Valor diagnòstic de les lesions medul·lars a les síndromes neurològiques aïllades.

L’objectiu del treball és determinar la prevalença de lesions desmielinitzants a la medul·la espinal a les síndromes neurològiques aïllades i el valor afegit de la ressonància magnètica medul·lar. Es van incloure 113 pacients amb síndromes neurològiques aïllades a l’estudi. Els criteris diagnòstics d’esclerosi múltiple de McDonald 2005 es complien en un 43% dels pacients quan només eren valorades les lesions cerebrals, incrementant-se fins el 46% quan les lesions medul·lars eren també valorades. Aquests percentatges, en pacients amb síndromes neurològiques aïllades variaven del 47% al 53%. Com a conclusió considerem que la realització d’RM medul·lar als pacients amb síndromes neurològiques aïllades té una escassa contribució en la demostració de disseminació en l’espai, suggerint que no caldria realitzar una RM medul·lar als pacients amb síndrome neurològica aïllada no medul·lar, però es podria considerar quan les troballes cerebrals per RM no siguin concluents per a establir el diagnòstic d’Esclerosi Múltiple segons els criteris de McDonald 2005.

Segmentació de teixit i lesions en imatges de MRI de malalts d'esclerosi múltiple

Actualment, en l'àmbit mèdic, la ressonància magnètica, MRI Magnetic Resonance Imaging, és un dels sistemes més utilitzats per a la realització de diagnòstics i el seguiment de l'evolució de malalties com l'esclerosi múltiple (EM). No obstant, la gran quantitat d'informació que proporciona aquesta modalitat té com a conseqüència una tasca feixuga d'anàlisi i d'interpretació per part dels radiòlegs i neuròlegs. L'objectiu general d'aquest projecte és desenvolupar un sistema per ajudar als metges a segmentar les imatges de MRI del cervell. S'ha implementat amb MATLAB. Durant tot el procés s'han utilitzat dades sintètiques, de la base de dades simulada BrainWeb, i reals, proporcionades pels grup de metges col•laboradors amb el grup VICOROB.El projecte s'emmarca dins d'un projecte de recerca del grup de Visió per Computador i Robòtica de la Universitat de Girona

Descriptors de forma per lesions mamogràfiques

El present Projecte Final de Carrera s’emmarca dins el projecte HRIMAC (Herramienta de Recuperación de Imágenes Mamográficas por Análisis de Contenido), iniciat l’any 2003 i subvencionat pel Ministerio de Ciencia y Tecnología i els fons FEDER. En el projecte HRIMAC hi participa la Universitat de Girona, la Universitat Ramon Llull i especialistes de l’Hospital de Girona Josep Trueta. Aquest PFC pretén ésser una eina per testejar diferents mètodes d’extracció de característiques útils a l’hora de recuperar casos de la base de dades de HRIMAC. S’han estudiat, discutit, analitzat i implementat la caracterització de lesions segons la seva forma. S’han avaluat diferents descriptors de forma per tal de determinar quins són els millors a l’hora de tractar amb lesions mamogràfiques

El patró “no dipper” i la rigidesa arterial, poden estar relacionats amb les lesions glomerulars incipients dels pacients amb obesitat mòrbida?

La monitorització ambulatòria de la pressió arterial (MAPA) és la millor tècnica pel diagnòstic d’hipertensió arterial i es relaciona millor amb l’afectació d’òrgans diana respecte la pressió arterial clínica. Recentment, s’ha descrit un indicador de rigidesa arterial que s’ estima a partir de la MAPA, l’ Ambulatory Arterial Stiffnes Index (AASI). En aquest treball es valora si els pacients amb obesitat mòrbida presenten rigidesa arterial mesurada a través de la MAPA i s’identifiquen factors de risc associats amb la lesió glomerular i vascular.

Hereditary hepatic and systemic amyloidosis caused by a new deletion/insertion mutation in the apolipoprotein AI gene.

