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1.
Clin Neurol Neurosurg ; 237: 108159, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38354426

RESUMO

PURPOSE: To identify patients with adult-onset temporal lobe epilepsy (TLE) at risk of developing cognitive decline. Detecting which patients, aetiologies, or factors are most closely related with memory decline would allow us to identify patients that would eventually benefit from more specific treatment. METHODS: Single centre, retrospective analysis of a prospectively followed-up cohort study, including all patients with the diagnosis of adult-onset TLE during 2013, with a minimum follow-up of five years. Memory and cognitive decline were analysed at 5 years and at last follow-up. RESULTS: Of 89 initially selected patients, 71 were included. After 5 years, 11/71 (15.5%) patients suffered cognitive decline, of which 1/71 (4%) developed dementia. At last follow-up (range 65-596 m) a total of 34/71 (47.8%) patients were diagnosed with cognitive decline, specifically either memory decline or dementia. Cognitive decline at 5 years was related to: 1. Age at onset: 62.65 years (SD 9.04) in the group with cognitive decline vs 50.33 y. (SD 13.02 in the group without cognitive decline; p=0.004); 2. Onset as status epilepticus (3/6 in patients with memory decline vs 8/65 in patients without cognitive decline; p=0.04); 3. Immune aetiology: 42% compared with unknown (10%) and structural (10%) aetiologies; p=0.036; 4. Hippocampal sclerosis on MRI: 5/11 patients with cognitive decline vs 9/51 patients without cognitive decline; p=0.035. Cognitive decline was not related to seizure frequency, sex, or age (p=0.78; p=0.40; p=0.95, respectively). CONCLUSIONS: Older age at epilepsy onset, onset as status epilepticus, immune aetiology, and hippocampal sclerosis are risk factors for developing cognitive decline in patients with adult-onset temporal lobe epilepsy.


Assuntos
Disfunção Cognitiva , Demência , Epilepsia do Lobo Temporal , Esclerose Hipocampal , Estado Epiléptico , Adulto , Humanos , Pessoa de Meia-Idade , Epilepsia do Lobo Temporal/epidemiologia , Epilepsia do Lobo Temporal/etiologia , Estudos de Coortes , Estudos Retrospectivos , Disfunção Cognitiva/epidemiologia , Disfunção Cognitiva/etiologia , Transtornos da Memória
2.
Clin Chim Acta ; 438: 67-9, 2015 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-25110815

RESUMO

BACKGROUND: The presence of oligoclonal IgM bands (OCMB) in cerebrospinal fluid (CSF) is an unfavourable prognostic marker in multiple sclerosis. There is no commercial test to investigate OCMB status. However, a sensitive and specific isoelectrofocusing (IEF) and western blot method was described. We aimed to study the inter-centre reproducibility of this technique, a necessary condition for a reliable test to be incorporated into clinical practice. METHODS: The presence of OCMB was analysed by IEF and western blot with prior reduction of pentameric IgM. We assayed the reproducibility of this test in a blinded multicentre study performed in 13 university hospitals. Paired-CSF and serum samples from 52 neurological patients were assayed at every centre. RESULTS: Global analysis rendered a concordance of 89.8% with a kappa value of 0.71. CONCLUSION: These data indicate that OCMB detection by means of IEF and western blot with IgM reduction shows a good interlaboratory reproducibility and thus can be used in daily clinical setting.


Assuntos
Imunoglobulina M/líquido cefalorraquidiano , Western Blotting , Humanos , Limite de Detecção , Reprodutibilidade dos Testes , Espanha
3.
Cir. mayor ambul ; 19(1): 7-10, ene.-mar. 2014.
Artigo em Espanhol | IBECS | ID: ibc-154804

