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1.
Article in English, Portuguese | LILACS, BDENF - Nursing | ID: biblio-1531931

ABSTRACT

Objetivo: analisar a percepção da equipe de enfermagem sobre o método canguru em uma maternidade de alto risco. Método: estudo exploratório, descritivo, de abordagem qualitativa, realizado por meio de entrevista semiestruturada com enfermeiros de uma maternidade de alto risco de Recife (PE), desenvolvida entre janeiro e fevereiro de 2020. As entrevistas foram transcritas e submetida a análise através da técnica de conteúdo de Bardin. Resultados: ocorreu a formulação de duas categorias, assistência de enfermagem no método canguru e benefícios e desafios encontrados no Método Canguru. As participantes relataram que os cuidados de enfermagem se baseiam principalmente em orientações as mães, a escassez de profissionais e baixa adesão foram evidenciados como principais desafios. Conclusão: constatou-se que a atuação de enfermagem no método canguru é um complexo processo, necessitando de uma equipe de enfermagem motivada e especializada


Objective: analyze the nursing team's perception of the kangaroo method in a high-risk maternity hospital. Method: exploratory, descriptive study, with a qualitative approach, carried out through semi-structured interviews with nurses from a high-risk maternity hospital in Recife (PE), carried out between January and February 2020. The interviews were transcribed and subjected to analysis using the content technique by Bardin. Results: two categories were formulated, nursing care in the kangaroo method and benefits and challenges found in the Kangaroo Method. Participants reported that nursing care is mainly based on guidance from mothers, the shortage of professionals and low adherence were highlighted as main challenges. Conclusion: it was found that nursing practice in the kangaroo method is a complex process, requiring a motivated and specialized nursing team


Objetivos: analizar la percepción del equipo de enfermería sobre el método canguro en una maternidad de alto riesgo. Método: Estudio exploratorio, descriptivo, con enfoque cualitativo, realizado a través de entrevistas semiestructuradas a enfermeros de una maternidad de alto riesgo de Recife (PE), realizado entre enero y febrero de 2020. Las entrevistas fueron transcritas y sometidas a análisis mediante el Técnica de contenidos de Bardin. Resultados: Se formularon dos categorías, los cuidados de enfermería en el método canguro y los beneficios y desafíos encontrados en el Método Canguro. Los participantes informaron que la atención de enfermería se basa principalmente en la orientación de las madres, la escasez de profesionales y la baja adherencia fueron destacados como principales desafíos. Conclusión: se encontró que la práctica de enfermería en el método canguro es un proceso complejo, que requiere de un equipo de enfermería motivado y especializado


Subject(s)
Humans , Female , Adult , Middle Aged , Young Adult , Neonatal Nursing , Kangaroo-Mother Care Method , Nursing Care , Nursing, Team
2.
REVISA (Online) ; 13(1): 102-113, 2024.
Article in Portuguese | LILACS | ID: biblio-1531982

ABSTRACT

Objetivo:Compreender o cenário atual da ELT-HS, caracterizado por sua fisiopatologia, manifestações clínicas, métodos diagnósticos e tratamentos. Método:Trata-se de uma revisão integrativa da literatura, com caráter descritivo, de artigos indexados no Sistema de Análise e Recuperação da Literatura Médica Online MEDLINE/Pubmed, Literatura Latino-Americana e do Caribe em Ciências da Saúde LILACS, e nas bases de dados Científicas Electronic Library Online (SciELO), pesquisados na período compreendido entre outubro de 2022 e março de 2023. Foram incluídos artigos em português e inglês que contemplassem os objetivos da revisão, publicados nos últimos dez anos (2011-2021).Resultados: Inicialmente foram encontrados 144 artigos nas bases de dados, que após a leitura, foramselecionados na pesquisa 40 artigos que correspondiam ao objetivo proposto. Os artigos analisados correspondem aos anos de 2011 a 2021. Conclusão:O tratamento cirúrgico da ELT-HS tem se mostrado eficaz para resolução completa das crises na maioria dos pacientes. O conhecimento sobre sua fisiopatologia, manifestações clínicas, diagnóstico e tratamentos são de fundamental importância para os médicos que atendem pacientes com epilepsia.


