bluuebunny/crossref_metadata_2025_split huggingface dataset:
Treatment of end-stage lymphedema following radiotherapy for lymphoma
Authors: Moon Kyung-Chul , Yoon In-Jae 
Published: May 2021

Abstract

Rationale
: Despite significant advances in microsurgical techniques, simultaneous vascularized lymph node transfer (VLNT) and lymphovenous anastomosis (LVA) surgeries may be effective for treatment of end-stage lymphedema. This case report describes the successful treatment of end-stage lymphedema with VLNT and LVA.

Patient Concerns:
A 72-year-old patient with bilateral lower extremity lymphedema was referred to our lymphedema clinic. This patient had a history of lymphoma and treated with radiotherapy on right inguinal area 26 years ago. Interestingly, the patient developed lymphedema on both the right and left lower extremities although she had radiotherapy on her right inguinal area.

Diagnosis:
According to the indocyanine green lymphography, lymphoscintigraphy, and magnetic resonance lymphangiography, the patient was diagnosed with end-stage lymphedema (International Society of Lymphology stage 3).

Intervention:
The patient underwent simultaneous VLNT and LVA for treatment of end-stage lymphedema.

Outcomes:
Significant reduction in circumference and volume of lower extremity was achieved following simultaneous VLNT and LVA

Lessons:
Simultaneous VLNT and LVA surgeries may be effective in patients with end-stage lymphedema.
Relationship between enteral nutrition and serum levels of inflammatory factors and cardiac function in elderly patients with heart failure
Authors: Zhao Shutang , Wang Xiren 
Published: May 2021

Abstract

Background
: Published studies investigating enteral nutrition's effect on serum inflammatory factors and the cardiac function of malnourished elderly patients with heart failure (HF) are of poor quality, with small sample sizes, and involve a homogeneous population. Therefore, in order to provide new medical evidence for clinical treatment, we undertook a systematic review and meta-analysis to assess the relationship between enteral nutrition and serum levels of inflammatory factors and cardiac function in elderly patients with HF.

Methods
: The protocol was written following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses Protocols (PRISMA-P) statement guidelines. Electronic databases including Web of Science, Embase, PubMed, Wanfang, Data, Scopus, Science Direct, Cochrane Library will be searched in April 2021 by 2 independent reviewers. The primary outcome is body mass index, triceps skin fold thickness, upper arm muscle circumference, serum total protein, albumin, and hemoglobin's change in index; secondary outcomes include left ventricular ejection fraction, B-type natriuretic peptide, interleukin-6, C-reactive protein, and tumor necrosis factor-α. The risk of bias assessment of the included studies was performed by 2 authors independently using the tool recommended in the Cochrane Handbook for Systematic Reviews of Interventions (version 5.1.0). We will perform meta-analysis using Review Manager Software.

Results
: The review will add to the existing literature by showing compelling evidence and improved guidance in clinic settings.

Conclusion
: Its findings will provide helpful evidence for the application of enteral nutrition in elderly patients with HF.

OSF registration number:
10.17605/OSF.IO/RTYBP.
A novel LMNA indel mutation identified in a family with atrioventricular block and atrial fibrillation
Authors: Jia Zhangrong , Zhang Yue’an , Deng Junping , Guo Yanqing , Du Yimei , Wang Gang , Xu Jiyao , Li Xiaoming 
Published: May 2021

Abstract
It is well known that many genetic factors are involved in the occurrence and progression of atrioventricular block (AV block) and atrial fibrillation (AF). However, the genetic variants discovered so far have only explained parts of these processes. More genes and variants remain to be identified. In the present study, a three-generation family with an autosomal dominant form of AV block and AF was enrolled. Whole exome sequencing was conducted in three affected and one unaffected family member. A total of 64 nonsynonymous variants was shared by three affected individuals and not present in the unaffected individual. By selection of variants absent in the known databases and were predicted to be deleterious, 4 novel variants were identified. Only one novel frameshift insertion in the LMNA gene (c.825_826insCAGG) was identified in another affected family member and not detected in other non-affected family members and the 100 controls. Our finding expanded the spectrum of variants associated with AV block and AF, and was valuable in the genetic diagnosis of AV block and AF.
Sarilumab (IL-6R antagonist) in critically ill patients with cytokine release syndrome by SARS-CoV2
Authors: Corominas Hèctor , Castellví Ivan , Diaz-Torné César , Matas Laia , de la Rosa David , Mangues Maria Antònia , Moya Patricia , Pomar Virginia , Benito Natividad , Moga Ester , Sosa Nerea Hernandez-de , Casademont Jordi , Domingo Pere 
Published: May 2021

