Publications by authors named "Heyningen C"

Article Synopsis
  • * A study was conducted with 164 patients showing that those with PCSK9 mutations had higher LDL cholesterol and a significant risk of coronary artery disease compared to others with different mutations.
  • * A clinical trial demonstrated that alirocumab significantly reduced LDL cholesterol levels in these patients, showing a 62.5% reduction in just 2 weeks, highlighting its effectiveness and tolerability for managing high cholesterol in PCSK9 mutation carriers.
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Objective: Serum cardiac troponins can be elevated in acute coronary syndromes (ACS) and other non-ACS conditions. We investigated the usefulness of a prediction score model comprising clinical variables to distinguish patients with ACS from other non-ACS conditions.

Methods: Two independent, non-randomized observational cohorts (groups 1 and 2) were examined, comprising consecutive patients who were admitted to a university teaching hospital and found to have a raised serum troponin T level (>or=0.

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A 47-year-old man presented with abdominal pain, neck stiffness, severe transient hypertension and unusually dark urine. Cerebrospinal fluid investigations and angiography confirmed the diagnosis of a subarachnoid haemorrhage. Porphyrin studies on the patient and his family demonstrated that the family has acute intermittent porphyria.

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Objective: To investigate the frequency, diagnosis and outcome of patients admitted to hospital with acute coronary syndrome (ACS) or other conditions associated with raised levels of cardiac troponin T.

Design: Observational study.

Setting: A large university hospital.

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This eighth best practice review examines four series of common primary care questions in laboratory medicine: (i) sodium abnormalities; (ii) faecal occult blood testing; (iii) warfarin management; and (iv) sputum cytology in diagnosis of bronchopulmonary malignancy. The review is presented in question-answer format, referenced for each question series. The recommendations represent a précis of guidance found using a standardised literature search of national and international guidance notes, consensus statements, health policy documents and evidence-based medicine reviews, supplemented by Medline Embase searches to identify relevant primary research documents.

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Objective: To determine the characteristics, causes and outcome of severe hyponatraemia (< 125 mmol/l) in hospitalized patients, and to identify mortality predictors.

Design: Prospective case controlled study of sequentially presenting patients with a serum sodium (Na) < 125 mmol/l.

Patients And Methods: One hundred and four hyponatraemic and 104 randomly chosen normonatraemic (Na > 135 mmol/l) adult patients were studied.

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Aims: To evaluate the assessment and management of severe hyponatraemia in a large teaching hospital.

Methods: Inpatients with serum sodium <125 mmol/l were identified prospectively from a laboratory database over a six month period. Notes were examined and data extracted.

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Objective: Analysis of long-term (30 years) clinical history and response to treatment of 13 patients with the D374Y mutation of PCSK9 (PCSK9 patients) from 4 unrelated white British families compared with 36 white British patients with heterozygous familial hypercholesterolemia attributable to 3 specific mutations in the low-density lipoprotein (LDL) receptor gene (LDLR) known to cause severe phenotype.

Methods And Results: The PCSK9 patients, when compared with the LDLR patients, were younger at presentation (20.8+/-14.

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A case is presented of a patient who developed acute hepatitis during cholesterol-lowering treatment with atorvastatin and ezetimibe. Further investigations reveal a probable drug-induced autoimmune hepatitis, and ezetimibe is considered to be the most likely causal agent. This case is the first report of an autoimmune hepatitis associated with ezetimibe therapy.

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The use of colchicine, a treatment for acute gout and familial Mediterranean fever, is limited by its toxicity. A relatively low dose of colchicine may be fatal. After a colchicine overdose, monitoring should include 6-12 hourly serum troponin measurements.

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Aim: To investigate the relationship between 2D:4D and testosterone in men attending an infertility clinic and men drawn from the general population.

Methods: Data on 2D:4D and testosterone from two samples were collected: (1) 43 men attending an infertility clinic, and (2) 51 men drawn from the general population without regard to fertility.

Results: In sample (1) there were negative associations between 2D:4D and testicular function, and men with lower 2D:4D in their right compared to left hand had higher testosterone levels than men with higher 2D:4D in their right compared to left hand.

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Opposing parasympathetic and sympathetic signals determine the autonomic output of the brain to the body and the change in balance over the sleep-wake cycle. The suprachiasmatic nucleus (SCN) organizes the activity/inactivity cycle and the behaviors that go along with it, but it is unclear how the hypothalamus, in particular the SCN, with its high daytime electrical activity, influences this differentiated autonomic balance. In a first series of experiments, we visualized hypothalamic pre-sympathetic neurons by injecting the retrograde tracer Fluoro-Gold into the thoracic sympathetic nuclei of the spinal cord.

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