Indução oral rápida de tolerância a alopurinol: um relato de caso / Rapid induction of oral tolerance to allopurinol: a case report

O alopurinol, de uso contínuo oral, é o tratamento de escolha para os distúrbios hereditários do glicogênio. Apesar de não ser comum, a reação de hipersensibilidade ao alopurinol se torna um problema quando esta é a única medicação disponível para o controle da doença de base. Nestes casos, a dessensibilização é uma alternativa viável. No presente relato, descrevemos o caso de um paciente com diagnóstico de doença de depósito de glicogênio tipo I, com exantema pruriginoso generalizado ao alopurinol, tratado com um protocolo de dessensibilização oral acelerado. Este tratamento permitiu o uso contínuo deste medicamento sem novas reações em longo prazo.

Continuous oral allopurinol use is the first-line treatment for hereditary glycogen disorders. While hypersensitivity reactions to allopurinol are uncommon, they can pose challenges when this medication is the only available option for the long-term treatment of the underlying disorder. In such cases, desensitization emerges as a viable alternative. We report the case of a patient with glycogen storage disease type I who developed a generalized pruritic rash due to allopurinol. Drug intolerance was successfully managed using a rapid oral desensitization protocol, which allowed an uneventful long-term use of allopurinol.

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.

Current status of research on the diagnosis and specific treatment of glycogen storage disease type Ⅱ / 中华实用儿科临床杂志

Glycogen storage disease type Ⅱ (GSDⅡ) is a rare autosomal recessive disorder.Infant onset of GSDⅡ usually accompanies progressive cardiac hypertrophy and muscle weakness, and eventually dies of cardiopulmonary failure.GSDⅡ is mainly screened and diagnosed by enzymatic and genetic tests.Enzyme replacement therapy (ERT) is the only currently approved treatment of GSDⅡ, which can effectively improve the function of the affected organs and the survival.Gene therapy and substrate reduction therapy for GSDⅡ are also undergoing basic or clinical research.This review summarizes the current research status of the diagnosis and treatment of GSDⅡ at home and abroad, focusing on the influencing factors for the efficacy of specific treatment (especially ERT), dosing regimen, and ways to improve the efficacy.

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.

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.

Application effect analysis of a horizontal endoscope storage cabinet in storage of flexible endoscopes / 中国内镜杂志

Objective To explore the influence of different storage methods on flexible endoscope.Methods 500 compliant soft endoscopes in the endoscopy center of our hospital from January 2019 to January 2020 were selected as research objects.The endoscopes of the observation group were placed horizontally in the storage cabinet,while those of the control group were placed vertically in the storage cabinet.The effects of the two storage methods on bacterial colony number,quality qualified rate and quality of soft endoscopes were compared.Results The study found that the number of bacterial colonies in the flexible endoscope in the 2 h storage of the observation group was(10.27±2.22)cfu/piece and the control group was(13.18±1.33)cfu/piece,and the difference was not statistically significant(P>0.05);The number of bacterial colonies in the flexible endoscope in the 72 h of the observation group was(14.75±2.00)cfu/piece,and the control group was(223.28±17.07)cfu/piece,and the difference was statistically significant(P<0.05).The observed cost of consumables and labor were obliviously lower than those of the control group,there was statistical significance(P<0.05).Conclusion The flexible endoscope is placed horizontally in the designated storage cabinet,which can eliminate the daily morning pre-cleaning within 72 h,and will not increase the damage rate of endoscope.It is a clinically recommended storage method for endoscopes.

Enlightenment from the revision of Standard for Blood Storage / 中国输血杂志

The recently officially approved and released health industry standard Standard for Blood Storage(WS 399-2023) by the National Health Commission is the latest revised version of Standard for Blood Storage(WS 399-2012), which mainly stipulates the storage requirements for whole blood, red blood cells, platelets, granulocytes, plasma and irradiated blood. It applies to blood collection and supply institutions and healthcare institutions, and is the guideline for the safe use of blood.

Influence of storage temperature and storage time on the optically stimulated luminescence characteristics of chip resistors in dose reconstruction for nuclear accident / 中国辐射卫生

Objective To assess the feasibility of employing chip resistors for retrospective dose reconstruction following nuclear accidents, to examine the effects of storage temperature and storage time on the optically stimulated luminescence (OSL) characteristics of the chip resistors, and to explore measures to mitigate these effects. Methods Chip resistors were analyzed using automated instruments for measuring thermoluminescence and OSL manufactured by Risø in Denmark with various parameters to understand the impact of storage temperature and storage time on OSL signals. Results The OSL signals of chip resistors exhibited exponential attenuation within 10 min after irradiation, and then stabilized (count change < 10%) within 2-7 days of storage. The chip resistors exhibited linear dose responses within 1-3 days of storage after 0.1-2 Gy irradiation. OSL signals diminished as the storage temperature increased. However, preheating at 130 ℃ for 1 min effectively eliminated the differences caused by temperatures between 25 ℃ and 45 ℃. Conclusion The OSL signals of chip resistors are influenced by storage temperature and storage time. When preheated at 130 ℃ for 1 min, chip resistors stored for 1-7 days and at 25-45 ℃ exhibited OSL signal errors of 10% or less. This result emphasizes the importance of preheating for measurements in practical applications, thus providing a scientific approach and a solid foundation for the use of chip resistors in retrospective dose reconstruction.

