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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.
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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.
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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.
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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.
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@#The experience of famous and veteran physicians in traditional Chinese medicine （TCM） is a supplement to the cognition of industry groups and a high-quality learning resource. Digital inheritance of the experience of famous and veteran TCM physicians refers to the use of digital technology to record， organize， protect， spread， share and innovate the knowledge， skills and experiences of famous and veteran TCM physicians， which helps to overcome the inefficiency of traditional experience inheritance and realize the inheritance and development of TCM culture. Digital inheritance has certain advantages in accessibility， loss resistance， accuracy， innovation ability and effectiveness， which can assist the digital preservation， analysis and excavation of the experience of famous and veteran TCM physicians， and is an important supplement to the traditional way of learning from teachers. Digital inheritance is usually divided into the following steps： building a database of TCM knowledge， building a database of experienced medical records of famous and veteran TCM physicians， discovering laws by data mining， and assisting clinical decision-making with machine learning. The digital inheritance of famous and veteran TCM physicians is not only the use of experience information， but also the process of innovation and productization based on experience， which may become a new service model of TCM diagnosis and treatment.
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ObjectiveTo study the medication rules of Professor. WANG Xingkuan and inherit his academic experience in the treatment of chest stuffiness and pain with the aid of the Traditional Chinese Medicine Inheritance Computing Platform V3.0 （TCMICS V3.0）. MethodThe original medical records of patients with angina pectoris in coronary heart disease （CHD） diagnosed and treated by Prof. WANG in the outpatient department of Hunan University of Chinese Medicine from 2017 to 2020 were collected and entered into the TCMICS V3.0. The rules of prescriptions and drugs were analyzed by the software. ResultA total of 1 044 prescriptions of Prof. WANG for the treatment of chest stuffiness and pain were collected. Most of the drugs were sweet and bitter in flavor and mainly acted on the lung meridian， followed by heart， spleen， liver， stomach， and kidney meridians. Among the prescriptions， Shengmaisan was the most commonly used classic prescription， and Xintongling No. Ⅲ was the top experienced prescription. High-frequency drugs mainly included Ophiopogonis Radix， Pinelliae Rhizoma， Salviae Miltiorrhizae Radix et Rhizoma， Trichosanthis Pericarpium， Coptidis Rhizoma， Schisandrae Chinensis Fructus， and Bupleuri Radix. The common doses of drugs were 3， 5， 10， and 15 g. The analysis of formulation rules revealed 129 combinations of common drugs， 58 combinations with confidence > 0.99， and the core drugs of common syndromes. Six core drug combinations were obtained by drug clustering. ConclusionProfessor WANG treats chest stuffiness and pain based on syndrome differentiation following the principles of benefiting Qi， nourishing Yin， eliminating phlegm， resolving stasis， soothing liver， and promoting bile secretion， reflecting his academic idea of "regulation of multiple organs and comprehensive treatment". The core prescriptions can be used for reference by clinical practitioners， but further clinical and experimental studies are still needed to verify their efficacy.
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Dao-di medicinal materials produced in a specific environment always present excellent appearance and high quality. Because of the unique appearance, Ginseng Radix et Rhizoma is regarded as a paradigm in the research on excellent appearance. This paper systematically summarized the research progress in the genetic and environmental factors influencing the formation of the excellent appearance of Ginseng Radix et Rhizoma, aiming to provide reference for the quality improvement of Ginseng Radix et Rhizoma and the scientific connotation of Dao-di Chinese medicinal materials. The Ginseng Radix et Rhizoma with high quality generally has a robust and long rhizome, a large angle between branch roots, and the simultaneous presence of a robust basal part of rhizome, adventitious roots, rhizome bark with circular wrinkles, and fibrous roots with pearl points. The cultivated and wild Ginseng Radix et Rhizoma have significant differences in the appearance and no significant difference in the population genetic diversity. The differences in the appearance are associated with cell wall modification, transcriptional regulation of genes involved in plant hormone transduction, DNA methylation, and miRNA regulation. The rhizosphere soil microorganisms including Fusarium and Alternaria, as well as the endophytes Trichoderma hamatum and Nectria haematococca, may be the key microorganisms affecting the growth and development of Panax ginseng. Cultivation mode, variety, and root exudates may be the main factors influencing the stability of rhizosphere microbial community. Ginsenosides may be involved in the formation of the excellent appearance. However, most of the available studies focus on the partial or single factors in the formation of Dao-di medicinal materials, ignoring the relationship within the complex ecosystems, which limits the research on the formation mechanism of Dao-di medicinal materials. In the future, the experimental models for the research involving genetic and environmental factors should be established and mutant materials should be developed to clarify the internal relationship between factors and provide scientific support for the research on Dao-di medicinal materials.
