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Biomedical subjects

G Andria

Publications and source records attributed to G Andria.

At least 109 records · Page 6Linked to original sources
PubMed1986

Protein-bound plasma homocyst(e)ine and identification of heterozygotes for cystathionine-synthase deficiency.

We measured protein-bound plasma homocyst(e)ine in 15 normal adult subjects and nine heterozygotes for homocystinuria due to cystathionine beta-synthase deficiency. The mean (+/- SD) concentrations obtained in the two groups of subjects were 4.35 +/- 1.50 and 9.16 +/- 3.40 mumoll-1, respectively. The mean values were significantly different, although the levels of three heterozygotes overlapped those of the control range. This method allows preliminary screening of the heterozygotes for homocystinuria and can be carried out by laboratories that have only facilities for amino acid analysis.

Adult↗
PubMed1985

Genetic complementation of steroid sulphatase after somatic cell hybridization of X-linked ichthyosis and multiple sulphatase deficiency.

Complementation studies of steroid sulphatase were carried out in the heterokaryon population of fibroblasts derived from patients with X-linked ichthyosis and multiple sulphatase deficiency. The activity of steroid sulphatase of the fused cell population was constantly higher (approximately 2-5 fold) than that of the unfused cocultivated cells. The occurrence of complementation further supports the hypothesis that at least two different loci control the expression of steroid sulphatase in the human genome.

Female↗
PubMed1985

Short fourth metacarpal in homocystinuria.

Homocystinuria due to cystathionine synthase deficiency is an autosomal recessive multisystem disease which affects the eye, the cardiovascular system, the central nervous system, the skeleton and occasionally other organs. Archibald's metacarpal sign and Kosowicz's phalangeal sign were evaluated in 11 patients with homocystinuria. A short fourth metacarpal was demonstrated in four patients. Our study represents, to our knowledge, the first systematic evaluation of these skeletal signs in a rather large group of homocystinuric patients.

Adolescent↗
PubMed1985

Prenatal diagnosis of hereditary tyrosinemia by determination of fumarylacetoacetase in cultured amniotic fluid cells.

Fumarylacetoacetase was assayed in cultured amniotic fluid cells from four pregnancies at risk for hereditary tyrosinemia and in 11 controls. The enzyme activity was normal in three of the pregnancies at risk for tyrosinemia and healthy children were born. In the fourth case the enzyme activity was deficient, indicating an affected fetus. As the pregnancy was very advanced it was continued, and the child has tyrosinemia. One parent in one of the four families is a compound heterozygote for the tyrosinemia gene and the recently reported "pseudodeficiency" gene for fumarylacetoacetase. This has important consequences for prenatal diagnosis in this family.

Adult↗
PubMed1985

The natural history of homocystinuria due to cystathionine beta-synthase deficiency.

An international questionnaire survey has been conducted to define better the natural history of homocystinuria due to cystathionine beta-synthase deficiency and permit evaluation of treatment. Data were compiled for 629 patients. Among patients not discovered by newborn screening, B6-responsive individuals on the average have significantly better mental capabilities (mean IQ, 79) than do B6-nonresponsive individuals (mean IQ, 57). Time-to-event curves are presented for the other major clinical abnormalities produced by this disease. Each occurred at significantly lower rates in untreated B6-responsive than in untreated B6-nonresponsive patients, as shown by the following examples: (1) dislocation of optic lenses (at age 10, chances of dislocation: 55% and 82%, respectively); (2) initial clinically detected thromboembolic events (at age 15, chances of having had such an event: 12% and 27%, respectively); (3) radiologic detection of spinal osteoporosis (at age 15, chances of such osteoporosis having been detected: 36% and 64%, respectively); and (4) mortality (at age 30, chances of not surviving: 4% and 23%, respectively). Methionine restriction initiated neonatally prevented mental retardation, retarded the rate of lens dislocation, and may have reduced the incidence of seizures. Pyridoxine treatment of late-detected B6-responsive patients retarded the rate of occurrence of initial thromboembolic events. Following 586 surgical procedures, 25 postoperative thromboembolic complications occurred, six of which were fatal. Reproductive histories were reported predominantly for B6-responsive patients. Living offspring of either men or women patients had few abnormalities. The evidence is inconclusive whether untreated maternal cystathionine beta-synthase deficiency leads to excessive fetal loss. Only 13% of patients detected in screening programs of newborns and classified as to B6-responsiveness were B6-responsive, compared to 47% among late-detected patients. Current screening programs that identify neonatal hypermethioninemia may be preferentially failing to detect B6-responsive patients.

Adolescent↗
PubMed1984

Unexplained bilateral occipital calcification and reduced vision.

An eight year-old girl, investigated because of convulsions, was found to have isolated bilateral presumably cortical and subcortical calcification, reduced visual acuity and prolonged visual evoked response latencies. There were no clinical manifestations of a phakomatosis.

Calcinosis↗
PubMed1984

[Bone changes in homocystinuria in childhood].

Homocystinuria due to cystathionine synthase deficiency is an autosomal recessive error of sulphur amino acid metabolism characterized clinically by lens dislocation, mental retardation, skeletal abnormalities and thromboembolic phenomena. We have evaluated roentgenologically our series of 12 pediatric homocystinuric patients to detect skeletal abnormalities. Bone changes are widespread and occur mainly in dorsolumbar spine and in epi-metaphyseal growth areas. Osteoporosis is the most important finding. Dolichostenomelia and arachnodactily are relatively common. Calcific spicules occur frequently in the wrist physes.

