Data of a sub-analysis of the DEMDATA study: characteristics of Austrian and Czech nursing homes residents.

OBJECTIVES: The aim of this data paper is to provide the data set of a sub-analysis of the DEMDATA study data. In the DEMDATA study, epidemiological data on the prevalence and severity of dementia, as well as functioning, behavioral problems and other health related factors in residents living in Austrian and Czech nursing homes were collected. The DEMDATA project further provides information on relatives' perception of the life Quality of residents, care team burden as well as environmental factors. Participating nursing homes were randomly drawn and stratified. Inclusion criteria for participation were that the resident was living permanently in the institution and that he/she and/or a legal representative (where relevant) had signed an informed consent. DATA DESCRIPTION: This paper provides data of cognitive, functional and behavioral assessments as well as other health related information of 1085 residents living in Austrian and Czech nursing homes. For each resident, several measurements on his or her cognitive, functional, and behavioral status are available. Also further health-related factors such as quality of life, pain, numbers of falls and hospital stays are provided.

Cognitive status and use of analgesics and anxiolytics in residents of nursing homes in the Czech Republic.

BACKGROUND: The treatment of pain and treatment of anxiety are two of the most complex issues in nursing homes worldwide, mainly because of the large numbers of people with cognitive impairment who reside in this environment. AIM: The aim of this study was to investigate the administration of analgesics and anxiolytics to people living in nursing homes, taking into account cognitive status. METHODS: For this cross-sectional study, we used data from 404 residents who lived in nine randomly selected nursing homes in the Czech Republic and participated in the Czech-Austrian Long-Term Care Research Project called DEMDATA. Information about medication administration was obtained from medical records. Cognitive impairment was evaluated by the Mini-Mental State Examination, and pain was measured by the Pain Assessment in Advanced Dementia. To measure anxiety, we used the Behavioral Pathology in Alzheimer's Disease Rating Scale in residents with severe-to-moderate dementia and also the standardized questionnaire EuroQol in other residents. RESULTS: In all, 68% (95% CI 62-74) of residents with pain did not receive any analgesic medication and 31% (95% CI 25-38) of residents were administered some analgesics and continued to report pain. The lowest reported occurrence of pain, as well as the lowest prevalence of analgesic administration, was in residents with moderate-to-severe dementia. We found that an alarming percentage of residents in the nursing homes were not treated sufficiently. CONCLUSION: This study indicates that treatment effects should be better monitored.

Use of beta-blocker is associated with lower mortality in patients with coronary artery disease with or without COPD.

INTRODUCTION: Beta-blockers are indicated for secondary prevention of coronary artery disease (CAD). However, in patients with co-morbidity of chronic obstructive pulmonary disease (COPD) an underuse of beta-blocker has been reported. MATERIALS AND METHODS: Prescription and demographic data and information on hospital discharge diagnoses from 13 Austrian health insurance funds for the years 2006-2007 were analyzed. The primary end point was all-cause mortality of patients with CAD with or without COPD and its association with use of beta-blockers. RESULTS: In 2006 and 2007, 65717 patients (37% female, 63% male) were discharged with a diagnosis of CAD. Among these patients, 46% had a co-diagnosis of COPD, 24% had diabetes, and 75% received beta-blockers. Use of beta-blockers was comparable in CAD patients with COPD and without COPD with 77% and 74%, respectively. Thousand eight hundred seventy-two (8.1%) and 1473 (5.6%) patients with and without COPD, who used beta-blockers died within months in 2006 and 2007. Thousand five hundred fifty-three (22.0%) and 1862 (22.2%) of patients with and without COPD and without beta-blockers died during the corresponding time period. DISCUSSION: Use of beta-blockers was similar in patients with CAD with or without co-diagnosis of COPD. However, mortality of beta-blocker users was markedly lower than that of nonusers in patients with CAD with or without COPD.

Cross-sectional study of prevalence of dementia, behavioural symptoms, mobility, pain and other health parameters in nursing homes in Austria and the Czech Republic: results from the DEMDATA project.

BACKGROUND: This paper provides a first comparative exploratory analysis of our findings from DEMDATA, a collaborative project between Austria and the Czech Republic. Analysed here are data from the residents and the environment assessment protocol. METHODS: In a cross sectional study design, residents from randomly drawn and stratified nursing homes were investigated using a common study protocol. RESULTS: From a total resident pool of 1666 persons, 1085 (571 in Austria, 514 in the Czech Republic) persons signed a consent form and participated in the data collection. More than 70% of residents assessed were female and the population was on average 85 years old. A discrepancy between the presence of a medical diagnosis in the charts of the residents and the results of cognitive testing was found. In Austria, 85.2%, in the Czech Republic 53.0% of residents had cognitive impairment. In Austria 80.0%, and in the Czech Republic 56.7% had behavioural problems. With respect to pain, 44.8% in Austria, and 51.5% in the Czech Republic had mild to severe pain. 78.4% of Austrian and 74.5% of the residents had problems with mobility and both populations were in danger of malnutrition. CONCLUSIONS: Most of the prevalence rates are comparable with previous studies also using direct resident assessment. Variations in prevalence rates seem to result mainly from the assessment technique (direct cognitive testing vs. medical chart review). The high prevalence rates for dementia, behavioural symptoms, pain and malnutrition indicate an immediate call for attention to further research and practice development.

