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1.
China Pharmacy ; (12): 758-761, 2024.
Artigo em Chinês | WPRIM | ID: wpr-1013115

RESUMO

OBJECTIVE To explore suitable storage and transportation conditions for “internet plus drug delivery” under high- temperature conditions. METHODS A survey on high-temperature conditions in summer in Beijing was conducted; a retrospective analysis was conducted on “internet plus drug delivery” orders in our hospital from July 2021 to June 2022, summarizing the proportion and delivery range of drugs under different storage and transportation conditions. Additionally, simulation and validation experiments were performed to investigate optimal drug storage and transportation devices for “internet plus drug delivery” in Beijing under high-temperature conditions in summer. RESULTS The monthly average temperature in Beijing from June to August consistently exceeded 25.0 ℃ between 1991 and 2022. From July 2021 to June 2022, a total of 104 drugs were required to be stored below 25.0 ℃, accounting for 31.23% of the 333 drugs listed in our hospital’s “internet plus drug delivery” catalog in Beijing. These drugs were delivered 1 058 times, accounting for 19.63% of the total deliveries. Simulation and validation experiments demonstrated that the average maximum temperature during the next-day delivery process of “carton + foam box + composite aluminum film pearl cotton + 500 g ice bag×2 + gas column bag” was 9.6 ℃, the average minimum temperature was 2.7 ℃, and all the temperatures remained below 15.0 ℃, which could effectively ensure the quality of drugs. CONCLUSIONS Under the high-temperature conditions in summer in Beijing, the storage and transportation device of “carton + foam box + composite aluminum film pearl cotton + 500 g ice bag×2 + gas column bag” can meet the temperature requirements specified in the drug storage instructions for Beijing intra-city drug delivery.

2.
Organ Transplantation ; (6): 178-184, 2024.
Artigo em Chinês | WPRIM | ID: wpr-1012486

RESUMO

Inherited metabolic liver disease (IMLD) is a category of liver metabolic diseases caused by genetic disorders. The pathogenesis of IMLD is complex, which primarily comprises the accumulation of harmful metabolic substrates or products caused by specific enzyme defects and energy defects or abnormal deposition caused by abnormal metabolism of glucose, fat and other substances. In recent years, liver transplantation has played an increasingly critical role in the treatment of IMLD with the development of liver transplantation. At present, IMLD has become the second most important indication after biliary atresia in pediatric liver transplantation. Currently, IMLD patients receiving liver transplantation can be divided into two categories: the first category is IMLD complicated with liver disease; Category 2 patients have a normal liver structure but are deficient in related metabolic enzymes. It can not only replace the liver with abnormal structure and function, but also provide normal enzymes required for patients' metabolism, which may improve their quality of life and even save their lives. In this article, common feasible liver transplantation for IMLD, clinical prognosis and surgical procedures of liver transplantation for IMLD were reviewed, aiming to provide reference for liver transplantation for IMLD.

3.
Rev. biol. trop ; 71(1)dic. 2023.
Artigo em Inglês | SaludCR, LILACS | ID: biblio-1514963

RESUMO

Introduction: The lack of knowledge on seed germination and seedling establishment is a main constraint for the restoration of degraded areas, including the tropical dry forest known as Caatinga. Objective: To assess reserve and secondary metabolite mobilization during seed germination and seedling establishment in Erythina velutina. Methods: We scarified, disinfected, imbibed, sown between towel paper, and incubated seeds under controlled conditions. We hydroponically cultivated seedlings in a greenhouse. We harvested cotyledons at seed imbibition, radicle protrusion, hypocotyl emergence, apical hook formation and expansion of cordiform leaves, first trifoliate leaf, and second trifoliate leaf. Results: Seeds contained approximately 20 % starch, 14.5 % storage proteins, 11.6 % neutral lipids, and 5.7 % non-reducing sugars on a dry weight basis. Soluble sugars were mainly consumed from hypocotyl emergence to apical hook formation, while major reserves were mobilized from apical hook formation to expansion of first trifoliate leaf. Enzymatic activity increased from mid to late seedling establishment, causing the mobilization of starch, oils, and proteins. Terpenoid-derivatives, flavonoids, phenolic acids, and alkaloids were detected. Flavonoids and phenolic acids were present at almost all stages and terpenoid-derivatives disappeared at expansion of cordiform leaves. Conclusion: Soluble sugars support early seedling growth, while starch, oils and proteins are simultaneously mobilized from mid to late establishment by amylases, lipases, and acid proteases. The cotyledons contain secondary metabolites, which may act in seedling defense. High content of reserves and presence of secondary metabolites in the cotyledons could enable E. velutina seedlings endure stress, validating their use in the restoration of degraded areas.