We report a Spanish family with autosomal-dominant non-neuropathic hereditary amyloidosis with a unique hepatic presentation and death from liver failure, usually by the sixth decade. The disease is caused by a previously unreported deletion/insertion mutation in exon 4 of the apolipoprotein AI (apoAI) gene encoding loss of residues 60-71 of normal mature apoAI and insertion at that position of two new residues, ValThr. Affected individuals are heterozygous for this mutation and have both normal apoAI and variant molecules bearing one extra positive charge, as predicted from the DNA sequence. The amyloid fibrils are composed exclusively of NH2-terminal fragments of the variant, ending mainly at positions corresponding to residues 83 and 92 in the mature wild-type sequence. Amyloid fibrils derived from the other three known amyloidogenic apoAI variants are also composed of similar NH2-terminal fragments. All known amyloidogenic apoAI variants carry one extra positive charge in this region, suggesting that it may be responsible for their enhanced amyloidogenicity. In addition to causing a new phenotype, this is the first deletion mutation to be described in association with hereditary amyloidosis and it significantly extends the value of the apoAI model for investigation of molecular mechanisms of amyloid fibrillogenesis.

Specific (granulomatous) oral lesions of sarcoidosis: Report of two cases

Sarcoidosis is a multisystemic granulomatous disease of unknown etiology that usually presents with bilateral hiliar adenopathies, pulmonary infiltrations, and ocular and cutaneous lesions. The specific cutaneous lesions, or granulomatous, are produced in from 9% to 37% of patients with systemic sarcoidosis. Nevertheless, few patients have been described having specific lesions from sarcoidosis in the oral mucous membrane. We present 2 patients with systemic sarcoidosis who developed specific sarcoidosis lesions in the oral mucous membrane. The first patient presented a plaque on the tongue of a chronic nature associated with facial lupus pernio. The second patient presented a rapidly growing nodular lesion on the lower lip that was in fact the presentation sign of the disease. Although infrequent, oral lesions may constitute the first sign of systemic sarcoidosis. For this reason the oral mucous membrane needs to be explored when there is suspicion of sarcoidosis, and systemic sarcoidosis must be included in the differential diagnosis of oral granulomatous lesions.

Impaired uptake of glutathione by hepatic mitochondria from chronic ethanol-fed rats. Tracer kinetic studies in vitro and in vivo and susceptibility to oxidant stress.

Isolated hepatocytes incubated with [35S]-methionine were examined for the time-dependent accumulation of [35S]-glutathione (GSH) in cytosol and mitochondria, the latter confirmed by density gradient purification. In GSH-depleted and -repleted hepatocytes, the increase of specific activity of mitochondrial GSH lagged behind cytosol, reaching nearly the same specific activity by 1-2 h. However, in hepatocytes from ethanol-fed rats, the rate of increase of total GSH specific radioactivity in mitochondria was markedly suppressed. In in vivo steady-state experiments, the mass transport of GSH from cytosol to mitochondria and vice versa was 18 nmol/min per g liver, indicating that the half-life of mitochondrial GSH was approximately 18 min in controls. The fractional transport rate of GSH from cytosol to mitochondria, but not mitochondria to cytosol, was significantly reduced in the livers of ethanol-fed rats. Thus, ethanol-fed rats exhibit a decreased mitochondrial GSH pool size due to an impaired entry of cytosol GSH into mitochondria. Hepatocytes from ethanol-fed rats exhibited a greater susceptibility to the oxidant stress-induced cell death from tert-butylhydroperoxide. Incubation with glutathione monoethyl ester normalized the mitochondrial GSH and protected against the increased susceptibility to t-butylhydroperoxide, which was directly related to the lowered mitochondrial GSH pool size in ethanol-fed cells.

