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Biomedical subjects

G J Myers

Publications and source records attributed to G J Myers.

At least 19 recordsLinked to original sources

Scapuloperoneal syndromes. Absence of linkage to the 4q35 FSHD locus.

OBJECTIVE: To investigate whether two forms of the scapuloperoneal syndrome result from genetic defects allelic to facioscapulohumeral dystrophy (FSHD). DESIGN: Two kindreds with scapuloperoneal syndromes underwent clinical, histologic, and electrophysiologic evaluation followed by genetic evaluation with probes closely linked to FSHD. RESULTS: Although the proband in each kindred had facial, scapular stabilizer, and humeral weakness, raising the possibility of FSHD, evaluation of multiple other affected family members showed patterns of involvement that were clinically distinct from typical FSHD. In addition, DNA studies showed no linkage to the 4q35 FSHD locus in either kindred. CONCLUSION: We conclude that these two forms of the scapuloperoneal syndrome are genetically distinct from FSHD.

Adolescent

Fetal methylmercury poisoning. Relationship between concentration in single strands of maternal hair and child effects.

Pregnant women consumed bread that was prepared from methylmercury-treated wheat. Single strands of maternal head hair were analyzed by x-ray fluorescence spectrometry. The index of fetal exposure was the maximum hair mercury concentration during gestation. Effects were measured by the frequency of psychomotor retardation, seizures, and neurological signs in the children. A dose-response relationship was demonstrated for fetal effects of methylmercury. Analysis of single hair strands provides a better index of acute or subacute fetal exposure than analysis of bundles of hair; the duration and degree of exposure are more accurately defined. A sex difference in response is discussed.

Developmental Disabilities

Early clinical manifestations and intellectual outcome in children with symptomatic congenital cytomegalovirus infection.

The Developmental Profile was completed on 32 prospectively followed children with symptomatic congenital cytomegalovirus infection (mean age 6 7/12 years; 78% white, 59% male). The distribution of intelligence and general developmental scores was bimodal; one group had severe deficits (mean IQ 28.8), the other had relatively less severe intellectual sequelae (mean IQ 91.6). Correlation analysis (Pearson r) showed that three variables--microcephaly, neurologic abnormalities, and chorioretinitis--when apparent during the first year of life, were all significantly associated with low intelligence. No correlation was found between IQ and severity of neonatal reticuloendothelial disease or hearing loss. Multiple regression analysis showed that age at testing, chorioretinitis, and neurologic sequelae accounted for 63% of the IQ variance in our sample. We conclude that children with symptomatic congenital cytomegalovirus infection have a greater range of intellectual outcomes than has been previously reported, and that certain early clinical manifestations may be useful in anticipating special needs.

Child

Myelomeningocele: the medical aspects.

Recent advances in treatment and care for children with myelomeningocele offer new hope for both survival and success. Achieving these goals requires careful attention to both technical areas and to the basics of health care and human interactions. The latter area is one for which the primary care physician should be ideally suited. Although specialty care by neurosurgeons, orthopedists, and urologists is necessary, none of these specialists offer the broad scope and understanding of the child and the family that the primary care physician should be able to provide. Managing a child with this disorder is challenging, can be satisfying, and appears to be cost effective. The goals, however, must be clearly visualized and accepted, and the value of health maintenance and care rather than cure must be recognized.

Child

Correlates of intelligence and adaptive behaviour in Down's syndrome.

Intelligence and adaptive behaviour scores of Down's syndrome children were compared with parental educational level, socio-economic indicators, and parental age at birth of the child. IQ and adaptive behaviour scores were positively correlated with parental education and socio-economic indicators. Adaptive behaviour scores of children born to older parents were significantly lower than scores of children born to younger parents.

Adolescent

ACTH and prednisone in childhood seizure disorders.

We treated 116 children with ACTH or prednisone. Fifty-two had infantile spasms with hypsarhythmia, and 64 had other types of intractable seizures. ACTH completely controlled seizures in all patients with infantile spasms and hypsarhythmia and 74% of those with other types of seizures. Prednisone controlled 51% of patients with infantile spasms and none with other seizures. Serious side effects were minimal for both drugs, and recurrent seizures occurred in 40 to 50% of patients within 4 to 14 months after completion of therapy.

Adrenocorticotropic Hormone

Dose-response relationship for human fetal exposure to methylmercury.

