RESUMO
The identification of predictive factors of NAbs development might have a relevant impact on clinical practice. Our objective is to look after predictive factors of NAbs development in MS IFN Beta-1b-treated patients. Database was screened for patients on IFN Beta-1b treatment with an Expanded Disability Status Scale (EDSS) at a baseline between 1 and 3.5, disease duration shorter than 15 years, and NAbs analysis performed every 6 months. The NAbs positive status was analysed in relation to baseline clinical, neuropsychological and brain imaging measures. Forty-nine patients were included. Sixteen patients had become NAbs positive at some point on IFN therapy (35%). NAbs producers differed from not producers for higher incidence of cognitive deficit and higher lesion load (OR = 5.0 and 5.6, respectively). Our study suggests that NAbs development might be a marker of a more aggressive disease and that worse outcome in NAbs producers might be biased by baseline condition.
Assuntos
Adjuvantes Imunológicos/uso terapêutico , Anticorpos Neutralizantes/biossíntese , Interferon beta/uso terapêutico , Esclerose Múltipla Recidivante-Remitente/imunologia , Adolescente , Adulto , Progressão da Doença , Feminino , Humanos , Interferon beta-1b , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla Recidivante-Remitente/tratamento farmacológico , Esclerose Múltipla Recidivante-Remitente/patologia , Prognóstico , Estudos Retrospectivos , Adulto JovemRESUMO
We studied the factors that might influence onset age in Friedreich's ataxia in 41 cases (20 male, 21 female) homozygous for GAA expansion on the first intron of X25 gene. Patients came from 18 multiplex families (13 couples, 5 triplets). Mean age (SD) was 18.1 (8.9) years and did not differ by gender. Onset age and the sizes of the smaller (GAA1) and the larger (GAA2) allele in each pair showed high intrafamily correlation. We found an inverse correlation between age at onset and GAA1 size, but not between age at onset and GAA2 size. Stepwise multiple regression of onset age on GAA1 size, sibling onset age, and GAA2 size showed that GAA1 accounts for 73% of onset age variance, and sibling onset age for an additional 13%. The study demonstrates that, in addition to GAA expansion size, other environmental or genetic familial factors influence disease expression.
Assuntos
Ataxia de Friedreich/epidemiologia , Adolescente , Adulto , Idade de Início , Alelos , Criança , Feminino , Ataxia de Friedreich/genética , Humanos , Itália , Masculino , Fatores de Risco , Repetições de Trinucleotídeos/genéticaRESUMO
Since patients with post-traumatic, neurologic, movement disorders often seek legal counsel and become involved in litigation, we used this group of disorders as a model for testing the hypothesis that an interaction with the legal system may influence its outcome. We reviewed 100 consecutive medical records of patients with post-traumatic movement disorders from the Movement Disorders Clinic at the Baylor College of Medicine. Additionally, 40 patients completed a detailed questionnaire and a health survey. Nineteen of the 40 respondents had obtained legal representation in regards to compensation for their medical problems. The group of patients with attorneys differed from those without legal representation in that they were significantly younger and a significantly higher percentage of these patients were disabled as compared to the group without attorneys. While most were dissatisfied with the legal system, 68% were satisfied with services provided by their attorneys. Although the patients with legal aspects of their movement disorders seemed to have more severe and persistent disability, we could not definitely conclude that the legal system had adversely affected the outcome of the post-traumatic movement disorders.
Assuntos
Medicina Legal/legislação & jurisprudência , Responsabilidade Legal , Imperícia/legislação & jurisprudência , Transtornos dos Movimentos/etiologia , Ferimentos e Lesões/complicações , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Pessoas com Deficiência/legislação & jurisprudência , Feminino , Indicadores Básicos de Saúde , Humanos , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Prognóstico , Qualidade de Vida , Resultado do Tratamento , Avaliação da Capacidade de TrabalhoRESUMO
The Texas Legislature in 1993 mandated a quarterly reporting requirement for hospitals and physicians performing electroconvulsive therapy (ECT) in the state (United States Government hospitals were excluded). The Texas Department of Mental Health and Mental Retardation (TDMHMR) was designated as the agency responsible for collecting and maintaining the data. This paper reviews the ECT data from 16 quarterly reports (09/01/93 through 08/31/97). The reports contained data on 41,660 ECT treatments in approximately 5971 patients. The results of this study support the proposition that ECT is an extremely safe and effective treatment for those individuals suffering from a serious mental illness. In Texas, ethnic groups other than non-Hispanic Anglo-Americans appear to be underserved in regards to ECT. Those patients without appropriate insurance or adequate personal finds are also underserved as a result of the few county and state hospitals performing ECT and the relatively small number of patients treated with ECT at those hospitals. Recommendations are suggested to improve the quality of the database and in informing the public as to the safety and efficacy of this valuable treatment modality. What, at first, was seen as an unwarranted legislative foray into the practice of medicine, has, in the end, become a source of valuable data supporting the use of ECT as an important treatment modality.
