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Biomedical subjects

A Fois

Publications and source records attributed to A Fois.

At least 55 records · Page 3Linked to original sources
PubMed1990

Use of intravenous immunoglobulins in drug-resistant epilepsy.

Among the 257 pediatric patients examined, 104 were classified as having drug-resistant epilepsy (DRE). In all of them genetic, metabolic, chromosomal and infectious causes were investigated, and brain imaging with computed tomography scans and nuclear magnetic resonance were obtained. Since treatment with gammaglobulins (GGs) has been reported to be useful in pediatric cases of epilepsy, informed consent for GGs treatment was obtained in 43 patients with DRE. The etiology or evidence of brain lesions was identified in 16 of them. In 31 of these patients, neither conventional drug treatment, nor a trial with adrenocorticotropic hormone was successful. Intact monomeric GGs, 400 mg/kg, were given intravenously. A second dose was given after 15 days and, thereafter, every 21 days for a maximum of ten injections (protocol A), or every 2nd day for a maximum of five doses (protocol B). In every patient, the type of epilepsy was identified according to the classification of the International League Against Epilepsy. The frequency of seizures was recorded for a period beginning at least 6 months before the administration of GGs. Immunological evaluation was also performed before and after the treatment with GGs. A transient decrease of the seizure frequency was noted in 12 subjects. In another patient with infantile idiopathic myoclonic epilepsy, seizures disappeared for 30 months. In 1 case a persistent 80% reduction in the number of seizures was observed. A persistent disappearance of seizures was noted in a subject with complex partial seizures (CPS) that followed an idiopathic infantile spasm syndrome.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1988

First trimester prenatal diagnosis of Sanfilippo disease (MPSIII) type B.

Two pregnancies of a family at risk for Sanfilippo disease type B were monitored in the first trimester. In one case an affected fetus was diagnosed on chorionic villi by the assay of N-acetyl-alpha-D-glucosaminidase and confirmed on cultured fibroblasts from the aborted fetus. Pathological findings are also reported and compared with changes observed later in life. The disease was excluded in the second pregnancy.

Acetylglucosaminidase↗
PubMed1988

Chromosome abnormalities in tuberous sclerosis.

In fibroblasts cultured from biopsies of the skin lesions of six patients with tuberous sclerosis (TS) there was a variable but consistent degree of karyotypic variation. Premature centromere disjunction (PCD) of all or part of the chromosomes, micronuclei, an increased incidence of breaks, dicentric chromosomes and the presence of polyploid metaphases were found in all cultures. The PCD was of the type encountered in Roberts syndrome and its frequency varied from 8% to 30%. In metaphases with PCD of one and of two chromosomes, the chromosome involved were identified, and chromosome 3 was involved 21 times among 59 chromosomes with PCD. Chromosome 3 tends to be preferentially involved in dicentric formation. In lymphocyte cultures from the same patients there were no metaphases with PCD, but there was a slight increase of breaks and the presence of dicentric chromosomes, also involving chromosome 3. Polyploid metaphases were increased in some of the cases. Karyotypic variation can be considered a cellular phenotypic characteristic of TS in fibroblasts cultured from the skin lesions, and its type indicates disturbances in the mechanics of centromere division and of chromosome distribution at cell division.

Adolescent↗
PubMed1988

Trichothiodystrophy without photosensitivity. Biochemical, ultrastructural and DNA repair studies.

A case of trichothiodystrophy (TTD) without photosensitivity is reported in an 8-year-old girl. Electron microscopic (EM) examination of the keratinocytes showed fibrillary bundles in the cytoplasm thinner and less electron dense than those of the normal cells and large membrane-bound vacuoles filled with granular-filamentous material. These findings could indicate a disturbance in the protein metabolism in tissues of ectodermal origin, explaining also the functional abnormalities of the central nervous system in TTD patients. The results of cellular DNA repair studies after UV irradiation in cultured fibroblasts showed normal levels of unscheduled DNA synthesis. This finding indicates that UV hypersensitivity is not constantly present in TTD.

Amino Acids↗
PubMed1988

Intractable epilepsy: etiology, risk factors and treatment.

The data emerging from our study are the following: the presence of an identifiable cause is important: complications like tuberous sclerosis or signs of marked cerebral damage represent an adverse risk factor for IE. The presence of epilepsy among relatives, evidence of pre- or perinatal cerebral damage, mental retardation, and early onset, long periods of uncontrolled seizures before starting an adequate therapy and frequency of seizures appear to be indicative of an adverse prognosis, since differences between the two groups of responsive or unresponsive patients are statistically significant. On the contrary, the occurrence of febrile convulsions in the past history does not seem to have an adverse prognosis. Temporal lobe epilepsy and IS bear the worst prognosis. ME, CPS, GTCS, SPS, LGS and PM have a progressively better outcome in responsiveness to AEDs. Concerning therapy in patients with IE, studies indicate the results of high dose monotherapy appear to be equal or better than with polypharmacy. Because of the gravity of the situation, trials with unconventional drugs have been performed, but it is too early to draw definite conclusions about the long-term usefulness of most of them. In conclusion, our data indicate that the appearance of an IE can be predicted utilizing the above mentioned criteria, considered either alone or in combination. The issue of IE remains undoubtedly an important one among the group of convulsive disorders. Further studies considering a greater number of patients and new therpeutic strategies are to be recommended.

Anticonvulsants↗
PubMed1987

Free sialic acid storage disease. A new Italian case.

