Biomedical subjects

Lineu César Werneck

Publications and source records attributed to Lineu César Werneck.

At least 19 recordsLinked to original sources

PubMed2006

[Emery-Dreifuss muscular dystrophy: case report].

The Emery-Dreifuss muscular dystrophy is a form of muscular dystrophy that frequently presents early contractures and cardiac conduction defects, caused by emerin deficiency in the inner nuclear membrane of the muscular fibers. A 19-years-old man it presented muscle weakness and hypotrophy in the proximal upper and lower limbs, dysphagia and early contractures in elbows and ankles, with familiar history compatible with X-linked inheritance form. The investigation showed increased serum creatinekinase levels electrocardiogram had a first degree atrioventricular block and right bundle branch block normal electromyography and nerve conduction study muscle biopsy disclosed myopathic characteristics and nuclear protein immunohystochemical analysis showed deficiency of emerin. The clinical and genetics manifestations, laboratorial and electromyography changes, as well as, the study of the pattern of inheritance for genetic counseling are discussed.

Adult↗

PubMed2006

[Neurophysiological study in slow-channel congenital myasthenic syndrome: case report].

The slow-channel syndrome is one of the congenital myasthenic syndromes attributed to inherited kinetic disorders of the ion channel of the acetylcholine receptor of the neuromuscular junction. This is a case report of 25-years-old man with progressive ptosis and limitation of ocular movements since infancy, presented a 6-years history of worse of the external ophthalmoparesis and muscular weakness in the shoulders and hands. The motor nerve conduction studies after a supramaximal single stimulus disclosed a double compound muscle action potential (CMAP) that disappeared after a voluntary contraction of 30 seconds. Repetitive stimulation of facial and spinal accessory nerves showed a CMAP decrement greater than 10% with disappeared of the second potential. The patient received fluoxetine with mild improvement of muscular weakness, but persisted with: ptosis, limitation of ocular movements and repetitive CMAP in the motor nerve conduction study. The characteristic of disease are discussed.

Action Potentials↗

PubMed2006

Evaluation of AIDS-related disability in a general hospital in southern, Brazil.

The increase in survival rates of patients affected by AIDS is associated with physical disabilities that can compromise their functional independence. We examined the degree and types of disabilities in hospitalized AIDS patients , as well the clinical and immunological parameters associated with disability. The lowered functional status was associated with increased time since AIDS had been diagnosed, with complaints of weakness, and with the involvement of more than one set of systems in the definition of AIDS. The inability to perform daily living activities was associated with higher viral loads (log) c/mL, lower CD4+/mL and CD4+/CD8+ ratios, and with involvement of the central nervous system, in the cause of hospitalization. Both the inability to perform daily living activities and low functional status were associated with muscle strength alteration and with being unemployed.

Acquired Immunodeficiency Syndrome↗

PubMed2006

The Brazilian contribution to the study of neurocysticercosis: Moses and Lange's role in cerebrospinal fluid diagnosis.

We report the seminal contributions of both Dr. Arthur Moses (Instituto Oswaldo Cruz, Rio de Janeiro), in 1911, and Dr. Oswaldo Lange (Faculdade de Medicina da USP, São Paulo), in 1940, to the diagnosis of neurocysticercosis (NC). Moses was the first person to report an immunologically based method for the diagnosis of NC, whereas Lange reported the cerebrospinal features of NC.

Animals↗

PubMed2006

The role of the irritative zone and of the number and distribution of calcifications in the severity of epilepsy associated with intracranial calcifications.

OBJECTIVE: To determine the influence of the location of the irritative zone, and the number and the distribution of the intracranial calcifications in the severity of epilepsy associated with intracranial calcifications. METHOD: We studied 47 patients with epilepsy and intracranial calcifications, 24 with normal (Group A) and 23 with abnormal interictal EEGs (Group B), a control group (n=21) with abnormal interictal EEGs and normal CT-scans (Group C). Clinical, electroencephalographic and neuroradiological features were compared among groups. RESULTS: Temporal lobe interictal EEG abnormalities were found in 23/24 Group B patients, and in all Group C patients. Most Group B and Group C patients presented temporal lobe seizure symptomatology, whereas in most Group A patients symptomatology was rolandic (p=0.0001). Epilepsy was more severe in Group B and Group C patients than in Group A patients (p=0.0001 and p=0.0054). No relationship was found between the number of calcifications and epilepsy severity. CONCLUSION: An irritative zone at the temporal lobe is more relevant in determining the severity, symptomatology and frequency of seizures than the number and location of calcifications.

