Biomedical subjects
Publications and source records attributed to A G Hunter.
In an outbreak of a degenerative myopathy six animals from a group of 20 intensively reared yearling bulls were affected. With one exception there was no history of stress or unaccustomed exercise. The diet was found to be deficient in vitamin E and selenium and it is thought that the rapid growth rate of the bulls concurrent with a continuing myodegeneration was sufficient to precipitate clinical disease.
This paper is the second part of a survey of 370 patients with craniosynostosis. It concerns 109 patients with coronal synostosis, with or without additional suture involvement who lacked polysyndactyly or syndactyly. Bilateral and unilateral coronal synostosis occurred with approximately equal frequency and there was an excess of males in both groups. Multiple suture involvements was frequent in patients with bilateral synostosis, but was uncommon in those with unilateral involvement. Those patients with bilateral synostosis and additional suture involvement were treated later than those with isolated bilateral synostosis and a possible explanation for this finding is discussed. Forty-seven percent of patients with bilateral synostosis had additional major malformations. Cardiac malformations were significantly more frequent than would be expected by chance. Thirty-five percent of patients with unilateral involvement had major malformations. Twenty-six percent of those with bilateral and ten percent of those with unilateral synostosis were mentally retarded, but retardation was found to be associated either with increased frequency of major malformations or with a complex medical history. Mental retardation is uncommon in simple, uncomplicated coronal synostosis. Twelve of the 104 families showed a positive family history; nine with vertical and three with horizontal transmission. An admixture of unilateral and bilateral suture involvement was the rule, and families with involvement limited to unilateral synostosis did not occur. Certain patterns of characteristic familial minor malformation, particularly of the hands, allow recognition of a number of these familial cases. The recurrence risks for coronal synostosis are discussed.
This paper reports two patients with a ring 22 chromosome which has been confirmed by Q-banding. The literature contains 19 patients with a ring G-group chromosome which has been shown by chromosome banding to be a ring 22. The most commonly reported features in affected patients have included: retardation with disproportionate verbal delay, reduced head circumference, hypotonia, unsteady gait, large ears with abnormal configuration, and epicanthic folds. The importance of these, as well as other, less often noted findings, is discussed in relation to a possible r(22) syndrome.
An infant who died in the perinatal period with the unusual association of trisomy 18 and cebocephaly is described. It is suggested that this association may be more common than is generally recognised because the majority of such infants are stillborn or live only briefly and often do not have chromosome studies performed.
This paper describes 6 individuals, occurring in 3 generations of a single family, who were affected by a distinct syndrome which included: retardation and microcephaly; a small oval face with almond-shaped eyes, droopy eyelids, a small nose, and small downturned mouth; minor acral skeletal anomalies, and short stature. Craniosynostosis, heart defects, and limited elbow extension were seen less frequently. Expression was variable and parents who were in the direct vertical line of transmission of the syndrome showed few, if any, overt signs of the disease. However, the metacarpal/phalangeal profile of the parents showed a similar pattern to that seen in the affected individuals, and it is suggested that this profile may be the most sensitive indicator of carrier status.
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Experiments were designed to determine if repeated inseminations of egg yolk diluent containing no semen would induce antibodies against egg yolk and would have an adverse effect on subsequent fertility under routine conditions of artificial insemination. Extender containing antibiotics polymyxin, dihydrostreptomycin, and penicillin and the enzyme beta amylase, with or without hen's egg yolk, was inseminated three to four times into virgin dairy heifers. The heifers subsequently were bred with bovine semen suspended in the extender containing egg yolk. Antibodies against antigens in the egg yolk extenders were not detected by complement fixation and agar gel immuno-diffusion, either in blood serum or in whole and homogenized cervical mucus taken before and after the repeat inseminations. Allergic reactions to the semen extender were not observed in any of the heifers. Calving rate from one service was 63.6% (7/11) for controls, 68.2% (15/22) after prior inseminations with egg yolk extender, and 69.2% (9/13) after prior inseminations with extender minus egg yolk. Under routine conditions of artificial insemination three to four exposures to extenders with or without egg yolk did not affect subsequent fertility adversely.
A woman is described who has a severe bone dysplasia confined to the limbs. The degree of involvement is more marked in the distal bones. Her forearms and legs are short; the fibulae are represented by distal triangular remnants; the metacarpals are short, several phalanges in the fingers are absent; and the toes are represented by "ball-like" remnants containing a single bone. The findings in our patient are compared to previously reported cases of acromesomelic dwarfism.
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An outbreak of Salmonella typhimurium in an upland sheep flock was characterised by rapid spread and heavy mortalities in ewes and young lambs. Clinical signs included diarrhoea and abortion. Abomasitis was the most striking and consistent post mortem lesion. Vaccination was the only control method that was apparently successful. Infection also occurred in the cattle, farm personnel, and a dog. Following the outbreak, pasture contamination and excreting cattle provided a reservoir of infection so that contamination of water courses and sporadic cases occurred over a year later.
The clinical and genetic findings in 214 patients with sagittal synostosis are described. Seventy-three per cent of the patients were male. Children with sagittal synostosis were treated earlier than those with coronal synostosis. Major malformations occurred in 22%, and 8.9% were mentally retarded. The retardation was clearly unrelated to the synostosis in almost half the patients. The remaining retarded patients had a significantly lower mean birth weight, higher frequency of malformations, and later age at operation than the control group. We believe the late age at operation was due to bias in the ascertainment of this group of retarded children, and that sagittal synostosis was simply one of a number of malformations that can occur in children with intrinsic retardation. Familial data and the skull measurements of a sample of parents of affected children were compatible with multifactorial inheritance; however there is need for prospective family studies and parental measurements on ethnically uniform groups.
This paper compares the manifestations of sporadic, dominantly inherited and recessively inherited humero-radial synostosis with the aim of determining ways of separating these forms on clinical grounds. The genetic forms are characterized by bilateral involvement and by lack of the distal ulnar malformations and the absence of digits that are common in the sporadic cases. The majority of patients with the dominantly inherited form have a characteristic pattern of anomalies, including brachymesophalangy, and the recessive cases have a high frequency of malformations in addition to those of the limbs. Consanguinity is frequent in the families of recessive cases. Four additional patients are presented; two of them illustrate many of the features of the phocomelic syndrome reported by Herrmann et al. (1969). A possible teratogenic cause of these cases is discussed.
A mother and her son are described with neonatal trigonocephaly, multiple suture synostosis; shallow orbits; unusual nose; deviation of the terminal phalanges of fingers 1, 2, and 5; and broad toes which radiologically may show duplication of the terminal phalanx. Untreated, the condition leads to a disfiguring oxycephaly with hypotelorism. This appears to be the first documented instance of autosomal dominant trigonocephaly. The importance of the minor anomalies in its recognition and its good prognosis are emphasized.
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Explore the source record for details and available documents.