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Biomedical subjects

J Slee

Publications and source records attributed to J Slee.

16 recordsLinked to original sources
PubMed2001

Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome.

Hemifacial microsomia (HFM) is a common birth defect involving first and second branchial arch derivatives. The phenotype is extremely variable. In addition to craniofacial anomalies there may be cardiac, vertebral and central nervous system defects. The majority of cases are sporadic, but there is substantial evidence for genetic involvement in this condition, including rare familial cases that exhibit autosomal dominant inheritance. As an approach towards identifying molecular pathways involved in ear and facial development, we have ascertained both familial and sporadic cases of HFM. A genome wide search for linkage in two families with features of HFM was performed to identify the disease loci. In one family data were highly suggestive of linkage to a region of approximately 10.7 cM on chromosome 14q32, with a maximum multipoint lod score of 3.00 between microsatellite markers D14S987 and D14S65. This locus harbours the Goosecoid gene, an excellent candidate for HFM based on mouse expression and phenotype data. Coding region mutations were sought in the familial cases and in 120 sporadic cases, and gross rearrangements of the gene were excluded by Southern blotting. Evidence for genetic heterogeneity is provided by the second family, in which linkage was excluded from this region.

Abnormalities, Multiple↗
PubMed2000

Yellow nail syndrome presenting as non-immune hydrops: second case report.

The yellow nail syndrome is characterized by slowly growing yellow discolored nails and lymphoedema, with onset generally after puberty. We report on a newborn infant who, at 23 weeks, was found to have hydrops on antenatal ultrasonography and bilateral chylothorax at delivery. His mother has the yellow nail syndrome, with typical nail changes, and bronchiectasis. There seemed to be no other etiology for the non-immune hydrops, and this is the second documented case of the prenatal manifestation of this condition.

Adult↗
PubMed1999

Syndrome of microcephaly, microphthalmia, cataracts, and intracranial calcification.

We present two sisters with microcephaly, developmental delay, marked microphthalmia, congenital cataracts, cerebral and cerebellar hypoplasia, and intracranial calcification. No evidence of intrauterine infection was found. There have been previous reports of microcephaly, intracranial calcification, and an intrauterine infection-like autosomal recessive condition, but the sibs in this report appear to represent a more severe form of such a condition or a previously undescribed entity.

Brain↗
PubMed1998

What constitutes cerebral palsy?

Cerebral palsy (CP) is a term of convenience applied to a group of motor disorders of central origin defined by clinical description. It is not a diagnosis in that its application infers nothing about pathology, aetiology, or prognosis. It is an umbrella term covering a wide range of cerebral disorders which result in childhood motor impairment. The precise inclusion criteria vary with the objectives for using the term. For meaningful comparison of rates of CP, as performed by and between CP registers, it is important that the rates should be generated using the same criteria. As generally understood there must be motor impairment, and this impairment must stem from a malfunction of the brain (rather than spinal cord or muscles). Furthermore, the brain malfunction must be non-progressive and it must be manifest early in life. For the purposes of comparisons of rates across time even when the condition meets all the above criteria, it must not historically have been excluded from the category of CP. This paper addresses the problem of standardizing the inclusion criteria for selecting people included on CP registers with particular reference to this last criterion.

Cerebral Palsy↗
PubMed1997

Further evidence for preaxial hallucal polydactyly as a marker of diabetic embryopathy.

Maternal diabetes has an established aetiological link with developmental abnormalities, and the prevalence of major congenital malformations in the offspring of affected women is approximately 4-8%, compared to the general population risk of about 3%. Hallucal polydactyly, particularly with an unusual proximal placement of the extra digit, has been reported as a distinctive anomaly in diabetic embryopathy. We report on a child of a diabetic mother with this unusual form of hallucal polydactyly, together with other skeletal anomalies, confirming that this malformation is a useful clinical marker for the diagnosis of diabetic embryopathy.

Abnormalities, Multiple↗
PubMed1996

Further evidence for a syndrome of "apple peel" intestinal atresia, ocular anomalies and microcephaly.

We report on a male child with "apple peel" atresia, associated with microcephaly, with subsequent hydrocephalus, short stature, moderate global developmental delay and ocular abnormalities. A similar phenotype was previously reported by Stromme et al. in 1993 in female siblings, and this description of another affected individual provides further evidence for this being a distinct syndromic entity.

Abnormalities, Multiple↗
PubMed1994

Familial hemifacial microsomia due to autosomal dominant inheritance. Case reports.

Hemifacial microsomia is a rare dentofacial anomaly which is regarded as a separate entity to Goldenhar syndrome and primarily affects the structures of the first branchial arch. It has a heterogeneous aetiology and tends to occur sporadically, though positive family histories have been reported. This paper reports on individuals in two generations of a family that has overlapping features of hemifacial microsomia and Goldenhar syndrome segregating as an autosomal dominant condition.

