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1.
Med Oral Patol Oral Cir Bucal ; 24(3): e373-e378, 2019 May 01.
Artículo en Inglés | MEDLINE | ID: mdl-31041916

RESUMEN

BACKGROUND: The aim of this study was to describe the clinicopathological characteristics of 43 intraoral lipomas and classify them according to their microscopic variants. MATERIAL AND METHODS: All the cases of intraoral lipomas diagnosed at an Oral Pathology service were selected for the study. Clinical data, such as age, gender, location, time of evolution, clinical presentation, clinical hypothesis of diagnosis, and treatment, were collected from the clinical files. RESULTS: Of the 43 cases analyzed, 24 (55.8%) occurred in women. The mean age was 77.4 years. The most affected site was the buccal mucosa (22 cases, 51.1%). The mean lesion size was 1.7 cm. Twenty-three cases (53.5%) were classified as simple lipoma, 14 (32.6%) as fibrolipoma, four (9.3%) as spindle cell/pleomorphic lipoma (SC/PL), one (2.3%) as lipoma of the salivary glands, and one (2.3%) as intramuscular lipoma. In one case of SC/PLs, lipoblasts were observed. No atypical lipoblasts or mitoses were noted. Lipoma was considered more often than other tumor histological subtypes among the clinical hypotheses of diagnosis when the final diagnosis was simple lipoma (p=0.01). CONCLUSIONS: Intraoral lipomas present different clinical presentation depending on the histological subtype. In SC/PLs, lipoblasts with vacuolated cytoplasm may be found and the presence of mature adipocytes is essential for diagnosis.


Asunto(s)
Lipoma , Enfermedades de la Lengua , Anciano , Femenino , Humanos , Mucosa Bucal
2.
Clin Genet ; 83(5): 422-31, 2013 May.
Artículo en Inglés | MEDLINE | ID: mdl-22909335

RESUMEN

Valosin containing protein (VCP) disease associated with inclusion body myopathy, Paget disease of the bone and frontotemporal dementia is a progressive autosomal dominant disorder caused by mutations in Valosin containing protein gene. To establish genotype-phenotype correlations we analyzed clinical and biochemical markers from a database of 190 members in 27 families harboring 10 missense mutations. Individuals were grouped into three categories: symptomatic, presymptomatic carriers and noncarriers. The symptomatic families were further divided into ten groups based on their VCP mutations. There was marked intra and inter-familial variation; and significant genotype-phenotype correlations were difficult to establish because of small numbers. Nevertheless when comparing the two most common mutations, R155C mutation was found to be more severe, with an earlier onset of myopathy and Paget (p = 0.03). Survival analysis of all subjects revealed an average life span after diagnosis of myopathy and Paget of 18 and 19 years respectively, and after dementia only 6 years. R155C had a reduced survival compared to the R155H mutation (p = 0.03).We identified amyotrophic lateral sclerosis (ALS) was diagnosed in 13 individuals (8.9%) and Parkinson's disease in five individuals (3%); however, there was no genotypic correlation. This study represents the largest dataset of patients with VCP disease and expands our understanding of the natural history and provides genotype-phenotype correlations in this unique disease.


Asunto(s)
Adenosina Trifosfatasas/genética , Proteínas de Ciclo Celular/genética , Demencia Frontotemporal/complicaciones , Estudios de Asociación Genética , Miositis por Cuerpos de Inclusión/complicaciones , Miositis por Cuerpos de Inclusión/genética , Osteítis Deformante/complicaciones , Adenosina Trifosfatasas/metabolismo , Adulto , Anciano , Biopsia , Proteínas de Ciclo Celular/metabolismo , Electromiografía , Exones , Femenino , Demencia Frontotemporal/diagnóstico , Demencia Frontotemporal/mortalidad , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Músculo Esquelético/patología , Mutación , Miositis por Cuerpos de Inclusión/diagnóstico , Miositis por Cuerpos de Inclusión/mortalidad , Conducción Nerviosa , Osteítis Deformante/diagnóstico , Osteítis Deformante/mortalidad , Proteína que Contiene Valosina , Adulto Joven
3.
Protein Sci ; 7(8): 1789-95, 1998 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-10082376

RESUMEN

Hydrophilic to hydrophobic mutations have been made at 11 solvent exposed sites on the surface of iso-1-cytochrome c. Most of these mutations involve the replacement of lysine with methionine, which is nearly isosteric with lysine. Minimal perturbation to the native structure is expected, and this expectation is confirmed by infrared amide I spectroscopy. Guanidine hydrochloride denaturation studies demonstrate that these variants affect the magnitude of the m-value, the rate of change of free energy with respect to denaturant concentration, to different degrees. Changes in m-values are indicative of changes in the equilibrium folding mechanism of a protein. Decreases in m-values are normally thought to result either from an increased population of intermediates during unfolding or from a more compact denatured state. When cytochrome c is considered in terms of its thermodynamic substructures, the changes in the m-value for a given variant appear to depend upon the substructure in which the mutation is made. These data indicate that the relative stabilities and physical properties of substructures of cytochrome c play an important determining role in the equilibrium folding mechanism of this protein.