Increased amounts of free sialic acid were found in cultured fibroblasts and urine of a 4-year-7-month-old Italian boy with mental retardation, hypotonia, failure to thrive, coarse facial features, convergent strabismus, pale skin and fair hair. Ultramicroscopic examination of conjunctival and skin tissues showed a number of membrane-bound vacuoles containing low-density granular material in the cytoplasm of the fibroblasts. The clinical, biochemical and ultrastructural findings are similar to those described in Salla disease. Neuraminidase activity is normal. The molecular basis of the sialic acid storage disease is not known. Evidence for defective transport of sialic acid across the lysosomal membrane has been demonstrated in the patient's fibroblasts. It is possible that this might represent the metabolic abnormality.

Carbohydrate Metabolism, Inborn Errors↗
PubMed1987

Clinical experiences of petit mal.

Petit mal is a condition characterized by absences accompanied on EEG by discharges of 3/sec spike and waves lasting more than 3-4 seconds. In 145 patients with pure petit mal (PPM) these were the only findings. They were associated with other types of seizures (APM) in 52 subjects and with myoclonic jerks of the upper limbs. (MPM) in 8. Clinical and EEG normalization was obtained in 93/111 patients with PPM with adequate therapy (84%), while the same outcome was observed in 7/31 (22%) of the subjects without adequate therapy. In the group with APM, clinical and EEG normalization was obtained in 26/34 (76%), while it was observed in 3/18 (16%) of the patients who received inadequate therapy. Among the patients with MPM, clinical but not EEG normalization was obtained in 4/8. The personal history showed a high percentage of febrile convulsions. IPS was also frequently positive. The prognosis of PM seems to be mainly related to adequate therapy. The presence of other types of seizures does not significantly modify the prognosis provided that the therapy is adequate. It is, however, important to note that signs or symptoms of neurologic impairment were rare in this group of patients, probably due to the criteria chosen for the selection of patients.

Acetazolamide↗
PubMed1987

Further observations on the treatment of infantile spasms with corticotropin.

The results of corticotropin treatment of 33 subjects with infantile spasms are reported. In 8 patients the disease was idiopathic and in 25 secondary. Among the idiopathic cases, full clinical and EEG normalization was obtained in 5. No anticonvulsants were given after the corticotropin treatment. All children have remained normal without therapy. Among the 25 secondary cases, complete normalization was obtained in one with meningioma and improvement in 15 others. The dosage of ACTH was usually 2 U/Kg/bw for 10 days and 10 U/Kg/bw on alternate days for a further 20 days. These findings indicate that therapeutic results quite similar to the most favourable reported in the literature can be obtained, with few side effects, with a low dosage and a short period of treatment with corticotropin.

Adrenocorticotropic Hormone↗
PubMed1985

Giant axonal neuropathy. Endocrinological and histological studies.

A case of giant axonal neuropathy (GAN) in a boy of 4 years and 6 months, is reported. Nerve conduction velocity (NCV), EEG and CT scan indicated both peripheral and central nervous system involvement. Intestinal absorption tests did not reveal vitamin B12 malabsorption; the endocrine situation was found to be substantially normal. The clinical picture was not modified by 18 months cyanocobalamine administration followed by 2 months therapy with prednisone. Electron microscopic (EM) examination revealed longitudinal and opposing grooves (pili canaliculi) in the hair and bundles of neuro-filaments in the myelinated and unmyelinated nerve fibre axons in sural nerve. EM of conjunctiva and skin revealed masses of intermediate-sized filaments within mast cells, fibroblasts, melanocytes, endothelial and Schwann cells. These findings confirm the hypothesis that GAN is a generalised abnormality of cytoplasmic microfilament formation, probably linked to an unknown disorder of protein metabolism.

Axons↗
PubMed1985

Human erythrocyte hexokinase deficiency: a new variant with abnormal kinetic properties.

A 14-month-old child who had a haemolytic episode when he was 5 years old, and with psychomotor retardation, was found to have decreased red cell hexokinase activity. The mutant enzyme was characterized by an increased affinity for glucose associated with an increased inhibition constant for glucose-1,6-diphosphate. Affinity for Mg ATP2-, heat stability and pH-optimum were normal. The isozymic pattern of the red cell enzyme was normal but all the molecular forms were present in reduced amounts. The kinetics of decay of hexokinase during cell ageing was also normal. Glucose consumption of the hexokinase deficient cells was 60-65% of the controls while the amount metabolized through the hexose monophosphate shunt was unchanged. Red cell 2,3-diphosphoglycerate and glucose-6-phosphate levels were normal in the proband but reduced in the erythrocytes of his parents, who were heterozygous for the defect but had normal haematological data. Comparison with the 13 previously reported cases of hexokinase deficiency confirms the broad phenotypic variability that characterizes this disorder.

Blood Glucose↗
PubMed1984

Infantile spasms--long term results of ACTH treatment.

From a series of 230 subjects with infantile spasms (I.S.) observed from 1955 to 1982, 191 cases with sufficient data on follow-up and evaluation were selected. The period of follow-up in 100 subjects ranged from 3 months to 3 years and was more than 3 years in the remaining 91 patients. Disappearance of spasms and normal psychomotor development was observed in 34 of the 61 idiopathic and post-infectious cases. In 130 subjects with secondary forms normal psychomotor development was observed in only two patients; disappearance of spasms was noted in 54 and normalisation of the EEG in 13 subjects. Satisfactory long term results can be obtained with a relatively low dose of corticotropin in a considerable number of patients having idiopathic and post-infectious forms of I.S. To obtain the best results treatment should be started as soon as possible.

Adrenocorticotropic Hormone↗