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1.
Tech Coloproctol ; 27(11): 1047-1056, 2023 11.
Artículo en Inglés | MEDLINE | ID: mdl-36906661

RESUMEN

PURPOSE: Adequate staging of early rectal neoplasms is essential for organ-preserving treatments, but magnetic resonance imaging (MRI) frequently overestimates the stage of those lesions. We aimed to compare the ability of magnifying chromoendoscopy and MRI to select patients with early rectal neoplasms for local excision. METHODS: This retrospective study in a tertiary Western cancer center included consecutive patients evaluated by magnifying chromoendoscopy and MRI who underwent en bloc resection of nonpedunculated sessile polyps larger than 20 mm, laterally spreading tumors (LSTs) [Formula: see text] 20 mm, or depressed-type lesions of any size (Paris 0-IIc). Sensitivity, specificity, accuracy, and positive and negative predictive values of magnifying chromoendoscopy and MRI to determine which lesions were amenable to local excision (i.e., [Formula: see text] T1sm1) were calculated. RESULTS: Specificity of magnifying chromoendoscopy was 97.3% (95% CI 92.2-99.4), and accuracy was 92.7% (95% CI 86.7-96.6) for predicting invasion deeper than T1sm1 (not amenable to local excision). MRI had lower specificity (60.5%, 95% CI 43.4-76.0) and lower accuracy (58.3%, 95% CI 43.2-72.4). Magnifying chromoendoscopy incorrectly predicted invasion depth in 10.7% of the cases in which the MRI was correct, while magnifying chromoendoscopy provided a correct diagnosis in 90% of the cases in which the MRI was incorrect (p = 0.001). Overstaging occurred in 33.3% of the cases in which magnifying chromoendoscopy was incorrect and 75% of the cases in which MRI was incorrect. CONCLUSION: Magnifying chromoendoscopy is reliable for predicting invasion depth in early rectal neoplasms and selecting patients for local excision.


Asunto(s)
Colonoscopía , Neoplasias del Recto , Humanos , Colonoscopía/métodos , Estudios Retrospectivos , Neoplasias del Recto/diagnóstico por imagen , Neoplasias del Recto/cirugía , Valor Predictivo de las Pruebas , Estadificación de Neoplasias
2.
Braz J Biol ; 82: e268505, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36651460

RESUMEN

Several Piper species accumulate piperamides as secondary metabolites, and although they have relevant biological importance, many details of their biosynthetic pathways have not yet been described experimentally. Experiments involving enzymatic reactions and labeled precursor feeding were performed using the species Piper tuberculatum and Piper arboreum. The activities of the phenylalanine ammonia lyase (PAL) enzymes, which are involved in the general phenylpropanoid pathway, were monitored by the conversion of the amino acid L-phenylalanine to cinnamic acid. The activity of the 4-hydroxylase (C4H) enzyme was also observed in P. tuberculatum by converting cinnamic acid to p-coumaric acid. L-[UL-14C]-phenylalanine was fed into the leaves of P. tuberculatum and incorporated into piperine (1), 4,5-dihydropiperine (2), fagaramide (4), trans-piplartine (7), and dihydropiplartine (9). In P. arboreum, it was only incorporated into the piperamide 4,5-dihydropiperiline (3). L-[UL-14C]-lysine was successfully incorporated into the 4,5-dihydropiperine piperidine group (2), dihydropyridinone, and trans- (7) and cis-piplartine (8). These data corroborate the proposal of mixed biosynthetic origin of piperamides with the aromatic moiety originating from cinnamic acid (shikimic acid pathway) and key amide construction with amino acids as precursors.


Asunto(s)
Lisina , Fenilalanina , Aminoácidos , Fenilalanina/metabolismo , Piper/química
3.
J Laryngol Otol ; 136(10): 975-978, 2022 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-35075988

