bluuebunny/crossref_metadata_2025_split huggingface dataset:
Mutation analysis of the TNFAIP3 in A20 haploinsufficiency
Authors: Yan Mei , Li Danlu , Aknai Shakan , Zhu Hongtao , Abudureyim Mayila 
Published: May 2021

Abstract

Introduction:
Haploinsufficiency of A20 (HA20) is a novel genetic disease presented by Zhou et al in 2016. A20 is a protein encoded by TNFAIP3. Loss-of-function mutation in TNFAIP3 will trigger a new autoinflammatory disease: HA20. HA20-affected patients may develop a wide range of clinical manifestations, such as Behcet disease, rheumatoid arthritis, rheumatic fever, juvenile idiopathic arthritis, and systemic lupus erythematosus. HA20 is rarely reported, thus remaining far from thoroughly understood. Sixty-one cases of HA20 have been reported worldwide, among which 29 cases were diagnosed with Behcet disease ultimately. Moreover, 3 cases have been reported in China, which was the first report of HA20 characterized by Behcet disease. A comprehensive understanding of the pathogenic genes of HA20 could help us apply targeted therapy as soon as possible to improve patients’ survival rates.

Patient concerns:
A 2-year-old 3-month-old child was presented to our hospital with recurrent infectious enteritis and stomatitis.

Diagnosis:
Genetic mutations were detected immediately, and a novel pathogenic mutation was found in TNFAIP3. A heterozygous mutation (c.436-437deTC) located at TNFAIP3 was confirmed. The present research indicated that the TNFAIP3 mutation of c.436-437deTC (p.L147Qfs∗7) accounted for familial Behcet-like autoinflammatory syndrome in the child suffering from HA20, while no variation in this locus was found in her parents.

Interventions:
Symptomatic treatments including oral administration of prednisone (12.5 mg/d) and iron supplement were performed, and repeated infection was no longer observed in the child. Pain and activity limitation was found in the knee joints. The treatment regimen was adjusted to oral prednisone (12.5 mg/dose, 2 doses/d) and subcutaneous injection of rhTNFR:Fc (12.5 mg/week).
Outcomes: At the last follow-up, the limbs’ activities were normal, the inflammatory indicators were reduced or within the normal range. The prednisone dose was reduced to 7.5 mg/d, while the dose of rhTNFR:Fc was not changed.

Conclusion:
We have identified a novel pathogenic HA20 mutation. In this article, 1 case was analyzed in-depth in terms of clinical manifestations of the patient and new sources of such a novel disease, which might improve our understanding of this disease.
Eccrine poroma presented as spindle-shaped plaque
Authors: Wang Yuqian , Liu Meng , Zheng Yan , Feng Yiguo 
Published: May 2021

Abstract

Rationale:
Eccrine poroma, a benign cutaneous neoplasm originating from the intraepidermal portion of the eccrine sweat duct, is relatively common in clinical practice. Nevertheless, the 1 presenting as spindle-shaped plaque is extremely rare and easily misdiagnosed as seborrheic keratosis or other dermatoses. Thus, the current study demonstrates a case of eccrine poroma with unique clinical manifestation.

Patients concerns:
A 47-year-old man presented with a spindle-shaped plaque on his left sole for 6 years.

Diagnoses:
Based on the clinical and histopathological manifestations, diagnosis of eccrine poroma was established.

Interventions:
Surgical excision under local anesthesia was performed.

Outcomes:
No recurrence or malignant transformation occurred within 6-month follow-up.

Lessons:
Eccrine poroma typically presents as a dome-shaped nodule on palm or sole. But this case reminded us the lesion presenting as a spindle-shaped plaque on sole can not rule out the possibility of eccrine poroma.
Correlation between serum levels of C-reactive protein and neonatal pneumonia
Authors: Li Xiaowen , Chen Zhong 
Published: May 2021

Abstract

Background:
Few studies have reported the correlation between serum levels of C-reactive protein (CRP) and neonatal pneumonia. The purpose of the present meta-analysis was to clarify whether an increased serum level of CRP accelerates the development of neonatal pneumonia.

Methods:
This protocol is conducted according to the preferred reporting items for systematic reviews and meta-analysis protocol (PRISMA-P) statement guidelines. Related articles were identified by searching PubMed, Embase, Cochrane Library, Web of Science, Science Direct, and CNKI databases. Two investigators extracted information according to the selection criteria and used a set of predefined criteria based on the Newcastle–Ottawa Scale (NOS) criteria to assess the studies. All calculations were carried out with Stata 12.0 (Stata Corp, College Station, TX).

