A family study of autosomal recessive primary familial brain calcification caused by JAM2 gene mutation and literature review / 中华神经科杂志

Objective:To improve the clinician′s recognition of the clinical and molecular characteristics of primary familial brain calcification (PFBC).Methods:The detailed clinical information, imaging and molecular characteristics were analyzed in proband and family members of a genetically confirmed autosomal recessive PFBC family. The clinical and imaging features of junctional adhesion molecule 2 (JAM2) gene related PFBC were analyzed in combination with the literature review.Results:The proband was a 32-year-old man, with slurred speech and paroxysmal limb twitch as the first symptoms, accompanied by cognitive dysfunction, and rigidity in the limbs, with epilepsy in the past. Brain CT showed extensive, symmetrical, and bilateral calcification involving the cerebellum, basal ganglia, thalamus, subcortex and cortex. Other family members showed no related clinical symptoms. Brain CT of the parents of the proband showed no calcification. Gene testing of the proband revealed a homozygous c.685C>T(p.R229*) mutation in JAM2 gene, which has been reported as a pathogenic variation abroad, whereas has not been reported in China. The proband′s parents and children were found with heterozygous c.685C>T (p.R229*) mutation.Conclusions:Autosomal recessive inherited PFBC is a rare disease, and JAM2 mutation is a newly discovered pathogenic gene of PFBC in 2020. Patients with intracranial calcification should be alert of JAM2 gene mutation.

Avaliação microbiológica de geleias caseiras comercializadas às margens da br 364 no estado de Rondônia / Microbiological evaluation of homemade jams marketed on the BR 364 in the state of Rondonia

A geleia é uma alternativa para o aproveitamento de frutas, tendo em vista a diversidade e a quantidade produzida no Brasil. Objetivou-se através desta pesquisa avaliar as condições microbiológicas de geleias caseiras comercializadas em estabelecimentos localizados às margens da BR 364 no estado de Rondônia. Os micro-organismos pesquisados foram coliformes totais, Staphylococcus coagulase positiva, bolores e leveduras. Foram avaliadas 20 amostras de geleias e verificou-se que todas estavam de acordo com o padrão microbiológico estabelecido pela legislação RDC n° 12, de 02 de Janeiro de 2001, por apresentarem índice de contaminação fúngica com valores aceitáveis. Embora os resultados estejam de acordo com a legislação brasileira vigente, deve- -se levar em consideração que a presença de fungos, em longo prazo, implica em proliferação dos mesmos e, consequentemente, a deterioração das geleias, além de possível produção de micotoxinas durante seu armazenamento.

Dynamic expression of AQP4 in early stageof ischemia/reperfusion rats and cerebral edema / 中国药理学通报

Aim To make a research of rats with focal cerebral ischemia/reperfusion injury on pathological changes in brain and the changes of AQP4 and related proteins, in order to explore the relationship between AQP4 and brain edema. Methods Adult male SD rats, weighting 250~300 g, were randomly divided in-to Sham group and cerebral ischemia/reperfusion ( I/R) injury model group. The I/R model group was di-vided into the I/R-6 h, 12 h, 24 h, 48 h-four time point groups. The animal model of the right MCA is-chemia/reperfusion was established by suture method in mature SD rats. The nerve symptom score was con-ducted in the corresponding time points. Then, the permeability of brain tissue was detected by EB stai-ning;TTC staining was conducted to observe the cere-bral infarction volume;the dry wet weight method was used to detect the changes of brain water content; im-munohistochemical( IHC) , WB and RT-PCR were ap-plied to detect the expression of AQP4 , and the related factors at different time points of the model rats after is-chemia-reperfusion around infarcts. Results Com-pared with the Sham group, then ever function score of the rats in I/R model groups were much higher. With the increase of the reperfusion time, the cerebral in-farction volume, brain tissue permeability and the brain water content were also increased. IHC results showed that AQP4 expression gradually rose with widen distribution. WB and RT-PCR results verified the in-creasing level of AQP4 expression. The detection of the related proteins expression showed apparent changes. The expression of MMP-9 was increased, while the Oc-cludin and JAM-1 expression showed a decreasing trend. The I/R-48 h model group showed the most ob-vious differences in the expression of the related pro-teins and mRNA ( P <0. 01 vs Sham, respectively ) . Conclusion Accompanied with the aggravating cere-bral injury after cerebral ischemia/reperfusion, the ex-pression of AQP4 and MMP-9 level were activated, while the degradation of TJPs, Occludin and JAM-1, was increased. These factors are combined to make the formation of brain edema. This study makes a further research on the formation mechanism of the early stage for cerebral edema on I/R model and offers a potential for intervention in the filed of looking for a reliable drug therapy on cerebral edema.

