Browsing by Subject "clinical article"

Article

The A and B fragments of normal type I procollagen have a similar thermal stability to proteinase digestion but are selectively destabilized by structural mutations

Constantinou-Deltas, Constantinos D.; VOGEL, B. E.; JEFFREY, J. J.; PROCKOP, D. J. (1987)

Previous studies demonstrated that the thermal stability of the procollagen triple helix can be assayed by digesting the protein for short periods with high concentrations of trypsin and chymotrypsin. Here we cleaved human ...

Article

Autosomal dominant medullary cystic kidney disease: Evidence of gene locus heterogeneity

Fuchshuber, A.; Constantinou-Deltas, Constantinos D.; Berthold, S.; Stavrou, Christoforos V.; Vollmer, M.; Burton, C.; Feest, T.; Krieter, D.; Gal, A.; Brandis, M.; Pierides, Alkis M.; Hildebrandt, F. (1998)

Autosomal dominant medullary cystic kidney disease (ADMCKD

Article

A correlative study of quantitative EMG and biopsy findings in 31 patients with myopathies

Dardiotis, Efthymios; Papathanasiou, Eleftherios Stelios; Vonta, Filia; Hadjigeorgiou, Georgios M.; Zamba-Papanicolaou, Eleni; Kyriakides, Theodoros (2011)

A direct correlation of QEMG with muscle biopsy findings might help delineate the sensitivity of QEMG in identifying muscle pathology as well as provide information on electrophysiological-histological correlations. In a ...

Article

Description of the first two seemingly unrelated Greek Cypriot families with a common C618R RET proto-oncogene mutation

Neocleous, Vassos; Passalaris, T.; Spanou, E.; Kitsios, P.; Skordis, Nicos A.; Constantinou-Deltas, Constantinos D. (2004)

Germ-line mutations of the RET proto-oncogene cause three different cancer syndromes: multiple endocrine neoplasia type 2A (MEN2A), multiple endocrine neoplasia type 2B, and familial medullary thyroid carcinoma (FMTC). The ...

Article

Detection of a novel nonsense mutation and an intragenic polymorphism in the PKD1 gene of a Cypriot family with autosomal dominant polycystic kidney disease

Neophytou, Pavlos; Constantinides, Rolandos; Lazarou, Akis; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (1996)

Mutations in the PKD1 gene on the short arm of chromosome 16 account for 85%-90% of polycystic kidney disease patients in the Caucasian population. After the recent characterization of the gene, we started a search for ...

Article

Efficient training of neural network models in classification of electromyographic data

Pattichis, Constantinos S.; Charalambous, Chris; Middleton, Lefkos T. (1995)

Article

Emergence of Minor Populations of Human Immunodeficiency Virus Type 1 Carrying the M184V and L90M Mutations in Subjects Undergoing Structured Treatment Interruptions

Metzner, K. J.; Bonhoeffer, S.; Fischer, M.; Karanicolas, R.; Allers, K.; Joos, B.; Weber, R.; Hirschel, B.; Kostrikis, Leontios G.; Günthard, H. F. (2003)

The use of structured treatment interruption (STI) in human immunodeficiency virus (HIV)-infected subjects is currently being studied as an alternative therapeutic strategy for HIV-1. The potential risk for selection of ...

Article

Evidence for high-risk haplotypes and (CGG)n expansion in fragile X syndrome in the hellenic population of Greece and Cyprus

Syrrou, Maria; Patsalis, Philippos C.; Georgiou, Ioannis A.; Hadjimarcou, Michael I.; Constantinou-Deltas, Constantinos D.; Pagoulatos, G. (1996)

The expansion of the trinucleotide repeat (CGG)n in successive generations through maternal meiosis is the cause of fragile X syndrome. Analysis of CA repeat polymorphisms flanking the FMR-1 gene provides evidence of a ...

Article

Evidence of two distinct subsubtypes within the HIV-1 subtype A radiation

Gao, F.; Vidal, N.; Li, Y.; Trask, S. A.; Chen, Y.; Kostrikis, Leontios G.; Ho, David D.; Kim, J.; Oh, M. -D; Choe, K.; Salminen, M.; Robertson, D. L.; Shaw, G. M.; Hahn, B. H.; Peeters, M. (2001)

Members of HIV-1 group M are responsible for the vast majority of AIDS cases worldwide and have been classified on the basis of their phylogenetic relationships into nine roughly equidistant clades, termed subtypes. Although ...

Article

A family with the branchio-oto-renal syndrome: Clinical and genetic correlations

Pierides, Alkis M.; Athanasiou, Yiannis; Demetriou, Kyproula; Koptides, Michael; Constantinou-Deltas, Constantinos D. (2002)

Background. The branchio-oto-renal (BOR) syndrome is an autosomal dominant disease characterized by hearing loss of early onset, preauricular pits, branchial clefts, and early progressive chronic renal failure in up to 40% ...

