the CPC in the protec-tion and inheritance of TCM culture and explore cultivation programs for party branches with TCM characteristics to better inherit,innovate and develop traditional Chinese medicine.
Résumé
Objective To investigate the effect of Fuzhengquxie prescription on the proliferation,apoptosis,invasion,and migration of ovarian cancer cells and its associated mechanism.Methods After Fuzhengquxie prescription was applied to human ovarian cancer SKOV3 cells,the effects on cell proliferation,apoptosis,invasion,and migration were detected by 3-(4,5-dimethylthiazol-2-yl)-2,5 diphenyl tetrazolium bromide,cell cloning,cell scratch,and Transwell assay experiments.Quantitative reverse transcription-polymerase chain reaction(qRT-PCR)and Western blotting were used to determine the expression levels of the negative epigenetic regulatory protein,EZH2;its related protein,E-cadherin;and the apoptosis-related proteins,Bax and Bcl-2.Results Fuzhengquxie prescription inhibited the growth rate of SKOV3 cells in a concentration-and time-dependent manner,and significantly inhibited the proliferation,invasion,and migration of SKOV3 cells.Western blotting and qRT-PCR results showed that Fuzhengquxie prescription combined with GSK126 inhibited the transcription of EZH2and Bcl-2,promoted the transcription of Baxand E-cadherin,down-regulated the expression of EZH2 and Bcl-2 proteins,and promoted the expression of Bax and E-cadherin proteins.Conclusion Fuzhengquxie prescription inhibited the proliferation,invasion,and migration of SKOV3 cells and induced their apoptosis.It may be involved in regulating the E-cadherin-mediated proliferation,invasion,and migration of ovarian cancer cells by inhibiting the epigenetic regulatory protein EZH2,and regulating the apop-tosis of ovarian cancer cells mediated by Bcl-2 and Bax.
Résumé
Microsurgery is not only a technology, but also a science. Microsurgery was enlisted as a tier-three discipline in the Classification of National Clinical Medicine Disciplines (Discipline code 320.2715) in 1992. In the new era, the discipline development of microsurgery should be inherited, innovated, realistic and pragmatic, and it also relies on the other surgical specialties to expand the applications of microsurgery. Microsurgery technology should firmly adhere to its core competitiveness and hold high the banner of microsurgical characteristics by offering the best possible serves to all the clinical surgical disciplines; Pay equal attention to medicine, teaching and scientific researches; Unite, collaborate and strengthen academic exchanges at home and abroad; Focus on talent training (i.e. exports of great country, leading figures, etc.) and support the development of private hospitals specialised in microsurgery. The supportive roles of the Chinese Journal of Microsurgery shall be further enforced to facilitate the discipline development of microsurgery and promoting high-quality development of microsurgery.
Résumé
Great progress has been achieved in the aspects of national laboratory testing technology and equipments, quality management abilities, personnel training, and academic level et al, which basically realized the automation of clinical testing, the standardization of department management and academic development of talent cultivation. In the new era of big data, digitalization, and intelligent testing in the future, important topics for laboratory medicine staffs to face are how to integrate high and new technology and frontier concepts to inherit and innovate, to open up and cooperate for the purpose of empowerment the construction of laboratory medicine disciplines.
Résumé
[Objective]To explore the inheritance status and academic characteristics of SHI's acupuncture and moxibustion school in northern Zhejiang,and to further enrich the connotation of Xiushui medical school.[Methods]Using the method of reviewing and researching the traditional medical history literature and modern literature,the origin,inheritance and academic characteristics of SHI's acupuncture and moxibustion were excavated,analyzed and sorted out.[Results]The culture of traditional Chinese medicine in northern Zhejiang is profound,there are many genres of acupuncture and moxibustion,and many famous doctors and scholars.The more influential schools of acupuncture and moxibustion are LING,SHI,YAN,SHENG and JIN,which have been passed down from generation to generation and innovated repeatedly.As one of the typical representatives,SHI's acupuncture has a long history,active inheritance and rich content.In clinical practice,great importance is attached to the spleen and stomach,and the treatment principle is to strengthen the spleen and benefit the stomach,warm and transport Yang Qi of middle-Jiao,and be good at applying warm acupuncture,so that Qi can be warmed and operated easier,and the acupuncture can be helped to regulate Qi.SHI's acupuncture also pays attention to the combination of acupuncture and moxibustion,and the combination of acupuncture and medicine to improve clinical efficacy.SHI's descendants are constantly innovating while inheriting and keeping the right,so as to enrich the disease spectrum,enrich the treatment methods and improve the clinical efficacy.[Conclusion]In the process of continuous inheritance and innovation,SHI's acupuncture has gradually formed a diagnosis and treatment system with acupuncture characteristics in northern Zhejiang,which can provide learning and reference for clinical practice.