Results:
The results of this systematic review and meta-analysis will be published in a peer-reviewed journal.

Conclusion:
We hypothesized that a higher serum CRP level is closely correlated with the progression of neonatal pneumonia. CRP as a general systemic inflammation biomarker may help clinicians to make difficult therapeutic decisions for neonatal pneumonia.

Open Science Framework registration number:
10.17605/OSF.IO/RGBMX.
Serum electrolytes and renal alterations in HIV-seropositive Mexican subjects
Authors: Garza Tovar Oscar Antonio , Pérez Alberto Alejandro Miranda , Pérez María Elena Gutiérrez , Robledo Ivonne Urraza , Galarza Faviel F. González , Márquez Francisco Carlos López 
Published: May 2021

Abstract
To examine potential risk factors associated with biochemical alterations in renal function in a population diagnosed with HIV/AIDS undergoing antiretroviral treatment.
This is an observational, transversal, and relational design study that included 179 HIV-seropositive subjects. Glucose serum, cholesterol, triglycerides, total proteins, albumin, creatine, urea, blood urea nitrogen (BUN), and electrolytes levels were determined for each individual. Renal function was evaluated through the glomerular filtration rate (GFR), using the CKD-EPI equation. Chronic kidney disease (CKD) was defined as estimated glomerular filtration rate  < 60 mL/min/1.73 m2. Univariate model significant variables, with a 95% confidence interval (CI), were included in a multivariate logistic regression analysis.
CKD prevalence in patients was 7.3%, with comorbidities of 7.8% for type 2 diabetes mellitus, 7.3% for arterial hypertension, and 35.2% for dyslipidemia. Additionally, both hypernatremia and hypophosphatemia were detected in 57% (n = 102) of the patients. Multivariate logistic regression suggested that CD4+ T cell count < 200 (P = .02; OR 0.2; CI 95% 0.08–0.8) was associated to hyponatremia; similarly, detectable viral load was associated to hypokalemia (P = .02; OR 5.1; CI 95% 1.2–21.3), hypocalcemia (P = .01; OR 4.1; CI 95% 1.3–12.3), and hypermagnesemia (OR 3.9; CI 95% 1.1–13.6). Patient age was associated to both hypophosphatemia (P = .01; OR 2.4; CI 95% 1.1–5.0) and hypermagnesemia (P = .01; OR 2.8; IC 95% 1.1–7.0), and high creatinine levels were associated to nucleoside reverse transcriptase inhibitor treatment (P = .001; OR 42.5; CI 95% 2.2–806.9). Lastly, high BUN levels were associated to age (P = .03; OR 3.8; CI 95% 1.0–14.4), while GFR 60 to 89 mL/min/1.73 m2 was associated to dyslipidemia (P = .02; OR 2.2; CI 95% 1.1–4.5).
CD4+ T cell and viral load were the main factors associated with renal biochemical alterations.
Outpatients’ perception of their preoperative information regarding their health literacy skills and their preoperative anxiety level
Authors: Stephanie Chandler-Jeanville , Mathieu Ahouah , Aurore Margat , Monique Monique Rothan-Tondeur 
Published: May 2021

Abstract
Despite the benefits related to ambulatory surgery such as cost reduction due to lack of accommodation and patient satisfaction due to early home return, it may not lead to these expected benefits. Indeed, this kind of practice can increase responsibility for the person being treated and his or her relatives. It is therefore essential to inform them as well as possible to obtain their adherence to the proposed care protocol. Nevertheless, patients’ failures to comply with preoperative instructions or the non-attendance of the patient may result in late cancellation of the scheduled surgery. In order to reduce this kind of dysfunction, the Assistance Publique-Hôpitaux de Paris (APHP) uses a reminder system by Short Message Service (SMS).
This study is a descriptive cross-sectional multicenter study that focuses on outpatients’ lived experiences of their preoperative preparation and information. It aims to collect patients’ perceptions of their ability to follow preoperative instructions received by SMS the day before an operation performed for ambulatory surgery, according to their level of health literacy (HL) and preoperative anxiety. Indeed, poor communication between patients and doctors can contribute to preoperative anxiety, while low health literacy (LHL) can lead to poor understanding of preoperative preparation instructions. Therefore, it seems important to take these 2 criteria into account in this study. This research is designed to interview outpatients undergoing ambulatory surgery in the establishments of APHP. A self-questionnaire will be used for this purpose. The choice of this institution is justified by its decision to use in all care units the reminder of preoperative instructions by SMS.
The main outcome is the perception of outpatients with LHL skills regarding preoperative information provided by doctors.
French ethics review committee (Comité d’Ethique de la Recherche) of the University of Paris has approved the study protocol (IRB 00012020-14). Results from this study will be disseminated through oral communications and a scientific article in an international peer-reviewed journal.
This protocol is registered on researchregistry.com (researchregistry5834). This version number is 1.1 Protocol dated July 22, 2020.
Efficacy and feasibility of deep brain stimulation for patients with depression
Authors: Zhang Hongli , Wang Na , Yu Liping , Zhao Min 
Published: May 2021

