Biomedical subjects

E Zanoteli

Publications and source records attributed to E Zanoteli.

14 recordsLinked to original sources

PubMed2002

Fukuyama-type congenital muscular dystrophy: a case report in the Japanese population living in Brazil.

INTRODUCTION: We present herein clinical, histological and magnetic resonance imaging (MRI) findings in a patient with Fukuyama-type congenital muscular dystrophy (FCMD). He is the first case report in the Japanese population living in Brazil. CASE REPORT: The child presented with neonatal hypotonia, delayed motor abilities and speech, seizures, cerebral and cerebellar gyrus abnormalities with signal intensity change in the white matter by MRI, high serum level of creatinephosphokinase (CK), and dystrophic skeletal muscle with normal merosin, alpha-sarcoglycan and dystrophin expression. The fukutin gene study showed one founder 3-kb retrotransposal insertion in the 3'-non-coding region, and in the other allele no mutation was detected after screening all exons and flanking introns by sequencing. DISCUSSION: This case report emphasizes the importance to consider FCMD in Japanese people living in other countries.

Brain↗

PubMed2001

Nebulin expression in patients with nemaline myopathy.

Nemaline myopathy is a structural congenital myopathy which may show both autosomal dominant and autosomal recessive inheritance patterns. Mutations in three different genes have been identified as the cause of nemaline myopathy: the gene for slow alpha-tropomyosin 3 (TPM3) at 1q22-23, the nebulin gene (NEB) at 2q21.1-q22, and the actin gene (ACTA1) at 1q42. The typical autosomal recessive form appears to be the most common one and is caused by mutations in the nebulin gene. We have studied the pattern of nebulin labeling, in patients with the typical congenital form (ten patients), the severe congenital form (two patients) or the mild, childhood-onset form (one patient), using antibodies against three different domains of nebulin. A qualitative and quantitative nebulin analysis in muscle tissue showed the presence of nebulin in myofibers from all patients. Some differences relating to the rod structure were observed. The majority of the largest subsarcolemmal rods were not labeled with the N2 nebulin antibody (I-band epitope) and showed an indistinct pattern with the two antibodies directed to the Z-band portion of nebulin (epitopes M176-181 and serine-rich domain). Diffuse rods were not revealed using the three antibodies. A discordant pattern of nebulin N2 epitope labeling was found in two affected sisters with a mutation in the nebulin gene, suggesting that modifications in nebulin distribution inside the rods might occur with the progression of the disease. Western blot analysis showed no direct correlation with immunofluorescence data. In nine patients, the band had a molecular weight comparable to the normal control, while in one patient, it was detected with a higher molecular weight. Our results suggest that presence/absence of specific nebulin Z-band epitopes in rod structures is variable and could depend on the degree of rod organization.

Adolescent↗

PubMed2001

[Oropharyngeal dysphagia in the myotonic dystrophy: phonoaudiological evaluation and nasofibrolaryngoscopical analysis].

We here in present twenty myotonic dystrophy of Steinert patients with the main objective to evaluate and classify the oropharyngeal swallowing by the phonoaudiological clinical and nasofibrolaryngoscopical analysis. The age of the patients varied from 12 to 53 years, being 13 male and 7 female. The mean data: (1) statistically significant relation between the phonoaudiological clinical evaluation and nasofibrolaryngoscopical one; (2) stomatognatical system disorders present in 100%; (3) swallowing disorders present in 95%, when clinically evaluated, and in 70% when evaluated by the nasofibrolaryngoscopy; (4) higher difficulty to swallow consistent feed; (5) stomatognatical muscles very altered, pharyngeal phase disorders, cough after swallowing, antecedents of pneumonia and complaints of chewing/swallowing presented statistically significant correlation with severity of the sickness. The analysis were able to evaluate statical and functionally the involved structures in the swallowing, having got to take part of the routine of attendance to the patients with myotonic dystrophy of Steinert.

Adolescent↗

PubMed2000

Temporomandibular joint involvement in a patient with centronuclear myopathy.

We describe here the temporomandibular joint and masticatory muscle abnormalities disclosed by computed tomography and magnetic resonance imaging in a 25-year-old man with centronuclear myopathy (a congenital myopathy) who presented with marked limitation of jaw movements. We found an intense and general fatty replacement of the masticatory muscles, and magnetic resonance imaging signals indicated articular fibrosis. We conclude that in centronuclear myopathy, the presence of weakness and hypomotility of the masticatory muscles can induce chronic abnormalities of the temporomandibular joint.

Adipose Tissue↗

PubMed1998

Centronuclear myopathy: clinical aspects of ten Brazilian patients with childhood onset.

We herein present 10 patients with the childhood onset form of centronuclear myopathy. All patients underwent a clinical and neurologic examination, and EMG/NVC. A series of ancillary examinations, consisting of muscle enzymes, EEG, EKG, echocardiogram, pulmonary function tests and head CT scan was done in most. The mean age was 16.3 years (3-25). Seven were female. There was no family history in seven and in two it was suggestive of an autosomal recessive inheritance. One patient was adopted and no history was available. Frequent gestational and neonatal abnormalities were present, namely poor fetal movements, maternal polyhydramnios, perinatal hypoxia, hypotonia at birth, and weak crying and feeding. In seven patients there was delayed motor milestones. In most patients the motor involvement was stable or slowly progressive. Upon examination the facies were myopathic and there was a global skeletal muscle involvement in all patients, with muscular hypotonia, atrophy, and areflexia. Characteristically, patients presented with ophthalmoparesis, and weakness of masticatory and facial muscles. We frequently found osteoskeletal abnormalities, namely kyphoscoliosis, tendon retractions and high-arched palate. A restrictive pulmonary function pattern was found in five patients, but only one had a cor pulmonale. CK was abnormally high in one patient, and normal in all others. EMG/NVC disclosed a myopathic pattern in nine; in three there was a mixed neurogenic picture; and in one we found myotonic discharges. A long follow-up (median 8.1 years) showed that only the patient with cor pulmonale had an unfavorable prognosis.

