Reserve mobilization and secondary metabolites during seed germination and seedling establishment of the tree Erythrina velutina (Fabaceae) / Movilización de reservas y metabolitos secundarios durante la germinación de semillas y el establecimiento de plántulas del árbol Erythrina velutina (Fabaceae)

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.

Calidad de vida en pacientes con enfermedad de Pompe: estudio observacional / Quality of Life in Patients with Pompe Disease: Cross-Sectional Study

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.

Long-range PCR amplification-based targeted enrichment & next generation sequencing: A cost-effective testing strategy for lysosomal storage disorders

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.

STUDY OF BIOMEDICAL WASTE MANAGEMENT IN DIFFERENT TYPES OF MEDICAL FACILITIES

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.

A questionnaire-based study evaluating medication storage habits of patients attending outpatient department of a tertiary care teaching hospital

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

Calcium foliar fertilization and its effect on quality and shelf life in andean blackberry fruits (Rubus glaucus Benth.)

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.

Rehabilitación en la enfermedad de Pompe / Pompe disease rehabilitation management

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.

Tratamiento de la enfermedad de Pompe / Treatment of Pompe Disease

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.

Utility of morphologic assessment of bone marrow biopsy in diagnosis of lysosomal storage disorders

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.

Hurler Syndrome: a Biochemically Confirmed Case in Dominican Republic

Abstract Mucopolysaccharidosis (MPS) is a group of metabolic disorders caused by the deficiency or complete absence of certain lysosomal enzymes responsible for the breakdown of mucopolysaccharides, causing an accumulation of glycosaminoglycans (GAGs) throughout the body. Mucopolysaccharidosis type I (MPS I), also called Hurler syndrome, is an autosomal recessive lysosomal storage disorder resulting from a deficiency of the enzyme α-L-iduronidase. This report aims to present the clinical findings and diagnosis of a 21-month-old female with no history of similar cases in their previous generations. The diagnosis was considered based on the clinical and radiological characteristics of Hurler syndrome (HS) and confirmed biochemically, becoming the first confirmed case in the Dominican Republic.

Research status of additives related to platelet preservation / 中国输血杂志

Platelets play an important role in hemostasis, inflammation, tumor metastasis, wound healing and defense response, but its routine storage requires a specific temperature and the storage time is generally limited to 5 ~7 d, at the same time, platelet storage damage and bacterial breeding will limit its storage time. In addition, routine transfusion can cause serious adverse reactions such as non-hemolytic fever, allergies, circulatory overload, and transfusion-related acute lung injury. These limit the clinical application of platelet products. However, additives associated with platelet preservation can reduce the likelihood of their occurrence. Therefore, this article reviews the research status of additives related to platelet preservation in recent years, as well as improving platelet storage damage and improving platelet preservation characteristics.

Effects of different storage conditions on the content of key growth factors in platelet-rich plasma / 中国输血杂志

【Objective】 To study the effects of different storage temperature and different storage time on the activity of key growth factors in platelet-rich plasma(PRP), and to provide a theoretical basis for maximize the role of PRP in clinical treatment. 【Methods】 PRP was collected by blood cell isolation and apheresis, stored at 22℃ and -80℃, respectively. VEGF, TGF-β and PDGF were detected by ELISA. The content of growth factors in PRP was detected when stored at 22℃for 1, 3 and 5 days, and the growth factors content of PRP stored at 22℃ for 3 days was detected after thrombin activation for 0.5, 1 and 1.5 hours. The content of growth factor in frozen PRP (stored at -80℃ for 30 days after initial 3-days storage at 22℃ ) and fresh PRP (stored at 22℃ for 3 days) was compared. The growth factor content in PRP frozen at - 80℃ for 30, 60 and 180 days, and the growth factor content in PRP frozen at -80℃ for 180 days after repeated freeze-thaw for 1, 2, 3, 5 and 10 times were detected. 【Results】 The growth factor content of apheresis PRP was significantly higher than that of platelet-poor plasma. No statistical difference was noticed in VEGF, TGF-β and PDGF content in PRP at 1, 3 and 5 days stored at 22℃; no statistical difference was noticed in VEGF, TGF-β and PDGF content in PRP stored at 22℃ for 3 days after thrombin activation for 0.5, 1 and 1.5 hours. There was no statistically significant difference in growth factor content between PRP stored at 22℃ for 3 days versus frozen at -80℃ for 30 days after initial 3-days storage at 22℃. No statistical difference was found in VEGF, TGF-β and PDGF contents in frozen PRP repeatedly frozen and thawed for 1 to 10 times. 【Conclusion】 Apheresis PRP can release a large amount of growth factors after activation. Fresh PRP stored at 22℃ for 5 days or frozen at -80℃ for 180 days has no impact on the content of growth factors, and frozen PRP at -80℃ can achieve long-term, effective and safe preservation, which is conducive to multiple use of PRP in treatment.