RESUMO

Introducción: El empleo de mallas confeccionadas con materiales parcialmente reabsorbibles y un diseño que permite que se fijen al tejido sin suturas se plantea como estándar terapéutico en la hernioplastia inguinal bilateral, disminuyendo los tiempos quirúrgicos y mejorando el dolor y la recuperación postoperatoria y, por tanto, favoreciendo la ambulatorización del proceso. Material y métodos: Estudio retrospectivo a través de la historia clínica electrónica (IANUS) de 58 pacientes intervenidos en nuestro servicio en el periodo comprendido entre enero de 2011 y marzo de 2013. Resultados: Se han intervenido en la unidad de cirugía mayor ambulatoria (UCMA) 34 pacientes (58,6 %) y 24 (41,4 %) en régimen de cirugía de tarde. De los pacientes intervenidos en UCMA, solo 3 (8,8 %) precisaron ingreso. De los operados de tarde, 14 (58 %) tuvieron más de una pernocta. Sufrieron dolor agudo intenso 8 pacientes, 4 intervenidos en programa de cirugía ambulatoria y 4 en cirugía de tarde. Presentaron hematomas postoperatorios 8 pacientes, la mayoría intervenidos en cirugía de tarde, estado físico ASA III y tratados con antiagregantes o anticoagulantes. Conclusiones: La hernioplastia inguinal bilateral con malla autoadhesiva en UCMA es un procedimiento ambulatorizable casi al 100 %. Puede plantearse como nuevo estándar en el tratamiento ambulatorio de las hernias inguinales bilaterales (AU)


Introduction: The use of meshes made with partially absorbable materials and a design that allows the tissue to be fixed without sutures, is considered as a therapeutic standard in the bilateral inguinal hernia repair, decreasing surgery time and improving the pain and the postoperative recovery, and for that, helping the ambulatorization of the process. Material and methods: A retrospective study using the electronic medical record (IANUS) of 58 patients operated in our Service in the period between January 2011 and March 2013. Results: The patients are males in 95 % of the cases. 58.6 % underwent surgery in our outpatient surgery unit, 8.8 % needed to be admitted to hospital 41.4 % were operated in the regime of evening surgery, having to sleep overnight 58 %. 8 patients suffered severe acute pain, 4 were operated in ambulatory surgery and 4 in evening surgery. 8 patients had postoperative haematomas, the majority had been operated the evening before, were ASA III and treated with antiplatelet drugs or anticoagulants. Conclusion: The bilateral inguinal hernia repair with self-gripping mesh in our outpatient surgery unit is a day-case episode nearly 100 %. It can be considered as a new standard in the outpatient treatment of the bilateral inguinal hernias (AU)


Assuntos
Humanos , Procedimentos Cirúrgicos Ambulatórios/métodos , Hérnia Inguinal/cirurgia , Herniorrafia/métodos , Telas Cirúrgicas , Complicações Pós-Operatórias/epidemiologia , Hospitalização/estatística & dados numéricos
4.
Eur J Neurol ; 18(10): 1258-62, 2011 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-21418440

RESUMO

BACKGROUND AND OBJECTIVE: The HLA-DRB1*15 allele is consistently associated with multiple sclerosis (MS) susceptibility in most studied populations. This study investigated the association between HLA-DRB1 alleles and the presence of oligoclonal immunoglobulin G bands (OCB) in the cerebrospinal fluid (CSF) in a Spanish population with MS. METHODS: The HLA-DRB1 typing was performed in 268 patients with sporadic MS and the detection of OCB in CSF. HLA-DRB1 allelic frequencies were compared between OCB-positive and OCB-negative patients, and both groups were also compared with 1088 unrelated healthy controls. Moreover, we correlated the various HLA-DRB1 genotypes, considering all the combinations of both parental alleles found with the presence or absence of OCB. RESULTS: We found 206 OCB-positive and 62 OCB-negative patients. The HLA-DRB1*15 allele in OCB-positive patients had a higher frequency when compared with OCB-negative patients (39.3% in OCB-positive vs. 16.1% in OCB-negative, OR = 1.38 95% CI = 1.18-1.61, P < 0.001). The other alleles did not show differences. When we compared with controls, the HLA-DRB1*15 allele was associated with the disease only in the OCB-positive patients group. None of the 55 genotypes found showed any association with the presence or absence of OCB. CONCLUSIONS: HLA-DRB1*15 allele is associated with OCB-positive patients with MS when studying a Spanish MS population.


