[Primary pulmonary botryomycosis. 1st case reported in Brazil].
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Adult↗
Biomedical subjects
J Teixeira
Publications and source records attributed to J Teixeira.
[Simplified technic of bronchography using barium].
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Barium Sulfate↗
[Joubert's syndrome: report of 12 cases].
INTRODUCTION: Joubert syndrome is a rare autosomal recessive disorder whose main clinical signs are hypotonia, ataxia, mental retardation, abnormal eye movements and a respiratory pattern of alternating tachypnea-apnea during first months of life. The most characteristic imaging features are elongation and thinning of the pontomesencephalic junction with deepening of the interpeduncular fosse, thickening of the superior cerebellar peduncles, hypoplasia of the vermis and incomplete fusion of the halves of the vermis, creating a sagittal vermic cleft. The first three findings are components of the molar tooth sign . OBJECTIVES: Our aim was to review the clinical features and the neuroradiological findings in 12 children with clinical diagnosis of Joubert syndrome, along with the attempt to correlate clinical and radiological findings. PATIENTS AND METHODS: We performed a retrospective study, and cerebral magnetic resonance imaging was achieved in all cases. RESULTS: All the children have mental retardation, hypotonia, ataxia and oculomotor abnormalities. Other clinical findings are respiratory rhythm abnormalities, abnormal retinal pigmentation, mouth-tongye-facial dyskinesias, ptosis, polydactyly, scoliosis, congenital heart defects, polycystic kidneys and seizures. All patients have agenesis of the vermis and the molar tooth sign is present in nine patients. Five children have other associated cerebral malformations. CONCLUSIONS: In the absence of a biochemical or genetic marker for the Joubert syndrome, we need to have a group of patients with homogeneous clinical and neuroradiological characteristics, in order to avoid an overlap with other syndromes. According to our experience and the review of the literature, we believe that the following should be considered as major diagnostic criteria for Joubert syndrome: hypotonia, ataxia, mental retardation, oculomotor apraxia and the molar tooth sign . Supporting clinical features are: abnormal respiratory pattern, retinal pigmentation, renal abnormalities and facial dysmorphism.
Abnormalities, Multiple↗
[Galactosemia: the genotype and phenotype of seven patients].
INTRODUCTION: Despite early dietary therapy, many patients with galactosemia show a neurodegenerative disease specially evident in speech impairment and movement disorders. Magnetic resonance imaging of the brain, show cerebral white matter changes with hypomielinization bilateral and symetrical periventricular hypersignal in T2. PATIENTS AND METHODS: We presented clinical and neuroradiological data of seven children (3 to 12 years of age) with classical galactosemia. All had a typical presentation in neonatal period. Two children had normal development (10 and 12 years-old), four presented developmental delay (10, 7, 4 and 3 years-old), and one showed a dystonic cerebral palsy (kernicterus). RESULTS: The brain MRI showed the typical involvement of white matter, in five children, and basal ganglia abnormalities in the kernicterus patient. Three patients are homozygous for Q188R mutation and two are compound heterozygous. CONCLUSION: We found a positive correlation among developmental delay, white matter involvement and Q188R mutation.
Brain↗
[Schilder's disease: two new cases and a review of the literature].
INTRODUCTION: Schilder's disease, or diffuse myelinoclastic sclerosis, is an infrequent disease that presents clinically as a pseudotumoural demyelinating lesion, which makes its diagnosis more complicated as it can be mistaken for a tumour or an abscess. CASE REPORTS: We examine the case of a male who was healthy up to the age of 8 years, when symptoms of a left hemiparesis appeared with a subacute onset and which were associated to symptoms of intracranial hypertension. A brain CAT scan showed a hypodense lesion in the right temporoparietal region, and the hypothesis of a tumoural lesion (astrocyte) was suggested. Treatment was started with dexamethasone and furosemide, and a complete regression of the symptoms and a considerable decrease in the cerebral lesion were observed. The second case is that of a female adolescent who, at the age of 11, developed a clinical picture of subacute onset of left hemiplegia. A brain CAT scan revealed hypodense lesions with ring-shaped contrast enhancement. In view of the histological diagnosis of an astrocyte, radiotherapy and corticotherapy are started. After two months' treatment, a sharp involution of the lesions was observed, which led to the acceptance of the diagnostic hypothesis of Schilder's disease. Both children presented recurrence of the lesions three years and nine months, in the first and second case respectively, after the first episode. Treatment with corticoid therapy was started and gave good clinical and radiological responses. CONCLUSIONS: In the presence of a neurological deficit with a subacute onset, associated to a brain image showing a 'tumoural' lesion containing an important amount of oedema and little mass effect, diagnoses other than that of a brain tumour must be taken into account. It thus becomes possible to avoid invasive forms of treatment, such as surgical resection, which entail a number of sequelae.
Adolescent↗
Molecular biology of MIS and its receptors.
It is important, given the potential use of MIS as an anticancer agent against tumors of Müllerian duct origin, that the search continue to identify binding isoforms of the MIS type II receptor or to identify other factors in the heteromeric complex that might be required for specific binding of this ligand to be observed. With confidence in binding one can use receptor probes to screen patients with ovarian cancer and to identify those that express receptor. This subgroup can then be examined for binding of the MIS ligand and subsequently for antiproliferative response to MIS, in order to preselect candidate patients for receptor-directed MIS treatment. Thus, a once obscure phenomenon observed in the Freemartin has led to the purification and cloning of MIS and the identification of its receptor components, as well as an understanding of their regulation and expression. Elucidation of these molecular events brings us closer to the use of molecules such as MIS in the clinical setting.
Anti-Mullerian Hormone↗