RESUMO
We performed a systematic study on the frequency of point mutations and deletions of the gene GCH1 in dopa-responsive dystonia (DRD). A total of 136 dystonia patients were studied. Fifty of these had a sustained response to oral L-Dopa therapy (group 1: definite diagnosis of DRD), whereas the response to L-Dopa was incomplete or not tested in 86 patients (group 2: possible diagnosis of DRD). We found a GCH1 point mutation in 27 patients of group 1 (54%) and in four patients of group 2 (5%). Of these, nine single and one double mutation have not been described before. GCH1 deletions were detected in four patients of group 1 (8%) and in one patient of group 2 (1%). Among GCH1 point-mutation-negative patients with a definite diagnosis of DRD (group 1), the frequency of GCH1 deletions was 17% (4/23). We conclude that GCH1 deletion analysis should be incorporated into the routine molecular diagnosis of all patients with DRD with a sustained response to L-Dopa.
Assuntos
Antiparkinsonianos/uso terapêutico , Deleção Cromossômica , Distúrbios Distônicos/genética , GTP Cicloidrolase/genética , Frequência do Gene , Levodopa/uso terapêutico , Mutação Puntual , Adolescente , Adulto , Criança , Pré-Escolar , Aberrações Cromossômicas , Estudos de Coortes , Análise Mutacional de DNA , Distúrbios Distônicos/diagnóstico , Distúrbios Distônicos/tratamento farmacológico , Feminino , Genes Dominantes , Humanos , Lactente , Masculino , Repetições de Microssatélites , Penetrância , Análise de Sequência de ProteínaRESUMO
The anatomy of the distal radius confounds the assessment of fracture displacement of the lunate facet. Since reduction of the articular surface is paramount to obtaining good clinical results, this study was designed to evaluate whether a radiograph taken 22 degrees from true lateral (forearm held at a 22 degrees angle from the horizontal film cassette) would enhance the accuracy of measuring displacement. Fifteen lunate facet fractures of varying depression were produced in 7 fresh cadaveric wrists. Posteroanterior (PA), standard lateral, and 22 degrees tilted lateral radiographs were obtained of each fracture pattern. Four observers reviewed the films and measured the depression of the fragments from their anatomic position. Measurement error from actual depression averaged 1.1 mm when the evaluators evaluated the 22 degrees lateral and PA films, 1.5 mm for the standard lateral and PA views, and 0.8 mm for the standard lateral, 22 degrees lateral, and PA radiographs (combined group). The decrease in measurement error obtained from all 3 groups was statistically significant. The results of this study suggest that the 22 degrees tilted lateral, either in combination with the standard lateral radiograph or just with the PA view, may help the hand surgeon better understand the intra-articular depression of lunate facet fractures of the distal radius.
Assuntos
Fraturas do Rádio/diagnóstico por imagem , Cadáver , Humanos , Radiografia/métodosRESUMO
A case of Mycobacterium phlei infection in the flexor digitorum longus and posterior tibialis tendon of an otherwise healthy adult male is reported. To our knowledge, this is the second reported case in the English literature of human infection by M. phlei. Diagnosis and treatment of nontuberculous mycobacterial infection are discussed. The clinician is encouraged to include this infection in the differential diagnosis of pain and swelling in the extremity.
Assuntos
Doenças do Pé/diagnóstico , Doenças do Pé/microbiologia , Infecções por Mycobacterium/diagnóstico , Mycobacterium phlei/isolamento & purificação , Biópsia , Ciprofloxacina/uso terapêutico , Claritromicina/uso terapêutico , Diagnóstico Diferencial , Quimioterapia Combinada/uso terapêutico , Doenças do Pé/terapia , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Infecções por Mycobacterium/patologia , Infecções por Mycobacterium/terapiaRESUMO
The authors conducted a study to examine the association between neuropsychological markers of central nervous system impairment and systemic human immunodeficiency virus (HIV) disease progression in a sample of 64 HIV-positive asymptomatic patients who were followed for a median of 45.6 months. Patients with poorer baseline scores on the Halstead-Reitan Trail-Making A neuropsychological test developed HIV-related systemic symptoms earlier over the study period than patients with the higher scores on the same test (P < 0.05). Subclinical neuropsychological dysfunction in otherwise asymptomatic HIV-infected individuals may be a harbinger of progressive HIV-related immunologic dysfunction.