Objective: To understand the current scenario of TLE-HS, characterized by its pathophysiology, clinical manifestations, diagnostic methods and treatments. Method:This is an integrative literature review with descriptive character, of articles indexed in the Medical Literature Analysis And Retrieval System Online MEDLINE/Pubmed, Latin American and Caribbean Literature in Health Sciences LILACS, and Scientic databases Electronic Library Online (SciELO), researched in the period between october 2022 and march 2023. Articles in Portuguese and English that contemplated the objectives of the review, published in the last ten years (2011-2021), were included. Results:Initially, 144 articles were found in the databases, which after reading, 40 articles were selected in the research that corresponded to the proposed objective. The articles analyzed are equivalent to the years 2011 to 2021. Conclusion:The surgical treatment of TLE-HS has been shown to be effective for the complete resolution of crises in most patients. Knowledge about its pathophysiology, clinical manifestations, diagnosis and treatments are of fundamental importance for physicians who treat patients with epilepsy


Objetivo: Comprender el escenario actual de la TLE-HS, caracterizado por su fisiopatología, manifestaciones clínicas, métodos diagnósticos y tratamientos. Método: Se trata de una revisión bibliográfica integradora con carácter descriptivo, de artículos indexados en el Sistema de Análisis y Recuperación de Literatura Médica en Línea MEDLINE/Pubmed, Literatura Latinoamericana y del Caribe en Ciencias de la Salud LILACS, y bases de datos Scientic Electronic Library Online (SciELO), investigados en el período comprendido entre octubre de 2022 y marzo de 2023. Se incluyeron artículos en portugués e inglés que contemplaran los objetivos de la revisión, publicados en los últimos diez años (2011-2021). Resultados:Inicialmente se encontraron 144 artículos en las bases de datos, de los cuales luego de la lectura se seleccionaron 40 artículos en la investigación que correspondía al objetivo propuesto. Los artículos analizadoscorresponden a los años 2011 a 2021. Conclusión:El tratamiento quirúrgico del ELT-HS se ha mostrado eficaz para la resolución completa de las crisis en la mayoría de los pacientes. El conocimiento sobre su fisiopatología, manifestaciones clínicas, diagnóstico y tratamientos es de fundamental importancia para los médicos que tratan pacientes con epilepsia


Subject(s)
Epilepsy, Temporal Lobe , Epilepsy , Hippocampal Sclerosis
3.
Arq. ciências saúde UNIPAR ; 27(2): 1027-1037, Maio-Ago. 2023.
Article in Portuguese | LILACS | ID: biblio-1425176

ABSTRACT

Objetivo: Descrever a importância do processo de educação em saúde reali- zado pelo enfermeiro aos pacientes hipertensos na atenção básica. Metodologia: Trata-se de uma revisão bibliográfica, onde foram utilizados artigos científicos identificados nas bases de dados: SciELO, LILACS e MEDLINE. Um total de 4.427 estudos foram encon- trados, após o refinamento oito foram selecionados para compor a amostra. Resultados: A estratégia educativa em saúde tem grande efetivação no tratamento da HAS, visto que o enfermeiro vai conhecer o paciente e direcioná-lo ao tratamento adequado, monitorando seu estado de saúde e evitando possíveis agravos. Contudo, o abandono do tratamento pelo cliente é uma das maiores dificuldades enfrentadas pelo o enfermeiro. Além disso, desafios no contexto do processo de trabalho em equipe e barreiras relacionadas à estru- tura física nas unidades de saúde. Considerações finais: O enfermeiro exerce um papel importante dentro do contexto da hipertensão arterial. Trazendo a prática baseada em evi- dências como abordagem, garantindo adesão ao tratamento e o controle dos níveis pres- sóricos da HAS.


Objective: To describe the importance of the health education process carried out by nurses with hypertensive patients in primary care. Methodology: This is a bibliographic review, where scientific articles identified in the databases: SciELO, LILACS and MEDLINE were used. A total of 4,427 studies were found, after refinement, eight were selected to compose the sample. Results: The health education strategy is highly effective in the treatment of SAH, as the nurse will get to know the patient and direct him to the appropriate treatment, monitoring his health status and avoiding possible injuries. However, abandonment of treatment by the client is one of the greatest difficulties faced by the nurse. In addition, challenges in the context of the teamwork process and barriers related to the physical structure in health units. Final considerations: Nurses play an important role within the context of arterial hypertension. Bringing evidence-based practice as an approach, ensuring adherence to treatment and control of blood pressure levels in SAH.


