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2.
Neurologia (Engl Ed) ; 35(3): 185-206, 2020 Apr.
Article in English, Spanish | MEDLINE | ID: mdl-31003788

ABSTRACT

BACKGROUND AND OBJECTIVES: Steinert's disease or myotonic dystrophy type 1 (MD1), (OMIM 160900), is the most prevalent myopathy in adults. It is a multisystemic disorder with dysfunction of virtually all organs and tissues and a great phenotypical variability, which implies that it has to be addressed by different specialities with experience in the disease. The knowledge of the disease and its management has changed dramatically in recent years. This guide tries to establish recommendations for the diagnosis, prognosis, follow-up and treatment of the complications of MD1. MATERIAL AND METHODS: Consensus guide developed through a multidisciplinary approach with a systematic literature review. Neurologists, pulmonologists, cardiologists, endocrinologists, neuropaediatricians and geneticists have participated in the guide. RECOMMENDATIONS: The genetic diagnosis should quantify the number of CTG repetitions. MD1 patients need cardiac and respiratory lifetime follow-up. Before any surgery under general anaesthesia, a respiratory evaluation must be done. Dysphagia must be screened periodically. Genetic counselling must be offered to patients and relatives. CONCLUSION: MD1 is a multisystemic disease that requires specialised multidisciplinary follow-up.


Subject(s)
Genetic Counseling , Myotonic Dystrophy/diagnosis , Myotonic Dystrophy/genetics , Practice Guidelines as Topic/standards , Deglutition Disorders , Follow-Up Studies , Humans , Myotonic Dystrophy/complications
3.
Phys Chem Chem Phys ; 14(17): 6067-78, 2012 May 07.
Article in English | MEDLINE | ID: mdl-22450696

ABSTRACT

The roaming dynamics in the photodissociation of acetaldehyde is studied through the first absorption band, in the wavelength interval ranging from 230 nm to 325 nm. Using a combination of the velocity-map imaging technique and rotational resonance enhanced multiphoton ionization (REMPI) spectroscopy of the CO fragment, the branching ratio between the canonical transition state and roaming dissociation mechanisms is obtained at each of the photolysis wavelengths studied. Upon one photon absorption, the molecule is excited to the first singlet excited S(1) state, which, depending on the excitation wavelength, either converts back to highly vibrationally excited ground S(0) state or undergoes intersystem crossing to the first excited triplet T(1) state, from where the molecule can dissociate over two main channels: the radical (CH(3) + HCO) and the molecular (CO + CH(4)) channels. Three dynamical regions are characterized: in the red edge of the absorption band, at excitation energies below the T(1) barrier, the ratio of the roaming dissociation channel increases, largely surpassing the transition state contribution. As the excitation wavelength is increased, the roaming propensity decreases reaching a minimum at wavelengths ∼308 nm. Towards the blue edge, at 230 nm, an upper limit of ∼50% has been estimated for the contribution of the roaming channel. The experimental results are interpreted in terms of the interaction between the different potential energy surfaces involved by means of ab initio stationary points and intrinsic reaction coordinate paths calculations.

5.
J Chem Phys ; 133(6): 064303, 2010 Aug 14.
Article in English | MEDLINE | ID: mdl-20707566

ABSTRACT

The photodissociation of acetaldehyde in the radical channel has been studied at wavelengths between 315 and 325 nm using the velocity-map imaging technique. Upon one-photon absorption at 315 nm, the molecule is excited to the first singlet excited state S(1), which, in turn, undergoes intersystem crossing to the first excited triplet state T(1). On the triplet surface, the molecule dissociates into CH(3) and HCO radicals with large kinetic energy release (KER), in accordance with the well characterized exit barrier on T(1). However, at longer wavelengths (>320 nm), which correspond to excitation energies just below the triplet barrier, a sudden change in KER is observed. At these photolysis wavelengths, there is not enough energy to surpass the exit barrier on the triplet state, which leaves the possibility of unimolecular dissociation on S(0) after internal conversion from S(1). We have characterized the fragments' KER at these wavelengths, as well as determined the energy partitioning for the radical fragments. A new accurate estimate of the barrier height on T(1) is presented.

