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Biomedical subjects

G Andria

Publications and source records attributed to G Andria.

At least 91 records · Page 5Linked to original sources
PubMed1990

Early signs of vascular disease in homocystinuria: a noninvasive study by ultrasound methods in eight families with cystathionine-beta-synthase deficiency.

Fourteen patients (six males, eight females; mean age, 20 years) with homocystinuria due to homozygous cystathionine-beta-synthase (CBS) deficiency, underwent a vascular examination. Fourteen heterozygotes (seven males, seven females; mean age, 46 years), including 12 parents and one daughter of homozygotes (obligate heterozygotes), and one sister of a homozygote (with low enzyme activity as evaluated in vitro), were also examined. Homozygotes and heterozygotes were compared with two separate control groups of different age (mean age, 20 and 43 years, respectively). Ankle/arm systolic pressure index (by continuous-wave Doppler) was, on average, lower in homozygotes (P less than .01) and heterozygotes (P less than .05) as compared with the controls. An ankle/arm index less than 0.97 and suggesting flow-reducing arterial lesions was found in six (21%) lower limbs of homozygotes versus zero in controls (P less than .05). Echo Doppler (Duplex Scanner) abnormalities, indicating early, non-flow-reducing lesions of iliac arteries were more frequent in homozygotes (seven wall abnormalities or stenoses less than 15%) than in young controls (P less than .05). The corresponding figures for heterozygotes were seven wall abnormalities or stenoses (1% to 15% and one stenosis 16% to 50%) (P less than .01 v middle-aged controls). Early lesions (three wall abnormalities or stenoses less than 15%, three stenoses 16% to 50%) were detected in six (23%) internal carotids of heterozygotes versus three (3%) of corresponding controls (P less than .05). Technical limitations precluded the accurate detection of early lesions in the internal carotid arteries of young homozygotes and controls.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1990

Endocavitary beta-interferon in neoplastic effusions.

Thirteen patients with malignant genital or mammary neoplasias, with endocavitary neoplastic effusion (pleural or ascitic), were examined in order to study the modifications of neoplastic effusion in endocavitary treatment (intrapleural or intraperitoneal) with Beta-Interferon. There was an overall objective response in 70% of the patients treated, with 53.8% complete responses and an average duration response of above 6 months. The best results were obtained in patients with ovarian cancer, with 75% of objective responses (50% CR), confirming the efficacy of Beta-Interferon particularly at peritoneal level, where there is higher concentration and exposure of the drug in the site of disease.

Adult↗
PubMed1990

The modifications of T-lymphocyte cell subpopulations in patients with beta-interferon intracavitary treatment.

18 patients with malignant genital or mammary neoplasia, treated with endocavitary Beta-Interferon (intrapleural or intraperitoneal), were examined in order to study the modifications of T-lymphocyte subpopulations (T3, T4, T8, T4/T8) in the peripheric blood. An improvement in the immune state in complessively 50% of the patients treated was observed, while there were no modifications in the remaining patients (in 3 patients with advanced ovarian cancer there was persistence of immunodepression preexisting to treatment). This indicates that endocavitary Beta-Interferon induced very poor immune response at peripheric level (contrary to what other Authors have described at peritoneal level), correlated to the dose used and to the extent of serous surface exposed to the drug.

Aged↗
PubMed1989

Studies on thiamine metabolism in thiamine-responsive megaloblastic anaemia.

We have investigated thiamine metabolism and transport in the erythrocytes of two patients from unrelated families with thiamine responsive megaloblastic anaemia associated with diabetes mellitus and sensorineural deafness. Both patients had low concentrations of thiamine compounds in plasma and red blood cells. When erythrocytes were incubated with thiazole-[2-14C]-thiamine or [35S]-thiamine in vitro, the concentration of label within the cells was markedly reduced compared with controls. In addition, thiamine pyrophosphokinase activity was deficient in haemolysates prepared from the patients. Some relatives of the patients showed abnormal parameters of thiamine status and transport. In both patients treatment with a lipophilic compound corrected the haematological abnormalities and diabetes and in one patient has so far prevented the progression of deafness. We propose that the disorder is caused by an inherited defect of thiamine transport, possibly related to deficient pyrophosphokinase activity, leading to intracellular depletion of active thiamine metabolite derivatives.

Anemia, Macrocytic↗
PubMed1989

Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome.

Mendelian inherited disorders due to deletions of adjacent genes on a chromosome have been described as "contiguous gene syndromes." Short stature, chondrodysplasia punctata, mental retardation, steroid sulfatase deficiency, and Kallmann syndrome have been found as isolated entities or associated in various combinations in 27 patients with interstitial and terminal deletions involving the distal short arm of the X chromosome. The use of cDNA and genomic probes from the Xp22-pter region allowed us to identify 12 different deletion intervals and to confirm, and further refine, the chromosomal assignment of X-linked recessive chondrodysplasia punctata and Kallmann syndrome genes. A putative pseudoautosomal gene affecting height and an X-linked non-specific mental retardation gene have been tentatively assigned to specific intervals. The deletion panel described is a useful tool for mapping new sequences and orienting chromosome walks in the region.

Chromosome Deletion↗
PubMed1988

X/Y translocation in a family with X-linked ichthyosis, chondrodysplasia punctata, and mental retardation: DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogene.