Objetivo: Describir la importancia del proceso de educación para la salud llevado a cabo por enfermeras con pacientes hipertensos en atención primaria. Metodología: Se trata de una revisión bibliográfica, donde los artículos científicos identificados en las bases de datos: SciELO, LILACS y MEDLINE. Fueron encontrados 4.427 estudios, después del refinamiento, ocho fueron seleccionados para componer la muestra. Resultados: La estrategia de educación sanitaria es altamente eficaz en el tratamiento de la HSA, ya que la enfermera conocerá al paciente y lo dirigirá al tratamiento adecuado, monitorizando su estado de salud y evitando posibles lesiones. Sin embargo, el abandono del tratamiento por parte del cliente es una de las mayores dificultades a las que se enfrenta la enfermera. Además, los desafíos en el contexto del proceso de trabajo en equipo y las barreras relacionadas con la estructura física en las unidades de salud. Consideraciones finales: Las enfermeras desempeñan un papel importante en el contexto de la hipertensión arterial. Traer la práctica basada en la evidencia como abordaje, garantizando la adherencia al tratamiento y el control de los niveles de presión arterial en la HTA.


Subject(s)
Patients , Health Education , Primary Care Nursing/instrumentation , Hypertension/nursing , Primary Health Care , Blood Pressure , Health Strategies , Treatment Adherence and Compliance/psychology , Nursing Care
4.
J. Health NPEPS ; 8(1): e10952, jan - jun, 2023.
Article in Portuguese | LILACS, BDENF - Nursing, Coleciona SUS | ID: biblio-1513023

ABSTRACT

Objetivo: analisar os desafios enfrentados por enfermeiros da classificação de risco de um serviço de urgência e emergência. Método: pesquisa exploratória e descritiva, com abordagem qualitativa. A coleta de dados ocorreu em março de 2019, por meio de entrevistas semiestruturadas e individuais com enfermeiros atuantes em Unidade de Pronto Atendimento do município de Caruaru, Pernambuco, Brasil. Para a análise, utilizou-se a análise de conteúdo de Bardin. Resultados: foram geradas três categorias: assistência de enfermagem na classificação de risco; desafios do setor de classificação de risco; e desafios da ferramenta que define a classificação de risco. As participantes apontaram questões como falta de compreensão da população, protocolo defasado e discordância com outros membros da equipe como os principais desafios. Conclusão: verificou-se que a atuação da enfermagem na classificação de risco é um processo ainda complexo, que não depende estritamente de protocolos, mas de profissionais motivados, treinados continuamente e em sintonia.


Objective: to analyze the challenges faced by nurses in the risk classification of an urgency and emergency service. Method: exploratory and descriptive research, with a qualitative approach. Data collection took place in March 2019, through semi-structured and individual interviews with nurses working in an Emergency Care Unit in the city of Caruaru, Pernambuco, Brazil. For the analysis, Bardin's content analysis was used. Results: three categories were generated: nursing care in risk classification; challenges of the risk classification industry, and challenges of the tool that defines the risk classification. Participants pointed out issues such as lack of understanding of the population, outdated protocol and disagreement with other team members, as the main challenges. Conclusion: it was found that the role of nursing in risk classification is still a complex process, which does not strictly depend on protocols, but on motivated professionals, continuously trained and in tune.


Subject(s)
Nursing , Emergency Nursing , Risk Assessment , Emergency Service, Hospital , Emergency Treatment
5.
BMC Neurol ; 16: 139, 2016 Aug 17.
Article in English | MEDLINE | ID: mdl-27530902

ABSTRACT

BACKGROUND: Recent studies have reported that peripheral neuropathy (PN) is common in patients with Parkinson's disease (PD) and raised the possibility that levodopa neurotoxicity is the main culprit. METHODS: We evaluated the presence of large & small (autonomic) fiber PN in 54 consecutive patients with PD or parkinsonism in a tertiary outpatient clinic from Brazil. Initial PN screening consisted of history/neurological exam and skin wrinkling test (SWT). In addition, we also performed Nerve conduction studies/Electromyography (NCS/EMG) in all patients with PN signs/symptoms and/or abnormal SWT. RESULTS: Thirty eight patients with PD (10 women, mean age: 63 ± 2.1 years, P < 0.05 versus parkinsonism, mean disease duration: 8 ± 0.8 years) and 16 patients with other forms of parkinsonism [7 women, mean age: 50.1 ± 3.9 years, mean disease duration: 6.9 ± 1.1 years] completed clinical neuromuscular evaluation. SWT was performed in 48 patients (33 PD, 15 parkinsonism). In the PD group, SWT was abnormal in 57.6% of the tested patients (comprising 50% of all PD patients). In the parkinsonism group, SWT was abnormal in 37.5% (comprising 35.3% of all parkinsonism patients). NCS/EMG was performed in 39 patients (26 PD and 13 parkinsonism). Twelve out of the 26 PD (34.2% of all PD) and 4 out of the 13 parkinsonism (23.5% of all parkinsonism) had abnormal NCS/EMG results. Neuropathy prevalence was similar in PD and parkinsonism groups as detected either by NCS/EMG or SWT. CONCLUSIONS: Large fiber and small (autonomic) fiber PN are common in patients with PD and parkinsonism. The etiology for the neuropathy was likely to be multifactorial and may be secondary to PD itself.


