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Biomedical subjects

A G Hunter

Publications and source records attributed to A G Hunter.

At least 127 records · Page 7Linked to original sources

Alteration of seminal proteins during freeze-drying of bovine semen.

Bovine semen in TEST-yolk extender was frozen, freeze-dried to 50, 25, 12, 6, and less than 2% residual moisture, and stored at -196 degrees C. The freeze-dried semen was rehydrated, sampled for protein analysis, and used to inseminate cattle. Agar gel electrophoresis revealed no moisture was reduced to less than 6%. At that point, the percent of cationic proteins and neural proteins decreased with a concurrent increase in anionic migrating proteins. Immunodiffusion data with antisera against spermatozoa and seminal plasma revealed no difference in formation of precipitin lines if residual moisture was at least 6%. However, semen freeze-dried to 2% residual moisture was modified antigenically as certain precipitin lines were lost, new lines appeared, and concentration of other seminal antigens decreased. The absence of fertility with semen freeze-dried to 2% residual moisture is hypothesized to 2% residual moisture is hypothesized to be from alteration of the tertiary structure of certain essential seminal proteins.

Animals↗

Aphosphorosis in North Yemen cattle.

A syndrome of unthriftiness, stiffness, anorexia, recumbency and pica in cattle of the Yemen Arab Republic was investigated for the first time. The condition is virtually confined to cows in the Central and Northern Highlands where they are housed continuously and hand fed fresh lucerne and dried sorghum stalks frequently supplemented with domestic scraps. Affected cows had a low mean blood inorganic phosphorus (0.6 mmol/litre) but normal serum calcium and magnesium. Blood phosphorus and serum calcium levels were negatively correlated and fluctuated seasonally, possibly associated with rainfall. The basic diet of lucerne and sorghum stalks was adequate for maintenance but deficient in phosphorus, energy and protein for milk production. The high calcium content of the lucerne portion resulted in wide calcium: phosphorus ratios of 8.8 to 16.5:1. The similarity of the syndrome to osteomalacia caused by phosphorus deficiency in other parts of the world is discussed.

Animals↗

The Coffin-Lowry syndrome. Experience from four centres.

The Coffin-Lowry syndrome is an established syndrome of mental retardation, a characteristic facies and skeletal anomalies. This paper describes 12 cases from eight families and compares their findings with those of previously reported patients. The differential diagnosis is considered. Physical findings and pedigree data strongly support X-linked semi-dominant inheritance. The gene appears widely distributed and, as expected, a significant proportion of cases represent new mutations. We cannot confirm the metacarpal-phalangeal profile or fingertip dermatoglyphics as useful diagnostic aids. Skin biopsy studies from four of our patients gave no evidence for a primary disorder of lysosomes or a degenerative disease. Caution is urged before assuming that such patients will all show intellectual deterioration.

Abnormalities, Multiple↗

Two children with deletion of the long arm of chromosome 4 with breakpoint at band q33.

A 10-year-old boy with developmental delay, craniofacial dysmorphia, malformations of the hands and feet and a cardiac malformation was found to have a small deletion of the distal region (q33 leads to qter) of the long arm of a chromosome 4. The clinical findings in this case are compared with those of a 17-week-old girl recently found to have the same deletion. Two additional patients with similar small deletions have been described in the literature. The similarity among the cases suggests the possibility of a deletion (4) (q33) syndrome. The major features of the syndrome are similar to those of larger deletions of the long arm of chromosome 4 and include mental and growth retardation, craniofacial dysmorphia including upslanting palpebral fissures, depressed nasal bridge, anteverted nares, abnormally shaped ears and micrognathia, and cardiac defects.

Abnormalities, Multiple↗

Autosomal dominant hypoparathyroidism: a proband with concurrent nephrogenic diabetes insipidus.

In this paper we report an extended family with well documented autosomal dominant hypoparathyroidism which was ascertained through a proband with coincident nephrogenic diabetes insipidus. Clinical findings were limited to a slight decrease in overall stature and to clinical signs of hypocalcaemia. Intelligence was normal and two patients were asymptomatic. Published reports have established that autosomal dominant, autosomal recessive, and sex linked recessive familial isolated hypoparathyroidism exist. However, in almost half the reported families an X linked dominant aetiology cannot be excluded and, at present, clinical criteria provide only minimal aid in distinguishing between the different genetic types. There remains a need for detailed documentation of further families were the pattern of inheritance is clear.