Expression cloning of a rat hepatic reduced glutathione transporter with canalicular characteristics

Using the Xenopus oocyte expression system, we have previously identified an approximately 4-kb fraction of mRNA from rat liver that expresses sulfobromophthalein-glutathione (BSP-GSH)-insensitive reduced glutathione (GSH) transport (Fernandez-Checa, J., J. R. Yi, C. Garcia-Ruiz, Z. Knezic, S. Tahara, and N. Kaplowitz. 1993. J. Biol. Chem. 268:2324-2328). Starting with a cDNA library constructed from this fraction, we have now isolated a single clone that expresses GSH transporter activity. The cDNA for the rat canalicular GSH transporter (RcGshT) is 4.05 kb with an open reading frame of 2,505 nucleotides encoding for a polypeptide of 835 amino acids (95,785 daltons). No identifiable homologies were found in searching various databases. An approximately 96-kD protein is generated in in vitro translation of cRNA for RcGshT. Northern blot analysis reveals a single 4-kb transcript in liver, kidney, intestine, lung, and brain. The abundance of mRNA for RcGshT in rat liver increased 3, 6, and 12 h after a single dose of phenobarbital. Insensitivity to BSP-GSH and induction by phenobarbital, unique characteristics of canalicular GSH secretion, suggest that RcGshT encodes for the canalicular GSH transporter.

Assessment of therapeutic benefit of antiviral therapy in chronic hepatitis C: is hepatic venous pressure gradient a better end point?

Chronic hepatitis C is a major healthcare problem. The response to antiviral therapy for patients with chronic hepatitis C has previously been defined biochemically and by PCR. However, changes in the hepatic venous pressure gradient (HVPG) may be considered as an adjunctive end point for the therapeutic evaluation of antiviral therapy in chronic hepatitis C. It is a validated technique which is safe, well tolerated, well established, and reproducible. Serial HVPG measurements may be the best way to evaluate response to therapy in chronic hepatitis C.

CO2 wedged hepatic venography in the evaluation of portal hypertension.

BACKGROUND/AIMS/METHODS During hepatic vein catheterisation, in addition to measurement of hepatic venous pressure gradient (HVPG), iodine wedged retrograde portography can be easily obtained. However, it rarely allows correct visualisation of the portal vein. Recently, CO2 has been suggested to allow better angiographic demonstration of the portal vein than iodine. In this study we investigated the efficacy of CO2 compared with iodinated contrast medium for portal vein imaging and its role in the evaluation of portal hypertension in a series of 100 patients undergoing hepatic vein catheterisation, 71 of whom had liver cirrhosis. RESULTS In the overall series, CO2 venography was markedly superior to iodine, allowing correct visualisation of the different segments of the portal venous system. In addition, CO2, but not iodine, visualised portal-systemic collaterals in 34 patients. In cirrhosis, non-visualisation of the portal vein on CO2 venography occurred in 11 cases; four had portal vein thrombosis and five had communications between different hepatic veins. Among non-cirrhotics, lack of portal vein visualisation had a 90% sensitivity, 88% specificity, 94% negative predictive value, and 83% positive predictive value in the diagnosis of pre-sinusoidal portal hypertension. CONCLUSIONS Visualisation of the venous portal system by CO2 venography is markedly superior to iodine. The use of CO2 wedged portography is a useful and safe complementary procedure during hepatic vein catheterisation which may help to detect portal thrombosis. Also, lack of demonstration of the portal vein in non-cirrhotic patients strongly suggests the presence of pre-sinusoidal portal hypertension.

Hereditary hepatic and systemic amyloidosis caused by a new deletion/insertion mutation in the apolipoprotein AI gene.

We report a Spanish family with autosomal-dominant non-neuropathic hereditary amyloidosis with a unique hepatic presentation and death from liver failure, usually by the sixth decade. The disease is caused by a previously unreported deletion/insertion mutation in exon 4 of the apolipoprotein AI (apoAI) gene encoding loss of residues 60-71 of normal mature apoAI and insertion at that position of two new residues, ValThr. Affected individuals are heterozygous for this mutation and have both normal apoAI and variant molecules bearing one extra positive charge, as predicted from the DNA sequence. The amyloid fibrils are composed exclusively of NH2-terminal fragments of the variant, ending mainly at positions corresponding to residues 83 and 92 in the mature wild-type sequence. Amyloid fibrils derived from the other three known amyloidogenic apoAI variants are also composed of similar NH2-terminal fragments. All known amyloidogenic apoAI variants carry one extra positive charge in this region, suggesting that it may be responsible for their enhanced amyloidogenicity. In addition to causing a new phenotype, this is the first deletion mutation to be described in association with hereditary amyloidosis and it significantly extends the value of the apoAI model for investigation of molecular mechanisms of amyloid fibrillogenesis.

Upper gastrointestinal bleeding in cirrhosis: clinical and endoscopic correlations

The clinical data of 180 episodes of upper gastrointestinal bleeding in 168 patients with cirrhosis of the liver are examined. The source of bleeding had been determined by early endoscopy in all cases. In men under the age of 50 years, and without symptoms of liver failure, bleeding was due to ruptured gastro-oesophageal varices in 84% of cases. Severe liver failure was associated with acute lesions of gastric mucosa in many cases. No presumptive diagnosis of the source of haemorrhage could be based on the examination of other clinical data (presence of ascites, mode of presentation and pattern of bleeding, history of ulcer disease, alcoholism, and previous medication.

Intestinal and hepatic nitrogen balance in the rat after the administration of an oral protein load

The fate of a small oral dose of protein given to overnight-starved rats was studied. After 3 h, 62 per cent of the protein amino acids had been absorbed. Most of the absorbed N went into the bloodstream through the portal in the form of amino acids, but urea and ammonia were also present. About one-quarter of all absorbed N was carried as lymph amino acids. The liver was able to take all portal free ammonia and a large proportion of portal amino acids, releasing urea. The hepatic N balance was negative, indicating active proteolysis and net loss of liver protein.

Upper gastrointestinal bleeding in cirrhosis: clinical and endoscopic correlations

The clinical data of 180 episodes of upper gastrointestinal bleeding in 168 patients with cirrhosis of the liver are examined. The source of bleeding had been determined by early endoscopy in all cases. In men under the age of 50 years, and without symptoms of liver failure, bleeding was due to ruptured gastro-oesophageal varices in 84% of cases. Severe liver failure was associated with acute lesions of gastric mucosa in many cases. No presumptive diagnosis of the source of haemorrhage could be based on the examination of other clinical data (presence of ascites, mode of presentation and pattern of bleeding, history of ulcer disease, alcoholism, and previous medication.

Estudi sobre la utilitat d'una intervenció de pacient expert en pacients amb lesions per cremades

Les lesions per cremades comporten conseqüències a nivell físic, psicològic i social. Les intervencions psicosocials per aquests pacients estan valorades de forma positiva però manquen estudis fets a l’Estat Espanyol. Les intervencions de pacient expert estan donant resultats positius en moltes patologies cròniques però no n’existeix cap per aquest tipus de lesions cròniques. L’objectiu d’aquest estudi és comprendre la utilitat d’una intervenció de pacient expert a pacients d’entre 18 i 30 anys que han patit lesions per cremades recentment. Es realitzaran 9 sessions de pacient expert des de la perspectiva bio-psicosocial. El grup focal serà un grup de 8-10 pacients de 18 a 30 anys amb un mínim del 15% de superfície corporal cremada de grau 2n profund o 3r, residents a Barcelona o rodalies. Les dades s’analitzaran per mètode mixt amb enfocament dominant qualitatiu. La recollida de dades s’obtindrà d’entrevistes, testos i anotacions realitzades prèvia a la primera sessió, al finalitzar les 9 sessions i als 6 mesos de la última sessió. Les limitacions de l’estudi són: el risc de pèrdua dels membres del grup focal a causa del retorn a la vida laboral i l’heterogeneïtat del grup en la fase d’acceptació, principis i valors personals que podrien desviar els resultats.