Systematic dysphagia screening and dietary modifications to reduce stroke-associated pneumonia rates in a stroke-unit.

BACKGROUND AND PURPOSE: While formal screening for dysphagia following acute stroke is strongly recommended, there is little evidence on how multi-consistency screening and dietary modifications affect the rate of stroke-associated pneumonia (SAP). This observational study reports which factors affect formal screening on a stroke-unit and how dietary recommendations relate to SAP. METHOD: Analyses from a database including 1394 patients admitted with acute stroke at our stroke-unit in Austria between 2012 and 2014. Dietary modifications were performed following the recommendations from the Gugging Swallowing Screen (GUSS). Patients evaluated with GUSS were compared to the unscreened patients. RESULTS: Overall, 993 (71.2%) patients were screened with GUSS; of these 50 (5.0%) developed SAP. In the 401 unscreened patients, the SAP rate was similar: 22 (5.5%). Multivariable analysis showed that either mild to very mild strokes or very severe strokes were less likely to undergo formal screening. Older age, pre-existing disability, history of hypertension, atrial fibrillation, stroke severity, cardiological and neurological complications, nasogastric tubes, and intubation were significant markers for SAP. Out of 216 patients, 30 (13.9%) developed SAP in spite of receiving nil per mouth (NPO). CONCLUSION: The routine use of GUSS is less often applied in either mild strokes or very severe strokes. While most patients with high risk of SAP were identified by GUSS and assigned to NPO, dietary modifications could not prevent SAP in 1 of 7 cases. Other causes of SAP such as silent aspiration, bacteraemia or central breathing disturbances should be considered.

DEMDATA: The Austrian-Czech institutional long term care project - design and protocol of a two-centre cross sectional study.

BACKGROUND: The organization of long-term care is one of the main challenges of public health and health policies in Europe and worldwide, especially in terms of care concepts for people with dementia. In Austria and the Czech Republic the majority of elderly institutionalized persons with dementia are cared for in nursing homes. It is however unclear, how many persons living in nursing homes in Austria and in the Czech Republic are suffering from cognitive impairment and dementia. In addition, basic information on the nutritional status, the status of mobility and the medication prescription patterns are often missing. To facilitate new effective and evidenced based care concepts, basic epidemiological data are in urgent need. Thus, DEMDATA was initiated to provide important basic data on persons living in nursing homes in Austria and the Czech Republic for future care planning. METHODS: DEMDATA is a multicentre mixed methods cross-sectional study. Stratified and randomly drawn nursing homes in Austria and the Czech Republic are surveyed. The study protocol used in both study centres assesses four different domains: a) Resident, b) Care team, c) Relative and d) Environmental Factors. Resident's data include among others health status, cognition, dementia, mobility, nutrition, behavioural symptoms, pain intensity and quality of life. A minimum of 500 residents per country are included into the study (N = 1000 residents). The care team is asked about the use of the person-centred care and their burden. The relatives are asked about the number of visits and proxy-rate the quality of life of their family member. All staff employed in the nursing homes, all residents and relatives can voluntary take part in the study. The environmental factors include among others the organisational category of the nursing home, number of residents, number of rooms, social activities and the care concept. The project started in March 2016 and will be concluded in February 2018. DISCUSSION: DEMDATA will provide important epidemiological data on four different nursing home domains in Austria and the Czech Republic, with a focus on the prevalence of dementia in this population. Thereby supplying decision and policy makers with important foundation for future care planning.

A novel GJA 1 mutation in oculo-dento-digital dysplasia with curly hair and hyperkeratosis.

Oculo-dento-digital dysplasia (ODDD) is a rare autosomal dominant congenital disorder mainly affecting the development of the face, eyes, skeletal system, heart and dentition. ODDD has been mapped to chromosome 6q22-q24 and germline mutations have been identified in the connexin 43 gene, GJA1. Abnormalities of the skin, hair, and nails have been recognized in ODDD but are often easily overlooked. We report an ODDD patient with curly hair, early trichorrhexis nodosa and discrete keratoderma. Molecular genetic studies revealed a novel GJA1 mutation affecting the amino terminus of the gap junction protein alpha-1 (Cx43). In the light of the cutaneous findings in our patient and based on recent ectodermal dysplasia classification systems, we propose to include ODDD in the group of ectodermal dysplasias.

Netherton syndrome with extensive skin peeling and failure to thrive due to a homozygous frameshift mutation in SPINK5.