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Alternaria , Microbiota , Panax/genetics , RhizomeABSTRACT
The development status of the first 11 inheritance studios of acupuncture and moxibustion academic schools is summarized. Aiming at the current problems, it is suggested to establish qualitative and quantitative evaluation standards and establish a fair and reasonable evaluation system, build a systematic scientific theory and excavate the inherent laws of the schools, implement standardized management of the schools and protect the personalized characteristics of the schools, open outpatient clinic of acupuncture and moxibustion schools and promote the characteristic diagnosis and treatment technology, to promote the inheritance and development of acupuncture and moxibustion academic schools.
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Moxibustion , Acupuncture Therapy , SchoolsABSTRACT
Qilu acupuncture and moxibustion has promoted the formation and development of traditional Chinese medicine, which has a special historical position. By systematically collecting, sorting out and summarizing the characteristic acupuncture methods and academic ideas of several Qilu acupuncturists since the founding of the People's Republic of China, the understanding of the advantages and characteristics of Qilu modern acupuncture methods is deepened, aiming to exploring the inheritance and development pattern of Qilu acupuncture methods in the new era.
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Humans , Acupuncture Therapy , Moxibustion , Acupuncture , Medicine, Chinese Traditional , ChinaABSTRACT
The experience of famous and veteran physicians in traditional Chinese medicine （TCM） is a supplement to the cognition of industry groups and a high-quality learning resource. Digital inheritance of the experience of famous and veteran TCM physicians refers to the use of digital technology to record， organize， protect， spread， share and innovate the knowledge， skills and experiences of famous and veteran TCM physicians， which helps to overcome the inefficiency of traditional experience inheritance and realize the inheritance and development of TCM culture. Digital inheritance has certain advantages in accessibility， loss resistance， accuracy， innovation ability and effectiveness， which can assist the digital preservation， analysis and excavation of the experience of famous and veteran TCM physicians， and is an important supplement to the traditional way of learning from teachers. Digital inheritance is usually divided into the following steps： building a database of TCM knowledge， building a database of experienced medical records of famous and veteran TCM physicians， discovering laws by data mining， and assisting clinical decision-making with machine learning. The digital inheritance of famous and veteran TCM physicians is not only the use of experience information， but also the process of innovation and productization based on experience， which may become a new service model of TCM diagnosis and treatment.
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The paper reviews the inheritance, innovation and development of heat-sensitive moxibustion; and explores the path for the clinical development of moxibustion of traditional Chinese medicine moxibustion (TCM). Practice has shown that the laws of clinical research on TCM moxibustion refer to phenomenon discovery, exploration of rules, technological innovation, verification of curative effects, theory sublimation, returning to clinical practice, discipline construction, and experimental research. It is deeply realized that TCM research should be based on clinical practice, originated from classics, focused on theoretical innovation and in serve of clinical practice.
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Moxibustion , Medicine, Chinese Traditional , Hot TemperatureABSTRACT
In recent years, the State has intensified efforts to develop folk Traditional Chinese Medicine (TCM). Shaanxi Province is a large province with rich TCM resources. However, the certificate holding rate of folk TCM in Shaanxi is low, the inheritance of medical skills is not optimistic; the core skills of folk TCM are lack of protection; the traditional folk diagnosis and treatment technology is lack of corresponding standards, and the clinical promotion is difficult, which makes the advantages of folk TCM not fully play. It was suggested that strengthen the assessment of Shaanxi Province’s real expertise, take measures to promote the inheritance, enhance the intellectual property protection of folk TCM in the province, intensify the research and formulation of local folk TCM screening and evaluation standards, and vigorously promote the clinical application of folk TCM in the province, so as to promote the inheritance, protection and development of folk TCM in Shaanxi Province.
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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.
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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.
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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.