Assuntos
Eletroconvulsoterapia/estatística & dados numéricos , Transtornos Mentais/terapia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Coleta de Dados , Demografia , Etnicidade , Feminino , Psiquiatria Legal , Humanos , Masculino , Auditoria Médica , Pessoa de Meia-Idade , TexasRESUMO
Since mid-1993, all ECT treatments performed in the state of Texas (except for United States government hospitals) must be reported every quarter to the Texas Department of Mental Health and Mental Retardation (TXMHMR) on a data collection form provided by the Department. Part 1 of this paper reviewed that data. This paper reviews the responses to questionnaires and contacts made with physicians, hospitals, medical liability insurance companies, and manufacturers of stimulus generating devices regarding their experience with ECT in Texas. Questionnaires were sent to physicians and hospitals that had not performed ECT during the final two quarters of the review period. Medical liability insurance companies and the manufacturers of the stimulus generating equipment used in ECT were contacted regarding their experience with liability claims. The results indicate that medical liability in regards to the performance of ECT is extremely low. Physicians and hospitals that stopped performing ECT did so for reasons other than medical liability.
Assuntos
Eletroconvulsoterapia/economia , Seguro de Responsabilidade Civil , Responsabilidade Legal , Adulto , Idoso , Eletroconvulsoterapia/instrumentação , Eletroconvulsoterapia/estatística & dados numéricos , Feminino , Psiquiatria Legal , Pesquisas sobre Atenção à Saúde , Hospitais , Humanos , Masculino , Pessoa de Meia-Idade , Médicos , TexasRESUMO
Organized medicine has spent a great deal of time, energy, and money attempting to revise the legal tort system. Yet, change, if any, has been incredibly slow. There are many reasons for this. Tort law has been a part of American jurisprudence for hundreds of years. In addition, most state legislatures are populated with large numbers of attorneys. This paper explores the economic factors that underlie the litigation process in medical negligence/malpractice cases. It suggests that the current tort system is not as antimedicine as physicians commonly believe; rather, it is physician-friendly. Presented here is a more efficient and cost-effective method of addressing medical negligence/malpractice cases. An exclusive relationship between the liability insurance carrier and a defense law firm is proposed. Rather than using the old billable hours system to charge for its services, the defense law firm negotiates a yearly retainer based upon a percentage of the annual liability insurance premiums paid. How this relationship would result in a more efficient and cost-effective approach to the present tort system is examined.
Assuntos
Jurisprudência , Contabilidade , Análise Custo-Benefício , Economia , Eficiência Organizacional , Humanos , Seguro de Responsabilidade Civil/economia , Seguro de Responsabilidade Civil/legislação & jurisprudência , Relações Interinstitucionais , Imperícia/economia , Imperícia/legislação & jurisprudência , Texas , Estados UnidosRESUMO
The medical profession has many avenues by which to improve the present tort system as it regards medical negligence cases. One such avenue is a medical society sponsored expert witness program through which medical societies can assure that each case is being evaluated properly by an ethical and responsible physician. This effort will assist attorneys in weeding out medical negligence cases that are without merit and shepherding meritorious cases towards appropriate settlement. Such a program would be a positive step in discouraging the legal profession's use of the "professional expert." Finally, such a program might also provide funds for other worthwhile medical/legal projects.
