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Thalassaemia is one of the most widespread recessive blood disorders in the world. This article focuses the historical trajectory by which the Cypriot thalassaemia prevention system, one of the most successful of its kind, achieved full prevention rate. By tracing the history of decision‐making of medical practitioners central to the construction of the prevention system, my objective is to further elucidate underlying logics of policy‐making and health governance which can account for its success. As I suggest, the Cypriot thalassaemia prevention system achieved a full prevention rate because it operated according to a 'slow' modality of problematisation and decision‐making, which accounted for the cultural, social and ethical dimensions specific to the Cypriot public. [ABSTRACT FROM AUTHOR]

Introduction: We report the clinical, biochemical, and molecular findings in a Cypriot family with minimally symptomatic McArdle disease.Methods: Myophosphorylase in muscle was assessed by histochemistry, quantitative spectrophotometry, and western blot analysis. Mutation identification was performed by PCR amplification of all PYGM exons, followed by bidirectional sequencing. Screening for the new mutation was performed by restriction enzyme analysis.Results: We found that a novel c.1151C>T transition in exon 10 of the myophosphorylase gene (PYGM) is associated with minimally symptomatic McArdle disease. Homozygous carriers displayed an ischemic exercise response characterized by a blunted increase in post-exercise blood lactate levels in conjunction with an exaggerated increase in ammonia. Myophosphorylase activity in muscle was 3.75% of normal, whereas the size and abundance of the enzyme were unaffected.Conclusions: These findings expand the genotype-phenotype spectrum of McArdle disease and suggest that enzymatic activity as low as 4% may be sufficient to ameliorate the phenotype. [ABSTRACT FROM AUTHOR]

The article describes the case of a patient initially diagnosed with obstructive sleep apnea syndrome and who showed manifestations of multifocal motor neuropathy with conduction block accompanied with sleep hypoventilation. The past medical history of the patient included hypertension and coronary artery disease. The patient was treated successfully with regular immunoglobulin and bilevel nocturnal ventilation.

Four patients, aged 25 to 42 years presented with acute onset of a movement disorder characterized by a tonic, sustained, lateral and outward protrusion of one half of the lower lip. The movement disorder was present at rest, while in some patients, it was also present during speech. In all cases, the abnormal lip posture could be suppressed voluntarily. Neurological examination was otherwise normal. Extensive laboratory investigation failed to reveal any causative factors for secondary focal dystonia. Treatment with oral medications and botulinum toxin was mostly ineffective. Spontaneous remissions were frequent. © 2003 Movement Disorder Society [ABSTRACT FROM AUTHOR]