Assuntos
Doenças do Sistema Nervoso Central/diagnóstico , Soropositividade para HIV/diagnóstico , Testes Neuropsicológicos , Síndrome da Imunodeficiência Adquirida/complicações , Síndrome da Imunodeficiência Adquirida/diagnóstico , Síndrome da Imunodeficiência Adquirida/fisiopatologia , Sistema Nervoso Central/fisiopatologia , Doenças do Sistema Nervoso Central/fisiopatologia , Transtornos Cognitivos/complicações , Transtornos Cognitivos/fisiopatologia , Feminino , Humanos , Sistema Imunitário/fisiopatologia , Estudos Longitudinais , MasculinoRESUMO
The present study examined the clinical efficacy of a bed alarm system in reducing falls from bed on a geriatric evaluation and treatment unit. A nine-month case-controlled study was designed, in which 70 patients (60 women, 10 men; mean age 84 years, range 67-97 years) at increased risk for bed falls were randomly assigned to either an experimental or a control group. Subjects in the experimental group (n = 35) received a bed alarm system and those in the control group (n = 35) did not. Outcome measures included bed falls, performance of the bed alarm system, and staff attitudes toward the use of the system. Although results failed to demonstrate a statistical difference in bed falls between the experimental (n = 1) and control (n = 4) groups (p = 1.00), there was a clinical trend toward reduced falls in the experimental group. The system functioned properly, activating an alarm in all instances when patients were transferring from bed, and with the exception of one case, nurses could respond in a timely fashion to assist patients and prevent bed falls. The system did not produce any adverse effects in patients, nor did the device interfere with the rendering of medical care. The system was well accepted by patients, families, and nurses. These data suggest that bed alarm systems are beneficial in guarding against bed falls and are an acceptable method of preventing falls.
Assuntos
Acidentes por Quedas/prevenção & controle , Leitos , Segurança , Idoso , Idoso de 80 Anos ou mais , Feminino , Unidades Hospitalares , Humanos , MasculinoRESUMO
A total of 101 children (47 males, 54 females; age range, 3 months-16 years) with mild to moderate upper or lower respiratory tract infections, or skin and soft tissue infections entered a clinical study conducted at two centres in Izmir, Turkey. The children received a mean daily dose of 25 mg/kg sultamicillin oral suspension administered as two equal doses approximately 12 h apart. In total, 100 children met all requirements for evaluability and were included in the clinical efficacy assessment, and 49 children were evaluated for bacteriological efficacy. Clinical cure was reported by the investigators in 93 patients, improvement in six and failure in only one. The bacteriological eradication rate of isolated pathogens was 100%. Of the 101 patients evaluated for drug safety, four experienced adverse drug-related or possibly drug-related reactions. All side-effects were gastro-intestinal and diarrhoea was reported in three patients. No discontinuation of therapy was reported, nor were any significant laboratory abnormalities recorded.