Adult↗

Concentrations of sperm, protein and a sperm membrane glycoprotein within boar epididymal luminal fluids.

Boar rete testis fluid and luminal contents from nine epididymal segments were collected for analysis. From proximal to distal, segments were designated A, B, C (caput), Da, Db, Ea (corpus) and Eb, Fa, Fb (cauda). Concentrations of sperm, protein and soluble sperm membrane glycoprotein S2P3 were lowest in the caput epididymidis (region A) and highest in the proximal corpus epididymidis (region Da). At region Da, approximately 94% of the fluid that had entered the epididymis had been reabsorbed. More total protein was found in the luminal fluid of region Da than could be accounted for on the basis of concentration via fluid removal. The proximal cauda epididymidis was the major luminal protein-removing region. However, large amounts of glycoprotein S2P3 were removed from the luminal fluids during passage through the caput epididymidis, and smaller amounts were removed during passage through the cauda epididymidis.

Animals↗

A study of institutionalized mentally retarded patients in Manitoba. I: Classification and preventability.

This preliminary report concerns the types, and the possibility of prevention, of mental retardation found among 406 patients less than 20 years of age and with IQs less than or equal to 50 who had been admitted to institutions for the retarded in Manitoba prior to 1977. The retardation appeared to be of genetic origin in 27.8 per cent of cases, and acquired in a further 30.3 per cent. 31 per cent of the genetic and 55 per cent of the acquired, or 25.4 per cent of the total group, are considered to have been avoidable, given the full application of current techniques and knowledge.

Adolescent↗

An epidemiological study of facial clefting in Manitoba.

The results of an epidemiological survey of facial clefting in the province of Manitoba which covered the years 1964 to 1977, inclusive, are reported. The mean annual incidence of total facial clefts was 2 in 1000 births; the incidence of cleft lip +/- cleft palate (CLP), and of cleft palate (CP), unassociated with a syndrome or two or more major malformations, was 1.05 in 1000 and 0.46 in 1000, respectively. Mennonite infants were over-represented in the CLP group and Amerindian infants in both the CLP and CP groups. These ethnic groups also had more familial cases and showed higher average coefficients of inbreeding. Recurrence rates among sibs were found to be influenced by the presence or absence of additional affected relatives and by the presence of malformations in the proband. It is possible that these latter two variables may not be independent.

Abnormalities, Multiple↗

Genetic polymorphisms of blood and milk and reproduction in Holstein cattle.

Associations of blood and milk protein polymorphisms with reproductive performance were examined in more than 32,000 services in 15,000 service periods of 6,000 cows and 700 service sires in Holsteins. Seven blood groups, one serum protein, and four milk proteins were analyzed for relation to reproductive traits including conception rate and days open. Associations between polymorphic systems and reproductive traits in 15 of 112 analyses were significant. The S blood system appeared most influential, having statistical significance in five of ten traits. These were conception rates in all services for female phenotypes, male phenotypes, and male by female phenotypes combined, conception rate in first services for female phenotypes, and probability of conception for female phenotypes. The FV system influenced conception rates in all services and in first services for male by female phenotypes combined. Four of the polymorphic systems had no effect on any of the reproductive traits. Maternal-fetal incompatibility was not evident from comparing parental combinations of aborted fetuses and normal calves. Conception rates declined with age of cow. For animals that ultimately conceived, conception rates did not decline consistently from first to later services within a service period.

Animals↗

Partial trisomy 8 mosaicism with 46,XX/46,XX-8,+dic(8).

We report a girl with partial trisomy-8 mosaicism whose clinical findings were those of the Warkany et al. (1962) [17] or trisomy 8 syndrome. A dicentric autosome, dic(8) (qter leads to p21::p21 leads to qter), was found in all abnormal cells and evidence is presented that one centromere was inactive, allowing the dicentric to behave as a monocentric chromosome. The parents had normal karyotypes.

Centromere↗

Interstitial deletion of the long arm of chromosome 10.

A patient who had a karyotype 46,XY, del (10) (q11q21) is reported. The clinical findings in this boy included significant development delay and what appeared to be a combination of positional deformities and minor anomalies.

Abnormalities, Multiple↗