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El síndrome de Adams-Oliver es un trastorno congénito raro, caracterizado por aplasia cutis congénita en el cuero cabelludo, defectos terminales transversales de las extremidades y piel marmorata telangiectásica congénita. Este puede presentarse debido a diferentes patrones de herencia de tipo autosómico dominante o autosómico recesivo, o por mutaciones dominantes de novo. Aunque el síndrome de Adams-Oliver es una enfermedad poco frecuente, es importante conocer sus características clínicas y patrones de herencia, para así establecer un correcto diagnóstico y sus posibles complicaciones durante el seguimiento. En el presente estudio, se describe el caso de una adolescente con síndrome de Adams-Oliver con patrón de herencia autosómica dominante, hipertensión pulmonar y bronquitis plástica. Había varios miembros de su familia con el mismo compromiso
The Adams-Oliver syndrome is a rare congenital disorder characterized by aplasia cutis congenita of the scalp, terminal transverse limb defects, and congenital telangiectatic cutis marmorata. It can occur through different inheritance patterns: autosomal dominant, autosomal recessive, or de novo dominant mutations. Although the Adams-Oliver syndrome is a rare disease, it is essential to know its clinical characteristics and inheritance patterns, to establish a correct diagnosis and its possible complications during follow-up. In the present study, we describe the case of an adolescent with Adams-Oliver syndrome with an autosomal dominant inheritance pattern, pulmonary hypertension and plastic bronchitis, and several compromised family members.
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Syndrome , Rare Diseases , Ectodermal Dysplasia , Limb Deformities, Congenital , Inheritance PatternsABSTRACT
RESUMEN Fundamento: la cardiopatía isquémica es una entidad nosológica de origen multifactorial con predisposición genética y susceptible a cambios ambientales. Objetivo: determinar la existencia de agregación familiar para cardiopatía isquémica en pacientes atendidos en consulta de cardiología en el Hospital General Docente Vladimir Ilich Lenin de Holguín. Métodos: se realizó un estudio observacional, analítico de casos y controles (estudio de agregación familiar). La muestra quedó conformada por 60 nuevos pacientes con el diagnóstico de cardiopatía isquémica (casos) y por otros 60 pacientes sin diagnóstico de enfermedad coronaria (controles), pareadas en la razón 1:1. Se emplearon como variables: sexo, edad, antecedentes familiares de cardiopatía isquémica y factores de riesgo ambientales. Se utilizó el estadígrafo Chi cuadrado. Luego se calculó el Odds Ratio para conocer la magnitud de asociación mediante la razón de productos cruzados. Resultados: en el grupo casos existió una mayor frecuencia en el antecedente familiar para cardiopatía isquémica, fue más elevada para los familiares de primer grado con 31 familiares y un 41,3 %. La hiperlipidemia se presentó como el factor de riesgo de mayor frecuencia con 36,7 % en el grupo casos y 37,1 % en el grupo controles. Se determinó un riesgo aproximadamente 4 veces mayor de padecer cardiopatía isquémica en aquellos individuos con historia familiar positiva de primer grado, mientras que los pacientes con hiperlipidemia tienen 4,8 más riesgo de padecer cardiopatía isquémica. Conclusiones: existe agregación familiar para cardiopatía isquémica y se mostró un riesgo mayor de enfermar los pacientes con historia familiar positiva para la enfermedad, principalmente con familiares de primer grado y con hiperlipidemia.
ABSTRACT Background: ischemic heart disease is a nosological entity of multifactorial origin with genetic predisposition and susceptible to environmental changes. Objective: to determine the existence of familial aggregation for ischemic heart disease in patients seen in the cardiology clinic at the Vladimir Ilich Lenin General Teaching Hospital in Holguín. Methods: an analytical observational study of cases and controls (family aggregation study) was carried out. The sample was made up of 60 new patients with a diagnosis of ischemic heart disease (cases) and another 60 patients without a diagnosis of coronary heart disease (controls), paired in a 1:1 ratio. The following variables were used: sex, age, family history of ischemic heart disease and environmental risk factors: smoking, hyperlipidemia, high blood pressure and sedentary lifestyle. The Chi square statistician was used by the Mantel-Haenszel method. The odds ratio (OR) was then calculated to determine the magnitude of association through the ratio of cross products. Results: in the case group there was a higher frequency in the family history for ischemic heart disease, being higher for first degree relatives with 31 relatives and 41.3 %. Hyperlipidemia was the most frequent risk factor with 36.7 % in the case group and 37.1 % in the control group. An approximately 4-fold increased risk of suffering from ischemic heart disease was determined in those individuals with a positive first-degree family history, while patients with hyperlipidemia have a 4.8 times greater risk of suffering from ischemic heart disease. Conclusions: there is family aggregation for ischemic heart disease and a higher risk of getting sick was shown in patients with a positive family history for the disease, mainly with first-degree relatives and with hyperlipidemia.
