Read more about the article Potential therapy paradigms for Marfan syndrome.
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Potential therapy paradigms for Marfan syndrome.

Abstract Marfan syndrome is the most common genetic disorder of the connective tissue with an estimated prevalence of 1:10,000. The disease is characterised by manifestations in the cardiovascular, skeletal and…

Continue ReadingPotential therapy paradigms for Marfan syndrome.
Read more about the article The Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot village.
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The Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot village.

Abstract GM1 gangliosidosis is a lysosomal storage disorder caused by deficiency of beta-galactosidase. It is mainly characterized by progressive neurodegeneration, and in its most severe infantile form, it leads to…

Continue ReadingThe Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot village.
Read more about the article Identification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y-chromosome instability.
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Identification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y-chromosome instability.

Abstract A mosaic karyotype consisting of a 45,X cell line and a second cell line containing a normal or an abnormal Y chromosome is relatively common and is associated with…

Continue ReadingIdentification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y-chromosome instability.
Read more about the article Ulnar neuropathy at Guyon’s canal: electrophysiological and surgical findings.
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Ulnar neuropathy at Guyon’s canal: electrophysiological and surgical findings.

Abstract Published correlations between electrophysiological and surgical findings are relatively rare in cases of ulnar nerve compression at the wrist, compared to the more common compression of the ulnar nerve…

Continue ReadingUlnar neuropathy at Guyon’s canal: electrophysiological and surgical findings.
Read more about the article Gathered Mediterranean food plants–ethnobotanical investigations and historical development.
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Gathered Mediterranean food plants–ethnobotanical investigations and historical development.

Abstract The diversity of local Mediterranean food elements is not known in detail, but offers itself to search for new vegetables, salads, fruits and spices which could be used in…

Continue ReadingGathered Mediterranean food plants–ethnobotanical investigations and historical development.
Read more about the article Arrhythmogenic right ventricular cardiomyopathy caused by deletions in plakophilin-2 and plakoglobin (Naxos disease) in families from Greece and Cyprus: genotype-phenotype relations, diagnostic features and prognosis.
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Arrhythmogenic right ventricular cardiomyopathy caused by deletions in plakophilin-2 and plakoglobin (Naxos disease) in families from Greece and Cyprus: genotype-phenotype relations, diagnostic features and prognosis.

Abstract To evaluate clinical disease expression, non-invasive diagnosis, and prognosis in families with dominant vs. recessive arrhythmogenic right ventricular cardiomyopathy (ARVC) due to mutations in related desmosomal proteins plakophilin-2 (PKP2)…

Continue ReadingArrhythmogenic right ventricular cardiomyopathy caused by deletions in plakophilin-2 and plakoglobin (Naxos disease) in families from Greece and Cyprus: genotype-phenotype relations, diagnostic features and prognosis.
Read more about the article The impact of genotype on endocrine complications in thalassaemia major.
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The impact of genotype on endocrine complications in thalassaemia major.

Abstract The clinical severity in thalassaemia major (TM) depends on the underlying mutations of the beta-globin gene and the degree of iron overload. The aim of the study was to…

Continue ReadingThe impact of genotype on endocrine complications in thalassaemia major.
Read more about the article Future chelation monotherapy and combination therapy strategies in thalassemia and other conditions. comparison of deferiprone, deferoxamine, ICL670, GT56-252, L1NAll and starch deferoxamine polymers.
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Future chelation monotherapy and combination therapy strategies in thalassemia and other conditions. comparison of deferiprone, deferoxamine, ICL670, GT56-252, L1NAll and starch deferoxamine polymers.

Abstract Deferiprone (L1), and appropriate combinations with deferoxamine (DFO), can be used effectively for the treatment of thalassemia and other transfusional iron loading conditions. A number of experimental iron chelators…

Continue ReadingFuture chelation monotherapy and combination therapy strategies in thalassemia and other conditions. comparison of deferiprone, deferoxamine, ICL670, GT56-252, L1NAll and starch deferoxamine polymers.
Read more about the article Parallel auditory vestibular evoked neurogenic and myogenic potential results in a case of peripheral vestibular dysfunction, showing that the former originates from the vestibular system.
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Parallel auditory vestibular evoked neurogenic and myogenic potential results in a case of peripheral vestibular dysfunction, showing that the former originates from the vestibular system.

Abstract Vestibular evoked myogenic potentials (VEMPs) uses high intensity clicks with recording from the tonically active sternocleidomastoid muscle, taking advantage of the close proximity of the saccule to the oval…

Continue ReadingParallel auditory vestibular evoked neurogenic and myogenic potential results in a case of peripheral vestibular dysfunction, showing that the former originates from the vestibular system.