Abstract
Blocking IL-6 pathways with sarilumab, a fully human anti–IL-6R antagonist may potentially curb the inflammatory storm of SARS-CoV2. In the present emergency scenario, we used “off-label” sarilumab in 5 elderly patients in life-threatening condition not candidates to further active measures. We suggest that sarilumab can modulate severe COVID-19-associated Cytokine Release Syndrome.
Efficacy and safety of acupoint catgut embedding in treating postoperative pain of mixed hemorrhoids
Authors: Pei Xiaorui , Song Shijun , Li Haotian , Lu Debao 
Published: May 2021

Abstract

Background:
Pain is a common complication after mixed hemorrhoids, which seriously affects the recovery of patients and prolongs the length of hospital stay. Acupoint catgut embedding has advantages in improving a variety of acute and chronic pain diseases, but there is still a lack of rigorous randomized controlled studies to verify its efficacy and safety in the treatment of postoperative pain of mixed hemorrhoids. Therefore, the purpose of this randomized controlled trial is to evaluate the clinical efficacy of acupoint catgut embedding in the treatment of postoperative pain of mixed hemorrhoids.

Methods:
This is a prospective randomized controlled trial to study the efficacy and safety of acupoint catgut embedding in the treatment of postoperative pain of mixed hemorrhoids. Approved by the clinical research ethics committee of our hospital, the patients were randomly divided into observation group and control group according to 1:1. The observation group received acupoint catgut embedding before the operation, while the control group received no special treatment. The efficacy and safety indexes were concerned after the operation, and the observation indexes included: resting state and visual analogue scale (VAS) score during defecation, postoperative hospitalization time, total amount of analgesic use, adverse reactions, etc. Finally, we carried on the data statistical analysis through the SPSS version 19.0.

Discussion:
This study will evaluate the efficacy and safety of acupoint catgut embedding in the treatment of postoperative pain of mixed hemorrhoids, and the results of this study will provide a new idea for the selection of postoperative analgesia for mixed hemorrhoids resection.

Trial registration:
OSF Registration number: DOI 10.17605/OSF.IO/T2ZGY.
Identification of a novel heterozygous germline RAD52 missense mutation in a patient with gallbladder carcinoma
Authors: Zhao Wenhu , Dai Yongjiu , Yue Lei , Gu Jian , Meng Erhong , Wang Dongliang , Liu Siyao , Han Xinyin , Wang Xintong , Li Guojun , Dai Xinzheng 
Published: May 2021

Abstract

Rationale:
Gallbladder carcinoma is a malignant biliary tract tumor which is characterized by poor prognosis. Recent advances in genomic medicine have identified a few novel germline mutations that contribute to the increased risk of gallbladder carcinoma. RAD52 is a crucial human deoxyribonucleic acid (DNA) repair gene involved in maintaining genomic stability and preventing tumor occurrence.

Patient concerns:
A 57-year-old man was hospitalized for space-occupying lesions in the gallbladder.

Diagnosis:
A diagnosis of gallbladder adenocarcinoma was made based on computed tomography, B-ultrasound, blood tests, and postoperative pathology.

Interventions:
Next-generation sequencing using a 599-gene panel and Sanger sequencing were performed to validate the mutation in the proband and his family members, respectively.

Outcomes:
A novel potentially pathogenic heterozygous germline RAD52 missense mutation (c.276T > A: p.N92K) was identified in the patient. Sanger sequencing revealed that this variation was not observed in unaffected family members.

Lessons:
We identified a novel heterozygous germline RAD52 missense mutation in a patient with gallbladder carcinoma. Our results added to the current body of knowledge. It also provides new insights into genetic counseling and targeted therapeutic strategies for patients with gallbladder carcinoma.
Health-related quality of life in bladder cancer patients: bladder cancer-specific instruments and domains. Part 2
Authors: Zimmermann Kristin , Mostafaei Hadi , Heidenreich Axel , Schmelz Hans U. , Shariat Shahrokh F. , Mori Keiichiro 
Published: May 2021

Purpose of review
Several instruments have been designed to evaluate health-related quality of life (HRQoL) in patients with bladder cancer (BC). However, they vary in purpose, domains, and quality. To identify QoL instruments that have been validated for BC patients and to critically assess their domains and limitations.

