Effect of gamete aging on fertilization success of the sea urchin Arbacia dufresnii (Arbacioida: Arbaciidae) / Efecto del envejecimiento de los gametos sobre el éxito en la fecundación del erizo de mar Arbacia dufresnii (Arbacioida: Arbaciidae)

Abstract Introduction: Short-term gametes storage is an inexpensive and simple technique that allows the use of the same batch of eggs or sperm at different times, maximizing the application of research protocols and the use of gametes in production. Arbacia dufresnii is a sea urchin species with proven aquaculture potential and already used in the nutraceutical industry. Aging of its gametes is unknown and is a needed information to scale up the production. Objective: Determine the effect of male and female gamete aging on the fertilization success of Arbacia dufresnii. This will allow optimizing the use of gametes after collection decoupling spawning from fertilization. Methods: A. dufresnii individuals were induced to spawn and gametes were kept at 12 ± 1 °C throughout each bioassay. Sperm was separated into two treatments: activated sperm in seawater (AS), and dry sperm (DS). Two bioassays were made: Bioassay 1 evaluated the effect of time on fertility by performing fertilization tests at 0 h, 24 h, 48 h, 72 h, and 96 h after spawning. Bioassay 2 evaluated the contribution of each type of aged gamete on fertility, combining aged gametes (96 h) with fresh gametes (0 h). Results: Bioassay 1: the fertilization success obtained by combining eggs (E) with AS or DS presented important differences. While the fertilization success remained acceptable (greater than 50 %) for up to 72 h using ExDS, it only remained acceptable for up to 48 h using ExAS. Bioassay 2: acceptable fertilization success was found by combining aged E (96 h) with fresh sperm, or aged DS (96 h) with fresh E, but not using aged AS with fresh E. Conclusions: The findings of this work show that fertilization success in A. dufresnii gametes remains relatively unchanged for up to 48 h after spawning when combining ExAS, and for up to 72 h when combining ExDS. However, when combining aged E or aged DS with a fresh gamete, post-collection fertilization can be extended up to 96 h. In this work, the first steps have been taken to understand the conservation time of A. dufresnii gametes with minimum intervention.

Resumen Introducción: El almacenamiento de gametos a corto plazo es una técnica económica y sencilla que permite utilizar el mismo lote de óvulos o espermatozoides en diferentes momentos, maximizando la aplicación de protocolos de investigación y el uso de gametos en la producción. Arbacia dufresnii es una especie con probado potencial acuícola como fuente de gametos para la industria nutracéutica. Sin embargo, se desconoce el envejecimiento de sus gametos y es una información necesaria para escalar la producción. Objetivo: Determinar el efecto del envejecimiento de los gametos masculinos y femeninos en el éxito de la fecundación de Arbacia dufresnii con el fin de optimizar el aprovechamiento de los gametos después de la recolecta desincronizando el desove de la fecundación. Métodos: Se indujo el desove de individuos de A. dufresnii y los gametos se mantuvieron a 12 ± 1 °C durante cada bioensayo. El esperma se separó en dos tratamientos: esperma activado en agua de mar (AS) y esperma seco (DS). Se realizaron dos bioensayos: El Bioensayo 1 evaluó el efecto del tiempo sobre la fertilidad realizando pruebas de fecundación a las 0 h, 24 h, 48 h, 72 h y 96 h después del desove. El bioensayo 2 evaluó la contribución de cada tipo de gameta envejecida (96 h) sobre la fertilidad, combinando gametos envejecidas (96 h) con gametos frescas (0 h). Resultados: Bioensayo 1: el éxito de fecundación obtenido combinando huevos (E) con AS o DS presentó diferencias importantes. Si bien el éxito de la fecundación se mantuvo aceptable (más del 50 %) durante un máximo de 72 h con ExDS, solo permaneció aceptable hasta 48 h con ExAS. Bioensayo 2: se encontró un éxito de fecundación aceptable combinando E envejecidos (96 h) con esperma fresco, o DS envejecido (96 h) con E fresco (0 h), pero no usando AS envejecido con E fresco (0 h). Conclusiones: Los hallazgos de este trabajo muestran que el éxito de la fecundación en los gametos de A. dufresnii permanece relativamente sin cambios hasta 48 h después del desove cuando se combina ExAS, y hasta 72 h cuando se combina ExDS. Sin embargo, cuando se combina E envejecido o DS envejecido con un gameto fresco, el tiempo entre la recolección y la fecundación puede extenderse hasta 96 h. En este trabajo se han dado los primeros pasos para entender el tiempo de conservación de los gametos de A. dufresnii con mínima intervención.