Abstract

Background:
Previous meta-analyses have examined the clinical efficacy and acceptability of deep brain stimulation (DBS) compared with sham therapy or paired active therapy. However, the absence of head-to-head clinical trials with some treatment comparisons creates uncertainty for decision makers. Thus, to provide new evidence-based medical evidence for clinical treatment, we undertook a meta-analysis to assess the efficacy and safety of DBS in patients with depression based on high-quality randomized controlled studies.

Methods:
The protocol was written following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses Protocols (PRISMA-P) statement guidelines. PubMed/Medline and EMBASE will be searched before May 2021 for all studies, using various combinations of the following free text and key terms: deep brain stimulation; depression; random. No language restrictions will be applied. The method of data extraction will follow the approach outlined by the Cochrane Handbook for Systematic Reviews of Interventions. Review Manager software 5.3 is used for the meta-analysis. The quality of randomized trials will be assessed by Cochrane risk of bias tool for randomized controlled trials.

Results:
The results of our review will be reported strictly following the PRISMA criteria and the review will add to the existing literature by showing compelling evidence and improved guidance in clinic settings.

OSF registration number:
10.17605/OSF.IO/Q5B3S.
Plasma D-dimer and FDP are promising biomarkers to predict perioperative fibrinolysis and bleeding following primary total joint arthroplasty
Authors: Wang Yan , Xie Jinwei , Pei Fuxing 
Published: May 2021

Abstract
Perioperative bleeding is associated with postoperative hyperfibrinolysis caused by surgical trauma in the setting of total hip and knee arthroplasty (THA/ TKA). The study aimed to clarify the dynamics of postoperative fibrinolytic activity and the values of fibrin degeneration products and thromboelastography (TEG) to guide precisive antifibrinolytic therapy.
Forty three patients undergoing primary unilateral THAs and 40 TKAs were included to the prospective observational cohort study. Venous blood sample at different time points (preoperative, intraoperative, postoperative 6 hours, 12 hours, 24 hours, 48 hours) were drawn to test D-dimer, fibrin (-ogen) degradation products (FDP) and TEG.
The TEG parameters associated with coagulation (R, K, α, MA, and CI) and fibrinolysis (estimate percent lysis and Ly30) were all in normal range although had a higher level than preoperative time (P < .05). The postoperative levels of D-dimer and FDP were higher than preoperative level (P < .05). The dynamics of D-dimer and FDP presented a bimodal pattern, which peaked at 6 hours postoperatively, then remained and decreased until 24 hours, but would rebound at 48 hours postoperatively with smaller amplitude. Moreover, FDP6h (P = .028), D-Dimer6h (P = .044), FDP12h (P = .009), D-dimer12h (P = .007), and FDP48h (P = .016) were all correlated with total blood loss on POD3.
FDP and D-dimer were effective and practical markers for prediction of acute postoperative fibrinolytic activity, which peaked at 6 hours after end of surgery and would maintain for at least 24 hours.
Alterations of bone markers in obese patients with type 2 diabetes after bariatric surgery
Authors: Huang Tzu-Wen , Chen Jing-Yi , Wu Yueh-Lin , Kao Chih-Chin , Yeh Shu-Ching , Lin Yen-Chung 
Published: May 2021

Abstract

Background:
The aim of this study is to evaluate the alterations in bone mineral density and other surrogate markers for osteoporosis in obese patients with type 2 diabetes mellitus (T2DM) who received Roux-en-Y gastric bypass (RYGB) versus medical treatment as control.

Methods:
We searched 4 electronic databases and reference lists of relevant studies for eligible research published before December, 2019. After quality assessment, eligible studies were synthesized for relevant outcomes, including lumbar spine bone mineral density (L-spine BMD) change, total hip BMD change, osteocalcin level, C-terminal telopeptide level, and parathyroid hormone level.