RESUMEN

OBJECTIVE: Herpes zoster virus can cause inflammatory neuropathy of the facial nerve. However, studies evaluating the prevalence of this agent in peripheral facial palsy are heterogeneous regarding sample group selection, laboratory analysis method and variables studied. In addition, there are a lack of epidemiological data in the Brazilian population on this serological phenomenon in peripheral facial palsy. This study estimated herpes zoster reactivation prevalence in serological samples through chemiluminescence immunoassay for quantitative determination of specific antibodies directed against the virus. METHODS: This cross-sectional study sought to determine the prevalence of viral reactivation by herpes zoster in subjects with idiopathic peripheral facial palsy through analysis of serological samples over a year. RESULTS: Forty-seven patients (32 females and 15 males) participated. Severe paralysis was more common in older patients (p = 0.017). Facial pain (p = 0.02) and vertigo (p = 0.001) were related to a worse evolution of facial palsy. The rate of serological reactivation of the virus was 12.76 per cent. CONCLUSION: The rate of serological reactivation of herpes virus in idiopathic peripheral facial palsy in our population is similar to foreign literature data, suggesting similar aetiological mechanisms in the genesis of this morbidity.


Asunto(s)
Parálisis de Bell , Parálisis Facial , Herpes Zóster , Anciano , Anticuerpos Antivirales , Parálisis de Bell/epidemiología , Estudios Transversales , Parálisis Facial/epidemiología , Femenino , Herpes Zóster/complicaciones , Herpes Zóster/diagnóstico , Herpes Zóster/epidemiología , Herpesvirus Humano 3/fisiología , Humanos , Masculino , Prevalencia
4.
Colorectal Dis ; 13(3): 302-7, 2011 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-19912288

RESUMEN

AIM: To assess the feasibility and outcomes of reoperative laparoscopic-assisted surgery for recurrent Crohn's disease compared with index laparoscopic resections. METHOD: A retrospective analysis of a prospectively maintained database was performed from 2001 to 2008 on patients who had primary laparoscopy (group I) or reoperative laparoscopy for Crohn's disease (group II). Data collection included demographic and surgical data, and postoperative outcomes. RESULTS: One hundred and thirty patients were included in this study, distributed as follows: group I, 80 patients with a mean age of 35 years; and group II, 50 patients with a mean age of 42 years. Preoperative American Society of Anesthesiologists score and body mass index were similar in both groups. Patients in group II had a longer period of disease (15.5 vs 8.9 years in groups I and II, respectively; P = 0.0002). Immunosuppressive therapy had been utilized in 66 (82.5%) and in 42 (84%) patients in groups I and II, respectively. Ileocolic resection was the most commonly performed procedure in both groups (82%), followed by subtotal colectomy. Conversion rates were 18.7 and 32% in groups I and II, respectively (P = 0.09). The mean operative time (182 vs 201 min) and mean blood loss (161 vs 202 ml) were not significantly different (P > 0.05); however, the overall incisional length was significantly longer in group II (6.7 vs 11.4 cm, P = 0.045). A stoma was created in 17 and 16% of patients in groups I and II, respectively. Overall, early postoperative complications were not statistically significantly different between the two groups (P > 0.05); anastomotic leak occurred in four (5%) and one (2%) patients (P = 0.65), and abdominal abscess in three (3.75%) and four (8%) patients (P = 0.56), in groups I and II, respectively. Reoperative rates were 10 and 6% (P = 0.53), and mean hospital stay was similar in groups I and II respectively (6.7 vs 7.5 days, respectively; P = 0.3266). There was no mortality. CONCLUSION: The results of laparoscopic-assisted resection for recurrent Crohn's disease are similar to those for primary resection.


Asunto(s)
Colon/cirugía , Enfermedad de Crohn/cirugía , Íleon/cirugía , Laparoscopía/efectos adversos , Reoperación/efectos adversos , Estomas Quirúrgicos , Absceso Abdominal/etiología , Adulto , Fuga Anastomótica/etiología , Colectomía , Enfermedad de Crohn/complicaciones , Humanos , Laparoscopía/métodos , Masculino , Persona de Mediana Edad , Recurrencia , Reoperación/métodos , Estudios Retrospectivos , Resultado del Tratamiento , Adulto Joven
5.
Colorectal Dis ; 13(2): 177-83, 2011 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-19878516