Assuntos
Prova Pericial/normas , Imperícia/legislação & jurisprudência , Revisão dos Cuidados de Saúde por Pares/legislação & jurisprudência , Sociedades Médicas , Humanos , Inovação Organizacional , TexasRESUMO
Organized medicine has spent a great deal of time, energy, and money attempting to revise the legal tort system. Yet, change, if any, has been incredibly slow. There are many reasons for this. Tort law has been a part of American jurisprudence for hundreds of years. In addition, most state legislatures are populated with large numbers of attorneys. This paper explores the economic factors that underlie the litigation process in medical negligence/malpractice cases. It suggests that the current tort system is not as antimedicine as physicians commonly believe, rather, it is physician-friendly. Presented here is a more efficient and cost-effective method of addressing medical negligence/malpractice cases. An exclusive relationship between the liability insurance carrier and a defense law firm is proposed. Rather than using the old billable hours system to charge for its services, the defense law firm negotiates a yearly retainer based upon a percentage of the annual liability insurance premiums paid. How this relationship would result in a more efficient and cost-effective approach to the present tort system is examined.
Assuntos
Imperícia/legislação & jurisprudência , Humanos , Responsabilidade LegalRESUMO
Texas physicians do not have a statutory duty to warn potential victims of their patients' violent conduct but may warn medical or law enforcement authorities if the patient is a danger to himself, to the treating physician, or to others. Moreover, the Medical Practice Act of Texas does not authorize even permissive exceptions to confidentiality, thereby preventing physicians from legally warning victims. Nonetheless, 5 Texas appellate courts already have addressed a clinician's duty to issue protective warnings to reasonably identifiable victims. The approaches of these 5 courts have been similar, but important differences warrant attention. In 1998, the Supreme Court of Texas, in a fact-specific decision, did not adopt a duty for physicians to protect third persons from their patients' violent acts. All Texas physicians should become familiar with the emerging jurisprudence of professional protective responsibilities and liabilities to third persons who can be harmed physically by their patients' violent conduct.
Assuntos
Responsabilidade pela Informação/legislação & jurisprudência , Serviços de Saúde Mental/legislação & jurisprudência , Psiquiatria/legislação & jurisprudência , Feminino , Homicídio/legislação & jurisprudência , Humanos , Responsabilidade Legal , Masculino , TexasRESUMO
Although the micronutrient deficiencies and the related neurological manifestations are widely reported after malabsorbitive weight loss surgery, little is known about cerebral dysfunction secondary to micronutrient impairment in subjects undergoing restrictive interventions (that is, sleeve gastrectomy). We describe a case of a 27-year-old woman with a late development of a Wernicke's encephalopathy (WE) and of severe polyneuropathy following a sleeve gastrectomy without any sleeve stenosis. The impact of WE after bariatric surgery is significantly underestimated. Such a risk should be taken into consideration also after restrictive weight loss surgery. Thus, surgeon/clinicians involved in bariatric patients management must be aware of neurological sequelae related to this intervention.
Assuntos
Cirurgia Bariátrica/efeitos adversos , Gastrectomia/efeitos adversos , Laparoscopia/efeitos adversos , Micronutrientes/deficiência , Polineuropatias/etiologia , Complicações Pós-Operatórias , Encefalopatia de Wernicke/etiologia , Adulto , Feminino , Humanos , Desnutrição/etiologia , Obesidade Mórbida/cirurgiaAssuntos
Balão Gástrico/efeitos adversos , Encefalopatia de Wernicke/fisiopatologia , Adulto , Índice de Massa Corporal , Feminino , Ácido Fólico/administração & dosagem , Humanos , Micronutrientes/deficiência , Fatores de Risco , Tiamina/administração & dosagem , Vitamina B 12/administração & dosagem , Encefalopatia de Wernicke/etiologiaRESUMO
An adult Caucasian female developed a previously unreported association of pelvic endometriosis (PE) with the triad of alopecia universalis (AU), autoimmune thyroiditis (AT) and multiple sclerosis (MS). Molecular human leukocyte antigen (HLA)-tissue typing of this subject showed the presence of the DR(2) 15 and DR(3) 17 alleles, which are associated to an increased risk of MS and AT, respectively. Clinical onset of AT followed withdrawal of corticosteroid treatment for AU, whereas MS become clinically evident after withdrawal from long-term estroprogestin therapy for PE. This clinical case is presented to discuss the autoimmune origin of PE, its possible association with multiple autoimmune disorders as well as the effect of other factors, such as administration and/ or discontinuation of specific hormonal regimens, on genetic autoimmunity-prone background.
