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Biomedical subjects

A G Hunter

Publications and source records attributed to A G Hunter.

At least 145 records · Page 8Linked to original sources
PubMed1979

The Bowen-Conradi syndrome -- a highly lethal autosomal recessive syndrome of microcephaly, micrognathia, low birth weight, and joint deformities.

This paper describes six Hutterite children from five families who appear to have been affected by the same syndrome that was described in two brothers by Bowen and Conradi [1]. Our additional cases confirm that the major features of the syndrome include porportionate intrauterine growth retardation, microcephaly, micrognathia, a prominent nose, rocker-bottom feet, joint limitation, and failure to thrive, with death within the first year of life. Bowen-Conradi syndrome is an autosomal recessive trait and pedigree records show that all six families now known are related to each other through two couples born in the late 1700s but that there are additional earlier possible sources of the responsible gene. The differential diagnosis of this syndrome is discussed.

Abnormalities, Multiple↗
PubMed1979

Is there a fetal gasoline syndrome?

Two children from a small Amerindian community presented with profound retardation, initial hypotonia progressing to hypertonia, scaphocephaly, a prominent occiput, poor postnatal head growth, and additional minor anomalies. Abuse of gasoline by inhalation was a widespread problem in the community, and gasoline inhalation during the pregnancy could be documented in both of the pregnancies. We are raising the question as to whether inhalation of gasoline during pregnancy may be teratogenic in humans.

Adolescent↗
PubMed1979

Counseling problems when twins are discovered at genetic amniocentesis.

With the increased use of routine ultrasonography at the time of genetic amniocentesis, twins are increasingly likely to be discovered at the time when the procedure is to be carried out. In the presence of twins the likelihood of finding an abnormality may be significantly increased, but at the same time problems such as discordance between the twins for the abnormality, or the inability to test both twins may occur. This altered situation may affect the parents' decision as to whether or not to undertake amniocentesis, and the need for additional counseling prior to proceeding with the amniocentesis is stressed.

Amniocentesis↗
PubMed1979

A supernumerary "G" like chromosome originating from a maternal 13;15 translocation in a nondysmorphic, retarded girl.

This paper describes a retarded girl who had a severe seizure disorder and a few minor anomalies, and who was found to have a "G-sized" supernumerary chromosome in all her cells which were examined. Studies of the patient's and her parents' chromosomes by a variety of techniques suggest that the supernumerary chromosome arose following a prezygotic maternal 13;15 translocation.

Child↗
PubMed1979

Night blindness, characteristic facies, and skeletal abnormalities in two brothers.

Two brothers are described with a similar physical appearance characterised by minor periorbital anomalies, malar flatness, a maxillary overbite, retrognathia, sloping shoulders, joint hyperextensibility, and minor radiological anomalies. In addition, they had a slowly progressing night blindness, myopia, and extinguished electroretinograms. The mother had mild expression of some of the physical anomalies and a decreased electroretinogram response to red light. We have been unable to find any report of similarly affected children. The possible modes of inheritance are discussed.

Abnormalities, Multiple↗
PubMed1979

Effect of alpha-chlorohydrin on epididymal sperm and epididymal plasma in swine.

Investigation of the contraceptive mechanism of alpha-chlorohydrin was done by analyses of epididymal plasma and certain epididymal sperm characteristics after oral administration of 0, 5, 10 or 30 mg/kg, day of the drug to boars for 15 days. Water resorption in caput epididymidis was slightly decreased in all treatment groups. Sodium, potassium, chloride, glycerylphosphorylcholine levels, and seminal antigens in epididymal plasma were not altered significantly by 10 or 30 mg/kg of the drug. The boars on 5 mg/kg exhibited significantly elevated sodium, potassium, or chloride values in various segments. Motility was significantly lower on corpus and proximal cauda epididymal spermatozoa from alpha-chlorohydrin treated boars. Only boars receiving 30 mg/kg exhibited impaired sperm motility in the distal cauda. The movement of the cytoplasmic droplets to the distal position was retarded in boars on the two highest dose levels. The results suggest that the contraceptive effects of alpha-chlorohydrin in the boar is probably not mediated via an impaired epididymal function.

Animals↗
PubMed1978

Geroderma osteodysplastica. A report of two affected families.

This paper describes two families in which four boys and two girls were affected with geroderma osteodysplastica. The major features of this syndrome include a droopy, jowly, prematurely aged appearance that has been likened by previous authors to the dwarfs in Walt Disney's 'Snow White.' Also, their skin lacks normal elastic recoil. The bones are osteoporotic and susceptible to fractures, particularly the vertebrae, which show compression with anterior wedging and biconcavity. The findings in the present families are compared with those in the originally reported family. There was a high degree of consanguinity between the parents in both of the present families and the previous hypothesis of X-linked inheritance is questioned.

Bone Diseases, Developmental↗
PubMed1978

Mental retardation and osteosclerosis.

We report a girl with profound mental retardation who, at 3 years of age, began to show a progressive osteosclerosis on bone roentgenograms. The bony changes were slightly suggestive of osteopetrosis from which they differed by a number of unusual features.

Adolescent↗
PubMed1978

Down syndrome and recent demographic trends in Manitoba.

Two hundred and thirty-three children born in Manitoba with Down syndrome between 1965 and 1974 were ascertained and the maternal ages obtained. Mean maternal age was found to have declined in this period both for all livebirths and to a greater extent for Down syndrome children. Though the proportion of mothers of Down syndrome infants with a maternal age of less than 35 years remained the same, the proportion of mothers aged 35 to 39 years increased and the age specific incidence of Down syndrome became significantly greater for women in this age group. Reduction in the proportion of Down syndrome births to women over 40 years and the increased incidence of Down syndrome in children of women aged 35 to 39 years has important consequences for the planning of amniocentesis programmes.

Birth Rate↗
PubMed1978

Colostral constituents including immunoglobulins in the first three milkings postpartum.

Colostral changes in immunoglobulin (IgG), dry matter, ash, total protein, and whey protein were studied over the first three milkings postpartum. Immunoglobulin IgG concentration in colostrum from Holstein cows beginning their first, second, or third lactation was similar. However, older animals had more IgG in colostrum. Its rate of disappearance from colostrum was greater in younger animals. Dry matter, ash, total protein, and whey protein concentrations decreased from the first to the third milking (24 h) postpartum. Protein was the most variable constituent between cows at the same postpartum time.

Animals↗
PubMed1978

Absorption of colostral proteins by newborn calves fed unfermented, fermented, or buffered colostrum.

Unfermented, frozen colostrum from the first three postpartum milkings of 10 cows was thawed, pooled, and treated to produce three diets: 1) unfermented, 2) fermented (7 days at 25 to 27 C), and 3) fermented (as in 2) with pH adjusted to match that of unfermented colostrum. Eighteen newborn, unsuckled Holstein calves were assigned randomly to one of the three diets. Colostrum diets were thawed and fed at 0, 8, 16, 24, and 36 h. Blood was sampled at 0, 4, 8, 16, 24, and 48 h. Minimal breakdown of colostral gamma-globulin and immunoglobulin G (IgG) occurred during fermentation. Protein breakdown during fermentation was associated primarily with the casein fraction. Concentrations of gamma-globulin in serum of calves receiving unfermented colostrum were higher than those of calves fed fermented colostrum at all sampling times beyond 0 h. Concentrations of gamma-globulin in serum of calves fed buffered colostrum were intermediate. Concentrations of IgG followed a similar trend. Health problems were not encountered, indicating potential for passive immunization of newborn calves via fermented, buffered colostrum in emergency situations.

Absorption↗