Subject(s)
Antiparkinson Agents/therapeutic use , Autonomic Pathways/drug effects , Levodopa/therapeutic use , Parkinson Disease/drug therapy , Parkinsonian Disorders/drug therapy , Peripheral Nervous System Diseases/etiology , Age Factors , Aged , Antiparkinson Agents/adverse effects , Autonomic Nervous System Diseases/etiology , Diabetes Complications , Electromyography/methods , Female , Humans , Levodopa/adverse effects , Male , Middle Aged , Neural Conduction/physiology , Neuromuscular Junction/physiology , Skin/innervation
6.
eNeurologicalSci ; 5: 11-14, 2016 Dec.
Article in English | MEDLINE | ID: mdl-29430552

ABSTRACT

Botulinum toxin injections are the most effective approach for the treatment of focal dystonia. Despite growing demand and clinical indications over the years, there are few reports or publications of its use and benefit to patients seen at the Sistema Único de Saúde - SUS (Unified Health System). Analyzing the Datasus data (Unified Health System Information Department of Brazilian Ministry of Health), it was noticed that in Brazil the percentage of dystonic patient benefited from this procedure is still low. We therefore suggest some strategies to increase the dispensation of the toxin by the Brazilian Unified Health system for the dystonic patients.

7.
Seizure ; 31: 7-11, 2015 Sep.
Article in English | MEDLINE | ID: mdl-26362370

ABSTRACT

PURPOSE: Temporal lobe epilepsy (TLE) is the most common variety of focal epilepsy among adults. The neuroinflammatory mechanisms of epilepsies may be involved in the genesis of seizures and refractory epilepsies, particularly in the case of progressive syndromes such as TLE associated with mesial hippocampal sclerosis (TLE-HS). The goal of the present study is investigate the genetic profile of susceptibility of individuals with TLE-HS by analyzing the possible association of TLE-HS with human leukocyte antigen (HLA) DRB1, DQA1 and DQB1 alleles. METHODS: Peripheral blood samples were collected from 42 individuals with pharmacoresistant TLE-HS and 89 healthy controls. The typing of the HLA class II alleles from DRB1, DQB1, and DQA1 loci were analyzed using sequence-specific primer-polymerase chain reaction (SSP-PCR) and identified through sequencing. Statistical analysis of relative allele frequencies was performed using an Excel spreadsheet; p-value, relative risk (RR), and odds ratio (OR) were calculated using the software Epi Info 6.0. p-values <0.05 following Bonferroni's method correction were considered statistically significant. RESULTS: HLA-DRB1*13:02 was the only allele with a statistically significant difference (p=0.01) in frequency between patients and controls. However, the significance was lost following Bonferroni's method correction (p=0.44). The remainder of the alleles in the HLA-DRB1, HLA-DQB1 and HLA-DQA1 regions did not exhibit any significant association. CONCLUSION: The allele HLA DRB1*13:02 has exhibited a tendency to behave as a susceptibility factor for TLE-HS.