Introducción: La falta de conocimiento sobre la germinación de semillas y el establecimiento de plántulas es una de las principales limitaciones para la restauración de áreas degradadas, incluido el bosque seco tropical conocido como Caatinga. Objetivo: Evaluar la movilización de reservas y metabolitos secundarios durante estas etapas de desarrollo en Erythina velutina. Métodos: Las semillas fueron escarificadas, desinfectadas, embebidas, sembradas entre toallas de papel e incubadas bajo condiciones controladas. Cultivamos las plántulas hidropónicamente en un invernadero. Recolectamos los cotiledones en la imbibición de la semilla, la protrusión de la radícula, la emergencia del hipocótilo, la formación del gancho apical y la expansión de las hojas cordiformes, la primera y segunda hoja trifoliada. Resultados: Las semillas contenían 20 % de almidón, 14.5 % de proteínas de almacenamiento, 11.6 % de lípidos neutros y 5.7 % de azúcares no reductores en peso seco. Los azúcares solubles se consumieron desde la emergencia del hipocótilo hasta la formación del gancho apical. Las principales reservas se movilizaron desde la formación del gancho apical hasta la expansión de la primera hoja trifoliada. La actividad enzimática aumentó desde la mitad hasta el final del establecimiento de las plántulas, movilizando almidón, aceites y proteínas. Se detectaron derivados de terpenoides, flavonoides, ácidos fenólicos y alcaloides. Los flavonoides y los ácidos fenólicos estuvieron en casi todas las etapas y los derivados terpenoides desaparecieron en la expansión de las hojas cordiformes. Conclusión: Los azúcares solubles apoyan el crecimiento temprano de las plántulas; el almidón, los aceites y las proteínas se movilizan simultáneamente desde el establecimiento medio hasta el final por amilasas, lipasas y proteasas ácidas. Los cotiledones contienen metabolitos secundarios, que pueden actuar en la defensa de las plántulas. El alto contenido de reservas y los metabolitos secundarios en los cotiledones podría permitir que las plántulas de E. velutina toleren estrés, validando su uso en la restauración de áreas degradadas.


Assuntos
Germinação , Erythrina , Recuperação e Remediação Ambiental/métodos , Fabaceae , Brasil
4.
Acta neurol. colomb ; 39(3)sept. 2023.
Artigo em Espanhol | LILACS | ID: biblio-1533502

RESUMO

Introducción: La enfermedad de Pompe es una enfermedad genética multisistémica y rápidamente progresiva, que causa compromiso muscular (esquelético, cardíaco y liso), severa hipotonía y dificultad en la deglución. Debido a la naturaleza de la enfermedad, la calidad de vida de las personas que la padecen puede verse más afectada con respecto a la población general. Método: Se llevó a cabo un estudio descriptivo de corte transversal. Se diseñó un instrumento tipo encuesta con preguntas de caracterización sociodemográfica y referentes a la enfermedad. Para medir la calidad de vida se aplicó el Medical Outcomes Study 36-Item Short Form (SF-36) Questionnaire. Se hizo una comparación entre grupos, con nivel de significancia de 0,05. Resultados: Se obtuvieron encuestas de 27 pacientes de seis países. La edad media fue de 40,52 años, el 59 % fueron mujeres, el 51 % casados, el 63 % activos laboralmente, con edad media de diagnóstico de 30,3 años (SD = 15,557). La dimensión con menor media fue el rol físico (10,2; IC 95 % = 1,5-21,9), mientras que la de mayor media fue la salud mental (65,5; IC 95 % = 56,9-74,0). El 29,7 % (IC 95 % = 11,2-48,0) de los encuestados consideró sentirse en peores condiciones de salud que el año anterior. Discusión: Se evidencia una baja calidad de vida en pacientes con EP, en comparación con la población general, si se tienen en cuenta otros estudios que utilizan el mismo cuestionario. Conclusiones: Se evidencia una baja calidad de vida en los pacientes con enfermedad de Pompe participantes; las dimensiones asociadas con parámetros físicos fueron las de menores puntuaciones.


