Psychometric properties of the Polish version of the eight-item Morisky Medication Adherence Scale in hypertensive adults.

Low adherence to pharmacological treatment is often associated with poor blood pressure control, but identification of nonadherent patients in outpatient settings is difficult. The aim of the study was to translate and evaluate the psychometric properties of the Polish version of the structured self-report eight-item Morisky Medication Adherence Scale (MMAS-8) among patients with hypertension. The study was conducted in a family doctor practice between January and July 2015. After a standard "forward-backward" procedure to translate MMAS-8 into Polish, the questionnaire was administered to 160 patients with hypertension. Reliability was tested using a measure of internal consistency (Cronbach's α) and test-retest reliability. Validity was confirmed using known group validity. Three levels of adherence were considered based on the following scores: 0 to <6 (low); 6 to <8 (medium); and 8 (high). Complete questionnaires were returned by 110 respondents (mean age: 60.7 years ±12.6; 54.6% were female). The mean number of pills taken daily was 3.61±4.31. The mean adherence score was 6.42± 2.0. Moderate internal consistency was found (Cronbach's α=0.81), and test-retest reliability was satisfactory (r=0.461-0.905; P<0.001). Reproducibility expressed by Cohen's κ coefficient =0.61 was good. In high-adherent patients, the percentage of well-controlled blood pressure was higher than in low-adherent patients (33.3% vs 19.1%, χ (2)=0.87, P=0.648). Psychometric evaluation of the Polish version of the MMAS-8 indicates that it is a reliable and valid measure tool to detect nonadherent patients. The MMAS-8 may be routinely used to support communication about the medication-taking behavior in hypertensive patients

The prevalence of left atrial enlargement in Polish patients with atrial fibrillation — a single center study

Background. Atrial fibrillation (AF) remains one of the major causes of cardiovascular morbidity worldwide. Left atrial enlargement (LAE) is a common risk factor of AF. Left atrial enlargement is also connected with a higher prevalence of heart failure in AF patients. The aim of this study was to assess the prevalence of LAE in Polish patients with AF. Material and methods. Transthoracic echocardiography was performed in consecutive AF patients hospitalized in the Department of Heart Diseases. We assessed LAE using a two-dimensional method. Left atrial (LA) size was classified into the 4 categories: normal (LAE values < 39 mm in women and < 41 mm in men), mildly enlarged (39–42 mm in women and 41–46 mm in men), moderately enlarged (43–46 mm in women and 47–51 mm in men), and severely enlarged (≥ 47 mm in women and ≥ 52 mm in men). Results. We analyzed 113 individuals with AF (mean age 77.2 ± 9.8 years; 37.2% men). Of these, 71 (62.8%) patients had LAE (age 77.6 ± 9.9 years; 36.6% men). LA was mildly enlarged (39–42 mm in women and 41–46 mm in men) in 20 (28.2%) patients, moderately enlarged (43–46 mm in women and 47–51 mm in men) was observed in 30 (42.3%), and severely enlarged (≥ 47 mm in women and ≥ 52 mm in men) in 21 (29.6%) patients. The incidence of heart failure was significantly higher in AF patients with LAE [39 (54.9%) compared to the patients without LAE — 12 (28.6%) p = 0.01]. Conclusions. In patients with AF, LAE was highly prevalent. Patients with AF and LAE have more often HF compared to AF patients without LAE

Granulomatosis with Polyangiitis with Bilateral Facial Palsy and Severe Mixed Hearing Loss

Granulomatosis with polyangiitis is autoimmune and rare disease. It affects many organs, but the most often affected organs are the nose, lungs, and kidneys. It is part of vasculitis and causes an autoimmune attack by an abnormal type of circulating antibody termed ANCAs against small blood vessels. Disease concerns both men and women with a peak age of presentation in the sixth and seven decades. Typically upper and lower respiratory tract and kidneys are involved. Otitis externa, otitis media, or mastoiditis rarely occurs in granulomatosis with polyangiitis. Deafness is the most dangerous aural complication. Histological examination of biopsy is often not specific. A case of GPA with bilateral otitis media, bilateral deafness, and bilateral facial palsy with fatal course is presented

NuA4 and H2A.Z control environmental responses and autotrophic growth in Arabidopsis.