RESUMEN

AIM: The aim of this study was to review the recent results of ileal pouch-anal anastomosis (IPAA) in elderly patients compared with younger patients. METHOD: Retrospective evaluation was carried out based on a prospective Institutional Review Board approved database of patients who underwent IPAA from 2001 to 2008. Patients aged ≥ 65 years were matched with a group of patients aged < 65 years by gender, date of procedure, diagnosis and type of procedure performed. Preoperative and intra-operative data and early postoperative complications were obtained. RESULTS: Thirty-three patients (22 women), 32 with mucosal ulcerative colitis, were included in each group. The elderly group had a mean age of 68.7 years, body mass index of 27 kg/m², duration of disease of 17.4 years, high American Society of Anesthesiologists (ASA) score and high incidence of comorbid conditions (87.9% had one or more). Dysplasia and carcinoma were the indication for the surgery in more than 50% of patients, followed by refractory disease (24.4%). The matched younger group had a mean age of 36.9 years, body mass index of 25.4 kg/m², shorter duration of disease (8.1 years; P = 0.001), lower ASA score (P = 0.0001) and lower comorbidity (42.4%; P = 0.0002). Operative data were similar for both groups. The elderly group had a higher rate of rehospitalization for dehydration (P = 0.02). Other medical complications (30 vs 27%) and surgical postoperative complications (33 vs 24%) were similar for both groups. The long-term function and complications were comparable for the groups. CONCLUSION: Elderly patients who underwent IPAA had more comorbid conditions than younger patients. Except for rehospitalization for dehydration, medical and surgical postoperative complications were not different in the two groups.


Asunto(s)
Canal Anal/cirugía , Colitis Ulcerosa/cirugía , Reservorios Cólicos , Adulto , Factores de Edad , Anciano , Anastomosis Quirúrgica , Comorbilidad , Deshidratación/complicaciones , Femenino , Humanos , Masculino , Persona de Mediana Edad , Readmisión del Paciente , Complicaciones Posoperatorias , Estudios Retrospectivos , Resultado del Tratamiento
6.
Colorectal Dis ; 13(5): 555-60, 2011 May.
Artículo en Inglés | MEDLINE | ID: mdl-20070344

RESUMEN

AIM: We evaluated the impact of immunosuppressive drugs on the short-term outcome following loop ileostomy closure in patients with inflammatory bowel disease. METHOD: Data on 249 patients with inflammatory bowel disease, who underwent loop ileostomy closure from 2001 to 2008, were retrospectively reviewed from a prospectively maintained database. Patients were distributed among groups according to the inflammatory bowel disease drugs used. Comorbidity, diagnosis, intra-operative and postoperative morbidity and length of stay data were analysed. Patients in group (INF) were receiving infliximab with or without other immunosuppressive agents (28), patients in group (S) were receiving only steroids (72) and those, in group III (S&I) were on steroids plus immunosuppressive agents, other than infliximab (35). Patients in group (ND) had not received any immunosuppressive agents for 2 months and served as the control group (114). RESULTS: Postoperative complication rates (wound infection, hernia, obstruction, intra-abdominal abscess, leakage, enterocutaneous fistula and sepsis) occured in 4.0, 12.0, 14 and 17.0% of patients in the four groups (P > 0.05). Reoperation was needed in 3.0% (2) of patients in group S, 6.0% (2) in S&I and 3.0% (3) in C groups, and the mean hospital stay was 4.6 (± 2.1), 5.6 (± 4.6), 5.2 (± 4.7) and 5.2 (± 6) days in groups INF, S, S&I and ND, respectively. There was no mortality. CONCLUSION: There were no significantly increased postoperative complications after ileostomy closure in patients who received infliximab or other immunosuppressive medications compared with patients who did not.


Asunto(s)
Antiinflamatorios/uso terapéutico , Anticuerpos Monoclonales/uso terapéutico , Colitis Ulcerosa/tratamiento farmacológico , Enfermedad de Crohn/tratamiento farmacológico , Ileostomía , Complicaciones Posoperatorias , Corticoesteroides/uso terapéutico , Adulto , Colitis Ulcerosa/cirugía , Enfermedad de Crohn/cirugía , Quimioterapia Combinada , Femenino , Humanos , Inmunosupresores/uso terapéutico , Infliximab , Tiempo de Internación , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Resultado del Tratamiento
7.
Colorectal Dis ; 13(3): 317-22, 2011 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-19906053