The adoption of ICT and robotic automation systems in the pharmaceutical industry

Background: South African pharmacies face challenges like cost reduction, inventory management, and employee efficiency. Balancing dispensing error rates and customer satisfaction, along with ensuring accurate medication dispensing, is also crucial. An effective solution to these challenges is adopting automatic robotic dispensing systems, which enhance stock inventory management, integrated systems, and accurate dispensing capabilities. Objectives: The study delved into IT and robotic automation in South African pharmaceutical dispensing, assessing current methods and advocating for integrated IT and Automated Storage and Retrieval Systems in retail and hospital pharmacies. Method: The research used a quantitative approach to gather data from public and private hospital pharmacy employees, aiming to understand their requirements and expectations. It assessed the potential improvements that could result from adopting a new system. Results: The study found that most government and private pharmacies in South Africa prefer automated dispensing systems to reduce errors, lower costs, improve customer service, and enhance inventory management. Benefits also included minimising medication errors, improving operational efficiency, and ensuring patient safety. Conclusion: The study holds importance as it underscores the necessity of integrating Information Technology (IT) and Robotic Automation in the pharmaceutical sector to address prevailing issues. It identifies factors contributing to medication dispensing errors and demonstrates the potential of automated robotic systems in mitigating these errors. Contribution: South Africa's pharmaceutical sector must enhance efficiency and competitiveness by adopting integrated IT and Robotic Automation Systems. The study identified key factors for future implementation and emphasized the need for clear pre-implementation policies outlining functions and benefits.

Effects of different storage and transportation devices on the temperatures of “internet plus drug delivery”in hospital under high-temperature conditions in summer / 中国药房

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.

Liver transplantation for inherited metabolic liver diseases / 器官移植

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.

Evaluación de la estabilidad de parámetros hematológicos en muestras pediátricas bajo diferentes condiciones de almacenamiento determinados en un analizador Sysmex XN / Stability of hematological parameters in pediatric samples under different storage conditions using the Sysmex XN analyser / Avaliação de estabilidade de parâmetros hematológicos em amostras pediátricas sob diferentes condições de armazenamento determinados em um analisador Sysmex XN

Resumen Conocer la estabilidad de las muestras biológicas es esencial para obtener resultados confiables en el laboratorio de análisis clínicos. La Norma IRAM-ISO 15189:2023 establece que cada laboratorio debe estandarizar las condiciones de almacenamiento de las muestras. El objetivo de este trabajo fue determinar el tiempo y la temperatura óptimos para conservar muestras sanguíneas para la determinación de parámetros hematológicos en un analizador Sysmex XN 1000. Se procesaron muestras de sangre entera conservadas hasta 48 horas a temperatura ambiente y hasta 72 horas en heladera. De acuerdo a los resultados, para la determinación del hemograma, las muestras almacenadas a temperatura ambiente deben procesarse dentro de las 6-8 horas posextracción; los parámetros limitantes son aquellos influenciados por cambios en el volumen eritrocitario. En las muestras conservadas en heladera el análisis puede retrasarse hasta 48 horas y el recuento de plaquetas es el parámetro menos estable.

Abstract Knowing sample stability is essential to obtain reliable results in the clinical laboratory. The IRAM-ISO 15189:2023 Standard establishes that each laboratory must standardise the storage conditions of biological samples. This study was conducted to investigate the stability of haematological parameters using a Sysmex XN 1000 in samples stored for up to 48-72 hours at different temperatures. According to these results, the hematologic analytes should be processed in this laboratory within 6-8 hours after extraction if they are stored at room temperature. The limiting parameters are those influenced by changes in the erythrocyte volume. If storage is in a refrigerator, the analysis can be delayed up to 48 hours, being platelet count the limiting parameter.

