Insights on epidemiology, morbidity and mortality of Cushing's disease in Northern Ireland.

Cushing's disease is a rare condition that occurs due to an adrenocorticotrophin-producing corticotrophinoma arising from the pituitary gland. The consequent hypercortisolaemia results in multisystem morbidity and mortality. This study aims to report incidence, clinicopathological characteristics, remission outcomes and mortality in a regional pituitary neurosurgical cohort of patients diagnosed with Cushing's disease in Northern Ireland (NI) from 2000 to 2019.

A multimodality assessment of the protective capacity of statin therapy in a mouse model of radiation cardiotoxicity.

Purpose: Despite technological advances in radiotherapy (RT), cardiotoxicity remains a common complication in patients with lung, oesophageal and breast cancers. Statin therapy has been shown to have pleiotropic properties beyond its lipid-lowering effects. Previous murine models have shown statin therapy can reduce short-term functional effects of whole-heart irradiation.

Empirical treatment with parenteral acyclovir in a child with herpes simplex virus hepatitis and acute lymphoblastic leukemia.

Introduction: Hepatitis secondary to Herpes Simplex Virus (HSV) infection is a complication that often leads to fatal hepatic failure. Early treatment with the anti-viral drug, acyclovir, is life-saving. In view of the non-specific nature of the signs and symptoms associated with HSV hepatitis, diagnosis is often made late during the course of the disease; a factor that largely contributes to the high mortality rate of this treatable disease complication.

Dystrophin Exon 29 Nonsense Mutations Cause a Variably Mild Phenotype.

Background: Nonsense mutations in the dystrophin gene usually result in a severe Duchenne muscular dystrophy phenotype.

Findings: We describe a 7-year-old boy with a rare pathogenic mutation in exon 29 c.3940C>T p.

Dumbell atypical teratoid/rhabdoid tumour (AT/RT) of the cervical spine.

Spinal Atypical Teratoid/Rhabdoid Tumour (AT/RT) is a highly malignant tumour, and its prognosis is dismal especially for very young patients. In this article, we present the case of a teenage boy with AT/RT in the cervical spine and its multimodality management. A review of the literature on ATRT of the spine is also presented.

A 'second truncation' in TTN causes early onset recessive muscular dystrophy.

Mutations in the gene encoding the giant skeletal muscle protein titin are associated with a variety of muscle disorders, including recessive congenital myopathies ±cardiomyopathy, limb girdle muscular dystrophy (LGMD) and late onset dominant distal myopathy. Heterozygous truncating mutations have also been linked to dilated cardiomyopathy. The phenotypic spectrum of titinopathies is emerging and expanding, as next generation sequencing techniques make this large gene amenable to sequencing.

Clinical and genetic characterization of leukoencephalopathies in adults.

Leukodystrophies and genetic leukoencephalopathies are a rare group of disorders leading to progressive degeneration of cerebral white matter. They are associated with a spectrum of clinical phenotypes dominated by dementia, psychiatric changes, movement disorders and upper motor neuron signs. Mutations in at least 60 genes can lead to leukoencephalopathy with often overlapping clinical and radiological presentations.

Malignant meningitis secondary to oesophageal adenocarcinoma presenting with sensorineural hearing loss: a series of three cases and discussion of the literature.

Malignant meningitis may rarely present to the otolaryngologist. We report our experience with 3 patients presenting with sudden, progressive bilateral sensorineural hearing loss secondary to malignant meningitis. The primary tumour in all 3 cases was oesophageal adenocarcinoma.

Aicardi-Goutières syndrome harbours abundant systemic and brain-reactive autoantibodies.

Objectives: Aicardi-Goutières syndrome (AGS) is an autoimmune disorder that shares similarities with systemic lupus erythematous. AGS inflammatory responses specially target the cerebral white matter. However, it remains uncertain why the brain is the most affected organ, and little is known about the presence of autoantibodies in AGS.

Ascending aorta thrombus: A diagnostic and treatment dilemma.

Due to its position, a mass lesion in the ascending aorta poses a diagnostic and treatment dilemma. We describe the management of a symptomatic mass in the ascending aorta in a 35-year-old man who presented with a cerebrovascular accident.

Complete right ventricular obstruction caused by a giant cardiac myxoid sarcoma.

Myxoid sarcoma is a very rare variant of primary malignant sarcoma of the heart, which presents like a myxoma. We describe the case of 21-year-old man with a giant myxoid sarcoma occupying most of the right ventricle. He underwent emergency surgery to resect the tumor and replace the tricuspid valve which was infiltrated.

Constrictive pericarditis and rheumatoid nodules with severe aortic incompetence.

The case of a female patient presenting with constrictive rheumatoid pericarditis and aortic incompetence secondary to valvular rheumatoid nodules is described along with a review of the literature with the aim to highlight this rare cause of aortic insufficiency.

Bilateral non-contiguous atypical papillary glioneuronal tumor: case report.

Papillary glioneuronal tumor (PGNT) was first described as a distinct clinic-pathological entity by Komori et al. in 1998. Since then it has been included as a mixed neuronal-glial tumor in the revised WHO (2007) classification of central nervous system tumors.

Rare case of primary spinal ependymomatosis occurring in a 26-year-old man: a case report.

Introduction: The authors report a rare case of primary spinal ependymomatosis in a young adult man. Multiple primary ependymomatous lesions were seen on magnetic resonance imaging and no anaplasia was identified on the surgical-pathological analysis. The aetio-pathological mechanism and surgical significance of this rare occurrence is discussed.

Absence of aquaporin-4 expression in lesions of neuromyelitis optica but increased expression in multiple sclerosis lesions and normal-appearing white matter.

Aquaporin-4 (AQP4) has recently been implicated in the pathogenesis of neuromyelitis optica (NMO) where it has been identified as the first defined autoantigen pertinent to an inflammatory demyelinating disorder of the human CNS. Furthermore, a recent case report has shown a lack of AQP4 expression in the spinal cord lesions of NMO. However, the pattern of AQP4 expression in multiple sclerosis (MS) tissues has not been well-defined.