Adolescent↗
PubMed1991

Description of the effects of a single gene which inhibits the normal metabolic response of newborn lambs to exogenous noradrenaline.

A group of newborn Scottish Blackface lambs previously selected for low cold resistance failed to show the normal metabolic response to subcutaneous injection of exogenous noradrenaline. A subsequent study showed this failure to be due to a single major gene. Further studies on the thermogenic and physiological responses and on the inheritance of the trait, are described here. Two intercross matings between non-responders produced responder lambs indicating that the gene is not recessive. The increases in metabolic rate and rectal temperature after injection of noradrenaline were much greater in responder than in non-responder lambs (P less than 0.001), as were the increases in heart rate and respiration rate (P less than 0.001). Dissected brown adipose tissue from non-responders was apparently normal and indistinguishable from brown adipose tissue from responders. Although there was no apparent effect of the gene on birthweight or survival, survival under normal field conditions may be affected.

Adipose Tissue, Brown↗
PubMed1982

The effects of cold exposure of pregnant sheep on foetal plasma nutrients, hormones and birth weight.

1. Five pregnant sheep, with indwelling catheters positioned for withdrawal of maternal right-atrial and foetal arterial blood, were exposed for 2 h to neutral and to cold (-10 and wool-clipped) environmental temperatures. Acute maternal cold exposure increased the concentrations of glucose, glycerol and non-esterified fatty acids in maternal plasma and increased the concentration of glucose in foetal plasma, but not glycerol or non-esterified fatty acids. The concentration of corticosteroids in maternal plasma increased. The concentration of corticosteroids in foetal plasma did not change but the concentration of insulin increased. 2. Thirteen pregnant sheep were housed at thermoneutrality and thirteen similar sheep, fed the same amount of food, were clipped and exposed to cold during the last 5-6 weeks of pregnancy. Chronic maternal cold exposure increased the birth weight of both single and twin lambs. 3. It is concluded that exposure of pregnant sheep to cold can alter the partition of some nutrients between mother and foetus in favour of the foetus, and it is suggested how this may be brought about.

Adrenal Cortex Hormones↗
PubMed1980

Hypothermia in newborn lambs induced by experimental immersion in a water bath and by natural exposure outdoors.

A progressively cooling water bath technique was developed to measure resistance to body cooling in newborn lambs. Cold resistance, defined as the time taken to reduce rectal temperature to 35 degrees C, was measured in 429 lambs of 12 different breeds individually immersed in a water bath. Two alternative procedures were used with water temperature falling from 37 degrees C to 12 degrees C or from 25 degrees C to 10 degrees C. In lambs tested twice the repeatability of cold resistance was high: 0.95 and 0.81 respectively in the two types of test. There were clear breed differences in cold resistance, some breeds being up to three times more resistant than others. Health was unimpaired by treatment and preweaning mortality was not affected. Ten of the breeds represented in water bath tests were also used for measurements of rectal temperature 1 h after birth in the field. There was some similarity in the breed rank order for ability to resist hypothermia in the field and in the water bath. Water bath tests of hypothermia in lambs could facilitate genetic selection for improved perinatal survival in the field.

Animals↗
PubMed1972

Habituation and acclimatization of sheep to cold following exposures of varying length and severity.

1. Male and female Scottish Blackface sheep were shorn and exposed for 2 weeks either to a thermoneutral temperature (+30 degrees C), to chronic cold (+8 degrees C) or to +30 degrees C interrupted by daily short cold shocks (-10 degrees C). During and at the end of these conditioning treatments, the sheep also received two acute cold exposures (-20 degrees C, 4 m.p.h. wind for 2-8 hr) 1 week apart. Some of these sheep and a fourth (control) group, were subsequently re-shorn and slowly cooled to +8 degrees C.2. Resting metabolism and the metabolic response to cooling (both inferred from heart rates) were increased by previous chronic cold treatment. Resistance to body cooling (measured during acute cold exposure) was generally increased by both chronic and acute cold, and non-shivering thermogenesis was probably induced in the female sheep. These effects were defined as acclimatization.3. In contrast, cold shocks reduced the subsequent metabolic response to cold and encouraged facultative body cooling. This pattern of response (defined as habituation) therefore caused greater thermolability.4. Habituation and acclimatization were antagonistic. Habituation was removed by acute cold exposure and, conversely, acclimatization was inhibited by short cold shocks.5. There were sex differences in response but these were confounded by probable differences in insulation and in body condition (males thinner).6. It was concluded that the induction of different forms of adaptation depended on the length, severity and frequency of cold exposures. Habituation to whole body cold exposure apparently involved central nervous system centres normally receiving peripheral cold stimuli.

Acclimatization↗