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91.
B Soto R Ceballos P H Nath R M Bini A D Pacifico L M Bargeron 《International journal of cardiology》1985,9(3):323-339
An analysis of 6 patients with overriding atrioventricular valve was performed in order to correlate the anatomic and angiographic features of this malformation. The atrial arrangement was usual (situs solitus) in each patient. The ventricular chambers were normally related in 4 and the mirror image of normal in 2. The atrioventricular connexion was concordant in parallel fashion in 4, discordant in 1 and double inlet left ventricle in 1 heart. In 2 of 4 hearts with concordant atrioventricular connexion, the right atrioventricular valve (tricuspid) overrode the septum and connected partially to the left ventricle. In 2, the left atrioventricular valve (mitral) overrode the septum and partially connected with the right ventricle. One heart with discordant atrioventricular connexion had its right atrioventricular valve (mitral) overriding the septum. The remaining heart with double inlet left ventricle had an overriding left atrioventricular valve. Each overriding atrioventricular valve had its "septal" leaflet (the one committed to the contralateral ventricle) divided into 2 segments by a large cleft. Ventricular septal defects at different locations were present in all cases. The ventriculoarterial connexion was double outlet right ventricle in 5 patients and was discordant in 1. Malalignment of the atrial and ventricular septa was present to some degree in all cases. This was well depicted on ventriculograms in four chamber view in those with an overriding tricuspid valve. It was not detected in those with an overriding mitral valve. The displaced leaflets of the overriding and/or stradding valve had a vertical motion on cineangiograms similar to those observed in atrioventricular septal defects. Abnormal morphology and motion of the septal leaflet of the overriding atrioventricular valve and malalignment of the atrial and ventricular septal structures were the most important angiographic findings in this series. 相似文献
92.
Hypertrophic cardiomyopathy linked to homozygosity for a new mutation in the myosin-binding protein C gene (A627V) suggests a dosage effect 总被引:3,自引:0,他引:3
García-Castro M Reguero JR Alvarez V Batalla A Soto MI Albaladejo V Coto E 《International journal of cardiology》2005,102(3):501-507
Mutations in the cardiac myosin-binding protein C gene (MYBPC3) are responsible for up to 50% of familial cases with hypertrophic cardiomyopathy (HC). Compared to patients with mutations in other sarcomeric genes, patients with MYBPC3 mutations would have a milder form of the disease, with a lower incidence of sudden cardiac death. Because most of the mutations have been found in only one family, it is currently difficult to establish a correlation between a particular mutation and the HC phenotype. The aim of our study was to contribute to understanding of the role of MYBPC3 mutations in HC. We analysed the MYBPC3 exons and intron flanking regions in 10 patients from 10 families with at least two HC cases. After direct sequencing of polymerase chain reaction (PCR) fragments, we found three new mutations in three families (V771M, V342D, and A627V). These changes affected evolutionary conserved amino acids and were not found in 100 healthy controls. The Ala 627>Val was found homozygous in a 47-year-old patient with a severe form of HC, while his mother and a nephew were heterozygous carriers and asymptomatic. This fact suggests a dosage effect for mutations at the MYPBC3 gene. 相似文献
93.
Olivera Grbovic-Huezo Kenneth L. Pitter Nicolas Lecomte Joseph Saglimbeni Gokce Askan Matilda Holm Jerry P. Melchor Rohit Chandwani Suhasini Joshi Caj Haglund Christine A. Iacobuzio-Donahue Gabriela Chiosis Tuomas Tammela Steven D. Leach 《Proceedings of the National Academy of Sciences of the United States of America》2020,117(48):30670
94.
