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Biomedical subjects

N P Burrows

Publications and source records attributed to N P Burrows.

At least 19 recordsLinked to original sources
PubMed2006

Smoking related COPD and facial wrinkling: is there a common susceptibility?

BACKGROUND: Cigarette smoking causes accelerated facial wrinkling and predisposes to chronic obstructive pulmonary disease (COPD). However, it has long been recognised that there is a subgroup of susceptible smokers who are at increased risk of developing airflow obstruction. We have tested the hypothesis that there is a common susceptibility for the development of COPD and facial wrinkling in cigarette smokers. METHODS: One hundred and forty nine current and ex-smokers were recruited from a family based study of COPD genetics, 68 (45.6%) of whom fulfilled the definition of COPD. 124 (83.2%) had no or minor facial wrinkling (Daniell /=IV). Generalised estimating equations were used to adjust for familial correlations between related individuals and the potential confounding effects of age and pack years smoked. RESULTS: Forced expiratory volume in 1 second (FEV(1)) was significantly lower in those with wrinkles than in those without (mean difference in FEV(1) % predicted -13.7%, 95% CI -27.5 to 0.0, p = 0.05) and facial wrinkling was associated with a substantially increased risk of COPD (adjusted OR 5.0, 95% CI 1.3 to 18.5, p<0.02). The Daniell score correlated with the extent of emphysema on the CT scan (p<0.05) and facial wrinkling was also associated with a greater risk of more extensive emphysema (adjusted OR 3.0, 95% CI 1.0 to 9.3, p = 0.05). CONCLUSION: Facial wrinkling is associated with COPD in smokers, and both disease processes may share a common susceptibility. Facial wrinkling in smokers may therefore be a biomarker of susceptibility to COPD.

Disease Susceptibility↗
PubMed2005

Transient bullous dermolysis of the newborn in three generations.

Transient bullous dermolysis of the newborn (TBDN) is a rare form of dystrophic epidermolysis bullosa (DEB) that presents with neonatal skin blistering but which usually improves markedly during early life or even remits completely. Skin biopsies reveal abnormal intraepidermal accumulation of type VII collagen which results in poorly constructed anchoring fibrils and a sublamina densa plane of blister formation. The reason for the spontaneous clinical improvement is not known, but there is a gradual recovery in type VII collagen secretion from basal keratinocytes to the dermal-epidermal junction, with subsequent improvement or correction of anchoring fibril morphology. In this report, we describe TBDN occurring in three generations of the same family. Blistering occurred only during the first few months after birth, and all affected individuals were found to have a heterozygous glycine substitution mutation in exon 45 of the type VII collagen gene, COL7A1, designated G1522E. This mutation represents the third report of a pathogenic COL7A1 mutation in TBDN. Despite limited understanding of the disease mechanism in TBDN, this distinct form of DEB is important to recognize as it typically has a benign and self-limiting course. However, not all cases of DEB associated with intraepidermal type VII collagen are 'transient'. Genetic counselling in such patients therefore should be guarded until the pathophysiology of TBDN is better understood.

Adult↗
PubMed2004

Case 1.

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Female↗
PubMed2003

Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency.

Germline mutations of the fumarate hydratase (FH, fumarase) gene are found in the recessive FH deficiency syndrome and in dominantly inherited susceptibility to multiple cutaneous and uterine leiomyomatosis (MCUL). We have previously reported a number of germline FH mutations from MCUL patients. In this study, we report additional FH mutations in MCUL and FH deficiency patients. Mutations can readily be found in about 75% of MCUL cases and most cases of FH deficiency. Some of the more common FH mutations are probably derived from founding individuals. Protein-truncating FH mutations are functionally null alleles. Disease-associated missense FH changes map to highly conserved residues, mostly in or around the enzyme's active site or activation site; we predict that these mutations severely compromise enzyme function. The mutation spectra in FH deficiency and MCUL are similar, although in the latter mutations tend to occur earlier in the gene and, perhaps, are more likely to result in a truncated or absent protein. We have found that not all mutation-carrier parents of FH deficiency children have a strong predisposition to leiomyomata. We have confirmed that renal carcinoma is sometimes part of MCUL, as part of the variant hereditary leiomyomatosis and renal cancer (HLRCC) syndrome, and have shown that these cancers may have either type II papillary or collecting duct morphology. We have found no association between the type or site of FH mutation and any aspect of the MCUL phenotype. Biochemical assay for reduced FH functional activity in the germline of MCUL patients can indicate carriers of FH mutations with high sensitivity and specificity, and can detect reduced FH activity in some patients without detectable FH mutations. We conclude that MCUL is probably a genetically homogeneous tumour predisposition syndrome, primarily resulting from absent or severely reduced fumarase activity, with currently unknown functional consequences for the smooth muscle or kidney cell.

Amino Acid Metabolism, Inborn Errors↗
PubMed2003

Woody hands.

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Cystadenocarcinoma, Papillary↗
PubMed2003

Short-term growth and bone turnover in children undergoing occlusive steroid ('Wet-Wrap') dressings for treatment of atopic eczema.

To assess the effects of steroid wet-wrap therapy on short-term growth and bone turnover, eight prepubertal (M:F,5:3) children with a median age of 5.1years (range 3.3-8.8) were studied over a 2-week period prior to therapy and at 2-week intervals during therapy. Short-term growth was assessed by measuring lower leg length velocity (LLLV) by knemometry and bone and collagen turnover was assessed by urinary deoxypyridinoline crosslink excretion corrected for creatinine excretion (DPD). Median duration of study during occlusive dressings was 12 weeks (range 2-18). Topical beclomethasone dipropionate diluted 1:10 or 1:4 in white soft paraffin was applied under tubular (Tubifast) bandages in 7/8 children. Median LLLV before and during therapy were 0.43 mm/week (10(th),90(th) centile; 0.0,0.7) and 0.42 mm/week (10(th),90(th) centile; -0.35,1.01), respectively (not significant). Median DPD before and during therapy were 25.9 nmol/l/creatinine (10(th),90(th) centile; 20.8, 33.0) and 26.3 nmol/l/creatinine (10(th),90(th) centile; 21.7, 34.1) respectively (not significant). Non-invasive assessment of the effects of steroid wet-wrap therapy can be performed in children with eczema. These preliminary results show no substantial growth promoting or adverse effects of therapy.

Bone Remodeling↗
PubMed2001

Dissecting folliculitis of the scalp with marginal keratitis.

We describe a young man with dissecting folliculitis of the scalp, who subsequently developed marginal keratitis. We are unaware of any previous reports of this association. The aetiology of dissecting folliculitis is thought to relate to abnormal follicular occlusion with subsequent suppuration, although an infective process has never been established. Marginal keratitis is postulated, but not proven, to be caused by an enhanced immune response to Staphylococcus aureus antigens. We suggest that a similar abnormal response to infection may be important in these two conditions. This case also highlights ocular complications which may occur in patients with dissecting folliculitis.

Administration, Topical↗
PubMed2001

Elastosis perforans serpiginosa and associated disorders.

We report elastosis perforans serpiginosa (EPS) arising in three patients with Ehlers-Danlos syndrome, osteogenesis imperfecta and Down's syndrome. These cases illustrate some of the rare but well-recognized disease associations with EPS. The other causes of EPS are reviewed.

Adolescent↗