Résumé
[Objective]To explore the inheritance thread of ZHANG's orthopedics department of Zhejiang school of traditional Chinese medicine(TCM)and the origin of the thought of"harmony",to sum up its academic characteristics,and enrich and develop the theoretical connotation of ZHANG's orthopedics department.[Methods]Through visiting the descendants and inheritors of ZHANG's orthopedics department,collecting and sorting out the existing manuscripts,case examination and other documents,consulting the ancient relevant orthopedic books,and summarizing their academic thoughts and characteristics.[Results]ZHANG's orthopedics department inherits the essence of Taoist culture,absorbs the essence of Confucian thought,inherits the essential technique of Buddhist bone-setting,relays the specialty of folk therapy,combines the technology of modern medicine,dedicates 200 years to medicine and inherits the feelings of helping the world.It has formed an academic school of orthopedics of TCM with the thought of"harmony"as the core,and featured with the theoretical system of holistic syndrome differentiation and comprehensive therapy,Qi and blood regulation,mutual use of muscles and bones,static and dynamic complementation,combination of prevention and treatment,and integration of form and spirit.[Conclusion]ZHANG's orthopedics department has learned from others,maintained the right path and innovation,laid equal emphasis on both Chinese and western.It has formed a complete and unique theoretical system of"harmony",which is of great significance to enrich the academic connotation of the orthopedics school of Zhejiang TCM and promote the cultural construction of"harmony"of the Chinese nation.
Résumé
Adolescence is a critical period for sexual maturation and physical growth, and the time of the first appearance of events during puberty initiation is called puberty timing. Recent studies have shown that abnormal changes in the pubertal timing are mainly influenced by genetic, environmental, nutritional, ethnic, and early-life factors. This review focuses on the current research progress of factors influencing puberty onset phase and related disease, in order to provide theoretical basis for prevention of clinical related diseases.
Résumé
Red doctor’s culture is a characteristic cultural system in the field of red and health during the revolutionary period， as well as an important part of China’s revolutionary culture. It differs from general medical culture， and its formation and development has unique historical implications. Therefore， it is necessary to deeply analyze the basic connotation of red doctor’s culture and explore the contemporary value it contains. In the new era， inheriting the red doctor’s culture is of great significance， which can effectively promote the construction of a healthy China in the new era， provide high-quality resources for ideological and political education in the new era， and become a new approach to inheriting the red gene. The successful inheritance of the red doctor’s culture is inseparable from the joint efforts of all sectors of society. Strengthening scientific research， optimizing the educational environment， and increasing cultural propaganda， can assist in the inheritance of red doctor’s culture， open a new chapter of it， make the red doctor’s culture deeply penetrate people’s hearts， and let the red bloodline be passed down from generation to generation.
Résumé
The spirit of red doctor’s is an important ideological and spiritual wealth formed by the Communist Party of China in the process of revolutionary practice. It is an important part of the spirit of the Communist Party of China. It is composed of firm ideals and beliefs, noble value orientation, superb professional skills and simple work style. In view of the current medical humanities education problems such as insufficient attention, target alienation, and technology worship, how to explore the point of convergence between the spiritual education of the red doctor’s and the cultivation of the professional spirit of medical students from the perspective of the Healthy China strategy, give full play to the value of the era of the red doctor’s spirit and cultivate medical students’ professional spirit, which has important practical value for resolving doctor-patient contradictions and improving professional and technical level. Medical colleges and universities should promote the integration strategy of red doctor’s spirit and medical students’ professional spirit education at the levels of teachers, education and teaching, cultural inheritance and educational environment, improve the effect of professional spirit education with diversified teaching, let excellent teams cultivate the professional spirit of medical students, and make the red doctor’s spirit become the conscious value pursuit of medical students.
Résumé
The great anti-epidemic spirit is the brightest spiritual symbol of the anti-epidemic struggle and the inheritance and development of the spirit of patriotism, collectivism and socialism. Under the context of normalized epidemic prevention and control, it is necessary to give full play to the leading role of the great anti-epidemic spirit and explore the new mode of innovation and entrepreneurship education of "ideological and creative integration" in Traditional Chinese Medicine(TCM) universities. Summarized the educational value of anti-epidemic spirit, boost TCM universities to realize cultural education and promote TCM cultural inheritance and innovation; analyzed the difficulties existing in the process of "ideological and creative integration" in TCM universities, and provide accurate direction for optimizing the path of "ideological and creative integration" in TCM universities. To explore the multiple paths of "ideological and creative integration" in TCM universities requires multi-party cooperation, joint management, accelerating the optimization of "ideological and creative integration", and establishing a hierarchical "ideological and creative integration" system, so as to provide new ideas for us to implement the educational goal of "establishing moral integrity in cultivation" under the background of normalized epidemic prevention and control.
