The Tabby phenotype is caused by mutation in a mouse homologue of the EDA gene that reveals novel mouse and human exons and encodes a protein (ectodysplasin-A) with collagenous domains

Mouse Tabby (Ta) and X chromosome-linked human EDA share the features of hypoplastic hair, teeth, and eccrine sweat glands. We have cloned the Ta gene and find it to be homologous to the EDA gene. The gene is altered in two Ta alleles with a point mutation or a deletion. The gene is expressed in developing teeth and epidermis; no expression is seen in corresponding tissues from Ta mice. Ta and EDA genes both encode alternatively spliced forms; novel exons now extend the 3′ end of the EDA gene. All transcripts recovered have the same 5′ exon. The longest Ta cDNA encodes a 391-residue transmembrane protein, ectodysplasin-A, containing 19 Gly-Xaa-Yaa repeats. The isoforms of ectodysplasin-A may correlate with differential roles during embryonic development.

Impaired cell volume regulation in intestinal crypt epithelia of cystic fibrosis mice.

Cystic fibrosis is a disease characterized by abnormalities in the epithelia of the lungs, intestine, salivary and sweat glands, liver, and reproductive systems, often as a result of inadequate hydration of their secretions. The primary defect in cystic fibrosis is the altered activity of a cAMP-activated Cl- channel, the cystic fibrosis transmembrane conductance regulator (CFTR) channel. However, it is not clear how a defect in the CFTR Cl- channel function leads to the observed pathological changes. Although much is known about the structural properties and regulation of the CFTR, little is known of its relationship to cellular functions other than the cAMP-dependent Cl- secretion. Here we report that cell volume regulation after hypotonic challenge is also defective in intestinal crypt epithelial cells isolated from CFTR -/- mutant mice. Moreover, the impairment of the regulatory volume decrease in CFTR -/- crypts appears to be related to the inability of a K+ conductance to provide a pathway for the exit of this cation during the volume adjustments. This provides evidence that the lack of CFTR protein may have additional consequences for the cellular function other than the abnormal cAMP-mediated Cl- secretion.

Two cystic fibrosis transmembrane conductance regulator mutations have different effects on both pulmonary phenotype and regulation of outwardly rectified chloride currents.

Cystic fibrosis (CF), a disorder of electrolyte transport manifest in the lungs, pancreas, sweat duct, and vas deferens, is caused by mutations in the CF transmembrane conductance regulator (CFTR). The CFTR protein has been shown to function as a cAMP-activated chloride channel and also regulates a separate protein, the outwardly rectifying chloride channel (ORCC). To determine the consequence of disease-producing mutations upon these functions, mutant CFTR was transiently expressed in Xenopus oocytes and in human airway epithelial cells lacking functional CFTR. Both G551D, a mutation that causes severe lung disease, and A455E, a mutation associated with mild lung disease, altered but did not abolish CFTR's function as a chloride channel in Xenopus oocytes. Airway epithelial cells transfected with CFTR bearing either A455E or G551D had levels of chloride conductance significantly greater than those of mock-transfected and lower than those of wild-type CFTR-transfected cells, as measured by chloride efflux. A combination of channel blockers and analysis of current-voltage relationships were used to dissect the contribution of CFTR and the ORCC to whole cell currents of transfected cells. While CFTR bearing either mutation could function as a chloride channel, only CFTR bearing A455E retained the function of regulating the ORCC. These results indicate that CF mutations can affect CFTR functions differently and suggest that severity of pulmonary disease may be more closely associated with the regulatory rather than chloride channel function of CFTR.

Phosphonate and quinoxaline cavitands for molecular recognition and sensing

In the last decade, phosphonate and quinoxaline cavitand have been extensively studied, highlighting their outstanding recognition properties. Their successful applications in material science and sensing open the way to new potential applications, such as border security, environmental monitoring and chiral recognition. The present thesis explores the recognition properties of phosphonate and quinoxaline cavitands towards new targets, for molecular recognition and sensing applications. Chapter 2 highlights the enantioselective behavior of phosphonate cavitands towards chiral guests in the solid state and in solution. Phosphonate cavitands were exploited for the molecular recognition of L-lactic acid (chapter 3), a widespread natural molecule which offer multiple potential applications, and a human sweat marker used for the detection of human presence (chapter 4). The second part is devoted to sensing applications of quinoxaline cavitands. Chapter 5 describes the use of QxCav for the preconcentration of drugs precursors, while chapter 6 reports the design, synthesis and grafting of a rigidified EtQxBox on a silicon wafer.

