Clinical phenotype associated with TANGO2 gene mutation Hoebeke, C.; Cano, A.; De Lonlay, P. ...
Archives de pédiatrie : organe officiel de la Société française de pédiatrie,
January 2021, 2021-Jan, 2021-01-00, 20210101, Letnik:
28, Številka:
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The clinical picture associated with a Transport and Golgi Organization 2 (TANGO2) gene bi-allelic mutation is represented by encephalopathy and rhabdomyolysis marked by cardiac rhythm disorders and ...neurological regression. The presentation of encephalopathy is diverse and can range from isolated language delay and cognitive impairment in a child to multiple disabilities and spastic quadriparesis. Hypothyroidism has also been frequently reported. This article presents the clinical phenotype of seven children with a TANGO2 bi-allelic mutation. The mutation was found by sequencing a panel of genes associated with rhabdomyolysis. While the clinical picture represents generalized cases, there is phenotypic variability in, for example, the degree of disability for each patient. A TANGO2 gene mutation, nevertheless, represents a serious illness with a limited life expectancy due to an unpredictable risk of cardiac rhythm disorder and death, particularly during rhabdomyolysis. Although the natural history of the disease presents an evolution of rhabdomyolysis triggered by infections or effort, an early diagnosis is difficult due in part to the fact that there is a lack of specific biochemical marker or identifying symptoms in the early presentation of the disease. Clinicians must therefore consider the TANGO2 gene when confronted with rhabdomyolysis in a patient suffering from an early developmental disorder. In the meantime, management of the disease remains purely symptomatic.
Alcohol exposure is one of the major risk factors for global burden of disease, but atrial fibrillation (AF) had not yet been included in these estimates. The purpose of this contribution was to ...examine the dose–response relationship between alcohol consumption and AF and to explore potential causal pathways.
Systematic literature review and meta-analyses.
Overall, a consistent dose–response relationship between the amount of alcohol consumed daily and the probability of the onset of AF was found. Women consuming 24, 60 and 120 g of alcohol daily had relative risks of 1.07 95%confidence interval (CI): 1.04–1.10, 1.42 (95% CI: 1.23–1.64) and 2.02 (95% CI: 1.60–2.97), respectively, relative to nondrinkers. Among men, the corresponding relative risks were 1.08 (95% CI: 1.04–1.11), 1.44 (95% CI: 1.23–1.69) and 2.09(95% CI: 1.52–2.86). Based on the categorical analyses, we could not exclude the existence of a threshold (three drinks a day for men and two drinks a day for women). Several pathogenic mechanisms for the development of AF in alcohol users were identified.
Epidemiological criteria for causality were met to conclude a causal impact of alcohol consumption on the onset of AF with a monotonic dose–response relationship. However, the impact of light drinking is not clear.
Die Behandlung von Patienten mit Herzrhythmusstörungen ist von zunehmender Bedeutung. Neben der symptomatischen Therapie kann heute auch eine Senkung der Sterblichkeit durch die Behandlung von ...Herzrhythmusstörungen erzielt werden. Die Vorbereitung, Durchführung und Nachbereitung elektrophysiologischer Eingriffe und Implantation aktiver Herzrhythmusimplantate sowie die Nachsorge der Patienten erfolgt im Team bestehend aus Assistenz‑, Pflegepersonal und Ärzteschaft. Das vorliegende Weiterbildungscurriculum „Fachassistenz Spezielle Rhythmologie“ soll die Qualität in der Patientenversorgung sichern und optimieren und dem medizinischen nichtärztlichen Personal ein strukturiertes Weiterbildungsprogramm nach den Maßstäben des kontinuierlichen Lernens anbieten. Es soll eine objektivierbare Qualifizierungsmöglichkeit bieten, welche Aufstieg und Karriere im Bereich der Assistenz- und Pflegeberufe unterstützt. Dabei soll Transparenz und Bewusstsein für die notwendigen Kompetenzen des Assistenz- und Pflegepersonals im Gebiet „Spezielle Rhythmologie“ geschaffen und das Berufsfeld bekannter und attraktiver gemacht werden. Neben der fachlichen Qualifikation werden auch persönliche, kommunikative, methodische sowie soziale Kompetenzen vermittelt. Das Weiterbildungscurriculum ist die inhaltliche Grundlage und der Leitfaden für Anbieter von Weiterbildungskursen und beschreibt die Voraussetzungen, die erfüllt werden müssen, um das Zertifikat „Fachassistenz Spezielle Rhythmologie“ der Deutschen Gesellschaft für Kardiologie zu erlangen. Das Curriculum soll neben der Verbesserung der Qualitätskriterien mittelfristig auch zum Ziel haben, eine entsprechend der Qualifizierung höhere Eingruppierung des Assistenz- und Pflegepersonals zu ermöglichen.