Adolescent↗

PubMed1998

Centronuclear myopathy. Histopathological aspects in ten patients with childhood onset.

Centronuclear myopathy is a rare congenital myopathy. According to the period of onset of signs and symptoms and the degree of muscular involvement three clinical forms are distinguished: severe neonatal; childhood onset; and adult onset. We describe herein the muscle biopsy findings of ten patients with the childhood onset form of the disease including three cases with ultrastructural study. The biopsies disclosed increased nuclear centralization that varied from 25 to 90% of the fibers, type I predominance, great variability in fiber diameters, involvement in the internal fiber's architecture, and focal areas of myofilament disorganization. The main histopathologic differential diagnoses included type I fiber predominance, congenital fiber type disproportion, and myotonic dystrophy. The histologic abnormalities in centronuclear myopathy may be due to an arrest of maturation on the fetal myotubular stage. The cause of this arrest remains elusive.

Adolescent↗

PubMed1995

Epilepsy with continuous spike-waves during slow wave sleep: a clinical and electroencephalographic study.

We report four children with epilepsy with "continuous spike-waves during slow wave sleep" (CSWSS). The main clinical features were partial motor seizures, mental retardation and motor deficit. The EEG findings were characterized by nearly continuous (> 85%) diffuse slow spike and wave activity in two patients, and localized to one hemisphere in two other cases during non-REM sleep. The treatment was effective in improving the clinical seizures, but not the EEG pattern. We believe that this epileptic syndrome has been overlooked and routine sleep EEG studies on epileptic children may disclose more cases of CSWSS.

Age Factors↗

PubMed1995

Atypical EEG pattern in children with absence seizures.

We studied four children with diagnosis of absence seizures (generalized primary epilepsy), and with a generalized delta activity on the EEG during clinical attacks provoked by hyperventilation. The lack of ictal generalized spike-and-wave discharges with a frequency of 3 Hz in our patients, makes this an atypical pattern. All children had complete control of their seizures and disappearance of the EEG changes with valproate. We concluded that generalized delta activity observed on EEG during the hyperventilation in children should not always be considered as a normal finding for age, since it could be an ictal event of an absence seizure.

Child↗

PubMed1995

Atypical pattern related to 14 Hz positive spikes.

We studied two children with a history of headache and a normal physical and neurological examination whose EEG showed an electroencephalographic pattern recently published, the N-shape potential associated with the 14 Hz positive spikes. This graphoelement was observed only during the asleep state.

Adolescent↗

PubMed1995

Subclinical rhythmic electrographic discharge in adults: an atypical evolution.

The subclinical rhythmic electrographic discharge in adults (SREDA) has been rarely reported. We describe the case of a 71 year-old man with transient ischemic attack, whose EEG showed an atypical evolution of this uncommon pattern. The computed tomography scan and cerebrospinal fluid were normal. We are not aware of any other report in the literature with this atypical evolution of SREDA.

Aged↗

PubMed1995

Dipole reversal: an ictal feature in a patient with benign partial epilepsy of childhood with centro-temporal spike.

We describe the case of a 15-year-old boy who had the diagnosis of benign partial epilepsy of childhood with centro-temporal spike. During the EEG a subclinical electrographic seizure was recorded. The discharges were clearly electropositive in T4 with positive phase reversal between derivations F8-T4 and T4-T6. The whole episode lasted less than one minute (45 sec). The interictal right medio-temporal spikes reemerged after 60 sec and were electronegative in the same location after the end of the electrographic seizures. The mechanisms underlying this uncommon pattern on EEG is not well established.

Adolescent↗

PubMed1995

Complex partial status epilepticus in a child.

Complex partial status epilepticus (SE) has been reported rarely in children. We describe the clinical case of a 14 year-old girl with complex partial seizures (CPS) since age 10 who developed a complex partial SE probably because she was not adherent to treatment. The neurologic examination and computed tomography scan were normal. During the SE she received diazepam and phenytoin and became free of the seizures after 5 minutes. The ictal EEG showed spikes and slow waves over the right temporal region.

Adolescent↗

PubMed1995

Atypical clinical and electroencephalographic pattern in a patient with subacute sclerosing panencephalitis.

We describe an atypical clinical and electroencephalographic (EEG) pattern observed during the course of subacute sclerosing panencephalitis in a 14 year-old boy. In this patient with a two weeks history of partial complex seizures, the atypical EEG pattern was characterized by an initial left temporal focus which evolved to periodic lateralized epileptiform discharges (PLEDs) and, only during the 3rd and 4th weeks the typical bilateral and generalized periodic complexes appeared.

Adolescent↗

PubMed1994

[Distal renal tubular acidosis presenting with rhabdomyolysis].

Severe hypokalemia is an uncommon cause of rhabdomyolysis. We describe a patient, 28-year-old woman, with distal renal tubular acidosis (DRTA) who developed severe hypokalemia and rhabdomyolysis. Muscle biopsy shows focal muscular necrosis mainly in type II muscle fibers and mild macrophagic reaction. After correcting the acidosis with oral administration of alkalinizing salts, clinical and laboratory improvement was seen. This clearly establish a causal relationship between the positive acid balance, hypokalemia and the muscular manifestation in DRTA.

Acidosis, Renal Tubular↗