Assuntos
Ampicilina/administração & dosagem , Infecções Bacterianas/tratamento farmacológico , Sulbactam/administração & dosagem , Administração Oral , Adolescente , Ampicilina/efeitos adversos , Criança , Pré-Escolar , Doenças do Tecido Conjuntivo/tratamento farmacológico , Esquema de Medicação , Quimioterapia Combinada/administração & dosagem , Quimioterapia Combinada/efeitos adversos , Feminino , Humanos , Lactente , Masculino , Infecções Respiratórias/tratamento farmacológico , Dermatopatias Bacterianas/tratamento farmacológico , Sulbactam/efeitos adversos , SuspensõesRESUMO
Intravenous (i.v.) drug users are a key factor in the transmission of human immunodeficiency virus (HIV) infection, yet epidemiologic information about this population, especially those with acquired immunodeficiency syndrome, is scarce. The demographic characteristics, drug use behavior, and sexual practices of i.v. drug users who developed AIDS were prospectively studied at the Montefiore Medical Center from October 1984 to February 1988. The early wave of i.v. drug users with AIDS was characterized by poverty, minority overrepresentation (more than 80 percent were black or Hispanic), and initiation of i.v. drug use at an early age (median age 19 years). Injection of drugs and sharing of needles was frequent. Most had used so-called shooting galleries, but only for a minority of injection episodes. Heroin or cocaine use was almost universal, nearly always accompanied by abuse of another substance, usually alcohol or marijuana. Fewer than a third had ever participated in a methadone maintenance program, but more than 40 percent had been in prison since 1978. All patients had been sexually active, often with partners who were not i.v. drug users. The research suggests a complex interaction existing between high-risk demographic characteristics, drug use practice, and certain types of sexual behavior, all of which contributed to the early spread of HIV infection in this population. Efforts that are directed toward interrupting i.v. drug user-related transmission of HIV need to include consideration of these characteristics.
Assuntos
Síndrome da Imunodeficiência Adquirida/epidemiologia , Comportamento Sexual/estatística & dados numéricos , Abuso de Substâncias por Via Intravenosa/epidemiologia , Síndrome da Imunodeficiência Adquirida/complicações , Síndrome da Imunodeficiência Adquirida/transmissão , Adulto , Cocaína , Feminino , Heroína , Humanos , Masculino , Cidade de Nova Iorque/epidemiologia , Fatores de Risco , Classe SocialRESUMO
To further study the possibility of transmission of HIV infection by close personal but non-sexual, non-parenteral contact we have continued to enroll and evaluate household contacts of adult patients with AIDS. Two hundred and six household contacts of 90 patients with AIDS were evaluated with detailed interviews, physical examinations, and detection of HIV antibodies and p24 antigen from 1984 to 1987; 118 of these contacts were re-evaluated 6-12 months after cessation of household contact or death of the patient. The median duration of household contact from 18 months prior to symptoms in the AIDS patients to last contact was 23 months (range 3-101 months). The median time elapsed from first contact during this period to the last evaluation was 38 months (range 13-66 months). No household contact had signs or symptoms suggesting HIV infection. All 206 were negative for serum antibodies to HIV and HIV p24 antigen, despite extensive sharing of household facilities and items and personal interactions with AIDS patients. This study continues to show that household members without other risks remain at minimal to no risk for HIV transmission (95% confidence interval, 0-1.44) despite prolonged and substantial close non-sexual contact with AIDS patients, and after re-evaluation at a median of 10.9 months after initial evaluation.
Assuntos
Infecções por HIV/transmissão , Síndrome da Imunodeficiência Adquirida/transmissão , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Produtos do Gene gag/sangue , Anticorpos Anti-HIV/sangue , Antígenos HIV/sangue , Proteína do Núcleo p24 do HIV , Infecções por HIV/imunologia , Infecções por HIV/microbiologia , Habitação , Humanos , Masculino , Fatores de Risco , Fatores de Tempo , Proteínas do Core Viral/sangueRESUMO
A prospective longitudinal study of neuropsychological and psychosocial functioning in a methadone-maintained population was initiated to test the hypothesis that cognitive impairments may be present early in the course of HIV infection, before the onset of other physical symptoms. A total of 220 methadone-clinic patients without evidence of HIV-related illnesses were given baseline psychological screening tests, as well as serological testing for HIV antibodies. At baseline, 83 (38%) had antibodies to HIV and 137 (62%) did not. On initial testing, controlling for race/ethnicity, age, sex and drug use, the seropositives were more cognitively impaired than the seronegatives. The differences were statistically significant for three subtests on univariate analysis: finger tapping (dominant), digit span (forward) and similarities. Ninety-one patients whose current serological status was known were given follow-up neuropsychological and psychosocial assessments after a mean interval of 7.4 months from baseline testing. At follow-up, seropositives continued to be more cognitively impaired than seronegatives, but there was no deterioration in the performance of the initial seropositives over the time interval.