6.
J Chem Phys ; 131(17): 174309, 2009 Nov 07.
Article in English | MEDLINE | ID: mdl-19895014

ABSTRACT

The photodissociation of methyl iodide at different wavelengths in the red edge of the A-band (286-333 nm) has been studied using a combination of slice imaging and resonance enhanced multiphoton ionization detection of the methyl fragment in the vibrational ground state (nu=0). The kinetic energy distributions (KED) of the produced CH(3)(nu=0) fragments show a vibrational structure, both in the I((2)P(3/2)) and I( *)((2)P(1/2)) channels, due to the contribution to the overall process of initial vibrational excitation in the nu(3)(C-I) mode of the parent CH(3)I. The structures observed in the KEDs shift toward upper vibrational excited levels of CH(3)I when the photolysis wavelength is increased. The I((2)P(3/2))/I( *)((2)P(1/2)) branching ratios, photofragment anisotropies, and the contribution of vibrational excitation of the parent CH(3)I are explained in terms of the contribution of the three excited surfaces involved in the photodissociation process, (3)Q(0), (1)Q(1), and (3)Q(1), as well as the probability of nonadiabatic curve crossing (1)Q(1)<--(3)Q(0). The experimental results are compared with multisurface wave packet calculations carried out using the available ab initio potential energy surfaces, transition moments, and nonadiabatic couplings, employing a reduced dimensionality (pseudotriatomic) model. A general qualitative good agreement has been found between theory and experiment, the most important discrepancies being in the I((2)P(3/2))/[I((2)P(3/2))+I( *)((2)P(1/2))] branching ratios. Inaccuracies of the available potential energy surfaces are the main reason for the discrepancies.

9.
Transplant Proc ; 40(9): 3117-20, 2008 Nov.
Article in English | MEDLINE | ID: mdl-19010211

ABSTRACT

INTRODUCTION: Acute pancreatitis is not uncommon in fulminant hepatic failure (FHF) as confirmed by histology or serology. A few reports exist of symptomatic pancreatitis in the setting of acute viral hepatitis; the diagnosis is usually made intraoperatively or postmortem. We report three cases of liver transplant (OLT) recipients with severe acute liver failure and severe acute pancreatitis as an intraoperative finding. METHODS: We undertook a retrospective review among a large cohort of liver transplant recipients to define the impact of this problem. RESULTS: Between 1999 and 2007, 293. LTs were performed including 15 (5%) who had severe acute liver failure (nine with FHF and six with an emergency retransplantation [ER]). Among this group, three patients were diagnosed intraoperatively with acute necrotizing pancreatitis (ANP): two patients with associated FHF and one with an ER due to ABO incompatibility. None of the patients had symptoms of pancreatitis. In all, ANP was classified as Balthazar CT grade D-E, which determined the outcome. All the patients developed a pseudocyst and abscess, which required surgical drains. CONCLUSION: ANP was diagnosed as an intraoperative finding in patients with FHF. The mechanism of pancreatitis in patients with FHF is unknown. It may be multifactorial (virus, acute liver failure, hypotension, infection, drug-induced lesion,). This association leads to a worse outcome due to the complications.


Subject(s)
Liver Failure/surgery , Liver Transplantation/methods , Pancreatitis, Acute Necrotizing/complications , Female , Humans , Liver Failure/etiology , Liver Transplantation/physiology , Male , Middle Aged , Retrospective Studies
13.
Phys Chem Chem Phys ; 9(46): 6123-7, 2007 Dec 14.
Article in English | MEDLINE | ID: mdl-18167587

ABSTRACT

The photodissociation of acetaldehyde in the molecular channel yielding CO and CH(4) at 248 nm has been studied, probing different rotational states of the CO(nu = 0) fragment by slice ion imaging using a 2+1 REMPI scheme at around 230 nm. From the slice images, clear evidence of the co-existence of two different mechanisms has been obtained. One of the mechanisms is consistent with the well-studied conventional transition state in which CO products appear rotationally excited, and the second is consistent with a roaming mechanism. This roaming mechanism is characterized by a low rotational energy disposal into the CO fragment as well as by a very low kinetic energy release, corresponding to a high internal energy in the CH(4) counter-fragment.