Résumé
As an important part of the spiritual pedigree of the Communist Party of China, the "westward relocation spirit" has profound theoretical value and practical significance for the ideological and political education and career planning of contemporary medical students. Therefore, through detailed interpretation of the educational value of the "westward relocation spirit", this paper analyzed the inheritance path of the "westward relocation spirit" from the four levels of state, society, schools and individuals, in order to cultivate medical students to form a correct grass-roots employment consciousness, and coordinate the contradiction between social development and personal needs. It provides a clear direction for shaping the "new successor of westward relocation" under the command of the Party and comprehensively improving the modernization of medical students’ service at the grass-roots level.
Résumé
ABSTRACT Purpose: Stargardt-like phenotype has been described as associated with pathogenic variants besides the ABCA4 gene. This study aimed to describe four cases with retinal appearance of Stargardt disease phenotypes and unexpected molecular findings. Methods: This report reviewed medical records of four patients with macular dystrophy and clinical features of Stargardt disease. Ophthalmic examination, fundus imaging, and next-generation sequencing were performed to evaluate pathogenic variants related to the phenotypes. Results: Patients presented macular atrophy and pigmentary changes suggesting Stargardt disease. The phenotypes of the two patients were associated with autosomal dominant inheritance pattern genes (RIMS1 and CRX) and in the other two patients were associated with recessive dominant inheritance pattern genes (CRB1 and RDH12) with variants predicted to be pathogenic. Conclusion: Macular dystrophies may have phenotypic similarities to Stargardt-like phenotype associated with other genes besides the classic ones.
RESUMO Objetivo: Fenótipos Stargardt-like já foram asso-ciados a variantes patogênicas no gene ABCA4. O propósito desse estudo é descrever quatro pacientes com achados retinianos semelhantes a doença de Stargardt com resultados moleculares diferentes do esperado. Métodos: Esse relato fez a revisão de prontuários médicos de quatro pacientes com distrofia macular e achados clínicos sugestivos de doença de Stargardt. Foram realizados avaliação oftalmológica, exames de imagens e testes usando next generation sequencing para avaliar variantes patogênicas associadas aos fenótipos dos pacientes. Resultados: Os pacientes apresentavam atrofia macular e alterações pigmentares sugerindo achados clínicos de doença de Stargardt. Dois pacientes foram associados a genes com herança autossômica dominante (RIMS1 e CRX) e dois pacientes foram associados a genes com herança autossômica recessiva (CRB1 e RDH12) com variantes preditoras de serem patogênicas. Conclusão: Distrofias maculares podem ter similaridades fenotípicas com fenótipo de Stargardt-like associados a outros genes além dos classicamente já descritos.
Résumé
Resumen La deficiencia congénita de factor VII es uno de los desórdenes congénitos de la coagulación más comunes, con una prevalencia a nivel mundial de 1:300,000- 1:500,000. Se presenta el caso de un paciente masculino de 37 semanas y 5 días, nacido por cesárea intraparto y con el antecedente heredofamiliar de muerte de hermano a los 4 días de nacido por hemorragia intracraneal, quien a los 14 días de nacido es llevado a emergencias por sangrado umbilical que persistía después del desprendimiento del cordón. Su abordaje inicial incluyó la toma de tiempos de coagulación, lo que mostró alteración del tiempo de protrombina con tiempo de tromboplastina parcial y fibrinógeno normales. El sangrado, así como el tiempo de protrombina prolongado, persistió a pesar de que se administrara vitamina K en tres ocasiones y de transfundir plasma fresco congelado. Se sospechó defecto congénito de factor VII, que se confirmó con la cuantificación del factor. A los 2 meses y 10 días de edad, se le realizaron estudios moleculares basados en secuenciación masiva de nueva generación (NGS por sus siglas en inglés). El análisis determinó dos variantes heterocigotas: F7, intrón 5, c.430+1G>A y F7, intrón 8, c.805+1G>A. Actualmente, el paciente se maneja con profilaxis 5 días de la semana con factor VII recombinante 200 µg/día intravenoso (280 µg/kg) sin recurrencia de sangrados.
