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Milberto Scaff

Publications and source records attributed to Milberto Scaff.

At least 37 records · Page 2Linked to original sources
PubMed2004

Detection of somatic TP53 splice site mutations in diffuse astrocytomas.

Alteration in TP53 is the most common genetic event reported for many tumors, including astrocytomas. The majority of studies, on analyzing TP53 mutations, have not included all splice junctions. Consequently, splice site mutations are thought to be relatively infrequent. TP53 were examined for mutations by polymerase chain reaction, single strand conformation polymorphism and direct sequencing in cases of diffuse astrocytomas. We found TP53 mutations in 17.8% (8 out of 45) of the tumors tested: 3 splicing, 3 missense and 2 silent mutations. We have shown that splice site mutations of TP53 are more frequent than previously reported. These findings emphasize the importance of thorough screening of TP53 mutations in gliomas.

Astrocytoma↗
PubMed2004

Progressive cervicocranial arteriopathy with dilatations and stenoses: case report.

We report the case of a 36 year-old woman who presented occlusion of a basilar artery fusiform aneurysm (FA) associated with pontine infarction, and two episodes of subarachnoid hemorrhage possibly due to arterial dissection. She also had asymptomatic FAs in the right middle cerebral and left internal carotid arteries. Over 5 years, lesions suggestive of fibromuscular dysplasia in the right vertebral artery and occlusion of the left vertebral artery were observed. This combination of lesions emphasizes the possibility of a common pathogenetic mechanism causing different degrees of media disruption in cervicocranial arteries.

Adult↗
PubMed2004

[Phobic postural vertigo: clinical aspects and course of illness].

Phobic postural vertigo (PPV) is the second most common diagnosis on a dizziness unit. It is a somatoform syndrome characterized as a chronic and incapacitating condition with subjective imbalance and short attacks of dizziness. During a period of 18 months, PPV was observed in 41 patients among 251 of a dizziness unit. Twenty-six had primary PPV, among whom 65% had depressive or anxiety disorders, and 15 patients were diagnosed at secondary PPV. Normal neurological examination and diagnostic tests were observed in most cases. A favorable response to treatment (antidepressants, benzodiazepines, psychotherapy and/or orientation) was observed in 62% of all patients, without difference between both groups -- primary and secondary PPV. Despite the high prevalence, PPV is misdiagnosed. Therefore one must attempt to recognize it, since its appropriate treatment prevents recurrence and incapacitation.

Adult↗
PubMed2004

[Spontaneous cervical carotid and vertebral arteries dissection: study of 48 patients].

OBJECTIVE: To report a Brazilian series of spontaneous cervical arterial dissections, risk factors, warning symptoms, clinical manifestations, diagnostic tests, treatment and prognosis. METHOD: We performed the retrospective analysis of clinical and neuroradiological records (MRI, A-MRI and Angiography) of patients with this diagnosis who were evaluated in a tertiary hospital for the period of 1997-2003. RESULTS: 48 patients (24 men) with median age 37.9 years: 26 patients with unilateral internal carotid dissection (ICAD), 15 with unilateral vertebral artery dissection (VAD) and 7 with multivessel dissections. All patients presented neurological deficits. Hypertension, smoking and dyslipidemia were the main risk factors. More than 80% of patients presented at least one initial symptom, most of them temporoparietal headache. 44% of patients with VAD and only 3.4% of patients with ICAD had neck pain. The median interval between the onset of symptom and the appearance of neurological deficit was 5.4 days for ICAD and 13.5 days for VAD. Five patients with ICAD presented preceding TIA. Angiography was performed in 93% of patients. In 42% of these patients, MRI and A-MRI were associated. In three patients the diagnosis was made just through cervical MRI. 75% of patients received anticoagulation. Two patients received intravenous thrombolytic therapy with no complications. Prognosis was good for all patients but two patients with bilateral ICAD died. CONCLUSION: Our results are similar to the literature, except for the low frequency of neck pain in ICAD patients and predominance of temporoparietal headache in cervical artery dissection patients. Vascular risk factors were commonly found.