Resumo Conhecer a estabilidade das amostras biológicas é essencial para obter resultados confiáveis no laboratório de exames clínicas. A Norma IRAM-ISO 15189:2023 estabelece que cada laboratório deve padronizar as condições de armazenamento das amostras. O objetivo deste trabalho foi determinar o tempo e a temperatura ideais para preservar amostras de sangue para a determinação de parâmetros hematológicos em um analisador em um Sysmex XN 1000. Para isso, foram processadas amostras de sangue total armazenadas por até 48 horas em temperatura ambiente e por até 72 horas em geladeira. De acordo com os resultados obtidos, para a determinação do hemograma, as amostras armazenadas em temperatura ambiente devem ser processadas dentro de 6-8 horas após a extração, sendo os parâmetros limitantes aqueles influenciados por alterações no volume eritrocitário. Nas amostras armazenadas em geladeira, a análise pode demorar até 48 horas, sendo a contagem de plaquetas o parâmetro menos estável.

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.

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.

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

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.

Clinical Profile Among Brazilian Mucopolysaccharidosis type II Patients: Subgroup Analysis from the Hunter Outcome Survey

Abstract Mucopolysaccharidosis type II (MPS II) is a rare genetic, multiorgan disease. Little information about the Brazilian context is available to date; thus, this descriptive subgroup analysis was conducted on Brazilian data from the Hunter Outcome Survey (HOS), including clinical characteristics among MPS II patients from Brazil. HOS is a global, multi-center, long-term, observational registry of patients with MPS II (NCT03292887). Variables related to organ system involvement, signs and symptoms, surgical procedures and survival among Brazilian patients were extracted from HOS database. Data from 153 Brazilian patients with MPS II were analyzed. Musculoskeletal (96.6%), abdomen/gastrointestinal (95.2%), neurological (88.7%), pulmonary (86.2%), and ear (81.3%) were the most frequently observed organ/systems involved. Regarding signs and symptoms, the most prevalent symptom was coarse facial features consistent with the disease (94.6%), followed by joint stiffness and limited function (89.3%), hernia (84.2%) and hepatomegaly (82.2%). Median survival time was 22.0 years, and the major cause of death was respiratory failure (31.8%). These data may be helpful to understand disease characteristics and to help improve the quality of MPS II patient care in Brazil.

Factores de riesgo asociados al almacenamiento excesivo de medicamentos en una zona urbana de méxico

Objetivo: Describir los factores de riesgo vinculados al almacenamiento excesivo de medicamentos en hogares urbanos de una región en México. Material y Método: Utilizando una encuesta virtual, se recopilaron datos sociodemográficos de los miembros del hogar y detalles sobre los medicamentos almacenados. Los datos se analizaron mediante medidas de tendencia central, dispersión y pruebas de Odds Ratio y Chi cuadrado para analizar asociaciones significativas entre variables. Resultados: De un total de 300 hogares encuestados, el 20% tenían niños menores de cinco años, el 25,3% tenían adultos mayores y el 78,5% disponían de seguridad social. Además, se observó una mayor prevalencia de analgésicos (99%), antiinflamatorios (92%) y antipiréticos (89%) en comparación con otros grupos de medicamentos. La mayoría de las familias optaba por contenedores de plástico para almacenar los fármacos. El 51% informó poseer medicamentos caducados en sus hogares, pese a que todos los encuestados hayan afirmado seguir buenas prácticas en relación con el almacenamiento. Conclusión: Se determina que los adultos mayores, la seguridad social y la presencia de enfermedades crónicas son factores de riesgo significativos para el almacenamiento excesivo, siendo la acumulación de medicamentos caducados, una consecuencia de tal fenómeno.

Objective: To describe the risk factors associated with excessive medication storage in urban households in a region of Mexico. Materials and Methods: A virtual survey was used to collect sociodemographic data of household members and details concerning stored medications. Data were analyzed using measures of central tendency, dispersion, and odds Ratio and Chi-square tests to explore significant associations between variables. Results: Of the 300 surveyed households, 20% had children under the age of five, 25.3% had elderly adults, and 78.5% had social security coverage. In addition, a higher prevalence of analgesics (99%), anti-inflammatories (92%), and antipyretics (89%) was observed compared to other medication categories. Plastic containers were the preferred choice of most families for storing medication. 51% percent reported having expired medications at home, despite all respondents claiming to adhere to proper storage practices. Conclusion: It was determined that elderly people, social security coverage, and the presence of chronic illnesses are significant risk factors for excessive storage, with the accumulation of expired medications being a consequence of this phenomenon.