Eighty-four Iraqi mothers and their infants had been exposed to methylmercury during pregnancy. The methylmercury had been ingested as a fungicide. Peak maternal hair mercury concentrations were related to the frequency of maternal symptoms during pregnancy and to neurological effects in the infants. These include various degrees of psychomotor retardation. Severe neurological deficits were observed in five children whose maternal peak hair mercury concentrations were 165 to 320 ppm. Minimal symptoms were reported for mothers and children when peak maternal hair levels were below 68 ppm. Minimal clinical neurological signs occurred in children when peak maternal hair mercury concentrations were at an undetermined point between 68 and 180 ppm. Greater fetal risk appears to be associated with exposure during the second trimester. This exposure to methylmercury was acute and the results may not be extrapolated to a constant level of exposure throughout pregnancy. The effects of fetal exposure to methylmercury in marine fish may differ.

Dose-Response Relationship, Drug

Fetal methylmercury poisoning: clinical and toxicological data on 29 cases.

This report describes psychomotor retardation in infants caused by prenatal exposure to methylmercury. A study of 29 mother-infant pairs established a relationship between maximum maternal hair mercury concentration during pregnancy and the frequency of neurological effects in the infants. The latter included delayed achievement of developmental milestones with or without neurological signs. The infants were 4 1/2 to 5 years of age on last examination. Ten infants of mothers who had maximum hair concentrations in the range of 99 to 384 pars per million (ppm) had a significantly higher frequency of abnormal findings than those in two groups having lower maternal hair mercury concentrations (12 to 85 and 0 to 11 ppm). The group sizes were too small to allow identification of a specific "threshold" maternal hair concentration above which such effects can be expected. Transient paresthesias during pregnancy occurred in 80% of the mothers in the higher concentration group (99 to 384 ppm) as compared with 30% and 22% in the lower groups. Neurological abnormalities were found in some children whose mothers had been asymptomatic during pregnancy.

Abnormalities, Drug-Induced

Outcome of symptomatic congenital cytomegalovirus infection: results of long-term longitudinal follow-up.

Thirty-four patients with congenital cytomegalovirus infection who were symptomatic as newborns were followed in a special clinic providing periodic medical and visual examinations as well as psychometric testing and audiometry. All patients had symptoms of congenital infection by 2 weeks of age, and 31 of 34 had virus isolated from urine within the first month of life. Age at latest follow-up varied from 9 months to 14 years with a mean of about 4 years. Ten patients died and 23 surviving patients had adequate follow-up examinations; all but two had evidence of central nervous system or auditory handicaps. Microcephaly was present in 16 (70%), mental retardation in 14 (61%), hearing loss in seven (30%), neuromuscular disorders in eight (35%), and chorioretinitis or optic atrophy in five (22%). Children with symptomatic congenital cytomegalovirus infection are at very high risk for handicaps that will significantly impair development.

Adolescent

Emotional complications of adolescent grand mal epilepsy.

Adolescents who have grand mal epilepsy and their parents were interviewed, and the adolescents were evaluated neurologically. Better seizure control and less neurologic disability were unexpectedly associated with less open communication between the adolescents and their families and friends, and with a poorer self-image and poorer expectations for the future. These findings were unrelated to IQ or school performance. This outcome is consistent with other studies of invisible defects and stigmatization, and suggests that youngsters who have relatively mild defects involving social disability may be more troubled than those with more apparent defects, for which denial may be operative. An incidental finding in the study was that a question more predictive of overall family, social, and academic function than the neurologic findings was simply whether or not the youngster was attending the appropriate grade in school for his or her age.

Adolescent

Candida meningitis in the newborn.

The incidence of Candida meningitis in the neonatal period is increasing, and 63% of reported patients have either died or are mentally retarded. We report a newborn with Candida meningitis and arthritis who did well after treatment with intravenous and intrathecal amphotericin B, along with oral flucytosine.

Administration, Oral

Lightning-strike disaster among children.

A lightning strike involving 47 children is described. Four cases demonstrate the most common and serious resulting pathology: burns, myocardial infarction, and neurological symptoms varying from feelings of fear and nightmares to brain death. The pathophysiology of lightning injury is described. The importance of immediate resuscitation of the victim who appears dead after a lightning strike is emphasized, and procedures to prevent lighting injury are presented.

Adolescent