Marcos Christiano Lange

Bone marrow transplantation in patients with storage diseases: a developing country experience

Bone marrow transplantation (BMT) is a therapeutic option for patients with genetic storage diseases. Between 1979 and 2002, eight patients, four females and four males (1 to 13 years old) were submitted to this procedure in our center. Six patients had mucopolysaccharidosis (MPS I in 3; MPS III in one and MPS VI in 2), one had adrenoleukodystrophy (ALD) and one had Gaucher disease. Five patients had related and three unrelated BMT donor. Three patients developed graft versus host disease (two MPS I and one MPS VI) and died between 37 and 151 days after transplantation. Five patients survived 4 to 16 years after transplantation. Three patients improved (one MPS I; one MPS VI and the Gaucher disease patient), one patient had no disease progression (ALD) and in one patient this procedure did not change the natural course of the disease (MPS III).

Transcranial Doppler for patent foramen ovale screening: is there a good correlation with transesophageal echocardiography?

UNLABELLED Right-to-left shunt (RLS) can be identified by contrast-enhanced transcranial Doppler (cTCD) in patent foramen ovale (PFO) patients. AIM To evaluate cTCD for PFO screening comparing it to cTEE. METHOD 45 previous cTCD performed for PFO diagnosis and correlated its findings with cTEE. Patients were submitted to a cTCD standardized technique and were divided in two groups according to RLS: Group 1, patients with a positive RLS and Group 2 when RLS was negative. RESULTS 29 (65%) patients were included in group 1 and 16 (35%) in group 2. PFO confirmation by cTEE was performed in 28 (62%) patients. cTCD had a 92.85% sensitivity, 82.35% specificity, 89.65% positive predictive value and 87.5% negative predictive value when compared to cTEE for PFO diagnosis. CONCLUSION Standardized technique cTCD allows for RLS visualization in PFO patients with a good correlation with cTEE and can be used as a screening test before cTEE.

Brazilian Guidelines for transcranial doppler in children and adolescents with sickle cell disease

Background Sickle cell disease is the most common monogenic hereditary disease in Brazil. Although strokes are one of the main causes of morbidity and mortality in these patients, the use of transcranial Doppler to identify children at risk is not universally used. Objective To develop Brazilian guidelines for the use of transcranial Doppler in sickle cell disease children and adolescents, so that related health policies can be expanded, and thus contribute to reduce morbidity and mortality. Methods The guidelines were formulated in a consensus meeting of experts in transcranial Doppler and sickle cell disease. The issues discussed were previously formulated and scientific articles in databases (MEDLINE, SciELO and Cochrane) were carefully analyzed. The consensus for each question was obtained by a vote of experts on the specific theme. Results Recommendations were made, including indications for the use of transcranial Doppler according to the sickle cell disease genotype and patients age; the necessary conditions to perform the exam and its periodicity depending on exam results; the criteria for the indication of blood transfusions and iron chelation therapy; the indication of hydroxyurea; and the therapeutic approach in cases of conditional transcranial Doppler. Conclusion The Brazilian guidelines on the use of transcranial doppler in sickle cell disease patients may reduce the risk of strokes, and thus reduce the morbidity and mortality and improve the quality of life of sickle cell disease patients.

Nevralgia do occipital maior associada a lesão osteolítica occipital: relato de caso

The anatomic distribution of the greater occipital nerve during its path permits a close relationship with muscular structures, tendons, vessels and bones. The rupture of this relationship can origin its irritation and headache. We describe an uncommon association between an osteolytic lesion on occipital bone and greater occipital nerve. The patient, female 50, has been presenting headache for two years on the right occipital region spreading to the hemicranic and ipsilateral supraorbital region. The symptoms started spontaneously or by pressure on the trapezius tendon. The pain lasted about 30 minutes, compressive, mild intensity, with no autonomic symptoms and no improvement after the infiltration in the greater occipital nerve. The total improvement of the symptoms after releasing the nerve has allowed us to associate this lesion to the presence of algic symptoms.

Clinical, neurovascular and neuropathological features in sneddon's syndrome

Sneddons syndrome (SS) is characterized by ischemic cerebrovascular episodes and livedo reticularis. It is more common in young women and can also be associated with valvulopathy, a history of spontaneous abortion, renal involvement and vascular dementia. We describe three cases of young women with this disease. The patients had repeated ischemic cerebral episodes, livedo reticularis and thrombocytopenia. CT and MRI showed strokes and cerebral atrophy. Autopsy in one of the patients revealed cerebral infarctions. Anticardiolipin antibodies were detected in two patients. Antiphospholipid antibodies may be found in some patients with ischemic cerebrovascular events and livedo reticularis. SS may thus be associated with antiphospholipid syndrome. We described three new cases of SS and discuss the pathophysiology of this disease.