Recent findings
Of the 11 instruments identified, seven have been externally validated. Of these, four can be used across all disease states; two are available for QoL assessment in patients with non-muscle invasive bladder cancer (NMIBC); and the European Organisation for Research and Treatment of Cancer (EORTC) module is intended for use together with a generic cancer-specific tool. Of the three instruments available to assess QoL in patients with muscle invasive bladder cancer (MIBC), EORTC Quality of Life Questionnaire-Bladder Cancer Muscle Invasive30 (QLQ-BLM30) and Functional Assessment of Cancer Therapy-Bladder-Cystectomy (FACT-Bl-Cys) need to be used each with their respective generic core questionnaire, whereas Ileal Orthotopic Neobladder-Pro Questionnaire is intended only to evaluate patients who have received an orthotopic neobladder.
The core domains assessed by these instruments include social functioning, mental health, physical function, urinary function and sexual function.

Summary
No optimal BC-specific QoL instruments exist. Multiple cancer- and BC-specific instruments are required to cover each of the relevant domains. Selected tools should be reviewed within the context of specific research objectives.
Association Between SHMT1 rs1979277 Polymorphism and Risk of Acute Lymphoblastic Leukemia: A Systematic Review and Meta-analysis
Authors: Yang Qian-Qian , Zhang Yan , Yang Jie 
Published: May 2021

Objectives:
The aim of this study was to explore the potential association the cytosolic serine hydroxy methyltransferase (SHMT1) rs1979277 polymorphism and the risk of acute lymphoblastic leukemia (ALL).

Materials and Methods:
Comprehensive search of Web of Science, PubMed, Ovid, Cochrane Library, Embase, China National Knowledge Infrastructure (CNKI), and China Biomedical Literature Database electronic database, was performed to identify relevant studies published throughout April 30, 2019. The heterogeneity in the study was judged by the I
2 and P-values, and then the random ratio or fixed effect was used to calculate the pooled odds ratios (OR) based on the presence or absence of heterogeneity. Sensitivity analysis is used to estimate the impact of individual studies on aggregate estimates. The publication bias of the study was tested using a funnel plot and an Egger regression.

Results:
Nine studies with a total of 6492 participants (2971 patients; 3521 controls) were included in this meta-analysis. We found that SHMT1 rs1979277 polymorphism was not significantly associated with the risk of ALL in the dominant model: CC versus CT+TT (OR=0.84, 95% confidence interval [CI]: 0.46-1.54, P=0.57), recessive model: CC+CT versus TT (OR=0.81, 95% CI: 0.44-1.49, P=0.50) and allele model: C versus T (OR=0.84, 95% CI: 0.52-1.35, P=0.48). In subgroup analysis by ethnicity, no significant association were found in dominant, recessive and allele models in both Caucasian and Asian populations.

Conclusion:
Our study indicated that the SHMT1 rs1979277 polymorphism was not associated with the risk of susceptibility to ALL.
Implementing Trauma-Informed Strategies for Mothers of Infants with Neonatal Abstinence Syndrome
Authors: Linn Natalie , Stephens Kimberly , Swanson-Biearman Brenda , Lewis Deborah , Whiteman Kimberly 
Published: May 2021

Abstract

Purpose:
To improve outcomes of infants with neonatal abstinence syndrome (NAS) by implementing an evidence-based approach to care.

Methods:
An interdisciplinary team developed and implemented an educational module about the elements and principles of trauma-informed care (TIC) and standardized education on NAS for mothers with substance use disorder (SUD). The team collaborated with community behavioral health professionals to secure the services of a certified recovery specialist. Primary outcome measures of average length of stay (LOS) and admissions to special care nursery (SCN) for NAS infants were analyzed.

Results:
Following health care team education on TIC and implementation of the standardized NAS brochure, average LOS decreased significantly from 6.5 to 5.1 days from baseline period (January–December 2019) to the implementation period (February–June 2020; p = 0.03). There was no difference in SCN admission from the baseline period (February–June 2019) to the implementation period (February–June 2020). