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Biomedical subjects

M Jaffe

Publications and source records attributed to M Jaffe.

At least 91 records · Page 5Linked to original sources
PubMed1987

The dilemma in prenatal diagnosis of idiopathic microcephaly.

It is estimated that 20 to 35 per cent of idiopathic microcephaly is hereditary. Common practice dictates that after the birth of such a case, subsequent pregnancies should be monitored ultrasonographically in order to facilitate early antenatal diagnosis, and thus genetic counselling. Two cases are reported to indicate the difficulties encountered. In case 1 head growth appeared to be normal until the 20th week of gestation and then slowed down to 31 cm at birth. In case 2 head growth proceeded normally until the 28th week of gestation; at birth it was 32 cm and over the succeeding months became markedly microcephalic. The accuracy of various ultrasonographic techniques is reviewed, and the limitations are discussed. In the light of these findings it is concluded that reliable prenatal diagnosis of hereditary microcephaly is not available as yet.

Cephalometry↗
PubMed1987

Post-obstructive urinary concentrating defect. A case study in the role of prostaglandins.

A child with post-obstructive urinary concentrating defect was studied for the possible pathophysiological role of prostaglandins and an eventual therapeutic approach. Increased urinary excretion of prostaglandins was corrected by indomethacin, with resultant increased nephrogenous cyclic AMP and partial improvement in the concentrating defect. The addition of a thiazide restored urinary concentration. These results add clinical support to the conception of the important role of prostaglandins in the mechanism of post-obstructive hyposthenuria. This therapeutic regimen is advocated for prolonged post-obstructive concentrating defect.

Child, Preschool↗
PubMed1987

Muscle carnitine deficiency presenting as familial fatal cardiomyopathy.

Three siblings presented with fatal cardiomyopathy confirmed by electron microscopy, and normal serum but low muscle carnitine concentrations. A fourth had similar signs but remained asymptomatic. He was treated with carnitine orally which increased the concentration in muscle, though it remained below normal. Electron microscopic features were unchanged.

Cardiomyopathies↗
PubMed1986

Immature sound localisation and abnormal development.

This investigation tested the hypothesis that high risk infants showing immaturity in localisation of a sound stimulus would be more likely to have appreciable neurodevelopmental dysfunction. The cohort comprised 112 infants, 66 of whom were classified as 'high risk'. Every infant underwent a neurological and developmental assessment, a sound localisation response test, and an audiological examination when necessary. The first examination was performed at age 8-9 months and was repeated between six and eight months later. It was found that if the sound localisation response was mature at the first examination normal development could be anticipated at the second examination. If an immature sound localisation response was shown then considerable dysfunction could be anticipated in about half of the infants. It is suggested that special attention be paid to the maturity of the sound localisation response in infants during auditory screening procedures, and an immature response should alert the examiner to the possibility of appreciable abnormality in development.

Auditory Perception↗
PubMed1985

Motor function in the normal aging population: treatment with levodopa.

In normal elderly humans there is progressive motor dysfunction and loss of nigrostriatal neurons and brain dopamine similar to, although of a milder degree than, that seen in Parkinson's disease. Ten healthy elderly volunteers were given carbidopa/levodopa or placebo in a double-blind crossover study. We measured movement velocity, reaction time, tremor, visual evoked response (VER), and electroretinography (ERG). Significant changes were seen only in ERG. Motor functions and VER were unchanged. Although there appeared to be pharmacologic activity (ie, changes in ERG), levodopa, in adequate antiparkinson dosage, had no impact on the mild extrapyramidal impairment of normal elderly subjects.

Aged↗
PubMed1985

Prevalence of gestational and perinatal insults in brain-damaged children.

The value of utilizing the analysis of unusual dermatoglyphic patterns and of microscopic dental enamel abnormalities as nonspecific registers of fetal and perinatal insult was investigated in brain-damaged children. Positive findings were demonstrated in 82% of the brain-damaged group and in 17% of healthy controls (P less than 0.001). This confirms that most brain damage in children occurs during pregnancy. The limited correlation between recorded potential damaging events during pregnancy and the appropriate markers of fetal/perinatal insult suggests that the data available are inadequate for identifying the causes of brain damage. The implications of these observations are discussed with regard to determining the etiology of brain damage.