Quality analysis of fresh frozen plasma prepared by the improved ultra-low temperature storage box / 中国输血杂志

【Objective】 To observe and analyze the influence of the improved ultra-low temperature storage box on the quality of fresh frozen plasma (FFP). 【Methods】 A total of 80 qualified whole blood samples (400 mL, O type not included) collected from July to November in 2023 were selected, and were divided into 4 groups, with 20 samples in each group. Group A: quick-frozen in a traditional low temperature box for 1 hour and then stored in a -30℃ cold storage; Group B: quick-frozen in the flat freezer for 1 hour and then stored in a -30℃ cold storage; Group C: quick-frozen in a newly improved ultra-low temperature storage box for 1 hour and stored in a -30℃ cold storage; Group D: quick-frozen in a new improved ultra-low temperature storage box for 12 hours and stored in a -30℃ cold storage. The contents of FⅧ and fibrinogen (Fg) in four groups were detected. 【Results】 The contents of FⅧ in group B, C and D were significantly higher than those in group A, with statistical difference (P0.05), and no statistical difference in the contents of Fg was found among the four groups(P>0.05). 【Conclusion】 The improved ultra-low temperature storage box is superior to the traditional low temperature box in preparing FFP, and there is no obvious difference between the improved ultra-low temperature storage box and the flat-plate quick freezer. However, the improved ultra-low temperature storage box can make the process of preparing FFP more flexible and improve the efficiency of component preparation.

In vitro quality evaluation of leucocyte-reduced pooled platelet concentrates prepared from whole blood stored at 4℃ / 中国输血杂志

【Objective】 To investigate the feasibility of leucocyte-reduced pooled platelet concentrates from whole blood stored at 4℃, and provide theoretical basis for the components preparation. 【Methods】 The collected 400 mL ACD-B anticoagulant whole blood was randomly divided into two groups, stored at 4℃ and room temperature. The buffy coat was prepared within 6 hours and store at 22℃ until next day to prepare leucocyte-reduced pooled platelet concentrates. Platelet samples on day 1, 3, 5 and 7 were taken for the blood cell count and related parameter detection. The pH, glucose and lactic acid content were determined to reflect the metabolic status, and the thromboelastography, platelet aggregation rate and PAC-1 and CD62P expression were determined to reflect the function and activation of platelets. The difference in platelets between two groups were analyzed. 【Results】 With the extension of storage time, the count of leucocyte-reduced pooled platelet concentrates decreased gradually, but the platelets distribution width (PDW), mean platelet volume (MPV) and platelet-larger cell ratio (P-LCR) increased gradually in two groups, with no statistical significance (P>0.05).The pH and glucose contents in two groups gradually decreased, but the lactic acid content gradually increased, with no significant difference (P>0.05). The thrombelastogram showed MA value that reflecting platelet function has no significant change during the storage, and there was no significant difference between the two groups (P>0.05). The aggregation rates decreased while the expression of PAC-1 and CD62P increased gradually with the prolongation of preservation time, with no significant difference between the two groups (P>0.05). 【Conclusion】 There is no significant difference in platelet count, function and activation between whole blood stored at 4℃ and at room temperature within 6 hours. Whole blood stored at 4℃ within 6 hours can be considered as the raw material for leucocyte-reduced pooled platelet concentrates.