Assuntos
Soropositividade para HIV/psicologia , Testes Neuropsicológicos , Adaptação Psicológica , Negro ou Afro-Americano , Família , Feminino , Seguimentos , Anticorpos Anti-HIV/análise , Soropositividade para HIV/complicações , Hispânico ou Latino , Humanos , Masculino , Metadona , Estudos Prospectivos , Parceiros Sexuais , Apoio Social , Abuso de Substâncias por Via Intravenosa/complicações , População BrancaRESUMO
While uterine papillary serous carcinoma (UPSC) has been well described as a virulent subtype of endometrial adenocarcinoma (AC), with behavior similar to that of papillary serous ovarian carcinoma, the papillary endometrial (PE) variant has not been well characterized. We studied 117 patients with endometrial carcinoma identified by our tumor registry, pathology files, and practice records from March 1981 to February 1989: 76 with AC, 26 with PE, and 15 with UPSC. Age and demographic data were similar for all three groups. All of the AC patients, 84% of PE patients, and 87% of UPSC patients had early-stage disease by clinical exam; however, 10% of AC patients, 23% of PE patients, and 87% of UPSC patients had extrauterine disease at surgery (P less than 0.05). Deep myometrial invasion occurred in 29% of AC patients, 36% of PE patients, and 60% of UPSC patients (P less than 0.05). Comparative analysis of the PE and UPSC groups revealed more marked nuclear anaplasia (P less than 0.05) and more frequent vascular space involvement (nonsignificant) in the UPSC group. At 3 years, 75% of the AC group was alive without disease. In contrast, the median progression-free interval for the PE group was 33 months, and for the UPSC group, 9 months (P less than 0.05). These data suggest a transition of increasing virulence corresponding with increasing papillary features, from AC to PE to UPSC. The papillary feature may be a new, significant risk factor in endometrial carcinoma.
Assuntos
Carcinoma Papilar/patologia , Neoplasias Uterinas/patologia , Antígenos Glicosídicos Associados a Tumores/análise , Carcinoma Papilar/imunologia , Feminino , Humanos , Invasividade Neoplásica , Estadiamento de Neoplasias , Estudos Retrospectivos , Fatores de Risco , Neoplasias Uterinas/imunologia , Esfregaço VaginalRESUMO
To identify risk factors for human immunodeficiency virus (HIV) infection in intravenous drug users, we undertook a study of the seroprevalence of HIV antibody in 452 persons enrolled in a methadone-treatment program in the Bronx, New York. The seroprevalence of HIV was 39.4 percent overall, 49.1 percent in blacks, 41.8 percent in Hispanics, and 17.2 percent in non-Hispanic whites (P less than 0.001 for all comparisons). The presence of HIV antibody was associated with the number of injections per month (P less than 0.001), the percentage of injections with used needles (P less than 0.001), the average number of injections with cocaine per month (P less than 0.001), and the percentage of injections with needles that were shared with strangers or acquaintances (P less than 0.001), a practice that was more common among blacks and Hispanics than among whites. The number of heterosexual sex partners who used intravenous drugs was associated with HIV infection in women (P less than 0.004) and was the only risk factor found for users who had not injected drugs after 1982 (P less than 0.05). The presence of HIV antibody was independently associated with being black or Hispanic (adjusted odds ratio, 4.56; 95 percent confidence interval, 2.65 to 8.14), a more recent year of the last injection of drugs (adjusted odds ratio, 1.24; 95 percent confidence interval, 1.13 to 1.35), the percentage of injections of drugs that took place in "shooting galleries" (adjusted odds ratio, 1.49; 95 percent confidence interval, 1.19 to 1.88), having sex partners who used intravenous drugs (adjusted odds ratio 1.24; 95 percent confidence interval, 1.06 to 1.45), and low income (adjusted odds ratio, 1.55; 95 percent confidence interval, 1.10 to 2.17). We conclude that differences in both the social setting of drug use and behavior related to injection carry different risks for infection with HIV and may explain, in part, the higher seroprevalence of HIV among blacks and Hispanics. In addition, we found that heterosexual activity was an independent risk factor for drug users.