Assuntos
Alopecia/complicações , Endometriose/complicações , Endometriose/imunologia , Esclerose Múltipla/complicações , Tireoidite Autoimune/complicações , Adolescente , Autoanticorpos/sangue , Feminino , Hormônios/efeitos adversos , Hormônios/sangue , Hormônios/uso terapêutico , Humanos , Esclerose Múltipla/genética , Tireoidite Autoimune/genéticaRESUMO
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal-recessive disorder caused by mutations in the PANK2 gene. The authors report clinical and genetic findings of 16 patients with PKAN. The authors identified 12 mutations in the PANK2 gene, five of which were new. Only nine patients could be classified as classic or atypical PKAN, and intermediate phenotypes are described. Two patients presented with motor tics and obsessive-compulsive behavior suggestive of Tourette syndrome.
Assuntos
Encefalopatias Metabólicas Congênitas/genética , Transtornos Heredodegenerativos do Sistema Nervoso/genética , Mutação/genética , Neurodegeneração Associada a Pantotenato-Quinase/genética , Fosfotransferases (Aceptor do Grupo Álcool)/genética , Adolescente , Adulto , Encefalopatias Metabólicas Congênitas/enzimologia , Encefalopatias Metabólicas Congênitas/fisiopatologia , Criança , Coenzima A/biossíntese , Análise Mutacional de DNA , Feminino , Testes Genéticos , Globo Pálido/metabolismo , Globo Pálido/patologia , Globo Pálido/fisiopatologia , Transtornos Heredodegenerativos do Sistema Nervoso/enzimologia , Transtornos Heredodegenerativos do Sistema Nervoso/fisiopatologia , Humanos , Ferro/metabolismo , Distúrbios do Metabolismo do Ferro/enzimologia , Distúrbios do Metabolismo do Ferro/genética , Distúrbios do Metabolismo do Ferro/fisiopatologia , Masculino , Transtornos Mentais/enzimologia , Transtornos Mentais/genética , Transtornos Mentais/fisiopatologia , Pessoa de Meia-Idade , Transtorno Obsessivo-Compulsivo/enzimologia , Transtorno Obsessivo-Compulsivo/genética , Transtorno Obsessivo-Compulsivo/fisiopatologia , Neurodegeneração Associada a Pantotenato-Quinase/enzimologia , Neurodegeneração Associada a Pantotenato-Quinase/fisiopatologia , Fenótipo , Tratos Piramidais/fisiopatologia , Tiques/enzimologia , Tiques/genética , Tiques/fisiopatologiaRESUMO
Atresia of the colon is a rare congenital anomaly. In 1673, Binninger reported the first case of colonic atresia and Gaub reported the first survival of a patient with this anomaly in 1922. Since that time there have been 97 successfully managed patients described in the literature.
Assuntos
Colo/anormalidades , Atresia Intestinal , Colo/diagnóstico por imagem , Colo/cirurgia , Humanos , Recém-Nascido , Atresia Intestinal/diagnóstico por imagem , Atresia Intestinal/cirurgia , Masculino , RadiografiaRESUMO
A form of autosomal recessive spastic ataxia (ARSACS) has been described in the Charlevoix and Saguenay regions of Quebec. So far a frameshift and a nonsense mutation have been identified in the SACS gene. The authors report a new mutation (1859insC), leading to a frameshift with a premature termination of the gene product sacsin, in two sisters from consanguineous parents. The phenotype is similar to previously described patients with ARSACS.
Assuntos
Ataxia Cerebelar/diagnóstico , Ataxia Cerebelar/genética , Proteínas de Choque Térmico/genética , Mutação/genética , Adulto , Idade de Início , Ataxia Cerebelar/complicações , Consanguinidade , Análise Mutacional de DNA , Progressão da Doença , Feminino , Genes Recessivos , Ligação Genética , Testes Genéticos , Haplótipos , Perda Auditiva/complicações , Perda Auditiva/diagnóstico , Humanos , Deficiência Intelectual/complicações , Deficiência Intelectual/diagnóstico , Itália , Espasticidade Muscular/complicações , Espasticidade Muscular/diagnóstico , Fibras Nervosas Mielinizadas/patologia , Condução Nervosa , Fenótipo , Irmãos , Nervo Sural/patologiaRESUMO
Ataxia with oculomotor apraxia type 1 (AOA1) is an autosomal recessive disorder characterized by early-onset cerebellar ataxia, oculomotor apraxia, and peripheral neuropathy. The causative gene (APTX) has been recently identified in Portuguese and Japanese kindreds. Three patients with AOA1 were identified in an APTX mutation screening on 28 Southern Italian patients with progressive ataxia and peripheral neuropathy. A novel homozygous missense mutation (H201Q) was found in one patient and a Japanese missense mutation (P206L) in two. AOA1 clinical heterogeneity and onset later than previously described are shown.