Subject(s)
Drug Resistant Epilepsy/genetics , Epilepsy, Temporal Lobe/genetics , Genetic Predisposition to Disease , HLA-DQ alpha-Chains/genetics , HLA-DQ beta-Chains/genetics , HLA-DRB1 Chains/genetics , Adolescent , Adult , Aged , Drug Resistant Epilepsy/pathology , Drug Resistant Epilepsy/physiopathology , Epilepsy, Temporal Lobe/pathology , Epilepsy, Temporal Lobe/physiopathology , Female , Gene Frequency , Genetic Association Studies , Hippocampus/pathology , Humans , Male , Middle Aged , Sclerosis , Young Adult
11.
Arq. neuropsiquiatr ; 65(3a): 721-727, set. 2007.
Article in Portuguese | LILACS | ID: lil-460819

ABSTRACT

Este artigo contém as conclusões de reunião de 17-18 de novembro de 2006 do Grupo Brasileiro de Estudo em Síndrome das Pernas Inquietas (GBE-SPI) sobre diagnóstico e tratamento de SPI. Reiterou-se que se trata de condição de diagnóstico exclusivamente clínico, caracterizada por sensação anormal localizada, sobretudo, mas não exclusivamente, em membros inferiores, com piora noturna e alívio por movimentação da parte envolvida. Agentes terapêuticos com eficácia comprovada por estudos classe I são agonistas dopaminérgicos, levodopa e gabapentina enquanto que ácido valpróico de liberação lenta, clonazepam, oxicodona e reposição de ferro têm eficácia sugerida por estudos classe II. As recomendações do GBE-SPI para manejo de SPI primária são medidas de higiene do sono, suspensão de agentes agravantes de SPI, tratamento de comorbidades e agentes farmacológicos. Para estes as drogas de primeira escolha são agentes dopaminérgicos; segunda escolha são gabapentina ou oxicodona; e terceira escolha são clonazepam ou ácido valpróico de liberação lenta.


This article contains the conclusions of the November 17-18, 2006 meeting of the Brazilian Study Group of Restless Legs Syndrome (GBE-SPI) about diagnosis and management of restless legs syndrome (RLS). RLS is characterized by abnormal sensations mostly but not exclusively in the legs which worsen in the evening and are improved by motion of the affected body part. Its diagnosis is solely based on clinical findings. Therapeutic agents with efficacy supported by Class I studies are dopamine agonists, levodopa and gabapentine. Class II studies support the use of slow release valproic acid, clonazepan and oxycodone. The GBE-SPI recommendations for management of SPI are sleep hygiene, withdrawal of medications capable of worsening the condition, treatment of comorbidities and pharmacological agents. The first choice agents are dopaminergic drugs, second choice are gabapentine or oxycodone, and the third choice are clonazepan or slow release valproic acid.


Subject(s)
Humans , Restless Legs Syndrome/diagnosis , Restless Legs Syndrome/drug therapy , Dopamine Agents/therapeutic use , Dopamine Agonists/therapeutic use , Anticonvulsants/therapeutic use , Brazil , Diagnosis, Differential
12.
Arq Neuropsiquiatr ; 64(2A): 222-7, 2006 Jun.
Article in English | MEDLINE | ID: mdl-16791360

ABSTRACT

We conducted a 320 year retrospective survey of the history and genealogy of a large Brazilian family with SCA7. The ancestral couple was from the State of Ceará, Brazil, and the genealogical tree was composed of 577 individuals, including 217 males (37.6%), 255 females (44.1%) and 105 individuals of unknown sex (18.1%). Based on collected information, the 118 individuals consistently affected were distributed in generations IV (n=2), V (n=28), VI (n=57), VII (n=25) and VIII (n=6) of the genealogical tree. Sixty affected members are alive, 37 of them (61.6%) live in the Northeast region, 12 (20%) in the Southeast, 9 (15%) in the Center-West and 2 (3.3%) in the North. This genealogical survey was based only on 4 of the 10 children of the ancestral couple since the destiny of the remaining 6 is unknown. We propose that other Brazilian families with SCA7 may have the same genetic origin.


Subject(s)
Pedigree , Spinocerebellar Ataxias/genetics , Brazil , Female , Genotype , Humans , Male , Phenotype , Retrospective Studies
13.
Arq. neuropsiquiatr ; 64(2a): 222-227, jun. 2006. ilus, tab
Article in English | LILACS | ID: lil-429688

ABSTRACT

Avaliamos retrospectivamente 320 anos da história e da genealogia de uma família brasileira portadora de ataxia espinocerebelar do tipo 7 (AEC7). O casal ancestral é oriundo do Estado do Ceará e a árvore genealógica foi composta de 577 indivíduos, sendo 217 do sexo masculino (37,6%), 255 do sexo feminino (44,1%) e 105 de sexo ignorado (18,1%). Até o presente momento, 118 indivíduos foram acometidos, distribuídos nas gerações IV (n=2), V (n=28), VI (n=57), VII (n=25) e VIII (n=6) da árvore genealógica. Entre os doentes atualmente vivos (n=60), 37 deles (61,6%) encontram-se na região Nordeste, 12 (20%) na região Sudeste, 9 (15%) na região Centro-Oeste e 2 (3,3%) na região Norte. Uma vez que a reconstituição da árvore genealógica foi baseada em apenas 4 dos 10 filhos do casal ancestral devido ao desconhecimento do destino dos outros 6, levantamos a hipótese de que outras famílias brasileiras com AEC7 possam ter a mesma origem genética.


