Comparison of the size of persistent foramen ovale and atrial septal defects in divers with shunt-related decompression illness and in the general population.

Introduction: Decompression illness (DCI) is associated with a right-to-left shunt, such as persistent foramen ovale (PFO), atrial septal defect (ASD) and pulmonary arteriovenous malformations. About one-quarter of the population have a PFO, but considerably less than one-quarter of divers suffer DCI. Our aim was to determine whether shunt-related DCI occurs mainly or entirely in divers with the largest diameter atrial defects.

Relation between inheritance of cyanotic congenital heart disease and persistent foramen ovale.

Cyanotic congenital heart disease (CCHD) usually occurs sporadically, but occasionally it is familial without evidence of Mendelian inheritance. The investigators previously reported an association between dominant inheritance of clinically significant atrial shunts (large persistent foramina ovale and small atrial septal defects) and migraine with aura in some families. In 1 family, 4 patients with CCHD were linked by relatives with atrial shunts.

Prevalence of migraine in adults with cyanotic congenital heart disease.

Objective: There is an increased prevalence of patent foramen ovale in patients with migraine, leading to the suggestion that migraine is more common in patients with potential right-to-left shunts. The aim of this study was to investigate the prevalence of migraine in adults with large right-to-left shunts because of cyanotic congenital heart disease.

Design And Patients: In total, 29 cyanotic adult patients with congenital heart disease answered a questionnaire to determine the prevalence of migraine with or without aura.

Relation of atrial shunts to migraine in patients with ischemic stroke and peripheral emboli.

This study investigated whether the increased incidence of stroke in young subjects with migraine is because they have an increased prevalence of atrial right-to-left shunts. The investigators report the prevalence of clinically relevant atrial shunts in those with stroke and migraine compared with those with stroke but without migraine and also in historic control groups of subjects who had migraine with aura but no stroke and in population controls. Of 60 consecutive stroke patients, 42 (70%) had large- or medium-sized atrial shunts.

Recurrent dystonia in homocystinuria: a metabolic pathogenesis.

Dystonia complicating homocystinuria is extremely rare in the absence of thromboembolic disease. We report a unique case of recurrent dystonia in a patient with homocystinuria secondary to pyridoxine-unresponsive cystathionine beta-synthase deficiency. Brain MRI was normal.

Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia.

DNA polymerase gamma (pol gamma ) is required to maintain the genetic integrity of the 16,569-bp human mitochondrial genome (mtDNA). Mutation of the nuclear gene for the catalytic subunit of pol gamma (POLG) has been linked to a wide range of mitochondrial diseases involving mutation, deletion, and depletion of mtDNA. We describe a heterozygous dominant mutation (c.

The role of cardiac and pulmonary pathology in migraine: a hypothesis.

From observation of recent data linking migraine with right-to-left shunts and by analogy with the etiologies of decompression illness, we postulate that cardiac and pulmonary pathology can have an important effect on the cranial final common pathway that generates attacks of migraine. One possible mechanism is associated with a significant right-to-left shunt, which is usually through a persistent foramen ovale, but is sometime through a pulmonary shunt. This allows a venous agent, possibly 5-hydroxytryptamine, to bypass the lung filter.

The von Hippel-Lindau (VHL) germline mutation V84L manifests as early-onset bilateral pheochromocytoma.

Von Hippel-Lindau (VHL) disease is a heritable tumor susceptibility syndrome caused by germline mutations in the VHL gene. The types of tumor that can occur in affected individuals include retinal and central nervous system hemangioblastoma, renal cell carcinoma, pheochromocytoma, and others. The pattern of tumor types that develops in a VHL-affected family defines the clinical subtype (1, 2A, 2B, 2C).

Widening the sphere of influence: using a tool to extend extrapersonal visual space in a patient with severe neglect.

We report evidence that visual representations of space close to the body can be extended when a patient uses a tool to explore the environment. HB had severe neglect of left and far spatial regions which was determined more by how locations were visually perceived than by how they were represented tactilely or through proprioception. His ability to detect visual targets in left and far space was improved, however, when he held a tool.