Epidemiological, clinical and genetic aspects of adult onset isolated focal dystonia in Ireland

Background: Adult onset idiopathic isolated focal dystonia presents with a number of phenotypes. Reported prevalence rates vary considerably; well-characterized cohorts are important to our understanding of this disorder. Aim: To perform a nationwide epidemiological study of adult onset idiopathic isolated focal dystonia in the Republic of Ireland. Methods: Patients with adult onset idiopathic isolated focal dystonia were recruited from multiple sources. Diagnosis was based on assessment by a neurologist with an expertise in movement disorders. When consent was obtained, a number of clinical features including family history were assessed. Results: On the prevalence date there were 592 individuals in Ireland with adult onset idiopathic isolated focal dystonia, a point prevalence of 17.8 per 100 000 (95% confidence interval 16.4-19.2). Phenotype numbers were cervical dystonia 410 (69.2%), blepharospasm 102 (17.2%), focal hand dystonia 39 (6.6%), spasmodic dysphonia 18 (3.0%), musician\u27s dystonia 17 (2.9%) and oromandibular dystonia six (1.0%). Sixty-two (16.5%) of 375 consenting index cases had a relative with clinically confirmed adult onset idiopathic isolated focal dystonia (18 multiplex and 24 duplex families). Marked variations in the proportions of patients with tremor, segmental spread, sensory tricks, pain and psychiatric symptoms by phenotype were documented. Conclusions: The prevalence of adult onset idiopathic isolated focal dystonia in Ireland is higher than that recorded in many similar service-based epidemiological studies but is still likely to be an underestimate. The low proportion of individuals with blepharospasm may reflect reduced environmental exposure to sunlight in Ireland. This study will serve as a resource for international comparative studies of environmental and genetic factors in the pathogenesis of the disorder

Aneurysm of main pulmonary artery in a neonate with airway obstruction and heart failure: long-term survival after pulmonary artery aneurysmectomy and patent ductus arteriosus ligation.

A neonate was seen with complete atelectasis of the left lung secondary to compression of the left main bronchus by a congenital aneurysmal main pulmonary artery. Operation consisted of pulmonary artery aneurysmectomy and ligation of an associated patent ductus arteriosus. Follow-up (3 years after operation) demonstrated complete resolution of the atelectasis and congestive heart failure

Vasovagal syncope in children requiring pacemaker implantation.

Four children presented with episodic loss of consciousness. Two of the children were siblings. Neurologic causes were initially suspected in all but extensive evaluations and EEGs excluded seizures. ECGs in one patient demonstrated first- and second-degree AV block and first-degree AV block in another. The QT and QTc intervals were normal in all. Eyeball pressure in all patients produced profound bradycardia. All patients became asymptomatic after the implantation of pacemakers, although one died 15 months afterward from another cause

A health status survey of clams, Mya arenaria and Ensis siliqua, in the Irish Sea

The soft shell clam, Mya arenaria, and the razor clam, Ensis siliqua, are widely distributed in Irish waters. Though the reproductive biology and other aspects of the physiology of these species has been previously investigated, little or no data are currently available on their health status. As this knowledge is essential for correct management of a species, M. arenaria and E. siliqua were examined to assess their current health status using histological and molecular methods, over a period of sixteen months. No pathogens or disease were observed in M. arenaria, and low incidences of Prokaryote inclusions, trematode parasites, Nematopsis spp. and eosinophilic bodies were recorded in razor clams for the first time in Northern European waters