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Biomedical subjects

D Bowen-Jones

Publications and source records attributed to D Bowen-Jones.

12 recordsLinked to original sources
PubMed2005

A problem with her lead weight.

An autistic patient living in a residential home presented with symptoms of weight loss and abdominal pain. On investigation, she was found to have lead poisoning from an unusual source. Her treatment proved difficult due to failure to cooperate, and a 'best-case' protocol was devised. The positive identification of a source of exposure can be difficult in a single case of exposure, but this was eventually achieved by means of stable lead isotope analysis following painstaking detective work.

Adult↗
PubMed2003

A case of hirsutism due to bilateral diffuse ovarian Leydig cell hyperplasia in a post-menopausal woman.

Hyperandrogenism in females usually results from ovarian or adrenal pathology. We present a case of virilizaton due to very rare bilateral ovarian diffuse interstitial proliferation of Leydig cells with no tumour or hilar cell hyperplasia identified. Interestingly, the case was further complicated by the finding of high levels of testosterone in one adrenal vein on selective venous sampling (SVS), resulting in an unnecessary unilateral adrenalectomy. Further sampling found high levels also in the ovarian veins, and the condition was finally cured by bilateral oophorectomy.

Journal Article↗
PubMed2003

Treatment of carbimazole-induced agranulocytosis and sepsis with granulocyte colony stimulating factor.

We present the management of agranulocytosis and neutropenic sepsis secondary to carbimazole with recombinant human granulocyte colony stimulating factor (G-CSF). A 72-year-old woman with a history of thyrotoxicosis presented with sore throat and fever two weeks after starting carbimazole. Investigations confirmed a leucopenia and neutropenia. G-CSF was used as an adjunctive therapy with discontinuation of carbimazole, barrier nursing and a broad-spectrum antibiotic regimen to treat her neutropenic sepsis. Total white cell count and neutrophil count returned to normal and she made an uneventful recovery. She was subsequently rendered euthyroid with radioiodine treatment.

Aged↗
PubMed2002

Dopamine receptor expression on human T- and B-lymphocytes, monocytes, neutrophils, eosinophils and NK cells: a flow cytometric study.

This study documents expression of dopamine (DA) receptors on leukocyte subpopulations using flow cytometric techniques to identify dopamine receptors with subtype-specific antibodies. Of the D1-like receptor family (D(1) and D(5)), only D(5) was detected, and of the D2-like receptor family (D(2), D(3) and D(4)), all dopamine receptors were detected. T-lymphocytes and monocytes had low expression of dopamine receptors, whereas neutrophils and eosinophils had moderate expression. B cells and NK cells had higher and more consistent expression. Dopamine receptors D(3) and D(5) were found in most individuals whereas D(2) and D(4) had more variable expression. D(1) was never found.

B-Lymphocytes↗
PubMed2001

Predictive genetic testing in maturity-onset diabetes of the young (MODY).

INTRODUCTION: Maturity-onset diabetes of the young (MODY) is characterized by autosomal dominant inheritance of young-onset non-insulin-dependent diabetes. It accounts for approximately 1% of Type 2 diabetes (approximately 20 000 people in the UK). Diagnostic and predictive genetic tests are now possible for 80% of MODY families. Diagnostic tests can be helpful as the diagnosis can be confirmed and the subtype defined which has implications for treatment and prognosis. However predictive genetic testing, particularly in children, raises many scientific, ethical and practical questions. METHODS: This is a case report of a family with diabetes resulting from an hepatic nuclear factor (HNF)1alpha mutation, who request a predictive test in their 5-year-old daughter. The scientific issues arising from molecular genetic testing in MODY are discussed, along with the process of genetic counselling. The views of the family and the clinical genetics team involved are presented. RESULTS: The implications of positive and negative predictive test results and the possibility of postponing the test were among many issues discussed during genetic counselling. The family remained convinced the test was appropriate for their daughter and the clinical genetics team fully supported this decision. The family, motivated by their family history of diabetes and personal experiences of the disease, wished to reduce uncertainty about their daughter's future irrespective of the result. CONCLUSIONS: This case emphasizes that decisions on predictive testing are very personal and require appropriate counselling.

Adolescent↗
PubMed1998

TNFB gene polymorphism in insulin-dependent diabetes mellitus: association with HLA-DR alleles.

A polymorphism of the TNF-beta gene can be detected by restriction digestion of a PCR product with NcoI. In this study we look at the risk associated with this polymorphism in a study of 69 insulin-dependent diabetes patients and 119 healthy controls. The risk was further characterized by comparison to the HLA type of the individual, since the TNF polymorphism is in linkage disequilibrium with HLA genes.

Alleles↗
PubMed1998

Incorrect diagnosis of diabetes mellitus in a patient with persistence of fetal haemoglobin.

A 65-year-old woman, referred to the endocrine clinic for investigation of tiredness and arthritis, was diagnosed as having diabetes on the basis of a positive family history and a raised glycated haemoglobin (HbA1) measurement. Subsequently, she was shown not to have diabetes but to have a persistently raised haemoglobin F (HbF) level. Initial assessment of HbF level by electroendosmosis demonstrated a normal HbF level but high values were confirmed using HPLC. Thalassaemia was excluded following DNA analysis. This case illustrates the importance of a glucose tolerance test following WHO criteria for the diagnosis of diabetes and emphasises that HbA1 is not a diagnostic test for diabetes.

Aged↗