The ACMG SF v3.0 gene list increases returnable variant detection by 22% when compared with v2.0 in the ClinSeq cohort

PurposeThe American College of Medical Genetics and Genomics (ACMG) recommends the return of pathogenic and likely pathogenic (P/LP) secondary findings from exome and genome sequencing. The latest version (ACMG secondary finding [SF] v3.0) includes 14 additional genes. We interrogated the ClinSeq cohort for variants in these genes to determine the additional yield in unselected individuals.MethodsExome data from 1473 individuals (60% White, 34% African American or Black, 6% other) were analyzed. We restricted our analyses to coding variants; +1,+2,–1, and –2 splice site variants; and the pathogenic GAA variant, NM_000152.5:c.-32-13T>G. Variants were assessed with slightly modified ACMG/Association of Molecular Pathology guidelines.ResultsA total of 25 P/LP variants were identified. In total, 7 individuals had P/LP variants in genes recommended for return of heterozygous variants, namely HNF1A (1), PALB2 (3), TMEM127 (1), and TTN (2). In total, 4 individuals had a homozygous variant in a gene recommended for biallelic variant return, namely HFE, NM_000410.3(HFE):c.845G>A p.Cys282Tyr. A total of 17 P/LP variants were identified in the heterozygous state in genes recommended only for biallelic variant reporting and were not returned. The frequency of returnable P/LP variants did not significantly differ by race.ConclusionUsing the ACMG SF v3.0, the returnable P/LP variant frequency increased in the ClinSeq cohort by 22%, from 3.4% (n = 50, ACMG SF v2.0) to 4.1% (n = 61, ACMG SF v3.0).     

战创伤救护模式在大批量地震伤员分诊救治中的应用

目的探讨大批量地震伤员集中分诊救治的模式。方法将战创伤救护模式运用于大批量地震伤员的分诊救治实践。结果依托完善的应急救援系统，参照战创伤救治模式组织实施成批伤员救治，保证了指挥协调通畅、分类预检及时、重伤救治有序、后送保障有力，充分发挥了军队医院应急机动、快速反应的优势。结论建立健全完善有效的平战时期战创伤救护模式，对应对突发灾难性事件大批量伤员的救治具有重要的现实意义。     

Decreased sialic acid and altered binding to lectins of purified alpha 2-macroglobulin from patients with cystic fibrosis.

Purified preparations of plasma alpha 2-macroglobulin from patients with cystic fibrosis are shown to have normal amounts of total hexose but as much as 40% decrease in their sialic acid content. The binding of these preparations to concanavalin A and wheat-germ agglutinin was markedly reduced as compared to normal values in controls. Intermediate values were found in obligate heterozygotes. These results suggest a possible alteration in the carbohydrate moiety of alpha 2-macroglobulin in cystic fibrosis, presumably due to a defective posttranslational process.     

Short-Term Outcomes and Influencing Factors After Ankle Fracture Surgery

The present study investigated the factors influencing the early clinical outcomes after ankle fracture surgery. We included 88 patients, who had undergone implant removal surgery at 1 year after ankle fracture surgery, with ankle computed tomographic (CT) scans obtained before ankle fracture surgery and at implant removal available. We collected demographic information, including age, sex, the presence of diabetes mellitus, level of trauma energy, and fracture classification from the medical records. We also recorded the fracture height using the radiographs and CT images. The medial joint space and articular incongruity were assessed on the follow-up radiographs and CT scans. Bone attenuation was measured by placing a circular region of interest around the ankle joint on the preoperative CT image. The postimplant removal outcomes were assessed using 2 functional questionnaires, the American Orthopaedic Foot and Ankle Society (AOFAS) ankle-hindfoot scale and Foot and Ankle Outcome Score (FAOS). Significant factors related to the AOFAS ankle-hindfoot scale scores and FAOS were identified through univariate analysis using age, sex, radiographic measurements, and CT findings as explanatory variables, followed by multiple regression analysis. On multiple regression analysis, the total FAOS was independently related to the AO classification (p?=?.003) and Lauge-Hansen classification (p?=?.003). The total AOFAS ankle-hindfoot scale score was related to articular incongruity (p?=?.044). The early clinical outcomes after ankle fracture surgery were affected by involvement of the ankle joint fracture rather than the lateral malleolus fracture height. Female sex and the presence of postoperative articular incongruity correlated with inferior early clinical outcomes.     

Efficacy of Hyperbaric Oxygen Therapy in Diabetic Foot Ulcers Based on Wagner Classification

Diabetic foot ulcer is a common chronic complication of diabetes mellitus. In addition to conventional primary therapy, there are adjuvant therapy methods such as hyperbaric oxygen therapy for the healing of diabetic foot ulcer wounds. The present study aimed to determine the efficacy of hyperbaric oxygen therapy in diabetic foot ulcers based on Wagner classification. It was performed retrospectively from prospectively collected data. One hundred thirty patients with diabetic foot ulcers were assessed in 2 groups: 1 group received hyperbaric oxygen therapy; the other group did not. Patients were examined according to age, sex, ulcer grade based on Wagner classification; ulcer healing status; whether hyperbaric oxygen therapy was received; duration of diabetes in years; HbA1C, sedimentation, C-reactive protein levels; and presence of accompanying diseases, including peripheral arterial disease, chronic obstructive pulmonary disease, hypertension, chronic kidney disease, neuropathy, and retinopathy. The mean follow-up period was 19.5?±?4.45 months (range 12 to 28 months). Seventy-one (54.6%) patients received hyperbaric oxygen therapy, and 59 (45.4%) patients did not. All patients in Wagner grade 2 healed in both groups. In the group that received hyperbaric oxygen therapy for grade 3 and 4 patients, 35 (87.5%) and 11 (84.6%) healed, respectively. In total, 60 (84.5%) patients in the group that received hyperbaric oxygen therapy healed. The subgroup comparison conducted according to Wagner classification revealed no differences between the 2 groups of grades 2 and 5 patients. It also revealed that treatment had higher levels of efficacy in the healing of ulcers in grade 3 and 4 patients.     

