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Copyright of Der Nervenarzt is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Der Nervenarzt is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

CRISPR-Cas12a systems are becoming an attractive genome editing tool for cell engineering due to their broader editing capabilities compared to CRISPR-Cas9 counterparts. As opposed to Cas9, the Cas12a endonucleases are characterized by a lack of trans-activating crRNA (tracrRNA), which reduces the complexity of the editing system and simultaneously makes CRISPR RNA (crRNA) engineering a promising approach toward further improving and modulating editing activity of the CRISPR-Cas12a systems. Here, we design and validate sixteen types of structurally engineered Cas12a crRNAs targeting various immunologically relevant loci in-vitro and in-cellulo. We show that all our structural modifications in the loop region, ranging from engineered breaks (STAR-crRNAs) to large gaps (Gap-crRNAs), as well as nucleotide substitutions, enable gene-cutting in the presence of various Cas12a nucleases. Moreover, we observe similar insertion rates of short HDR templates using the engineered crRNAs compared to the wild-type crRNAs, further demonstrating that the introduced modifications in the loop region led to comparable genome editing efficiencies. In conclusion, we show that Cas12a nucleases can broadly utilize structurally engineered crRNAs with breaks or gaps in the otherwise highly-conserved loop region, which could further facilitate a wide range of genome editing applications. [ABSTRACT FROM AUTHOR]

Copyright of Anaesthesist is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Zeitschrift für Gerontologie und Geriatrie is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Background: Neurodegeneration with brain iron accumulation (NBIA) forms a group of rare hereditary diseases with rapid neurodegenerative progression due to an abnormal accumulation of iron in the basal ganglia. This causes extrapyramidal symptoms as well as dystonia and mental retardation. The most common form of NBIA is pantothenate kinase-associated neurodegeneration (PKAN, formerly Hallervorden-Spatz syndrome). There are multiple anesthesiological challenges with great implications for the clinical routine, particularly regarding the preparation for general anesthesia and the premedication visits. As with other orphan diseases, the available recommendations are mainly based on case reports.Objective and Methods: This article gives a short overview of complications associated with NBIA pertaining to general anesthesia. This includes anesthesia-relevant clinical symptoms and perioperative management. The published literature and case reports (available on PubMed) were reviewed to extract a set of recommendations.Results: So far only a few reports have included the anesthesia management of NBIA patients. Most of them refer to PKAN as the predominant type (50% of cases). Recommendations were found on www.orphananesthesia.eu and consensus guidelines on PKAN in general. In particular, dystonia-related restrictions in the maxillofacial area can complicate airway management and cause difficulties with respect to intubation. Furthermore, local or regional anesthesia as the sole anesthesia technique is not eligible/viable due to the reduced compliance of the patient. Special attention should be paid to a timely premedication visit and evaluation to ensure sufficient time to safely plan and prepare the anesthetic procedure.Conclusion: The handling of NBIA patients requires good preparation, including an interdisciplinary team and customized time management. In principle, both general anesthesia as a balanced method and total intravenous anesthesia (TIVA) seem to be possible/viable options. The main focus is on airway management. Even after brief sedation in the context of diagnostic measures, the patient should be monitored for longer than usual. [ABSTRACT FROM AUTHOR]

Background: The goal of rapid sequence induction (RSI) in cases of emergency situations is to secure the airway as quickly as possible to prevent pulmonary aspiration of gastric contents; however, the technique itself is not standardized. For example, the choice of drugs, application of cricoid pressure and the patient position remain controversial. A survey of emergency medical services (EMS) physicians throughout Germany was carried out to assess the different RSI techniques used and with respect to complying with the national guidelines for emergency airway management anesthesia and local standard operating procedures (SOP).Material and Methods: Between 1 April 2017 and 31 May 2017, EMS medical directors in Germany were contacted and asked to distribute a 28-question online questionnaire to local EMS physicians. Of the questions 26 were multiple choice and 2 with plain text. After 6 weeks an e‑mail reminder was sent. In addition, the survey was distributed via social media to EMS physicians.Results: In total the survey was opened 2314 times and 1074 completed responses were received (completion rate 46%). Most of the participants were male (78%) and anesthesiologists (70%) and only one quarter had a local SOP for RSI. The most frequently used muscle relaxant was succinylcholine (62%) and over half of the participants reported using cricoid pressure (57%). There was a distinction between the specialist disciplines in the selection of drugs. Propofol was used most by anesthesiologists, while the others still used etomidate on a larger scale. Nearly 100% could fall back on supraglottic devices (one third laryngeal mask, two thirds laryngeal tube) but only 32.8% with the recommended esophageal drainage. A video laryngoscope was available to 51% of all EMS physicians surveyed.Conclusion: The results of the survey demonstrate heterogeneity in RSI techniques used by EMS physicians in Germany. Medical equipment and safe care practices, such as labeling of syringes varied considerably between different service areas. The recommendations of the S1 national guidelines on emergency airway management and anesthesia should be adhered to together with the implementation of local SOPs. [ABSTRACT FROM AUTHOR]