Adolescent↗
PubMed2004

Contribution to the evaluation of language disturbances in subcortical lesions: a pilot study.

Subcortical structures are in a strategic functional position within the cognitive networks and their lesion can interfere with a great number of functions. In this study, we describe fourteen subjects with exclusively subcortical vascular lesions (eight in the basal ganglia and six in the thalamus) and the interrelation between their language alterations and other cognitive abilities, as attention, memory and frontal executive functions. All patients were evaluated through the following batteries: Boston Diagnostic Aphasia Examination, Boston Naming Test, Token Test, Benton Visual Retention Test, Trail Making, Wisconsin Card Sorting Test and a frontal scripts task. All patients underwent MRI and twelve underwent SPECT. Results show that these patients present impairment in several cognitive domains, especially attention and executive functions. These alterations affect language abilities, and this fact must be considered in the rehabilitation efforts.

Adult↗
PubMed2003

Isolated oculomotor nerve palsy in spontaneous internal carotid artery dissection: case report.

UNLABELLED: Partial oculosympathetic palsy followed by ischemic manifestations in brain or retina are the main symptoms of extracranial internal carotid artery (ICA) dissection. Unusually, cranial nerves may be affected. Isolated oculomotor nerve palsy is found only rarely. CASE: We present a 50-year-old nondiabetic man who experienced acute onset of right occipital headache which spread to the right retro-orbital region. Five days later he noticed diplopia and right blurred vision sensation. Neurologic examination disclosed only impaired adduction and upward gaze of right eye, slight ipsilateral pupillary dilatation, without ptosis. Brain MRI was normal. Angiography showed right internal carotid artery dissection with forward occlusion to the base of the skull. Intravenous heparin followed by warfarin was prescribed. The headache and the oculomotor nerve deficit gradually resolved in the next three weeks. DISCUSSION: Isolated oculomotor nerve palsy is underrecognized as a clinical presentation of extracranial ICA dissection. If the angiographic evaluation is incomplete without careful study of extracranial arteries, misdiagnosis may lead to failure to initiate early treatment to prevent thromboembolic complications. For this reason we draw attention to the need for careful evaluation of cervical arteries in patients with oculomotor nerve palsy. Mechanical compression or stretching of the third nerve are possible mechanisms, but the direct impairment of the blood supply to the third nerve seems to be the most plausible explanation.

Carotid Artery, Internal, Dissection↗
PubMed2003

Thalamus and language: interface with attention, memory and executive functions.

Subcortical structures are in a strategic functional position within the cognitive networks. Their lesion can interfere with a great number of functions. We studied six patients with thalamic vascular lesions (three left sided, two right sided and one bilateral), to characterize their repercussion in the communicative abilities and the interface between language alterations and other cognitive abilities, as attention, memory and frontal executive. All patients were evaluated through a functional interview (discourse analysis), and the following batteries: Boston Diagnostic Aphasia Examination, Boston Naming Test, Token Test, Benton Visual Retention Test, Trail Making, Wisconsin Card Sorting and frontal scripts. All patients performed MRI and five underwent SPECT. Results show that these patients present impairment in several cognitive domains, especially attention and executive functions (working memory, planning and self-monitoring); those with right lesions have an additional visuospatial impairment. Such alterations interfere with language abilities, and this fact must be considered in the rehabilitation efforts.

Adult↗
PubMed2003

Treatment of subclavian steal syndrome with percutaneous transluminal angioplasty and stenting: case report.

Subclavian steal syndrome refers to the association of neurological symptoms related to vertebrobasilar insufficiency and the phenomenon of subclavian steal. We report the case of a 63 year-old male patient that presented subclavian steal syndrome and severe proximal (80%) stenosis of the left subclavian artery. The patient was submitted to percutaneous transluminal angioplasty and stenting on the left SA. The procedure was well tolerated and immediately afterwards, there was complete remission of the symptoms and of the phenomenon of subclavian steal evaluated by angiography and transcranial doppler. We propose that percutaneous transluminal angioplasty with stenting placement is a good therapeutic option for subclavian steal syndrome.

