Acute neurological care in north-east Germany with telemedicine support (ANNOTeM): protocol of a multi-center, controlled, open-label, two-arm intervention study.

BACKGROUND: Both diagnosis and treatment of neurological emergencies require neurological expertise and are time-sensitive. The lack of fast neurological expertise in regions with underserved infrastructure poses a major barrier for state-of-the-art care of patients with acute neurological diseases and leads to disparity in provision of health care. The main purpose of ANNOTeM (acute neurological care in North East Germany with telemedicine support) is to establish effective and sustainable support structures for evidence based treatments for stroke and other neurological emergencies and to improve outcome for acute neurological diseases in these rural regions. METHODS: A "hub-and-spoke" network structure was implemented connecting three academic neurological centres ("hubs") and rural hospitals ("spokes") caring for neurological emergencies. The network structure includes (1) the establishment of a 24/7 telemedicine consultation service, (2) the implementation of standardized operating procedures (SOPs) in the network hospitals, (3) a multiprofessional training scheme, and (4) a quality management program. Data from three major health insurance companies as well as data from the quality management program are being collected and evaluated. Primary outcome is the composite of first time of receiving paid outpatient nursing care, first time of receiving care in a nursing home, or death within 90 days after hospital admission. DISCUSSION: Beyond stroke only few studies have assessed the effects of telemedically supported networks on diagnosis and outcome of neurological emergencies. ANNOTeM will provide information whether this approach leads to improved outcome. In addition, a health economic analysis will be performed. STUDY REGISTRATION: German Clinical Trials Register DRKS00013067, date of registration: November 16 th, 2017, URL: http://www.drks.de/DRKS00013068.

Suppressor of cytokine signaling-3 is affected in T-cells from tuberculosisTB patients.

T-cells and T-cell-derived cytokines are crucial mediators of protection against Mycobacterium tuberculosis infection, but these factors are insufficient as biomarkers for disease susceptibility. In order to define T-cell molecules involved in tuberculosis (TB), we compared gene expression profiles of T-cells from patients with active TB, healthy donors with latent M. tuberculosis infection (LTBIs) and non-infected healthy donors (NIDs) by microarray analysis. Pathway-focused analyses identified a prevalent subset of candidate genes involved in the Janus kinase (JAK)-signal transducer and activator of transcription signalling pathway, including those encoding suppressor of cytokine signalling (SOCS) molecules, in the subset of protection-associated genes. Differential expression was verified by quantitative PCR analysis for the cytokine-inducible SH2-containing protein (CISH), SOCS3, JAK3, interleukin-2 receptor α-chain (IL2RA), and the proto-oncogene serine/threonine protein kinase (PIM1). Classification analyses revealed that this set of molecules was able to discriminate efficiently between T-cells from TB patients and those from LTBIs, and, notably, to achieve optimal discrimination between LTBIs and NIDs. Further characterization by quantitative PCR revealed highly variable candidate gene expression in CD4(+) and CD8(+) T-cells from TB patients and only minor differences between CD4(+) and CD8(+) T-cell subpopulations. These results point to a role of cytokine receptor signalling regulation in T-cells in susceptibility to TB.

[Post exercise myalgias as presentation form of dystrophinopathy]. / Mialgias post ejercicio como forma de presentación de una distrofinopatía.

Cramps and myalgias are frequent presentations of many disorders whose diagnosis is generally difficult. Among the unusual causes stand the milder phenotypes of dystrophinopathies, which are caused, just as Duchenne and Becker's dystrophy, by mutations in the dystrophin gene. An 8 year-old boy presented severe muscle pain on exercise and serum rise in creatine kinase over 1000 U/l. He had normal muscle power and mild calf hypertrophy. The molecular analysis by polymerase chain reaction (PCR) of the dystrophin gene showed deletions of exons 45 to 51. Dystrophin analysis by Western blot revealed a dystrophin of reduced quantity and molecular weight. Emphasis is made to include dystrophinopathies in the differential diagnosis of myalgias and the usefulness of molecular genetic techniques in the identification of these disorders.

[Delayed diagnosis of Duchenne muscular dystrophy in Chile]. / Tardanza en el diagnóstico de la distrofia muscular de Duchenne en Chile.

BACKGROUND: Duchenne muscular dystrophy is the most frequent neuromuscular disease in children. AIM: To determine the causes of delayed diagnosis of the disease. PATIENTS AND METHODS: The clinical records of 61 children diagnosed as Duchenne progressive muscular dystrophy were analyzed. RESULTS: the first symptoms of the disease were noticed at a mean age of 1.5 years. Parents consulted at the mean age of 3 years, but the accurate diagnosis was made at a mean age of 5.7 years. In only 15% of children, the disease was diagnosed in the first four years of age. Less than 20% of children were referred for an adequate study and the rest were managed mainly as flat feet. CONCLUSIONS: Duchenne dystrophy is the most common neuromuscular disorder in children, with an incidence of 1 in 3679 male newborns. The lack of recognition of non specific symptoms such as retardation in independent walking and frequent falls as forms of presentation, is probably the most important cause of diagnostic delay. Strong recommendation is made to measure creatinphosphokinase and to study every male child that is not walking independently by the age of 18 months.

[New form of subcortical dementia: encephalopathy due to infection with human lymphotropic T virus (HTLV-1). Clinical case]. / Nueva forma de demencia subcortical: encefalopatía por infección del virus linfotrópico T humano (HTLV-I). Caso Clínico.

We report a 45 years old female with a HTLV-I associated myelopathy, followed up for 10 years who, five years ago, developed personality changes and intellectual deterioration, assessed with the Wais-Benton test. She also had alterations in the electroencephalogram and a nuclear magnetic resonance imaging of the brain showed hypodensity in T1 and hyperdensity in T2 subcortical regions. The progression of intellectual impairment was related to an increase in proviral DNA, assessed with polymerase chain reaction.

[Validation of a screening instrument for studying the prevalence of cerebrovascular diseases in the Chilean population]. / Validación de un instrumento de tamizaje para el estudio de la prevalencia de enfermedades cerebrovasculares en la población chilena.

We assessed a screening instrument, adapted from a model suggested by WHO, aimed to perform population studies on the prevalence of cerebrovascular disease in Chile. Sixty-two subjects, 31 with cerebrovascular diseases and 31 without, were asked about symptoms and requested to do simple movements by trained interviewers. The results of the instrument were compared with a neurological examination performed by two specialists. Global sensitivity and specificity of the instrument, using WHO evaluation criteria, were 100 and 38.7% respectively. When three or more symptoms and one positive sign were considered as cutoff points, global specificity increased to 61% and sensitivity decreased to 93%. It is concluded that the present instrument is highly sensitive but lacks specificity.