Biomedical subjects
S M de Souza
Publications and source records attributed to S M de Souza.
Prevalence of deltaF508, G551D, G542X, and R553X mutations among cystic fibrosis patients in the North of Brazil.
Cystic fibrosis (CF) is the most common genetic disease among Caucasians and is rare among sub-Saharan Africans. The Brazilian population is not ethnically homogeneous but it is the result of three-way ethnic admixture of Europeans, Africans and Amerindians in varying proportions, depending on the region. In the present study, we investigated 33 patients who had been diagnosed and are currently under treatment for CF at the University Hospital João de Barros Barreto, Belém, Pará State. The molecular analysis for G542X, G551D and R553X mutations was performed by PCR followed by RFLP using BstNI, HincII and MboI, respectively, in polyacrylamide gel eletrophoresis and stained with AgNO3. ThedeltaF508 mutation (a deletion of 3 bp) was only analyzed by polyacrylamide gel electrophoresis and stained with AgNO3. Each sample was analyzed for regions of interest in the CFTR gene using amplified by PCR and specific primers. The deltaF508 and G551D mutations presented frequencies of 22.7 and 3%, respectively. In 74.3% of the remaining patients, none of the mutations investigated was found. The present study characterized in a sample of patients with an established clinical diagnosis of CF (asthma, repeated bronchopneumonia, disorders of nutritional status, etc.) the most frequent mutation (deltaF508) in the North region of Brazil and is also the first report of the G551D mutation. In spite of the wide spectrum of CF mutations and the heterogeneous ethnic origin of the Amazon population, the molecular diagnosis is a helpful additional tool for the diagnosis and treatment of CF patients.
[Type I Chiari malformation: report of 2 cases with unusual clinical presentation].
We describe two patients with Chiari type I malformation with unusual clinical presentation. The first one with clinical picture of acute respiratory insufficiency and the second one with vestibular and mild cerebellar syndrome and headache. In both cases the neurological examination demonstrated the presence of "down-beating nystagmus". We emphasize the value of neurological semiology, determining a correct complementary evaluation and effective treatment.
[Spinal cord infarction: clinical, electrophysiologic and laboratory diagnosis].
In the international, but more so in the latin-american, medical literature infarction of the spinal cord has been rarely described except in relationship with surgery of the abdominal aorta. The objective of this report is to describe the diagnostic approach including clinical, electrophysiological, imaging and cerebrospinal fluid criteria. With these methods 17 cases were diagnosed between 1982 and 1989, one related to surgery of the abdominal aorta. This series suggests that infarction of the spinal cord is a more common clinical entity than presently considered. Its rarity may be due to a high diagnostic threshold related to the perception that there is no specific therapy.
[Use of contrast sodium 3,5-diacetamido-2,4,6-triiodobenzoate as auxiliary medium in dental radiology].
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