RESUMEN

AIM: Chagas' disease is an endemic parasitosis found in Latin America. The disease affects different organs, such as heart, oesophagus, colon and rectum. Megacolon is the most frequent long-term complication, caused by damage to the myoenteric and submucous plexus, ultimately leading to a functional barrier to the faeces. Patients with severe constipation are managed surgically. The study aimed to analyse the 10-year minimum functional outcome after rectosigmoidectomy with posterior end-to-side anastomosis (RPESA). METHOD: A total of 21 of 46 patients were available for follow up. Patients underwent clinical, radiological and manometric evaluation, and the results were compared with preoperative parameters. RESULTS: Of the 21 patients evaluated, 81% (17) were female, with a mean age of 60.6 years. Good function was achieved in all patients, with significant improvement in defaecatory frequency (P < 0.0001), usage of enemas (P < 0.0001) and patient satisfaction. Barium enema also showed resolution of the colonic and rectal dilatation in 19 cases evaluated postoperatively. CONCLUSION: Minimal 10-year follow up of RPESA showed excellent functional results, with no recurrence of constipation.


Asunto(s)
Enfermedad de Chagas/complicaciones , Colon Sigmoide/cirugía , Procedimientos Quirúrgicos del Sistema Digestivo/métodos , Megacolon/cirugía , Recto/cirugía , Adulto , Anciano , Canal Anal/fisiología , Anastomosis Quirúrgica/efectos adversos , Anastomosis Quirúrgica/métodos , Colon/anatomía & histología , Colon/diagnóstico por imagen , Estreñimiento/cirugía , Defecación , Femenino , Estudios de Seguimiento , Humanos , Laxativos/uso terapéutico , Masculino , Manometría , Megacolon/etiología , Megacolon/parasitología , Persona de Mediana Edad , Radiografía , Factores de Tiempo , Resultado del Tratamiento , Adulto Joven
8.
Tech Coloproctol ; 14(2): 181-4, 2010 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-20309715

RESUMEN

"Collision tumors" consist of two independent but coexisting tumors. This uncommon situation might be easily mistaken for a composite tumor where one histogenetic event originates from two apparently distinct neoplasms. Colorectal collisions are particularly unusual; here, we report the exceedingly rare case of a 61-year-old man with malignant melanoma and adenocarcinoma colliding in the rectum. Collision tumors have an idiopathic pathophysiology and in fact "accidental meeting" is accepted by many authors. This article discusses the concepts about cancer development, which are overlooked by this hypothesis, another theory to explain that this rare occurrence involves microenvironment changes.


Asunto(s)
Adenocarcinoma/patología , Melanoma/patología , Neoplasias Primarias Múltiples/patología , Neoplasias del Recto/patología , Adenocarcinoma/etiología , Adenocarcinoma/fisiopatología , Humanos , Masculino , Melanoma/etiología , Melanoma/fisiopatología , Persona de Mediana Edad , Neoplasias Primarias Múltiples/etiología , Neoplasias Primarias Múltiples/fisiopatología , Neoplasias del Recto/etiología , Neoplasias del Recto/fisiopatología
9.
Rev Gastroenterol Mex (Engl Ed) ; 85(2): 180-189, 2020.
Artículo en Inglés, Español | MEDLINE | ID: mdl-32057523

RESUMEN

INTRODUCTION AND AIM: Surgery for distal rectal cancer (DRC) can be performed with or without sphincter preservation. The aim of the present study was to analyze the outcomes of two surgical techniques in the treatment of DRC patients: low anterior resection (LAR) and abdominoperineal resection (APR). METHODS: Patients with advanced DRC that underwent surgical treatment between 2002 and 2012 were evaluated. We compared the outcomes of the type of surgery (APR vs LAR) and analyzed the associations of survival and recurrence with the following factors: age, sex, tumor location, lymph nodes obtained, lymph node involvement, and rectal wall involvement. Patients with distant metastases were excluded. RESULTS: A total of 148 patients were included, 78 of whom were females (52.7%). The mean patient age was 61.2years. Neoadjuvant chemoradiation therapy was performed in 86.5% of the patients. APR was performed on 86 (58.1%) patients, and LAR on 62 (41.9%) patients. No differences were observed between the two groups regarding clinical and oncologic characteristics. Eighty-seven (62%) patients had pT3-4 disease, and 41 patients (27.7%) had lymph node involvement. In the multivariate analysis, only poorly differentiated tumors (P=.026) and APR (P=.009) correlated with higher recurrence rates. Mean follow-up time was 32 (16-59.9) months. Overall 5-year survival was 58.1%. The 5-year survival rate was worse in patients that underwent APR (46.5%) than in the patients that underwent LAR (74.2%) (P=.009). CONCLUSIONS: Patients with locally advanced DRC that underwent APR presented with a lower survival rate and a higher local recurrence rate than patients that underwent LAR. In addition, advanced T/stage, lymph node involvement, and poor tumor differentiation were associated with recurrence and a lower survival rate, regardless of the procedure.