Adolescent↗

PubMed2006

Fatal intracerebral hemorrhage secondary to Lonomia obliqua caterpillar envenoming: case report.

The case of a 70 year-old, previously healthy woman who developed a severe bleeding diathesis shortly after touching a Lonomia obliqua caterpillar and finally died from multiple intracerebral hemorrhages is described. Brain hemorrhages are the leading cause of death in patients envenomed by the Lonomia species. The pertinent literature is reviewed and the most relevant clinical features highlighted, with emphasis on diagnosis. The use of new therapeutic options such as anti-Lonomia serum is discussed.

Aged↗

PubMed2005

[Motor nerve conduction study in McArdle disease: case report].

McArdle disease (glycogenosis type V) is a metabolic myopathy with symptoms of exercise intolerance caused by deficiency of the enzyme myophosphorylase. In these patients, the motor nerve conduction studies after a short period of maximal voluntary muscle contraction or repetitive stimulation reveals characteristic findings of the disease. A 37-year-old man presented symptoms of exercise intolerance, muscular fatigue and cramps in the beginning of the physical activity with "second wind" phenomenon. The motor nerve conduction studies after a voluntary contraction of 30 and 90 seconds presented decrease in the amplitude of the compound muscle action potential in median, ulnar and deep peroneal nerves; and decrement after 200 stimulation at the 40 Hz in deep peroneal nerve. The electromyography presented myopathic pattern and during the ischemic exercise electric silence was not proven. The characteristic of electrophysiological studies are discussed with emphasis at the importance of the motor nerve conduction studies in the patients with suspicion of metabolic myopathy.

Action Potentials↗

PubMed2005

[Fibrolipomatous hamartoma of the median nerve: case report].

Fibrolipomatous hamartoma is a rare benign neoplasm that in some cases is associated with macrodactylia. We describe a 31-year-old man who had a tissue enlargement in the wrist, second and third fingers of the left hand since infancy. At 23-years-old he began with continuous, progressive and high intensity pain that occurred more frequently at night, localized in the left hand. It was associated with paraesthesias and hypostesias predominantly at the fingers described above. Investigation with X-ray, ultrasonography, electrodiagnosis, magnetic resonance image of the left wrist and hand showed carpal tunnel syndrome with macrodactylia by fibrolipomatous hamartoma of the median nerve. The patient did not a have good response to clinical therapy, so he was submitted to a surgical decompression of the left carpal tunnel, and after three months of follow up is asymptomatic.

Adult↗

PubMed2005

Movement disorders secondary to long-term treatment with cyclosporine A.

OBJECTIVE: To analyze the prevalence, severity and functional interference of movement disorders (MD) secondary to chronic use of cyclosporine A (CsA). METHOD: We conducted a cross-sectional study of 60 patients (58.3% male) with mean age 23.1 (3-75) years, followed at the Bone Marrow Transplantation Service of the Hospital de Clínicas of the Federal University of Paraná, Brazil, taking CsA for at least six months. Our protocol included clinical data, assessment of functional interference of symptoms and neurological examination including observation and grading of MD. RESULTS: Eight (13.3%) subjects reported the presence of tremor at the moment of interview and 29 (48.3%) recalled this symptom at some point during treatment. Neurological examination identified 14 (23.3%) subjects with MD: upper limb symmetric action tremor in 13 (21.6%) and parkinsonism (rigidity and bradykinesia) in 1 (1.7%). No other MD was detected. The mean scores indicated mild clinical signs in all cases. Symptoms were considered subjectively mild with no functional interference. CONCLUSION: Almost one quarter of patients using CsA chronically presented MD, almost always mild and transitory action tremor, with minimal interference on daily living activities, not requiring any form of intervention in the majority of cases.

Adult↗

PubMed2005

Status Dystonicus: study of five cases.