Asunto(s)
Grupo Citocromo c/química , Citocromos c , Guanidina/química , Ácido Clorhídrico/química , Proteínas de Saccharomyces cerevisiae , Dicroismo Circular , Metionina/química , Modelos Moleculares , Estructura Molecular , Mutagénesis , Pliegue de Proteína , Solventes/química , Análisis Espectral , Electricidad Estática , Termodinámica
4.
Clin Exp Hypertens ; 18(6): 773-91, 1996 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-8842563

RESUMEN

We tested the hypothesis as to whether elevated arterial pressure in hypertension alters cGMP, or cAMP, mediated vasorelaxation. Relaxation to nitroglycerin and isoproterenol was determined in isolated aortic rings from one-kidney, one clip hypertensive (1K1C), coarctation hypertensive (CH) and normotensive control (C) rats. Thoracic aortas from 1K1C and CH rats, as well as abdominal aortas from 1K1C rats, but not abdominal aortas from CH rats were exposed chronically (4-6 weeks) to elevated arterial pressure. Sensitivity of rings with and without endothelium to nitroglycerin was suppressed significantly only in vessels exposed chronically to high arterial pressure. Impaired sensitivity to nitroglycerin in abdominal rings from 1K1C rats could not be abolished by exposure to 100 uM L-arginine, the substrate for production of NO by endothelial nitric oxide synthase, or 100 uM L-cysteine, the source of thiol groups required for the production of nitric oxide from nitroglycerin. Maximum relaxation to isoproterenol was impaired significantly in thoracic and abdominal rings, with and without endothelium, from 1K1C and CH rats. Relaxation to 8-bromo-cGMP and dibutyryl cAMP was similar in abdominal rings from all groups. We conclude that impaired vasorelaxation to nitroglycerin and isoproterenol in hypertension involves mechanisms prior to activation of vascular smooth muscle cGMP-dependent and cAMP-dependent protein kinase, respectively. Impaired cGMP, but not cAMP, mediated relaxation of aortas appears to result from their exposure to high arterial pressure per se. This effect does not appear to involve the vascular endothelium or vascular sources of thiols, but rather may reflect an effect of high arterial pressure to impair the ability of the artery to respond to nitric oxide derived from nitroglycerin.


Asunto(s)
Presión Sanguínea/fisiología , AMP Cíclico/fisiología , GMP Cíclico/fisiología , Hipertensión Renovascular/fisiopatología , Vasodilatación/fisiología , Animales , Aorta Abdominal/efectos de los fármacos , Aorta Abdominal/fisiopatología , Aorta Torácica/efectos de los fármacos , Aorta Torácica/fisiopatología , Bucladesina/farmacología , GMP Cíclico/análogos & derivados , GMP Cíclico/farmacología , Técnicas In Vitro , Isoproterenol/farmacología , Óxido Nítrico/farmacología , Óxido Nítrico/fisiología , Nitroglicerina/farmacología , Ratas , Ratas Sprague-Dawley , Vasodilatación/efectos de los fármacos
5.
Ann Neurol ; 36(2): 247-51, 1994 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-8053665

RESUMEN

A large collection of potentially valuable materials compiled by the late Dr Derek Denny-Brown is described. This consists of 2,200 films of monkeys with central nervous system lesions, associated behavior and neuropathological descriptions, and histological slides. There are also 500 films of patients with a wide assortment of diseases, including some not currently seen, like postencephalitic parkinsonism. This description will enable contemporary researchers to utilize this collection in their research and teaching programs.


Asunto(s)
Enfermedades del Sistema Nervioso Central/historia , Animales , Enfermedades del Sistema Nervioso Central/patología , Haplorrinos , Historia del Siglo XX , Humanos , Películas Cinematográficas
6.
World Health Forum (WHO) ; 8(1): 75-79, 1987.
Artículo en Inglés, Francés | PAHO | ID: pah-14689

RESUMEN

A confidential inquiry ito maternal deaths in Jamaica revealed that almost two-thirds were attributable to pre-eclampsia/eclampsia, haemorrhage, rupture ectopic pregnancy, or sepsis. Avoidable factors that might have increased the probability of death were identified, and recommendations aimed at reducing maternal mortality were presented


Asunto(s)
Mortalidad Materna , Jamaica
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