Fibroblast growth-factor 23 and vitamin D are associated with iron deficiency and anemia in children with chronic kidney disease.

BACKGROUND: This cross-sectional study investigates the association of fibroblast growth-factor 23 (FGF23) and other bone mineral parameters with iron status and anemia in pediatric chronic kidney disease (CKD). METHODS: Serum calcium, phosphorus, 25-hydroxyvitamin D (25(OH)D), intact parathormone, c-terminal FGF23, a-Klotho, iron (Fe), ferritin, unsaturated iron-binding capacity, and hemoglobin (Hb) were measured in 53 patients from 5 to 19 years old with GFR < 60 mL/min/1.73 m2. Transferrin saturation (TSAT) was calculated. RESULTS: Absolute (ferritin ≤ 100 ng/mL, TSAT ≤ 20%) and functional iron deficiency (ferritin > 100 ng/mL, TSAT ≤ 20%) were observed in 32% and 7.5% of patients, respectively. In CKD stages 3-4 (36 patients), lnFGF23 and 25(OH)D were correlated with Fe (rs = - 0.418, p = 0.012 and rs = 0.467, p = 0.005) and TSAT (rs = - 0.357, p = 0.035 and rs = 0.487, p = 0.003) but not to ferritin. In this patient group, lnFGF23 and 25(OH)D were correlated with Hb z-score (rs = - 0.649, p < 0.001 and rs = 0.358, p = 0.035). No correlation was detected between lnKlotho and iron parameters. In CKD stages 3-4, in multivariate backward logistic regression analysis, including bone mineral parameters, CKD stage, patient age, and daily alphacalcidol dose as covariates, lnFGF23 and 25(OH)D were associated with low TSΑΤ (15 patients) (OR 6.348, 95% CI 1.106-36.419, and OR 0.619, 95% CI 0.429-0.894, respectively); lnFGF23 was associated with low Hb (10 patients) (OR 5.747, 95% CI 1.270-26.005); while the association between 25(OH)D and low Hb did not reach statistical significance (OR 0.818, 95% CI 0.637-1.050). CONCLUSIONS: In pediatric CKD stages 3-4, iron deficiency and anemia are associated with increased FGF23, independently of Klotho. Vitamin D deficiency might contribute to iron deficiency in this population. A higher resolution version of the Graphical abstract is available as Supplementary information.

Treatment Individualization Using Pharmacokinetic Studies and Joint Ultrasound Imaging in Pediatric Patients With Hemophilia.

Hemophilia is characterized by bleeding diathesis, primarily affecting the joints. Prophylactic use of missing factor aims at limiting the number of bleeds and, in the long term, the risk of permanent joint damage. However, standard prophylactic regimens are usually applied empirically, not adjusting for variations in bleeding phenotype or drug metabolism. Aim of the present study was to evaluate the need for individualizing prophylaxis, with guidance of pharmacokinetic (PK) studies and joint ultrasound in a setting of everyday clinical practice. To evaluate adequacy of applied regimens, joint status was assessed using the Hemophilia Joint Health Score as well as ultrasound imaging, while PK studies were performed using the Web-Accessible Population Pharmacokinetic Service-Hemophilia. Imaging results were consistent with early joint damage in a large proportion of pediatric patients, whereas PK measures were indicative of inadequate prophylaxis in many cases-despite the limited number of bleeds reported by patients. The study revealed the need for prophylaxis adjustment in the majority of patients. Real world data confirm that traditional prophylaxis is often unable to achieve therapeutic goals, while an individualized approach, guided by the use of novel modalities, may be of great benefit to young hemophilia patients.

Burnout Related to Diabetes Mellitus: A Critical Analysis.

Background: Diabetes burnout is a condition when a patient with diabetes feels tired from his/her disease and neglects it for a certain period or continuously. Objective: Diabetes burnout is frequent, and there is extended literature about psychosocial stress and its negative effects on health. Methods: A search for relevant studies was conducted using PubMed, Google Scholar and ResearchGate. A systematic review was conducted on the relevant articles after critical appraisal. Only publications in English were selected. The objective of this study was to evaluate the association between burnout syndrome and diabetes mellitus. Results: This article mainly focused on studies that evaluated the presence of burnout and diabetes mellitus effects. Diabetes can influence psychological health equally with somatic strength. Relatives can also express depression, guilt, fright, worry, rage, and burnout. Psychosocial job stress and extended working hours are linked with a higher possibility of myocardial infarction, diabetes mellitus, and hypertension. Conclusion: Diabetes burnout is a combination of emotions and practices, ranging from tiredness to indifference, linked with a distressing sense of hopelessness. Revealing this health condition is necessary so that preventive measures can be taken.

