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OBJECTIVE To identify patients with upper gastrointestinal symptoms and explore their clinical management in the primary care setting. METHOD The study population consisted of all patients who attended 5 rural health centers in the areas of Central Macedonia and Crete in Greece on 10 consecutive days. In total 992 patients were evaluated for upper gastrointestinal symptoms using questionnaires validated for Greek use: IDGP concerning dyspepsia and RDQ for Gastroesophageal Reflux Disease (GERD). All patients with positive indications were referred for upper endoscopy. Those patients who refused upper endoscopy were further evaluated for Helicobacter pylori (HP) infection with the urea breath test (UBT). RESULTS Of the 992 participants, 160 (16.12%) were found positive for dyspepsia according to the IDGP, while in 156 (15.72%) there were also symptoms of GERD. Twenty patients were found positive for HP through endoscopy and 65 through UBT. An increased frequency of upper gastrointestinal symptoms was observed in these two rural areas of Greece. CONCLUSIONS The use of specific questionnaires appears to contribute to the early identification and better clinical management of patients with upper gastrointestinal symptoms in primary care. [ABSTRACT FROM AUTHOR]

Background: Statin regimens are essential for managing lipids and preventing cardiovascular diseases, both in primary and secondary prevention, alongside lifestyle changes. There are, however, some side-effects associated with statin intake, such as an elevation of (CK) and myopathy., Case Description: This case describes a coronary patient with high low-density lipoprotein cholesterol (LDL-C) who was undertreated due to elevated creatine kinase (CK) levels and myopathy initially linked to statin use. A proprotein convertase subtilisin/kexin type 9 inhibitor (PCSK9i) replaced statin therapy; however, the existence of persisting/recurrent symptoms or CK elevation posed the need for further investigation. A neurological examination, an electromyography (EMG), and a nerve conduction study (NCV) revealed an underlying sensorimotor polyneuropathy, probably Charcot-Marie-Tooth disease., Conclusions: Persistent muscle symptoms in patients receiving statins should not be always attributed solely to statin intake. Further neurological evaluation could reveal underlying hereditary sensorimotor polyneuropathies. PCSK9i could serve as the therapy of choice in such cases, as additional drug-induced myopathy could pose severe problems for those patients. HIPPOKRATIA 2023, 27 (4):155-157., Competing Interests: The Authors declare no conflicts of interest., (Copyright 2023, Hippokratio General Hospital of Thessaloniki.)

Background: Following the global pandemic of coronavirus disease 2019 (COVID-19), the long COVID or post-COVID syndrome refers to a relatively complex novel clinical entity. We conducted this study to assess the primary epidemiological features, main symptoms, and comorbidities probably related to this syndrome in patients referred to our long/post-COVID primary care unit during the initial months of its operation., Methods and Material: This single-center prospective observational study was conducted between April 2022 and December 2022 and enrolled 71 patients (33 men, 38 women) who were examined due to persisting symptoms after recovering from COVID-19 infection, with the mean time of the first visit estimated at 3.12 ± 2.41 months from their acute COVID-19 illness. A thorough medical history, clinical examination, laboratory, and any other tests were performed on all patients when necessary., Results: The most common symptoms of long/post-COVID reported were fatigue (63.4 %), a persistent cough (45.1 %), stress manifestations (42.3 %), arthralgia or myalgia (33.8 %), tachycardia (32.4 %), depression manifestations (29.6 %), exertional dyspnea (28.2 %), and sleep disorders (25.4 %). Hypertension (in about 40 %) and the presence of five or more symptoms during the acute COVID-19 illness (in approximately 52 %) could be regarded as factors increasing the long/post-COVID appearance. The long/post-COVID syndrome affects even patients not experiencing severe COVID-19 illness. Unvaccinated patients are at higher risk of severe COVID-19 (p =0.014), higher risk of hospitalization (p =0.002), and in higher need of respiratory support with high flow (p =0.017) when compared to vaccinated ones. Hospitalized patients appear to be older than outpatients (59 ± 12.42 vs 52.78 ± 11.48 years of age; p =0.032., Conclusion: The long/post-COVID syndrome is an established clinical entity, and several clinical features, symptoms, and patient profiles have to be assessed from the initial medical contact in primary care to exclude early any other clinical conditions and offer guided therapeutic strategies to those patients. HIPPOKRATIA 2022, 26 (4):138-142., Competing Interests: Authors declare no conflicts of interest. This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors., (Copyright 2022, Hippokratio General Hospital of Thessaloniki.)

