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Biomedical subjects

C Sansaricq

Publications and source records attributed to C Sansaricq.

34 records · Page 2Linked to original sources
PubMed1987

Successful long term therapy of biopterin deficiency.

A hyperphenylalaninaemic infant, started on dietary therapy at 14 days of age, had severe developmental retardation and neurological abnormalities despite excellent biochemical control. A diagnosis of a deficit in biopterin synthesis was made at five months of age as a result of the following: high neopterin and low biopterin levels in both blood and urine, normal dihydropteridine reductase in the liver and a sharp drop in the plasma phenylalanine level 4 h after the administration of a test dose of tetrahydrobiopterin. Treatment with levodopa, carbidopa and 5-hydroxytryptophan resulted in prompt neurological improvement. This was followed by gradual and sustained development. At present, at the age of 7 years, the child is mentally and physically normal.

5-Hydroxytryptophan↗
PubMed1984

Familial congenital short small bowel with associated defects. A long-term survival.

In 1974, Royer et al. described a familial syndrome consisting of a short and sluggish small bowel, malrotation of the gut, and pyloric stenosis. These authors stressed the uniformly fatal outcome of their four cases, as well as other possibly unrecognized cases previously described in the literature. The present report deals with two more familial cases, of which one represents a long-term survivor of the syndrome. The intensive work of maintaining nutrition, controlling infection, and managing the complications of associated defects are described.

Abnormalities, Multiple↗
PubMed1984

The relationship between the branched chain amino acids and their alpha-ketoacids in maple syrup urine disease.

Plasma branched chain amino acid levels and their respective ketoacid analogues were determined in seven maple syrup urine disease patients ranging in age from 12 h to 12 years. One hundred one pairs were analyzed. There was a high degree of correlation between the amino acid and its ketoacid analogue at every amino acid level. The coefficient of correlation (0.84) was highest for leucine-alpha-ketoisocaproic acid. The ratio of ketoacid analogue to amino acid, (0.87), was also the greatest for leucine. The close correlation implies that adequate monitoring for therapy can be accomplished by the use of the technically simpler and more rapid determination of the plasma branched chain amino acids.

Amino Acids, Branched-Chain↗
PubMed1982

Disseminated ulcerations in allergic eosinophilic gastroenterocolitis.

An infant with allergic eosinophilic gastroenterocolitis is described. The patient presented with vomiting, diarrhea, gastrointestinal bleeding, and failure to thrive. Anemia, hypoproteinemia, and peripheral eosinophilia were also present. Gastrointestinal endoscopy revealed multiple mucosal ulcerations in the stomach, small intestine, and colon. Histological study of the affected areas showed infiltration of the mucosa by eosinophils, increased mucosal IgE plasma cells, and activated intraepithelial lymphocytes. Treatment with corticosteroids resulted in clinical and histological remission.

Child, Preschool↗
PubMed1981

Plasma and cerebrospinal fluid amino acid concentrations in phenylketonuria during the newborn period.

Plasma and cerebrospinal fluid amino acid values were determined in 29 infants 9 to 30 days of age with a confirmed diagnosis of phenylketonuria. Phenylalanine concentrations in plasma and cerebrospinal fluid were markedly elevated; the degree of elevation in the cerebrospinal fluid had a significant relationship to that of the plasma. The only other significant deviations in the plasma were reductions in the threonine and tyrosine values. Cerebrospinal fluid threonine, alanine, and arginine concentrations were reduced, whereas those of serine, isoleucine, and histidine were elevated. This combined deficiency and excess of amino acids in the central nervous system may have a significant effect on protein synthesis at a time in life when this synthesis and turnover is most active.

Amino Acids↗
PubMed1981

An immunodeficient child with inflammatory bowel disease: involvement of cyclic nucleotides and effects of lithium.

A 3-year-old male with inflammatory bowel disease and hypogammaglobulinemia was found to have decreased T lymphocyte function. His serum was shown to depress normal T cell proliferative responses to phytohemagglutinin. Incorporation of lithium chloride to in vitro cultures enhanced autologous lymphocyte responses to phytohemagglutinin. Since lithium acts by inhibiting cAMP production, the child's lymphocytes were postulated to have increased levels of cAMP. Both lymphocytes and serum were shown to contain elevated levels of cAMP. In vivo therapy with lithium citrate was initiated and enhanced T cell numbers and function were observed concomitantly. Serum cAMP was also reduced to normal levels. The patient showed initially marked clinical improvement as assessed by mood, weight gain, and diminution of diarrhea. This clinical improvement was unfortunately not sustained despite the continued improvement in immune parameters and cAMP levels.

Agammaglobulinemia↗
PubMed1979

The nutritional therapy of histidinemia.

Control of the plasma histidine level in histidinemia is possible with the use of an amino acid mixture free of histidine and a carefully monitored intake of histidine. This regimen is compatible with good physical growth and normal mental development. If further clinical experience demonstrates that widespread nutritional intervention in this disease is warranted, it should be possible to obtain good biochemical control.

Adolescent↗
PubMed1977

Argininemia.

The clinical features of argininemia in two cousins included hyperactivity, spasticity, ataxia, retardation, and repeated attacks of hyperammonemia. Study of a large kindred suggests that arginase-deficiency is transmitted as a Mendelian recessive. Treatment with an essential amino acid mixture with the total nitrogen intake limited to the requirement, controlled the hyperammonemia, reduced the plasma arginine level, and permitted a marked clinical improvement. There has been a significant increase in intelligence levels; the previously retarded children are now approaching the normal range of function.

Amino Acid Metabolism, Inborn Errors↗
PubMed1975

Cystine deficiency during dietotherapy of homocystinemia.

Cystine deficiency was inadvertently produced in a boy receiving specific dietary therapy for homocystinuria. This was manifested as a loss in weight, the reappearance of significant amounts of homocystine in the plasma and urine, and the elevation of the plasma methionine level. In addition, there was a significant reduction in the level of cystine in the plasma. This reduction in plasma cystine level differentiates cystine deficiency from loss of biochemical control due to failure to keep the prescribed diet. The addition of cystine to the regime of this child, without any other dietary modification, resulted in a complete remission.

Body Weight↗
PubMed1975

The therapy of hyperammonemia due to ornithine transcarbamylase defiency in a male neonate.

Ornithine transcarbamylase deficiency in the male neonate has been considered to be invariably fatal because of the severity of the hyperammonemia. An extreme degree of hyperammonemia in a male neonate was brought under control by a series of exchange transfusions, prolonged peritoneal dialysis, adequate caloric intake, and a mixture of essential amino acids with an excess of aspartic acid and arginine. After the initial phase, it was possible to maintain the plasma ammonia level with dietary therapy alone, in spite of a number of complications that might be expected to cause tissue damage and increase the hyperammonemia.

Amino Acids↗