Exploration of the relationship between the storage time of leukodepleted red blood cell and transfusion adverse reactions / 中国输血杂志

【Objective】 To explore the relationship between the storage time of leukodepleted red blood cells and transfusion adverse reactions by analyzing the occurrence of transfusion adverse reactions of patients after leukodepleted red blood cells transfusion from four hospitals. 【Methods】 By using the electronic medical record management system, the collection and transfusion dates of leukodepleted red blood cells from four hospitals in Enshi Prefecture from 2018 to 2022, as well as the information on transfusion adverse reactions, were retrieved. 【Results】 From 2018 to 2022, a total of 697 61 bags of leukodepleted red blood cells were transfused in four hospitals, resulting in 166 cases of transfusion adverse reactions, among which 93 were allergic reactions, 63 were non hemolytic febrile reactions, and 10 were others, with a total incidence rate of transfusion adverse reactions at 0.24%. The average storage time of leukodepleted red blood cells with and without transfusion adverse reactions was (20.25±6.31) and (19.88±5.50) days, respectively. With a storage time of 7 days as the threshold, the incidence of transfusion adverse reactions was the lowest for a storage time of 15~21 days. The incidence of transfusion adverse reactions of leukodepleted red blood cells in two groups (with storage days ≤21 days and >21 days) was not statistically significant(P>0.05). 【Conclusion】 Allergic reactions were the main type of transfusion adverse reaction caused by leukodepleted red blood cells, and the incidence of transfusion adverse reactions decreased and then increased with the prolongation of the storage time of leukodepleted red blood cells. There was no significant difference in the incidence of transfusion adverse reactions with leukodepleted red blood cells stored for ≤ 21 days and >21 days.

Complement content in plasma under different storage conditions / 中国输血杂志

【Objective】 To investigate the changes in complement content in component blood before blood transfusion. 【Methods】 180 samples from 20 plasma donors were collected at different stages of the preparation process, stored at different temperatures and time periods, and tested in the same batch to observe the changes in complement C3 and C4 levels under different storage temperatures and process stages. 【Results】 The same sample was used to test C3 and C4 levels, and the test results were sorted into nine groups for comparison according to different storage temperatures and preparation process stages. C3: 0.994 1; C4: 0.957 1, with no significant difference in storage at -40℃ and -60℃(P>0.05); C3: 0.133 3, 0.224 06(P>0.05); C4: 0.027 3, 0.025 1(P<0.05), storing at 4℃ for 7 days may significantly reduce complement levels, which needs further verification; C3: 0.047 0, 0.038 3; C4: 0.042 6, 0.012 1(P<0.05), virus inactivation preparation process can significantly reduce complement levels, repeated freeze-thawing during frozen plasma processing can change complement levels. The correlation analysis of C3 and C4 content determination experiment shows that they are significantly positively correlated under different storage temperature, preparation process and storage time(P<0.05). 【Conclusion】 Storage temperature, storage time, preparation process of frozen plasma such as repeated freeze-thawing, centrifugal concentration and light inactivation have an impact on complement content.