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.

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., (© 2019 S. Karger AG, Basel.)

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., (© 2015 John Wiley & Sons, Ltd.)

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. 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 array‑comparative genomic hybridization, and a 5' untranslated region (UTR) low‑frequency 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 334‑kb deletion in the 1q21.1 region and a low‑frequency 5' UTR single nucleotide polymorphism, and provides confirmation of the causal nature of the RBM8A gene in the diagnosis of TAR syndrome.

Although recent studies suggest that high intakes of meat and heme iron are risk factors for several types of cancer, studies in relation to esophageal adenocarcinoma (EAC) are scarce. Previous results in the European Prospective Investigation into Cancer and Nutrition (EPIC) based on a relatively small number of cases suggested a positive association between processed meat and EAC. In this study, we investigate the association between intake of different types of meats and heme iron intake and EAC risk in a larger number of cases from EPIC. The study included 481,419 individuals and 137 incident cases of EAC that occurred during an average of 11 years of follow-up. Dietary intake of meat (unprocessed/processed red and white meat) was assessed by validated center-specific questionnaires. Heme iron was calculated as a type-specific percentage of the total iron content in meat. After adjusting for relevant confounders, we observed a statistically significant positive association of EAC risk with heme iron and processed meat intake, with HR: 1.67, 95% CI: 1.05-2.68 and HR: 2.27, 95% CI:1.33-3.89, respectively, for comparison of the highest vs. lowest tertile of intake. Our results suggest a potential association between higher intakes of processed meat and heme iron and risk of EAC., (Copyright © 2013 UICC.)

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.

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.

Control is the aim of asthma management and clinical trials show that control can be achieved in the majority of patients. However, population surveys show that poorly controlled asthma still imposes a considerable burden. This fact has led to a re-evaluation of the international asthma guidelines and the updated 2006 and 2007 GINA and NAEPP guidelines suggest that the level of control should be used as the key feature for the classification and management of asthma. Furthermore, in the latest guidelines, a clearer definition of control is given and new tools for the assessment and monitoring of control are instituted. In order to achieve asthma control, not only relevant pharmacological treatment but, the establishment of a good patient-doctor relationship, proper education of the asthmatic patient, reduction of exposure to triggers and treatment of co-morbidities are pivotal issues and must be ensured.

Background: Asthma and rhinitis often coexist, and there is evidence to suggest that they have similar histopathologic features., Objective: To examine whether the inflammatory infiltration in the nasal mucosa in rhinitis is affected by the presence of asthma and allergy., Methods: Nasal mucosa biopsy samples were collected from 44 individuals: 18 with rhinitis and asthma (9 allergic and 9 nonallergic), 16 with rhinitis and no asthma (8 allergic and 8 nonallergic), and 10 nonallergic control subjects. The alkaline phosphatase-anti-alkaline phosphatase method was applied to 6-microm-thick cryostat sections using monoclonal antibodies against T cells (CD4 and CD8) and eosinophils (EG2). Slides were counted blindly, and results are expressed as cells per high-power field., Results: Eosinophil counts were higher in the nasal mucosa of rhinitic patients vs controls. No differences in cellular infiltration were detected between rhinitic patients with and without asthma or between allergic and nonallergic patients. A trend toward higher CD4+ T-cell counts in the nasal mucosa of rhinitic patients was observed, whereas no differences were noted in CD8+ T-cell infiltration among the groups., Conclusion: Inflammatory infiltration, characterized by the presence of eosinophils and CD4+ T cells, was similar in the nasal mucosa in noninfectious rhinitis irrespective of the presence of asthma or the allergic status of the patient.