RESUMO

In this report, we present three cases of individuals from the same family with a diagnosis of CMT with severe tibia bone microarchitecture deterioration assessed by HR-pQCT. Charcot-Marie-Tooth disease (CMT) or hereditary neuropathy involves both motor and sensory nerves. Falls are often the first manifestation in these patients and represent an important risk factor for fracture. The reduction of mechanical input on bone inhibits bone formation by osteoblasts and accelerates bone resorption by osteoclasts, leading to disuse osteoporosis. We report three cases of individuals from the same family with a diagnosis of CMT with severe tibia bone microarchitecture deterioration assessed by high-resolution peripheral quantitative computed tomography (HR-pQCT). This affectation was exclusive to the tibia; the radius remained undamaged, showing the consequences of the lack of mobility and mechanical stimulation. Physical activity and rehabilitation, in addition to adequate calcium and vitamin D supplementation, may play an essential role in the management of this disease.

Assuntos

RESUMO

UNLABELLED: Preeclampsia (PE) is a hypertensive disorder unique to human pregnancy. Although its causes remain unclear, it is known that altered placental villous angiogenesis and a poorly developed fetoplacental vasculature can affect the transport functions of the syncytiotrophoblast (hST). We have previously observed that in preeclamptic placentas there is an increase in AQP9 protein expression, with a lack of functionality. Up to now, the mechanisms for AQP9 regulation and the role of AQP9 in the human placenta remain unknown. However, there is strong evidence that the cystic fibrosis transmembrane conductance regulator (CFTR) regulates AQP9 functionality. OBJECTIVE: Here, we studied CFTR expression and localization in hST from preeclamptic placentas in order to investigate if alterations in CFTR may be associated with the lack of activity of AQP9 observed in PE. METHODS: The expression of CFTR in normal and preeclamptic placentas was determined by Western Blot and immunohistochemistry, and CFTR-AQP9 co-localization was determined by immunoflurescence. Water uptake experiments were performed using explants from human normal term and preeclamptic placentas treated with CFTR inhibitors. RESULTS: We found that CFTR expression significantly decreased in preeclamptic placentas, and that the hST apical labeling almost disappeared, losing its co-localization with AQP9. Functional experiments demonstrated that water uptake diminished in normal term explants incubated with CFTR inhibitors. CONCLUSIONS: These results suggest that CFTR expression decreases in preeclampsia and may thus be implicated in the regulation of AQP9 activity.

Assuntos

RESUMO

The safety and immunogenicity of Haemophilus influenzae type b-tetanus toxoid conjugate vaccine (Hib-TT) were evaluated in 77 healthy infants receiving injections at 3, 5, 7, and 18 months of age. No serious local or systemic reactions were noted. After the first injection the geometric mean Hib antibody level rose to 0.55 micrograms/ml, and each subsequent injection elicited a statistically significant rise in the geometric mean. The percentage of vaccinees with Hib antibody levels greater than 0.15 micrograms/ml serum was 75.5% after the first, 97.4% after the second, and 100% after the third Hib-TT injection. This percentage fell to 90.9% at 18 months of age but rose again to 100% after the fourth injection. Control infants (n = 10) injected with diphtheria-tetanus toxoid-pertussis vaccine only had nondetectable levels after the second injection. Hib-TT elicited increases of Hib antibody in all isotypes: IgG greater than IgM greater than IgA. Among IgG subclasses the highest increases were of IgG1. All vaccinated subjects had greater than 0.01 U/ml of TT antibody (estimated protective level) throughout the study. We conclude that Hib-TT, injected at 3, 5, 7, and 18 months, is safe and induces protective levels of antibodies during the age of highest incidence of meningitis caused by Hib.

Assuntos

RESUMO

A doença neurológica ocorre com freqüência em pacientes infectados pelo Virus de Imunodeficiência Humana (HIV). Neste trabalho, os autores analisam, retrospectivamente, 55 casos de um total de 91 pacientes com síndrome da Imunodeficiência Adquirida (SIDA) que desenvolveram patologia do sistema nervoso no período de maio de 1985 a abril de 1988. Foram levantados dados epidemiológicos como idade, sexo e grupo de risco mais prevalentes, assim como as patologias neurológicas de maior incidência e suas respectivas características clínicas. Os dados foram tratados estatisticamente e comparados a literatura. A incidência de doenca neurológica foi de 60,4% neste estudo. Houve predomínio do sexo masculino (92,8%. A maioria dos casos encontrava-se na faixa etária entre 20 e 39 anos (83,6%). O grupo de risco com maior incidência foi o de homossexuais (58,2%). Entre os pacientes com desordens neurológicas, 16,4% apresentaram-na como manifestaçäo inicial da SIDA. A patologia com maior número de casos foi a demência progressiva ("AIDS-Dementia Complex") (27,3%), seguida pela toxoplasmose cerebral (21,9%) e pela meningite criptocóccica (14,5%)

Assuntos

RESUMO

Alteraçöes neurológicas säo freqüentes causa de morbidade e mortalidade na Síndrome da Imunodeficiência Adquirida (SIDA). Na maioria dos casos em adultos, doença neurológica aparece quando já há manifestaciones sistêmicas. Contudo, estas podem ser a apresentaçäo inicial ou o único iondicativo da presença da SIDA. Doenças neurológicas causadas diretamente pelo vírus da imunodeficiência humana (HIV) no sistema nervoso central (SNC) säo a meningite asséptica, a demência relacionada a SIDA e, possivelmente, uma mielopatia vacuolar que ocorre em aproximadamente 30% dos pacientes. Os autores apresentam um caso de mielopatia em um paciente sem sintomas sistêmicos e com infecçäo comprovada pelo HIV

Assuntos

Assuntos

Assuntos