Assuntos
Síndrome da Imunodeficiência Adquirida/transmissão , Transtornos Relacionados ao Uso de Substâncias , Adulto , Negro ou Afro-Americano , Etnicidade , Feminino , Anticorpos Anti-HIV/análise , Soropositividade para HIV/epidemiologia , Humanos , Renda , Injeções Intravenosas , Masculino , Agulhas , Cidade de Nova Iorque , Fatores de Risco , Comportamento Sexual , Meio Social , População BrancaRESUMO
In order to add to the data on women surgeons as well as to clarify concerns raised in the literature, a questionnaire survey of fully trained women surgeons was conducted between 1983 and 1986. The 386 responses were analyzed and the results are presented here. Findings show that women surgeons are young (median age 37), board certified (77%), and practicing in varied settings. They work a median of 60 hours per week, are progressing academically (54% assistant, 20% associate, and 7% full professors), and are involved in professional organizations (98%). They feel that their family responsibilities have enhanced their lives and benefited their careers. The majority (88%) would choose to be surgeons again. Worrisome findings warranting further investigation are the disparity in earnings between male and female surgeons and the gender related problems still experienced by significant numbers of women during the application and residency process. Additional studies are needed to define and clarify the career patterns of women surgeons.
Assuntos
Cirurgia Geral , Médicas/provisão & distribuição , Feminino , Humanos , Fatores Socioeconômicos , Estados Unidos , Recursos HumanosRESUMO
Two hundred and sixty-one intravenous (IV) drug users, distributed between a methadone maintenance program and a large detention facility in New York City, were interviewed about knowledge of AIDS, needle use practices, and risk-reduction efforts. Ninety-seven per cent of subjects recognized needle-sharing as an AIDS risk factor; subjects showed less awareness about the effectiveness of certain risk-reduction techniques and tended to over-estimate the risk of casual contact. Of those still sharing needles at the time of first becoming aware of AIDS, 63% reported having subsequently either stopped needle-sharing or ceased IV drug use entirely. Logistic regression analysis indicated that continued needle-sharing behavior was associated with the detention facility site and lower scores on an AIDS knowledge questionnaire; reduced needle-sharing was more evident among methadone program patients and among subjects with greater knowledge about AIDS. The most common reasons for continued needle-sharing among those who continued to share needles despite knowledge of risk were: 'need to inject drugs, with no clean needle available' and 'only share with close friend or relative', offered by 46 and 45% of subjects, respectively. Results suggest that certain subgroups of IV drug users have adopted risk-reduction measures in response to AIDS. Expanded educational programs, increased drug treatment capacity, and additional strategies addressing drug users' access to sterile injection equipment and the social context of needle-sharing may be necessary to curb the further spread of AIDS among IV drug users.