Assuntos
Predisposição Genética para Doença/genética , Cadeias HLA-DRB1/genética , Esclerose Múltipla/epidemiologia , Esclerose Múltipla/genética , Bandas Oligoclonais/genética , Polimorfismo Genético/genética , Adulto , Alelos , Estudos de Coortes , Feminino , Predisposição Genética para Doença/epidemiologia , Cadeias HLA-DRB1/imunologia , Humanos , Imunoglobulina G/líquido cefalorraquidiano , Imunoglobulina G/genética , Masculino , Esclerose Múltipla/imunologia , Bandas Oligoclonais/líquido cefalorraquidiano , Polimorfismo Genético/imunologia , Prevalência , Espanha/epidemiologia
5.
Eur J Endocrinol ; 159(5): 623-31, 2008 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-18694911

RESUMO

OBJECTIVE: Toxic thyroid adenoma (TA) is a common cause of hyperthyroidism. Mutations in the TSH receptor (TSHR) gene, and less frequently in the adenylate cyclase-stimulating G alpha protein (GNAS) gene, are well established causes of TA in Europe. However, genetic causes of TA remain unknown in a small percentage of cases. We report the first study to investigate mutations in TSHR, GNAS, protein kinase, cAMP-dependent, regulatory, type I alpha (PRKAR1A) and RAS genes, in a large series of TA from Galicia, an iodine-deficient region in NW Spain. DESIGN AND METHODS: Eighty-five TA samples were obtained surgically from 77 hyperthyroid patients, operated on for treatment of non-autoimmune toxic nodular goitre. After DNA extraction, all coding exons of TSHR, GNAS and PRKAR1A genes, and exons 2 and 3 of HRAS, KRAS and NRAS were amplified by PCR and sequenced. Previously unreported mutants were cloned in expression vectors and their basal constitutive activities were determined by quantification of cAMP response element (CRE)-luciferase activity in CO7 cells transfected with wild-type and mutant plasmids. RESULTS: TSHR gene mutations were found in 52 (61.2%) samples, GNAS gene mutations in 4 (4.71%) samples and no PRKAR1A or RAS mutations were found. Only three previously unreported mutations were found, two affecting the TSHR, A623F and I635V, and one affecting the G-protein alpha-subunit (Gsalpha), L203P. All mutant proteins showed higher CRE-luciferase activity than their wild-type counterparts. CONCLUSIONS: TA in a hyperthyroid population living in Galicia, a Spanish iodine-deficient region, harbours elevated frequencies of TSHR and GNAS mutations activating the cAMP pathway. However, the genetic cause of TA was undetermined in 34% of the TA samples.


Assuntos
Adenoma/genética , Subunidade RIalfa da Proteína Quinase Dependente de AMP Cíclico/genética , Subunidades alfa Gs de Proteínas de Ligação ao GTP/genética , Genes ras/genética , Receptores da Tireotropina/genética , Neoplasias da Glândula Tireoide/genética , Adenoma/epidemiologia , Adulto , Idoso , Cromograninas , Doenças Endêmicas , Feminino , Predisposição Genética para Doença/epidemiologia , Humanos , Hipertireoidismo/epidemiologia , Hipertireoidismo/genética , Iodo/deficiência , Masculino , Pessoa de Meia-Idade , Mutação , Prevalência , Espanha , Neoplasias da Glândula Tireoide/epidemiologia
6.
Int J Surg Pathol ; 14(1): 79-84, 2006 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-16501842

RESUMO

The breast tumor resembling the tall cell variant of papillary thyroid carcinoma is a very unusual mammary carcinoma whose histologic and predominant nuclear features mimic a papillary thyroid carcinoma. We report the case of a 64-year-old woman who presented with a palpable nodule in the right breast. Fine needle aspiration disclosed abundant cellularity with isolated cells, sheets, and papillary formations of epithelial cells with nuclear grooves. Histologically, the neoplastic cells were arranged in a solid to papillary architecture, with follicular-like and cribriform areas. The cells were columnar to cuboidal with eosinophilic cytoplasm, clear chromatin, nuclear grooves, and occasional nuclear pseudoinclusions. Tumor cells were positive for cytokeratins, alpha and beta-estrogen receptors, progesterone receptor, androgen receptor, CEA, and bcl-2. We searched for BRAF mutations with negative results. Recognizing the cytologic and histologic characteristics of these peculiar mammary tumors that mimic thyroid carcinomas can avoid unnecessary clinical investigations.