Abstract Factor VII congenital deficiency is one of the most common congenital deficiencies of the blood system, with a worldwide prevalence of 1:300,000- 1:500,000. Here we describe a male patient, born by C section, with the family history of death at 4 days old of a sibling caused by intracranial hemorrhage, who presented bleeding at the umbilical cord site at 14 days old, even after falling of the cord. The initial assessment included laboratory tests with coagulation times revealing prolonged prothrombin time, with normal partial thromboplastin time as well as fibrinogen. The bleeding and the prolonged prothrombin time persisted despite the administration of vitamin K in three doses as well as fresh frozen plasma. Congenital defect of factor VII was suspected and later confirmed by measuring the factor. At the age of 2 months and 10 days, molecular studies based on next-generation massive sequencing (NGS) were performed. The analysis exhibited two heterozygous variants: F7, intron 5, c.430+1G>A y F7, intron 8, c.805+1G>A. Currently the patient is receiving prophylaxis 5 days per week with recombinant factor VII 200 µg/ day intravenous (280 µg/kg) with no recurrent bleeding.
Sujets)
Humains , Mâle , Nourrisson , Hémorragies intracrâniennes/diagnostic , Déficit en facteur VII/diagnostic , Costa Rica , HéréditéRésumé
Objective:To explore the medication rules of Professor Wang Pei in the treatment of colon cancer.Methods:The medical records of Professor Wang Pei's outpatient treatment for colon cancer were collected, entered into the Traditional Chinese Medicine Inheritance Computing Platform V3.0, and the laws of the prescription's nature, flavor, meridian, drug frequency, drug combination, association rules, and cluster analysis were explored.Results:A total of 65 prescriptions were collected, including 150 Chinese materia medica. The medicinal properties of these Chinese materia medica are mainly warm, cold and flat, the tastes were mainly sweet, bitter and pungent, and the meridians were mainly liver, spleen and kidney meridians. Dampness category and blood circulation promoting and blood stasis category were mainly used, and the most frequently used drugs include Poria, Polyporus, Scutellariae Barbatae Herba, Astragali Radix, Curcumae Rhizoma, and the pairs of Polyporus- Poria, Astragali Radix- Astragali Radix Praeparata cum Melle, Scutellariae Barbatae Herba- Curcumae Rhizoma. Twenty nine high-related drug pairs were obtained from association rules, including Polyporus- Astragali Radix Praeparata cum Melle- Astragali Radix, Poria- Scutellariae Barbatae Herba- Polyporus, Scutellariae Barbatae Herba- Curcumae Rhizoma- Polyporus. The cluster analysis showed the combination of 6 types of medicines mainly focuses on strengthening the spleen and removing dampness, nourishing qi and promoting blood, clearing heat and detoxifying, and astringing the intestines to stop bleeding. Conclusion:Professor Wang Pei mostly discusses the treatment of colon cancer from "spleen dampness, rectification deficiency, heat toxin, blood stasis, bleeding", and the treatment is "invigorating the spleen and removing dampness, invigorating Qi and strengthening the body, clearing away heat and detoxifying, promoting blood circulation and removing blood stasis, and astringent intestines to stop bleeding", which is in line with the thought of Traditional Chinese Medicine treatment of tumors, strengthening the righteousness and eliminating pathogenic factors, and and can be used for clinical reference.
Résumé
Objective:To analyze the medication law of external application of TCM in the treatment of psoriasis vulgaris (PV) by using data mining method.Methods:Clinical controlled trial literature about external application of TCM in the treatment of PV was retrieved from CNKI, VIP, WanFang, SinoMed, PubMed and Cochrane Library from the establishment of the databases to May 23, 2022. Prescriptions were extracted after screening. TCM inheritance computing platform V3.0 was used to analyze the property, taste, meridian, efficacy, use frequency, common medicinal pairs and the core combinations.Results:A total 186 prescriptions were included, involving 190 kinds of Chinese materia medica. The medicines were mostly bitter and cold in property and taste, mainly belonging to the liver and heart meridians. Heat-clearing drugs were mainly used, followed by blood circulation-activating and stasis-eliminating medicines, and tonic medicines. The ten most frequently used medicines were Sophorae Flavescentis Radix, Dictamni Cortex, Phellodendri Chinensis Cortex, Kochiae Fructus, Angelicae Sinensis Radix, Salviea Miltiorrhizae Radix et Rhizoma, Poria, Rehmannine Radix, and Arnebiae Radix; the 3 commonly used medicinal pairs were Sophorae Flavescentis Radix- Dictamni Cortex, Sophorae Flavescentis Radix- Cnidii Fructus, and Sophorae Flavescentis Radix- Kochiae Fructus; 4 combinations were obtained through evolution. Conclusions:External application of TCM for the treatment of PV is around the core pathogenesis of "heat toxin", mainly treating from the blood, including cooling blood and detoxifcation, activating blood circulation and removing stasis, nourishing the blood and moistening dryness. Clearing heat and drying dampness, dispelling wind and relieving itching are also valued. The treating thoughts can provide some references for clinical treatment.