Copyright of Notfall & Rettungsmedizin is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Der Nervenarzt is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Der Nervenarzt is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Dysphagia is a common symptom in myasthenia gravis (MG). Clinical examination alone fails to detect and grade myasthenic dysphagia sufficiently. For a more precise examination of swallowing function in myasthenia gravis additional technical tools are necessary. To investigate the diagnostic and therapeutic impact of fiberoptic endoscopic evaluation of swallowing with simultaneous Tensilon application (FEES-Tensilon Test) in myasthenia gravis. FEES-Tensilon Test was performed following a standardized protocol. Four severely affected patients with dysphagia as their leading symptom were examined. Dysphagia was characterized by five salient endoscopic findings: leakage, delayed swallowing reflex, penetration, aspiration and residues. If a normalisation or at least an improvement of swallowing function occurred shortly after Tensilon administration the FEES-Tensilon Test was rated as being positive. In three patients the FEES-Tensilon Test successfully detected MG-related dysphagia. In one patient with dysphagia caused by oculopharyngeal muscular dystrophy the FEES-Tensilon Test was truly negative. Beside an early diagnosis of MG-related dysphagia, the FEES-Tensilon Test was useful in the differentiation between myasthenic and cholinergic crisis and in guiding treatment decisions. In all patients the FEES-Tensilon Test was superior to clinical evaluation of dysphagia. No severe side effect occurred while performing the FEES-Tensilon Test. The FEES-Tensilon Test is a suitable tool in the diagnosis and therapy of myasthenia gravis with pharyngeal muscles weakness. [ABSTRACT FROM AUTHOR]

Erratum zu:Anaesthesist 201810.1007/s00101-018-0466-xIn dem ursprünglich publizierten Artikel wurde im Namen des Autors T.K. Becker das zweite Initial vergessen. Bitte beachten Sie die korrigierte ... [ABSTRACT FROM AUTHOR]

This section presents research which dealt with central sleep apnea (CSA) as a manifestation of X-linked Charcot-Marie-Tooth disease. The findings of the study is important to the phenotypic variations of the disases and mutations in GJB1 gene in particular. Further assessments such as polysomnography and gentic testing are needed in the identification of the relation of CSA with the disease.

Long duration spaceflights to the Moon or Mars are at risk for emergency medical events. Managing a hypoxemic distress and performing an advanced airway procedure such as oro-tracheal intubation may be complicated under weightlessness due to ergonomic constraints. An emergency free-floating intubation would be dangerous because of high failure rates due to stabilization issues that prohibits its implementation in a space environment. Nevertheless, we hypothesized that two configurations could lead to a high first-pass success score for intubation performed by a free-floating operator. In a non-randomized, controlled, cross-over simulation study during a parabolic flight campaign, we evaluated and compared the intubation performance of free-floating trained operators, using either a conventional direct laryngoscope in an ice-pick position or an indirect laryngoscopy with a video-laryngoscope in a classic position at the head of a high-fidelity simulation manikin, in weightlessness and in normogravity. Neither of the two tested conditions reached the minimal terrestrial ILCOR recommendations (95% first-pass success) and therefore could not be recommended for general implementation under weightlessness conditions. Free-floating video laryngoscopy at the head of the manikin had a significant better success score than conventional direct laryngoscopy in an ice-pick position. Our results, combined with the preexisting literature, emphasis the difficulties of performing oro-tracheal intubation, even for experts using modern airway devices, under postural instability in weightlessness. ClinicalTrials registration number NCT05303948., (© 2023. Springer Nature Limited.)

Background: Regional Associations of Statutory Health Insurance Physicians in Germany are obliged to provide around-the-clock non-emergency care. This includes out-of-hours care, weekends, and public holidays. Due to a growing shortage of specialised doctors in private practice - especially in more rural area - this well-established system might be about to collapse. A possible solution could lie in training medical personnel to work under telemedical supervision., Methods: The Association of Statutory Health Insurance Physicians of Lower Saxony, Klinikum Oldenburg AöR, and Johanniter-Unfall-Hilfe (JUH) Germany developed a pilot scheme in which specially-trained paramedics provided out-of-hours non-emergency medical services. Supervision was ensured by telemedical backup. Descriptive statistics were used to analyse the data., Results: The majority of cases occurred in urban areas in the afternoon or at night. Most problems could be resolved by providing patient counselling. The majority of patients presented with unspecific symptoms. Telemedical support by a medical doctor was only required in 2.1 % of cases. In Germany, treatment by paramedics is widely accepted. In 63.5 % of cases patients could remain in an ambulatory setting., Conclusions: Our study showed that non-emergency out-of-hours service can be competently delivered by paramedics under telemedical supervision. However, the expansion of high-speed wireless internet access is crucial for ensuring nationwide telemedical support. More research is needed to find out whether the described pilot scheme can be rolled out or even expanded in more rural areas of Germany., (© Deutscher Ärzteverlag 2022.)

Crescent-shaped red blood cells, the hallmark of sickle-cell disease, present a striking departure from the biconcave disc shape normally found in mammals. Characterized by increased mechanical fragility, sickled cells promote haemolytic anaemia and vaso-occlusions and contribute directly to disease in humans. Remarkably, a similar sickle-shaped morphology has been observed in erythrocytes from several deer species, without obvious pathological consequences. The genetic basis of erythrocyte sickling in deer, however, remains unknown. Here, we determine the sequences of human β-globin orthologues in 15 deer species and use protein structural modelling to identify a sickling mechanism distinct from the human disease, coordinated by a derived valine (E22V) that is unique to sickling deer. Evidence for long-term maintenance of a trans-species sickling/non-sickling polymorphism suggests that sickling in deer is adaptive. Our results have implications for understanding the ecological regimes and molecular architectures that have promoted convergent evolution of sickling erythrocytes across vertebrates.