Article

Founder mutations in the ATP6V1B1 geneexplain most cypriot cases of distal renal tubular acidosis: First prenatal diagnosis

Elia, Avraam; Voskarides, Konstantinos; Demosthenous, Panayiota; Michalopoulou, A.; Malliarou, M. -A; Georgaki, Eleni; Athanasiou, Yiannis; Patsias, Charalambos; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2011)

Aims: To investigate clinically and genetically all the distal renal tubular acidosis (dRTA) cases in Cyprus, to study one more family from Greece and to perform the first dRTA prenatal diagnosis. We also tried to find any ...

Article

Genetic evidence for a trans-heterozygous model for cystogenesis in autosomal dominant polycystic kidney disease

Koptides, Michael; Mean, R.; Demetriou, Kyproula; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2000)

Polycystic kidney disease (ADPKD) is a condition with an autosomal dominant mode of inheritance and adult onset. Two forms of the disease, ADPKD1 and ADPKD2, caused by mutations in PKD1 and PKD2, respectively, are very ...

Article

Hepatitis C infection among intravenous drug users attending therapy programs in Cyprus

Demetriou, Victoria L.; Van De Vijver, D. A. M. C.; Hezka, Johana; Kostrikis, Leontios G.; Savvopoulou, Natasa; Georgiades, Neoklis; Charilaou, Charis C.; Argyriou, Argyris; Pavlou, Tina; Platritis, Kyriakos; Veresies, Kyriakos L. (2010)

The most high-risk population for HCV transmission worldwide today are intravenous drug users. HCV genotypes in the general population in Cyprus demonstrate a polyphyletic infection and include subtypes associated with ...

Article

HIV-specific cytotoxic T lymphocytes, HLA-A11, and chemokine-related factors may act synergistically to determine HIV resistance in CCR5 Δ32-negative female sex workers in Chiang Rai, northern Thailand

Sriwanthana, B.; Hodge, T.; Mastro, T. D.; Dezzutti, C. S.; Bond, K.; Stephens, H. A. F.; Kostrikis, Leontios G.; Limpakarnjanarat, K.; Young, N. L.; Qari, S. H.; Lal, R. B.; Chandanayingyong, D.; McNicholl, J. M. (2001)

Understanding how highly HIV-exposed individuals remain HIV uninfected may be useful for HIV vaccine design and development of new HIV prevention strategies. To elucidate mechanisms associated with resistance to HIV ...

Article

Medullary cystic kidney disease with hyperuricemia and gout in a large Cypriot family: No allelism with nephronophthisis type 1

Stavrou, Christoforos V.; Pierides, Alkis M.; Zouvani, Ioanna; Kyriacou, Kyriacos C.; Antignac, C.; Neophytou, Pavlos; Christodoulou, Kyproula; Constantinou-Deltas, Constantinos D. (1998)

We describe a large Cypriot family with an interstitial type of nephropathy, inherited as an autosomal dominant trait that led to end stage renal failure between 51 to 78 years of age (mean 62.2 years). Twenty-three people ...

Article

Molecular and Clinical Investigation of Cystinuria in the Greek-Cypriot Population

Athanasiou, Yiannis; Voskarides, Konstantinos; Chatzikyriakidou, Anthoula L.; Ignatiou, Anastasia; Demosthenous, Panayiota; Elia, Avraam; Zavros, Michalis; Georgiou, Ioannis A.; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2015)

Background and Aims: Cystinuria represents 3% of nephrolithiasis in humans. Two genes have been identified as the main genetic causes of cystinuria, SLC3A1 and SLC7A9, with an autosomal recessive mode of inheritance. In ...

Article

Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene

Feldman, M.; Prikis, Marios; Athanasiou, Yiannis; Elia, Avraam; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2006)

The spectrum of distal renal tubular acidosis (dRTA) includes a genetically heterogeneous group of inherited conditions of both autosomal-dominant and recessive mode of inheritance. The basic defect islinked to the renal ...

Article

Multi-scale AM-FM analysis for the classification of surface electromyographic signals

Christodoulou, Christodoulos I.; Kaplanis, P. A.; Murray, V.; Pattichis, Marios S.; Pattichis, Constantinos S.; Kyriakides, Theodoros (2012)

In this work, multi-scale amplitude modulation-frequency modulation (AM-FM) features are extracted from surface electromyographic (SEMG) signals and they are used for the classification of neuromuscular disorders. The ...

Article

Mutation analysis of coding sequences for type I procollagen in individuals with low bone density

Spotila, L. D.; Colige, A.; Sereda, L.; Constantinou-Deltas, Constantinos D.; Whyte, M. P.; Riggs, L. B.; Shaker, J. L.; Spector, T. D.; Hume, E.; Olsen, N.; Attie, M.; Tenenhouse, A.; Shane, E.; Briney, W.; Prockop, D. J. (1994)

Mutations in one of the two genes encoding type I procollagen (COL1A1 and COL1A2) are frequently the cause of osteogenesis imperfecta (OI), a disorder characterized by brittle bones. Here we tested whether patients with ...

Article

Neural Network Models in EMG Diagnosis

Pattichis, Constantinos S.; Schizas, Christos N.; Middleton, Lefkos T. (1995)

In the past years, several computer-aided quantitative motor unit action potential (MUAP) techniques were reported. It is now possible to add to these techniques the capability of automated medical diagnosis so that all ...