The Danish schizophrenia registry

AIM OF DATABASE: To systematically monitor and improve the quality of treatment and care of patients with schizophrenia in Denmark. In addition, the database is accessible as a resource for research. STUDY POPULATION: Patients diagnosed with schizophrenia and receiving mental health care in psychiatric hospitals or outpatient clinics. During the first year after the diagnosis, patients are classified as incident patients, and after this period as prevalent patients. MAIN VARIABLES: The registry currently contains 21 clinical quality measures in relation to the following domains: diagnostic evaluation, antipsychotic treatment including adverse reactions, cardiovascular risk factors including laboratory values, family intervention, psychoeducation, postdischarge mental health care, assessment of suicide risk in relation to discharge, and assessment of global functioning. DESCRIPTIVE DATA: The recorded data are available electronically for the reporting clinicians and responsible administrative personnel, and they are updated monthly. The registry publishes the national and regional results of all included quality measures in the annual audit reports. External researchers may obtain access to the data for use in specific research projects by applying to the steering committee. CONCLUSION: The Danish Schizophrenia Registry represents a valuable source of informative data to monitor and improve the quality of care of patients with schizophrenia in Denmark. However, continuous resources and time devoted is necessary to maintain the integrity of the registry and the validity of the data

Infecção por Corynebacterium equi em Lhama ( Lama glama)

The infection of C. equi in a adult female llama maintained in the Brasilia zoo, has been described. The general symptoms of the disease were initially masked by a previous ocular affection. Then, marked respiratory disturbances became evident before the animal died. Post mortem findings revealed multiple abscesses, varying is size and disseminated in both lungs. There were also miliary foci in liver and spleen. C. equi was isolated in pure culture from the yellowish caseous pus. This seems to be the first description of a C. equi infection in a llama.É relatado o achado de infecção por Corynebacterium aqui em uma lhama (Lama glama L. 1758) fêmea, adulta, mantida no Jardim Zoológico de Brasília. O quadro clínico, mascarado por afecção ocular, deixou evidenciar apenas distúrbios respiratórios no final da doença. A necropsia revelou a presença de abscessos múltiplos, de vários tamanhos, nos dois pulmões, e focos miliares no fígado e no baço. O exame bacteriológico do pus e massas caseosas amareladas permitiu o isolamento direto, em cultura pura, do Corynebacterium equi. Parece que a infecção por C. equi ainda não havia sido assinalada nesta espécie animal

The Danish registry of diabetic retinopathy

AIM OF DATABASE: To monitor the development of diabetic eye disease in Denmark and to evaluate the accessibility and effectiveness of diabetic eye screening programs with focus on interregional variations. TARGET POPULATION: The target population includes all patients diagnosed with diabetes. Denmark (5.5 million inhabitants) has ~320,000 diabetes patients with an annual increase of 27,000 newly diagnosed patients. The Danish Registry of Diabetic Retinopathy (DiaBase) collects data on all diabetes patients aged ≥18 years who attend screening for diabetic eye disease in hospital eye departments and in private ophthalmological practice. In 2014–2015, DiaBase included data collected from 77,968 diabetes patients. MAIN VARIABLES: The main variables provide data for calculation of performance indicators to monitor the quality of diabetic eye screening and development of diabetic retinopathy. Data with respect to age, sex, best corrected visual acuity, screening frequency, grading of diabetic retinopathy and maculopathy at each visit, progression/regression of diabetic eye disease, and prevalence of blindness were obtained. Data analysis from DiaBase’s latest annual report (2014–2015) indicates that the prevalence of no diabetic retinopathy, nonproliferative diabetic retinopathy, and proliferative diabetic retinopathy is 78%, 18%, and 4%, respectively. The percentage of patients without diabetic maculopathy is 97%. The proportion of patients with regression of diabetic retinopathy (20%) is greater than the proportion of patients with progression of diabetic retinopathy (10%). CONCLUSION: The collection of data from diabetic eye screening is still expanding in Denmark. Analysis of the data collected during the period 2014–2015 reveals an overall decrease of diabetic retinopathy compared to the previous year, although the number of patients newly diagnosed with diabetes has been increasing in Denmark. DiaBase is a useful tool to observe the quality of screening, prevalence, and progression/regression of diabetic eye disease

Investigating the causal effect of smoking on hay fever and asthma: a Mendelian randomization meta-analysis in the CARTA consortium

AbstractObservational studies on smoking and risk of hay fever and asthma have shown inconsistent results. However, observational studies may be biased by confounding and reverse causation. Mendelian randomization uses genetic variants as markers of exposures to examine causal effects. We examined the causal effect of smoking on hay fever and asthma by using the smoking-associated single nucleotide polymorphism (SNP) rs16969968/rs1051730. We included 231,020 participants from 22 population-based studies. Observational analyses showed that current vs never smokers had lower risk of hay fever (odds ratio (OR) = 0·68, 95% confidence interval (CI): 0·61, 0·76; P &lt; 0·001) and allergic sensitization (OR = 0·74, 95% CI: 0·64, 0·86; P &lt; 0·001), but similar asthma risk (OR = 1·00, 95% CI: 0·91, 1·09; P = 0·967). Mendelian randomization analyses in current smokers showed a slightly lower risk of hay fever (OR = 0·958, 95% CI: 0·920, 0·998; P = 0·041), a lower risk of allergic sensitization (OR = 0·92, 95% CI: 0·84, 1·02; P = 0·117), but higher risk of asthma (OR = 1·06, 95% CI: 1·01, 1·11; P = 0·020) per smoking-increasing allele. Our results suggest that smoking may be causally related to a higher risk of asthma and a slightly lower risk of hay fever. However, the adverse events associated with smoking limit its clinical significance.</jats:p

Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation.