We describe a family with two male members showing an X/Y translocation (karyotype: 46,Y,der(X)t(X;Y)(p22;q11]. At physical examination both patients showed ichthyosis, mental retardation and dysmorphic features. Chondrodysplasia punctata and short stature were present in one case. Direct DNA analysis, using a steroid sulphatase cDNA probe, was performed in one patient, his mother and sister, both carriers of the translocation. We found that the translocated region of the Y chromosome includes the steroid sulphatase pseudogene. These results suggest that in our patients the X/Y translocation may be derived from a recombinational event between homologous regions located on the short arm of the X chromosome and the long arm of the Y chromosome. Clinical and molecular studies on the present family add further information for the construction of a tentative physical map of the distal Xp.

Child↗
PubMed1988

A simplified test to detect PKU heterozygotes by discriminant analysis in mentally retarded children and their mothers.

We have developed classification coefficients and an equation to detect heterozygotes for phenylketonuria. The combination of several variables (Phe, Phe/Tyr, Phe2/Tyr) gave a safe diagnosis in more than 96% of cases. We then computerized a random selection of our population, which was divided into two groups: the first was "selected" to compute discriminant functions, while the second, excluded from computation, was used to check the fitness of our method. Despite the reduction of sample size, 95.2% of unknown subjects were correctly classified. Finally, we used our equation to detect heterozygotes for phenylketonuria in a population of 26 children, affected by non-specific mental retardation, and their mothers. We found a high proportion of carriers for phenylketonuria, defined as subjects having a percent probability of correct classification higher than 90. By this method, heterozygosity was detected in two child-mother couples, four individual children and five mothers.

Adult↗
PubMed1988

Multisystem triglyceride storage disease is due to a specific defect in the degradation of endocellularly synthesized triglycerides.

We studied two unrelated patients with autosomal recessive multisystem triglyceride storage disease. Cultured fibroblasts accumulated 10 times more triglyceride than controls under glycerol or palmitate feeding. Mutant fibroblasts could not degrade accumulated triglycerides of endogenous origin, but normally degraded endogenously synthesized phospholipids. When the cells were fed with exogenous olein, triglyceride catabolism was in the normal range. Oxidation of long-chain, medium-chain, and short-chain fatty acids was normal, and the activities of acidic, neutral, and alkaline lipase in cell extracts were normal. The disease seems to be due to a specific impairment in the degradation of triglycerides synthesized endogenously.

Cells, Cultured↗
PubMed1987

Megalocornea and mental retardation syndrome: two new cases.

We report on 2 patients with the Neuhäuser megalocornea-mental retardation syndrome, a recessively inherited clinical entity of relatively recent description (McKusick 24931). A review of the few previous reported patients and our 2 patients shows that megalocornea and mental retardation are the 2 minimal diagnostic criteria. Short stature, seizures, neurological symptoms, microcephaly or macrocephaly, and minor anomalies are all additional nonobligatory manifestations. The small number of published cases may be due to the fact that the association of these two signs has often escaped attention until now.

Child↗
PubMed1987

Deletions of the steroid sulphatase gene in "classical" X-linked ichthyosis and in X-linked ichthyosis associated with Kallmann syndrome.

We have studied 16 men, from 10 unrelated Italian families, affected by steroid suphatase (STS) deficiency, which is the basic defect of X-linked ichthyosis (XLI). The patients' clinical diagnoses were of either isolated ichthyosis or ichthyosis associated with Kallmann syndrome (KS) (hypogonadotropic hypogonadism and anosmia). DNA from patients and their relatives was analysed by Southern blotting followed by hydridization with an STS cDNA probe. None of the patients affected by either XLI or XLI/KS showed any hybridization signal, thus revealing a deletion in the STS gene. We suggest that a gene deletion may be the most common molecular defect involved in XLI and that the syndrome XLI/KS may be due to a deletion of both the STS and the KS loci.

Chromosome Deletion↗
PubMed1987

Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis.

We have isolated several cDNA clones from a lambda gt11 expression library by screening with antibodies prepared against the microsomal enzyme steroid sulfatase, which is deficient in classical X-chromosome-linked ichthyosis patients. One of these clones (p422) has been assigned by mapping with a somatic cell hybrid panel and by in situ hybridization to Xp22.3. Clone p422 therefore has a coincident localization with the previously identified locus for steroid sulfatase expression in the region of the X chromosome escaping from inactivation. Twelve steroid sulfatase-deficient patients, including eight cases of classical ichthyosis, were found to be deleted for genomic sequences detected by the clone.

Chromosome Deletion↗
PubMed1986

X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome.

We report a large Italian pedigree in which five out of six males are affected by a syndrome, following an X-linked inheritance pattern, characterized by ichthyosis, hypogonadotropic hypogonadism, and anosmia. The concurrence of features of X-linked ichthyosis (XLI) with those of Kallmann syndrome, another disease often inherited as an X-linked trait, prompted us to perform biochemical, cytogenetic, and molecular studies in relation to the short arm of the X chromosome (Xp). Steroid sulphatase (STS) activity was found to be completely deficient in all affected members of the family. Prometaphase chromosome analyses of two obligate heterozygous women and one affected male showed normal karyotypes. Xg blood group antigen analysis and molecular studies employing cloned DNA sequences from the distal segment of the Xp (probes RC8, 782, dic56, and M1A), did not provide evidence for deletions or rearrangements of the X chromosome. The linkage analysis showed no crossovers between the disease, Xg, and DXS143, the locus defined by probe dic56, thus suggesting the possibility of a linkage between these two markers of the distal segment of Xp and the X-linked ichthyosis, hypogonadism, and anosmia syndrome.

Adolescent↗