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Biomedical subjects

M Dalzell

Publications and source records attributed to M Dalzell.

6 recordsLinked to original sources
PubMed2003

Unusual presentation of three siblings with familial heterozygous hypobetalipoproteinaemia.

UNLABELLED: We describe three siblings with the unusual presentation of manifest steatorrhoea and vitamin E deficiency mimicking homozygous familial hypobetalipoproteinaemia (FHBL) but whose lipid profile (cholesterol and ApoB) was consistent with heterozygous FHBL. Upper gastrointestinal endoscopy and small intestinal biopsy were normal. We discuss the diagnosis with reference to the relevant literature. CONCLUSION: although rare, familial hypobetalipoproteinaemia should be considered among the causes of manifest steatorrhoea in childhood even without evidence of failure to thrive. Dietary restriction of fat and high dose vitamin E supplementation improves quality of life by reducing stool frequency and may prevent or delay neurological complications.

Adolescent↗
PubMed1999

Cow's milk enteropathy: surgical pitfalls.

BACKGROUND: Cow's milk-induced intestinal bleeding is a well-recognized cause of rectal bleeding in infancy. The authors report on 5 older children who presented with either visible rectal bleeding or profound anemia associated with occult intestinal bleeding secondary to cow's milk enteropathy. METHODS: Five children (3 boys and 2 girls) aged between 20 months and 9 years were referred for further investigation of gastrointestinal bleeding. Two had been investigated previously on multiple occasions, and both had undergone laparotomies with negative results. Further investigations showed evidence of allergic colitis in 3 detected only on proximal colonic biopsy findings. RESULTS: In all cases, bleeding resolved completely after instituting a cow's milk-free diet. Two of the patients subsequently have undergone a cow's milk challenge leading to prompt recurrence of symptoms, which again resolved after simple dietary manipulation. CONCLUSIONS: Cow's milk enteropathy may cause overt rectal bleeding or profound anemia from occult intestinal bleeding even in older children. Histological abnormalities in such cases may be confined to the proximal colon. After appropriate investigation, a trial of cow's milk exclusion should always be considered before laparotomy for obscure, chronic gastrointestinal bleeding in children.

Child, Preschool↗
PubMed1996

Human umbilical vein endothelial cells possess binding sites for the globular domain of C1q.

Binding sites for both the collagen-like and globular domains of C1q have been described on a variety of cell types. HUVEC were previously shown to express the 60- to 67-kDa receptor recognizing the collagen-like domain of C1q. This study demonstrates the presence of a distinct 28- to 33-kDa HUVEC protein (gC1qR) that interacts with the globular head domain of C1q. Polyclonal Abs raised against the Raji cell gC1qR partially inhibited HUVEC interaction with immobilized C1q and recognized a 28- to 33-kDa protein on Western blots. The Ab also reacted strongly with poly-L-lysine-immobilized, glutaraldehyde-fixed, intact HUVEC in ELISA assays. No significant difference in reactivity was noted if HUVEC were permeabilized with 0.2% Triton X-100. However, unfixed HUVEC grown on gelatin-coated microtiter wells to 80% confluence failed to express significant amounts of gC1qR Ag. Quantitation of HUVEC gC1qR by gel scanning suggested the presence of 5.7 +/- 3.8 x 10(6) molecules/cell (mean +/- SD; n = 4). A quantitative sandwich ELISA procedure, however, detected only 3.7 +/- 0.6 x 10(5) gC1qR molecules/cell (mean +/- SD; n = 4), consistent with previously described gC1qR multimerization. The capacity of endothelial cells to recognize both the collagen-like and globular domains of C1q via distinct binding sites may have implications for the role of C1q in vascular inflammatory and thrombotic lesions.

Binding Sites↗
PubMed1993

Bilateral vocal cord paralysis in Williams syndrome.

Williams syndrome was first described in 1961 (Williams et al. 1961) and is a well-recognised clinical syndrome characterised by growth deficiency, learning difficulties and a typical facies. We describe a 9-year-old girl with classical features of Williams syndrome who presented with acute vocal cord paralysis for which no other cause was found.

Abnormalities, Multiple↗