14.
An Med Interna ; 20(5): 232-8, 2003 May.
Article in Spanish | MEDLINE | ID: mdl-12831296

ABSTRACT

AIMS: The epidemiologic analysis inflammatory bowel disease (IBD) is a powerful research tool to assess the contribution of environmental factors to its etiology. IBD has been reported to have varying frequencies in different parts of the world, and there seem to be significant differences in the disease pattern and clinical course. The aim of the present study was to assess the disease pattern of IBD in Asturias (Spain). PATIENTS AND METHODS: A descriptive epidemiological population based study, retrospective (1954-1993) and prospective (1994-97), was performed to study 1018 patients found, bigger than 14 years, to have IBD, in five areas of Asturias (Spain) (461.965 inhabitants). RESULTS: During the period of time studied, we diagnosed 1018 IBD [565 ulcerative colitis (55.5%), 415 (40.8%) Crohn's disease and 38(3.7%) indeterminate colitis], with 482 females (47.2%), 536 males (52.8%), and male/female: 1.11. Age at diagnosis were 39.49 +/- 1.08 (95% CI : 38.41 +/- 40.57); (UC: 43.95 +/- 1.47; CD: 33.53 +/- 1.51; IC: 38.26 +/- 5.14. p = 0.000. Age at onset previously at diagnosis for UC: 42.84 +/- 1.34; CD: 30.68 +/- 1.40; IC: 36.74 +/- 4.86 (p = 0.000). Diagnosis criteria: UC: syntomatic 97.34% (p = ns), endoscopy 96.63% (p = 0.000 pathology 90.26% (p = 0.000). CD: radiology 83.61% (p =0.000). Study level in CD: 57.57 (p = 0.0005). Family history: 8.4%. The most frequent involvement at diagnosis of UC was proctitis only, in 13.6%, 269% rectum and sigmoid 26% let colitis, 20% pancolitis, and in CD colon only, in 16.7%, 30.3% terminal ileum, 41.3% ileo-colon of the patients. This also helps to explain the differences in severity, need for surgery, and survival noted between community based studies. CONCLUSIONS: We highlight the uniformity of distribution of the inflammatory bowel disease in relation to types and sex. The high frequency of familial Crohn's disease suggests a genetic predisposition. Highlighting a bigger morbilidad for the Crohn's Disease reflected in the surgical requirements, but however with smaller mortality that in ulcerative colitis.


Subject(s)
Inflammatory Bowel Diseases/epidemiology , Adult , Colitis, Ulcerative/epidemiology , Crohn Disease/epidemiology , Female , Humans , Inflammatory Bowel Diseases/pathology , Inflammatory Bowel Diseases/surgery , Male , Prospective Studies , Retrospective Studies , Spain/epidemiology
15.
An. med. interna (Madr., 1983) ; 20(5): 232-238, mayo 2003.
Article in Es | IBECS | ID: ibc-23671