Abstract Anti-Ro/SSA antibodies, which were described for the first time in systemic lupus erythematosus (SLE) and Sjögren's syndrome (SS), are the most prevalent extractable nuclear antigen (ENA) ...specificity identified in laboratories. Two types of anti-Ro/SSA antibodies have been described, anti-SSA-52 kDa (aSSA52) and anti-SSA-60 kDa (aSSA60), each specific to different antigens. Anti-Ro/SSA52 autoantibodies are more frequent than other autoantibodies possibly because of the antigen's accessible and ubiquitous nature. The sites involved and the symptoms associated with these autoantibodies depend on the antigen's structural variability. Isolated congenital complete atrioventricular block (CAVB) shows a close association with maternal anti-Ro/SSA and anti-La/SSB antibodies; the highest relative risks of CAVB are seen in offspring of mothers with antibodies against 52-kDa Ro and 48-kDa La proteins. Anti-Ro/SSA52 antibodies have little impact on adult rheumatic autoimmune diseases or adult cardiac arrhythmias, but the course of autoimmune liver diseases is greatly worsened by their presence, and solid tumours tend to relapse. Their diagnostic role in rheumatic diseases is controversial, although a significant association between isolated anti-Ro/SSA52-kDa positivity and myositis and to a lesser extent with systemic sclerosis (SSc) has been described. However, the majority of the specific diagnosis is mostly based on the simultaneous presence of other autoantibodies that seems diagnostically more relevant.
Heart rhythm disorders (HRD) are often present in patients visiting their family physician (FP). Dealing with their problems is not always simple, efficient and cost effective. The aim of this paper ...is to review the existing literature about the use and experience of telecardiology in patients experiencing HRD.
We conducted a review of literature in PubMed biographical databases (MeSH thesaurus), Web of Science and Cochrane, between 1995 and 2019. We included original articles in English that describe the use of telecardiology at primary and secondary healthcare levels. Exclusion criteria are those publications that discuss heart failure or observation of the activity of pacemakers or defibrillators and the age of patients under 18 years. A total of 19 papers met the inclusion criteria, thirteen of them were original scientific articles and we included them in the analysis.
Use of telemedicine can shorten the time from diagnosis to the necessary treatment (2/13), telemedicine can reduce mortality in patients with acute myocardial infarction (4/13), it can shorten the time to diagnose atrial fibrillations (4/13), it can help determine the diagnosis for patients complaining about heart rhythm disorders which were not detected on the standard ECG recording (2/13) and can also help identify cardiac causes for syncope or collapse (2/13). All studies have confirmed that the use of telecardiology significantly reduces the number of unnecessary referrals to a cardiologist or hospitalization, and shortens the time needed to treat patients with life-threatening conditions.
The use of telecardiological techniques increases the quality and safety of work in managing patients with cardiovascular disease in FP practice. Usage of telecardiologic devices can also save money and bridge the gap between the primary and secondary healthcare levels.
Synkope – Algorithmen in der Notfallmedizin Sayk, F.; Berndt, M. J.
Medizinische Klinik, Intensivmedizin und Notfallmedizin,
02/2013, Letnik:
108, Številka:
1
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Zusammenfassung
Die Synkope ist ein häufiges Symptom in der Notaufnahme. Meist hat sie eine gutartige Ursache und bedarf keines langwierigen stationären Aufenthaltes. Ein risikoadaptiertes und ...strukturiertes Vorgehen hilft, für jeden Patienten eine optimale Strategie zu finden. Lebensgefährliche Ursachen einer Synkope sind stets zu reflektieren und müssen unverzüglich ausgeschlossen werden. Patienten mit hohem Risiko für eine schwerwiegende Gesundheitsstörung, z. B. einer strukturellen Herzerkrankung, als mögliche Ursache der Synkope müssen identifiziert und der notwendigen weiteren Diagnostik zugeführt werden. Patienten ohne erhöhtes Risiko können ambulant weiter betreut werden. Die Übersicht zeigt einen leitlinienorientierten Algorithmus für die Abklärung in der Notaufnahme.
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