Effect of MAP on preservation quality of deglycerolized red blood cells / 中国输血杂志

【Objective】 To observe the effect of deglycerolized red blood cells suspended in MAP on preservation and explore the most effective preservation method. 【Methods】 Concentrated red blood cells were prepared by centrifuging 400 mL of whole blood on the third day after collection. 40% compound glycerol solution was added using the ACP 215 automatic blood cell analyzer, and the resulting mixture was stored in an ultra-low temperature refrigerator at -65℃ for 30 days. After thawing and washing, it was equally separated into two bags. The control group received 0.9% sodium chloride solution, while the experimental group received MAP. Both groups were stored at 2-6℃. Hematological parameters, hemolysis indexes and cell metabolism indexes were measured on day 0, 1, 3, 5, 7 and 14 after storage. The quality changes of both groups were observed during the 14-day storage period. 【Results】 The quality of red blood cells in both groups was assessed through a panel of quality tests, including volume, hemoglobin content, free hemoglobin content, white blood cell residue, glycerin residue and sterility. These results met the Quality Requirements outlined in the "Quality Requirements of Whole Blood and Component Blood" (GB18469-2012), Hematocrit, red blood cell count, Hb recovery rate after washing and MCV meet the detection limit outlined in the "Expert Consensus on Quality Evaluation Indicators for Frozen Red Blood Cells", and the residual amount of platelets exceeds the detection limit(≤1%). There were no significant differences in RBC, Hct, MCV and hemoglobin between the two groups during the 14 day storage period. The level of free hemoglobin, hemolysis rate and K+ value increased in both groups over time. Significant differences in free hemoglobin were found on day 3, 5, 7 and 14 between the two groups(P<0.05). Hemolysis rate was significantly different on days 3, 5, 7 and 14, while K+ value was significantly different only on day 14(P<0.05). On day 14, the osmotic fragility of red blood cells was higher in the control group than in the experimental group(P<0.05); The ATP and pH values of both groups decreased as storage time increased, and significant differences in ATP and pH value were found on day 3, 5, 7 and on day 1, 3, 5, 7 and 14, respectively(P<0.05). 【Conclusion】 Deglycerolized red blood cells suspended in MAP additive solution can extend the storage period of blood to 7 days. This study provides a reference for the formulation of relevant standards.

Effect of storage temperature and time on coagulation factor after cryoprecipitated antihemophilic factor melting / 中国输血杂志

【Objective】 To study and compare the effects of different storage temperature and time on coagulation factor after cryoprecipitated antihemophilic factor(CAF) melting, and to provide reference for the establishment of industry standards. 【Methods】 From June 2021 to May 2023, a total of 96 bags of CAF were sampled in 4 bags per month, and timely detected in the same month. After the CAF was melted in a 37℃ water bath, the mild to moderate lipemic blood was labeled. Each bag of CAF and two 50 mL transfer bags were divided into two bags and two groups of 20 mL each using a sterile adapter. One group was placed in a 4℃ refrigerator and the other in a 22℃ water bath for 0 h, 4 h, 8 h, 12 h, 24 h and 48 h. Then 2 mL of aseptic sample was taken separately and put into the test tube, and 1mL of sample and 3 mL of buffer were added into the other test tube with the sampling gun and mixed on the machine for testing. The experimental data of 60 bags without mild to moderate lipemic blood cryoprecipitation and coagulation factor were randomly selected and statistically analyzed by SPSS21.0. 【Results】 After melting, CAF was stored for 0 h, 4 h, 8 h, 12 h, 24 h and 48 h to detect the average content and growth rate of coagulation factor in the two groups: 1) Storage at 4℃, factor Ⅷ content was 118.62, 111.57(-5.95%), 105.51(-11.05%), 103.30(-12.92%), 94.35(-20.46%) and 83.25(-29.82%) IU/ bag, respectively; Storage at 22℃, the factor Ⅷ content was 118.62, 112.69(-5.00%), 111.41(-6.08%), 109.01(-8.10%), 101.55(-14.39%) and 92.75(-21.81%) IU/ bag, and the storage results of the two groups were compared. At 24 h at 4℃ and 48 h at 22℃, the content of factor Ⅷ had significant statistical significance(P0.05). 【Conclusion】 After CAF melting, coagulation factor decreased with the extension of storage time, especially the decrease of factor Ⅷ, followed by factor V, while Fbg basically unchanged. Comparison between the two groups showed that, factor Ⅷ decay rate is slower, factor V decay rate is faster of storage at 22℃. CAF should be transfused as soon as possible after melting. If the delay is unavoidable, for the delay time less than 12 h, storage at 4℃ is recommended, fot the delay time more than 12 h and less than 24 h, storage at 22℃ is recommended.

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.

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.

Análise do estoque domiciliar de medicamentos de usuários da Estratégia Saúde da Família, em Rondonópolis - MT, Brasil / Analysis of the home medication stock of users of the Family Health Strategy in Rondonópolis - MT, Brazil