Brain Damage, Chronic↗
PubMed1984

Relationship of CSF shunting and IQ in children with myelomeningocele: a retrospective analysis.

This paper reviews 75 infants with myelomeningocele treated either at birth or from an early age at Rainbow Babies and Children's Hospital, for whom complete records and psychometric testing (IQ) are available (including complete summaries from referring hospitals). Three groups are compared: (1) infants without complications who were shunted for hydrocephalus (n = 41); (2) infants with complications who were shunted (n = 16), and (3) infants who were not shunted (n = 18). Complications were defined as ventriculitis (positive CSF cultures with elevated protein, depressed glucose and inflammatory cells), anoxia, poorly controlled hydrocephalus or other CNS anomalies such as porencephaly. The mean IQ of infants who were not shunted was 104, of those shunted without complications it was 91, and of those shunted who had complications it was 70. These IQ differences were significant at p less than 0.01, and were not explained by differences in spinal lesion levels.

Arnold-Chiari Malformation↗
PubMed1984

Diagnostic approach to the etiology of mental retardation.

The clinical and laboratory investigation of the etiology of mental retardation is discussed. By clinically determining the stage of onset of the mental retardation, it is possible to dispense with a large number of special investigations. It is concluded that the laboratory is chiefly of value in confirming clinical suspicions, and that only rarely will random or routine testing yield an unexpected diagnosis. The possible exception is dermatoglyphic analysis in nondysmorphic, idiopathically retarded patients. This examination demonstrated probable antenatal causative factors in a high percentage of children with retardation of intrauterine origin. If further investigation were to confirm the findings, then this simple examination should be included in the routine evaluation of these cases.

Child, Preschool↗
PubMed1983

Dermatoglyphic and palmar-crease alterations as indicators of early intra-uterine insult in mental retardation.

A comparative study of unusual dermatoglyphic and palmar patterns revealed significant differences between the frequencies of certain patterns among 200 congenitally affected mentally retarded children and 500 normal controls. A scoring method demonstrating the significance of eight unusual patterns as non-specific indicators of early intra-uterine fetal insult was devised. 10 per cent of the children previously classified as idiopathically mentally retarded were shown to have been exposed to early intra-uterine insult. Dermatoglyphic and palmar-crease analysis should be included as a routine investigation for children with mental retardation of unknown cause.

Abnormalities, Multiple↗
PubMed1983

A pediatric approach to visual handicap.

When dealing with a visually handicapped child, the pediatrician's responsibility is considerable. He or she plays a key role in establishing the pathologic diagnosis and in coordinating the subsequent medical therapy and genetic counseling if required. These responsibilities also include providing emotional support to the family, and advice regarding the various medical, developmental, and educational decisions that the family will face in the future. Basic knowledge regarding the effects of visual deprivation on the development of the child, and the use of appropriate compensatory stimuli utilizing the other sensory modalities, will be of great value as the pediatrician accompanies the patient through the trials that await him or her and the family.

Child, Preschool↗
PubMed1982

The motor development of fat babies.

The motor development of a group of fat babies was compared with that of a group of normal weight babies. A significant correlation was found between excessive weight and gross motor delay. Over the ensuing year, both weight and development reverted to normal in the majority of infants. The possible relationship between observations is discussed, and a plea is made that a comprehensive evaluation of the motor-delayed overweight infant be performed before concluding that the delay is due solely to the excessive weight.

Developmental Disabilities↗
PubMed1982

Hospital admissions following childhood accidents.

This study comprises 260 children aged less than or equal to 13 yr hospitalized following accidents during a 9-mo period for a total of 923 hospital days. The ratio of boys to girls was 1.8:1. There were 21 road accidents and 104 accidents in the home; 75.4% of the accidents took place after school hours. Half of the admissions were for head trauma; 96 injuries were serious; and 78 patients required general anesthesia. In 67 families, there had been at least one previous childhood accident requiring hospitalization of the cohort child or sibling; factors in this group may have been the child's temperament or tension in the home.

Accidents, Home↗