Effect of hypothermic machine perfusion on expression levels of inflammatory cytokines in rat kidney / 器官移植

Objective To evaluate the effect of hypothermic machine perfusion (HMP) on the expression levels of inflammatory cytokines in rat kidney. Methods Thirty male rats were randomly divided into the control (Control group), static cold storage group (SCS group) and HMP group, with 10 rats in each group. The velocity, intrarenal resistance and pH value of perfusion effluent were recorded during HMP. The expression levels of CXC chemokine ligand (CXCL)1, CXCL2, interferon (IFN)-β1, IFN-α4, CC chemokine ligand (CCL)2, CCL20, interleukin (IL)-17α, IL-17C and tumor necrosis factor (TNF)-α messenger RNA (mRNA) in renal tissues were evaluated by reverse transcription polymerase chain reaction (RT-PCR). Pathological changes of the kidney were observed by hematoxylin-eosin (HE) staining. Results During HMP, the velocity and intrarenal resistance remained stable, and the pH value of perfusion effluent was decreased slowly. RT-PCR showed that the relative expression levels of CXCL1, CXCL2, CCL2, CCL20, IL-17α, IL-17C and TNF-α mRNA in the SCS and HMP groups were higher compared with those in the Control group. Compared with the SCS group, the relative expression levels of CXCL1, CXCL2, CCL2, CCL20, IL-17α and TNF-α mRNA were up-regulated in the HMP group (all P<0.05). HE staining revealed that the morphology of renal cells was normal in the Control group, whereas evident epithelial necrosis, cytoplasmic vacuolation, brush border loss and epithelial shedding were observed in the SCS group. Compared with the SCS group, pathological changes in the HMP group were alleviated. Conclusions HMP may activate renal inflammation, and inhibiting the activation of inflammation during HMP is expected to further improve the effect of allograft preservation.

The cases of twins with sialidosis type 1 / 中华神经科杂志

Sialidosis is a rare lysosomal storage disease caused by NEU1 gene mutation at 6p21.33. It is characterized by myoclonic, ataxia, epilepsy, and decreased vision. A pair of twins with sialidosis type 1 are reported to enrich clinicians ′ understanding of the disease, so as to improve the diagnosis and treatment. The proband was a 16-year-old male. The main symptom was intermittent limb involuntary trembling for 2 years, with paroxysmal loss of consciousness. Fundus examination showed cherry-red spots. His twin brother had similar symptoms, but the overall performance was mild. Whole exome sequencing results showed that both patients carried compound heterozygous mutations of c.239C>T (p.P80L) and c.803A>G (p.Y268C) in NEU1 gene, which were from their normal phenotype mother and father.

Research status and progress on limb preservation technology / 器官移植

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.

Liver graft preservation and functional maintenance accelerate the development of liver transplantation / 器官移植

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.

Research status of machine perfusion of heart / 器官移植

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.

Mitochondrial transplantation as a promising therapy for mitochondrial diseases

Mitochondrial diseases are a group of inherited or acquired metabolic disorders caused by mitochondrial dysfunction which may affect almost all the organs in the body and present at any age. However, no satisfactory therapeutic strategies have been available for mitochondrial diseases so far. Mitochondrial transplantation is a burgeoning approach for treatment of mitochondrial diseases by recovery of dysfunctional mitochondria in defective cells using isolated functional mitochondria. Many models of mitochondrial transplantation in cells, animals, and patients have proved effective via various routes of mitochondrial delivery. This review presents different techniques used in mitochondrial isolation and delivery, mechanisms of mitochondrial internalization and consequences of mitochondrial transplantation, along with challenges for clinical application. Despite some unknowns and challenges, mitochondrial transplantation would provide an innovative approach for mitochondrial medicine.