Streetly A.,Kings College London |
Latinovic R.,Kings College London |
Henthorn J.,Central Middlesex Hospital
Journal of Clinical Pathology | Year: 2010
Aims: The overall aim of the new national newborn programme is to identify infants at risk of sickle cell disease to allow early detection and to minimise deaths and complications. Methods: Universal screening for sickle cell disease was introduced in England between September 2003 and July 2006. The 13 newborn laboratories each screen between 25 000 and 110 000 babies a year using the existing dried bloodspot cards. The specified conditions to be screened for include sickle cell anaemia (Hb SS), Hb SC disease, Hb S/β thalassaemia, Hb S/DPunjab and Hb S/OArab. Data are reported on screening results by ethnic group and geographical area. Results: The prevalence of screen positive results across England is 1:2000. There is a 25-fold variation by geographical area. African babies make up 61% of all screen positive results despite representing only 4% of total births. Combined carrier rates vary widely by ethnicity, from 1.85 per 1000 (1:540) in 'White British' to 145 per 1000 (1:7) in 'African' babies. Refusal rates for screening show variation by ethnicity. Conclusions: These results provide useful information both about the frequency of these conditions and the carrier state and their geographic and ethnic distribution across England. This can be used to refine counselling information and are also useful to target and plan services and public information.
Lingam R.K.,Northwick Park Hospital |
Daghir A.A.,Central Middlesex Hospital |
Nigar E.,Northwick Park Hospital |
Abbas S.A.B.,Northwick Park Hospital |
Kumar M.,Northwick Park Hospital
British Journal of Oral and Maxillofacial Surgery | Year: 2011
Pleomorphic adenoma is the single most common salivary gland tumour. It has a diverse histological presentation because of varying proportions of different epithelial and mesenchymal elements, and presents clinically and radiologically in various ways as it occurs at many different sites in the head and neck region. The choice of imaging is influenced by its site and size, and a range of options for treatment includes both operation and radiotherapy. The tumour can also present in various ways if it is not removed or treated successfully. © 2009 The British Association of Oral and Maxillofacial Surgeons.
Salam A.,Central Middlesex Hospital
BMJ case reports | Year: 2013
Pulmonary embolism (PE) is a common and life-threatening condition. The British Thoracic Society PE guidelines state that PE is reliably excluded in patients with low-intermediate clinical probability and a negative D-dimer. We are reporting the case of a 47-year-old lady, taking tranexamic acid for menorrhagia, who presented with shortness of breath and was diagnosed with extensive bilateral PE. She had a low clinical risk of PE as determined by her Wells score, and a subsequent negative D-dimer. This patient's D-dimer value of 15 ng/ml (HemosIL DD HS assay) was the lowest associated with any CT pulmonary angiogram (n=1645) recorded at our trust over a 2-year period. This lady was successfully treated with a heparin infusion and warfarin. No further thromboembolic events had occurred by 18-month follow-up. To our knowledge, this is the first case report to describe tranexamic acid causing an extremely low false-negative D-dimer masking PE.
Kamath M.,Central Middlesex Hospital
BMJ case reports | Year: 2013
Syphilis is a contagious sexually transmitted infection notable for its complex array of systemic presentations. It is caused by the spirochaete Treponema pallidum and although once considered to be a largely historical condition in the UK, the recent rise in incidence makes syphilis increasingly relevant when considering unusual presentations in at-risk patients. The disease has three stages: primary, secondary and tertiary. The tertiary stage is associated with a plethora of neurological features ranging from psychosis to seizure caused by direct invasion of the spirochaete into the central nervous system. Here we describe the case of a 45-year-old man presenting with tonic clonic seizures on a background of balance and visual problems. Following normal examination and routine investigations further serology confirmed a diagnosis of neurosyphilis. The patient was started on appropriate treatment and made an excellent clinical recovery.
Katsarou A.,Central Middlesex Hospital
BMJ case reports | Year: 2010
A young man with bipolar disorder was admitted in a coma. Cerebral oedema secondary to severe hyponatraemia was implicated. This was due to self-induced water intoxication. He developed rhabdomyolysis, a massive creatine kinase (out of proportion to longstanding antipsychotic medication) and acute renal failure. In the intensive care unit, hyponatraemia was corrected, and following appropriate fluid resuscitation, with forced alkaline diuresis, the rhabdomyolysis and renal function normalised, averting renal support. While a full recovery ensued, the persisting risk factors for hyponatraemia, that is polydipsia, and its association with rhabdomyolysis, increased the chances of a recurrence. Closely supervised regulation of his water intake, and monitoring of antipsychotic efficacy (for biochemical homeostatsis) are essential for secondary prevention. Rhabdomyolysis is a rare complication of hyponatraemia. When associated with psychogenic polydipsia, the acute and chronic management are challenging. Vaptans, which are aquaretics, that preferentially prevent renal tubular water reabsorption, may be beneficial in this situation.