Economic Distress in Families with a Member Suffering from Severe Mental Illness: Illness Burden or Financial Crisis? Evidence from Greece.

The present study aims to explore the economic distress and pertinent coping strategies in families with a member suffering from a severe mental illness. Furthermore it endeavors to gauge the impact of illness burden and that of the Greek recession on economic distress, while disentangling their contribution. In total, 190 key relatives of people with severe mental illness were recruited from community mental health services in the region of Attica. Relatives completed a self-reported questionnaire consisting of the Index of Personal Economic Distress, the Family Burden scale and the Family Rituals scale. Information on financial strategies for tackling recession and income loss due to the recession was also gleaned. Regarding economic distress, only 15% had frequent difficulty meeting routine financial demands in their household. The preponderant strategy was spending savings (56.8%). Income category and spending less on basic needs were the main predictors of economic distress. Objective poverty indices rather than burden predicted economic distress to a greater extent.

Mental Health Professionals' Attitudes to Severe Mental Illness and Its Correlates in Psychiatric Hospitals of Attica: The Role of Workers' Empathy.

To describe mental health workers' attitudes to severe mental illness and to explore its socio-demographic and professional correlates, including the influence of empathy. A total of 127 mental health staff working on the psychiatric hospitals of Attica participated in the study. Stigma was assessed with the Attitudes to Severe Mental Illness scale (ASMI) and the Greek Social Distance scale; whilst Empathy with the Interpersonal Reactivity Index. Participants' unfavourable attitudes to severe mental illness were limited to pessimism about recovery, difficulty in viewing people with mental illness as similar to other people and desire to keep distance in intimate encounters. Professional group and personal experience with mental illness were found to predict stigma. Only perspective taking was associated with both stigma measures; while Fantasy was positively correlated with social distance. Anti-stigma interventions in mental healthcare should prioritize nurses and psychiatrists and aim at enhancing perspective taking.

Exploration of the relationship between stigma and burnout among Greek nurses in dementia care.

OBJECTIVE: To investigate possible correlations between stigma and burnout of nurses and non-graduate professional caregivers of elderly with dementia in nursing homes. BACKGROUND: Research on dementia stigma in health care professionals as well as its relationship with their well-being is seriously lacking. METHODS: This cross-sectional study involved a convenience sample of 171 nurses and other professional caregivers in 16 Greek elderly care units who responded to Maslah Burnout Inventory (ΜΒΙ) as well as the Family Stigma in Alzheimer's Disease Scale (FS-ADS). In order to find adjusted associations between independent variables and the stigma and burnout of professional caregivers, multiple linear regression analysis was used. RESULTS: Cognitive, emotional and behavioural attributions of the three dimensions of stigma were found to be independent predictive factors of burnout's dimensions which indicate that stigma nurses deposit on patients, contributes towards their burnout. CONCLUSION: Educational preparation of geriatric nurses should provide them with the option of seeing dementia as a normal stage of life since reducing stigma can contribute towards preventing and managing professional burnout. IMPLICATIONS FOR NURSING MANAGEMENT: In order to reduce burnout, nurse managers should design lifelong learning programs on the basis of changing the stigmatizing negative cognitive and emotional attitudes of professionals towards dementia.

National registry of hemoglobinopathies in Greece: updated demographics, current trends in affected births, and causes of mortality.

National registries constitute an invaluable source of information and contribute to the improvement of hemoglobinopathy management. Herein, we present the second updated report of the National Registry for Haemoglobinopathies in Greece (NRHG) and critically discuss the time trends in demographics, affected births, and causes of mortality. Thirty-eight Greek hemoglobinopathy units reported data from diagnosis to the last follow-up or death by retrospectively completing an electronic form. Four thousand thirty-two patients were eligible for inclusion; more than half of them had thalassaemia major. Compared to the previous report, a reduction in the total number of all hemoglobinopathies except for hemoglobinopathy "Η" was evident. The total number of affected births was also reduced; most of them were attributable to diagnostic errors and lack of awareness. Importantly, data on iron overload are reported for the first time; although most patients had low or moderate liver iron concentration (LIC) values, a non-negligible proportion of patients had high LIC. The burden due to heart iron overload was less prominent. Cardiac- and liver-related complications are the major causes of morbidity and mortality. From 2000 to 2015, a decrease in heart-related deaths along with an increase in liver-associated fatalities was observed. The Hellenic Prevention Program along with advances in chelation regimens and iron status monitoring have resulted in improved patient outcomes. The NRHG gives insight into the effectiveness of prevention programs, the therapeutic management of hemoglobinopathies and associated outcomes. NRHG may contribute to the formulation of a roadmap for hemoglobinopathies in Europe and promote the implementation of effective public health policies.