Asunto(s)
Colon Sigmoide/cirugía , Proctectomía , Neoplasias del Recto/cirugía , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Estudios de Seguimiento , Hospitales Universitarios , Humanos , Masculino , Persona de Mediana Edad , Recurrencia Local de Neoplasia , Neoplasias del Recto/mortalidad , Neoplasias del Recto/patología , Estudios Retrospectivos , Análisis de Supervivencia , Resultado del Tratamiento
10.
Biochim Biophys Acta ; 1255(1): 16-22, 1995 Mar 02.
Artículo en Inglés | MEDLINE | ID: mdl-7893733

RESUMEN

Surfactant protein C (SP-C) is a small hydrophobic protein that is synthesized and secreted by alveolar type II cells. The mechanism of clearance of SP-C from the alveolar airspace is not well understood, although previous studies demonstrated that recombinant SP-C instilled into the lungs of spontaneously breathing anaesthetized rats was taken up by type II cells and incorporated into lamellar bodies. The current investigation was undertaken to characterize the interaction of a complex of SP-C and surfactant-like lipids with freshly isolated rat alveolar type II cells under conditions in which the extracellular milieu can be regulated. SP-C was isolated from alveolar proteinosis lavage fluid and radiolabeled with 125I-Bolton-Hunter reagent. The radiolabeled protein retained its ability to facilitate adsorption of phospholipids to an air/liquid interface. Labeled human SP-C associated with isolated type II cells in a concentration-dependent manner that was also dependent upon temperature and time. The association of labeled SP-C with isolated type II cells did not saturate up to 150 micrograms/ml. SP-A significantly enhanced the association of SP-C with isolated type II cells. Under the experimental conditions tested, SP-C was not degraded to TCA-soluble products. These results are consistent with the hypothesis that association or uptake of SP-C by type II cells may be enhanced by SP-A and that like SP-A, SP-C is recycled by type II cells.


Asunto(s)
Macrófagos Alveolares/metabolismo , Proteolípidos/metabolismo , Surfactantes Pulmonares/metabolismo , Animales , Radioisótopos de Yodo , Masculino , Proteína A Asociada a Surfactante Pulmonar , Proteínas Asociadas a Surfactante Pulmonar , Ratas , Ratas Sprague-Dawley
11.
Biochim Biophys Acta ; 965(2-3): 163-8, 1988 May 12.
Artículo en Inglés | MEDLINE | ID: mdl-3130106

RESUMEN

Cellulose-acetate gel electrophoresis, a technique commonly used for the separation of human acid hydrolases, was applied to study heterogeneity in acid beta-glucosidase (EC 3.2.1.45). With this technique, three forms of beta-glucosidase were distinguishable in extracts of several tissues. The most anodic beta-glucosidase activity (band 3) represents the broad-specificity beta-glucosidase that is not deficient in Gaucher disease and is not inhibited by conduritol B-epoxide (CBE). The beta-glucosidase activity was deficient in Gaucher disease. A third beta-glucosidase activity with an intermediate mobility (band 2) was also inhibited by CBE and deficient in Gaucher disease. Band 1 and band 2 beta-glucosidase thus represent different forms of glucocerebrosidase. By adding phosphatidylserine and sphingolipid activator protein (SAP-2), monomeric glucocerebrosidase could be completely converted into a form that comigrated with band 2 beta-glucosidase of tissue extracts. The addition of phosphatidylserine only also resulted in a changed mobility of the monomeric enzyme, but the migration in this case differed from that of band 2 beta-glucosidase of tissue extracts. The electrophoretic profile of beta-glucosidase activity of tissue extracts changed upon ethanol/chloroform extraction: the two glucocerebrosidase forms were converted into a band with a mobility identical to that of band 1 beta-glucosidase. Our findings indicate that the interaction of glucocerebrosidase with phospholipid and SAP-2 has major effects on the mobility of the enzyme in the cellulose-acetate gel electrophoresis system. The findings with the cellulose-acetate gel electrophoretic system are discussed in relation to the heterogeneity in glucocerebrosidase observed with sucrose density gradient analysis, immunochemical methods and isoelectric focussing studies.