Assuntos
Apraxias/genética , Ataxia Cerebelar/genética , Proteínas de Ligação a DNA/genética , Heterogeneidade Genética , Proteínas Nucleares/genética , Adolescente , Adulto , Idade de Início , Substituição de Aminoácidos , Apraxias/epidemiologia , Ataxia Cerebelar/epidemiologia , Criança , Códon/genética , Consanguinidade , Proteínas de Ligação a DNA/deficiência , Movimentos Oculares , Fasciculação/epidemiologia , Fasciculação/genética , Feminino , Genes Recessivos , Humanos , Hipoalbuminemia/epidemiologia , Hipoalbuminemia/genética , Itália/epidemiologia , Masculino , Mutação de Sentido Incorreto , Proteínas Nucleares/deficiência , Doenças do Sistema Nervoso Periférico/epidemiologia , Doenças do Sistema Nervoso Periférico/genética , Fenótipo , Mutação PuntualRESUMO
The accuracy of the diagnostic criteria for Friedreich's ataxia proposed by Harding and by the Quebec Cooperative Study on Friedreich's Ataxia was studied in 142 patients with progressive unremitting ataxia of autosomal recessive inheritance or sporadic occurrence. Eighty-eight patients received the molecular diagnosis of Friedreich's ataxia. Traditional diagnostic criteria are characterized by high specificity, but they yield a high number of false-negative diagnoses. We suggest three levels of diagnostic certainty: (1) possible Friedreich's ataxia, defined as sporadic or recessive progressive ataxia with (a) lower limb areflexia and dysarthria, Babinski sign, or electrocardiographic repolarization abnormalities, or (b) with lower limb retained reflexes and electrocardiographic repolarization abnormalities (95% sensitivity and 88% positive predictive value); (2) probable Friedreich's ataxia as defined by Harding's criteria (63% sensitivity and 96% positive predictive value) or by Quebec Cooperative Study on Friedreich's Ataxia criteria (63% sensitivity and 98% positive predictive value); (3) definite diagnosis, molecularly confirmed.
Assuntos
Ataxia de Friedreich/diagnóstico , Ataxia de Friedreich/genética , Mutação Puntual , Adolescente , Adulto , Idade de Início , Criança , Pré-Escolar , Análise Mutacional de DNA/métodos , Diagnóstico Diferencial , Feminino , Heterozigoto , Homozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Padrões de Referência , Sensibilidade e Especificidade , Expansão das Repetições de TrinucleotídeosRESUMO
BACKGROUND: A complicated form of recessive hereditary spastic paraplegias (HSPs) with thin corpus callosum (TCC) was first described in Japan, and most of the Japanese families showed linkage to chromosome 15q13-15. A recessive HSP locus (SPG11) has also been mapped to chromosome 15q13-15 in Italian and North American families with and without TCC, and it overlaps the region identified in the Japanese families. OBJECTIVE: To study clinically and genetically 12 Italian families with HSP and TCC. METHODS: The authors investigated 18 affected and 30 healthy individuals from 12 unrelated Italian families with recessive HSP-TCC. Clinical, neurophysiologic, and neuroradiologic studies were undertaken. All patients were negative for SPG7 mutations. Genetic linkage analyses were carried out with polymorphic DNA markers on 15q13-15. RESULTS: Five families were consistent with linkage, thus defining a 19.8-cM region between markers D15S1007 and D15S978, encompassing the SPG11 interval. In one consanguineous family, linkage could be firmly excluded, confirming genetic heterogeneity. Two families appeared not linked to the region, but this could not be firmly proved because of the small family size. The remaining four families were uninformative for linkage purposes. CONCLUSION: HSP-TCC is common in Italy. The phenotype is fairly homogeneous and is associated with impaired cognition. There are at least two loci for HSP-TCC, one of which is on chromosome 15q13-15.