Subject(s)
Female , Humans , Male , Pedigree , Spinocerebellar Ataxias/genetics , Brazil , Genotype , Phenotype , Retrospective Studies
14.
BJU Int ; 97(3): 567-9, 2006 Mar.
Article in English | MEDLINE | ID: mdl-16469027

ABSTRACT

OBJECTIVE: To evaluate the presence of structural disorders of the corpora cavernosa in patients with erectile dysfunction (ED), as despite new drugs being effective in many men with ED, some aspects of structural disorders of the corpora cavernosa remain unknown. MATERIALS AND METHODS: Biopsy specimens were taken from the corpora cavernosa of seven patients (mean age 57.8 years, range 51-72) with severe ED who had a penile prosthesis implanted. The controls tissues were fragments of corpora cavernosa obtained from autopsies of six men (mean age 52.3 years, range 40-66) who died from causes unrelated to the urogenital system. For light microscopy, the specimens were processed routinely to paraffin wax, and by immunohistochemistry to evaluate elastic fibres, and by Masson's trichrome to analyse collagen and smooth muscle fibres. Stereological methods were used to quantitatively evaluate the different elements (as a percentage). RESULTS: The percentages of the different elements in the human penis of controls and men with ED, respectively, were: elastic fibres 13.2% and 9.1%; collagen fibres 40.8% and 41.6%; and smooth muscle, 40.4% and 42%. CONCLUSIONS: In patients with ED there was a statistically significant reduction in the percentage of elastic fibres, but no statistically significant difference in collagen and smooth muscle fibres, and no appreciable differences in collagen distribution between the groups.


Subject(s)
Erectile Dysfunction/pathology , Penis/pathology , Aged , Biopsy , Erectile Dysfunction/surgery , Extracellular Matrix/pathology , Humans , Immunohistochemistry , Male , Middle Aged , Penile Prosthesis , Penis/surgery
15.
Am J Med Genet B Neuropsychiatr Genet ; 133B(1): 120-3, 2005 Feb 05.
Article in English | MEDLINE | ID: mdl-15635662

ABSTRACT

Autosomal recessive juvenile parkinsonism (AR-JP, PARK2) is characterized by an early onset parkinsonism, often presenting with dystonia as an early feature. Mutations in Parkin are a relatively common cause of AR-JP and are estimated to be present in approximately 30% of familial young onset Parkinson disease (PD) [Abbas et al. (1999); Hum Mol Genet 8:567-574]. These mutations include exon rearrangements (deletions and duplications), point mutations, and small deletions. Similar genomic mutations have been described in unrelated patients, thereby indicating independent mutational events or ancient founder effects. We have identified homozygous deletion mutations of exon 4 in Parkin in two unrelated families, one from Brazil and the other from Turkey [Dogu et al. (2004); Mov Dis 9:812-816; Khan et al., Mov Dis, in press]. We have performed molecular analysis of the deletion breakpoints and this data indicates these mutations originated independently. We present here data demonstrating that the mutation responsible for disease in the Brazilian kindred consists of two separate deletions (1,069 and 1,750 bp) surrounding and including exon 4. The deletion removing parkin exon 4 identified in the Turkish family extended 156,203 bp. In addition to demonstrating that disease in these families is not caused by a single founder mutation, these data show that there is no common fragile site between these mutational events.


Subject(s)
Exons/genetics , Gene Deletion , Parkinson Disease/genetics , Ubiquitin-Protein Ligases/genetics , Base Sequence , Brazil , DNA/chemistry , DNA/genetics , DNA Mutational Analysis , Family Health , Female , Humans , Male , Turkey
16.
Mov Disord ; 20(4): 479-484, 2005 Apr.
Article in English | MEDLINE | ID: mdl-15641013

ABSTRACT

We report on a large Brazilian kindred with young-onset parkinsonism due to either a homozygous or heterozygous mutation in parkin. A total of 6 members were affected: 5 were homozygous and 1 heterozygous for a deletion in exon 4. Two other heterozygotes also had extrapyramidal signs. All affected subjects showed characteristic features of parkin disease with foot dystonia and an excellent response to levodopa complicated by motor fluctuations and dyskinesia within 3 years of therapy. Careful clinical follow-up over 10 years showed the phenotype was similar in all the homozygotes with asymmetrical limb bradykinesia and early walking difficulties. Some acceleration of disability was observed in some of the cases as they entered the third decade of illness, but dementia was absent.