Status Dystonicus (SD) is characterized by generalized muscle contractions in dystonic patients. We report 5 cases of SD, two of which in patients with dystonic cerebral palsy, one in a patient with primary segmental dystonia, one in a patient with Hallervorden-Spatz syndrome and one in a patient with Wilson's disease (WD). Three patients were admitted to an intensive care unit and treated with propofol and midazolam, and two were submitted to neurosurgical procedures (bilateral pallidotomy and bilateral pallidal deep brain stimulation). Triggering factors were identified in three patients as follows: infection, stress-induced and zinc therapy for WD. On follow-up, two patients presented with significant improvement of dystonia, whereas the other three cases the clinical picture ultimately returned to baseline pre-SD condition.

Adult↗

PubMed2005

Leber's hereditary optic neuropathy--case report and literature review.

CONTEXT: Leber's hereditary optic neuropathy is an important cause of progressive painless visual loss among young male patients. OBJECTIVE: To report on a case of a young patient with a clinical and neurophysiological condition suggestive of Leber's hereditary optic neuropathy, confirmed by genetic testing. CASE REPORT: We describe a 17-year-old male with progressive bilateral visual loss. Two maternal uncles had had similar patterns of visual loss. The patient had a history of smoking and alcohol abuse. Neuro-ophthalmological examination revealed visual acuity of 20/800 in both eyes, with decreased direct and consensual pupillary light reflexes. Fundus examination demonstrated pale optic discs. The visual evoked potential test showed signs of conduction disturbances in both optic nerves and campimetric study showed complete visual loss in all fields of both eyes. A diagnosis of bilateral optic neuropathy with a clinical suspicion of Leber's hereditary optic neuropathy was made. A blood sample was submitted to genetic analysis in relation to the principal mutations of this disorder, and homoplasmic mutation in 11778 was detected, thereby confirming the diagnosis of Leber's hereditary optic neuropathy.

Adolescent↗

PubMed2005

Frequency of obsessive and compulsive symptoms in patients with blepharospasm and hemifacial spasm.

BACKGROUND: Blepharospasm (BS) is a form of central focal dystonia recently associated with psychiatric disorders, particularly obsessive and compulsive symptoms. Hemifacial spasm (HFS) represents a focal myoclonus with peripheral origin in the facial nerve. OBJECTIVE: To determine the frequency of obsessive and compulsive symptoms in patients with BS in comparison with patients with HFS. METHODS: 30 patients from each group (BS and HFS) followed by the botulinum toxin clinic at the HC-UFPR were evaluated using a structured interview based on the DSM-IV criteria and the Yale-Brown scale. Results were compared by the mean two-tailed t test. RESULTS: We found obsessive or compulsive symptoms in 20 (66.6%) patients with BE and 21 (70%) with HFS. Yale-Brown scale scores for each group were higher among BS patients; however, diferences were not statisticaly significant. CONCLUSION: Our study did not show a significant diference in the comparison of the prevalence of obsessive and compulsive symptoms among patients with BS and HFS.

Adult↗

PubMed2005

Limb-girdle muscular dystrophy: an immunohistochemical diagnostic approach.

The limb-girdle muscle dystrophy (LGMD) represents a heterogeneous group of muscular diseases with dominant and recessive inheritance, individualized by gene mutation. A group of 56 patients, 32 males and 24 females, with suggestive LGMD diagnosis were submitted to clinical evaluation, serum muscle enzymes, electromyography, muscle biopsy, and the immunoidentification (ID) of sarcoglycans (SG) alpha, beta, gamma and delta, dysferlin and western blot for calpain-3. All the patients had normal ID for dystrophin (rod domain, carboxyl and amine terminal). The alpha-SG was normal in 42 patients, beta-SG in 28, beta-SG in 45, deltaSG in 32, dysferlin in 37 and calpain-3 in 9. There was a reduction in the alpha-SG in 7 patients, beta-SG in 4, gamma-SG in 2, and delta-SG in 8. There was deficiency of alpha-SG in 7 patients, beta-SG in 6, gamma-SG in 9, delta-SG in 5, dysferlin in 8, and calpain-3 in 5. The patients were grouped according the ID as sarcoglycans deficiency 18 cases, dysferlin deficiency 8 cases and calpain-3 deficiency 5 cases. Only the sarcoglycans deficiency group showed calf hypertrophy. The dysferlin deficiency group was more frequent in females and the onset was later than sarcoglycan and calpain-3 deficiency groups. The calpain-3 deficiency group occurred only in males and showed an earlier onset and weaker muscular strength.