Thyroid dysfunction is an important public health problem, which affects 10% of the general population and increases the risk of cardiovascular morbidity and mortality. Many aspects of thyroid hormone regulation have only partly been elucidated, including its transport, metabolism, and genetic determinants. Here we report a large meta-analysis of genome-wide association studies for thyroid function and dysfunction, testing 8 million genetic variants in up to 72,167 individuals. One-hundred-and-nine independent genetic variants are associated with these traits. A genetic risk score, calculated to assess their combined effects on clinical end points, shows significant associations with increased risk of both overt (Graves' disease) and subclinical thyroid disease, as well as clinical complications. By functional follow-up on selected signals, we identify a novel thyroid hormone transporter (SLC17A4) and a metabolizing enzyme (AADAT). Together, these results provide new knowledge about thyroid hormone physiology and disease, opening new possibilities for therapeutic targets

A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation

To characterize the genetic basis of facial features in Latin Americans, we performed a genome-wide association study (GWAS) of more than 6000 individuals using 59 landmark-based measurements from two-dimensional profile photographs and ~9,000,000 genotyped or imputed single-nucleotide polymorphisms. We detected significant association of 32 traits with at least 1 (and up to 6) of 32 different genomic regions, more than doubling the number of robustly associated face morphology loci reported until now (from 11 to 23). These GWAS hits are strongly enriched in regulatory sequences active specifically during craniofacial development. The associated region in 1p12 includes a tract of archaic adaptive introgression, with a Denisovan haplotype common in Native Americans affecting particularly lip thickness. Among the nine previously unidentified face morphology loci we identified is the VPS13B gene region, and we show that variants in this region also affect midfacial morphology in mice

The Danish national database for obstructive sleep apnea

AIM: The aim of the Danish National Database for Obstructive Sleep Apnea (NDOSA) was to evaluate the clinical quality (diagnostic, treatment, and management) for obstructive sleep apnea and obesity hypoventilation syndrome in Denmark using a real-time national database reporting to the Danish National Patient Registry. STUDY POPULATION: All patients diagnosed with obstructive sleep apnea or obesity hypoventilation syndrome at public and private in- and out-hospital departments in Denmark were included. MAIN VARIABLES: The NDOSA contains information about baseline characteristics, comorbidity, diagnostic procedures conducted, treatment (continuous positive airway pressure and similar treatments, surgery, mandibular advancement devices, etc) complications, and treatment status. DESCRIPTIVE DATA: Yearly report with indicators for diagnostic procedures, treatment, and follow-up comparing different departments was involved in the management of sleep apnea in Denmark for the purpose of quality improvement. CONCLUSION: The NDOSA has proven to be a real-time national database using diagnostic and treatment procedures reported to the Danish National Patient Registry

Linfadenites tuberculóides em suínos de abate da região de Brasília

The macroscopic inspection of the cervical lymph nodes of 1,090 slaughtered pigs from Brasília showed tuberculous-like lesions in 53 (4.8%) animals. The bacteriological examination permitted the isolation of bacterial cultures from only 16 (30.2%) of this lesions. There were identified one strain of Micobacterium tubercoulosis, 3 M. intracellulare, serotype Dent, 4 M. terrae, one M. abscessus, one M. scrofulaceum, 5 Corynebacterium equi, and one of each C. pyogenes, Streptococcus pyogenes and Staphylococcus aureus. Twice two cultures were associated. The possible cause of the reduced number of isolations of atypical mycobacteria from the tuberculous-like lesions of the pigs of the Brasilia region are discussed.O exame macroscópico dos gânglios linfáticos cervicais de 1.090 suínos abatidos em Brasília revelou a presença de lesões tuberculóides em 53 (4,8%) animais. O exame bacteriológico dos órgãos lesados permitiu o isolamento de microrganismos de apenas 16 (30,2%) casos. Foram identificadas uma amostra de Mycobacterium tuberculosis, 3 de M. intracellulare, 4 de M. terrae, uma de M. abscessus, uma de M. scrofulaceum, 5 de Corynebacterium equi e uma de C. pyogenes, Streptococcus pyogenes e Staphylococcus aureus. Em dois materiais foram isoladas duas culturas associadas. São discutidas as prováveis causas responsáveis pelo reduzido número de isolamentos de micobactérias atípicas das lesões tuberculóides dos animais da região