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Background: No dairy breed or crossbreed has superior overall performance in all environments; therefore, it is necessary to determine which crossbreed is the most suitable for the Mexican tropic and what proportion of European breed is optimum for reproduction. Objective: To assess the effect of the proportion of Bos taurus (Bt) genes on reproductive performance of Holstein×Zebu (HZ) and Brown Swiss×Zebu (BZ) cows, and compare reproductive performance of these genotypes in a dual- purpose production system. Methods: Cows were maintained in a rotational grazing system on African star grass (Cynodon plectostachyus) in Veracruz, Mexico. Cows were milked twice daily. Calves were kept tied to the side of their dams while the cows were milked. Results: The percentage of Bt genes did not affect (p>0.05) fertility traits (age at first calving, days to first service after calving, services per conception, conception rate at first service, days open until conception, gestation length, and calving interval) of BZ cows. In contrast, HZ cows with less than 75% Holstein (H) genes were 0.3 years younger (p<0.05) at first calving and had 39.8 fewer days open (p<0.05) than HZ cows with 75% H genes or more. In addition, the calving interval of HZ cows with less than 75% H genes was 44.8 days shorter (p<0.05) than that of HZ cows with 75% H genes or more. The HZ cows had five fewer days pregnant and were 22.8 kg heavier at calving (p<0.05) than BZ cows. Conclusions: The effect of the percentage of Bt genes on cow fertility depends on the dairy breed used. In general, BZ and HZ cows present similar reproductive performance.
Antecedentes: Ninguna raza lechera o cruce tiene un desempeño general superior en todos los ambientes; por lo tanto, es necesario determinar cuál cruce lechero es más apropiado en el trópico mexicano y qué proporción de raza europea es óptima para la reproducción. Objetivo: Evaluar el efecto de la proporción de genes Bos taurus (Bt) en el desempeño reproductivo de vacas cruzadas Holstein×Cebú (HC) y Pardo Suizo×Cebú (PC), y comparar el desempeño reproductivo de estos dos genotipos en un sistema de producción doble propósito. Métodos: Las vacas se mantuvieron en un sistema de pastoreo rotacional en zacate Estrella de África (Cynodon plectostachyus) en Veracruz, México. Las vacas se ordeñaron dos veces al día. Los becerros se mantuvieron atados, a un costado de sus madres mientras éstas se ordeñaron. Resultados: El porcentaje de genes Bt no afectó (p>0,05) ninguna característica de fertilidad (edad a primer parto, días a primer servicio después del parto, servicios por concepción, tasa de preñez a primer servicio, días abiertos a la concepción, duración de la gestación, e intervalo entre partos) de las vacas PC. En contraste, las vacas HC con menos de 75% de genes Holstein (H) fueron 0,3 años más jóvenes (p<0,05) al primer parto y tuvieron 39,8 días abiertos menos (p<0,05) que las vacas HC con 75% de genes H o más. Además, el intervalo entre partos de las vacas HC con menos de 75% de genes H fue 44,8 días más corto (p<0,05) que el de las vacas HC con 75% de genes H o más. Las vacas HC tuvieron cinco días de gestación menos y fueron 22,8 kg más pesadas al parto (p<0,05) que las PC. Conclusiones: El efecto del porcentaje de genes Bt sobre la fertilidad de la vaca depende de la raza lechera usada. En general, las vacas PC y HC tienen similar desempeño reproductivo.
Antecedentes: Nenhuma raça ou cruza leiteira tem desempenho geral superior em todos os ambientes; portanto, é necessário determinar qual cruza leiteira é mais apropriada no trópico mexicano e qual proporção da raça europeia é ideal para a reprodução das vacas. Objetivo: Avaliar o efeito da proporção de genes Bos taurus (Bt) no desempenho reprodutivo de vacas Holandês×Zebu (HZ) e Pardo Suíço×Zebu (PZ), e comparar o desempenho reprodutivo desses dois genótipos em sistema de produção de dupla aptidão. Métodos: As vacas foram mantidas em sistema de pastoreio rotacional em capim Estrela de África (Cynodon plectostachyus) em Veracruz, México. As vacas foram ordenhadas duas vezes por dia. Os bezerros foram mantidos ao lado de suas mães enquanto eram ordenhadas. Resultados: A porcentagem dos genes Bt não afetou (p>0,05) nenhuma característica de fertilidade (idade ao primeiro parto, número de dias para o primeiro serviço pós-parto, serviços por concepção, taxa de prenhes no primeiro serviço, dias abertos, período de gestação e intervalo entre partos) das vacas PZ. Em contraste, vacas HC com menos de 75% dos genes Holandês (H) eram 0,3 anos mais jovens (p<0,05) no primeiro parto e tiveram 39,8 dias abertos a menos (p<0,05) do que as vacas HZ com 75% ou mais dos genes H. Além disso, o intervalo de parto das vacas HZ com menos de 75% dos genes H foram 44,8 dias mais curtos (p<0,05) do que as vacas HZ com 75% ou mais de genes H. As vacas HZ tiveram cinco dias de gestação a menos e foram 22,8 kg mais pesadas no parto (p<0,05) do que as PZ. Conclusões: O efeito da porcentagem de genes Bt na fertilidade da vaca dependeu da raça leiteira utilizada. Em geral, as vacas PZ e HZ tiveram desempenho reprodutivo semelhante.
