Zusammenfassung Eine Dysfibrinogenämie kann zu Blutungen oder Thrombosen sowie zu Geburtskomplikationen führen. Letztere beinhalten frühzeitige Schwangerschaftsverluste, Blutungen, vorzeitige Plazentaablösung und Thrombosen. Es gibt nur wenige Fallberichte mit Behandlungsempfehlungen für Schwangerschaften bei betroffenen Frauen. Wir berichten über eine inzwischen 34-jährige Frau, bei der es zwischen 2013 und 2015 zu 4 aufeinanderfolgenden Frühaborten kam. Bei der Vorstellung in unserer Ambulanz berichtete die Patientin von einer Neigung zu Blutergüssen, aber keine weiteren Blutungen und keine thromboembolischen Ereignisse. Laboruntersuchungen ergaben einen verminderten Quick-Wert, eine verlängerte Thrombinzeit, eine stark verlängerte Reptilasezeit und Fibrinogenkonzentrationen von 67 mg/dl (Clauss-Methode) und 387 mg/dl (Immunturbidimetrie). Bei der Patientin wurde eine Dysfibrinogenämie diagnostiziert. Die molekularbiologische Untersuchung ergab die Mutation c.103C>T (p.Arg35Cys) im Exon 2 des FGA-Gens (Synonym Aα 16Arg→Cys-Substitution). Während der 5. und 6. Schwangerschaft wurde die Patientin mit einem niedermolekularen Heparin unter Verwendung der empfohlenen Prophylaxedosis für erhöhtes Thromboserisiko behandelt. Gleichzeitig erhielt die Patientin 3 × wöchentlich Fibrinogenkonzentrat (3 × 2 g pro Woche). Darunter verliefen beide Schwangerschaften ereignislos. Schwangerschaftskomplikationen wurden in vielen Fällen berichtet, wenn der funktionell aktive Fibrinogenspiegel unter 0,6 g/l lag (Clauss-Methode). Nach der erstmaligen Feststellung einer Dysfibrinogenämie bei einer Frau ohne offensichtliche Blutungsneigung und ohne thromboembolische Ereignisse in der Anamnese erscheint aus unserer Sicht die empfehlenswerte Vorgehensweise, Fibrinogen zu substituieren und gleichzeitig niedermolekulare Heparine zu geben, um sowohl Blutungen als auch Thrombosen und Schwangerschaftsverluste zu verhindern.
The SARS-CoV-2 pandemic has affected nations globally leading to illness, death, and economic downturn. Why disease severity, ranging from no symptoms to the requirement for extracorporeal membrane oxygenation, varies between patients is still incompletely understood. Consequently, we aimed at understanding the impact of genetic factors on disease severity in infection with SARS-CoV-2. Here, we provide data on demographics, ABO blood group, human leukocyte antigen (HLA) type, as well as next-generation sequencing data of genes in the natural killer cell receptor family, the renin-angiotensin-aldosterone and kallikrein-kinin systems and others in 159 patients with SARS-CoV-2 infection, stratified into seven categories of disease severity. We provide single-nucleotide polymorphism (SNP) data on the patients and a protein structural analysis as a case study on a SNP in the SIGLEC7 gene, which was significantly associated with the clinical score. Our data represent a resource for correlation analyses involving genetic factors and disease severity and may help predict outcomes in infections with future SARS-CoV-2 variants and aid vaccine adaptation.
Protein B2 from Nodamura virus (NMV B2), a member of the Nodavirus family, acts as a suppressor of RNA interference (RNAi). The N-terminal domain of NMV B2, consisting of residues 1-79, recognizes double-stranded RNA (dsRNA). The 2.5 A crystal structure of the RNA-binding domain of NMV B2 shows a dimeric, helical bundle structure. The structure shows a conserved set of RNA-binding residues compared with flock house virus B2, despite limited sequence identity. The crystal packing places the RNA-binding residues along one face of symmetry-related molecules, suggesting a potential platform for recognition of dsRNA.
The aim of this study was to determine the prevalence of impulse control disorders (ICDs) in morbidly obese individuals. One hundred bariatric surgery candidates were examined using a module of the Structured Clinical Interview for DSM-IV that has been developed for ICDs. Nineteen per cent suffered from at least one current ICD and 27% met the criteria for any lifetime ICD, most frequently skin picking (current, 8%; lifetime, 9%), compulsive buying (current 6%, lifetime 8%), and intermittent explosive disorder (current, 5%; lifetime, 10%). Patients with regular binge eating (N = 25) reported significantly more often a history of at least one ICD compared with those without binge eating. The results indicate a high prevalence of ICDs among morbidly obese prebariatric surgery patients that are related to regular binge eating.
Noncardiac chest pain (NCCP) is a common condition associated with considerable patient distress and substantial healthcare costs. Our aim was to investigate associations between illness perceptions, anxiety sensitivity, somatic amplification, and experience of chest pain, and to assess whether a multifactorial model including these factors can distinguish patients with NCCP from patients with cardiac chest pain (CCP).A total of 240 patients with chest pain answered questionnaires concerning anxiety sensitivity (Anxiety Sensitivity Index-3), somatic amplification (Somatosensory Amplification Scale), illness perceptions (Illness Perception Questionnaire-Brief, health concerns, and heart disease conviction), and pain characteristics (intensity, disability, and frequency) before the evaluation of chest pain causation. They were classified as having NCCP or CCP by cardiac angiography. Partial correlation analyses and binary logistic regression analyses were performed.Seventy percent of patients with chest pain were classified as having NCCP. A range of cognitive-perceptual factors were associated with the experience of chest pain. On multivariate analyses, the only psychological factor found to differentiate NCCP from CCP was elevated somatic amplification (relative risk = 1.06, 95% confidence interval = 1.00-1.13).The current DSM-5 proposal with regard to somatic symptom disorder recommends using psychological factors as diagnostic criteria for medically unexplained symptoms while placing less emphasis on the criterion of lack of somatic causation. In this study, an association between pain characteristics and cognitive-perceptual factors was found both for patients with NCCP and for patients with CCP. We found no evidence for a specific profile of psychological characteristics distinguishing patients with NCCP from patients with CCP, except for somatic amplification.