Adolescent↗
PubMed1983

Electroencephalographic abnormalities in homocystinuria due to cystathionine synthase deficiency.

Nineteen homocystinuric patients--13 children and 6 adults--were identified in the course of a selective screening for homocystinuria due to cystathionine synthase deficiency. Treatment with high doses (300-1200 mg/day) of pyridoxine was carried out in 17 patients, of whom 15 were completely responsive. In 10 patients EEG abnormalities were observed consisting mainly of a mild diffuse non specific slowing of background activity. In two sisters, with no history of seizures, focal paroxymal activity was also recorded. EEG recordings before and after B6 treatment were available in 16 patients, one of whom was a non responder, during treatment seven normal and six abnormal EEGs showed no change whereas three previously abnormal EEGs were classified as normal.

Adolescent↗
PubMed1983

Prolonged Q-T interval syndrome presenting as idiopathic epilepsy.

We report the case of a 4 1/2-year-old girl admitted to our Hospital because of repeated tonic convulsions. These attacks were triggered by noxious stimuli as well as by emotional stress. Since patient's history was not typical of idiopathic epilepsy, and several electroencephalograms failed to reveal any abnormality, a cardiac basis for the clinical picture was suspected. Resting electrocardiograms and 48-hour ECG recording showed a prolonged Q-T interval, usually responsible for severe cardiac arrhythmias (e.g., ventricular fibrillation or "torsades de pointe"). In our patient the neurologic paroxysmal symptomatology, wrongly considered as idiopathic epilepsy, should be interpreted being due to the underlying cardiac abnormality.

Arrhythmias, Cardiac↗
PubMed1983

Wildervanck's syndrome with bilateral subluxation of lens and facial paralysis.

A 15-year-old female was found to have the typical features of Wildervanck's syndrome, including Klippel-Feil anomaly, abducens paralysis, retraction of the bulbi, and deafness. In addition, she had bilateral lens subluxation and facial paralysis, neither of which have been reported in patients with Wildervanck's syndrome.

Abducens Nerve↗
PubMed1983

Severe cardiac anomalies in sibs with Larsen syndrome.

Larsen syndrome is characterised by congenital anterior dislocation of the knees, associated with other joint dislocations, and a characteristic facies. Autosomal recessive and dominant inheritance have been proposed. A brother and a sister with consanguineous parents, suggesting autosomal recessive inheritance, were found to have the typical features of Larsen syndrome. In addition, they had severe cardiac manifestations, never reported before in familial cases of the syndrome. We suggest that the recessive form is probably more severe than the dominant form because of the frequent presence of concomitant cardiac anomalies.

Abnormalities, Multiple↗
PubMed1982

Sanfilippo B syndrome (MPS III B): altered residual alpha-N-acetylglucosaminidase activity in an unusual sibship.

We studied the residual alpha-N-acetylglucosaminidase activity in two siblings with severe and mild Sanfilippo B syndrome. No striking differences were demonstrated between the mutant enzymes from the severe and the mild case. However we found an altered enzyme activity characterized by displacement of the pH optimum towards basic values compared to the pH optimum of the normal enzyme, higher stability to heat and to Hg2+ ion treatment. It is suggested that the Sanfilippo B disease in this sibship is due to a mutation of a structural gene coding for alpha-N-acetylglucosaminidase.

Acetylglucosaminidase↗
PubMed1981

Intermediate golgi alpha-D-mannosidosis and mucolipidosis II and III.

We have examined extracts of fibroblasts from patients with mannosidosis, mucolipidosis (ML) II, ML III, and normal controls for alpha-D-mannosidase activity against 4-methylumbelliferyl-alpha-D-mannopyranoside to test for the presence of the "intermediate" pH 5.5 enzyme activity that has been called the "Golgi mannosidase." Fibroblast extracts were prepared by sonication and sedimented to separate membrane-associated activities from cytosolic and lysosomal alpha-D-mannosidases. Membranes were extracted by salt washes (0.4 M NaCl) to desorb the lysosomal enzymes that sedimented with membranes. The alpha-D-mannosidase activity remaining with membranes showed many properties described for the Golgi mannosidase including: 1) an "intermediate" pH optimum (pH optimum (pH 5.5-6.0), 2) activity with the synthetic 4-methylumbelliferyl substrate, 3) lack of inhibitability by 200 mM methyl- alpha-D-mannopyranoside, and 4) partial resistance to solubilization by salt washing, and to a single extraction with the non-ionic detergent Triton X-100. This intermediate activity was the major alpha-D-mannosidase activity remaining in membranes from normal fibroblasts following sedimentation and salt washing, and was the major component of the alpha-D-mannosidase activity in extracts of fibroblasts from patients with mannosidosis, ML II, and ML III, in all of which, the lysosomal "acid" alpha-D-mannosidase was greatly reduced. The specific activity of intermediate alpha-D-mannosidase in membranes from fibroblasts from patients with mannosidosis, ML II, and ML III was not reduced compared to that of fibroblasts from controls. These studies provided no evidence to support the prior suggestion of a deficiency of "Golgi mannosidase" in ML II or ML III.

Fibroblasts↗