Assessing and addressing cardiovascular risk in adults with Turner syndrome.

UNLABELLED: Turner syndrome (TS), the result of a structurally abnormal or absent X chromosome, occurs in one in 2 000 live born females. The phenotype is highly variable, but short stature and gonadal dysgenesis are usually present. The main objective in adults with TS is health surveillance, but TS still causes a reduction in life expectancy of up to 13 years, with cardiovascular disease, congenital or acquired, as the major cause of an early death. While it has been established that all women with TS should undergo in-depth cardiovascular examination at diagnosis, advice on the cardiovascular management of women with TS is limited. Here, we provide a summary of our current practice within a multidisciplinary team, supported by our expertise in various aspects of cardiovascular risk management, and the evidence from research where it is available, with the aim of providing optimal support to our patients with TS. BACKGROUND: A dedicated Adult Turner Clinic was established in South East Scotland in 2002. This gynaecology-led clinic serves a population of roughly 1·2 million and, currently, reviews around 50 women with TS annually. Referrals for adult care come from paediatrics or general practice. Following a series of individual case discussions regarding the management of more complex cardiovascular problems, we have assembled a dedicated multidisciplinary group to determine a timely cardiovascular screening strategy, a basis for specialist referral, and appropriate hypertension management. This team now includes a paediatric endocrinologist, gynaecologist, cardiologist (with an interest in inherited disorders), vascular radiologist and hypertension specialist. Here, we review the literature on cardiovascular disease in women with TS and, make recommendations, based on relatively limited high-quality evidence, together with our experience, on the optimal timing of cardiovascular screening.

Potentially fatal paracetamol overdose and successful treatment with 3 days of intravenous N-acetylcysteine regime--a case report.

INTRODUCTION: Paracetamol overdose is the most common drug overdose worldwide. To our knowledge, the maximum number of paracetamol tablets ingested reported in the literature is 45 g. CLINICAL PICTURE: We describe a 21-year-old patient who acutely ingested 120 tablets, each 500 mg paracetamol (i.e., 60 g equivalent to 1200 mg/kg body weight) in a suicidal attempt. Our patient also drank 2 bottles of codeine-based cough syrup equivalent to 360 mg of codeine. At 6 hours post ingestion, her serum paracetamol level was 207 mg/L. The poor prognostic factors for paracetamol overdose in our patient included massive paracetamol ingestion (confirmed by blood levels), codeine co-ingestion and elevated serum amylase (189 U/L). TREATMENT: She was treated with a 3-day modified regimen of intravenous N-acetylcysteine. OUTCOME: The liver function tests and the prothrombin time remained normal over the second and third day of admission and the patient was discharged without complications on the fifth day. CONCLUSION: From this experience we feel that in very severe paracetamol poisoning, a modified regime of intravenous N- acetylcysteine for 3 days is safe and efficacious.