Asunto(s)
Electroforesis en Acetato de Celulosa , Electroforesis , Enfermedad de Gaucher/enzimología , Glucosidasas/análisis , beta-Glucosidasa/análisis , Femenino , Fibroblastos/enzimología , Glucosilceramidasa/análisis , Glucosilceramidasa/metabolismo , Glicoproteínas/farmacología , Humanos , Inositol/análogos & derivados , Inositol/farmacología , Punto Isoeléctrico , Riñón/enzimología , Leucocitos/enzimología , Hígado/enzimología , Fosfatidilserinas/farmacología , Placenta/enzimología , Embarazo , Saposinas , Solventes , Proteínas Activadoras de Esfingolípidos , Bazo/enzimología , Ácido Taurocólico/farmacología , beta-Glucosidasa/antagonistas & inhibidores , beta-Glucosidasa/metabolismo
12.
J Appl Physiol (1985) ; 74(3): 1005-11, 1993 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-8482637

RESUMEN

Previous studies have provided evidence that a large proportion of secreted surfactant lipids is taken up from the alveolar air space by type II cells, incorporated into lamellar bodies, and resecreted. Our goal was to characterize the clearance of exogenously administered recombinant surfactant protein C (SP-C) and to determine if SP-C is taken up by type II cells and incorporated into lamellar bodies. SP-C was radiolabeled by alkylation with [3H]iodoacetic acid and retained its ability to enhance phospholipid adsorption to an air-liquid interface. A mixture of 100 micrograms phospholipid radiolabeled with [14C]dipalmitoylphosphatidylcholine and 10 micrograms SP-C was instilled into the lungs of spontaneously breathing anesthetized adult rats. At later times, the lungs were lavaged and subcellular organelles were isolated. The radioactivity of both phospholipids and SP-C (expressed as disintegrations per minute per microgram phospholipid) in lamellar body fractions increased up to 4 h postinstillation and began to decline after approximately 4 h. The results of this study suggest that SP-C and dipalmitoylphosphatidylcholine are taken up promptly from the alveolar air space and are incorporated into lamellar bodies with time courses that do not differ greatly.


Asunto(s)
Pulmón/metabolismo , Proteolípidos/metabolismo , Surfactantes Pulmonares/metabolismo , 1,2-Dipalmitoilfosfatidilcolina/metabolismo , Secuencia de Aminoácidos , Animales , Líquido del Lavado Bronquioalveolar/metabolismo , Humanos , Yodoacetatos/metabolismo , Ácido Yodoacético , Marcaje Isotópico , Masculino , Datos de Secuencia Molecular , Fosfolípidos/metabolismo , Proteolípidos/farmacocinética , Alveolos Pulmonares/metabolismo , Surfactantes Pulmonares/farmacocinética , Ratas , Ratas Sprague-Dawley , Proteínas Recombinantes/metabolismo , Proteínas Recombinantes/farmacocinética , Fracciones Subcelulares/metabolismo
13.
Clin Chim Acta ; 285(1-2): 45-51, 1999 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-10481922

RESUMEN

Here we report the determination of the activation energies of the plasma isoenzymes of beta-N-acetylhexosaminidase (Hex, EC 3.2.1.52), isolated by chromatography in DEAE-cellulose, using the neutral chromogenic substrate 3,3'dichlorophenylsulfonphthaleinyl-N-acetyl-beta-D-glucosaminide. The activation energy of mutated Hex A isoenzyme (Ea approximately 71.5 kJ/mol) from a patient with GM2-gangliosidosis B1 variant, homozygote for the G533-->A (Arg178His) mutation, was significantly higher than that of normal Hex A (Ea approximately 41.8 kJ/mol) and analogous to that of Hex B isoenzyme (Ea approximately 75.1 kJ/mol). The determination of this thermodynamic variable of Hex in different biological specimens could allow for a straightforward biochemical characterisation of the GM2-gangliosidosis B1 variant.


