Distinct Traits of Structural and Regulatory Evolutional Conservation of Human Genes with Specific Focus on Major Cancer Molecular Pathways.

The evolution of protein-coding genes has both structural and regulatory components. The first can be assessed by measuring the ratio of non-synonymous to synonymous nucleotide substitutions. The second component can be measured as the normalized proportion of transposable elements that are used as regulatory elements. For the first time, we characterized in parallel the regulatory and structural evolutionary profiles for 10,890 human genes and 2972 molecular pathways. We observed a ~0.1 correlation between the structural and regulatory metrics at the gene level, which appeared much higher (~0.4) at the pathway level. We deposited the data in the publicly available database RetroSpect. We also analyzed the evolutionary dynamics of six cancer pathways of two major axes: Notch/WNT/Hedgehog and AKT/mTOR/EGFR. The Hedgehog pathway had both components slower, whereas the Akt pathway had clearly accelerated structural evolution. In particular, the major hub nodes Akt and beta-catenin showed both components strongly decreased, whereas two major regulators of Akt TCL1 and CTMP had outstandingly high evolutionary rates. We also noticed structural conservation of serine/threonine kinases and the genes related to guanosine metabolism in cancer signaling: GPCRs, G proteins, and small regulatory GTPases (Src, Rac, Ras); however, this was compensated by the accelerated regulatory evolution.

Analysis of "visible in retrospect" to monitor false-negative findings in radiological reports.

PURPOSE: False-negative findings in radiological reports can lead to serious adverse patient outcomes. We determined the frequency and tendency of false-negative findings in radiological reports by searching for words related to "visible in retrospect". METHODS: In the period of 34 months, we extracted radiological reports containing words related to "visible in retrospect". Of these reports, we extracted false-negative findings that were not described in past reports and were first detected retrospectively. Misinterpretations were excluded. The occurrences of the terms that we identified were analyzed by all examinations, modality, month, and anatomical and lesion classifications were analyzed. RESULTS: Of the 135,251 examinations, 941 reports (0.71%) with 962 findings were detected, with an average of 1.4 findings per business day. By modality, 713 of 81,899 (0.87%) CT examinations, 208 of 36,174 (0.57%) MR, 34 of 9,585 (0.35%) FDG-PET-CT, 2 of 2,258 (0.09%) digital radiography, and 5 of 5,335 (0.09%) other nuclear medicine examinations were found. By anatomical classification, there were 383 (40%) in chest, 353 (37%) in abdomen, 162 (17%) in head, 42 (4.4%) in face and neck, 9 (0.93%) in extremity, and 13 (1.4%) in others. By lesion classification, we identified 665 (69%) for localized lesion, 170 (18%) for vascular lesion, 83 (8.6%) for inflammatory lesion, 14 (1.5%) for traumatic lesion, 12 (1.2%) for organ dysfunction, 11 (1.1%) for degenerative lesion, and 7 (0.7%) for the others. Notable high-frequency specific site diseases by modality were 210 (22%) of localized lesions in lung on CT. CONCLUSION: Our results demonstrated that missed lung localized lesions on CT, which account for about a fifth of false-negative findings, were the most common false-negative finding.

Risks of postoperative respiratory failure in elderly patients after hip surgery: a retrospective study.

BACKGROUND: The purpose of this retrospective study was to investigate the determinants of postoperative respiratory failure in elderly patients with hip fracture. METHODS: The subjects of this study were 663 elderly patients who had hip fracture and had been treated with total hip arthroplasty at our hospital from January 2014 to May 2020. According to the occurrence of postoperative respiratory failure, 626 patients with no respiratory failure were retrospectively included in the control group, and 37 cases combined with respiratory failure were enrolled in the PRF group. The clinical and surgical data of the two groups were collected and analyzed to evaluate the determinants of respiratory failure by logistic regression analysis. RESULTS: There were no significant differences in the demographics and baseline variables including age, gender, fracture type and location between the groups (P > 0.05). All patients received hip surgery including total hip arthroplasty (THA), hemiarthroplasty (HA) and internal fixation with PFNA (proximal femoral nail anti-rotation). There were no significant differences in operative time and intraoperative blood loss between the groups (P > 0.05). However, close associations were found between pulmonary hypertension (univariate analysis: OR = 3.792, 95% CI = 1.421-10.203; multivariate analysis: OR = 1.132, 95% CI = 1.003-1.251), obstructive pulmonary disease (OR = 1.119, 95% CI = 1.009-1.238; multivariate analysis: OR = 13.298, 95% CI = 4.021-43.298), bronchiectasis and emphysema (OR = 4.949, 95% CI = 1.919-9.873; multivariate analysis: OR = 11.231, 95% CI = 187.87), and history of respiratory failure (OR = 6.098, 95% CI = 2.012-12.198; multivariate analysis: OR = 8.389, 95% CI = 2.391-21.982) with postoperative respiratory failure (P < 0.05). CONCLUSION: Pulmonary hypertension, abnormal lung texture, obstructive pulmonary disease, bronchiectasis, emphysema, history of respiratory failure, and hypoproteinemia may be risk factors for postoperative respiratory failure in elderly patients with hip fracture.

Exploring genetic defects in adults who were clinically diagnosed as severe combined immune deficiency during infancy.

