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M R Seashore

Publications and source records attributed to M R Seashore.

43 records · Page 3Linked to original sources
PubMedDate not supplied

Hyperammonemia during total parenteral nutrition in children.

Serial blood ammonia (NH3) determinations in 19 low birth weight (LBW) infants, 14 term neonates and 12 children receiving total parenteral nutrition (TPN) have shown that 73% of patients had one or more elevated NH3 values (greater than 150 micrograms/dl). The mean blood NH3 was 220 +/- 13 micrograms/dl in LBW infants, 180 +/- 9 micrograms/dl in 10 infants, and 140 +/- 7 micrograms/dl in children. All of these values are significantly higher than normal (p less than 0.001). There was no difference in incidence or mean blood ammonia concentration between patients receiving casein hydrolysate and those receiving a crystalline amino acid solution. Only four patients were symptomatic and several infants remained fully alert despite blood NH3 concentration in excess of 400 micrograms/dl. One infant who had sustained hyperammonemia was given another amino acid source (Travasol) containing 1.2 mmol/dl of arginine; blood NH3 promptly fell to the normal range. However, six of seven additional infants had hyperammonemia while receiving Travasol (mean = 184 micrograms/dl). Hyperammonemia is common during TPN in children, often is not recognized clinically, and occurs with equal frequency in infants and older children. The high levels observed in LBW infants may be due to hepatic immaturity. Blood NH3 concentration should be monitored frequently during TPN. Persistent hyperammonemia should be treated by decreasing protein content of the infusate. The role of supplemental arginine is unclear.

Adolescent↗
PubMedDate not supplied

Introduction: new technologies for genetic and newborn screening.

Screening newborn infants for inherited disorders has been effective in preventing mental retardation, growth failure, and death from several metabolic disorders for more than two decades. Technical advances have provided more screening tools for both genetic and nongenetic conditions, and in the coming decades these techniques will be used not only to screen newborns but to assess genetic risks in entire populations. The financial, legal, and ethical issues which these activities raise must influence the development of public policies in order to reap the benefits promised. The conference published here was designed to address these issues for health care practitioners, health policy planners, and public health professionals.

Female↗
PubMedDate not supplied

Idiopathic Fanconi syndrome with progressive renal failure: a case report and discussion.

Fanconi syndrome is a complex of renal tubular dysfunctions defined by glycosuria without diabetes, aminoaciduria, phosphaturia, and renal tubular acidosis. It is often associated with hypokalemia, hypophosphatemia, and rickets or osteomalacia. Although it is usually found in the setting of other well-established non-renal diseases, Fanconi syndrome may present without identifiable etiology or association. Very infrequently a patient with idiopathic Fanconi syndrome will progress to chronic renal failure. This case report details the course of such a patient over the 20 years since his diagnosis and discusses the syndrome's genetic background, clinical features, putative pathophysiology, and therapeutic options, including transplantation.

Adult↗
PubMedDate not supplied

Knowledge and attitudes toward Tay-Sachs disease among a college student population.

To assess the feasibility of screening the single Jewish population for Tay-Sachs disease (TSD), a questionnaire examining the knowledge of and attitudes toward TSD and genetic screening was sent to 348 Yale University Jewish undergraduates. Of those students responding (63 percent), 78 percent were able to answer general genetic questions correctly while only 1.9 percent could answer specific Tay-Sachs questions correctly. A majority of the students (93.9 percent) indicated some concern about being a carrier for TSD, believed that carrier status would affect future social and reproductive behavior, and expressed an interest in having TS carrier status determined while still single (77.4 percent). Strong correlations were found between knowledge and attitudes, but no significant differences appeared between male and female respondents. In addition to leading to improvements in Tay-Sachs screening programs, the observations have led to suggestions that may be generalized to other genetic screening programs.

Adult↗