Asunto(s)
Gangliosidosis/enzimología , Isoenzimas/metabolismo , Mutación Puntual , beta-N-Acetilhexosaminidasas/metabolismo , Niño , Cromatografía DEAE-Celulosa , Femenino , Gangliosidosis/genética , Hexosaminidasa A , Hexosaminidasa B , Homocigoto , Humanos , Isoenzimas/genética , Termodinámica , beta-N-Acetilhexosaminidasas/genética
14.
J Clin Pediatr Dent ; 18(1): 7-11, 1993.
Artículo en Inglés | MEDLINE | ID: mdl-8110615

RESUMEN

The effect of different time periods of polishing, after debonding orthodontic brackets, upon enamel surface was investigated. Nine brackets were bonded onto nine healthy human teeth, extracted for severe periodontal disease. The brackets were removed after twenty-four hours and the composite was removed from the dental surface with a tungsten carbide bur. Three of these teeth were polished with a rubber cup, pumice and water for 30 seconds. Three others had the same procedure for 10 seconds and the last group did not received any polishing. The three groups were examined at the Scanning Electron Microscope and compared with the sound enamel of the same teeth. The results showed that pumicing is necessary after debracketing, although, even after 30 seconds of polishing, composite is still found on the enamel surface. The three procedures did not provide a surface equal to the sound enamel, but better results were obtained by increasing polishing time.


Asunto(s)
Desconsolidación Dental , Esmalte Dental/ultraestructura , Profilaxis Dental/métodos , Soportes Ortodóncicos , Humanos , Microscopía Electrónica de Rastreo , Silicatos , Propiedades de Superficie
16.
Artículo en Inglés | MEDLINE | ID: mdl-16006160

RESUMEN

The isolation, purification and characterization of Anodonta cygnea haemolymph, and extrapallial fluid glycosaminoglycans (Gags), which have high calcium affinity, were carried out in order to better understand the process of nacreous shell biomineralization. Our results show the existence of two different Gags with similar contents in the two fluids, throughout the year, but with significant seasonal variations for both. In the winter months, we identified by electrophoresis, only one kind of Gag chain (hyaluronic acid) while two different Gags (hyaluronic acid and heparan sulphate-like) from both fluids of A. cygnea were found in summer months. Quantification showed the total Gag fractions of both fluids in average, at their highest concentration (79.8 mg/L) in the highest calcification summer period. In contrast, the period of the year with the lowest concentration of total Gags (54.6 mg/L) occurred during the winter when calcification is reduced. This significant decrease between seasons is correlated mainly with the sulphated fraction, being 37.1 mg/L in the summer while only 9.2 mg/L in the winter haemolymph. The present data suggest that a heparan sulphate-like Gag has a relevant role in the biomineralization mechanisms acting as the calcium carbonate nucleator in the shell.


Asunto(s)
Calcificación Fisiológica , Glicosaminoglicanos/química , Glicosaminoglicanos/aislamiento & purificación , Hemolinfa/química , Moluscos/metabolismo , Animales , Líquido Extracelular/química , Glicosaminoglicanos/metabolismo , Heparitina Sulfato/química , Ácido Hialurónico/química , Estaciones del Año
17.
J Inherit Metab Dis ; 14(5): 715-20, 1991.
Artículo en Inglés | MEDLINE | ID: mdl-1838125

RESUMEN

GM2-gangliosidosis B1 variant is thought to be a rare disorder with a wide geographical and ethnic distribution. We report the biochemical findings obtained in different specimens from a group of 11 B1 variant patients originating from the north of Portugal. The biochemical data obtained seem to indicate that only one of these patients is a genetic compound presenting a clinical and biochemical pattern similar to the majority of B1 variant patients described in the literature, but somewhat different from the profile presented by the other patients reported here, who are homozygous for the 'DN-allele'.


