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Biomedical subjects

I A Auchterlonie

Publications and source records attributed to I A Auchterlonie.

13 recordsLinked to original sources
PubMed2002

Rotavirus gastroenteritis and central nervous system (CNS) infection: characterization of the VP7 and VP4 genes of rotavirus strains isolated from paired fecal and cerebrospinal fluid samples from a child with CNS disease.

Rotavirus RNA was detected in the cerebrospinal fluid (CSF) of a child with central nervous system disease symptoms associated with rotavirus gastroenteritis. The rotavirus isolates from the fecal and CSF samples were genotyped as G1P[8]. Sequence analysis of the VP7 and VP4 proteins derived from the fecal and CSF samples were remarkably similar to each other and to G1P[8] rotavirus strains commonly circulating in the community and associated with gastroenteritis.

Antigens, Viral↗
PubMed1999

Partial lipodystrophy presenting with myopathy.

A girl with partial lipodystrophy is described presenting with muscle weakness and developmental delay several years before lipoatrophy became apparent. The patient subsequently developed epilepsy, fatty liver, secondary amenorrhoea, hirsutism, insulin-resistant diabetes mellitus, hyperlipidaemia, and hypothyroidism. She remains weak with poor exercise tolerance. This case illustrates an atypical presentation of the Barraquer-Simon syndrome.

Adolescent↗
PubMed1992

Cardiofaciocutaneous syndrome with new ectodermal manifestations.

We describe a 7 year old girl whose features satisfy the diagnosis of cardiofaciocutaneous syndrome. Her ectodermal features consist of fine, sparse hair, thin, opalescent nails, finger tip pads, generalised pigmentation of the skin, but no hyperkeratosis. Skin pigmentation and finger tip pads have not been previously reported in this syndrome. Twenty-two cases of CFC have been described but there is debate as to whether it is distinct from Noonan syndrome.

Abnormalities, Multiple↗
PubMed1991

Haemolytic uraemic syndrome in the defined population of northeast of Scotland.

Twenty seven cases of haemolytic-uraemic syndrome (HUS) were admitted to the Royal Aberdeen Children's Hospital between 1978 and 1989. All cases were from the defined childhood population of the Grampian region of Northeast of Scotland. Thirteen cases were admitted during the 2-year period 1987-1988 (Group 1). Of the 13 cases, 9 (Group 1 a) were admitted within the 11-month period between August 1987 and June 1988, and were from a small area (7 miles radius) within and around the City of Aberdeen. Their mean age was 7.1 years. Twelve cases of HUS were admitted between 1978 and 1986 and 2 cases were admitted in 1989 (total 14 cases; Group 2). Mean age was 3.0 years with no geographical clustering. The average annual incidence for group 2 was 1.25 per 100,000 children 0-16 years old.

Adolescent↗
PubMed1991

Rheumatological manifestations of the leukaemias and graft versus host disease.

Bone and joint involvement in the leukaemias is discussed. Particular emphasis is placed upon osteoarticular presentations which may predate the haematological changes or divert attention from the primary pathology. A description of acute and chronic graft versus host disease is presented with particular emphasis on the rheumatological manifestations.

Bone Diseases↗
PubMed1985

Selective vitamin B12 malabsorption without anaemia but with profound failure to thrive.

A 7-month-old boy presented with vomiting and failure to thrive associated with proteinuria, methylmalonic aciduria and macrocytosis, but without anaemia. Plasma vitamin B12 levels were normal by a radio-dilution method. He was treated as an inborn error of metabolism with intramuscular cyanocobalamin and a low protein diet. However when treatment was withdrawn he remained well for 11 months before relapsing with vomiting and weight loss. Re-investigation again showed methylmalonic aciduria, but the haemoglobin was low and plasma vitamin B12 levels by a specific method showed them to be reduced. Studies of vitamin B12 absorption showed the picture of selective malabsorption. He was started on regular cyanocobalamin injections.

Child, Preschool↗
PubMed1985

Alcohol intoxication, an underdiagnosed problem?

To show that alcohol intoxication may be underdiagnosed in childhood, we describe four patients in whom it was not suspected until blood alcohol concentrations were measured as part of a toxicology screen.

Alcoholic Intoxication↗
PubMed1985

Pre-pubertal gynaecomastia as the presenting feature of late-onset 21-hydroxylase deficiency.

We describe an 8-year-old boy with pre-pubertal gynaecomastia as the presenting feature of late-onset 21-hydroxylase deficiency, an association not previously reported. Although absolute oestrogen levels were not higher than previously described in 21-hydroxylase deficiency, the gynaecomastia may have arisen through a relative disproportion of the C18 to C19 steroids.

Adrenocorticotropic Hormone↗
PubMed1983

A complex double translocation involving four chromosomes and five breakpoints in a child with mild mental retardation.

A 6-year-old boy with speech delay and mild mental retardation (IQ 82) was found to have a complex double translocation involving four chromosomes and a total of five breakpoints, two being on the same arm. This resulted in the karyotype 46,XY,t(2;4;7)(7;8)(q14;q31;q11q22;q13). As far as the authors are aware this is the first time that such a complex double translocation has been reported. Both parents had normal karyotypes.

Child↗