Biomedical subjects
R O Fisch
Publications and source records attributed to R O Fisch.
Bony changes of PKU neonates unrelated to phenylalanine levels.
In 1962 bone abnormalities were described radiographically in phenylketonuria patients. Later, observations were made on PKU infants during the neonatal period, which allowed differentiation between inherited alterations in bone development from those changes due to dietary restriction. Similar changes have been described in other aminoacidurias. Wrist radiographs and serum phenylalanine levels were obtained on 73 patients first seen between 1965 and 1990. All radiographs were taken on the day of referral, when the patient was between 6 and 57 days old. Forty-nine patients were less than 28 days old. Bone abnormalities were present in 56 of 73 (77%) of the children, as compared to 0 of 16 in a control group. The presence or absence of bone abnormality is unrelated to serum phenylalanine level, and to the age of the children at referral. This finding suggests that the cause of these mesodermal changes is not a deviation of a single amino acid in the infant, but that they are caused by an intrauterine amino acid imbalance.
Children of fathers with phenylketonuria: an international survey.
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Children with phenylketonuria: the interface of family and child functioning.
Functioning and coping of 43 families with children with phenylketonuria (PKU) was investigated. A significant positive correlation was found among perceived family cohesion, dietary adherence associated with metabolic control, and child IQ. Parental education also significantly related to dietary adherence and to higher IQ level in the child. In addition, paternal perception of family adaptability was related to the child's IQ. Child depression as perceived by the parents was related to family functioning and coping variables. Functioning of PKU families is discussed in relation to current theories of family functioning under stress.
Phenylketonuria screening tests for American children born outside the United States.
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Sustaining life through art and medicine.
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These words are their flowers: 'they were killed by hatred--their memory is kept alive in love'.
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Reflections.
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Outcome of untreated vs treated PKU pregnancies.
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Psychiatric diagnosis and behavioral characteristics of phenylketonuric children.
This study evaluated the psychiatric characteristics and the behavioral effects of an acute load of phenylalanine on phenylketonuric children. The sample consisted of 13 normal-IQ children who were identified at birth as having phenylketonuria and were subsequently treated with a strict low phenylalanine diet. After baseline measurements, the subjects were loaded with placebo or phenylalanine following a double-blind design. Behavioral and metabolic variables were monitored at hourly intervals for five subsequent hours. The effects of acute loading were measured by changes in a standardized Continuous Performance Task (CPT). Psychiatric symptoms were compiled through a structured psychiatric interview of the child and the parent. Results demonstrated that phenylalanine loading, compared to placebo, caused a nonsignificant decrement in performance on CPT testing. Psychiatric disorders were found in six of the 13 subjects with three currently meeting criteria for attention deficit disorder (ADD). In addition, six other subjects were diagnosed in the past as having ADD using DSM-III criteria.
Maternal phenylketonuria-chronology of the detrimental effects on embryogenesis and fetal development: pathological report, survey, clinical application.
Maternal phenylketonuria (PKU) is likely to have detrimental effects on embryogenesis and fetal development. Manifestations in the offspring include spontaneous abortion, various congenital malformations, intrauterine growth retardation, and microcephaly. The time at which the metabolic abnormalities induce pathologic embryogenesis can be documented by knowing the time of the development of specifically damaged organ systems. This review reveals that, while the most recognized congenital malformations occur in the heart, the most common abnormality is growth inhibition occurring throughout pregnancy. The organ system most commonly affected by this growth inhibition is the brain, resulting in a high incidence of micrencephaly. It appears that maternal phenylketonuria interferes with appropriate fetal growth and that this effect occurs during the entire course of pregnancy and has no tissue specificity. This information can be both informative to pathologists and useful to clinicians.
Neonatal serum bilirubin levels related to cognitive development at ages 4 through 7 years.
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An adult phenylketonuric with schizophrenia. Clinical and biochemical similarities and possible genetic connection between the two diseases.
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Homotransplantation of the liver in a patient with hepatoma and hereditary tyrosinemia.
A girl with hereditary tyrosinemia, diagnosed at 6 months of age, was treated with a diet restricted in phenylalanine and tyrosine. At 9 1/2 years of age she developed an acutely enlarged liver and spleen, and the diagnosis of hepatocarcinoma was made. The patient received a liver transplant and tyrosine metabolites became normal while she was receiving a regular diet. Three months later, an infected thrombosis of the portal vein caused her death. Liver transplant appears to be an effective method of enzyme replacement in tyrosinemia and should be considered for prevention of hepatoma.
Contact with phenylketonurics and their families beyond pediatric age: conclusion from a survey and conference.
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Arthrogryposis and infantile hypercalcemia syndrome in siblings.
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Children with superior intelligence at 7 years of age: a prospective study of the influence of perinatal, medical, and socioeconomic factors.
Perinatal and medical information, growth, and the social background of 258 children who, in a prospective study, had superior intelligence at 7 years of age were reviewed. The subjects were divided into three categories on the basis of the results of psychological evaluation at age 7. Comparisons were made between those with superior (intelligence quotient greater than or equal to 120), average (IQ between 80 and 119), and low intelligence (IQ less than or equal to 79). A favorable parental social and educational background was the best correlate of superior intelligence in the children. Larger head size from 1 year of age was an early finding associated with superior intelligence. Greater height and weight, from 4 years of age were later findings. Correlations between psychological performance at ages 4 and 7 years were statistically significant. Perinatal factors and medical complications did not affect the intellectual status of children with superior intelligence.
Growth, behavioral, and psychologic measurements of adopted children: the influences of genetic and socioeconomic factors in a prospective study.
Perinatal, growth, social, and psychologic data, collected through seven years of age on 144 adopted children and on 288 matched controls as part of a prospective study of 3,120 children, were subjected to statistical analysis. Only single births and healthy children were included. The adopted subjects were divided into two groups: 94 children who were adopted by nonrelatives (77 prior to one year of age and 17 after one year of age); and 50 children who remained with their biologic mothers and were subsequently adopted by stepfathers. Children who were adopted prior to one year of age had significantly higher IQs at four years of age then did their controls; at seven years of age, however, their IQs were similar even though the adopted children were raised in a higher socioeconomic environment. The adopted children had better academic achievement and were taller at four and seven years of age than were the controls. The performance of the children adopted after one year of age, even though they were raised in a higher socioeconomic environment, were, were like those of their controls at both four and seven years of age. The performance of the children who remained with their biologic mothers was similar to that of their controls. Maternal intelligence generally did not correlate well with adopted children's intelligence; however, a specific significant positive correlation could be shown between maternal intelligence and the intelligence of children who remained with their biologic mothers.