Identifying patient-related barriers in hypertension control: a multi-centered, mixed-method study in Greek rural practices.

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. METHODS: A mixed-methods study, using both quantitative and qualitative research methodology, was conducted by 12 general practitioners working in rural areas in five different prefectures in Greece. A 42-item, pre-tested questionnaire was completed by the hypertensive patients who visited the practices and were included among the first 20 patients for 20 consecutive working days. Included participants were patients who (a) had diagnosed hypertension and received BP-lowering medication, (b) were aged over 18 years, (c) had physical and mental ability to participate in an interview, (d) had adequate understanding of the Greek language and (e) provided signed, informed consent. The open-ended questions used to identify the patient-related barriers in hypertension control were analyzed using thematic content analysis. RESULTS: A total of 613 hypertensive patients were recruited (response rate 91%); mean age was 71.5 years (SD 9.4, range 34-100) and 39.5% (242) were male. Uncontrolled BP was found in 41.3% (253), of which 67.6% (171) considered their BP controlled, 18.6% (47) uncontrolled, while 13.8% (35) were unaware of their status. Women were more likely to achieve BP control (OR 1.44, 95% confidence interval 1.04-2.00). As many as 287 (46.8%) patients knew the optimal values for BP. The identified barriers in hypertension control were grouped into six themes: knowledge gaps, intolerance of adverse events, negligence, unmet individual preferences, financial barriers and overtreatment of hypertension. CONCLUSION: Physicians should be aware of the possible disconnection between their patients' perceived and actual BP control, given frequent overestimation of BP control rates and the lack of knowledge of target BP levels. They should bear in mind that covering their patients' knowledge gaps is essential in empowering their patients to get more actively involved in the management of their chronic condition. Simultaneously, physicians should aim to elicit each patient's attitudes, concerns about adverse events, individual preferences, as well as possible financial barriers and negligence, in an effort to actually see the antihypertensive treatment 'through their patients' eyes' and eliminate possible barriers in medication adherence. The provision of patient-centered care remains the gold standard for eliminating patient-related barriers and achieving higher levels of BP control.

Expanded Prader-Willi Syndrome due to an Unbalanced de novo Translocation t(14;15): Report and Review of the Literature.

In 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 15q11.2q13 Prader-Willi syndrome (PWS) critical region, while no known deleted genes are found in the 14qter region. According to literature review, patients with similar or larger deletions in the 15q region exhibit an expanded phenotype of PWS with case-specific atypical features such as severe retardation, absence of speech, microcephaly, retrognathia, bifid uvula, ear malformations, and heart defects in addition to typical features of PWS. Our proband exhibited increased deep tendon reflexes, an atypical feature which is not reported in the reviewed literature. The severity of the phenotype is not directly associated with the size of the deletion; however, using a combination of methods, the identification of breakpoints and the deleted genes can be helpful for the prognostication in patients with atypical PWS deletions.

Routine use of array comparative genomic hybridization (aCGH) as standard approach for prenatal diagnosis of chromosomal abnormalities. Clinical experience of 1763 prenatal cases.

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. RESULTS: The result was pathogenic/unknown penetrance in 125 cases (7.1%), and a variant of unknown significance (VOUS) was detected in 13 cases (0.7%). Out of the 125 cases with abnormal findings, 110 were also detected by conventional karyotype analysis. The aCGH increment in diagnostic yield was 0.9% (15/1763) and 1.6% when VOUS were included. Stratifying the sample according to indications for prenatal invasive testing, the highest values of diagnostic yield increment were observed for patients positive for second-trimester sonographic markers (1.5%) and for the presence of fetal structural anomalies (1.3%). In contrast, the incremental yield was marginal in patients with fetus with increased nuchal translucency (0.5%). CONCLUSION: The present study indicates that routine implementation of aCGH offers an incremental yield over conventional karyotype analysis, which is also present in cases with 'milder' indications, further supporting its use as a first-tier test.

Prenatal detection of TAR syndrome in a fetus with compound inheritance of an RBM8A SNP and a 334­kb deletion: a case report.

Thrombocytopenia­absent 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 life­threatening bleeding episodes (thrombocytopenia). Tar syndrome has been associated with a deletion of a segment of 1q21.1 cytoband. The 1q21.1 deletion syndrome phenotype includes Tar and other features such as mental retardation, autism and microcephaly. This study describes a case of a prenatally diagnosed fetus with compound inheritance of a small (334 kb) deletion, as detected by array­comparative genomic hybridization, and a 5' untranslated region (UTR) low­frequency allele (rs139428292) in gene RBM8A as detected by Sanger sequencing. The study describes the first case of prenatal analysis of TAR syndrome in a fetus with compound inheritance of a 334­kb deletion in the 1q21.1 region and a low­frequency 5' UTR single nucleotide polymorphism, and provides confirmation of the causal nature of the RBM8A gene in the diagnosis of TAR syndrome.