Subject(s)
Heterozygote , Parkinsonian Disorders/ethnology , Parkinsonian Disorders/genetics , Ubiquitin-Protein Ligases/genetics , Adult , Antiparkinson Agents/adverse effects , Brazil , DNA Mutational Analysis , Dyskinesia, Drug-Induced/etiology , Dyskinesia, Drug-Induced/physiopathology , Exons/genetics , Female , Follow-Up Studies , Foot/physiopathology , Genotype , Humans , Levodopa/adverse effects , Male , Parkinsonian Disorders/drug therapy , Pedigree , Point Mutation/genetics
17.
Arq. neuropsiquiatr ; 58(4): 986-9, Dec. 2000.
Article in English | LILACS | ID: lil-273836

ABSTRACT

In this retrospective (1980-1998) study, we have analyzed clinico-demographically, from the records of the University Hospital of Fortaleza (Brazil), a group of 87 patients showing signs and symptoms of motor neuron diseases (MNDs). Their diagnosis was determined clinically and laboratorially. The WFN criteria were used for amyotrophic lateral sclerosis (ALS) diagnosis. The clinico-demographic analysis of the 87 cases of MNDs showed that 4 were diagnosed as spinal muscular atrophy (SMA), 5 cases as ALS subsets: 2 as progressive bulbar paralysis (PBP), 2 as progressive muscular atrophy (PMA) and 1 as monomelic amyotrophy (MA), and 78 cases of ALS. The latter comprised 51 males and 27 females, with a mean age of 42.02 years. They were sub-divided into 4 groups according to age: from 15 to 29 years (n= 17), 30 to 39 years (n= 18), 40 to 69 years (n= 39) and 70 to 78 years (n= 4). From the 78 ALS patients, 76 were of the classic sporadic form whilst only 2 were of the familial form. The analysis of the 87 patients with MNDs from the University Hospital of Fortaleza showed a predominance of ALS patients, with a high number of cases of juvenile and early onset adult sporadic ALS


Subject(s)
Humans , Male , Female , Adolescent , Adult , Middle Aged , Hospitals, University , Motor Neuron Disease/diagnosis , Amyotrophic Lateral Sclerosis/diagnosis , Brazil , Bulbar Palsy, Progressive/diagnosis , Muscular Atrophy, Spinal/diagnosis , Retrospective Studies , Risk Factors
18.
Arq. neuropsiquiatr ; 58(3B): 916-8, Sept. 2000.
Article in English | LILACS | ID: lil-273120

ABSTRACT

We report on the preliminary clinical and electrophysiological aspects of an in-patient possibly presenting epilepsia partialis continua (Koshevnikov). We discuss the different etiologies and emphasize on the possible idiopathic form in this case


Subject(s)
Humans , Adult , Female , Epilepsia Partialis Continua/physiopathology , Epilepsia Partialis Continua/etiology
19.
J. bras. neurocir ; 10(1): 30-32, jan.-abr. 1999. ilus
Article in Portuguese | LILACS | ID: lil-305010

ABSTRACT

Os autores apresentam um caso raro de um neurinoma cervical em paciente que vinha apresentando inicialmente sintomas relacionados com hidrocefalia. Os sintomas melhoraram inicialmente apos a colocaçäo de derivaçäo ventrículo-peritoneal (DVP), embora a tetraparesia progredisse. A TC de cronio pos-operatoria mostrou catéter ventricular bem posicionado e normalizado do tamanho dos ventrículos. Ressonancia magnética de coluna cervical revelou tumor intradural, extramedular, no nível. Apás a ressecçäo tumoral, houve importante melhora da tetraparesia. Em casos de hidrocefalia de causa desconhecida, deve-se procurar descartar a existência de tumores intraraquidianos.


Subject(s)
Hydrocephalus , Neurilemmoma , Quadriplegia , Spinal Cord Neoplasms , Ventriculoperitoneal Shunt
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