É comum o armazenamento de medicamentos pelas famílias brasileiras, seja por uso contínuo, por sobras de um tratamento, pelo abandono ou para a automedicação. Dessa maneira o presente estudo objetiva analisar o estoque domiciliar de medicamentos da população adstrita na Estratégia Saúde da Família (ESF) de Rondonópolis-MT de fevereiro a junho de 2022, visando analisar as condições de armazenamento, realizar o levantamento de todos os fármacos dos domicílios em suas diferentes formas farmacêuticas e identificar o perfil de uso dos medicamentos conforme suas indicações terapêuticas. Trata-se de um estudo transversal, de caráter exploratório, e de base descritiva. Foi aplicado um questionário por domicílio durante visita domiciliar. Sobre a amostra estudada, 83,9% (n=281) dos entrevistados era do sexo feminino, faixa etária com predomínio de pessoas acima de 40 anos, com um nível de escolaridade baixo e renda familiar mais baixa. Dos participantes da pesquisa, 97,6% possuíam farmácia caseira. Esses medicamentos eram armazenados principalmente na cozinha, no quarto e na sala. As classes terapêuticas mais numerosas foram: analgésicos (14,2%), AINEs (8,9%) e anti-hipertensivos (7,7%). A quantidade de medicamentos armazenados foi significativamente maior entre praticantes de automedicação e participantes sem conhecimento adequado sobre o uso dos medicamentos, revelando a necessidade do farmacêutico como promotor de ações de educação em saúde sobre uso racional de medicamentos.

It is common for Brazilian families to store medications, whether for continuous use, leftover from treatment, due to abandonment, or for self-medication. Thus, this study aimed to analyze the home drug storage of the population attached to the Family Health Strategy (FHS) in Rondonópolis-MT from February to June 2022, to assess storage conditions, conduct a survey of all pharmaceuticals in the households in their different pharmaceutical forms, and identify the medication use profile according to their therapeutic indications. This was a cross-sectional, exploratory, descriptive-based study. A questionnaire was administered to each household during home visits. Regarding the study sample, 83.9% (n=281) of the respondents were female, predominantly over 40 years old, with a low level of education and lower family income. Of the participants, 97.6% had home pharmacies. These medications were primarily stored in kitchens, bedrooms, and living rooms. The most numerous therapeutic classes were analgesics (14.2%), NSAIDs (8.9%), and antihypertensive drugs (7.7%). The quantity of stored medications was significantly higher among those practicing self-medication and participants with inadequate knowledge about medication use, revealing the need for pharmacists as promoters of health education actions on rational drug use.

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.

Impacto da implantação do inventário rotativo diário na acurácia do estoque de medicamentos em um hospital público de médio porte / Impact of the implementation of the daily rotating inventory on the accuracy of the medicines stock in a medium-sized public hospital

Objetivo: Avaliar o impacto da implantação do inventário rotativo diário na acurácia do estoque de medicamentos em um hospital público de médio porte. Metodologia: Trata-se de um estudo descritivo exploratório transversal que avaliou a implantação de um inventário rotativo de janeiro a julho de 2022. Foram selecionados 143 medicamentos que posteriormente foram inventariados, uma vez por mês, ao longo de sete meses. Esses medicamentos foram classificados segundo a curva ABC, XYZ e o grau de divergência em: baixo, médio e alto. Foi calculada a acurácia para cada grupo, ao longo dos meses analisados, e o Percentual de Mudança Relativa (PMR) para comparação entre o período inicial e final. Resultado: Houveum aumento de 64% na acurácia do estoque de medicamentos, sendo observada diferença entre os grupos ABC e XYZ. Em relação a curva ABC, o grupo A teve um aumento de 170%, o B de 358% e o C de 23% no mesmo período. Em relação a criticidade, o grupo Z foi o que teve maior acurácia, seguido dos grupos Y e X. Os medicamentos classificados como de alta taxa de divergência tiveram redução de 80% e o de baixa 25% após implantação do inventário. Conclusão: A implantação do inventário rotativo aumentou a acurácia do estoque de medicamentos ao longo dos meses avaliados. Essa ferramenta pode ser uma estratégia utilizada na melhoria do gerenciamento de estoque de medicamentos. (AU)

Objective: To evaluate the impact of implementing a daily rotating inventory on the accuracy of medicines stocks in a medium-sized public hospital. Methodology: This is a cross-sectional exploratory descriptive study that evaluated the implementation of a rotating inventory from January to July 2022. 143 medicines were selected and subsequently inventoried once a month over seven months. These medicines were classified according to the ABC, XYZ curve and the degree of divergence in low, medium and high. Accuracy was calculated for each group, over the analyzed months, and the Relative Percentage Change (RPC) for comparison between the initial and final period. Result: There was a 64% increase in the accuracy of medicines inventory, with a difference being observed between the ABC and XYZ groups. Regarding the ABC curve, group A had an increase of 170%, group B 358% and group C 23% in the same period. Regarding criticality, group Z had the highest accuracy, followed by groups Y and X. Medicines classified as having a high rate of divergence had a reduction of 80% and the low rate of 25% after implementation of the inventory. Conclusion: The implementation of the rotating inventory increased the accuracy of the medicines stock over the evaluated months. This tool can be a strategy used to improve medicine inventory management. (AU)

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.