Introduction: Pompe disease is a rapidly progressive, multisystemic genetic disease that causes muscle involvement (skeletal, cardiac and smooth), severe hypotonia and difficulty in swallowing. Due to the nature of the disease, the quality of life may be more affected compared to the general population. Method: A descriptive cross-sectional study was carried out. A survey-type instrument was designed with questions of sociodemographic characterization and those referring to the disease. To measure Quality of Life, the Medical Outcomes Study 36-Item Short Form (SF-36) questionnaire was applied. A comparison was made between groups with a significance level of 0,05. Results: 27 surveys of patients from six countries were obtained. The mean age 40.52 years, women 59 %, married 51 %, 63 % active in employment, with a mean age of diagnosis of 30.3 years (SD = 15,557). The dimension with the lowest mean was the Physical Role (10.2; 95 % CI = 1.5 - 21.9), while the one with the highest mean was the Mental Health dimension (65.5; 95 % CI = 56.9 - 74.0). 29.7 % (95 % CI = 11.2 - 48.0) of those surveyed considered they felt in worse health conditions than the previous year. Discussion: Low quality of life is evidenced in patients with PD in comparison to the general population described in other studies using the same questionnaire. Conclusions: A low quality of life is evidenced in the study individuals where the dimensions related to the physical area were lower.


Assuntos
Qualidade de Vida , Doença de Depósito de Glicogênio Tipo II , Doenças Raras
5.
Artigo | IMSEAR | ID: sea-223565

RESUMO

Background & objectives: Lysosomal storage disorders (LSDs) are genetic metabolic disorders which result from deficiency of lysosomal enzymes or defects in other lysosomal components. Molecular genetic testing of LSDs is required for diagnostic confirmation when lysosomal enzyme assays are not available or not feasible to perform, and for the identification of the disease causing genetic variants. The aim of this study was to develop a cost-effective, readily customizable and scalable molecular genetic testing strategy for LSDs. Methods: A testing method was designed based on the in-house creation of selective amplicons through long range PCR amplification for targeted capture and enrichment of different LSD genes of interest, followed by next generation sequencing of pooled samples. Results: In the first phase of the study, standardization and validation of the study protocol were done using 28 samples of affected probands and/or carrier parents (group A) with previously identified variants in seven genes, and in the second phase of the study, 30 samples of enzymatically confirmed or biopsy-proven patients with LSDs and/or their carrier parents who had not undergone any prior mutation analysis (group B) were tested and the sequence variants identified in them through the study method were validated by targeted Sanger sequencing. Interpretation & conclusions: This testing approach was found to be reliable, easily customizable and cost-effective for the molecular genetic evaluation of LSDs. The same strategy may be applicable, especially in resource poor settings, for developing cost-effective multigene panel tests for other conditions with genetic heterogeneity.

6.
Artigo | IMSEAR | ID: sea-218104

RESUMO

Background: Due to easy availability and high prevalence of chronic diseases, an increased number of drugs are being prescribed per family. It is important to ensure patients are aware of appropriate storage requirements to prevent negative health and economic consequences. Aim and Objectives: (1) To identify drug storage habits of patients (2) To evaluate the awareness of patients regarding appropriate storage conditions. (3) To identify potential harmful usage patterns of stored drugs in the household. Materials and Methods: This is a survey-based study among 100 patients attending the medicine outpatient department (OPD). A pre-validated questionnaire was given to the participants and response was collected and analyzed. Results: All participants reported storage of medications at home. An average of 3.42 ± 1.8 drugs were stored at home. Future use (50%) was the most common reason for storing medications. Analgesics (35%), cardiovascular medications (35%), and antibiotics were the most common drug groups to be stored. Bedroom cabinets and drawers were the most common storage location. Only 25% of participants were aware that drugs had specific storage requirements. Most participants (85%) could not read or understand the label present on drug formulations. Conclusion: Awareness of appropriate home storage conditions for medications remains low. This presents an opportunity for health-care providers and workers to better communicate storage instructions. Understanding patient behavior in this regard may lead to better health outcomes

