Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 11 de 11
Filtrar
Mais filtros










Tipo de estudo
Intervalo de ano de publicação
1.
BMJ Case Rep ; 14(5)2021 May 07.
Artigo em Inglês | MEDLINE | ID: mdl-33962928

RESUMO

We report on a male subject with a diagnosis of Niemann-Pick type C (NPC). He received an experimental medicinal product intrathecally initially via lumbar puncture (LP) and eventually via intrathecal drug delivery device. Shortly after implantation, the device catheter migrated outside of the intrathecal space and coiled subcutaneously. The treatment continued via LP after removal of the device. A subdural haematoma developed after repeated LPs. It was surgically evacuated and the patient recovered with sequelae. Surgically implanted drug delivery devices are designed to bypass the blood-brain barrier and deliver a medicinal product directly into the cerebrospinal fluid circulation. Their use has extended into the field of neurodegenerative disorders. Significant adverse events can occur at any given time after implantation including neurological injury, dislodgement or displacement of any of its components, infection and drug-related complications; all can significantly affect the quality of life of patients. Repeated LPs also carry significant risk.


Assuntos
Doença de Niemann-Pick Tipo C , Preparações Farmacêuticas , Criança , Progressão da Doença , Humanos , Injeções Espinhais , Masculino , Doença de Niemann-Pick Tipo C/tratamento farmacológico , Qualidade de Vida , Punção Espinal
2.
JIMD Rep ; 49(1): 43-47, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31497480

RESUMO

Imerslund-Grasbeck syndrome (IGS, OMIM 261100) is a rare autosomal recessive disease characterized by vitamin B12 malabsorption resulting in megaloblastic anemia and asymptomatic proteinuria. IGS is caused by bi-allelic mutations in either CUBN or AMN that respectively encode the cubilin and amnionless subunits of the cobalamin-intrinsic factor receptor. We report four siblings (three boys, one girl) of non-consanguineous parents of Jewish background, aged 10 months to 12 years, with homozygous CUBN frameshift c.2614_2615deIGA p.(Asp872LeufisTer3) mutation and typical features of IGS. The two older brothers presented in early infancy with lethargy, mouth ulcerations, eosinophilic enterocolitis, megaloblastic anemia and failure to thrive. Investigations revealed low serum cobalamin levels. Intramuscular hydroxycobalamin supplementation resulted in dramatic resolution of all symptoms including lethargy. A positive impact on their growth curve was seen. Prospective early treatment in the younger siblings prevented these manifestations. Proteinuria with proximal tubulopathy was seen in all patients, plasma protein level and renal function were normal. All children had pronounced vitamin D deficiency and required high doses of oral supplementation. Vitamin B12 treatment could be individually adjusted; requirement decreased with age. Tubulopathy showed improvement over time. Low vitamin D could be explained by cubilin being involved in reabsorption of vitamin carriers.

3.
Rev. panam. salud pública ; 22(6): 383-388, dic. 2007. tab
Artigo em Espanhol | LILACS | ID: lil-475115

RESUMO

OBJETIVOS: Determinar en una serie de biopsias endoscópicas esofágicas consecutivas registradas en un laboratorio de anatomía patológica de la ciudad de Rosario, Argentina, la frecuencia relativa de adenocarcinoma y carcinoma escamoso, comparando los períodos 1992-1999 y 2000-2006. Verificar si se observa un aumento en la frecuencia relativa de adenocarcinoma esofágico con respecto al carcinoma escamoso, similar al notificado en otros países occidentales. MÉTODOS: Se estudiaron las biopsias endoscópicas esofágicas con diagnóstico de adenocarcinoma y carcinoma escamoso infiltrantes, y de esófago de Barrett (EB) realizadas entre 1992 y 2006. Se compararon las frecuencias relativas de estos cánceres en los períodos 1992-1999 y 2000-2006 por la prueba de la Z y se analizó la distribución por edad y sexo mediante la prueba de la ji2, con un nivel de significación (alfa) de 0,05. RESULTADOS: Se detectaron, en total, 125 carcinomas escamosos y adenocarcinomas infiltrantes. La frecuencia relativa adenocarcinoma/carcinoma escamoso fue 0,33/0,67 en toda la serie, 0,28/0,72 en el período 1992-1999 y 0,38/0,62 en el período 2000-2006. Las diferencias no fueron estadísticamente significativas. Los hombres representaron 75,6 por ciento de los casos de adenocarcinoma y 57,1 por ciento de los de carcinoma escamoso; esta diferencia resultó significativa (P<0,05). La edad media de los pacientes en el momento del diagnóstico era de 66,0años en el caso del adenocarcinoma y 67,9años en el del carcinoma escamoso. La frecuencia de carcinomas infiltrantes fue mayor entre los hombres menores de 65años que entre las mujeres del mismo grupo etario (P<0,025). El EB se diagnosticó en una proporción de 6 a 1 con respecto al adenocarcinoma. CONCLUSIONES: El adenocarcinoma y el carcinoma escamoso predominaron en hombres, pero el adenocarcinoma en mayor proporción. La frecuencia relativa del adenocarcinoma aumentó en 10 por ciento en los últimos siete años de la serie...


