Altered Capicua expression drives regional Purkinje neuron vulnerability through ion channel gene dysregulation in spinocerebellar ataxia type 1.

Selective neuronal vulnerability in neurodegenerative disease is poorly understood. Using the ATXN1[82Q] model of spinocerebellar ataxia type 1 (SCA1), we explored the hypothesis that regional differences in Purkinje neuron degeneration could provide novel insights into selective vulnerability. ATXN1[82Q] Purkinje neurons from the anterior cerebellum were found to degenerate earlier than those from the nodular zone, and this early degeneration was associated with selective dysregulation of ion channel transcripts and altered Purkinje neuron spiking.

A consultant-led anticoagulation review of all patients in one clinical commissioning group to prevent atrial fibrillation related stroke.

Objective: Ensuring patients with Atrial fibrillation (AF) are appropriately anticoagulated across NHS Bedfordshire Clinical Commissioning Group (BCCG) with the primary goal of reducing AF-related strokes.

Methods: With Inspira Health, BCCG adopted the Primary Care Atrial Fibrillation (PCAF) Service which is led by Consultant Cardiologists. PCAF uses retrospective clinical audit to identify patients who require prospective face-to-face review on the need for anticoagulation.

Coarse fibrillatory waves in atrial fibrillation predict success of electrical cardioversion.

Background: To determine whether the presence of "coarse" fibrillatory waves (Fw) seen on surface ECGs of patients with persistent atrial fibrillation (AF) predict maintenance of sinus rhythm (SR) at 6 weeks after electrical cardioversion (ECV).

Methods: Preprocedure ECGs from 94 consecutive patients with persistent AF scheduled to undergo ECV at a single centre were classified as having coarse Fw (≥0.1 mV) or fine Fw (<0.

Warfarin-induced purple toe syndrome successfully treated with apixaban.

Purple toe syndrome is a recognised adverse effect of warfarin therapy. The literature has described resolution of the ischaemic symptoms on withdrawal of the warfarin and switching to a low molecular weight heparin alternative. We present a case of an 82-year-old man with bilateral blanching vivacious toes and a livedo-reticularis type rash developing 2 weeks after being loaded with warfarin for first detected atrial fibrillation.

Loeys-Dietz syndrome: life threatening aortic dissection diagnosed on routine family screening.

A 52-year-old man was found to have a severely dilated aortic root and a Stanford type A dissection on familial screening echocardiography, following diagnosis of a dilated aorta in his son. The dissection required urgent surgical repair. Clinical examination suggested features of Loeys-Dietz syndrome type II, and subsequent demonstration of a mutation in the TGFBR1 gene in the patient and his son confirmed the diagnosis.

A patient with tricho-rhino-phalangeal syndrome and mitral valve disease.

We describe the case of a 33 year old man with Tricho-Rhino-Phalangeal Syndrome (TRPS) and mitral valve disease. Tricho-Rhino-Phalangeal Syndrome is a rare multisystem disorder. The English literature has no record of any association with mitral valve disease which was a feature of our patient and his father both of whom were suffering from the syndrome.