Persistent Direction-Fixed Nystagmus Following Canalith Repositioning Maneuver for Horizontal Canal BPPV: A Case of Canalith Jam

The authors report a 64-year-old man who developed persistent direction fixed nystagmus after a canalith repositioning maneuver for horizontal canal benign paroxysmal positional vertigo (HC-BPPV). The patient was initially diagnosed with right HC-BPPV given that the Dix-Hallpike test showed geotropic horizontal nystagmus that was more pronounced on the right side, although the roll test did not show any positional nystagmus. The patient was treated with a canalith repositioning maneuver (Lempert maneuver). The next day, the patient experienced a different character of dizziness, and left-beating spontaneous nystagmus regardless of head position was observed. After a forced prolonged left decubitus and frequent head shaking, his symptoms and nystagmus resolved. This condition, referred to as canalith jam, can be a complication after the repositioning maneuver in patients with BPPV. Atypical positional tests suggest that abnormal canal anatomy could be the underlying cause of canalith jam.

Effect of ginkgolide B on junctional proteins in oxidized LDL-stimulated human umbilical vein endothelial cells / 中国药理学通报

Aim To investigate the effect of ginkgolide B on junctional proteins in ox-LDL-stimulated human umbilical vein endothelial cells ( HUVECs) . Methods After incubation with ginkgolide B ( 0 . 2 ,0 . 4 ,0 . 6 g · L-1 ) for 1 h, HUVECs were treated with ox-LDL (0. 1 g·L-1 ) for 4 h. The expressions of JAM-A and Cx43 were analyzed with Western blot and immunofluo-rescence. The effect of ginkgolide B on vascular per-meability was analyzed by Transwell experiments. Re-sults JAM-A and Cx43 expressions increased by 22%and 24% in ox-LDL-treated HUVECs, respectively. Whereas ginkgolide B significantly decreased JAM-A and Cx43 expressions. LY294002, a specific inhibitor of PI3K, suppressed JAM-A and Cx43 expressions in ox-LDL-stimulated cells. Ginkgolide B potently re-duced monocyte migration in ox-LDL-treated cells. Conclusion Ginkgolide B significantly suppresses JAM-A and Cx43 expressions, and reduces monocyte migration in ox-LDL-stimulated cells. This demon-strates that ginkgolide B can improve vascular permea-bility. The mechanism might be associated with the in-hibition of PI3K/Akt signaling pathway.

Desarrollo de jalea de yacón de reducido valor calórico: caracterización físico-química, microbiológica y sensorial / Development of a low calorie yacon jam: physico chemical, microbiological and sensory characterization

This study aimed to evaluate the physical-chemical, microbiological and sensory characteristics of four formulations of yacon jams. The following characteristics were analyzed: chemical composition, soluble solids, pH, microbiological presence of total coliforms and salmonella at 45 °C, and presence of fungi and yeasts. The yacon jams exhibited high moisture content (> 62%) as well as high concentrations of carbohydrates (> 28%) and total dietary fiber (2.5%), mainly fructooligosaccharides (> 0.9%). The average energy value was 124.6 kcal/100 g. The average pH was 3.8 and the soluble solids measured 27.6 °Brix. All yacon jams complied with standard microbiological requirements and received high acceptance scores, especially the yacon jam and yacon jam with cinnamon. Yacon jam products may offer an excellent alternative to more common jams due to their lower concentrations of simple sugar, lower calorie value, increased presence of dietary fibers, and desirable sensory characteristics.

Este estudio tuvo como objetivo evaluar las características físico-químicas, microbiológicas y sensoriales de cuatro formulaciones de mermeladas de yacón. Las características analizadas fueron: composición química, contenido de sólidos solubles, pH, presencia microbiológica de coliformes totales, coliformes y salmonella a 45 °C, y la presencia de hongos y levaduras. Los atascos de yacón mostraron alto contenido de humedad (> 62%), así como altas concentraciones de hidratos de carbono (> 28%) y fibra dietética total (2, 5%), principalmente fructooligosacáridos (> 0, 9%). El valor energético promedio fue de 124, 6 kcal/100g. El pH promedio fue de 3, 8 y los sólidos solubles mide 27, 6 ° Brix. Todas las mermeladas de yacón cumplido con los requisitos microbiológicos estándar y recibió altos puntajes de aceptación, en especial la mermelada de yacón y mermelada de yacón con canela. Productos de mermelada de yacón pueden ofrecer una excelente alternativa a los atascos más comunes debido a sus concentraciones más bajas de azúcar simple, un valor más bajo de calorías, el aumento de la presencia de fibras dietéticas y las características sensoriales deseadas.