Results:
Three randomized clinical trials and 2 observational studies concerning 307 total obese T2DM patients were included. Follow-up ranged from 12 to 60 months. Patients underwent RYGB surgery were associated with both higher L-spine BMD loss (mean difference: −2.90, 95% CI: −2.99∼−2.81, P < .00001) and total hip BMD loss (mean difference: −5.81, 95% CI: −9.22∼−2.40, P = .0008). As to biochemical markers of bone metabolism, we found significantly higher osteocalcin level in medical treatment (control) group compared with RYGB group (mean difference: 11.16, 95% CI: 8.57–13.75, P < .00001). However, higher C-terminal telopeptide level and parathyroid hormone level were noted in medical treatment group (control) compared with RYGB group (mean difference: 0.29, 95% CI: 0.11–0.48, P = .002; mean difference: 1.56, 95% CI: 0.84–2.27, P < .0001).

Conclusions:
RYGB surgery is associated with negative impact on bone metabolism and increase the risk of osteoporosis in obese patients with T2DM. We suggest that clinicians acknowledge the adverse effects of surgery and keep monitoring bone mineral components in post-RYGB populations. Further studies regarding the optimal amount of perioperative and postsurgical supplementation should be evaluated.
An unusual case of familial Mediterranean fever complicated with protracted peritonitis
Authors: Matsumoto Haruki , Fujita Yuya , Asano Tomoyuki , Sato Shuzo , Temmoku Jumpei , Yashiro-Furuya Makiko , Matsuoka Naoki , Watanabe Hiroshi , Suzuki Eiji , Migita Kiyoshi 
Published: May 2021

Abstract

Introduction:
Familial Mediterranean fever (FMF) is a genetic autoinflammatory disease characterized by acute and recurrent attacks of fever and serosal inflammation. These attacks are usually of short duration (24–72 hours) and associated with acute serositis.

Patient concerns:
We describe the case of a 46-year-old male patient with FMF whose dominant clinical features were recurrent peritonitis and fever.

Diagnosis:
During the previous five years, he had intermittent peritoneal attacks with abdominal rigidity that persisted for > 1 week, even with colchicine treatment. Although a MEFV gene analysis revealed no MEFV mutation or polymorphisms, the diagnosis of incomplete FMF was confirmed using the criteria by Livneh et al.

Intervention:
Recurrent, prolonged, and unresolved abdominal pain was refractory to nonsteroidal anti-inflammatory drugs or opioids and occurred even with preventive colchicine treatment. We started the patient on subcutaneous injections of 150-mg canakinumab at 4-week intervals.

Outcomes:
Fever and protracted peritonitis were resolved promptly after the induction of canakinumab treatment. Febrile or peritoneal attacks did not occur during the 13 months of maintenance treatment with canakinumab (150 mg, every 4 weeks).

Conclusion:
We present an unusual case of protracted FMF-mediated peritonitis with excellent response to canakinumab but not to colchicine. Colchicine treatment is usually prescribed in FMF cases and can prevent recurrences of fever and abdominal attacks, including peritoneal inflammation. Recent clinical trials have shown that anti-interleukin-1 treatment is the best therapeutic option for patients with colchicine-resistant FMF. Clinicians should consider FMF in the differential diagnosis of prolonged peritonitis that is resistant to colchicine, even in the subgroup of FMF patients without MEFV mutations.
68Ga-PSMA-I&T-PET/CT interobserver and intraobserver agreement for prostate cancer: a lesion based and subregional comparison study among observers with different levels of experience
Authors: Soyluoglu Selin , Korkmaz Ulku , Ozdemir Busra , Ustun Funda , Durmus-Altun Gulay 
Published: May 2021

Objective

68Ga-PSMA-PET/CT is a relatively new technique, that is rapidly becoming widespread. We aimed to contribute interobserver–intraobserver agreement of 68Ga-PSMA-PET/CT, among low/high-experienced interpreters.

Methods

68Ga-PSMA-PET/CT of 56 patients with prostate cancer were evaluated blindly by four observers. Visual interpretation of malignant disease and SUVmax for lymph node (LN) regions, local tumor, bones and visceral organs were recorded. Cohen’s Kappa and Fleiss’ Kappa analyses were used to measure agreement between low/high/all-experienced observers. Variations were compared for regions, and the effect of prostate-specific antigen or Gleason score on the results was investigated.