Prenatal diagnosis of two de novo 4q35-qter deletions characterized by array-CGH.

BACKGROUND: 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. RESULTS: Herein we report two prenatal cases of 4qter deletions which presented the first with no sonographic findings and the second with brain ventriculomegaly combined with oligohydramnios. Standard karyotyping demonstrated a deletion at band q35.1 of chromosome 4 in both cases. The application of a-CGH confirmed the diagnosis and offered a precise characterization of the genetic defect. CONCLUSIONS: We provide a review of the currently available literature on the prenatal diagnostic approach of 4q- syndrome and we compare our results with other published cases. Our data suggest that the identification and the precise molecular characterization of new cases with 4q- syndrome will contribute in elucidating the genetic spectrum of this disorder.

Assessing laryngopharyngeal reflux symptoms with the Reflux Symptom Index: validation and prevalence in the Greek population.

OBJECTIVE: 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. SUBJECTS AND METHODS: For validation purposes, the instrument was administered to 53 patients with confirmed LPR. Sex- and age-matched controls with no LPR or gastroesophageal reflux disease (GERD) symptoms presenting in a primary care setting composed the control group. Reliability and construct validity were statistically appraised. Using the RSI, the authors estimated the prevalence of LPR in a randomly selected sample of the Greek adult population. RESULTS: The mean (SD) RSI score of the 172 sex- and age-matched controls was 3.2 (3.5). The mean (SD) RSI score of the 53 confirmed LPR patients was 19.9 (6.8). Cronbach α was 0.865. Factor analysis verified that the RSI instrument consists of 2 principal factors. To estimate the prevalence of LPR, a representative sample of the Greek adult population (188 subjects) completed the RSI questionnaire: 36.3% were male, and 29.6% were smokers. Mean (SD) age was 53.4 (17.7) years. The instrument was able to discriminate 16 patients with LPR symptoms with a mean (SD) score of 18.91 (6.39). CONCLUSION: The authors evaluated the internal consistency, reliability, and construct validity of the RSI for the Greek population. Factor analysis of the Greek translation of the RSI demonstrated that it can be a reliable tool in the diagnostic approach of LPR patients. Using the RSI, the authors recorded that the prevalence of LPR in a representative sample of the Greek population is 8.5%.

Upper gastrointestinal endoscopy for dyspepsia: exploratory study of factors influencing patient compliance in Greece.

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. The patients which refused to complete the endoscopy exam, were interviewed by the use of an open- ended translated and validated questionnaire, the Identification of Dyspepsia in General Population (IDGP) questionnaire. A qualitative thematic analysis grounded on the theory of planned behavior was performed to reveal the reasons for patients' refusal, while socio-demographic predictors were also assessed. RESULTS: Nine hundred and ninety two patients were recorded, 159 of them (16%) were found positive for dyspepsia and gastro-esophageal reflux disease according to the IDGP questionnaire. Out of the above, 131 (83.6%) patients refused further investigation with endoscopy. Patients who refused upper endoscopy were predominantly female (87.8%) (p = 0.036) and over the age of 50. The lack of severe symptoms, fear of pain, concerns of sedation, comorbidity and competing life demands were reported by patients as barriers to performing an endoscopic investigation. CONCLUSIONS: Patients with dyspepsia in rural Greece tend to avoid upper gastrointestinal endoscopy, with two major axons considered to be the causes of patients' refusal: their beliefs towards endoscopy and their personal capability to cope with it. Future research examining reasons of low compliance should be carried out in combination with modern behavioral theories so as to investigate into the above.

Rural primary care in Greece: working under limited resources.

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. The questionnaire included questions about the number of doctors in the practice, their specialty, presence of a nurse, population served and average distance from the regional Health Center and hospital. It also included questions about the average number of consultations per day, home visits, maintenance of medical records and medical equipment. SETTING: Rural primary care settings in Greece. PARTICIPANTS: Doctors serving primary care needs during the second half of 2007. INTERVENTION: s) None. MAIN OUTCOME MEASURE: s) Data concerning staffing, function and available equipment of the RS have been collected. RESULTS: Five hundred eighty-two (40.9%) of the rural practitioners replied. Twenty-nine percent of the participants were general practitioners (GPs). Doctors reported average population of responsibility of 2263 citizens and a regular average of 26 consultations per day. A nurse was present in 174 RS (29.5%). Medical records of any form were kept in only 36% of the RS. GPs were more prone to maintain patients files compared with non-specialized doctors. Essential equipment proved to be limited in the majority of the RS. CONCLUSIONS: Rural practices in Greece report shortages of medical staff (GPs), nursing staff and equipment.