Introduction: Treated but uncontrolled hypertension is a worldwide challenge. Exploring patient perspectives in different cultures and contexts could contribute to a more comprehensive understanding of poor blood pressure (BP) control. This study aimed to investigate patients' knowledge and attitudes towards BP management in order to identify possible barriers to achieving effective control.
View Article and Find Full Text PDFIn the present study, we report a case of a female infant with a de novo unbalanced t(14;15) translocation resulting in a 14-Mb deletion of the 15q11.1q14 region. The deletion includes the 15q11.
View Article and Find Full Text PDFPrenat Diagn
December 2015
Objective: This study aims to evaluate the diagnostic yield of comparative genomic hybridization microarrays (aCGH) and compare it with conventional karyotype analysis of standard >5-Mb resolution.
Method: A total of 1763 prenatal samples were analyzed by aCGH (CytoChip Focus Constitutional microarrays, BlueGnome, Cambridge). The diagnostic yield of chromosomal abnormalities detected by aCGH was assessed, compared with conventional karyotype analysis.
Thrombocytopenia‑absent radius syndrome (TAR) is a rare genetic disorder that is characterized by the absence of the radius bone in each forearm and a markedly reduced platelet count that results in life‑threatening bleeding episodes (thrombocytopenia). Tar syndrome has been associated with a deletion of a segment of 1q21.1 cytoband.
View Article and Find Full Text PDFBackground: The 4q- syndrome is a well known genetic condition caused by a partial terminal or interstitial deletion in the long arm of chromosome 4. The great variability in the extent of these deletions and the possible contribution of additional genetic rearrangements, such as unbalanced translocations, lead to a wide spectrum of clinical manifestations. The majority of reports of 4q- cases are associated with large deletions identified by conventional chromosome analysis; however, the widespread clinical use of novel molecular techniques such as array comparative genomic hybridization (a-CGH) has increased the detection rate of submicroscopic chromosomal aberrations associated with 4q- phenotype.
View Article and Find Full Text PDFObjective: To validate the Reflux Symptom Index (RSI) in Greek patients and estimate the prevalence of laryngopharyngeal reflux (LPR) symptoms in the Greek population.
Study Design: Prospective, controlled validation study.
Setting: Tertiary referral hospital and primary care.
Background: Upper gastrointestinal endoscopy is the most preferable diagnostic examination for patients over fifty when upper gastrointestinal symptoms appear. However, limited knowledge exists in concerns to the compliance of primary care patients' to the doctors' recommendations for endoscopy.
Methods: Patients who visited primary care practices in Greece and experienced upper gastrointestinal symptoms within a 10 days screening study, were referred for an upper endoscopy exam.
Objective: Establishing sufficient primary health-care services in rural areas is of high interest in developing health systems. The objective of the present study was to describe the state of rural health services, in terms of personnel and equipment, in rural primary care settings in Greece.
Design: A questionnaire was sent to all Greek rural settings (RS) (practices) twice during 2007.