Problem Gambling in Greece: Prevalence and Risk Factors During the Financial Crisis.

In Greece no study has ever been conducted on the prevalence of problem gambling. Therefore, a cross-sectional survey was carried out amid the recession aiming to (1) estimate past year prevalence of problem gambling, (2) explore socio-economic and demographic differences among gamblers and non gamblers, (3) explore socio-economic and demographic differences among gamblers who started gambling prior and during the downturn and (4) identify its risk factors with a special interest in the influence of the recession. To this end, data emanating from a telephone and patron survey were combined. A random and representative sample of 3.404 people participated in the telephone survey and 2.400 in the patron survey. The interview schedule was the same in both studies. The presence of problem gambling was assessed with the Canadian Problem Gambling Index. Information on participants' socio-economic and demographic characteristics as well as their ways of dealing financially with the crisis were collected. Findings indicated that 2.4% of respondents met criteria for problem gambling. Male gender, minority status, living with family of origin, low educational level and low to zero income were found to constitute the risk factors of the disorder. Moreover, having started gambling during the recession increased the odds of suffering from problem gambling; however this finding was gender-specific. Thus, people end up in problem gambling through various pathways, with these trajectories being different for men and women. Any intervention should address the complexity of the issue and be tailored by gender.

Compound Heterozygosity for Hb Adana (HBA2: c.179G>A) and the -α3.7/αα Thalassemia Deletion in Greece: Clinical Phenotype and Genetic Counseling.

Hb Adana (HBA2: c.179G>A) is found worldwide but is extremely rare and carriers are asymptomatic, with red cell indices similar to α+-thalassemia (α+-thal) carriers. First line screening tests are unable to detect the unstable hemoglobin (Hb). Coinheritance with the α-thal (-α3.7) deletion is herein presented and the challenges involving genetic counseling of couples carrying the mutations are discussed.

Efficacy of the National Thalassaemia and Sickle Cell Disease Prevention Programme in Northern Greece: 15-Year Experience, Practice and Policy Gaps for Natives and Migrants.

Hemoglobinopathies constitute the most frequent monogenic disorders worldwide and in Greece. In Greece, carrier frequency is estimated at about 8.0%, resulting in a heavy disease burden in the past. Therefore, the implementation of a national prevention program of the disease was an urgent necessity. Moreover, due to migration flow from different geographic areas in the last two decades, the observed spectrum of underlying mutations was expanded, leading to the adaptation of diagnostic approaches. We report the results of the National Thalassaemia Prevention Programme in Northern Greece, over a 15-year period (2001-2015). In total 33,837 healthy at-risk individuals (individuals or couples, 91.0% Greeks) were screened. We have screened 1598 pregnancies in 371 (23.0%) (10.0% non Greeks), of whom both parents carried gene defects and were offered genetic counseling. Seventy-six fetuses (23.0%) were predicted to be affected by severe forms of the disease. Following informed parental choices, 73 of the above pregnancies were terminated. Meanwhile, within the study period, 58 new thalassemic babies (five non Greeks) were referred to the Thalassaemia and Sickle Cell Disease Care Unit of Northern Greece, reflecting mostly parental unawareness, choice or the program failure. Based on the region's population, the birth rate and the prevalence of the disease, the anticipated number of new cases is about 45 annually. According to our data, four thalassemic newborns were registered annually at a stable rate in the last 15 years, reaching a reduction of 90.0% of new affected births. Overall, the National Thalassaemia Prevention Programme effectively decreased the incidence of affected newborns in our region.

The Greek Registry of Shwachman Diamond-Syndrome: Molecular and clinical data.

This study presents the clinical phenotype and molecular analysis findings from 11 patients recorded in the Greek Shwachman-Diamond syndrome (SDS) Registry. The most severely affected patient in our registry was diagnosed at birth and is the first patient reported to require bone marrow transplantation so early in life. Severe psoriasis, a feature not previously reported in SDS, was observed in one patient. Mutations in the Shwachman-Bodian-Diamond syndrome gene (SBDS) were found in all patients. Cytogenetic analyses revealed clonal abnormalities, one novel, in two patients.

Antipsychotic Treatment of 22q11.2 Deletion Syndrome-Related Psychoses.

In the recent study by Verhoeven and Egger, 2015 and the recent letter to the editor by Boot et al. 2015 an emphasis is given to the best possible pharmacological treatment of 22q11-2 Deletion-Syndrome related psychoses. We would like to present the case of a 23-year old Cypriot patient with 22q11.2 deletion syndrome who fulfilled criteria for treatment resistant schizophrenia (TRS). He was sequentially treated with aripiprazole, risperidone, olanzapine, haloperidol and a combination treatment with olanzapine and haloperidol. Clozapine was the only antipsychotic medication that has improved his condition.

