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Biomedical subjects

R B Lowry

Publications and source records attributed to R B Lowry.

At least 91 records · Page 5Linked to original sources
PubMed1976

Down syndrome in British Columbia, 1952-73: incidence and mean maternal age.

Records of children with Down syndrome (DS) at the BC Health Surveillance Registry were linked to their Birth Registrations to derive maternal ages. Incidence and maternal-age specific rates were calculated for 1952-73. Mean maternal age has declined both for normal and DS children, the latter to a marked degree, so that in 1972-73 80% were born to women under 35 years. Using maternal age of 40 and over as an indication for amniocentesis would only detect 10% of DS children. The crude incidence rate (mean 1.28/1000 livebirths) has not changed appreciably over the study period except for 1969 in which a statistically significant peak occurred. The standarized rate showed an increasing trend but it is not clear whether this was a true biological increase or resulted from better ascertainment.

Adult↗
PubMed1976

Hypospadias in successive generations - possible dominant gene inheritance.

Two families were ascertained with multiple cases of hypospadias. In one family, four generations were reported to be affected and this was proven in three generations. In the second family, a father and two sons were affected. We suggest that dominant gene inheritance may be responsible for a small number of hypospadias cases. The incidence of hypospadias in British Columbia is 1 per 250 live male births and, using Edwards' formula, this gives a theoretical empiric recurrence risk of about 6%.

Consanguinity↗
PubMed1975

Analysis of urinary mucopolysaccharides using small ion exchange columns.

Methods are presented for the small scale column chromatography of urinary mucopolysaccharides. After isolation by cety pyridinium chloride mucopolysaccharides are applied to a small column of ion exchange resin and eluted by 2 M-sodium chloride. Colorimetric assays on this elutate allow clinically significant disease states to be detected.

Chemical Precipitation↗
PubMed1975

Syndrome of epiphyseal dysplasia, short stature, microcephaly and nystagmus.

This report describes two brothers with short stature, congenital nystagmus and microcephaly. The radiographic findings disclosed small, irregularly shaped epiphyses, square iliac bones and flattened acetabulae. The humeri and femora were short. The parents were normal. The syndrome is possibly X-linked, or autosomal recessive in origin.

Bone Diseases, Developmental↗
PubMed1975

A new dwarfing syndrome with extreme shortening of humeri and severe coxa vara.

A previously undescribed form of short-limbed dwarfism is reported in an 86-year-old man. All the long bones were shorter than normal, with extreme shortening of the humeri. Other features included dysplastic humeral heads, coxa vara with dysplasia of the femoral heads and acetabula, platybasia, and small vertebral bodies. In all other respects, including intelligence, the patient was normal for his age.

Aged↗