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Biomedical subjects

E Rafel

Publications and source records attributed to E Rafel.

16 recordsLinked to original sources
PubMed1991

Continuous muscle activity and distal spinal muscular atrophy.

A young man presented with myokymias, cramp-like difficulty in muscle relaxation and peroneal atrophy. EMG studies revealed continuous muscle activity (CMA) manifested as grouped potentials and high frequency discharges. Sensory nerve conduction studies and sural nerve biopsy gave normal results, and he was thought to suffer from distal spinal muscular atrophy with CMA. This association suggests that the lower motor neuron may have an important role in the generation of the continuous muscle activity.

Adult↗
PubMed1991

[Complex I (NADH coenzyme-Q-reductase) deficiency, MELAS syndrome and hypertrophic cardiomyopathy].

A 24-year-old male had a deficiency of the complex I (NADH coenzyme-Q-reductase) of the mitochondrial respiratory chain, which clinically presented as a mitochondrial encephalomyopathy, with lactic acidosis and stroke-like episodes (MELAS syndrome). The encephalopathic episodes were preceded by migraine and were characterized by focal deficit signs, motor partial seizures and hypodense areas in the CT scan. An echocardiographic diagnosis of hypertrophic cardiomyopathy without intracavitary thrombi was made. It is suggested that hypertrophic cardiomyopathy is caused by the mitochondrial abnormalities that have been reported in the myocardium, and that migraine and cerebral infarctions are associated with abnormalities in the mitochondria from the endothelium and smooth muscle fibres of the cerebral small arteries and arterioles.

Acidosis, Lactic↗
PubMed1990

Familial hypertrophic cardiomyopathy and muscle carnitine deficiency.

Five members of the same family, along three generations, presented with hypertrophic cardiomyopathy. Neurological examination, muscle strength, electromyography, and serum creatine kinase were normal. Skeletal muscle biopsy showed abnormal lipid accumulation and carnitine deficiency. In three patients the cardiac symptoms and echocardiographic findings improved after treatment with L-carnitine, 3-4 g daily, and a long-chain fatty-acid-free diet.

Adolescent↗
PubMed1987

Late onset parkinsonian syndrome in Hallervorden-Spatz disease.

Two siblings, from consanguineous parents, developed in their twenties a Parkinsonian syndrome. In the elder, the disease evolved for 13 years and the necropsic study was diagnostic of Hallervorden-Spatz disease. The younger sibling is severely affected after 12 years of the disorder. Several CT and one MR studies done in this patient during the last 4 years have been normal. Ultrastructural studies of the bone marrow histiocytes and blood lymphocytes disclosed peculiar inclusions. Bromocriptine in low doses proved to be a beneficial therapy for this patient.

Adult↗
PubMed1987

Invasion of human embryo by Enterobius vermicularis.

Two Enterobius vermicularis organisms invading a macerated embryo 2 cm in length were found in the tissue from an endometrial curettage performed for missed abortion in a pregnant woman. Ova from the helminths were recovered from the vagina and endometrium of the patient. This most unusual case provides further evidence for the invading capacity of E vermicularis.

Abortion, Missed↗
PubMed1983

Dialysis myopathy. Report of 13 cases.

Thirteen patients hemodialyzed for chronic renal insufficiency developed progressive paresis of the proximal musculature. Biopsies of the deltoid muscles of ten patients showed selective atrophy of type 2 fibers, the cause of which seems to be related to the osteomalacia present in those patients. Purification of the water for dialysis prior to the procedure prevents the muscle alteration: however, once the lesion is established only renal transplant will permit recovery of the muscle strength of the patient.

Adult↗
PubMed1983

Facilitating myasthenic syndrome and quadriceps myopathy.

A patient presented with myasthenic syndrome apparently not related to any neoplasia. A peculiar myopathy characterized by absolute predominance (99.50%) and atrophy of type 2A muscle fibers was found in both quadriceps muscles. It is difficult to determine the relation between the myasthenic syndrome and the localized quadriceps myopathy for which a congenital nature is suggested.

Adult↗
PubMed1980

Increased mechanical muscle irritability syndrome.

