Clinical and Molecular Study of the Extracellular Matrix Protein 1 Gene in a Spanish Family with Lipoid Proteinosis

Rufino Mondejar,Jose Manuel Garcia-Moreno,Rocio Rubio,Francisca Solano,Mercedes Delgado,Begona Garcia-Bravo,Juan Jose Rios-Martin,Amalia Martinez-Mir,Miguel Lucas 대한신경과학회 2014 Journal of Clinical Neurology Vol.10 No.1

Background Lipoid proteinosis (LP) is a rare autosomal recessive disorder characterized bya hoarse voice, variable scarring, and infiltration of the skin and mucosa. This disease is associated with mutations of the gene encoding extracellular matrix protein 1 (ECM1). Case Report This was a clinical and molecular study of a new case of LP with a severe phenotype. A 35-year-old female born to nonconsanguineous parents developed dermatologicaland extracutaneous symptoms in her 9th month of life. The neurological abnormalities of thedisease began to appear at the age of 19 years. Computed tomography revealed cranial calcifications. Conclusions The diagnosis of LP was confirmed by histopathological findings and direct sequencing of ECM1. A new homozygous nonsense mutation was identified in exon 7 of ECM1, c.1076G>A (p.Trp359*). This mutation was not detected in 106 chromosomes of healthy individuals with a similar demographic origin. Microsatellite markers around ECM1 were used to construct the haplotype in both the parents and the patient. Reports on genotype-phenotype correlations in LP point to a milder phenotype in carriers of missense mutations in the Ecm1a isoform, whereas mutations in the Ecm1b isoform are thought to be associated with more severe phenotypes. The present findings in a Spanish patient carrying a truncating mutation in exon 7 revealed complete dermatological and neurological manifestations.

Tropical Fruits Antioxidant Activity Measurement

Maria do Socorro Moura Rufino,Caroline de Goes Sampaio,Edy Sousa de Brito,Ricardo Elesbao Alves 한국원예학회 2006 한국원예학회 기타간행물 Vol.- No.-

Analysis of CCM1 expression uncovers novel minor-form exons and variable splicing patterns

Miguel Lucas,Rufino Mondejar,Mercedes Delgado,Francisca Solano,Guillermo Izquierdo,Amalia Martinez-Mir 한국유전학회 2016 Genes & Genomics Vol.38 No.9

Cerebral cavernous malformations (CCM) are vascular lesions, which occur sporadically or following an autosomal dominant inheritance pattern with variable expression and incomplete penetrance. Three genes have been associated with the disease (CCM1, CCM2 and CCM3). CCM1 has been reported to express atypical transcripts in addition to alternative splicing of non-coding exons. Here, we report the identification of novel alternative splicing events in the CCM1 gene. 50RACE analysis revealed several transcription start sites, novel exons located in introns 2 and 7, and a larger exon 13. The 50UTR CCM1 region showed at least eight splicing variants which were differentially transcribed. The results shown here expand our knowledge of CCM1 gene expression, which seems to be more complex than previously reported. The novel minor-form exons herein described should be considered in molecular diagnosis of CCM. These findings support new functional transcript sequences that could be considered in the pathogenesis and variable clinical penetrance of Krit1-linked CCMs.

Temporal and spatial variability in the nutritive value of pasture vegetation and supplement feedstuffs for domestic ruminants in Western Kenya

Alice Anyango Onyango,Uta Dickhoefer,Mariana Cristina Rufino,Klaus Butterbach-Bahl,John Patrick Goopy 아세아·태평양축산학회 2019 Animal Bioscience Vol.32 No.5

Objective: The study aimed at quantifying seasonal and spatial variations in availability and nutritive value of herbaceous vegetation on native pastures and supplement feedstuffs for domestic ruminants in Western Kenya. Methods: Samples of herbaceous pasture vegetation (n = 75) and local supplement feedstuffs (n = 46) for cattle, sheep, and goats were collected in 20 villages of three geographic zones (Highlands, Mid-slopes, Lowlands) in Lower Nyando, Western Kenya, over four seasons of one year. Concentrations of dry matter (DM), crude ash (CA), ether extract (EE), crude protein (CP), neutral detergent fibre (NDF), gross energy (GE), and minerals were determined. Apparent total tract organic matter digestibility (dOM) was estimated from in vitro gas production and proximate nutrient concentrations or chemical composition alone using published prediction equations. Results: Nutrient, energy, and mineral concentrations were 52 to 168 g CA, 367 to 741 g NDF, 32 to 140 g CP, 6 to 45 g EE, 14.5 to 18.8 MJ GE, 7.0 to 54.2 g potassium, 0.01 to 0.47 g sodium, 136 to 1825 mg iron, and 0.07 to 0.52 mg selenium/kg DM. The dOM was 416 to 650 g/kg organic matter but differed depending on the estimation method. Nutritive value of pasture herbage was superior to most supplement feedstuffs, but its value strongly declined in the driest season. Biomass yields and concentrations of CP and potassium in pasture herbage were highest in the Highlands amongst the three zones. Conclusion: Availability and nutritive value of pasture herbage and supplement feedstuffs greatly vary between seasons and geographical zones, suggesting need for season- and region-specific feeding strategies. Local supplement feedstuffs partly compensate for nutritional deficiencies. However, equations to accurately predict dOM and improved knowledge on nutritional characteristics of tropical ruminant feedstuffs are needed to enhance livestock production in this and similar environments.