Assuntos
Síndrome da Imunodeficiência Adquirida/psicologia , Transtornos Relacionados ao Uso de Substâncias/psicologia , Síndrome da Imunodeficiência Adquirida/prevenção & controle , Síndrome da Imunodeficiência Adquirida/transmissão , Adulto , Comportamento , Feminino , Educação em Saúde , Humanos , Injeções Intravenosas/efeitos adversos , Masculino , Pessoa de Meia-Idade , Cidade de Nova Iorque , Fatores de Risco , Transtornos Relacionados ao Uso de Substâncias/complicaçõesRESUMO
The risk of nosocomial pneumonia following emergency or urgent endotracheal intubation was studied prospectively. Pneumonia developed in 35 of 78 (45%) patients within three days of intubation. No differences in age, sex, underlying illness, respiratory infection, or antibiotic use were found between those with or without pneumonia. There were also no differences in the frequency of complications occurring during intubation. Patients developing pneumonia tended to have the same organisms isolated from the sputum at the time of intubation and at the time of diagnosis of pneumonia (9 of 20 were identical, 5 differed by a single organism). Sputum cultures taken at the time of intubation were helpful in predicting the subsequent pathogens in patients who developed pneumonia. There were no differences in mortality between patients with (29%) and without (28%) pneumonia. Emergency endotracheal intubation appears to contribute to the overall incidence of nosocomial pneumonia.
Assuntos
Infecção Hospitalar/etiologia , Intubação Intratraqueal/efeitos adversos , Pneumonia/etiologia , Idoso , Infecção Hospitalar/epidemiologia , Feminino , Humanos , Masculino , Pneumonia/epidemiologia , Estudos Prospectivos , Insuficiência Respiratória/terapia , Infecções Respiratórias/complicações , Escarro/microbiologiaRESUMO
Although hospitalization is recommended for all febrile intravenous drug abusers, this practice has not been tested and validated. To determine the distribution of disease and the predictive value of clinical information available in the emergency room for diagnosis in these patients, we prospectively evaluated the clinical and laboratory data for 87 consecutive admissions involving 75 intravenous drug abusers with temperature of 38.1 degrees C or more, emergency room physicians' diagnostic predictions, and final diagnosis. Final diagnoses were pneumonia in 38% of the patients, trivial illness (viral syndrome, pharyngitis, or pyrogen reaction) in 26%, infective endocarditis in 13%, and other conditions in 23%. Neither emergency room physicians' diagnostic predictions nor clinical data correlated with a final diagnosis of endocarditis. Although physicians' prediction of trivial illness was associated with a final diagnosis of trivial illness (p less than 0.05), 29% of these patients had a more serious final diagnosis. These data confirm the need to hospitalize all intravenous drug abusers presenting with fever at an emergency room.
Assuntos
Endocardite Bacteriana/complicações , Febre de Causa Desconhecida/etiologia , Infecções/complicações , Transtornos Relacionados ao Uso de Substâncias/complicações , Adulto , Endocardite Bacteriana/diagnóstico , Feminino , Hospitalização , Humanos , Injeções Intravenosas , Masculino , Pessoa de Meia-Idade , Pneumonia/complicações , Probabilidade , Estudos ProspectivosRESUMO
To test the hypothesis that cognitive impairment may be present early in the course of HTLV-III/LAV infection, intravenous drug abusers (IDVAs) without overt symptoms of AIDS related illness were tested with standard neuropsychological and psychosocial measures. This study is the baseline for a prospective longitudinal study of the natural history of HTLV-III/LAV infection in this high risk population. Of 211 subjects initially evaluated, 70 (33%) were HTLV-III/LAV seropositive and 141 (67%) were seronegative. At the baseline, by univariate analysis, the seropositive IVDAs were significantly (p less than .05) more impaired than seronegatives on 4 of 8 measures: Finger Tapping--dominant, hand, Digit Span Forward, Trail making A and WAIS-Similarities. However, by multivariate analysis the seropositives were significantly more impaired only on the WAIS-Similarities and Wechsler--Associative Learning tests. Multiple factors such as drug use and psychological stress may have influenced test performance. These preliminary results, however, suggest that seropositive IVDAs may show evidence of impaired neuropsychological function even in the absence of AIDS related symptoms and are consistent with the hypothesis of the early neurotropism of HTLV-III/LAV.