Genetic diagnostic tools including whole-exome sequencing (WES) have advanced our understanding in human diseases and become common practice in diagnosing patients with suspected primary immune deficiencies. Establishing a genetic diagnosis is of paramount importance for tailoring adequate therapeutic regimens, including identifying the need for hematopoietic stem cell transplantation (HSCT) and genetic-based therapies. Here, we genetically studied two adult patients who were clinically diagnosed during infancy with severe combined immune deficiency (SCID). Two unrelated patients, both of consanguineous kindred, underwent WES in adulthood, 2 decades after their initial clinical manifestations. Upon clinical presentation, immunological workup was performed, which led to a diagnosis of SCID. The patients presented during infancy with failure to thrive, generalized erythematous rash, and recurrent gastrointestinal and respiratory tract infections, including episodes of Pneumocystis pneumonia infection and Candida albicans fungemia. Hypogammaglobulinemia and T-cell lymphopenia were detected. Both patients were treated with a 10/10 HLA matched sibling donor unconditioned HSCT. Retrospective genetic workup revealed homozygous bi-allelic mutations in IL7RA in one patient and in RAG2 in the other. Our study exemplifies the impact of retrospectively establishing a genetic diagnosis. Pinpointing the genetic cause raises several issues including optimized surveillance and treatment, understanding disease mechanisms and outcomes, future family planning, and social and psychological considerations.

The clinical relevance of asking young psychiatric patients about childhood ADHD symptoms.

Aim: The aim of this study was to explore the relevance of asking young psychiatric patients about childhood symptoms of attention deficit hyperactivity disorder (ADHD).Method: A total of 180 young adults (18-25 years of age) from a general psychiatric out-patient clinic in Uppsala filled in the Child and Adolescent Psychiatric Screening Inventory-Retrospect (CAPSI-R) as part of the diagnostic procedure. The study population was divided into groups based on number and subtype of reported ADHD symptoms, inattention (IN) or hyperactivity/impulsivity (HI). The clinical characteristics associated with different symptoms of ADHD were explored.Results: The groups with five or more self-reported ADHD childhood symptoms, of either IN or HI, had more psychiatric comorbid conditions, a significantly higher co-occurrence of substance use disorders and personality disorders, and experienced more psychosocial and environmental problems.Conclusion: High level of self-reported ADHD childhood symptoms in young psychiatric patients identified a group more burdened with psychiatric comorbid conditions and more psychosocial problems. This group should be offered a thorough diagnostic assessment of ADHD.

[Set sail again and look forward to new 60 years].

The outstanding work of Chinese Journal of Burns in 2018: the successful planning and display of the " Burn Medicine Over the Past 60 Years" column, the launch of seven guidelines and consensus for burn injury treatment, and the opening of the " Online First" and " Video Center" sections in the journal website. Specifically, the " Burn Medicine Over the Past 60 Years" celebration column invited more than 30 papers with sincerity from academicians, seniors in the burn academic field, and listed departments in Fudan University's academic ranking as representatives to praise 60 years discipline development history and exchange the future construction and development concepts. We hope that the fellows enjoy and ponder over the discussions to explore new academic journeys. Our journal, with firm hearts, will accompany you to work together and accomplish new peaks in burn filed.

[Retrospect and prospect of development of Department of Burn Surgery in Guangdong General Hospital].

Guangdong General Hospital set up burn treatment specialist group in 1960. It was one of the hospitals which set up the department of burns in the early time. In the past 58 years, Department of Burn Surgery in Guangdong General Hospital has treated more than 20 000 burn patients, with overall success rate of 98.58%, standing at the global frontier. In the past 58 years, under the leadership of professors Chen Huade and Lai Wen and through the unremitting efforts of the colleagues, our department has developed from a burn treatment specialist group to the key clinical specialty of Guangdong province, sample unit of hundred level of laminar burn care ward, unit of chairman of the second and third committees of the Burn Branch of Guangdong Medical Association, the base of the National Good Clinical Practice, and has provided high level of burn treatment service for people in South China.

[Review of 60 years' development of Department of Burns and Plastic Surgery in West China Hospital of Sichuan University].

Burn medicine of China started in 1958. Over the past 60 years, through the efforts of numerous burn discipline scholars, China's burn clinical and scientific research have reached the world's advanced level. Department of Burns and Plastics Surgery of West China Hospital of Sichuan University was founded in 1963. Department of Burns of our hospital was established earlier in China. In the past 60 years, professor Yu Baoliang, Ren Linsen, and Cen Ying had been working hard for the development of our department. Department of Burns and Plastic Surgery in West China Hospital of Sichuan University has developed from a pure therapeutic specialty group into one of the burn centers with strong technical force, first-class medical level, advanced instruments and equipment, rich scientific research achievements, and integrated medicine, teaching, and research in southwestern China, which enjoys high prestige at home and abroad.

[Review and prospect of burn medicine of China in 60 years].

Burn medicine of China started in 1958. Great progress has been achieved in discipline construction, scientific research, clinical treatment level, and talent team construction in 60 years. A large number of severely burned patients have been successfully treated, and plans for treatment of burn patients with Chinese characteristics have been established with world-leading treatment level. At the same time, in the continuous improvement of clinical treatment level, extensive experimental researches for the key scientific problems in clinical treatment of burn patients have been conducted, and a large number of innovative research results have been achieved by Chinese burn medicine workers. The theoretical research of burn medicine in China has stepped into advanced ranks of the world. Burn medicine will confront development opportunity and tough challenge in the future. We can take advantage of wound repair of burn discipline to deal with the situation of decreasing incidence of burn and undiminished importance of burn medicine. To establish and improve the chain of burn treatment is an important direction for burn discipline development in the future.

A decade of contributions to understanding and ameliorating attention deficit-hyperactivity disorder.

BACKGROUND: It has been 10 years since Terje Sagvolden founded Behavioral and Brain Functions. BODY: After setting the context, this paper reviews some of the contributions of articles in the journal to the literature on ADHD over that decade. Those articles provide a cross section of some of the most important ongoing themes in ADHD research. CONCLUSION: Terje's faith in the new journal was well founded. It has survived the first threat of new journals, crib death, because of the continuing quality and relevance of the articles it carries. It has a diversified portfolio of similar research in many other fields of related interest.