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简介：AbstractPurpose:Spinal injuries resulting in neurological damage cause significant morbidity. Swift neurosurgical intervention can mitigate negative outcomes. However, variable mechanisms of injury may be associated with inappropriate transport (IAT), which may delay necessary surgical interventions. Patients with near shore spinal injuries (NSSI) presented with unique mechanisms, so we investigated factors associated with IAT in patients with NSSI.Methods:We performed a multicenter retrospective study of all adult patients transported from a beach resort to 3 hospitals for suspected NSSI between 2006 - 2017. We excluded patients transferred to other facilities, and those not injured in the water. Primary outcome was IAT, defined as patients with NSSI requiring transfer to another trauma center. To avoid heterogeneity in our analysis, we further excluded patients without NSSI who were inappropriately transported to a level I trauma center. We used multivariable logistic regression to assess association of independent variables (such as demographic, environmental, and clinical factors) with outcome.Results:We analyzed 278 patients with suspected NSSI, and found 14 (5.0%) had IAT. Compared to appropriately transported patients, diving was associated with higher percentages of IAT (28.6% vs. 3.9%, p = 0.014) and more were transported by air (50.0% vs. 20.6%, p = 0.01). In multivariable regression, patients’ oxygenation saturation (odds ratio [OR] = 0.8, 95% confidence intervals [CI]: 077-0.98) and diving (OR= 7.5, 95% CI: 1.2-46) were significantly associated with IAT.Conclusion:Rate of IAT for patients with NSSI was low. However, first responders and emergency medicine providers should be aware that diving is associated with a higher likelihood of IAT.

简介：AbstractThis paper provides ethical guidance for the professionally responsible clinical investigation of maternal-fetal investigation for fetal or neonatal benefit and its transition into clinical practice. We present an ethical framework based on the ethical principles of beneficence, respect for autonomy, and justice, the professional virtue of integrity, and the ethical concept of the fetus as a patient. We identify the implications of this ethical framework for the qualifications that centers for maternal-fetal intervention should satisfy. These centers have the ethical obligation to provide prospective review and oversight of both innovation (an experiment undertaken to benefit an individual patient) and research (an experiment undertaken to create generalizable knowledge). We describe ethically justified criteria for innovation and early-phase research, for randomized clinical trials, and for the responsible transition into clinical practice. We also identify the elements of the informed consent process, including measures to prevent therapeutic misconception by pregnant patients during the informed consent process. The scientific, clinical, and ethical requirements of maternal-fetal investigation are demanding. However, the commitment to safety and quality requires that they be met. Fulfilling this commitment will result in well-documented professionally responsible investigation of maternal-fetal intervention for fetal and neonatal benefit.

简介：AbstractHepatic phosphorylase kinase (PhK) plays an important role in glycogen metabolism by activating phosphorylase. Patients with PhK deficiency may get glycogen storage disease (GSD) type-IXa, an X-linked liver glycogenosis disease. To inform genetic counseling in a family with two affected GSD brothers, we performed a genetic analysis. The GSD in the older brother was confirmed by histological examination of a liver biopsy, which showed glycogen accumulation in liver cells. A liver biopsy was not available from the younger brother. The two patients and their parents were analyzed by whole exome sequencing. A pathogenic mutation in a gene encoding a regulatory subunit of PhK, PHKA2 located on chromosome Xp22, was identified as c.G3373A (p.E1125K) and confirmed by Sanger sequencing. The proband’s maternal grandparents and the brothers and sisters of the proband’s maternal grandfather were physically examined and genetically tested by Sanger sequencing. Pedigree analysis showed that the mother was a carrier and that the two patients inherited the mutation from their undiagnosed maternal grandfather. Moreover, among the maternal grandfather and four granduncles, three of them possessed the same mutation and four suffered from fatty liver. This is the first report of this mutation causing X-linked liver glycogenosis in a Chinese family and shows that GSD IXa is a mild form of glycogenosis in terms of clinical symptoms, indicating that GSD may be undiagnosed or underestimated. Nevertheless, to provide appropriate intervention and genetic counseling, early identification of the genetic cause is imperative. This study was approved by the Ethics Committee of First Affiliated Hospital, Hunan University of Chinese Medicine (approval No. HN-LL-ZFKY-2018-001-01) on January 12, 2018.

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简介：AbstractBackground:In neurosurgery, the necessity of having a drainage tube is controversial. Subgaleal fluid collection (SFC) often occurs, especially in a craniotomy near the "parietal site" . This study aimed to reassess the benefit of using a prophylactic epidural drainage (ED) and non-watertight dura suture in a craniotomy near the parietal site.Methods:A retrospective review was conducted on 63 consecutive patients who underwent a craniotomy near the parietal site. The patients were divided into two groups according to different period. The deal group received ED and a non-watertight dura suture (drain group, DG), the control group that did not (non-drain group, NDG). Complications and patient recovery were evaluated and analysed.Results:Three patients (11.5%, 26) in DG and 20 patients (54.1%, 37) in NDG presented with SFC (p < 0.05). One patient (3.8%) in DG and three patients (8.1%) in NDG presented with subdural tensile hydrops (STH) (p > 0.05). Six developed an infection in NDG (four intracranial infections, one abscess, one pulmonary infection), while none in DG (p > 0.05) developed infection. Three (11.5%) cases in DG and one (2.7%) case in NDG had muscle strength that improved postoperatively (p > 0.05). Fifteen (57.7%) in DG and 14 (37.8%) in NDG had epileptic seizures less frequently postoperatively (p < 0.05). The average temperature (37.4 °C vs 37.6 °C, p > 0.05), the maximum temperature (37.9 °C vs 38.1 °C, p > 0.05) on 3 PODs, the postoperative hospital stay day (7.5 days vs 8.0 days, p > 0.05), and the postoperative medicine fee (¥29762.0 vs ¥28321.0, p > 0.05) were analysed.Conclusion:In patients who undergo a craniotomy near the parietal site, the prophylactic use of ED and a non-watertight dura suture helps reduce SFC, infection, and control epilepsy.