Laura Villarreal‐Martínez Jaime García‐Chvez Berenice Snchez‐Jara Aida Mashenka Moreno‐Gonzlez Janet Soto‐Padilla Efraín Aquino‐Fernndez Rogelio Paredes‐Aguilera Karla Maldonado‐Silva Cecilia Rodríguez‐Castillejos Ana Itamar Gonzlez‐vila María Mora‐Torres Hector Manuel Tiznado‐García Natalia Elizabeth Padilla‐Durn Nuria Citlali Luna‐Silva Eric Israel Gutirrez‐Jurez Jorge Nemi‐Cueto Claudia Sofia Gmez‐Gonzlez Ricardo De Len‐Figueroa Adela Lpez‐Miranda Mirna Guadalupe Ríos‐Osuna Edna Liliana Tamez‐Gmez Elio Aarn Reyes‐Espinoza Irving Armando Domínguez‐Varela Gerardo Gonzlez‐Martínez Elias Adn Godoy‐Salinas 《Haemophilia》2020,26(2):290-297
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Organization of sensory input to the nociceptive‐specific cutaneous trunk muscle reflex in rat,an effective experimental system for examining nociception and plasticity 下载免费PDF全文
Jeffrey C. Petruska Darrell F. Barker Sandra M. Garraway Robert Trainer James W. Fransen Peggy A. Seidman Roy G. Soto Lorne M. Mendell Richard D. Johnson 《The Journal of comparative neurology》2014,522(5):1048-1071
Detailed characterization of neural circuitries furthers our understanding of how nervous systems perform specific functions and allows the use of those systems to test hypotheses. We have characterized the sensory input to the cutaneous trunk muscle (CTM; also cutaneus trunci [rat] or cutaneus maximus [mouse]) reflex (CTMR), which manifests as a puckering of the dorsal thoracolumbar skin and is selectively driven by noxious stimuli. CTM electromyography and neurogram recordings in naïve rats revealed that CTMR responses were elicited by natural stimuli and electrical stimulation of all segments from C4 to L6, a much greater extent of segmental drive to the CTMR than previously described. Stimulation of some subcutaneous paraspinal tissue can also elicit this reflex. Using a selective neurotoxin, we also demonstrate differential drive of the CTMR by trkA‐expressing and nonexpressing small‐diameter afferents. These observations highlight aspects of the organization of the CTMR system that make it attractive for studies of nociception and anesthesiology and plasticity of primary afferents, motoneurons, and the propriospinal system. We use the CTMR system to demonstrate qualitatively and quantitatively that experimental pharmacological treatments can be compared with controls applied either to the contralateral side or to another segment, with the remaining segments providing controls for systemic or other treatment effects. These data indicate the potential for using the CTMR system as both an invasive and a noninvasive quantitative assessment tool providing improved statistical power and reduced animal use. J. Comp. Neurol. 522:1048–1071, 2014. © 2013 Wiley Periodicals, Inc. 相似文献
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M. Uribe A. Alba G. González B. Hunter C. Heine R. Íñiguez S. Cavallieri L. Flores P. Soto H. Auad R. Zuleta C. Acuña 《Transplantation proceedings》2013,45(10):3726-3727
IntroductionPediatric liver transplantation is limited by donation. In the last 5 years, urgent conditions have forced transplant teams to accept donors with minor suboptimal conditions, termed “extended donor criteria.” Among those, the risk of using severe hypernatremic donors (SHD) for liver transplant is not yet well established. The aim of this study is to report the outcome of pediatric patients receiving grafts from SHD.MethodsClinical records of patients transplanted in the last 3 years at Hospital Luis Calvo Mackenna, Santiago, Chile, were reviewed. Outcome was evaluated in terms of patient and graft survival and complications potentially associated to the donor condition.ResultsFive of 33 deceased donor transplants presented with SHD. All recipients were waiting transplant in an acute condition, one of them in acute liver failure (ALF). No living related donor was available. Donors' serum sodium was 169 to 193 mEq/L before medical management and between 157 and 172 mEq/L at procurement. One patient died from sepsis related to biliary complications, and the patient suffering ALF developed primary graft nonfunction, received a second transplant 2 weeks later, and recovered to stable medical condition. No other complication was registered in these patients.DiscussionOur findings allow us to postulate that hypernatremic deceased donors may be used for pediatric liver transplant under special circumstances. 相似文献