Mineralogy and geochemistry of clastic sediments of the Terani Formation, Cauvery Basin, southern India: implications for paleoweathering, provenance and tectonic setting

Jayagopal Madhavaraju,Subin Prakash Rajendra,이용일,Erik Ramirez Montoya,Sooriamuthu Ramasamy,Rufino Lozano SantaCruz 한국지질과학협의회 2020 Geosciences Journal Vol.24 No.6

Mineralogical and geochemical (major, trace and rare earth elements) studies were carried out on the clay samples of the Terani Formation, South India to investigate the paleoweathering, source rocks characteristics and tectonic setting. The chemical index of alteration (CIA), plagioclase index of alteration (PIA) values and A-CN-K diagram indicate that clays were generated from source rocks of the upper continental crust affected by intense chemical weathering. The chondrite-normalized REE patterns show considerable LREE enrichment, HREE depletion with significant negative Eu anomalies. The REE patterns, elemental ratios like Al2O3/TiO2, Cr/Ni, Eu/Eu*, (La/Lu)cn, La/Sc, Th/Sc, La/Co, Th/Co, and Cr/Th, discriminant function diagram, various bivariate and ternary plots indicate the contribution of sediments from felsic and intermediate source rocks. The discriminant-function-based tectonic setting diagrams reveal passive margin setting for the source area of the Terani Formation.

Intake, digestibility, and rumen and metabolic characteristics of cattle fed low-quality tropical forage and supplemented with nitrogen and different levels of starch

Marcia de Oliveira Franco,Edenio Detmann,Sebastiao de Campos Valadares Filho,Erick Darlisson Batista,Luana Marta de Almeida Rufino,Marcilia Medrado Barbosa,Alexandre Ribeiro Lopes 아세아·태평양축산학회 2017 Animal Bioscience Vol.30 No.6

Objective: Effects of nitrogen supplementation associated with different levels of starch on voluntary intake, digestibility, and rumen and metabolic characteristics of cattle fed low-quality tropical forage (Brachiaria decumbens hay, 7.4% crude protein, CP) were evaluated using ruminal and abomasal cannulated steers. Methods: Five European×Zebu young bulls (186 kg body weight, BW) were distributed according to a 5×5 Latin square. The following treatments were evaluated: control, supplementation with 300 g CP/d (0:1), supplementation with 300 g starch/d and 300 g CP/d (1:1), supplementation with 600 g starch/d and 300 g CP/d (2:1), and supplementation with 900 g starch/d and 300 g CP/d (3:1). A mixture of nitrogenous compounds provided 1/3 from true protein (casein) and 2/3 from non-protein nitrogen (mixture of urea and ammonium sulphate, 9:1) was used as the nitrogen supplement. In order to supply energy a unique source of corn starch was used. Results: Supplements increased (p<0.05) dry matter intake, but did not affect (p>0.05) forage intake. There was a cubic effect (p<0.05) of starch on voluntary intake. This was attributed to the highest forage intake (g/kg BW) when using the 2:1 starch:CP ratio. Supplements increased (p<0.05) organic matter (OM) digestibility, but did not affect (p>0.05) neutral detergent fibre corrected for ash and protein (NDFap) digestibility. There was a positive linear effect (p<0.05) of the amount of starch supplemented on OM digestibility. Total NDFap digestibility was not affected (p>0.05) by the amount of supplemental starch. Ruminal ammonia nitrogen concentrations were higher (p<0.05) in supplemented animals, however, a negative linear effect (p<0.05) of amount of starch was observed. Supplements increased (p<0.05) the nitrogen balance (NB) and efficiency of nitrogen utilization. These effects were attributed to increased body anabolism, supported by higher (p<0.05) serum concentration of insulin-like growth factor 1. Increasing the amount of starch tended (p<0.06) to linearly increase the NB. In spite of this, there was a highest NB value for the 2:1 starch:CP ratio amongst the treatments with supplementation. Conclusion: Nitrogen supplementation in cattle fed low-quality tropical forage increases nitrogen retention in the animal’s body. An additional supply of starch increases nitrogen retention by increasing energy availability for both rumen and animal metabolism.