7.
Artigo | IMSEAR | ID: sea-221022

RESUMO

OBJECTIVE- To study disposal of different types of biomedical waste and to studythe status of BMW management in different level of hospitalsMETHOD-Medical facilities were divided into 4 groups. 10 facilities from each groupwere selected by simple random sampling. Facilities were visited by surveying groupsand specific data about collection and disposal of waste were collected by askingmanagement personnels of hospitals, doctors and staff.RESULT- 90% of single speciality hospitals and 80% of multispeciality hospitals arefollowing proper storage and segregations of BMW.90% of super speciality hospitalshave transportation facilities.60% of super speciality hospitals , 30% of multispecialityand 20% of single speciality hospitals have incinerators. All super speciality hospitalshave autoclave machines, while 70% of single and 50% of multispeciality hospitalshave that. While only 2 out of 10 clinics have an autoclave machine.60% of both clinicsand Superspeciality hospitals are using land disposal as a method of BMWmanagement. 80% of small clinics and 70% of multispeciality hospitals are having dryand wet thermal management.CONCLUSION- Superspeciality hospitals and Single specialty hospitals are usingcostly methods like incineration and autoclave also following guidelines for storage ,segregation and transportation of BMW properly while amongst all most small clinicscan’t afford costly methods so uses cheaper techniques like chemical treatment and dryand wet thermal methods.

8.
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1551101

RESUMO

Calcium is the third most crucial nutrient for andean blackberry; however, its absorption is limited in acid soils, and its low mobility in the plant decreases its effects on fruits. Therefore, the effect of foliar fertilizers with calcium on andean blackberry fruits was estimated. In three locations, experiments were established with five calcium sources (Ca chelate, CaB nitrate, Ca oxide, CaB and CaBZn gluconate) and a control without calcium, applied in three phenological stages and recording: weight, diameters, firmness, color, juice, pulp, pH, soluble solids, acidity, dehydration, and damage. Soil and tissue analysis was performed to identify the relationship between the plant's nutritional conditions and its fertilization response. For the statistical analysis were used mixed models, tests of means, and principal components. Foliar fertilization with chelate, nitrate, and calcium oxide in andean blackberry crops with thorns, in production, with pruning management, and in the phenological stages of flower bud, fruit set, and red fruit, is a viable alternative to improve firmness, weight, and diameter of the fruits. In contrast, the chemical and color parameters in andean blackberry fruits depend on the edaphoclimatic conditions of each zone. This fertilization should be considered as a complement in soils without acidity problems and with balanced cationic saturations.


El calcio es el tercer nutriente más importante para la mora; sin embargo, su absorción se ve limitada en suelos ácidos y su baja movilidad en planta disminuye su efecto en frutos. Por tanto, se estimó el efecto de fertilizantes foliares con calcio en frutos de mora. En tres localidades, se establecieron experimentos con cinco recursos de Ca (quelato de Ca, nitrato de CaB, óxido de Ca, KCaB y gluconato de CaBZn) y un control sin calcio, aplicados en tres etapas fenológicas y registrándose: peso, diámetros, firmeza, color, jugo, pulpa, pH, sólidos solubles, acidez, deshidratación y daños. Se realizó análisis de suelo y tejido, para identificar la relación entre las condiciones nutricionales de la planta y su respuesta a la fertilización. Para el análisis estadístico, se utilizaron modelos mixtos, pruebas de medias y componentes principales. La fertilización foliar con quelato, nitrato y óxido de calcio en cultivos de mora andina con espinas, en producción, con manejo de podas y en las etapas fenológicas de botón floral, cuajado y fruto rojo, es una alternativa viable para mejorar la firmeza, peso y diámetro de los frutos. En contraste, los parámetros químicos y de color en frutos de mora andina dependen de las condiciones edafoclimáticas propias de cada zona. Esta fertilización, se debe considerar como complemento en suelos sin problemas de acidez y con saturaciones catiónicas equilibradas.

9.
Acta neurol. colomb ; 39(2)jun. 2023.
Artigo em Espanhol | LILACS | ID: biblio-1533490

RESUMO

Introducción: Gracias a la nueva herramienta de tratamiento con la terapia de reemplazo enzimático en la enfermedad de Pompe, se ha reducido la mortalidad a corto plazo. Contenidos: Esta herramienta permite a los pacientes mantener la independencia funcional y la adaptación de las habilidades motrices para su participación en varios aspectos de la vida diaria. Conclusiones: El abordaje de estos pacientes debe ser multidisciplinario, para dar un manejo integral a la condición clínica de cada individuo, y procurar el tratamiento de los sistemas físicos y emocionales que se pueden ver alterados con el curso de la enfermedad: osteomuscular, cardiovascular y respiratorio, deglución, lenguaje, nutrición y psicológico, incluidos los cuidados paliativos y el manejo del dolor.