Evaluación de la ingesta de líquido, pérdida de peso y tasa de sudoración en jóvenes triatletas

Introducción: El triatlón es un deporte de resistencia que comprende tres disciplinas: natación, ciclismo y carrera a pie. Es necesario establecer pautas de hidratación para prevenir deshidrataciones durante entrenamientos o competiciones y mantener un buen estado de hidratación antes, durante y después del ejercicio. El objetivo de este estudio es evaluar la ingesta de líquido, pérdida de peso y tasa de sudoración en jóvenes triatletas, durante diferentes entrenamientos. Material y Métodos: Estudio descriptivo-observacional en 14 triatletas (7 chicos y 7 chicas) durante una sesión de natación, otra de ciclismo y otra de carrera a pie. Se valoró la ingesta de líquido, pérdida de peso, % agua corporal total, % deshidratación y tasa de sudoración. Los triatletas bebieron agua en sus respectivos bidones de 750 ml y se realizó una medición de orina en containers. Resultados: Los resultados del estudio siguiendo el orden de natación, ciclismo y carrera a pie fueron: ingesta agua 2,66±1,94ml/min, 7,91±7,69ml/min y 7,08±4,13ml/min en chicos y 3,43±1,53ml/min, 6,39±5,36ml/min y 8,33±2,74ml/min en chicas; pérdida de peso 0,83±0,5kg, 0,47±0,3kg y 0,98±0,4kg en chicos y 0,79±0,3kg, 0,47±0,58kg y 0,28±0,21kg en chicas; y tasa sudoración 4,44±4,9ml/min, 11,81±6,46ml/min y 5,29±3,13ml/min en chicos y 3,89±2,4ml/min, 4,69±4,20ml/min y 7,96±5,06ml/min en chicas. Conclusiones: Se comparó el porcentaje de agua corporal y deshidratación, la pérdida de peso y la tasa de sudoración con otros estudios y se observa que nuestros resultados son inferiores a los estudios comparados, además están por debajo de la media de recomendaciones de líquido establecidas por el consenso de hidratación.

Diary of Elias Mann, 1796-1800

Elias Mann kept this diary during his undergraduate years at Harvard College. The diary begins August 17, 1796 and ends in August of 1800 and also includes several undated sheets filled with excerpts of poems. The daily entries describe many aspects of Mann's life, including not only his experiences at Harvard but also his involvement in the larger community. Entries related to life at Harvard describe club meetings (coffee club, Hasty Pudding Club and Phi Beta Kappa); trips to the theater; dinners at taverns; games and recreation, including a card game called "Loo," cribbage, backgammon, bowling, playing ball, fishing, skating and going for sleigh rides; gathering, and sometimes taking from others' gardens, food (most often plums, peaches, nuts and apples); what he ate (including one breakfast of three raw eggs and two glasses of wine); what he read (including Tristram Shandy and one of "Mrs. Ratcliffe's novels"); his friends, often mentioned by name; and academic work and formalities. In one entry he mentions the theft of several possessions from his room, and there are several entries about trips to Fresh Pond.

Maior longevidade na fibrose quística : que consequências?

Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2014

Critérios de avaliação de prognóstico a longo prazo em doentes com fibrose quística : revisão de literatura e uma visão crítica

Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2014

Dificuldades no diagnóstico de fibrose quística : dois casos clínicos

Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2014

Fibrose quística : fenótipo e genótipo : descrição de caso clínico

Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2014

Impacto da colonização por Pseudomonas aeruginosa na fibrose quística

Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2014

Endothelial Progenitor Cells in Breast Cancer

Editorial

Pamphlets - homoeopathic.

Title from spine.

UM Men's Cross Country Team. 1992

Back Row: Ron Warhurst, Jim Finlayson, Matt Joseph, Shawn Mackay, Carlos Paradelo, Jason Colvin, Ian Forsyth, Sean Sweat, Chris Childs, Theo Molla, volunteer coach Dan Heikkinen

Front Row: Mark Kwiatkowski, Jonathan Aubuchon, Brett Smith, Jay Schemanske, Matt Smith, Scott MacDonald, Kristopher Eggle

Portraits of illustrious personages of Great Britain : engraved from authentic pictures in the galleries of His Majesty, the nobility, and the public collections : with biographical and historical memoirs of their lives and actions /

On cover: Portraits and memoirs of the most illustrious personage s of British history...Fourth edition. With an entirely new set of plates, and sixty additional subjects, completing the work to the present period.