OBJECTIVES: To determine the relative frequency of adenocarcinoma and squamous carcinoma in a series of endoscopic biopsies of the esophagus registered in consecutive order in a pathology laboratory in the city of Rosario, Argentina, during two time periods: 1992-1999 and 2000-2006. To determine if the relative frequency of esophageal adenocarcinoma has increased over that of squamous carcinoma, in keeping with the trends noted in other Western countries. METHODS: We studied the endoscopic esophageal biopsies diagnosed with infiltrating adenocarcinoma and squamous carcinoma and Barrett's esophagus (BE) between 1992 and 2006. The relative frequency of these cancers were compared for the periods 1992-1999 and 2000-2006 using the z-test. A distribution analysis for age and sex was performed by the chi-square test using a confidence level (alpha) of 0.05. RESULTS: In all, 125 infiltrating squamous carcinomas and adenocarcinomas were found. The relative frequency of adenocarcinoma/squamous carcinoma for the entire series was 0.33/0.67; for the period from 1992-1990, 0.28/0.72; and from 2000-2006, 0.38/0.62. The differences were not statistically significant. Males constituted 75.6 percent of the cases of adenocarcinoma and 57.1 percent of the cases of squamous carcinomas; this difference was statistically significant (P<0.05). The mean age of the patients at the time of diagnosis was 66.0 years of age for adenocarcinoma and 67.9years for squamous carcinoma. The frequency of infiltrating carcinoma was greater among the men than among the women of the age group under 65 years (P<0.025). BE was diagnosed at a rate of 6:1 relative to adenocarcinoma. CONCLUSIONS: Adenocarcinoma and squamous carcinoma were predominant among men, though adenocarcinoma was the major part of these. The relative frequency of adenocarcinoma rose 10 percent in the last 7 years of the series compared with the first 7 years. This difference was not significant, but it may...


Assuntos
Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adenocarcinoma/epidemiologia , Carcinoma de Células Escamosas/epidemiologia , Neoplasias Esofágicas/epidemiologia , Adenocarcinoma/patologia , Argentina , Biópsia , Carcinoma de Células Escamosas/patologia , Neoplasias Esofágicas/patologia , Esofagoscopia
4.
Rev Panam Salud Publica ; 22(6): 383-8, 2007 Dec.
Artigo em Espanhol | MEDLINE | ID: mdl-18291057

RESUMO

OBJECTIVES: To determine the relative frequency of adenocarcinoma and squamous carcinoma in a series of endoscopic biopsies of the esophagus registered in consecutive order in a pathology laboratory in the city of Rosario, Argentina, during two time periods: 1992-1999 and 2000-2006. To determine if the relative frequency of esophageal adenocarcinoma has increased over that of squamous carcinoma, in keeping with the trends noted in other Western countries. METHODS: We studied the endoscopic esophageal biopsies diagnosed with infiltrating adenocarcinoma and squamous carcinoma and Barrett's esophagus (BE) between 1992 and 2006. The relative frequency of these cancers were compared for the periods 1992-1999 and 2000-2006 using the z-test. A distribution analysis for age and sex was performed by the chi-square test using a confidence level (alpha) of 0.05. RESULTS: In all, 125 infiltrating squamous carcinomas and adenocarcinomas were found. The relative frequency of adenocarcinoma/squamous carcinoma for the entire series was 0.33/0.67; for the period from 1992-1990, 0.28/0.72; and from 2000-2006, 0.38/0.62. The differences were not statistically significant. Males constituted 75.6% of the cases of adenocarcinoma and 57.1% of the cases of squamous carcinomas; this difference was statistically significant (P < 0.05). The mean age of the patients at the time of diagnosis was 66.0 years of age for adenocarcinoma and 67.9 years for squamous carcinoma. The frequency of infiltrating carcinoma was greater among the men than among the women of the age group under 65 years (P < 0.025). BE was diagnosed at a rate of 6:1 relative to adenocarcinoma. CONCLUSIONS: Adenocarcinoma and squamous carcinoma were predominant among men, though adenocarcinoma was the major part of these. The relative frequency of adenocarcinoma rose 10% in the last 7 years of the series compared with the first 7 years. This difference was not significant, but it may signal a general trend similar to that described in other countries.


