Abstract Objectives: To screen the COL1A1 and COL1A2 gene mutation sites in a family with type I osteogenesis imperfecta (OI)/hearing loss and analyze the characteristics and recovery of hearing loss in patients with osteogenesis imperfecta. Methods: The basic clinical data of Ol proband and her parents were collected, and the COL1A1 and COL1A2 genes were detected in peripheral blood by PCR amplification and generation Sanger sequencing. Literature of stapedial surgery in patients with osteogenesis imperfecta was collected. Results: The heterozygous mutation of the 26 exon c.1922_1923 ins C in the Ol progenitor COL1A1 gene led to the amino acid frameshift mutation of p.Pro 601FS, which was not detected in the phenotypic parents. The homozygous of exon 28 c.1782>G in COL1A2 was detected in the proband and her parents, resulting in changes in the protein p.Pro 549Ala. Conclusion: The clinical symptoms of the Ol proband is caused by heterozygous mutation of the 26 exon c.1922_1923 ins C in COL1A1 gene. Stapedial surgery can provide short-term and long-term hearing benefits for Ol patients with hearing loss. Level of evidence: Level 4.

Abstract Background and objectives: to investigate the association between the dietary nutrient intake and nutritional status of patients with Crohn's disease (CD). Methods: sixty CD patients who had been diagnosed but had not begun treatment were enrolled. The dietary nutrient intake was recorded after three days of 24-hour recall and was calculated using NCCW2006 software. The nutrition levels were assessed using the Patient-Generated Subjective Global Assessment (PG-SGA). Indicators included body mass index (BMI), mid-arm circumference, the circumference of the upper-arm muscle, triceps skinfold thickness, handgrip strength, and the circumference of both calves. Results: eighty-five per cent of CD patients did not meet the necessary energy requirements. Of these, the protein and dietary fiber intake in 63.33 % and 100 %, respectively, were below the standard of the Chinese dietary reference. Many patients had insufficient intake of vitamins, as well as other macro- and micronutrients. An inverse association was observed between the risk of malnutrition and higher levels of energy (1,590.0-2,070.6 kcal/d, OR = 0.050, 95 % CI: 0.009-0.279) and protein (55.6-70.5 g/d, OR = 0.150, 95 % CI: 0.029-0.773). Appropriate supplementation of vitamin E, calcium, and other dietary nutrients helped to reduce the risk of malnutrition. Conclusions: significant deficiencies in dietary nutrient intake were found in CD patients, and dietary intake was associated with the nutritional status of the patient. Appropriate adjustment and supplementation of nutrient intake may reduce malnutrition risk in CD patients. The gap between actual consumption and recommendation indicates a need for improved nutritional counseling and monitoring. Early relevant advice for the dietary guidance of CD patients may be beneficial for long-term effects associated with nutritional status.

Resumen Antecedentes y objetivos: investigar la asociación entre la ingesta de nutrientes y el estado nutricional de los pacientes con enfermedad de Crohn (EC). Métodos: se reclutaron 60 pacientes de EC que habían sido diagnosticados, pero no habían iniciado ningún tratamiento. La ingesta de nutrientes se registró tras 3 días de recordatorio de 24 horas y se calculó utilizando el software NCCW2006. El estado nutricional se evaluó mediante la valoración global subjetiva generada por el paciente (PG-SGA). Los indicadores incluyeron el índice de masa corporal, la circunferencia media del brazo, la circunferencia del músculo de la parte superior del brazo, el grosor del pliegue cutáneo del tríceps, la fuerza de agarre y la circunferencia de la pantorrilla. Resultados: el 85 % de los pacientes de EC no cubrieron las necesidades energéticas necesarias. De estos, las ingestas de proteína y fibra dietética en el 63,33 % y el 100 %, respectivamente, era más baja que lo que recominenda la norma de referencia dietética china. Muchos pacientes tuvieron una ingesta insuficiente de vitaminas, así como de otros macronutrientes y micronutrientes. Se observó una asociación inversa entre el riesgo de desnutrición y niveles más altos de energía (1590,0-2070,6 kcal/d, OR = 0,050, IC 95 % = 0,009-0,279) y proteínas (55,6-70,5 g/d, OR = 0,150, IC 95 % = 0,029-0,773). La suplementación adecuada de vitamina E, calcio y otros nutrientes dietéticos ayudó a reducir el riesgo de desnutrición. Conclusiones: se observaron deficiencias significativas en la ingesta de nutrientes en los pacientes con EC, y la ingesta dietética se asoció con el estado nutricional del paciente. El ajuste y la suplementación adecuados de la ingesta de nutrientes pueden reducir el riesgo de malnutrición de los pacientes con EC. La diferencia entre el consumo real y la recomendación indica la necesidad de mejorar el asesoramiento y el seguimiento nutricional. El consejo temprano pertinente para la orientación dietética de los pacientes con EC puede ser beneficioso para los efectos a largo plazo asociados al estado nutricional.

Abstract In this study, the effects of degradation on ascorbic acid (AA) in asparagus-lemon juice with different blending ratios were investigated during storage. The R2 values of the first-order kinetic model for predicting AA loss were 0.8216-0.9990, indicating that the model described well the degradation of AA in asparagus-lemon juice with different blending ratios. Response surface methodology (RSM) was applied to optimize the blending ratio of asparagus-lemon juice during storage. The optimum blending ratios that selected by the RSM were: 23%, 26%, 27%, 28% and 29% of diluted asparagus juice blended with 85% of diluted lemon juice, and the desirability were 0.820. The RSM correlation coefficients (R2) between experimental and model predicted values ranged from 0.6394 to 0.9975. Therefore, RSM and the first-order model may be effective tools to optimize the blending ratio of blended juice and AA degradation in juices.

