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Biomedical subjects

A M Morgan

Publications and source records attributed to A M Morgan.

28 records · Page 2Linked to original sources

Proximal 15q variant as possible pitfall in the cytogenetic diagnosis of Prader-Willi syndrome.

A patient with Prader-Willi syndrome showed an elongated proximal 15q, and thus was initially considered to be negative for a proximal 15q deletion. However, repeated high resolution chromosome study demonstrating the DNA-replication banding patterns revealed an obvious deletion/deficiency of the 15q12 equivalent band on that elongated chromosome 15. This deletion was further verified by comparison with the parental chromosomes 15 and the deleted chromosome 15 was of paternal origin. The elongation was due to a long variant of 15q11.2 band, which has previously been shown to be polymorphic/variable. This variable proximal 15q site could potentially mask a deletion if it is too long, or mimic a deletion if it is too short. The use of the DNA-replication banding technique instead of the more widely used trypsin banding technique could alleviate this possible pitfall.

Chromosome Banding↗

Tentorial hemorrhage associated with vacuum extraction.

The clinical and radiologic descriptions of three neonates with tentorial hemorrhage after vacuum extraction are reported. All patients were full term, with Apgar scores of 8 or more; one patient experienced fetal distress during delivery. Within 36 hours after birth, the neonates had multiple generalized seizures; computed tomography or magnetic resonance imaging outlined distinctive tentorial hemorrhages with extension over the superior surface of the cerebellum or inferior surface of the occipital lobe. One patient had diffuse hypoxic-ischemic injury, and another had bilateral temporal lobe infarcts. Treatment included medical control of seizures and intracranial hypertension; one patient had surgical evacuation of bilateral subdural hematomas. Follow-up from 1 to 5 years showed significant developmental delays in two patients. These cases demonstrate that the forces generated on the fetal cranium by vacuum extraction are similar to those produced by forceps and result in tentorial laceration, venous rupture, and subdural hemorrhage. Because these hemorrhages may be associated with significant ischemic injury, serial radiologic evaluation is recommended for the detection of persistent structural abnormalities.

Birth Injuries↗

Neonatal neurobehavioral examination. A new instrument for quantitative analysis of neonatal neurological status.

A new neonatal neurobehavioral examination (NNE) was designed in response to the need for a more quantitative assessment of neonatal neurological status. The NNE consists of 27 items divided into three sections: 1) tone and motor patterns, 2) primitive reflexes, and 3) behavioral responses. Each section consists of 9 items scored on a three-point scale. Fifty-four healthy full-term infants were examined at 2 days of age and demonstrated total NNE scores ranging from 70 to a maximum possible score of 81 (X = 76, s = 1.03). Mean section scores for these infants ranged from 25.3 to 26.6 (s = .59-1.79). Intertester agreement was 88% by item and 95% by total score in each section. Two hundred ninety-eight high-risk infants were then examined at 37 to 40 weeks conceptional age (gestational age plus chronological age) or at discharge from the neonatal intensive care unit, whichever occurred first. Total NNE mean scores for high-risk infants fell into discrete clusters by conceptional age at the time of examination (37-42 weeks, mean score = 66.5; 34-36 weeks, mean score = 60.7; less than 34 weeks, mean score = 51.1). Similar clustering occurred for the three section scores. Highly significant differences existed between the three conceptional age groups for total scores and section scores. No clinically significant score differences were associated with severity of illness or gestational age at birth. The results of this study suggest that the NNE easily and reliably assesses infants' neonatal neurobehavioral status at a given conceptional age. Additional studies are in progress to determine the value of the NNE in predicting subsequent developmental disabilities.

Child Behavior↗

Use of stimulant medications in children.

A systematic approach to the use of stimulant medications is required in the treatment of attention deficit disorder and associated learning problems. The diagnosis of attention deficit disorder must be confirmed before drug therapy is started, and parents must be counseled about the use of stimulant medications. The actions and side effects of the various treatment alternatives should be discussed.

Attention Deficit Disorder with Hyperactivity↗

Phenotypic features of patients with congenital adrenal hypoplasia and glycerol kinase deficiency.

Two unrelated boys with congenital adrenal hypoplasia and glycerol kinase deficiency were found to have similar features, including characteristic facies, testicular abnormalities, short stature, psychomotor retardation, and muscular dystrophy. The resemblance of these boys to other patients described in the literature suggests that a distinct phenotypic syndrome occurs in children with congenital adrenal hypoplasia and glycerol kinase deficiency.

Adrenal Insufficiency↗

Treatment of palmoplantar pustulosis with intralesional triamcinolone injections.

Five patients with chronic intermittent palmoplantar pustulosis were treated with intralesional injections of 3.3 to 5.0 mg/mL of triamcinolone acetonide. Prompt clearing of symptoms and lesions ensued, lasting three to six months. Despite the discomfort experienced from the injections, patients preferred this treatment modality over others. Minor side effects included hypopigmentation, cutaneous atrophy, and, in one case, exacerbation of a latent dermatophyte infection.

Administration, Topical↗

Correlation of Frostig visual perception scores and verbal IQs among epileptic children.

In a large study of the visual-perceptual deficits of epileptic children both Frostig's Developmental Test of Visual Perception and the verbal part of the German version of the WISC were administered. All WISC subtests correlated significantly with the Frostig Perceptual Quotients. Verbal IQs correlated significantly with scaled scores of all the Frostig subtests. From the results of this pilot study it was suggested that intellectual abilities of epileptic children as measured by the verbal WISC and visual perception as measured by the Frostig are both influenced by the same contingencies.

Child↗

Visual perception disabilities in epileptic children at the beginning of schooling.

Even among normally intelligent epileptic children learning difficulties occur with relative frequency. It seemed plausible to assume that visual perception problems play an important role. We decided, therefore, to analyse the quantity and quality of such disabilities. 42 epileptic children between 5 and 8 years of age, all capable of attending school, were tested with M. Frostig's Developmental Test of Visual Perception. The results can be summarized as follows: 1. The average perceptual quotient fell below the normal range. 2. There were significant differences in perceptual ability between children with primary generalized epilepsy and those with generalized secondary or partial epilepsy, to the disadvantage of the latter group. 3. In particular the Scaled Score of Subtest II measuring figure ground perception proved to be a sensitive criterion. The Subtest is therefore recommended as a screening method to uncover visual perception deficiencies in epileptic children prior to the beginning of schooling.

Child↗