Introduction: Enzyme replacement therapy in Pompe disease reduces short-term mortality. Contents: This therapy allows patients to maintain functional independence and adaptation of motor skills for patient participation in various aspects of daily life. Conclusions: The approach with this patients should be multidisciplinary to provide comprehensive management of the clinical condition of each individual seeking treatment of the physical and emotional aspects that may be altered in the disease progression: musculoskeletal, cardiovascular, respiratory, swallowing, language, nutritional and psychological; also including palliative care and pain management.


Assuntos
Reabilitação , Doença de Depósito de Glicogênio Tipo II , Desempenho Físico Funcional , Equipe de Assistência ao Paciente , Doença de Depósito de Glicogênio
10.
Acta neurol. colomb ; 39(2)jun. 2023.
Artigo em Espanhol | LILACS | ID: biblio-1533488

RESUMO

Introducción: La enfermedad de Pompe es un trastorno de origen genético causado por la deficiencia de la enzima alfa-glucosidasa ácida, que se caracteriza por el acumulo anormal de glucógeno en los músculos y otros tejidos, generando una debilidad muscular progresiva, la cual debe ser diagnosticada y tratada de forma oportuna, ya que de esto dependerá el pronóstico, la sobrevida y la funcionalidad de los pacientes con esta condición. Contenidos: El abordaje multidisciplinario incluye tanto una adecuada valoración y soporte nutricional como el inicio del tratamiento modificador de enfermedad a través de la terapia de reemplazo enzimático, que a su vez dependerá de la forma de presentación, la variante genética, el perfil inicial del paciente, las condiciones especiales que puedan existir y las metas propias para cada paciente. Para garantizar un manejo adecuado, se deben realizar estudios de seguimiento con parámetros objetivos, evaluar posibles eventos secundarios e instaurar su manejo en caso de presentarlos. Conclusiones: El pronóstico de esta enfermedad dependerá del inicio oportuno del tratamiento, la implementación de pautas nutricionales adecuadas y el establecimiento del seguimiento de los parámetros clínicos y paraclínicos para cada uno de los pacientes.


Introduction: Pompe disease is a disorder of genetic origin caused by the deficiency of the acid alpha-glucosidase enzyme, which is characterized by the abnormal accumulation of glycogen in the muscles and other tissues, generating progressive muscle weakness, which must be diagnosed and treated in a timely manner, since the prognosis, survival, and functionality of patients with this condition will depend on this. Contents: The multidisciplinary approach includes both an adequate evaluation and nutritional support as well as the initiation of disease-modifying treatment through enzyme replacement therapy, which in turn will depend on the form of presentation, the genetic variant, the initial profile of the patient, the special conditions that may exist and the specific goals for each patient. To guarantee adequate management, follow-up studies must be carried out with objective parameters, evaluate possible secondary events and establish their management in case of presenting them. Conclusions: The prognosis of this disease will depend on the timely initiation of treatment, the implementation of adequate nutritional guidelines and the establishment of monitoring of clinical and paraclinical parameters for each of the patients.


Assuntos
Doença de Depósito de Glicogênio Tipo II , Dieta , alfa-Glucosidases , Ciências da Nutrição , Terapia de Reposição de Enzimas
11.
Indian J Pathol Microbiol ; 2023 Mar; 66(1): 91-95
Artigo | IMSEAR | ID: sea-223392