BACKGROUND: Netherton syndrome (NTS) is a rare autosomal recessive multisystem disorder characterized by congenital erythroderma and ichthyosis, hair shaft abnormalities and immune dysregulation. The disorder is caused by deleterious mutations in the SPINK5 gene, encoding the serine protease inhibitor LEKTI. OBJECTIVE: Our objective was to investigate if the erythrodermic variant of peeling skin syndrome is also caused by SPINK5 mutations and to study the consequences of the disease on infantile brain development. METHODS: In an infant with extensive erythroderma, peeling skin and failure to thrive, we analyzed the SPINK5 gene for pathogenic mutations by direct DNA sequencing and performed repeated brain MRI studies with diffusion-weighted imaging. RESULTS: We identified a homozygous 4-base-pair insertion in exon 5 of SPINK5, which introduces a premature termination codon and appears to be a common mutation among West Indies islanders. MRI analyses revealed a persistent diffuse volume loss. CONCLUSION: Our results confirm that early truncation mutations of the coding sequence of SPINK5 produce a severe phenotype and that generalized peeling skin is one of the manifestations of NTS. We further demonstrate for the first time that NTS may be associated with MRI abnormalities indicative of a permanent tissue injury of the brain.

Bigenic connexin mutations in a patient with hidrotic ectodermal dysplasia.

Gap junctions are formed by a polygenic family of more than 20 different connexin proteins. They mediate intercellular communication via the direct exchange of ions, metabolites and secondary messengers, thus controlling and coordinating cellular activities. Mutations in five gap junction genes, including GJB2 (Cx26), GJB3 (Cx31), GJB4 (Cx30.3), GJB6 (Cx30) and GJA1 (Cx43) are known to cause inherited hearing loss and/or disorders of the skin and its appendages, often giving rise to overlapping phenotypes. In this study we present a patient with hidrotic ectodermal dysplasia, who had abortive features of oculo-dento-digital dysplasia, extensive hyperkeratosis of the skin. The patient harbored a novel sporadic mutation (V41L) in GJA1 (Cx43) as well as a heterozygous coding variant (R127H) of GJB2 (Cx26). Our findings suggest that GJA1 mutations can produce variable clinical phenotypes on the background of sequence variants in other connexins.

Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia.

Connexins are integral membrane proteins forming aqueous gap junction channels that allow the diffusional exchange of ions and small metabolites between cells, thus coordinating metabolic activities in multicellular tissues. Dominant mutations in the Cx26 gene GJB2 have been shown to cause keratitis-ichthyosis-deafness (KID) syndrome, palmoplantar keratoderma associated with hearing loss, and Vohwinkel syndrome. Missense mutations in the closely related Cx30 gene GJB6 underlie Clouston syndrome (autosomal dominant hidrotic ectodermal dysplasia). We report a 6-y-old boy with phenotypic characteristics of KID syndrome as well as atrichia. In contrast to other KID syndrome patients, molecular analysis of the connexin gene GJB2 did not disclose a pathogenic mutation, although the patient was homozygous for a common polymorphism (V27I) in the coding sequence of Cx26. Nevertheless, screening of GJB6 revealed a heterozygous missense mutation (V37E) predicted to alter sequence and charge of the first transmembrane helix of Cx30, which was previously implicated in Clouston syndrome (Smith et al, 2002). The presence of a pathogenic Cx30 mutation and the lack of a pathologic molecular change in Cx26 in this patient, whose clinical features predominantly resemble KID syndrome, suggest genetic heterogeneity of KID syndrome and underscore that mutations in Cx30, similar to those in Cx26 or Cx31, can cause different phenotypes. Based on our results, connexin gene mutations should be considered in patients presenting with congenital sensorineural hearing loss and disorders of cornification, and screening of several connexin genes with known cutaneous phenotype, such as those for Cx26, Cx30, Cx30.3, and Cx31, may be required.

Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis.

Familial tumoral calcinosis (FTC; OMIM 211900) is a severe autosomal recessive metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues. Using linkage analysis, we mapped the gene underlying FTC to 2q24-q31. This region includes the gene GALNT3, which encodes a glycosyltransferase responsible for initiating mucin-type O-glycosylation. Sequence analysis of GALNT3 identified biallelic deleterious mutations in all individuals with FTC, suggesting that defective post-translational modification underlies the disease.

The effect of aerial parts of Echinacea on the circulating white cell levels and selected immune functions of the aging male Sprague-Dawley rat.

Echinacea is one of the most widely used over-the-counter herbal preparations that purport to "improve immune system function", especially when taken as a short course of therapy (6-8 weeks). Since many purchasers are older individuals, a double-blind, placebo-controlled study was performed to investigate whether Echinacea could affect total and differential white cell counts, phagocytic activity and interleukin (IL-2) levels in 12-month-old, healthy, male Sprague-Dawley rats when administered over an 8-week period. Echinacea (50 mg/kg of aerial parts) mixed with peanut butter or peanut butter alone was fed to 16 rats, which were receiving regular food and water ad libitum. Cell counts and immune functions were determined on rat tail vein blood on a weekly basis. Echinacea significantly increased circulating total white cell counts during the first 2 weeks of administration, and IL-2 levels during the final 5 weeks of the study period (p<0.05). Differential counts were altered during the entire 8-week study, with mononuclear cells significantly increased to the detriment of granulocytes (p<0.05). No such changes were observed in animals given peanut butter alone. No difference was observed in phagocytic function between animals given Echinacea or peanut butter alone. These studies suggest that aerial components of Echinacea affect both mononuclear cell levels and circulating IL-2 levels in older animals.