Angioplasty, Balloon↗
PubMed2003

[Transcranial magnetic stimulation].

Transcranial magnetic stimulation (TMS) allows non-invasive study and modulation of cortical excitability in humans. Changes in cortical excitability in physiological and pathological conditions can be tracked by measurements such as motor threshold, motor evoked potentials, recruitment curves, intracortical facilitation and inhibition. The central motor conduction time can estimate neural transmission in central motor pathways. Changes in areas of representation in sensorimotor cortex can be studied with cortical mapping. Modulation of cortical processing can be used to evaluate different brain functions. Therapeutic use in depression, Parkinson's disease and epilepsy has raised great interest over the past decade. Non-invasive cortical mapping may be achieved by combining TMS to other neurophysiological/ neuroimaging techniques. TMS has great potential both as an investigational and as a therapeutical tool in Neurology and Psychiatry.

Brain Diseases↗
PubMed2003

Descriptive study of 192 adults with speech and language disturbances.

CONTEXT: Aphasia is a very disabling condition caused by neurological diseases. In Brazil, we have little data on the profile of aphasics treated in rehabilitation centers. OBJECTIVE: To present a descriptive study of 192 patients, providing a reference sample of speech and language disturbances among Brazilians. DESIGN: Retrospective study. SETTING: Speech Pathology Unit linked to the Neurology Division of the Hospital das Clínicas of the Faculdade de Medicina da Universidade de São Paulo. SAMPLE: All patients (192) referred to our Speech Pathology service from 1995 to 2000. PROCEDURES: We collected data relating to demographic variables, etiology, language evaluation (functional evaluation, Boston Diagnostic Aphasia Examination, Boston Naming and Token Test), and neuroimaging studies. MAIN MEASUREMENTS: The results obtained in language tests and the clinical and neuroimaging data were organized and classified. Seventy aphasics were chosen for constructing a profile. Fourteen subjects with left single-lobe dysfunction were analyzed in detail. Seventeen aphasics were compared with 17 normal subjects, all performing the Token Test. RESULTS: One hundred subjects (52%) were men and 92 (48%) women. Their education varied from 0 to 16 years (average: 6.5; standard deviation: 4.53). We identified the lesion sites in 104 patients: 89% in the left hemisphere and 58% due to stroke. The incidence of aphasia was 70%; dysarthria and apraxia, 6%; functional alterations in communication, 17%; and 7% were normal. Statistically significant differences appeared when comparing the subgroup to controls in the Token Test. CONCLUSIONS: We believe that this sample contributes to a better understanding of neurological patients with speech and language disturbances and may be useful as a reference for health professionals involved in the rehabilitation of such disorders.

Adolescent↗
PubMed2003

Speech and language disturbances due to subcortical lesions.

Over the last few decades, the number of studies concerning the role of subcortical structures in cognition has increased due to advances in neuroimaging. We describe the language and speech disturbances found in 16 patients with subcortical lesions (9 in basal ganglia and 7 in thalamus), evaluated by CT scan, MRI, and SPECT. Language assessment included the Boston Diagnostic Aphasia Examination, Boston Naming Test, and Token Test. Motor-articulatory alterations predominated in the non-thalamic group; in the thalamic group, there was a higher frequency of language alterations, especially in naming and auditory comprehension; verbal memory and attentional impairments may have contributed to this. We also found hypoperfusion in cortical language areas, and therefore participation of cortical dysfunction cannot be ruled out.

Adult↗
PubMed2002

Clinical discriminators between acute brain hemorrhage and infarction: a practical score for early patient identification.