Results
Interobserver agreement was almost perfect for all LN regions (LN1 low-experienced κ: 0.84/0.84, high-experienced 0.89/0.96; LN2 low-experienced κ: 0.88/0.79, high-experienced 0.95/0.95; LN3 low-experienced κ: 0.84/0.89, high-experienced 0.87/0.94, first/second readings, respectively) and bone lesions (low-experienced κ: 0.88/0.88, high-experienced 0.92/0.92, first/second readings, respectively). For local tumor, interobserver agreement was substantially-almost perfect among a high-experienced group (κ: 0.74/0.89, first/second readings, respectively), and was moderate-substantial among a low-experienced group (κ: 0.62/0.56, first/second readings, respectively). Intraobserver agreement was almost perfect for three observers for all regions and substantial for the observer with the lowest experience in LN3, local and visceral lesions (κ: 0.74/0.79/0.62, respectively).

Conclusion
Interpretation of prostate-specific membrane antigen (PSMA) for prostate cancer is acceptably consistent among observers, but some details are noteworthy. The evaluation should be done more algorithmically for local tumors, since all observers showed relatively lower agreement. The agreement increased as prostate-specific antigen and Gleason score increased. The observer with PSMA experience <30 readings showed lower reliability, distinct from the others. This indicates that although a reader may be familiar with other PET agents, a more consistent interpretation of 68Ga-PSMA-PET/CT requires training with a small number of identified cases.
Virtual reality-based physical therapy for patients with lower extremity injuries: feasibility and acceptability
Authors: Reilly Clifford A. , Greeley Aimee Burnett , Jevsevar David S. , Gitajn Ida Leah 
Published: May 2021

Abstract

Introduction:
Traditional physical therapy (PT) requires patients to attend weekly in-office supervised physical therapy appointments. However, between 50% and 70% of patients who would benefit do not receive prescribed PT due to barriers to access. Virtual Reality (VR) provides a platform for remote delivery of PT to address these access barriers.

Methods:
We developed a VR-PT program consisting of training, games, and a progress dashboard for 3 common lower extremity physical therapy exercises. We enrolled orthopaedic trauma patients with lower extremity injuries. Patients completed a VR-PT session, consisting of training and one of the exercise-based games. Pre- and post-VR-PT questionnaires were completed.

Results:
We enrolled 15 patients with an average age of 51 years. Fourteen patients said they would enroll in a randomized trial in which they had a 50% chance of receiving VR-PT vs receiving standard of care. When asked to rate their experience using the VR-PT module on a scale from 0-10—with 0 being anchored as “I hated it” and 10 being anchored as “I loved it”—the average rating was 7.5. Patients rated the acceptability of VR-PT as a 3.9 out of 5, the feasibility as a 4.0 out of 5, and the usability as a 67.5 out of 100.

Conclusion:
The response to VR-PT in this pilot study was positive overall. A VR-based PT program may add value for both patients and clinicians in terms of objective data collection (to aid in compliance monitoring, progression toward goals and exercise safety), increased engagement and increased access.
COVID-19 orthopaedic trauma volumes: a Canadian experience during lockdown and staged reopening
Authors: Ludwig Taryn E. , Samuel Tina L. , Vergouwen Martina , White Neil J. 
Published: May 2021

Abstract

Objectives:
The aim of this study is to report the impact of public health measures (PHM), including their relaxation, on surgical orthopaedic trauma volumes. We hypothesize an initial reduction in orthopaedic trauma volumes during lockdown followed by a surge as Stages 1 and 2 of reopening progressed in Summer 2020.

Methods:
All unscheduled surgical orthopaedic trauma cases from March through August were retrospectively reviewed in Calgary, Alberta, Canada, from 2008 to 2020. Trauma volumes from 2008 to 2019 were used to model expected 2020 volumes, and multivariable Poisson regression was used to determine the effect of PHM on orthopaedic trauma volumes.

Results:
A total of 22,331 trauma orthopaedic surgeries were included. During lockdown, there was a significant decrease in trauma volume compared with expected (−14.2%, −25.7 to −10.5%, P < .001) and there were significantly fewer ankle fractures (−17.8%, −30.9 to −2.2%, P = .027). During reopening Stage 2, there was a significant increase in trauma volume (+8.9%, +2.2 to +16.1%, P = .009). There was no change in the incidence of polytrauma, hip fracture, or wrist fracture during the pandemic.

Conclusions:
This study provides the first report of a surge in trauma volumes as PHM are relaxed during the COVID-19 pandemic. The ability to predict decreases in trauma volumes with strict PHM and subsequent surges with reopening can help inform operating room time management and staffing in future waves of COVID-19 or infectious disease pandemics.

Level of Evidence:
Prognostic – Level III