ABSTRACT

Objetivo: La epidemiología de la enfermedad inflamatoria intestinal crónica (EIIC) es una poderosa herramienta de investigación que contribuye a la evaluación de los factores medioambientales que influyen en su etiología. El objetivo de este estudio es conocer distintos aspectos epidemiológicos de la EIIC en nuestro medio. Pacientes y métodos: Estudio epidemiológico descriptivo, poblacional, multicentrico, retrospectivo entre 1954 y 1993 y prospectivo entre 1994 y 1997. Se incluyen 1018 enfermos mayores de 14 años, diagnosticados de EIIC en 5 áreas del Principado de Asturias (España), con un censo de 461.965 habitantes. Resultados: Del total de 1018 identificados [565 CU (55,5 por ciento) (incluyendo proctitis), 415 EC (40,8 por ciento) y 38 CI (3,7 por ciento)], 482 son mujeres (47,2 por ciento) y 536 varones (52,8 por ciento), con una relación V/M de 1,11. La edad media al diagnóstico es de 39,49 ± 1,08 (IC; 95 por ciento: 38,41 - 40,57), [CU: 43,95 ± 1,47; EC: 33,53 ± 1,51; CI: 38,26 ± 5,14]. p = 0,000. La edad media de inicio de síntomas previo al diagnóstico es 37,66 ± 0,97 (CU: 42,84 ± 1,34; EC: 30,68 ± 1,40; CI: 36,74 ± 4,86 (p = 0,000). El diagnóstico de CU ha sido posible con criterios clínicos en el 97,34 por ciento (p = ns), criterios endoscópicos en el 96,63 por ciento (p = 0,000) y criterios histológicos en el 90,26 por ciento (p = 0,000). En la EC: criterios radiológicos 83,61 por ciento (p = 0,000). El nivel cultural es superior en la EC: 57,57 (p = 0,0005). Asociación familiar del 8,4 por ciento. Extensión: en la CU: proctitis 13,6 por ciento, 26,9 por ciento colitis distal, 26 por ciento colitis izquierda, 6 por ciento colitis extensa y el 20 por ciento pancolitis; En la EC el 30,3 por ciento tienen afectación de íleon terminal, el 16,7 por ciento colon, el 41,3 por ciento colon e intestino, el 11,7 por ciento son intestinales extensas y el 3,7 por ciento tienen afectación gastro-duodenal; En la CI destaca un 39,5 por ciento de afectación discontinua. La media de cirugías necesarias para el control de la enfermedad es de 0,44 ± 6,11, (26,62 por ciento de los enfermos). CU: 0,12 ± 3,33 (9,91 por ciento); EC: 0,91 ± 12,9 (50,36 por ciento), p = 0,000. Tasa de Mortalidad de 47,15 /1000 habitantes (CU: T = 61,94; EC: T = 26,50; CI: T= 0,004) p = 0,046. RMS: 0,467 (CU: 6,14; EC: 2,63; CI: 100). Conclusiones: Este estudio que abarca una importante población de enfermos, pretende aportar nuestros resultados epidemiológicos a la Enfermedad Inflamatoria Intestinal Crónica. Nuestros resultados no difieren substancialmente de los de otras publicaciones. La colitis ulcerosa y la enfermedad de Crohn así como el sexo, se distribuyen uniformemente. La elevada asociación familiar entre estas enfermedades sugiere un origen genético de la EIIC. La enfermedad de Crohn se expresa con mayor morbilidad reflejada en los requerimientos quirúrgicos, pero sin embargo con menor mortalidad que en la colitis ulcerosa (AU)


Subject(s)
Adult , Male , Female , Humans , Spain , Inflammatory Bowel Diseases , Retrospective Studies , Prospective Studies , Colitis, Ulcerative , Crohn Disease
16.
An Med Interna ; 20(1): 3-9, 2003 Jan.
Article in Spanish | MEDLINE | ID: mdl-12666301

ABSTRACT

AIMS: To know and to compare Inflammatory Bowel Disease (IBD) Incidence and Prevalence rates in in five areas of Asturias (Spain). We conducted a prospective epidemiologic study of IBD in the Province of Liege (1 million inhabitants). PATIENT AND METHODS: We conducted a descriptive, populational, collaborative epidemiologic study, retrospective between 1954 and 1993 and prospective between 1994 and 1997. All patients diagnosed according to a standard protocol for case ascertainment and definition of IBD, aged 14 years or more are included, in five areas of Asturias (Spain) (461,965 inhabitants). RESULTS: For the period 1954 to 1997, 1018 IBD have been diagnosed [565 ulcerative colitis (UC) (55.5%), 415 Crohn's disease (CD) (40.8%) and 38 undefined IBD (IC) (3.7%)]; [482 women (47.2%), 536 males (52.8%)]. In the 4 year-prospective period, 306 cases were collected: 176 UC (57.51%), 110 CD (35.94) and 20 IC (6.53%); UC/CD: 1.6. Without appreciable and significant differences between Frequency of illness groups and sexes. IBD incidence rate (per 100,000 per year) (1954-97) is 5.12 (95% CI = 3.05-7.18) (UC: 2.84; CD: 2.08; IC: 0.19; UC/CD 1.36). In the 4 years- prospective study, IBD incidence rate is 16.55 (95% CI = 12.84-20.25), (UC: 9.52; CD: 5.95; IC: 1.08; UC/CD: 1.6). IBD prevalence rate in 1997 is 205.21 (95% CI = 182.14-227.29), (UC: 109.96; CD: 87.45; IC: 7.79). Comparisons have settled down among the studied areas, without finding differences statistically significant. CONCLUSIONS: Inflammatory Bowel Disease incidence and prevalence rates of in our region are homogeneous between the cities investigated and superior than those historically reported in Spanish studies. These results were similar to those observed in European studies.