ABSTRACT
Objective:To analyze the rules of medication and principles of formulas for the treatment of coronavirus disease 2019 (COVID-19) using the traditional Chinese medicine inheritance support platform (V2.5).Methods:The clinical data, including gender, age, clinical symptoms, frequency of traditional Chinese medicine medication and prescription information, of patients with COVID-19 and asymptomatic infection who were admitted to Hebei COVID-19 designated hospital supported by medical team of First Affiliated Hospital of Hebei University of Chinese Medicine from January to March 2021 were collected. The information data were input into the traditional Chinese medicine inheritance support platform (V2.5). The data mining and analysis were realized by the integrated association rules and complex entropy clustering analysis methods of the software, including the analysis of the frequency of each drug use, drug meridian, taste, and prescription rules, and the new prescriptions were developed.Results:A total of 564 patients (564 prescriptions) were enrolled, involving 200 Chinese herbs, including 357 cases of common COVID-19 and 207 cases of asymptomatic infection. The proportion of women with common COVID-19 was high, and the high incidence age group was 51-70 years old. There was no significant difference in gender of asymptomatic infection, and the high incidence age group was 1-20 years old. The main clinical manifestations of most patients were head heavy and cough, followed by low fever and cough with sputum, the main tongue coating and pulse pattern were similar in both types of patients. The frequency of traditional Chinese medicine used in patients with common type of COVID-19 from high to low was liquorice root (326 times), indian bread (264 times), pinellia tuber (263 times), bitter apricot seed (236 times), baical skullcap root (229 times), gypsum (205 times), agastache rugosus (201 times), dried tangerine peel (194 times), ephedra (184 times), and Chinese thorowax root (163 times), while that used by asymptomatic infection were baical skullcap root (174 times), liquorice root (142 times), medicated leaven (137 times), agastache rugosus (127 times), pinellia tuber (114 times), Chinese thorowax root (100 times), officinal magnolia bark (91 times), atractylodes rhizome (89 times), peony root (84 times), and milkvetch root (83 times). The two types of patients were mainly treated with warm, cold and flat drugs, and the nature and taste were mainly pungent, bitter and sweet. The meridian tropism of drugs was mainly lung, spleen and stomach. High frequency drug formulation mainly included drugs for resolving turbidity and detoxification. At the same time, seven new prescriptions for common COVID-19 and four new prescriptions for asymptomatic infection were developed.Conclusions:The primary reason for the COVID-19 occurrence and development is turbidity-toxin and the qi of plague, and resolving turbidity and detoxication are the basic treating principle. On the basis, for patients with common COVID-19, symptomatic treatment such as relieving exterior syndrome, clearing heat, resolving phlegm, and antitussive drugs should be taken into account at the same time, while the treatment of asymptomatic infections should focus more on supporting the body and eliminating the harmful pathogens.
ABSTRACT
Objective:To analyze the clinicopathological and gene mutation characteristics of children with autosomal dominant inheritance Alport syndrome (ADAS), and to improve the understanding of ADAS.Methods:Ten children with ADAS diagnosed in the Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology from September 2016 to February 2020 were enrolled.The clinicopathological and gene mutation features were retrospectively analyzed, and the patients were followed up.Results:(1) The median age at diagnosis was 5.7 (2.4, 9.8) years.Of 10 children, 6 cases (60.0%) showed a family history of renal failure, 4 cases (40.0%) presented with hematuria and proteinuria at diagnosis, and 2 cases (20.0%) suffered a high-frequency hearing loss.Renal biopsy showed extensive splitting and lamellation of the glomerular basement membrane (GBM) dense layer in 4 cases (40.0%), and segmental splitting and lamellation in 6 cases (60.0%). (2)Among 10 children, 4 cases (40.0%) were heterozygous mutations of COL4A3 gene, including 2 point mutations of glycine, and 2 splicing mutations.The other 6 cases (60.0%) were heterozygous mutations of COL4A4 gene, including collagen glycine point mutations in 4 cases, nonsense mutation in 1 case and large deletion in 1 case.Six mutations were new and never reported before. Conclusions:The early clinical presentations of children with ADAS are often atypical and extrarenal manifestations are less common.The GBM dense layer is mainly featured by segmental splitting and lamellation.Glycine point mutations account for the majority of the gene mutations.