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Chylomicron Retention Disease: a Description of a New Mutation in a Very Rare Disease
Ferreira, Helena,Ramos, Raquel Nunez,Quan, Cinthia Flores,Ferreiro, Susana Redecillas,Ruiz, Vanessa Cabello,Goni, Javi Juamperez,Bernabeu, Jesus Quintero,Canton, Oscar Segarra,Beltran, Marina Alvarez The Korean Society of Pediatric Gastroenterology 2018 Pediatric gastroenterology, hepatology & nutrition Vol.21 No.2
Chylomicron retention disease, also known as Anderson's disease, is a rare hereditary hypocholesterolemic disorder, recessive inherited, characterized by nonspecific symptoms as abdominal distension, steatorrhea, and vomiting associated with failure to thrive. We describe a patient with failure to thrive, chronic diarrhea and steatorrhea who the diagnosis of chylomicron retention disease was established after several months of disease progression. The genetic study confirmed a homozygosity mutation in SAR1B gene, identifying a mutation never previous described [c.83_84delTG(p.Leu28Argfs*7)]. With this case report the authors aim to highlight for this very rare cause of failure to thrive and for the importance of an attempting diagnosis, in order to start adequate management with low fat diet supplemented with fat-soluble vitamins, reverting the state of malnutrition and avoiding possible irreversible and desvantating complications.
Chylomicron Retention Disease: a Description of a New Mutation in a Very Rare Disease
Helena Ferreira,Raquel Nuñez Ramos,Cinthia Flores Quan,Susana Redecillas Ferreiro,Vanessa Cabello Ruiz,Javi Juampérez Goñi,Jesus Quintero Bernabeu,Oscar Segarra Cantón,Marina Álvarez Beltran 대한소아소화기영양학회 2018 Pediatric gastroenterology, hepatology & nutrition Vol.21 No.2
Chylomicron retention disease, also known as Anderson’s disease, is a rare hereditary hypocholesterolemic dis-order, recessive inherited, characterized by nonspecific symptoms as abdominal distension, steatorrhea, and vomit-ing associated with failure to thrive. We describe a patient with failure to thrive, chronic diarrhea and steatorrhea who the diagnosis of chylomicron retention disease was established after several months of disease progression. The genetic study confirmed a homozygosity mutation in SAR1B gene, identifying a mutation never previous de-scribed [c.83_84delTG(p.Leu28Argfs*7)]. With this case report the authors aim to highlight for this very rare cause of failure to thrive and for the importance of an attempting diagnosis, in order to start adequate management with low fat diet supplemented with fat-soluble vitamins, reverting the state of malnutrition and avoiding possible irrever-sible and desvantating complications.
Pectin Solubility and Water Relations during Vase Life of Cut Flowers
Maria Helena Teixeira Gomes,Susana Maria Pinto de Carvalho,Domingos Paulo Ferreira de Almeida 한국원예학회 2010 Horticulture, Environment, and Biotechnology Vol.51 No.4
Pectic polymers are major components of primary cell walls having a high water-binding ability. Pectin levels and solubility were quantified in stems and petals of rose (Rosa hybrida L.), chrysanthemum (Chrysanthemum morifolium Ramat.), carnation (Dianthus caryophyllus L.), and snapdragon (Anthirrhinum majus L.) and related to the rate of solution uptake and to the rate of fresh weight increase during the vase life of these cut flowers. Total pectins in stems ranged from 176 ㎍ㆍ㎎?¹ in chrysanthemum to 203 ㎍ㆍ㎎?¹ in carnation. Water soluble pectin accounted for only 1.9 to 3.6% of total stem pectins, in rose and snapdragon, respectively, whereas chelator-soluble pectins ranged from 3.8% of total in chrysanthemum to 10.1% in snapdragon. Petals of each species had a higher proportion of water- and chelator-soluble pectins than stems. Water uptake rate during vase life was 0.16 gㆍg?¹ㆍday?¹ for carnation, 0.35 gㆍg?¹ㆍday?¹ for chrysanthemum, 0.52 gㆍg?¹ㆍday?¹ for rose, and 0.62 gㆍg?¹ㆍday?¹ for snapdragon. In the absence of salts, maximum fresh weight increase in relation to the initial value varied from 15% in carnation to 33% in chrysanthemum. Addition of KCl or CaCl₂ to the vase solution depressed the uptake rate but prolonged the period of increasing fresh weight and delayed the fresh weight decline. Significant positive linear relationships were found between the solubility of stem pectins and the rate of fresh weight increase in the four cut flowers and between the solution uptake rate and the amount of CDTA-soluble pectins present in the petals. These results provide correlative evidence for a role of pectins in the water relations of cut flowers.