Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0728731 (prematurity)
 7,134 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Early identification and prevention of mental retardation helps in terms of treatment for some conditions, better planning and management of cases, and counseling. Diagnostic procedures are available during pregnancy for early detection: blood tests, amniocentesis, ultrasound, fetoscopy, and urine tests; tests available for the newborn are blood tests for hypothyroidism, PKU; urine tests for metabolic disorders; apgar scores for screening of neurological deficits; neurobehavioral assessments, developmental schedules; neurodevelopmental screening; sensory examination; speech and language assessments; EEG; and imaging techniques. Early identification of mental retardation is beneficial in aiding the child's development and personality and in helping parents adjust mentally and learning to cope with caring for the child. Sometimes, it can help to limit the number and extent of the handicap. Prevention can be primary, secondary, or tertiary. The emphasis is on planned pregnancies, regular prenatal care, regular health checkups for mother and child, immunization, nutrition, prevention of environmental hazards and accidents, early identification and screening, genetic studies and counseling, family planning, and creation of awareness among the general population. Inadequate prenatal care is associated with prematurity and low birth weight, which are linked to mental retardation. Prenatal care for the pregnant woman involves participating in regular prenatal checkups, maintaining good nutrition, having preliminary screening, attending promptly to illnesses and infections, and getting immunized at the appropriate time. Avoidance of the following is recommended: unnecessary and nonprescribed drugs, physical accidents, exposure to radiation and teratogens, alcohol and tobacco consumption, exposure to infections such as measles, rubella, or syphilis, toxins and poisons such as lead, and attempts at abortion. Genetic counseling can provide information on the disorders, the mode of inheritance, risks of recurrence, and options available as alternatives. Complicated pregnancies and labors require hospital delivery. Trained personnel at home or at a health center is appropriate for normal deliveries. High-risk infants need intensive care. The best age for mothers to bear children is between 20 and 30 years. The community can disseminate information as a prevention effort.
 ...
PMID:Early identification and prevention of mental retardation. 1234 90

Providing adequate amounts of protein in preterm infants suffering from a metabolic disease that requires a reduced intake of natural protein is challenging. Phenylketonuria (PKU) is an inborn error of metabolism affecting the enzymatic conversion of phenylalanine to tyrosine. The dietary treatment of PKU aims to lower phenylalanine concentrations in the blood by implementing a low-phenylalanine diet restrictive in natural protein. We describe the nutritional management of three preterm infants, two with very low birth weight, with PKU detected by newborn screening. All three infants tolerated high amounts of phenylalanine; two were breastfed unrestrictedly during late prematurity. We show that nutrition of preterm infants with PKU according to recommendations of early and intensive nutrition with a high intake of protein is feasible even in infants with impaired enteral feeding. Due to a high phenylalanine tolerance of PKU infants during prematurity, there is no need for a phenylalanine-free parenteral amino acid mixture. During the catabolic state of prematurity preterm infants with PKU have phenylalanine requirements comparable to healthy preterm infants.
 ...
PMID:Management of three preterm infants with phenylketonuria. 3186 70