RESUMO

Introduction: Lysosomal storage disorders (LSDs) are rare disorders and pose a diagnostic challenge for clinicians owing to their generalized symptomatology. In this study, we aim to classify LSDs into two broad categories, namely, Gaucher disease (GD) and Niemann–Pick/Niemann–Pick-like diseases (NP/NP-like diseases) based on the morphology of the storage cells in the bone marrow (BM) aspiration smears and trephine biopsy sections. Materials and Method: This retrospective study includes 32 BM specimens morphologically diagnosed as LSDs at our institute, in the last 10 years. Subsequently, they were subclassified into GD and NP/NP-like diseases. Further, we have compared and analyzed the clinical, hematological, and biochemical parameters for the two groups of LSDs. Results: Based on BM morphology, 59.4% (n = 19) cases were diagnosed as NP/NP-like diseases and 40.6% (n = 13) cases as GD. Abdominal distension and failure to thrive were the most common clinical manifestations in both groups of LSDs. Anemia and thrombocytopenia were frequently seen in either of the LSDs. On the assessment of metabolic profile, elevated total/direct bilirubin and liver enzymes were more commonly seen in NP/NP-like diseases when compared with GD. Conclusion: We have classified LSDs into GD and NP/NP-like diseases based on the morphology of the storage cells in the BM specimen. The hallmark findings on BM biopsy annexed with the comparative features of the two proposed categories can aid the clinician in clinching the diagnosis. Formulation of such a methodology will prove instrumental for patient care in an underresourced setting.

12.
Journal of Zhejiang University. Medical sciences ; (6): 230-236, 2023.
Artigo em Inglês | WPRIM | ID: wpr-982039

RESUMO

A 24-year-old male was admitted due to recurrent redness, swelling, fever and pain in the ankle, frequently accompanied by hungry feeling. Dual energy CT scans showed multiple small gouty stones in the posterior edge of the bilateral calcaneus and in the space between the bilateral metatarsophalangeal joints. The laboratory examination results indicated hyperlipidemia, high lactate lipids, and low fasting blood glucose. Histopathology of liver biopsy showed significant glycogen accumulation. The results of gene sequencing revealed the compound heterozygous mutations of the G6PC gene c.248G>A (p.Arg83His) and c.238T>A (p.Phe80Ile) in the proband. The c.248G>A mutation was from mother and the c.238T>A mutation was from father. The diagnosis of glycogen storage disease type Ⅰa was confirmed. After giving a high starch diet and limiting monosaccharide intake, as well as receiving uric acid and blood lipids lowering therapy, the condition of the patient was gradually stabilized. After a one-year follow-up, there were no acute episodes of gout and a significant improvement in hungry feeling in the patient.


Assuntos
Masculino , Humanos , Adulto Jovem , Adulto , Doença de Depósito de Glicogênio Tipo I/genética , Gota/genética , Mutação , Lipídeos
13.
Chinese Journal of Contemporary Pediatrics ; (12): 546-550, 2023.
Artigo em Chinês | WPRIM | ID: wpr-981992

RESUMO

A boy, aged 3 hours, was admitted due to a prenatal diagnosis of fetal hydrops at 3 hours after resuscitation for birth asphyxia. Prenatal examination at 5 months of gestation showed massive ascites in the fetus, and after birth, the boy had the manifestations of systemic hydroderma, massive ascites, coarse face, and hepatomegaly. Genetic testing revealed heterozygous mutations in the SLC17A5 gene, and there was a significant increase in urinary free sialic acid. Placental pathology showed extensive vacuolization in villous stromal cells, Hofbauer cells, cytotrophoblast cells, and syncytiotrophoblast cells in human placental chorionic villi. The boy was finally diagnosed with free sialic acid storage disorders (FSASDs). This is the first case of FSASDs with the initial symptom of fetal hydrops reported in China. The possibility of FSASDs should be considered for cases with non-immune hydrops fetalis, and examinations such as placental pathology and urinary free sialic acid may help with early diagnosis and clinical decision making.


Assuntos
Recém-Nascido , Masculino , Humanos , Feminino , Gravidez , Hidropisia Fetal/genética , Ácido N-Acetilneuramínico , Placenta/patologia , Ascite
14.
Chinese Journal of Contemporary Pediatrics ; (12): 420-424, 2023.
Artigo em Chinês | WPRIM | ID: wpr-981973

RESUMO

Pompe disease, also known as glycogen storage disease type Ⅱ, is a rare autosomal recessive disease. With the application of enzyme replacement therapy, more and more patients with Pompe disease can survive to adulthood, and nervous system-related clinical manifestations gradually emerge. Nervous system involvement seriously affects the quality of life of patients with Pompe disease, and a systematic understanding of the clinical manifestations, imaging features and pathological changes of nervous system injury in Pompe disease is of great significance for the early identification and intervention of Pompe disease. This article reviews the research progress of neurological damage in Pompe disease.