Résumé
Objective:To improve clinicians' understanding of congenital nephrogenital diabetes insipidus (CNDI) and to reduce missed and misdiagnosis. Methords Based on the literature, the clinical data and gene mutation of 2 patients with CNDI who were admitted to the Department of Endocrinology and Metabolism of the First Affiliated Hospital of Henan University of Science and Technology on July 30, 2020 were analyzed retrospectively. Results:(1) The presentee, 4 years old, had irritable thirst, polydipsia and polyuria for more than 3 years. The sister, 2.5 years old, had irritable thirst, polydipsia and polyuria for more than 2 years. The clinical diagnosis was “CNDI”, and the symptoms improved after treatment with hydrochlorothiazide. (2) The genetic test revealed that the congenital nephrogenic uremia and her sister had a heterozygous mutation of c.170A>C (p.Q57P) and c.211G>A (p.Vl71M) in the aquaporin-2 gene, and the mother carried the AQP2 gene. c.170A>C(p.Q57P) mutation.Conclusion:CNDI is a rare disease. Early diagnosis and treatment can improve the prognosis of patients to the greatest extent, and prenatal diagnosis can guide eugenics.
Résumé
Objective:Through the investigation of the pathogenicity of COL4A4 heterozygous splicing mutations and the genotype-phenotype correlation in autosomal dominant Alport syndrome (ADAS), to better understand the impact of COL4A4 heterozygous splicing mutations on ADAS. Methods:The study was a case series analysis. Patients from 5 ADAS families with COL4A4 heterozygous splicing mutations detected by whole exome sequencing were recruited by three hospitals. In vivo transcriptional analysis and/or in vitro minigene splicing assay were conducted to determine the splicing patterns and assess the pathogenicity of COL4A4 heterozygous splicing mutations. Results:In the five ADAS pedigrees carrying COL4A4 heterozygous splicing mutations, four novel ADAS splicing patterns were described. In pedigree 1-4, most patients presented with continuous hematuria or/and microalbuminuria. Otherwise,the proband in pedigree 4 presented with macroalbuminuria and the proband in pedigree 1 had progressed to chronic kidney disease stage 2 at the age of 70 years old. In pedigree 5, all patients developed end-stage renal disease between 28 and 41 years old. c.735+3A>G detected in pedigree 1 and pedigree 2 and c.694-1G>C detected in pedigree 3 both led to exon 12 skipping in COL4A4, resulting in 42 nucleotides in-frame deletion (c.694_735del). c.2056+3A>G detected in pedigree 4 led to COL4A4 exon 26 skipping, which caused in-frame deletion of 69 nucleotides (c.1988_2056del). c.2716+5G>T detected in pedigree 5 led to a 360 nucleotides large in-frame deletion, including 100 bp sequence at the 3'end of exon 29,the whole sequence of exon 30 and 89 bp sequence at the 5'end of exon 31 (c.2446_2805del). Conclusions:Renal prognosis differs significantly for patients with small in-frame deletions versus large in-frame deletion splicing abnormalities. Determination of the pathogenicity and the splicing patterns of COL4A4 heterozygous splicing mutations using in vivo and in vitro transcriptional analysis may provide renal prognostic information.
Résumé
The occurrence and development of many eye diseases are closely related to genetic and environmental factors, among which epigenetic modification is an important bridge connecting genetic and environmental factors. It can affect the levels of related genes by influencing gene transcription or translation, thereby playing a role in the pathogenesis of ocular diseases. DNA methylation is an important part of epigenetic modification which is usually regulated by three processes: de novo methylation, maintenance methylation, and demethylation, and plays an essential role in regulating gene expression. At present, researchers have conducted that DNA methylation plays an important role in repair of damage to corneal endothelium, mitochondrial dynamics regulation and diabetic retinopathy, oxidative stress response and cataracts and other eye diseases, providing new ideas in the treatment of related ocular diseases. This study presented a brief review of the role of DNA methylation in the development of related ocular diseases and provided new perspectives and directions for the screening, diagnosis, and treatment of eye diseases.