Asunto(s)
Gangliósido G(M2) , Gangliosidosis/enzimología , beta-N-Acetilhexosaminidasas/metabolismo , Acetilglucosamina/análogos & derivados , Acetilglucosamina/metabolismo , Niño , Preescolar , Electroforesis en Acetato de Celulosa , Fibroblastos/enzimología , Gangliosidosis/genética , Variación Genética , Heterocigoto , Homocigoto , Humanos , Himecromona/análogos & derivados , Himecromona/metabolismo , Leucocitos/enzimología , Linfocitos/enzimología , Portugal
18.
Biochem Med Metab Biol ; 49(1): 97-107, 1993 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-8439454

RESUMEN

We report the study of 16 catholic type 1 Gaucher disease patients originating from a well-defined region in the north of Portugal where a relatively high incidence is observed. The patients were screened for mutations: 3060G-->A, 5841A-->G, 5976C-->G, and 6433T-->C, which enabled the identification of 27 of the 32 mutated alleles. Four different genotypes were identified, namely 5841G/6433C (n = 6), 5841G/5841G (n = 5), 5841G/? (n = 4), and 6433C/? (n = 1). All but one of the patients carried at least one 5841G mutated allele, making its frequency 62.5%, which is similar to that described for Ashkenazi Jewish patients. The 5841G homozygotes presented an overall milder clinical profile, whereas no clear genotype/phenotype correlation could be established for heterozygous patients. On the basis of residual glucocerebrosidase activity, no distinction could be made between 5841G homozygotes and 5841G/6433C compound heterozygotes. Patients that had at least one 5841G allele (encoding the Ser 370 mutated enzyme) all presented a cell-type-specific residual glucocerebrosidase activity as well as an increased molecular activity when measured in the presence of the physiological activators.


Asunto(s)
Enfermedad de Gaucher/genética , Adolescente , Adulto , Anciano , Alelos , Secuencia de Bases , Niño , Preescolar , Femenino , Enfermedad de Gaucher/enzimología , Genotipo , Glucosilceramidasa/genética , Glucosilceramidasa/metabolismo , Humanos , Concentración de Iones de Hidrógeno , Masculino , Persona de Mediana Edad , Datos de Secuencia Molecular , Mutación
19.
Clin Chem Lab Med ; 37(7): 765-9, 1999 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-10510735

RESUMEN

The urinary isoenzymes of beta-N-acetylhexosaminidase (Hex) in newborn infants were characterised by chromatography, electrophoresis, thermodynamic analysis and through substrate specificity. No qualitative difference was found for the major Hex A and Hex B isoenzymes between full-term or premature newborns and adults, although in the latter group the relative proportion of Hex B is much lower (18.5 +/- 2.7% vs. 36.3 +/- 1.0%). An additional minor enzyme form was found in some premature newborns, which eluted from the DEAE-cellulose column at a higher concentration of NaCl than Hex A and, like this isoenzyme, is able to hydrolyse 4-methylumbellipheryl-2-acetamido-2-deoxy-beta-D-glucopyranoside-6 -sulphate, which would suggest that it has alpha subunits in its molecule. These results do not confirm the hypothesis of other authors about the existence of a unique fetal Hex isoenzyme in neonatal urine which eluted before the application of the NaCl gradient, similarly to the Hex B.


Asunto(s)
Recién Nacido/orina , beta-N-Acetilhexosaminidasas/orina , Adulto , Cromatografía DEAE-Celulosa , Electroforesis , Hipoxia Fetal/orina , Hexosaminidasa A , Hexosaminidasa B , Humanos , Recien Nacido Prematuro/orina , Isoenzimas/orina
20.
J Med Genet ; 33(4): 341-3, 1996 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-8730294

RESUMEN

Mutations in the hexosaminidase A gene (HEXA) causing the B1 variant of GM2-gangliosidosis result in the presence of a mutant enzyme protein with a catalytically defective alpha subunit. A rare and panethnically distributed mutation, transition G533A (Arg178His), is known to be a common allele among Portuguese patients with the subacute phenotype. We now report the presence of an Arg178His allele in three Portuguese sibs with a chronic form of the disease, who carry the transition G755A (Arg252His) on the second allele. This novel mutation is the first B1 allele to be associated with an adult phenotype.


Asunto(s)
Gangliosidosis/genética , beta-N-Acetilhexosaminidasas/genética , Adulto , Alelos , Secuencia de Aminoácidos/genética , Arginina/genética , Análisis Mutacional de ADN , Gangliósido G(M2) , Gangliosidosis/enzimología , Gangliosidosis/fisiopatología , Hexosaminidasa A , Histidina/genética , Humanos , Datos de Secuencia Molecular , Linaje , Fenotipo , Reacción en Cadena de la Polimerasa , Polimorfismo Conformacional Retorcido-Simple , Portugal
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