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Biomedical subjects

M R Gomez

Publications and source records attributed to M R Gomez.

At least 55 records · Page 3Linked to original sources
PubMed1989

Cerebral tuberous sclerosis: postmortem magnetic resonance imaging and pathologic anatomy.

We conducted postmortem magnetic resonance imaging (MRI) studies of five brains from patients with a clinical and pathologic diagnosis of tuberous sclerosis. Areas of prolonged T1 and T2 relaxation could easily be identified within the white matter subjacent to the cortical tubers despite formalin fixation and storage. The signal changes were identical to those reported in living patients with the disease. The detection of cortical tubers by MRI in two patients who were 34 and 35 years of age, respectively, at the time of death suggests that the signal changes on MRI are less affected by aging than are the low-attenuation changes on computed tomography, which are rarely identified in patients older than 27 years of age. Once the changes caused by fixation of tissues are considered, postmortem MRI is a viable investigative tool in studying tuberous sclerosis and other diseases, and it seems to correlate well with the MRI findings in living patients, as well as the gross and histopathologic changes seen at autopsy.

Adolescent↗
PubMed1989

Strokes in tuberous sclerosis: are rhabdomyomas a cause?

Abnormalities of the cerebral arteries and the aorta are more common in young patients with tuberous sclerosis than in the rest of the population. Strokes have been reported but there is no confirmation that embolization of cerebral arteries by fragments of cardiac rhabdomyoma plays a role in the higher incidence of strokes in these patients.

Cerebrovascular Disorders↗
PubMed1989

Cerebral tuberous sclerosis: MR imaging.

Nineteen patients with a clinical diagnosis of tuberous sclerosis were examined with high-field-strength magnetic resonance (MR) imaging. Their ages ranged from 6 months to 12 years. In 17 cases, the MR examinations showed both subependymal nodules and multiple peripheral gyral lesions consistent with cortical tubers. Cortical tubers were more frequently demonstrated on spin-echo images obtained with a long repetition time (TR). Because the signal abnormality was located predominantly in the subcortical portion of the tubers, the terms "gyral core" and "sulcal island" were used to describe the patterns noted at MR imaging. Subependymal nodules were best seen on inversion-recovery or short TR spin-echo images, although hypointensity within the nodules consistent with calcification was present in 14 patients and was most evident on long TR spin-echo images. Computed tomographic (CT) scans that had been obtained within 3 years of MR images were available for 13 patients. Intracranial calcification was more accurately diagnosed with CT. However, MR imaging is more sensitive than CT in the detection of gyral tubers and, thus, may be better for screening family members and others in whom tuberous sclerosis is a possibility.

Brain↗
PubMed1988

Diagnosis of Lafora disease by skin biopsy.

The Lafora type of progressive myoclonus epilepsy is a rare and fatal familial disease characterized by seizures, myoclonus, and dementia. This diagnosis was confirmed in 2 patients by demonstrating the presence of intracytoplasmic polyglucosan bodies, or Lafora bodies, in the peripheral portion of the eccrine sweat gland duct. Exclusive use of the periodic acid-Schiff stain is recommended for demonstrating these diagnostic inclusions. Electron microscopy reveals fine pale-staining filaments, fine dark-staining granules, and dark-rimmed vacuoles within these non-membrane-bound inclusions. Skin biopsy is the preferred method of confirming the diagnosis of Lafora disease.

Adolescent↗
PubMed1988

Prognosis in Sturge-Weber disease: comparison of unihemispheric and bihemispheric involvement.

One hundred two patients with Sturge-Weber disease who were seen at the Mayo Clinic between 1942 and 1986 were studied retrospectively to determine the difference in prognosis between unihemispheric (88 patients) and bihemispheric (14 patients) involvement. Seizures occurred in 63 with unihemispheric involvement and 13 with bihemispheric; the mean age at onset of seizures was 24 months in the former and 6 months in the latter. Of the total group, 19% were severely or moderately mentally retarded, 27% were mentally retarded but educable, and 45% had average intelligence. In the bihemispheric involvement group, 46% were severely or moderately mentally retarded, 38% were retarded but educable, and only 8% had average intelligence. Bilateral involvement of the brain by Sturge-Weber disease is associated with earlier onset of seizures and worse prognosis for mental development compared with unilateral involvement.

Adolescent↗
PubMed1988

Seizures induced by exercise.

Three patients had a clinical history of epileptic seizures during exercise. In all three patients, generalized epileptiform EEG abnormalities were activated by exercise, whereas none had paroxysms during resting wakefulness or during hyperventilation, and only one had a paroxysmal discharge during sleep. Advice to epileptic patients about physical activity should be based on a careful history of individual tolerance. In doubtful cases, an EEG recorded during exercise can provide evidence for an epileptic mechanism.

Adolescent↗
PubMed1988

Varieties of expression of tuberous sclerosis.

The major and minor manifestations of tuberous sclerosis are reviewed and considerations for diagnosis of this complex and progressive disorder. Emphasis is placed on the extremely variable nature of tuberous sclerosis, as well as on its occasional fetal (or embryologic) onset.

Diagnosis, Differential↗
PubMed1987

Renal lesions in tuberous sclerosis.

The renal lesion classically associated with tuberous sclerosis is angiomyolipoma. Renal cysts are less frequent, occurring alone or in conjunction with angiomyolipomas. We reviewed the records of 274 patients with tuberous sclerosis registered at our clinic. Of 95 patients evaluated for renal lesions 51 (54 per cent) had positive findings: 45 had angiomyolipomas, 17 had renal cysts and 11 had both lesions. These lesions usually are multiple and bilateral, and are diagnosed most effectively with computerized tomography or ultrasound. Surgery (10 kidneys) was done for life-threatening hemorrhage or suspected malignant lesions.