Pharmacological Evidence of α2-Adrenergic Receptors in the Hypotensive Effect of Platonia insignis Mart.

Marcelo Bezerra Mendes,Jose Couras da Silva-Filho,Carla Kelly Barroso Sabino,Daniel Dias Rufino Arcanjo,Cleyton Marcos Melo Sousa,Isabella Cristhina Goncalves Costa,Mariana Helena Chaves,Rita de Ca´ss 한국식품영양과학회 2014 Journal of medicinal food Vol.17 No.10

Platonia insignis Mart. (Clusiaceae) is a medicinal plant from the Brazilian Amazon region. The present study evaluated the biological potential of the ethanol extract (Pi-EtOH) and ethyl acetate fraction (Pi-EtOAc) of the P. insignis fruit shells on the cardiovascular system of rats. Pi-EtOH or Pi-EtOAc (12.5, 25, and 50mg/kg) was administered intravenously in normotensive rats (260–300 g), and the mean arterial pressure and the heart rate were monitored. The Pi-EtOH induced hypotension ( - 11.56– 0.89, - 7.43– 0.85, and - 17.56– 1.97 mmHg) followed by bradycardia in two highest doses ( - 8.89– 3.62 and - 15.79– 1.83 beats/min) and Pi-EtOAc, at the same doses, induced hypotension ( - 11.2– 1.03, - 14.48– 1.13, - 29.89– 2.67 mmHg)more intensively, followedby tachycardia at thedose12.5and25mg/kg(15.64– 2.06, 19.31– 1.92 beats/min) and bradycardia at a dose of 50mg/kg (- 9.98– 7.33 beats/min). The hypotensive response from Pi-EtOAc was not attenuated when used in the pretreatment with L-NAME, verapamil, propranolol, and hexamethonium. However, when using yohimbine, the hypotensive effect was inhibited ( - 4.42– 1.28 (P< .05), - 3.29– 0.99 (P< .05), 2.06– 1.18 mmHg (P< .05); Student’s t-test). Hence, the Pi-EtOAc seems to act similarly to the a2-adrenergic agonist in this hypotensive effect.

Nutritional Performance of Cattle Grazing during Rainy Season with Nitrogen and Starch Supplementation

Lazzarini, Isis,Detmann, Edenio,Filho, Sebastiao de Campos Valadares,Paulino, Mario Fonseca,Batista, Erick Darlisson,Rufino, Luana Marta de Almeida,Reis, William Lima Santiago dos,Franco, Marcia de Ol Asian Australasian Association of Animal Productio 2016 Animal Bioscience Vol.29 No.8

The objective of this work was to evaluate the effects of supplementation with nitrogen and starch on the nutritional performance of grazing cattle during the rainy season. Five rumen cannulated Nellore steers, averaging 211 kg of body weight (BW), were used. Animals grazed on five signal grass paddocks. Five treatments were evaluated: control (forage only), ruminal supplementation with nitrogen at 1 g of crude protein (CP)/kg BW, ruminal supplementation with starch at 2.5 g/kg BW, supplementation with nitrogen (1 g CP/kg BW) and starch (2.5 g/kg BW), and supplementation with nitrogen (1 g CP/kg BW) and a mixture of corn starch and nitrogenous compounds (2.5 g/kg BW), thereby resulting in an energy part of the supplement with 150 g CP/kg of dry matter (DM). This last treatment was considered an additional treatment. The experiment was carried out according to a $5{\times}5$ Latin square design following a $2{\times}2+1$ factorial arrangement (with or without nitrogen, with or without starch, and the additional treatment). Nitrogen supplementation did not affect (p>0.10) forage intake. Starch supplementation increased (p<0.10) total intake but did not affect (p<0.10) forage intake. There was an interaction between nitrogen and starch (p<0.10) for organic matter digestibility. Organic matter digestibility was increased only by supplying starch and nitrogen together. Nitrogen balance (NB) was increased (p<0.10) by the nitrogen supplementation as well as by starch supplementation. Despite this, even though a significant interaction was not observed (p>0.10), NB obtained with nitrogen plus starch supplementation was greater than NB obtained with either nitrogen or starch exclusive supplementation. Supplementation with starch and nitrogen to beef cattle grazing during the rainy season can possibly improve digestion and nitrogen retention in the animal.