Assuntos
Humanos , Doença de Depósito de Glicogênio Tipo II/tratamento farmacológico , alfa-Glucosidases , Qualidade de Vida , Terapia de Reposição de Enzimas
15.
Organ Transplantation ; (6): 31-2023.
Artigo em Chinês | WPRIM | ID: wpr-959017

RESUMO

Heart transplantation is the primary therapeutic option for patients with end-stage heart failure. The shortage of donors has been the main limiting factor for the increasing quantity of heart transplantation. With persistent updating and introduction of novel technologies, the donor pool has been increasingly expanded, such as using the heart from older donors, donors infected with hepatitis C virus, donors dying from drug overdose or donation after cardiac death (DCD) donors, etc. Meantime, the proportion of recipients with advanced age, multiple organ dysfunction, mechanical circulatory support and human leukocyte antigen antibody sensitization has been significantly increased in recent years. The shortage of donors, complication of recipients' conditions, individualized management of immunosuppressive therapy and prevention and treatment of long-term cardiac allograft vasculopathy are all challenges in the field of heart transplantation. In this article, novel progresses on donor pool expansion, improving the quality of recipients, strengthening the diagnosis and treatment of rejection, and preventing cardiac allograft vasculopathy were reviewed, aiming to prolong the survival and enhance the quality of life of patients with end-stage heart failure on the waiting list or underwent heart transplantation.

16.
Organ Transplantation ; (6): 295-2023.
Artigo em Chinês | WPRIM | ID: wpr-965055

RESUMO

Limb replantation and transplantation is the optimal treatment for traumatic limb amputation. Safe and effective limb preservation is the key factor to determine the success of limb replantation and transplantation. Currently, static cold storage is the gold standard of limb preservation. However, the preservation time is short, which may no longer meet clinical requirements. With rapid development of organ preservation in recent years, novel preservation technologies, such as ultra-low temperature preservation, supercooling preservation and mechanical perfusion preservation, have successively emerged. However, at present, these techniques are primarily applied to the preservation of solid organs rather than composite tissue allografts with blood vessels including limbs. In this article, research status and progress on the application of static cold storage and mechanical perfusion preservation in limb preservation were reviewed, aiming to provide reference for clinical application of limb preservation technology and promote the development of limb replantation and transplantation.

17.
Organ Transplantation ; (6): 201-2023.
Artigo em Chinês | WPRIM | ID: wpr-965042

RESUMO

As an effective treatment for end-stage liver disease, liver transplantation has been widely carried out worldwide and gradually captivated widespread recognition. With the advancement of liver transplantation techniques, the incidence of postoperative complications has been gradually declined, and the short-term and long-term prognosis of recipients have been constantly improved. However, a huge gap has existed between the supply and demand of donor organs, which is a major factors restricting the development of liver transplantation. The amount of liver transplantation operation in China is increasing year by year, the shortage of donor liver is becoming more and more prominent, and marginal donor liver is increasingly used in clinic. In recent years, the selection criteria of donor organs, organ preservation and functional maintenance have been continuously improved. In this article, the application and development trend of different techniques were reviewed from the perspectives of donor liver preservation and functional maintenance, and recent technical development and research results were summarized, aiming to provide reference for further enhancing the survival rate of grafts and recipients and promoting the development of liver transplantation in China.