Nucleosomal acetyltransferase of H4 (NuA4) is an essential transcriptional coactivator in eukaryotes, but remains poorly characterized in plants. Here, we describe Arabidopsis homologs of the NuA4 scaffold proteins Enhancer of Polycomb-Like 1 (AtEPL1) and Esa1-Associated Factor 1 (AtEAF1). Loss of AtEAF1 results in inhibition of growth and chloroplast development. These effects are stronger in the Atepl1 mutant and are further enhanced by loss of Golden2-Like (GLK) transcription factors, suggesting that NuA4 activates nuclear plastid genes alongside GLK. We demonstrate that AtEPL1 is necessary for nucleosomal acetylation of histones H4 and H2A.Z by NuA4 in vitro. These chromatin marks are diminished genome-wide in Atepl1, while another active chromatin mark, H3K9 acetylation (H3K9ac), is locally enhanced. Expression of many chloroplast-related genes depends on NuA4, as they are downregulated with loss of H4ac and H2A.Zac. Finally, we demonstrate that NuA4 promotes H2A.Z deposition and by doing so prevents spurious activation of stress response genes

Ten years of the Hunter Outcome Survey (HOS) : insights, achievements, and lessons learned from a global patient registry

Mucopolysaccharidosis type II (MPS II; Hunter syndrome; OMIM 309900) is a rare lysosomal storage disease with progressive multisystem manifestations caused by deficient activity of the enzyme iduronate-2-sulfatase. Diseasespecific treatment is available in the form of enzyme replacement therapy with intravenous idursulfase (Elaprase®, Shire). Since 2005, the Hunter Outcome Survey (HOS) has collected real-world, long-term data on the safety and effectiveness of this therapy, as well as the natural history of MPS II. Individuals with a confirmed diagnosis of MPS II who are untreated or who are receiving/have received treatment with idursulfase or bone marrow transplant can be enrolled in HOS. A broad range of disease- and treatment-related information is captured in the registry and, over the past decade, data from more than 1000 patients from 124 clinics in 29 countries have been collected. Evidence generated from HOS has helped to improve our understanding of disease progression in both treated and untreated patients and has extended findings from the formal clinical trials of idursulfase. As a long-term, global, observational registry, various challenges relating to data collection, entry, and analysis have been encountered. These have resulted in changes to the HOS database platform, and novel approaches to maximize the value of the information collected will also be needed in the future. The continued evolution of the registry should help to ensure that HOS provides further insights into the burden of the disease and patient care and management in the coming years

Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function : Update of 34 patients

BackgroundTransaldolase deficiency (TALDO-D) is a rare autosomal recessive inborn error of the pentose phosphate pathway. Since its first description in 2001, several case reports have been published, but there has been no comprehensive overview of phenotype, genotype, and phenotype-genotype correlation. MethodsWe performed a retrospective questionnaire and literature study of clinical, biochemical, and molecular data of 34 patients from 25 families with proven TALDO-D. In some patients, endocrine abnormalities have been found. To further evaluate these abnormalities, we performed biochemical investigations on blood of 14 patients. Results and conclusionsMost patients (n =22) had an early-onset presentation (prenatally or before 1 month of age); 12 patients had a late-onset presentation (3 months to 9 years). Main presenting symptoms were intrauterine growth restriction, dysmorphic facial features, congenital heart disease, anemia, thrombocytopenia, and hepato(spleno)megaly. An older sib of two affected patients was asymptomatic until the age of 9 years, and only after molecular diagnosis was hepatomegaly noted. In some patients, there was gonadal dysfunction with low levels of testosterone and secondary luteinizing hormone (LH) and follicle-stimulating hormone (FSH) abnormalities later in life. This overview provides information that can be helpful for managing patients and counseling families regarding prognosis. Diagnostic guidelines, possible genotype-phenotype correlations, treatment options, and pathophysiological disease mechanisms are proposed.Peer reviewe

Anemia in Patients With Resistance to Thyroid Hormone α: A Role for Thyroid Hormone Receptor α in Human Erythropoiesis

Context: Patients with resistance to thyroid hormone (TH) α (RTHα) are characterized by growth retardation, macrocephaly, constipation, and abnormal thyroid function tests. In addition, almost all RTHα patients have mild anemia, the pathogenesis of which is unknown. Animal studies suggest an important role for TH and TH receptor (TR)α in erythropoiesis.Objective: To investigate whether a defect in TRα affects the maturation of red blood cells in RTHα patients.Design, Setting, and Patients: Cultures of primary human erythroid progenitor cells (HEPs), from peripheral blood of RTHα patients (n = 11) harboring different inactivating mutations in TRα (P398R, F397fs406X, C392X, R384H, A382fs388X, A263V, A263S), were compared with healthy controls (n = 11). During differentiation, erythroid cells become smaller, accumulate hemoglobin, and express different cell surface markers. We assessed cell number and cell size, and used cell staining and fluorescence-activated cell sorter analysis to monitor maturation at different time points.Results: After ∼14 days of ex vivo expansion, both control and patient-derived progenitors differentiated spontaneously. However, RTHα-derived cells differentiated more slowly. During spontaneous differentiation, RTHα-derived HEPs were larger, more positive for c-Kit (a proliferation marker), and less positive for glycophorin A (a differentiation marker). The degree of abnormal spontaneous maturation of RTHα-derived progenitors did not correlate with severity of underlying TRα defect. Both control and RTHα-derived progenitors responded similarly when differentiation was induced. T3 exposure accelerated differentiation of both control- and RTHα patient-derived HEPs.Conclusions: Inactivating mutations in human TRα affect the balance between proliferation and differentiation of progenitor cells d