Adolescent↗
PubMed1986

Spectrum of cardiac involvement in Friedreich's ataxia: clinical, electrocardiographic and echocardiographic observations.

Combined 2-dimensional and M-mode echocardiography was used to assess the cardiac status of 22 patients with Friedreich's ataxia, and the findings were correlated with the clinical and electrocardiographic (ECG) data. Mean age at onset of Friedreich's ataxia was 8 years (range 3 to 18); mean age at echocardiography was 18 years (range 8 to 39). Echocardiographic findings were abnormal in 19 patients (86%). The 3 patients with normal echocardiographic findings did not have cardiac symptoms, but 1 had ECG repolarization abnormalities. Concentric left ventricular (LV) thickening, the most common echocardiographic finding, was found in 15 patients (68%) and in all 15 the papillary muscles were thickened. These 15 patients had ECG repolarization abnormalities and 5 had left-axis deviation; however, only 3 satisfied ECG criteria for LV or right ventricular hypertrophy. Two of the 15 patients (9%) had symptoms of heart failure. Two patients had asymmetric septal thickening without clinical evidence of LV outflow tract obstruction; neither had cardiac symptoms, but both had ECG repolarization abnormalities. Two patients showed a dilated cardiomyopathy pattern; both had heart failure and atrial flutter. One of these patients died, and necropsy revealed 4-chamber cardiac dilatation, biventricular hypertrophy and histologic findings of diffuse interstitial fibrosis, myocellular hypertrophy and necrosis. This study revealed a wide spectrum of cardiac abnormalities in patients with Friedreich's ataxia.

Adolescent↗
PubMed1985

Incidence and prevalence of tuberous sclerosis in Rochester, Minnesota, 1950 through 1982.

The incidence of tuberous sclerosis in Rochester, MN, was 0.56 per 100,000 person-years in 1950 through 1982, and point prevalence on December 31, 1980, was 10.6 per 100,000 persons. The true incidence and prevalence may be even higher, because cases with hypomelanotic macules and no other clinical manifestations are often unrecognized. Pertinent clinical observations in the eight cases identified included familial occurrence in two; hypomelanotic macules in all eight; seizures with onset before age 2 in four, of whom two were mentally retarded; and no neurologic abnormalities in those free of seizures.

Adolescent↗
PubMed1984

Hereditary form of sustained muscle activity of peripheral nerve origin causing generalized myokymia and muscle stiffness.

Six patients in two unrelated families had a hereditary form of sustained muscle activity of peripheral nerve origin. Although varying in severity among affected family members, the disease was manifested clinically as generalized myokymia and muscle stiffness. Motor and sensory nerve conduction velocities and results of nerve biopsy were normal. Repetitive after-discharges followed each motor nerve stimulus. Needle electrode examination demonstrated spontaneous recurrent bursts of motor unit activity. The burst activity of a motor unit occurred rhythmically (0.5 to 4 bursts per second) and independently of the activity of other units. Within a burst, the firing rate was high (150 to 300 Hz). The clinical and electromyographic abnormalities improved considerably after treatment with carbamazepine or phenytoin.

Adolescent↗
PubMed1983

Myasthenia gravis in children: long-term follow-up.

We report observations made on 149 patients with juvenile myasthenia gravis studied from onset of disease for as long as 40 years. Median follow-up was 17 years; minimum was 4 years. Eight other patients with congenital myasthenia gravis were studied separately. Of the juvenile myasthenic patients, 85 (57%) underwent thymectomy because of diseases severity. In juvenile myasthenia gravis, a spontaneous remission rate of 22.4 per 1,000 person-years was observed, regardless of disease duration. A remission rate of 260 per 1,000 person-years was seen during the first year after thymectomy, with a rate of 95 per 1,000 person-years during the next 2 years. Early surgery, presence of bulbar symptoms, absence of ocular signs or generalized symptoms, onset of symptoms between ages 12 and 16, and presence of other immune disease were associated with increased postoperative remission rates. Epilepsy (4 patients) and neoplasia (7 patients) were the most frequent associated nonimmune disorders; rheumatoid arthritis (5 patients), juvenile-onset diabetes mellitus (3 patients), asthma (3 patients), and thyroid disease (3 patients) were the most frequent associated immune diseases.

Adolescent↗
PubMed1982

Tuberous sclerosis, early onset of seizures, and mental subnormality: study of discordant homozygous twins.

In two sets of male homozygous twins with tuberous sclerosis, one twin in each set suffered frequent generalized seizures from early life, and the second either had no seizures or had only short-lived seizures. One twin of each pair is of normal intelligence, and the other is mentally subnormal. We propose that generalized seizures occurring in early life are an important mechanism in an apparently progressive dementing process in some infants and children with tuberous sclerosis. If our assumption is correct, an early attempt to control generalized seizures in these patients is indicated even in the presence of the cortical, subcortical, and subependymal pathologic changes characteristic of cerebral tuberous sclerosis.

Brain↗
PubMed1981

Occupational health in Cuba.

Health and safety regulation, training, and research were practically non-existent in Cuba before the Revolution in 1959. Since that time important advances have been made. Specialized inspectors, occupational physicians, and other such personnel are now trained in Cuba. An Occupational Health Institute, founded in 1976, provides training and specialized technical services, and conducts research. In 1978, a far reaching "Work Safety and Health Law" was enacted which defines the rights and responsibility of government agencies, workplace administrators, unions, and workers. Comprehensive control of toxic substances in workplaces, still at an early stage, is likely to increase in light of the new law, the growing availability of qualified personnel, and the mounting concern of public health authorities with the increasingly "developed" health profile of the population.

Cuba↗