RESUMO
Evaluation of 32 individuals with achondroplasia revealed that 28% had a history of apnea and 22% had respiratory abnormalities on polysomnography. In those patients requiring posterior fossa decompressive surgery, improvement was noted in follow-up polysomnograms. Multimodality studies suggested that brainstem compression was common in achondroplasia and could account in part for the abnormal respiratory function in this disorder, including obstructive apnea, central apnea, and hypoxemia.
Assuntos
Acondroplasia/fisiopatologia , Tronco Encefálico/fisiopatologia , Insuficiência Respiratória/fisiopatologia , Adolescente , Adulto , Criança , Pré-Escolar , Potenciais Somatossensoriais Evocados , Feminino , Humanos , Lactente , Masculino , Monitorização Fisiológica , Síndromes de Compressão Nervosa/fisiopatologia , Síndromes da Apneia do Sono/fisiopatologia , Sono REM/fisiologiaRESUMO
Computerized tomographic dimensions of the foramen magnum of 63 achondroplastic individuals were compared to standards established for nonachondroplastic individuals. The size of the foramen magnum in patients with achondroplasia was small at all ages, particularly in those with serious neurologic problems. The data suggest that measurement of the foramen magnum may identify achondroplastic individuals at high risk of developing neurologic complications.
Assuntos
Acondroplasia/diagnóstico por imagem , Forame Magno/diagnóstico por imagem , Acondroplasia/complicações , Adolescente , Criança , Pré-Escolar , Humanos , Lactente , Recém-Nascido , Valores de Referência , Risco , Tomografia Computadorizada por Raios XRESUMO
Twenty-three patients with achondroplasia were evaluated using short-latency somatosensory evoked potentials (SEPs) of median and peroneal nerves. Abnormal studies were found in 61%. All patients with neurologic signs or symptoms had abnormal SEPs, with good correlation between SEP results and the level of the lesion determined clinically and radiographically. SEPs were abnormal in 44% of neurologically intact achondroplasts, several of whom had CTs confirming significant foramen magnum stenosis. SEPs are an important noninvasive means of evaluating patients with achondroplasia and are particularly valuable in children to document neurologic compromise before significant and perhaps irreversible clinical impairment develops.
Assuntos
Acondroplasia/fisiopatologia , Potenciais Somatossensoriais Evocados , Adolescente , Adulto , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
Medroxyprogesterone acetate has been used to treat metastatic renal cell carcinoma largely because of its observed inhibitory effects on the growth of estrogen-induced tumors in male Syrian golden hamsters. The absence to date of any successful, established chemotherapeutic regimen in the management of metastatic renal cell carcinoma has led to the continued application of medroxyprogesterone acetate in the majority of patients with this disease because of the occasional regression witnessed (particularly in male patients) and the absence of untoward side effects. To examine the mechanism of action of medroxyprogesterone acetate renal cell carcinoma tumor cells from a patient who had responded to medroxyprogesterone acetate therapy were established in tissue culture. Cells were cultured in control medium, and in the presence of therapeutic and pharmacologic levels of medroxyprogesterone acetate. Tumor cell growth kinetics were determined by the incorporation of 3H thymidine. There was no growth inhibition effected by medroxyprogesterone acetate at therapeutic or pharmacologic levels. Therefore, the proposed salutary effect of medroxyprogesterone acetate in regression of metastatic renal cell carcinoma results from factors other than direct inhibition of renal cell carcinoma growth.