Intra- and inter-observer reliability assessment of widely used classifications and the “Ten-segment classification” of tibial plateau fractures

BackgroundTen-segment classification provides a different approach to the evaluation of tibial plateau fractures. The purpose of this study was to assess the intra- and inter-observer reliability of three widely used classification systems (Schatzker, Arbeitsgemeinschaft für Osteosynthesefragen (AO/OTA), and the updated three-column concept (uTCC)) with ten-segment classification in two-dimensional computed tomography (2D-CT) and three-dimensional computed tomography (3D-CT).MethodNinety 2D-CT and 3D-CT scans of patients with tibial plateau fractures were included in this retrospective cohort study. The included data were independently classified by six observers of different years of seniority and were independently observed and classified again after eight weeks. Inter-observer and intra-observer reliability of the four fracture classifications made by the six observers was analyzed using the kappa statistic. Kappa values were interpreted according to the categorical rating by Landis and Koch.ResultsWhen the inter-observer reliability was based on 2D-CT/3D-CT analysis, the mean Kappa values for the Schatzker, AO/OTA, uTCC, and ten-segment classification were 0.64/0.66, 0.56/0.59, 0.53/0.65, and 0.60/0.73, respectively. When intra-observer reliability was based on 2D-CT/3D-CT, the mean Kappa values for the Schatzker, AO/OTA, uTCC, and ten-segment classification were 0.68/0.83, 0.69/0.83, 0.74/0.85, and 0.80/0.91, respectively.ConclusionsThe use of 3D-CT is important for the reliable diagnosis and recognition of tibial plateau fracture features compared to 2D-CT. When using 3D-CT, ten-segment classification showed high intra- and inter-observer agreement.     

Simple and complex renal cysts in adults: Classification system for renal cystic masses

Ultrasound and slice imaging are currently the key modalities for diagnosing simple renal cysts. Benign simple renal cysts are defined by a set of strict criteria. Any cystic lesions that do not meet these criteria should be classified as “atypical” or “complex” and considered as suspicious. For over three decades, the Bosniak classification has been the central tool for diagnosing renal cystic masses larger than 1 cm. The Bosniak classification is based upon the results of a well-established pre- and post-contrast computed tomography (CT) protocol. Lesions that are difficult to classify or that remain indeterminate after CT can benefit from a multimodal diagnostic approach combining CT, non-contrast-enhanced and contrast-enhanced ultrasound, and magnetic resonance imaging.     

Validation of the classification of migraine without aura (IHS A1.1) proposed in ICHD-2

OBJECTIVE: This study attempts to validate the alternative criteria for classification of migraine without aura (International Headache Society [IHS] A1.1) proposed in the appendix of The International Classification of Headache Disorders, 2nd edition. This method uses at least two of the associated symptoms (nausea, vomiting, photophobia, phonophobia, and osmophobia) in category D of the IHS classification. BACKGROUND: In the appendix of The International Classification of Headache Disorders, 2nd edition, an alternative method of classification of migraine without aura is proposed. This method of classification has never been validated. METHODS: A total of 1480 consecutive headache patients in a tertiary care setting were evaluated at first visit. Headache-associated features, such as intensity, lifetime duration, frequency per month, duration, triggers, prodrome, percentage recurrence, and postdrome frequency, were recorded. In addition, medication satisfaction, acute and monthly disability, grading of headache days, sleep normality, mood, and habits were documented. RESULTS: Of the 1480 patients, 901 were initially classified as having migraine IHS 1.1. Using the proposed alternative method (IHS A1.1), 885 (98.2%) of these patients were reclassified as having migraine. The remaining 16 (1.8%) patients not classified had only nausea and none of the other specified associated symptoms. They also exhibited different characteristics from the IHS migraine population as a whole regarding their headache and other features. CONCLUSIONS: This classification of migraine in a headache center population shows that the proposed use of any two of nausea, vomiting, photophobia, phonophobia, and osmophobia in category D of the classification may be a valid alternative method of classification. This study also demonstrates that the standard IHS methodology includes a very small group of patients who appear to be different from other migraine patients.     

Viewpoint: Use of King''s Conceptual System, Nursing Informatics, and Nursing Classification Systems for Global Communication

PURPOSE: To propose a common nursing language for communication among members of the nursing community worldwide. DATA SOURCES: The Taxonomy of Nursing Practice, nursing informatics literature, King's Theory of Goal Attainment applied to the nursing process. DATA SYNTHESIS: Several milestones in nursing in the 20th century indicated the need for a universal language for nursing. The nursing process provides a method for synthesis of nursing data, information, and knowledge and is congruent with Imogene King's Theory of Goal Attainment. CONCLUSIONS: The authors advocate for a common nursing language (nursing classification and terminology systems) that would unify nurses worldwide. Supported by nursing theory and technology, global communication would be enhanced for nurses and the interdisciplinary teams of which they are a part. IMPLICATIONS FOR PRACTICE: Use of Imogene King's Conceptual System and Theory of Goal Attainment and the nursing specialty of Nursing Informatics are examples of nursing theory and technology to frame global communication.