Assuntos
Neoplasias da Mama/patologia , Carcinoma Papilar/patologia , Neoplasias da Glândula Tireoide/patologia , Neoplasias da Mama/química , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/genética , Carcinoma Papilar/química , Carcinoma Papilar/diagnóstico , Carcinoma Papilar/genética , DNA de Neoplasias/análise , DNA de Neoplasias/genética , Diagnóstico Diferencial , Feminino , Humanos , Imuno-Histoquímica , Queratinas/análise , Pessoa de Meia-Idade , Mutação , Proteínas Proto-Oncogênicas B-raf/análise , Proteínas Proto-Oncogênicas B-raf/genética , Proteínas Proto-Oncogênicas c-bcl-2/análise , Proteínas Proto-Oncogênicas c-bcl-2/genética , Receptores Androgênicos/análise , Receptores Androgênicos/genética , Receptores de Estrogênio/análise , Receptores de Estrogênio/genética , Receptores de Progesterona/análise , Receptores de Progesterona/genética , Neoplasias da Glândula Tireoide/química , Neoplasias da Glândula Tireoide/diagnóstico , Neoplasias da Glândula Tireoide/genética
7.
Rev Esp Enferm Dig ; 83(1): 42-4, 1993 Jan.
Artigo em Espanhol | MEDLINE | ID: mdl-8452702

RESUMO

Primary aortoduodenal fistula is an uncommon complication of abdominal aortic aneurysm and is a rare cause of gastrointestinal bleeding. A case of primary arterioenteric fistula due to the rupture of an abdominal aortic aneurysm into the third portion of the duodenum is presented. Aneurysmectomy, duodenal repair, and extra-anatomic revascularization of the legs was performed. Diagnosis of primary aortoenteric fistula is difficult. The usual explorations are not demonstrative, and exploratory laparotomy is often mandatory.


Assuntos
Aneurisma da Aorta Abdominal/diagnóstico , Ruptura Aórtica/diagnóstico , Hemorragia Gastrointestinal/diagnóstico , Aorta Abdominal , Aneurisma da Aorta Abdominal/complicações , Aneurisma da Aorta Abdominal/cirurgia , Doenças da Aorta/diagnóstico , Doenças da Aorta/etiologia , Doenças da Aorta/cirurgia , Ruptura Aórtica/complicações , Ruptura Aórtica/cirurgia , Duodenopatias/diagnóstico , Duodenopatias/etiologia , Duodenopatias/cirurgia , Emergências , Fístula/diagnóstico , Fístula/etiologia , Fístula/cirurgia , Hemorragia Gastrointestinal/etiologia , Hemorragia Gastrointestinal/cirurgia , Humanos , Fístula Intestinal/diagnóstico , Fístula Intestinal/etiologia , Fístula Intestinal/cirurgia , Masculino , Pessoa de Meia-Idade
8.
Rev Esp Enferm Apar Dig ; 75(4): 385-8, 1989 Apr.
Artigo em Espanhol | MEDLINE | ID: mdl-2662273

RESUMO

A case is presented of bilobar hepatic cystadenoma. This is a rare benign tumor in which an adequate preoperative diagnosis is important for correct treatment. A review is made of the literature and controversial aspects of this infrequent lesion are discussed.


Assuntos
Cistadenoma/diagnóstico , Neoplasias Hepáticas/diagnóstico , Adolescente , Cistadenoma/diagnóstico por imagem , Cistadenoma/patologia , Humanos , Neoplasias Hepáticas/diagnóstico por imagem , Neoplasias Hepáticas/patologia , Masculino , Tomografia Computadorizada por Raios X , Ultrassonografia
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