Objetivo: Descrever os fatores de risco associados ao armazenamento excessivo de medicamentos em domicílios urbanos de uma região do México. Material e Método: Utilizando uma pesquisa virtual, foram coletados dados sociodemográficos dos membros da família e detalhes sobre os medicamentos armazenados. Os dados foram analisados por meio de medidas de tendência central, dispersão e testes de Odds Ratio e Qui-quadrado para explorar associações significativas entre variáveis. Resultados: De um total de 300 domicílios pesquisados, 20% tinham crianças menores de cinco anos, 25,3% tinham adultos idosos e 78,5% possuíam cobertura de seguridade social. Além disso, foi observada uma maior prevalência de analgésicos (99%), anti-inflamatórios (92%) e antipiréticos (89%) em comparação com outras categorias de medicamentos. A maioria das famílias preferia recipientes de plástico para o armazenamento dos medicamentos. 51% relataram possuir medicamentos vencidos em casa, apesar de todos os entrevistados afirmarem aderir às práticas adequadas de armazenamento. Conclusão: Estabelece-se que adultos idosos, cobertura de seguridade social e a presença de doenças crônicas são fatores de risco significativos para o armazenamento excessivo, sendo o acúmulo de medicamentos vencidos uma consequência desse fenômeno.

Desarrollo y validación de una tarea experimental de Memoria Episódica verbal en español / Development and validation of an experimental verbal Episodic Memory task in Spanish

RESUMEN Propósito Elaborar y validar una tarea experimental de memoria episódica verbal en español. Método Se elaboraron seis bloques de codificación: tres profundos y tres superficiales, cado uno con distintas demandas de esfuerzo cognitivo. Los bloques fueron revisados por cuatro jueces expertos y examinados en una aplicación piloto. Se evaluó la concordancia respecto a si la tarea permitía manipular combinadamente el nivel de procesamiento y el esfuerzo cognitivo durante la codificación incidental de palabras, así como la claridad de las instrucciones, ejemplos y dinámica de trabajo. Resultados Variables como la disponibilidad léxica, metría y fuerza de asociación fueron útiles para diferenciar el esfuerzo cognitivo entre cada bloque. Los jueces concordaron que los bloques de procesamiento admiten una manipulación combinada del nivel de procesamiento y esfuerzo cognitivo y que las instrucciones son precisas. Luego del pilotaje, los participantes concordaron que las instrucciones, ejemplos y forma de trabajo eran fácil de comprender y realizar. Conclusión Los resultados proporcionan evidencia de validez relacionada con el contenido para la tarea experimental propuesta, transformándose con ello en una alternativa viable de considerar en investigaciones orientadas a identificar factores ambientales que contribuyan a compensar los defectos que muestra la memoria episódica con la edad.

ABSTRACT Purpose To develop and validate an experimental verbal episodic memory task in Spanish. Methods Six encoding blocks were elaborated, three deep and three superficial, each one with different demands of cognitive effort. The blocks were reviewed by four expert judges and tested in a pilot application. The agreement was assessed on whether the task allowed combined processing level and cognitive effort to be manipulated during incidental encoding of words, as well as clarity of instructions, examples, and workflow. Results Variables such as lexical availability, metrics, and strength of association were useful to differentiate the cognitive effort between each block. The judges agreed that the processing blocks allowed a combined manipulation of the level of processing and cognitive effort and that the instructions are precise. After the pilot, the participants agreed that the instructions, examples, and way of working were easy to understand and perform. Conclusion The results provide evidence of validity related to the content for the proposed experimental task, thus becoming a viable alternative to consider in research aimed at identifying environmental factors that contribute to compensating the defects shown by episodic memory with age.

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.

Development status and new challenges of heart transplantation / 器官移植

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.

Free sialic acid storage disorders with fetal hydrops in a neonate / 中国当代儿科杂志

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.