What Do Transgender Patients Teach Us About Idiopathic Intracranial Hypertension?

Idiopathic intracranial hypertension (IIH), a condition of raised intracranial pressure, is characterised by headaches and visual disturbances. Its pathogenesis is currently unknown; however, dysregulation of androgens may be implicated. Here, the authors present a case of a 22-year-old patient undergoing female-to-male (FTM) gender reassignment who developed IIH shortly after commencing testosterone therapy. This interesting case presents the possibility of androgens having a pathogenic role in IIH.

Cerebrospinal fluid and lumbar puncture: a practical review.

Cerebrospinal fluid is vital for normal brain function. Changes to the composition, flow, or pressure can cause a variety of neurological symptoms and signs. Equally, disorders of nervous tissue may alter cerebrospinal fluid characteristics. Analysis of cerebrospinal fluid can provide information on diagnosis, may be therapeutic in certain conditions, and allows a research opportunity into neurological disease. However, inappropriate sampling, inaccurate technique, and incomplete analysis can contribute to significant patient morbidity, and reduce the amount of accurate information obtained. In this article, we will review how cerebrospinal fluid is produced, circulated, and resorbed. We will also review lumbar puncture technique, equipment, and cerebrospinal fluid analysis. We also discuss how to minimize the risks and address the complications associated with lumbar puncture.

Established and emerging therapies for Huntington's disease.

Huntington's disease is a genetic, neurodegenerative disorder causing cell dysfunction prior to cell death. Mechanisms that underlie the pathological changes continue to be elucidated, which in turn increases the number of potential therapeutic targets which have the ability to reverse or prevent further cell damage. As well as cell protection strategies, cell replacement techniques have been developed with the aim of replacing dead cells and restoring functional circuits. This review describes therapies used in clinical practice, therapies that have shown promise in experimental models either at the genetic or molecular level, and therapies that are subject to human clinical trials. It is likely that any successful therapy in clinical practice will involve a number of different approaches aimed at different targets in order to achieve both cell protection and cell replacement.

Implantation of a cardioverter-defibrillator in a patient with cardiac amyloidosis.

BACKGROUND: A 49-year-old woman presented with chest pain of 10 days' duration. Initial physical examinations and laboratory investigations were normal. The patient received symptomatic treatment with beta-blockers, which continued following normal findings on coronary angiogram. About 7 months later the patient developed ventricular arrhythmias, with clinical evidence of left ventricular heart failure. Her arrhythmia symptoms persisted despite pharmacological therapy with atenolol, carvedilol and amiodarone. INVESTIGATIONS: Physical examination, electrocardiography, laboratory testing, serologic testing, exercise-tolerance testing, coronary angiography, chest radiography, cardiac MRI, tongue biopsy, bone-marrow biopsy, CT scan, iodine-123-labeled serum-amyloid-P-component scintigraphy. DIAGNOSIS: Systemic primary amyloidosis (AL amyloidosis), with predominant cardiac involvement. MANAGEMENT: Pharmacological antiarrhythmic therapy and cardioverter-defibrillator implantation. Chemotherapy was planned but, despite intervention, the patient died before this treatment could begin.