Subject(s)
Inflammatory Bowel Diseases/epidemiology , Adolescent , Adult , Aged , Female , Humans , Incidence , Male , Middle Aged , Prevalence , Prospective Studies , Retrospective Studies , Spain
17.
An. med. interna (Madr., 1983) ; 20(1): 3-9, ene. 2003.
Article in Es | IBECS | ID: ibc-17529

ABSTRACT

Objetivo: Conocer y comparar la incidencia y prevalencia de la enfermedad inflamatoria intestinal crónica (EIIC) en 5 áreas del Principado de Asturias (España).Pacientes y métodos: Estudio epidemiológico descriptivo, poblacional, multicéntrico, retrospectivo entre 1954 y 1993 y prospectivo entre 1994 y 1997. Se incluyen todos los enfermos mayores de 14 años, diagnosticados de EIIC según un protocolo estándar para el diagnóstico y definición, en 5 áreas del Principado de Asturias, con un censo de 461.965 habitantes. Resultados: En el periodo de tiempo estudiado, han sido diagnosticados 1018 enfermos con EIIC [565 CU (55,5%), 415 EC (40,8%) y 38 CI (3,7%)]; [482 mujeres (47,2%), 536 varones (52,8%)]. En el periodo de 4 años de estudio prospectivo, se identifican 306 EIIC: 176 CU (57,51%), 110 EC (35,94) y 20 CI (6,53%); CU/EC: 1,6. La frecuencia de aparición de los distintos grupos de enfermedad no presenta diferencias significativas, así como tampoco existen diferencias entre ambos sexos. La tasa de incidencia media anual (1954-97) en EIIC es 5,12 (IC 95% = 3,05 - 7,18) (CU: 2,84; EC: 2,08; CI: 0,19; CU/EC 1,36). En el periodo de tiempo de estudio prospectivo, la tasa de incidencia media anual de la EIIC es 16,55 (IC 95% =12,84 - 20,25), (CU: 9,52; EC: 5,95; CI: 1,08; CU/EC: 1,6). La prevalencia, referida a 1997 para la EIIC es de 205,21 (IC 95% = 182,14227,29), (CU: 109,96; EC: 87,45; CI: 7,79). Se han establecido comparaciones entre las áreas estudiadas, sin encontrar diferencias estadísticamente significativas. Conclusiones: Las tasas brutas de incidencia y de prevalencia de la enfermedad inflamatoria intestinal crónica en nuestro medio son superiores a las históricamente descritas en otras áreas de nuestro país y similares a las publicadas en poblaciones de alta incidencia. No hemos encontrado diferencias significativas entre las cinco áreas que componen el estudio (AU)


Subject(s)
Middle Aged , Adolescent , Adult , Aged , Male , Female , Humans , Spain , Inflammatory Bowel Diseases , Incidence , Prevalence , Retrospective Studies , Prospective Studies
18.
Gastroenterol Hepatol ; 24(5): 228-35, 2001 May.
Article in Spanish | MEDLINE | ID: mdl-11412590