The patient reported here presented electrically silent rolling movements of the muscle under hand compressions, myoedema and myotonia-like muscle responses to mechanical stimulation. These muscle contractions suggest a disturbance of the function of the myofibrillar apparatus. Th neuromuscular syndrome of our case is similar to the muscular disorder described by Torbergsen (1975), but in addition histochemical and electron microscopic studies of the muscle showed morphological abnormalities not related to any specific muscle disease. Furthermore, a cerebellar syndrome attributed to a cerebellar atrophy was the patient's main complaint. Both the neuromuscular syndrome and the cerebellar disorder were semeiologically independent of each other.

Atrophy↗
PubMed1980

[Giant cell pneumonia. Complication in one case of acute lymphoblastic leukemia (author's transl)].

A patient suffering from acute lymphoblastic leukemia, in complete remission for two years, is treated for haematologic relapse with V.P.D. and C.O.A.P. consolidation. After this treatment, develops tiredness, sleepiness, a slight fever and cough, dying some days after, of interstitial pneumonia. Post-mortem anatomic-pathological studies, show giant cell multinucleated pneumopathia, with intranuclear inclusions bodies, that in ultrastructural level resembles paramyxovirus. When this complication took place, the patient had a brother with measles, but he hasn't, the typical symptomatology of said virus disease. According to Siegel, authors point out the frequency of death due to interstitial pneumonia as a complication caused by measles in immunodeficient patients, remarking the importance of an immediate diagnosis and its' prophylaxis.

Antineoplastic Agents↗
PubMed1978

Hereditary distal myopathy with onset in early infancy. Observation of a family.

The study of a family affected with hereditary distal myopathy with onset in early infancy is presented. Complete neurological examination was necessary in several members of the two last generations to discover the existence of the abnormalities of which they were unaware. The propositus was the most affected member of the family iwth distal paresis of the upper and lower extremities and selective paresis of the deltoid muscles. In addition he had kyphoscoliosis, talipes valgus and limitation of mobility of several joints. The onset of the disease was estimated as before the age of 2 when the child started walking. There was no progression of the disease. Clinical examination suggested a myopathic origin of the condition. A sural nerve biopsy was normal. Light-microscopy histochemical studies disclosed a predominance of type I fibres which were at the same time hypotrophic. Subsarcolemmal deposits of mitochondria were present although they were scanty and of normal ultrastructural appearance. In view of the morphological presentation it is postulated that this disease should be classified within the groups of myopathies accompanied by disproportion of fibres and selective atrophy of type I fibres.

Adult↗
PubMed1978

Intracardiac heterotopia--mesenchymal and endodermal.

A case is reported of an intracardiac 'epithelial heterotopia' with a predominant mesenchymal component. This is thought to have resulted from the differentiation of aberrant primitive cell(s) displaced into the heart during its development. Though microscopically resembling a myxoma, this lesion is clearly distinguished by the presence of glandular structures. The myxoid component exhibited a startling invasiveness which resulted in occlusion of the superior vena cava, causing symptoms very early in life and death at the age of 6 months.

Choristoma↗
PubMed1978

Myotonia in centronuclear myopathy.

Centronuclear myopathy, which is unusual because of clinical myotonia, is described in two sisters. The diagnosis was established in adult life, but the first symptoms were noticed in infancy. The outstanding points of the clinical picture were mild amyotrophy, paresis, and clinical myotonia.

Adenosine Triphosphatases↗
PubMedDate not supplied

Congenital insensitivity to pain with anhidrosis.

A nine-year-old child presented with congenital insensitivity to pain and anhidrosis. Quantitative studies and electron microscopy of the cutaneous branch of the radial nerve revealed almost complete absence of small myelinated and unmyelinated fibers and a disproportionate number of nerve fibers with a diameter of 6-10 micrometers. A grouping of both type 1 and type 2 muscle fibers was also seen. We suggest that this disease entity is not caused by a hereditary sensory neuropathy, but rather that it derives from a developmental defect.

Child↗
PubMedDate not supplied

[Davidenkow syndrome].

A 31-year-old female had since childhood walking difficulties on her right foot. She subsequently developed a right-sided scapuloperoneal amyotrophy with mild distal sensory sings. Nerve conduction velocities and nerve biopsy showed a peripheral neuropathy, and the case was thought to be an example of Davidenkow's syndrome. At the age of 41, the musculature innervated by the right V, VII, XI and XIIth cranial nerves became impaired and this suggested that the lower motor neuron was also involved precluding this picture from inclusion among the Hereditary Motor and Sensory Neuropathies (HMSN) to which Davidenkow's syndrome has been related.

Adult↗