DOPPLER TRANSCRANIANO NA PRÁTICA NEUROLÓGICA

Transcranial Doppler (TCD) was described in 1982 by Rune Aaslid and introduced in Brazil in 1992 by Roberto Hirsh in the University of São Paulo. Since the acquisition of TCD by Neurology Division of Hospital de Clínicas of Universidade Federal do Paraná (HC-UFPR) in 2001, the knowledge about TCD clinical utility has been increasing for diagnosis, follow-up and management of patients with cerebrovascular diseases. The objective of this study is to describe the current TCD indications and medical specialties indicators in our hospital. Although guidelines as published by the American Academy of Neurology establish values for TCD study with methods specificity and sensibility, we realize that the utility in our center depends on our efforts to show methods beneficial in various clinical settings.

Saline versus Saline with Blood as a Contrast Agent for Right-to-left Shunt Diagnosis by Transcranial Doppler: Is There a Significant Difference?

Agitated saline solution (AS) is the contrast agent (CA) of choice for the diagnosis of right‐to‐left shunt (RLS). The aim of this study was to compare AS to AS with blood (ASb) in the diagnosis and quantification of RLS by contrast‐enhanced transcranial Doppler (cTCD).

Curitiba acute ischemic stroke protocol: a university hospital and EMS initiative in a large Brazilian city

UNLABELLED Few healthcare centers in Brazil perform thrombolytic therapy for acute ischemic stroke (AIS) patients. OBJECTIVE The aim of this study was to describe an interinstitutional protocol for the rapid identification and thrombolytic treatment of AIS patients at a public health hospital in a large Brazilian city. METHOD Emergency medical services (EMS) personnel evaluated 433 patients with possible stroke during a six-month period. After a standard checklist, patients with suspected AIS and symptoms onset of less than two hours were evaluated at our University Hospital (UH). RESULTS Sixty-five (15%) patients met the checklist criteria and had a symptom onset of less than two hours, but only 50 (11%) patients were evaluated at the UH. Among them, 35 (70%) patients had ischemic stroke, 10 (20%) had hemorrhagic stroke, and 5 (10%) had other diagnoses. Of the 35 ischemic stroke patients, 15 (43%) underwent IV thrombolysis. CONCLUSION The present study demonstrated that trained EMS workers could help to improve the rate of thrombolytic treatment in large Brazilian cities. Permanent training programs for EMS and hospital staff, with quality control and correct identification of AIS patients, should be implemented to increase appropriate thrombolytic therapy rates in Brazil.

Incidence and mortality of ischemic stroke subtypes in Joinville, Brazil: a population-based study

AIMS To measure the incidence and mortality rates of ischemic stroke (IS) subtypes in Joinville, Brazil. METHODS All first-ever IS patients that occurred in Joinville from January 2005 to December 2006 were identified. The IS subtypes were classified by the TOAST criteria, and the patients were followed-up for one year after IS onset. RESULTS The age-adjusted incidence per 100,000 inhabitants was 26 (17-39) for large-artery atherosclerosis (LAA), 17 (11-27) for cardioembolic (CE), 29 (20-41) for small vessel occlusion (SVO), 2 (0.6-7) for stroke of other determined etiology (OTH) and 30 (20-43) for stroke of undetermined etiology (UND). The 1-year mortality rate per 100,000 inhabitants was 5 (2-11) for LAA, 6 (3-13) for CE, 1 (0.1-6) for SVO, 0.2 (0-0.9) for OTH and 9 (4-17) for UND. CONCLUSION In the population of Joinville, the incidences of IS subtypes were similar to those found in other populations. These findings highlight the importance of better detection and control of atherosclerotic risk factors.

Correlation between brain injury and dysphagia in adult patients with stroke

Summary Introduction: In the literature, the incidence of oropharyngeal dysphagia in patients with cerebrovascular accident (AVE) ranges 20–90%. Some studies correlate the location of a stroke with dysphagia, while others do not. Objective: To correlate brain injury with dysphagia in patients with stroke in relation to the type and location of stroke. Method: A prospective study conducted at the Hospital de Clinicas with 30 stroke patients: 18 women and 12 men. All patients underwent clinical evaluation and swallowing nasolaryngofibroscopy (FEES®), and were divided based on the location of the injury: cerebral cortex, cerebellar cortex, subcortical areas, and type: hemorrhagic or transient ischemic. Results: Of the 30 patients, 18 had ischemic stroke, 10 had hemorrhagic stroke, and 2 had transient stroke. Regarding the location, 10 lesions were in the cerebral cortex, 3 were in the cerebral and cerebellar cortices, 3 were in the cerebral cortex and subcortical areas, and 3 were in the cerebral and cerebellar cortices and subcortical areas. Cerebral cortex and subcortical area ischemic strokes predominated in the clinical evaluation of dysphagia. In FEES®, decreased laryngeal sensitivity persisted following cerebral cortex and ischemic strokes. Waste in the pharyngeal recesses associated with epiglottic valleculae predominated in the piriform cortex in all lesion areas and in ischemic stroke. A patient with damage to the cerebral and cerebellar cortices from an ischemic stroke exhibited laryngeal penetration and tracheal aspiration of liquid and honey. Conclusion: Dysphagia was prevalent when a lesion was located in the cerebral cortex and was of the ischemic type.