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Biomedical subjects

M Jaffe

Publications and source records attributed to M Jaffe.

At least 37 records · Page 2Linked to original sources
PubMed1988

Relationship between head dimensions and body length in the context of mental retardation.

The relationship and possible disproportion between different cranial dimensions--head length, head circumference and biparietal diameter--body length and developmental status in normocephalic children were studied in 166 mentally retarded and 471 normal control subjects, between the ages of 3 months and 6 years. When the total cohort was analyzed, all dimensions, particularly head length, were found to be significantly reduced in the study group compared with the controls. Stratification into three age-groups revealed that in the 3- to 15-month-old subjects, head length was the most significantly reduced dimension, while in the older children body length was more significant, followed by head length. Further discriminant analysis resulted in a formula consisting of only three factors--body length, head length and age. Head circumference and biparietal diameter were noncontributory. This investigation did not support the concept of a disproportionately small head compared with height in normocephalic mentally retarded children, but rather a general growth failure mostly affecting height and head length.

Body Height↗
PubMed1987

The clinical significance of multiple hair whorls and their association with unusual dermatoglyphics and dysmorphic features in mentally retarded Israeli children.

The prevalence of multiple hair whorls in a group of mentally retarded patients was 8% as opposed to 3.6% in a group of healthy children. A statistically significant relationship was demonstrated between mental retardation, multiple hair whorls, more than two dysmorphic features, and unusual dermatoglyphics. The results confirm the importance of multiple hair whorls as a genuine dysmorphic feature. The significance of these markers in the evaluation of mentally retarded subjects is discussed, with special reference to the timing of the fetal insult.

Abnormalities, Multiple↗
PubMed1987

Recurrent episodes of testicular swelling preceding Henoch-Schönlein purpura by 11 months.

We report an unusual presentation of Henoch-Schönlein purpura in a 4-year-old boy. He presented with two isolated episodes of tender testicular swelling, and 11 months after the first episode developed a full blown picture of Henoch-Schönlein purpura accompanied by orchitis. A latent period of orchitis preceding Henoch-Schönlein purpura of this duration has not been described previously and its clinical implications are discussed.

Child, Preschool↗
PubMed1987

Long-term intracaval calcium infusion therapy in end-organ resistance to 1,25-dihydroxyvitamin D.

Two boys aged six and four with the syndrome of hereditary resistance to 1,25-dihydroxyvitamin D3 with rickets alopecia and growth retardation are presented. After unsuccessful therapeutic trials with pharmacologic doses of vitamin D or its active metabolites, the patients were treated by long-term intracaval infusions of calcium through an implantable catheter. A total of 0.5 to 0.9 g of elemental calcium was infused daily for 18 months and the serum calcium concentration was maintained at 9 to 10 mg/dl. Bone pain subsided within one week of treatment. Serum phosphorus, immunoreactive parathyroid hormone, and 1,25-dihydroxyvitamin D concentrations and alkaline phosphatase activity were normalized within four to nine months. Radiographs of the knees and hands revealed progressive healing of rickets with complete resolution after one year of treatment. The patients gained 12 cm and 8 cm per year in height as compared with 3 cm and 2 cm, respectively, in the previous year. A transilial bone biopsy obtained from one patient prior to treatment revealed severe osteomalacia associated with osteitis fibrosa. A follow-up biopsy examined after 12 months of therapy showed almost complete healing of osteomalacia and normal mineralization. These observations indicate the following: (1) Long-term intracaval calcium infusions are an effective mode of therapy for these patients, and (2) When adequate serum calcium and phosphorus concentrations are maintained, healing of rickets and normal growth rate could be achieved even in the absence of a normal 1,25-dihydroxyvitamin D3 receptor-effector system.

Biopsy↗
PubMed1987

Computerized classification of congenital malformations using a modified Bayesian approach.

The diagnostic classification of children with dysmorphic features involves over 200 syndromes and 232 findings, with an average of about 15 findings per syndrome. A knowledge base expressed in terms of Boolean combinations of findings is impractical. The normal Bayesian method requires a very large incidence matrix with the vast majority of cells being zero. A modified Bayesian method is proposed in which each syndrome is described in terms of its associated findings, whose incidence P (S/D) are designated as essential (0.90), prevalent (0.90), occasional (0.70) or rare (0.15), whilst P(S/-D) ranged from (0.08) to (0.10). The Bayesian calculation determines the probability of the presence P(D/S) or the absence P(-D/S) of each syndrome. The differential diagnosis consisted of all syndromes whose presence has a probability greater than 0.85. One hundred and thirty-one cases from the Hanna Khoushi Developmental Pediatrics Center at Haifa's Rothschild Hospital were considered. Of the 42 cases for which the center's specialists reached a diagnosis, the system listed the correct diagnosis for 91%. The system reached a diagnosis in about half of the remaining 89 cases. The medical literature is arranged by syndrome whilst the computer allows a case by case approach, thereby avoiding the need for the physician to consider each syndrome to see if it fits his case. This study shows that our modified Bayesian analysis is a valid method for shortening the physician's search in an area of great diagnostic complexity.

Bayes Theorem↗
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↗
PubMed1978

Routine analysis of dermatoglyphics and palmar creases in children with developmental disorders.

A dermatoglyphic and palmar crease analysis was carried out in 100 children aged six months to five years with psychomotor retardation (excluding Down's syndrome). When compared with 121 of the parents and a random group of 168 school-children, certain unusual features were found to be twice as common in the retarded children, demonstrating that these features may indicate an 'at risk' infant if found during routine examination of the newborn.

Child Development↗