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Biomedical subjects

M J Bull

Publications and source records attributed to M J Bull.

17 recordsLinked to original sources
PubMed1992

Familial occurrence of renal and Müllerian duct hypoplasia, craniofacial anomalies, severe growth and developmental delay.

Absence of the kidneys and of the Müllerian structures has been reported in many patients. We report on a brother and sister, born to nonconsanguineous parents, with renal hypoplasia, Müllerian duct hypoplasia, and strikingly similar facial abnormalities. Both sibs have severe growth and developmental retardation. We think that the unique clinical findings in these sibs represent a new syndrome. The embryological and genetic implications of this condition are discussed.

Abnormalities, Multiple↗
PubMed1979

Obstetrics and the GP.

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Education, Medical, Continuing↗
PubMed1979

Hypospadias: a familial study.

The families of 177 boys with varying degrees of hypospadias were evaluated prospectively to determine the occurrence of hypospadias and other congenital anomalies within this population. A significant number of male subjects in each family member category were affected, with first degree relatives (brothers and fathers) having a 14 and 9 per cent incidence, respectively. Siblings were at a greater risk for having this anomaly when the proband had a more severe degree of hypospadias and when the abnormality also was present in other relatives. A multifactorial mode of inheritance is suggested as the basis for transmission of this congenital defect.

Abnormalities, Multiple↗
PubMed1978

GP obstetrics.

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Female↗
PubMed1978

Cervical-spine instability in children with Down syndrome (trisomy 21).

Eighty-five children with Down syndrome, between sixteen months and eighteen years old, were evaluated for instability of the cervical spine at the atlanto-axial joint. The mean atlas-odontoid process interval was three millimeters in flexion and two millimeters in extension. Ten patients (12 per cent) exhibited abnormal intervals (4.5 millimeters or more) during either flexion or extension. The configuration of the odontoid process was considered normal in eighty patients and abnormal in another five patients (6 per cent). The correlation between the thickness of the interval and the degree of ligament laxity was statistically significant, as was the correlation between ligament laxity and age. Of the ten patients with an increased atlas-odontoid process interval, neurological deficit (hyperreflexia and clonus) developed in only one after a one-year follow-up.

Adolescent↗
PubMed1976

Rubella antibody tests in family planning clinics.

Women attending for family planning advice at area health authority and general practitioner clinics were offered a test of rubella antibody status. The acceptance rate was approximately 50 per cent. Of the 100 women tested, 15 were not immune and 8 of these were subsequently vaccinated. In this study, the cost of the service was estimated to be 1-50 pounds per woman, or approximately 5000 pounds to prevent one case of congenital rubella. On this basis the assessment of rubella immunity in women using reliable contraception is considered to be feasible and could prove even more worthwhile on a cost-benefit basis if applied to an entirely nulliparous group.

Adolescent↗
PubMed1975

Mucolipidosis III (pseudo-Hurler polydystrophy): Clinical and laboratory studies in a series of 12 patients.

Mucolipidosis III (pseudo-Hurler polydystrophy) is an autosomal recessively inherited Hurler-like disorder without mucopolysacchariduria. Previous reports have noted a constellation of laboratory features similar to that described for mucolipidosis II (I-cell disease). Studies were carried out on a series of 15 patients. Twelve were found to have changes in serum and cultured fibroblasts which consisted of marked elevations of several acid hydrolases in serum with low levels of the same enzymes in cultured cells, a marked increase in dense cytoplasmic inclusions and abnormal radioactive sulfate kinetics. The clinical features of these 12 patients comprise a phenotypic entity. Despite clinical similarity, the 3 remaining patients were not felt to represent mucolipidosis III. The basic defect in mucolipidosis III remains unknown, but is suggested that the defect is similar to that of mucolipidosis II, from which it must be distinguished clinically.

Adolescent↗