18.
China Journal of Chinese Materia Medica ; (24): 3693-3700, 2023.
Artigo em Chinês | WPRIM | ID: wpr-981501

RESUMO

The quality of moxa is an important factor affecting moxibustion therapy, and traditionally, 3-year moxa is considered optimal, although scientific data are lacking. This study focused on 1-year and 3-year moxa from Artemisia stolonifera and A. argyi(leaf-to-moxa ratio of 10∶1) as research objects. Scanning electron microscopy(SEM), Van Soest method, and simultaneous thermal analysis were used to investigate the differences in the combustion heat quality of 1-year and 3-year moxa and their influencing factors. The results showed that the combustion of A. stolonifera moxa exhibited a balanced heat release pattern. The 3-year moxa released a concentrated heat of 9 998.84 mJ·mg~(-1)(accounting for 54% of the total heat release) in the temperature range of 140-302 ℃, with a heat production efficiency of 122 mW·mg~(-1). It further released 7 512.51 mJ·mg~(-1)(accounting for 41% of the total heat release) in the temperature range of 302-519 ℃. The combustion of A. argyi moxa showed a rapid heat release pattern. The 3-year moxa released a heat of 16 695.28 mJ·mg~(-1)(accounting for 70% of the total heat release) in the temperature range of 140-311 ℃, with an instantaneous power output of 218 mW·mg~(-1). It further released 5 996.95 mJ·mg~(-1)(accounting for 25% of the total heat release) in the temperature range of 311-483 ℃. Combustion parameters such as-R_p,-R_v, D_i, C, and D_b indicated that the combustion heat quality of 3-year moxa was superior to that of 1-year moxa. It exhibited greater combustion heat, heat production efficiency, flammability, mild and sustained burning, and higher instantaneous combustion efficiency. This study utilized scientific data to demonstrate that A. stolonifera could be used as excellent moxa, and the quality of 3-year moxa surpassed that of 1-year moxa. The research results provide a scientific basis for the in-depth development of A. stolonifera moxa and the improvement of moxa quality standards.


Assuntos
Artemisia , Temperatura Alta , Moxibustão , Folhas de Planta
19.
China Journal of Chinese Materia Medica ; (24): 3149-3155, 2023.
Artigo em Chinês | WPRIM | ID: wpr-981450

RESUMO

This study explored the preservation effect of strigolactone analogs on Gastrodia elata tubers and screened out the suitable preservation measures of G. elata to provide a safer and more effective method for its storage and preservation. Fresh G. elata tubers were treated with 7FGR24, 2,4-D isooctyl ester, and maleic hydrazide, respectively. The growth of flower buds, the activities of CAT, and MDA, and the content of gastrodin and p-hydroxybenzyl alcohol were measured to compare the effects of different compounds on the storage and preservation of G. elata. The effects of different storage temperatures on the preservation of 7FGR24 were compared and analyzed. The gibberellin signal transduction receptor gene GeGID1 was cloned, and the effect of 7FGR24 on the expression level of GeGID1 was analyzed by quantitative polymerase chain reaction(qPCR). The toxicity of the G. elata preservative 7FGR24 was analyzed by intragastric administration in mice to evaluate its safety. The results showed that compared with 2,4-D isooctyl ester and maleic hydrazide, 7FGR24 treatment had a significant inhibitory effect on the growth of G. elata flower buds, and the CAT enzyme activity of G. elata was the highest, indicating that its preservation effect was stronger. Different storage temperatures had different effects on the preservation of G. elata, and the preservation effect was the strongest at 5 ℃. The open reading frame(ORF) of GeGID1 gene was 936 bp in length, and its expression level was significantly down-regulated after 7FGR24 treatment, indicating that 7FGR24 may inhibit the growth of flower buds by inhibiting the gibberellin signal of G. elata, thereby exerting a fresh-keeping effect. Feeding preservative 7FGR24 had no significant effect on the behavior and physiology of mice, indicating that it had no obvious toxicity. This study explored the application of the strigolactone analog 7FGR24 in the storage and preservation of G. elata and preliminarily established a method for the storage and preservation of G. elata, laying a foundation for the molecular mechanism of 7FGR24 in the storage and preservation of G. elata.


Assuntos
Animais , Camundongos , Gastrodia , Giberelinas , Hidrazida Maleica , Ésteres
20.
Organ Transplantation ; (6): 479-2023.
Artigo em Chinês | WPRIM | ID: wpr-978488

RESUMO

High-quality donor heart is the prerequisite and fundamental guarantee for successful heart transplantation. Reasonable donor heart preservation technique plays a key role in improving the quality of donor heart and the prognosis of heart transplantation. Static cold storage (SCS) is currently the standard preservation technique for cardiac allograft. However, it is prone to cause severe cold ischemia injury to the donor heart, and it is impossible to evaluate heart function during SCS. As an important emerging technique of organ preservation, machine perfusion better matches with physiological conditions compared with SCS, which may remove metabolic wastes and provide basic substances for metabolic needs during organ preservation, prolong the preservation time and improve the preservation effect to a certain extent. Besides, it may also effectively evaluate organ function and improve clinical prognosis of heart transplantation. Meantime, it can also repair organ damage, significantly optimize organ quality and improve the utilization rate of donor organs. In this article, research status of machine perfusion of donor heart was reviewed.

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