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Germline CHEK2 pathogenic variants confer an increased risk of female breast cancer (FBC). Here we describe a recurrent germline intronic variant c.1009-118_1009-87delinsC, which showed a splice acceptor shift in RNA analysis, introducing a premature stop codon (p.Tyr337PhefsTer37). The variant was found in 21/10,204 (0.21%) Czech FBC patients compared to 1/3250 (0.03%) controls (p = 0.04) and in 4/3639 (0.11%) FBC patients from an independent German dataset. In addition, we found this variant in 5/2966 (0.17%) Czech (but none of the 443 German) ovarian cancer patients, three of whom developed early-onset tumors. Based on these observations, we classified this variant as likely pathogenic., (Copyright © 2024 The Authors. Published by Elsevier Ltd.. All rights reserved.)

Background: Prompt hemorrhage control and adequate fluid resuscitation are the key components of early trauma care. However, the optimal resuscitation strategy remains controversial. In this context the small volume resuscitation (SVR) concept with hypertonic-hyperoncotic solutions is a new strategy., Patients and Methods: This was a retrospective study in the Helicopter Emergency Medical Service over a 5-year period. Included were all major trauma victims if they were candidates for SVR (initially 4 ml HyperHaes/kg body weight, followed by conventional fluid resuscitation with crystalloids and colloids). Demographic data, type and cause of injury and injury severity score (ISS) were recorded and the amount of fluid volume and the hemodynamic profile were analyzed. Negative side-effects as well as sodium chloride serum levels on hospital admission were recorded., Results: A total of 342 trauma victims (male 70.2%, mean age 39.0 ± 18.8 years, ISS 31.6 ± 16.9, ISS>16, 81.6%) underwent prehospital SVR. A blunt trauma mechanism was predominant (96.8%) and the leading cause of injury was motor vehicle accidents (61.5%) and motorcycle accidents (22.3%). Multiple trauma and polytrauma were noted in 87.4% of the cases. Predominant was traumatic brain injury (73.1%) as well as chest injury (73.1%) followed by limb injury (69.9%) and abdominal/pelvic trauma (45.0%). Within the whole study group in addition to 250 ml HyperHaes, mean volumes of 1214 ± 679 ml lactated Ringers and 1288 ± 954 ml hydroxethylstarch were infused during the prehospital treatment phase. There were no statistically significant differences in the amount of crystalloids and colloids infused regarding the subgroups multisystem trauma (ISS>16), severe traumatic brain injury (GCS<9) and entrapment trauma compared to the total study group. In patients with an initial systolic blood pressure (SBP) >80 mmHg significantly less colloids (1035 ± 659 ml vs. 1288 ± 954 ml, p<0.006) were infused, whereas in patients with an initial SBP ≤ 80 mmHg significantly more colloids were infused (1609 ± 1159 ml vs. 1288 ± 954 ml, p<0.002). There was a statistically significant increase in systolic as well as diastolic blood pressure at all times of blood pressure measurement during prehospital treatment after bolus infusion of HyperHaes within the whole study group. The same applies to the subgroups multisystem trauma, severe traumatic brain injury and entrapment trauma. Minor negative side-effects were observed in 4 cases (1.2%). The mean serum sodium chloride profile on hospital admission was 146.9 ± 5.0 mmol/l, the base excess (BE) was -5.7 ± 5.3 mmol/l) and the pH was 7.3 ± 0.1., Conclusion: The concept of small volume resuscitation provides early and effective hemodynamic control. Clinical side-effects associated with bolus infusion of hypertonic-hyperoncotic solutions are rare.

Background: Recording of adequate mission data is of utmost importance in prehospital emergency medicine. For this, a nationwide uniform core dataset for prehospital data reporting, the so-called MIND 2, was introduced. With this procedure adequate information about structure and outcome quality, but only little information about process quality, can be obtained. Regarding the quality of data recording, primarily computer-based techniques are superior to other techniques. Against this background, the aim of this study was to develop a documentation system, which sets new standards regarding documentation dataset and documentation quality., Results: A primarily computer-based documentation system based on the "digital paper" technology was achieved. This technology allows conventional data entry via a (digital) pen and documentation on conventional paper. As the core-dataset MIND 2 was realized - furthermore, the measurements performed during prehospital management as well as data on vital signs (blood pressure, heart frequency, S(a)O(2), p(et)CO(2) etc.) were included into routine data recording. Integration of this documentation system into an already existing medical quality management system was achieved via a defined interface. Testing of this new system over a 3-month period at the helicopter emergency medical service (HEMS) "Christoph 22" showed a high degree of functionality and stability of the system. Serious problems, especially a total break-down of the whole system, were not observed during the study period., Conclusions: The new data recording concept, which is based on the "digital paper" technology, has proven to be completely satisfactory with respect to functionality and documentation quality during the test period.