RESUMO Objetivo: Investigar o efeito antiproliferativo de poli (lactídeo-coglicolídeo) com superfície modificada carregada com carboplatina contra células de retinoblastoma. Métodos: Preparou-se poli (lactídeo-co-glicolídeo) carregado com carboplatina com ou sem alginato de sódio para modifição da superfície, poli com alginato de sódio (lactídeo-co-glicolídeo) e poli (lactídeo-co-glicolídeo). O potencial zeta e o comportamento de liberação de carboplatina foram investigados. A captação celular do fármaco liberado foi observada na linha celular de retinoblastoma Y79. O efeito inibitório das nanopartículas carregadas com carboplatina contra a linha celular Y79 foi avaliado através do ensaio de metiltiazol tetrazólio e Western-blot. Carboplatina nativa e nanopartículas vazias sem carga de carboplatina serviram como controles. Resultados: O potencial zeta de poli carregado com carboplatina (lactídeo-co-glicolídeo) foi - (26,1 ± 3,1) mV versus - (43,1 ± 8,1) mV em poli com alginato de sódio carregado com carboplatina (lactídeo-co-glicolídeo). A percentagem de libertação de explosão de poli carregado com carboplatina (lactídeo-co-glicolídeo) e poli com alginato de sódio (lactídeo-co-glicolídeo) foram (40,0 ± 8,2)% e (18,9 ± 4,3)% às 24 horas, respectivamente. Uma diferença significativa foi identificada em relação à liberação de fármaco entre poli com alginato de sódio carregado com carboplatina (lactídeo-co-glicolídeo) e poli carregado com carboplatina (lactídeo-co-glicolídeo). A detecção de fluorescência revelou que a carboplatina foi assimilada intensamente no citoplasma da linha celular Y79 que foi exposta ao poli com alginato de sódio carregado com carboplatina (lactídeo-co-glicolídeo). A exposição de poli carregada com carboplatina (lactídeo-co-glicolídeo) ou poli com alginato de sódio (lactídeo-co-glicolídeo) inibiu a expressão de antígeno nuclear de proliferação celular em células Y79 no 3º dia. A extensão da exposição no 5º dia revelou que poli com alginato de sódio (lactídeo-co-glicolídeo) para modificação da superfície foi superior a poli (lactídeo-co-glicolídeo) em termos de inibição do antígeno nuclear de proliferação celular. O teste de viabilidade celular via metiltiazol tetrazólio mostrou um efeito inibitório semelhante. Além disso, as nanopartículas carregadas com carboplatina de concentração mais baixa inibiram a viabilidade celular mais fortemente em comparação com a carboplatina nativa de concentração mais alta no ensaio de metiltiazol tetrazólio. Conclusões: Poli com alginato de sódio carregado com carboplatina (lactídeo-co-glicolídeo) inibiu a proliferação de células de retinoblastoma com efeito superior em contraste com poli (lactídeo-co-glicolídeo) e carboplatina nativa. O alginato de sódio para modificação da superfície oferece uma estratégia potencial para o sistema de liberação de carboplatina sustentada.

ABSTRACT Purpose: To investigate the antiproliferative effect of carboplatin-loaded surface-modified poly(lactide-co-glycolide) on retinoblastoma cells. Methods: Carboplatin-loaded poly(lactide-co-glycolide) with or without sodium alginate surface modification was prepared using sodium alginate-poly(lactide-co-glycolide) and poly(lactide-co-glycolide). The zeta potential and carboplatin release behavior were investigated. The cellular uptake of the released drug was observed in the retinoblastoma cell line Y79. The inhibitory effect of carboplatin-loaded nanoparticles against the Y79 cell line was evaluated using methyl thiazolyl tetrazolium assay and western blot. Native carboplatin and void nanoparticles without carboplatin loading were used as controls. Results: The zeta potential was -(26.1 ± 3.1) mV for carboplatin-loaded poly(lactide-co-glycolide) and-(43.1 ± 8.1) mV for carboplatin-loaded sodium alginate-poly(lactide-co-glycolide). The burst release percentages of carboplatin-loaded poly(lactide-co-glycolide) and sodium alginate-poly(lactide-co-glycolide) were (40.0% ± 8.2%) and (18.9% ± 4.3%) at 24 hours, respectively. A significant difference was identified regarding drug release between carboplatin-loaded sodium alginate-poly(lactide-co-glycolide) and carboplatin-loaded poly(lactide-co-glycolide). Fluorescence detection revealed that intense uptake of carboplatin into the cytoplasm of the Y79 cell line that was exposed to carboplatin-loaded sodium alginate-poly(lactide-co-glycolide). Carboplatin-loaded poly(lactide-co-glycolide) or sodium alginate-poly(lactide-co-glycolide) exposure inhibited proliferating cell nuclear antigen expression in Y79 cells on day 3. Extension of exposure to day 5 revealed that the sodium alginate-poly(lactide-co-glycolide) surface modification was superior to that of poly(lactide-co-glycolide) in terms of proliferating cell nuclear antigen inhibition. The cell viability test using methyl thiazolyl tetrazolium revealed a similar inhibitory effect. Furthermore, the carboplatin-loaded nanoparticles of lower concentration inhibited cell viability more strongly than native carboplatin of higher concentration in methyl thiazolyl tetrazolium assay. Conclusions: Carboplatin-loaded sodium alginate-poly(lactide-co-glycolide) inhibited retinoblastoma cell proliferation with superior effect as compared with poly(lactide-co-glycolide) and native carboplatin. Sodium alginate surface modification offers a potential strategy for the sustained carboplatin release system.