Elaboração de barra de cereais com casca de abacaxi

As barras de cereais são produtos multicomponentes constituído de cereais, frutas secas e xarope ligante, podendo-se adicionar as partes consumíveis de frutas e vegetais que usualmente não são aproveitadas e que possuem um alto valor nutritivo, diminuindo assim o desperdício de alimentos. Foi elaborada uma geléia a base de cascas de abacaxi, que foi utilizada em 13,5% na formulação de uma barra de cereal. A barra desenvolvida foi avaliada sensorialmente e teve sua composição centesimal e mineral determinada. O novo produto obteve média de impressão global de 8,3 em uma escala hedônica de nove pontos, 91% de índice de aceitabilidade e 67% de intenção de compra. Neste primeiro uso da geléia de casca de abacaxi como ingrediente alimentar, pode-se concluir que a sua incorporação na formulação de barra de cereais é viável, gerando produto aceito, com fibras, proteínas e minerais, podendo ser uma alternativa às barras de cereais tradicionais.

Development of cereal bar with pineapple skin.

The cereal bars are multi-component products consisting of cereals, dried fruit and syrup binder and may be added to the consumable parts of fruits and vegetables which usually are not exploited and have high nutritional value, thereby reducing food waste. It was developed a jam with pineapple skin, which it was utilized in 13.5% in the cereal bar formulation. The cereal bar was sensorial evaluated and had its centesimal and mineral composition determined. The new product achieved average of 8.3 for global impression using 9 points hedonic scale, 91% of acceptance rate and 67% of purchase intent. In this first use of pineapple skin jam as food ingredient it can be concluded that its aggregation in the cereal bar formula is feasible, making an accepted product with fibers, proteins and minerals, as an alternative to traditional cereal bars.

Avaliação química de geléias de manga formuladas com diferentes níveis de cascas em substituição à polpa / Chemical evaluation of mango (Mangifera indica L) jams formulated with different levels of peels in substitution to pulp

Objetivou-se, neste estudo, avaliar a qualidade de geléias formuladas com níveis de 0 por cento, 25 por cento, 50 por cento, 75 por cento e 100 por cento de cascas em substituição à polpa de manga (Mangifera indica L. cv. Haden). Os critérios de qualidade utilizados foram os teores de umidade, cinzas, proteínas, lipídios, carboidratos totais, açúcares totais, açúcares redutores, sacarose, vitamina C, fibra insolúvel, pectina, acidez titulável e sólidos solúveis nas polpas e cascas das mangas e nos diferentes tratamentos. Observou-se que nos tratamentos com substituição da polpa por cascas encontraram-se teores significativamente maiores de proteínas, fibras insolúveis e sacarose e menores valores calóricos, acidez titulável, carboidratos totais e açúcares totais em relação ao controle. Os tratamentos foram semelhantes em relação ao teor de vitamina C e sólidos solúveis. Com a elevação dos níveis de cascas em substituição à polpa observou-se aumento do teor de cinzas, fibras insolúveis e sacarose e redução dos açúcares redutores. Concluiu-se que a substituição parcial ou total de polpa por cascas de manga na formulação melhora o valor nutricional e funcional das geléias apesar da diminuição do valor calórico, com benefícios econômicos e ambientais.

The aim of this study was to evaluate the quality of jams formulated with peel levels of 0 percent, 25 percent, 50 percent, 75 percent and 100 percent in substitution to mango pulp (Mangifera indica L. cv. Haden). The quality criteria were moisture, ashes, proteins, fat, total carbohydrate, total sugars, reducing sugars, sucrose, vitamin C, insoluble fiber, pectin, titrable fruit acidity, soluble solids contents and pH in the mango pulp, mango peels and different treatments. It was observed that in the treatments with substitution of pulp by peels, the contents of proteins, insoluble fiber and sucrose were significantly higher than the control. The caloric values, titrable fruit acidity, total carbohydrate and total sugars were lower than the control. There was no significant difference among the treatments regarding vitamin C and soluble solids contents. With the increase of levels of peels in substitution to pulp it was observed an increase in ashes, insoluble fiber and sucrose and decrease in reducing sugar contents. As a conclusion, the partial or total substitution of pulp by mango peels in the formulation improved the nutritional and functional values of the jams, in addition of a decrease in the caloric value, with economic and environmental advantages.