Assuntos
Adenocarcinoma/epidemiologia , Carcinoma de Células Escamosas/epidemiologia , Neoplasias Esofágicas/epidemiologia , Adenocarcinoma/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Argentina , Biópsia , Carcinoma de Células Escamosas/patologia , Neoplasias Esofágicas/patologia , Esofagoscopia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
6.
Odontol. mod ; 22(3): 19-30, jul.-set. 1995. tab
Artigo em Português | BBO - Odontologia | ID: biblio-852696

RESUMO

O propósito deste trabalho foi avaliar em pacientes dentados e desdentados totais a variação do intervalo de repouso, aferida por quatro profissionais com diferentes experiências clínicas, em razão do tempo de exercício profissional


Assuntos
Humanos , Masculino , Feminino , Prótese Total , Dimensão Vertical , Eficiência , Fatores de Tempo , Xenarthra
7.
Rev. odontol. UNESP ; 24(1): 153-60, jan.-jun. 1995. tab
Artigo em Português | LILACS, BBO - Odontologia | ID: lil-160022

RESUMO

Este estudo tem por objetivo comparar o registro da trajetória condílica sagital pelo Desgaste de Paterson, com movimento protrusivo limitado (5mm) e com liberdade de movimento. Os resultados obtidos foram também comparados ao registro extra-oral, com base na técnica preconizada por Gyzi, tida como padräo, para observaçäo de possível significância entre os três métodos


Assuntos
Humanos , Adulto , Côndilo Mandibular/fisiopatologia , Registro da Relação Maxilomandibular , Mandíbula
8.
Rev. reg. Aracatuba assoc. paul. cir. Dent ; (13): 11-4, 1992. ilus, tab
Artigo em Português | BBO - Odontologia | ID: biblio-858823

RESUMO

Levando-se em consideração as possíveis movimentações das bases de prova que podem ocorrer durante os registros intra-orais, os autores, tendo como referência padrão o registro extra-oral de Gysi, avaliaram o desgaste de Paterson utilizando bases de provas adaptadas e prensadas


Assuntos
Articuladores Dentários , Prótese Total , Técnicas de Movimentação Dentária
9.
RGO (Porto Alegre) ; 39(5): 323-7, set.-out. 1991. ilus
Artigo em Português | LILACS, BBO - Odontologia | ID: biblio-854777

RESUMO

Para que as Próteses Totais possam funcionar adequadamente, em equilíbrio com a musculatura e articulação temporomandibular, faz-se necessário durante sua construção, a utilização de um articulador semi-ajustável, programado com base em registros fiéis. Os registros intra-orais com cera tem sido muito utilizados por sua facilidade de manuseio e por seu baixo custo, entretanto, torna-se difícil estabelecermos um critério que indique a espessura dos mesmos. Assim, os autores propuseram-se a obter registros intra-orais para o movimento protrusivo com 2, 3 e 4 lâminas de cera, com o intuito de avaliar se existe compatibilidade entre as três técnicas, comparadas ao registro extra-oral de Gysi, considerado padrão. Os resultados deste estudo levaram os autores a concluírem que os registros feitos com 2 e 3 lâminas de cera foram os que mais se aproximaram do método padrão


Assuntos
Humanos , Masculino , Feminino , Articuladores Dentários , Prótese Total , Diretório , Articulação Temporomandibular , Ceras
10.
Rev. Assoc. Paul. Cir. Dent ; 41(3): 131-5, maio-jun. 1987. tab, ilus
Artigo em Português | LILACS, BBO - Odontologia | ID: lil-108670

RESUMO

Os autores estudaram o equilíbrio de pressäo de mordida pela técnica preconizada por Aldrovandi (1956), interpondo entre os planos de orientaçäo, cera utilidade (Wilson), pasta zincoenólica "Luralite" (Kerr Indústria e Comércio Ltda.), material elástico "Impregum" (made in W. Germany) e a cera rosa n§ 7 (Wilson), que serviu de referência-padräo


Assuntos
Humanos , Adulto , Pessoa de Meia-Idade , Oclusão Dentária Central , Prótese Total
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...