Adolescent gambling in greater Athens area: a cross-sectional study.

PURPOSE: Problem gambling in adolescents has recently emerged as a pressing public health concern. In this context and in light of the pervasive financial crisis in Greece, the present study aimed to explore adolescents' gambling involvement in Athens region to estimate the prevalence of its problematic form and to identify its risk/protective factors. METHODS: A total of 2141 students were recruited from a representative sample of 51 schools located in greater Athens area. The presence of problem gambling was assessed through the use of the DSM-IV-MR-J questionnaire. Data were collected in the form of a self-reported questionnaire during one school hour. RESULTS: Results indicate that 1-year prevalence of high severity problem gambling was found to be 5.6%. Regarding the risk factors for problem gambling; male gender, parental engagement with gambling activities, living without the parents, low grades at school, foreign nationality and the referent absence of availability of food in the household, increased the risk of suffering from the disorder. CONCLUSION: Gambling behavior among adolescents constitutes a problem in Greece and highlights the need for designing and implementing appropriate preventive interventions, especially amid the ongoing financial crisis.

Insomnia and PTSD one month after wildfires: evidence for an independent role of the "fear of imminent death".

OBJECTIVE: The relationship of insomnia with Post-Traumatic Stress Disorder (PTSD) one month after wildfires and more specifically with the experience of 'fear of imminent death' were investigated. METHODS: Ninety-two randomly chosen victims of wildfires in the Greek province of Ilia, were assessed through a specifically designed semi-structured psychiatric interview comprising of questionnaires and scales to measure psychopathology, as well as psychosocial and environmental parameters. PTSD was set according to ICD-10 research diagnostic criteria, while insomnia was assessed with the Athens Insomnia Scale (AIS). RESULTS: The presence of insomnia was identified in 63.0% of the victims. 46.7% of the participants were diagnosed with PTSD in the first post-disaster month, while 51.1% of the total sample experienced 'fear of imminent death'. The majority of sleep complaints were significantly more frequent in subjects with PTSD. Female gender, PTSD, older age, and 'fear of imminent death' were independently associated with insomnia. CONCLUSIONS: The findings of the present study indicate that the diagnosis of insomnia, as well as, certain specific insomnia complaints were more frequent in female victims of wildfires who have experienced 'fear of imminent death' and have developed PTSD.

Enduring financial crisis in Greece: prevalence and correlates of major depression and suicidality.

PURPOSE: A series of repeated cross-sectional surveys conducted in 2008, 2009, 2011 and 2013 were conducted with the aim of estimating the prevalence of major depression and suicidality as well as of investigating its risk factors. The present report concentrates on the 2013 survey. METHODS: A random and representative sample of 2.188 people was telephone interviewed with regard to various socio-economic indicators and the presence of major depression and suicidality, which were assessed with the germane module of the Structured Clinical Interview. RESULTS: Findings suggest a rise in 1-month prevalence of major depression (12.3 %) and a decline in prevalence of suicidality (2.8 %). Female gender, residence in rural area, low educational attainment, unemployment and economic hardship were found to increase the odds of suffering from major depression. The influence of economic hardship and unemployment on suicidality was also substantial and independent of major depression. CONCLUSIONS: Results stress the imperative need for the design and implementation of social policies and interventions that would offset the dire impact of the sustained recession in Greece.

MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations.

MYH9-related disease (MYH9-RD) is a rare autosomal-dominant disorder caused by mutations in the gene for nonmuscle myosin heavy chain IIA (NMMHC-IIA). MYH9-RD is characterized by a considerable variability in clinical evolution: patients present at birth with only thrombocytopenia, but some of them subsequently develop sensorineural deafness, cataract, and/or nephropathy often leading to end-stage renal disease (ESRD). We searched for genotype-phenotype correlations in the largest series of consecutive MYH9-RD patients collected so far (255 cases from 121 families). Association of genotypes with noncongenital features was assessed by a generalized linear regression model. The analysis defined disease evolution associated to seven different MYH9 genotypes that are responsible for 85% of MYH9-RD cases. Mutations hitting residue R702 demonstrated a complete penetrance for early-onset ESRD and deafness. The p.D1424H substitution associated with high risk of developing all the noncongenital manifestations of disease. Mutations hitting a distinct hydrophobic seam in the NMMHC-IIA head domain or substitutions at R1165 associated with high risk of deafness but low risk of nephropathy or cataract. Patients with p.E1841K, p.D1424N, and C-terminal deletions had low risk of noncongenital defects. These findings are essential to patients' clinical management and genetic counseling and are discussed in view of molecular pathogenesis of MYH9-RD.