ABSTRACT

AIMS: To determine several aspects of the epidemiology of chronic inflammatory bowel disease (IBD), including distribution of the various forms of IBD, sex, age at diagnosis considering lag-time to diagnosis, criteria used in the diagnosis, the relationship between educational level and activity, familial aggregation, phenotype (site and clinical type), number of admissions and mean hospital stay/year, surgical requirements and mortality. PATIENTS AND METHODS: We carried out a retrospective (1954-1993) and prospective (1994-97) descriptive epidemiologic population study, in the fifth health district of Gijón in Asturias (Spain), with 225,798 inhabitants. A total of 595 patients diagnosed with chronic IBD according to the diagnostic criteria described by Lennard-Jones and Truelove for Crohn's disease (CD) and ulcerative colitis (UC) and according to Ashley B. Price's criteria for indeterminate colitis (IC) were studied. In all patients a complete clinical follow-up was performed. RESULTS: During the study period, we diagnosed 595 patients with IBD [305 patients with UC (51.3%), 272 (45.7%) patients with CD and 18 (3%) with IC]. Sex distribution was 287 females (48.2%) and 308 males (51.8%), with a male/female ratio of 1.07. Mean age at presentation was 38.79 +/- 17.44 years (UC: 43.37 +/- 17.55; CD: 33.98 +/- 16.16; IC: 33.73 +/- 13.48), p = 0.000. Age at onset prior to diagnosis was as follows: UC: 42.03; CD: 30.47; IC: 30.99 (p = 0.000). Diagnostic criteria used in UC was symptomatic in 99.01% (p = ns), endoscopic in 95.04% (p = 0.000), and pathologic in 87.21% (p = 0.000); in CD diagnostic criteria used was radiologic in 85.29% (p = 0.000). A total of 29.1% of patients with UC and 66.7% of those with CD had higher education (p = 0.0005). Family history was found in 9.8%. Anatomical site was as follows: in UC: rectum 21%, 28.2% rectum and sigmoid, 22.3% left colitis, 4.2% distal to hepatic flexure and 24% pancolitis; in CD: 32.72% terminal ileum, 19.11% colon, 37.13% ileo-colon, 11.02% extensive intestinal and 3.67% gastro-duodenal. A total of 8.37% of patients with UC and 14.51% of those with CD had been hospitalized during the previous 4 years; mean hospital stay was 1.63 days in UC and 2.27 days in CD. The mean surgical requirements were 0.54 +/- 1.08 (31.59%); UC: 0.11 +/- 0.36 (10.2%); CD: 1.04 +/- 1.38 (56.25%), p = 0.000. The mortality rate was 48.73 deaths/1,000 inhabitants (UC: T = 65.57; CD: T = 33.08; IC:T= 0) p = ns. The standardized mortality ratio was 4.83 (UC: 6.51; CD: 3.28). CONCLUSIONS: We highlight the uniformity of the distribution of IBD in relation to types of disease and sex. Patients with CD had a higher level of education. Genetic components play an important role in these diseases and familial aggregation was high, especially in CD. Complicated situations are infrequent in this group of patients. Morbidity was higher in patients with CD as reflected by surgical requirements and hospital stay. Mortality was lower in CD than in UC.


Subject(s)
Inflammatory Bowel Diseases/epidemiology , Adolescent , Adult , Age of Onset , Chronic Disease , Educational Status , Female , Follow-Up Studies , Humans , Inflammatory Bowel Diseases/diagnosis , Inflammatory Bowel Diseases/genetics , Inflammatory Bowel Diseases/surgery , Length of Stay , Male , Middle Aged , Phenotype , Prospective Studies , Retrospective Studies , Spain/epidemiology , Survival Analysis
19.
Neurosci Lett ; 301(3): 171-4, 2001 Apr 06.
Article in English | MEDLINE | ID: mdl-11257425

ABSTRACT

We measured the activities of Na(+)K(+) ATPase and of enzymes of the glycolytic pathway, Krebs cycle, and the respiratory chain in cerebral cortex of mice exposed to chronic hypoxia for three weeks and compared their values with those of sea level controls. There were no differences in Na(+)K(+) ATPase activity or in the activity of glycolytic enzymes. In the Krebs cycle, a 66% increase of succinate dehydrogenase activity was found due to a lower Km. In contrast, respiratory chain cytochrome oxidase activity was reduced by 12% in mice exposed to hypoxia. This suggested that the metabolic demand would be satisfied despite the respiratory chain depression (cytochrome oxidase), probably due to anaerobic energy production within the mitochondria (succinate dehydrogenase).


Subject(s)
Cerebral Cortex/metabolism , Energy Metabolism/physiology , Hypoxia, Brain/metabolism , Animals , Chronic Disease , Citric Acid Cycle , Electron Transport , Electron Transport Complex IV/metabolism , Male , Mice , Mitochondria/enzymology , Sodium-Potassium-Exchanging ATPase/metabolism , Succinate Dehydrogenase/metabolism
20.
Pediátrika (Madr.) ; 21(3): 98-100, mar. 2001.
Article in Es | IBECS | ID: ibc-12070
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