Adolescent↗

PubMed2004

Parkinsonism associated with neurocysticercosis.

We report two cases of brainstem cysticercotic ependymitis presenting with rigid-akinetic syndrome. There was a good response to levodopa therapy as well as cysticidal therapy with albendazole, allowing later reduction of levodopa dosage in one patient and complete withdrawal in the other.

Adult↗

PubMed2003

[Lay knowledge about stroke].

The significance of the risk factors and the rapid diagnosis of encephalic vascular disease (EVD) is the reason for this research, where the authors decided to register and analyze the non-medical people knowledge about these risk factors and the symptoms of this group of disease. For this purpose a questionnaire with questions about these facts was applied to 500 voluntaries without pre-selection, 72.6% of them with ages between 16-35 years old, and the answers analyzed by statistical methods. The authors recognized that the risk factors has a good level of knowledge by this population (87.8 % for hypertension, 76.8 % for smoking, 70.8 % for obesity, 68.7 % for sedentary persons, 66.7 % to stress, 66.3 % to alcohol ingest, 60.7 % for fat diet, 59 % to illicit drugs) while the signs and symptoms of EVD has a minor level of knowing and correction: lost sensitivity 70.3 %, headache 64.2 %, twisted mouth 59.5 %, lost or altered speech 57.5 %, dizziness 56 %, syncope 51.7 %, amaurosis 50.3 %, disequilibrium 45 %, deafness 31.2 %, weakness 41.1 %, nervousness 20.7%, chest pain 20.2 %, fatigue 15.3 % and tinnitus 18.9 %. According this data, the authors suggest that the correction or prevention of risk factors as well the precocious medical attention by the recognition of symptoms of EVD must be the object of public health programs.

Adolescent↗

PubMed2003

Study comparing the stroke unit outcome and conventional ward treatment: a randomized study in Joinville, Brazil.

BACKGROUND AND PURPOSE: To assess the impact of a stroke unit (SU) on acute phase treatment when compared to a conventional general ward treatment (GW). METHOD: Seventy-four patients with acute stroke were randomized between a SU and conventional general ward (GW). We compared both groups regarding the length of hospital stay, lethality and functional and clinical status within 6 months, using the Scandinavian scale and Barthel index. RESULTS: Thirty-five and thirty-nine patients were allocated at SU and GW, respectively. Lethality on the 10th day at SU and GW achieved 8.5% and 12.8% respectively (p= 0.41), whereas 30-days mortality rates achieved 14.2% and 28.2% (p= 0.24), 17.4% and 28.7% on the 3rd month (p= 0.39), and 25.7% and 30.7% on the 6th month (p= 0.41). Thirty-day survival curve achieved 1.8 log rank (p= 0.17), with a trend for lower lethality in the SU. In order to save one death in 6 months in SU, NNT (the number need to treat) was 20; to get one more home independent patient NNT was 15. No significant difference was found between the length of hospital stay and morbidity. CONCLUSION: No significant benefit was found in SU patients compared to GW group. However,an evident benefit in absolute numbers was observed in lethality, survival curve and NNT in thirty days period after stroke. Further collaborative studies or incresead number of patients are required to define the role of SU.

Acute Disease↗

PubMed2003

Botulinum toxin for treatment of Frey's syndrome: report of two cases.

Frey's syndrome is a phenomenon of hemifacial flushing and sweating after gustatory stimulus, usually secondary to surgical trauma over the parotid gland, although other injury mechanisms may be seen. It is accepted as a result of aberrant regeneration of facial autonomic nerve fibers. Treatment evolved from ineffective medical and surgical approaches to botulinum toxin. We evaluate the effectiveness and safety of botulinum toxin in the treatment of this complication in two patients.

Adolescent↗

PubMed2003

[Worsening of autosomal dominant restless legs syndrome after use of mirtazapine: case report].

We report the case of a 78 years old female patient with primary restless legs syndrome (RLS) with an autosomal dominant pattern of inheritance. In addition, the patient also had depression. We emphasize the worsening of symptoms of RLS after the use of a selective serotonin uptake inhibitor (mirtazapine), with improvement after the drug was discontinued, and an excellent recovery with the use of low dose dopaminergic agonist (pramipexol).

Aged↗