New treatments for acute stroke require a rapid triage system, which minimizes treatment delays and maximizes selection of eligible patients. Our aim was to create a score for assessing the probability of brain hemorrhage among patients with acute stroke based upon clinical information. Of 1805 patients in the Stroke Data Bank, 1273 had infarction (INF) and 237 had parenchymatous hemorrhage (HEM) verified by CT. INF and HEM discriminators were determined by logistic regression and used to create a score. ROC curve was used to choose the cut-point for predicting HEM (score </= 2), with sensitivity of 76% and specificity of 83%. External validation was done using the NOMASS cohort. Although the use of a practical score by emergency personnel cannot replace the gold-standard brain image differentiation of HEM from INF for thrombolytic therapy, this score can help to select patients for stroke trials and pre-hospital treatments, alert CT scan technicians, and warn stroke teams of incoming patients to reduce treatment delays.

Acute Disease↗
PubMed2002

King-Denborough Syndrome: report of two Brazilian cases.

We report on two boys aged 2 and 6 years-old respectively with dysmorphic face, ptosis, down-slanting palpebral fissures, hypertelorism, epicanthic folds, low-set ears, malar hypoplasia, micrognathia, high-arched palate, clinodactyly, palmar simian line, pectus excavatum, winging of the scapulae, lumbar lordosis and mild thoracic scoliosis who present congenital hypotonia, slightly delayed motor development, diffuse joint hyperextensibility and mild proximal weakness. The muscle biopsy revealed minimal but identifiable changes represented by size fiber variability, type I fiber predominance and atrophy, perimysial fibrous infiltration and some disarray of the intermyofibrillary network. These cases correspond to the first Brazilian reports of the King-Denborough syndrome and our objective is increasing the awareness of this disorder as these patients are predisposed to developing malignant hyperthermia.

Abnormalities, Multiple↗
PubMed2002

[Diagnosis of schistosomiasis of the spinal cord: contribution of magnetic resonance imaging and electroneuromyography].

OBJECTIVE: To analyze the usefulness of magnetic resonance imaging MRI and electroneuromyography (ENMG) in the diagnosis of schistosomiasis of the spinal cord (SSC). METHOD: 18 MRI of the thoracolumbar spine and 24 ENMG of the upper and lower limbs were carried out on patients with a definite diagnosis of SSC in the clinical forms of myeloradiculitis or thoracic transverse myelitis. RESULTS: Of the 18 MRI carried out, 16 (88.8%) showed abnormalities on T1 and T2 weighted images and heterogenous pattern of enhancement with contrast material injection. Of the 24 ENMG, 23 (95.8%) showed a feature of bilateral multiradiculopathy of roots L2, L3, L4, L5, S1, S2, asymmetric in 10 cases (41.6%), characterized by signs of denervation in the lumbar paraspinal musculature and long duration polyphasic potentials in increased proportion, as well decrease of the recruitment of motor units. CONCLUSION: In spite of the non-specificity of both exams, the MRI and the ENMG showed to be useful for the diagnosis of SSC, by revealing abnormalities that repeated in 88.8% and 95.8% of the cases, respectively.

Adolescent↗
PubMed2002

[Schistosomiasis of the spinal cord: analysis of 80 cases].

To outline through clinical-laboratorial analysis a profile of schistosomiasis of the spinal cord (SSC) that contributes to the diagnosis and treatment of this disease. 80 patients were studied (59 prospectively), and epidemiological, clinical,laboratorial, treatment and outcome data extracted. In 79 patients the diagnosis was presumptive and obeyed rigorous criteria. There was a predominance of male sex (68.7%), age group from 21 to 40 years (63.7%), Northeasterners (85%), building construction workers (31.2%), previous abdominal effort (57.5%), subacute beginning (61.2%), myeloradiculitis form and lesion in conus and cauda equina (72.5%). Cerebral spinal fluid showed lymphomononuclear pleocytosis and protein increase in 100% of the cases as well as gamma globulin in 76.5%, positiveness of immunofluorescence reaction and/or ELISA for schistosomiasis in 100% of the cases with average titles of 1/16 and 61 u/dl, respectively. Corticosteroids and antischistosomal drugs were given to all patients with a satisfactory outcome in 80% of the cases. We emphasize the importance of a precocious treatment to avoid irreversible deficits such as paraplegia or sexual impotence.

Adolescent↗