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Biomedical subjects

G L Briars

Publications and source records attributed to G L Briars.

8 recordsLinked to original sources
PubMed1997

Mutations in the granulocyte colony-stimulating factor receptor gene in patients with severe congenital neutropenia.

Previously, nonsense mutations in the gene encoding the granulocyte colony-stimulating factor receptor (G-CSF-R) have been described in three patients with severe congenital neutropenia (SCN) (Proc Natl Acad Sci USA 1994; 91: 4480; New Engl J Med 1995; 333: 487). The mutations resulted in the truncation of the carboxy-terminal region of G-CSF-R essential for transduction of maturation signals. Two of these patients developed acute myeloblastic leukemia (AML). We present the results of a search among 20 additional cases of congenital neutropenia (CN) and SCN for the presence of mutations in the cytoplasmic domain of G-CSF-R. This series includes patients with familial and nonfamilial forms of CN and SCN. Mutations in the G-CSF-R gene were found in two new SCN cases. These mutations were nonsense mutations, located in the same cytoplasmic region of G-CSF-R as those found earlier, resulting in the truncation of the C-terminus. Both of these patients developed AML. None of the other patients showed clinical symptoms or cytogenetic features indicative of AML or progression to leukemia. The analysis in this extended series of patients thus has revealed five SCN cases with G-CSF-R mutations, four of whom developed AML. These results add support to the notion that mutations in the G-CSF-R gene, affecting the maturation signaling function of the receptor, define a distinct subgroup of SCN with increased susceptibilty to AML.

Adolescent↗
PubMed1997

Colonoscopy preparation in children: safety, efficacy, and tolerance of high- versus low-volume cleansing methods.

BACKGROUND: The use of large-volume electrolyte balanced solutions as preparation for colonoscopy often results in poor patient compliance and acceptance. The tolerance, safety, and efficacy of high-versus low-volume colon-cleansing methods as preparation for colonoscopy in children were compared by randomized operator-blinded trial. METHODS: Twenty-nine children ages 3.6-14.6 years had either high-volume nasogastric balanced polyethylene glycol electrolyte lavage (20 ml/kg/ h) until the effluent was clear (n = 15), or two oral doses of sodium phosphate solution (22.5-45 ml) separated by oral fluid intake (n = 14). RESULTS: Both preparations were equally effective. The low-volume preparation was better tolerated and caused less discomfort that the high-volume preparation, judging by serial nurse observations. The incidence of abdominal symptoms, diarrhea, sleep disturbance, and vomiting was not significantly different between the two groups. Both groups had a small reduction in mean hematocrit and serum calcium levels. The sodium phosphate preparation caused increases in mean serum sodium concentrations from 140 to 145 mmol/L and serum phosphate concentrations from 1.41 to 2.53 mmol/L. Ten hours after the commencement of the preanesthetic fast, these concentrations had returned to normal. CONCLUSIONS: There are advantages in terms of tolerance, discomfort, and case of administration with acceptable colonic cleansing with the use of the less-invasive oral sodium phosphate low-volume colon-cleansing preparation in children. Safe use requires ensuring an adequate oral fluid intake during the preparation time and avoidance of use in patients with renal insufficiency.

Adolescent↗
PubMed1996

Estimating the surface area of the human body.

A number of formulae have been suggested for estimating the surface area (SA) of a human body from measurements of height H and weight W. Most of these are of the same functional form, namely InSA = a(0) + a1lnH + a2lnW in logarithmic terms, but have quite different values of the coefficients. We show that they are all essentially equivalent in view of the strong linear relation between lnH and lnW. The formula due to Gehan and George, in which a(0) = -3.751, a1 = 0.422 and a2 = 0.515 if height is measured in cm, weight in kg and surface area in m2, is based on a sample of 401 surface area measurements and has coefficients estimated by least squares. It should be the medical standard. Moreover, by extending their analysis, it is possible to derive standard errors of surface area estimates and to construct confidence and prediction intervals. Unfortunately, in clinical practice a relation based on just nine subjects, and with coefficients determined in an ad hoc way, is still in common use.

Adolescent↗
PubMed1996

Dominantly inherited severe congenital neutropenia.

We report a family with autosomal dominant inherited neutropenia, characterized by maturation arrest of neutrophil precursors and hypergammaglobulinaemia. A mother, two children by her first marriage and two by her second were affected. They suffered recurrent lung, skin, ear and periodontal infections. Four have had appendicitis, and three mastoiditis. One died at 7 years from neutropenic enterocolitis, and a second at 10 years from small bowel infarction. Four who were treated with rhG-CSF responded to 5-14 micrograms/kg/day with normal neutrophil counts. Daily therapy has maintained neutrophil counts above 1000 x 10(9) per litre. Elective appendicectomy and long term G-CSF therapy are indicated.

Adolescent↗
PubMed1995

Faecal interleukin-8 and tumour necrosis factor-alpha concentrations in cystic fibrosis.

Interleukin-8 (IL-8) and tumour necrosis factor-alpha (TNF-alpha) concentrations were measured in faecal samples from nine patients with cystic fibrosis and nine healthy age matched controls. The patients were assessed with Shwachman score, apparent energy absorption, pancreatic enzyme dosage, simple spirometry, and presence of pseudomonal colonisation. Median (range) wet stool IL-8 and TNF-alpha concentrations in patients were 32,113 pg/g (21,656-178,128) and 3187 pg/g (368-17,611) respectively, compared with < 43.5 pg (IL-8)/g (< 22-4079) and 99 pg (TNF-alpha)/g (< 0.26-231) in controls. IL-8 concentration was negatively correlated with Shwachman score (r = -0.79) and pancreatic enzyme dosage (r = -0.77), but not with energy absorption. Seven patients were mature enough to cooperate with spirometry. Their IL-8 concentrations correlated with percentage predicted forced expiratory volume in one second (r = -0.78). IL-8 concentration was greater in four patients with, than five without, established pseudomonal colonisation: median difference 134,583 pg/g. TNF-alpha concentration was not correlated with measures of disease severity. Faecal IL-8 concentration might reflect the severity of pulmonary inflammation in cystic fibrosis and could provide an easily obtainable marker of disease activity.

Adolescent↗
PubMed1994

Surface area estimation: pocket calculator v nomogram.

Three sheets of 10 surface area determinations were completed by 10 subjects using a nomogram and a formula. The formula was faster to calculate, 4.27 v 7.6 minutes for each sheet, and resulted in fewer serious errors (three v 30 errors).

Body Surface Area↗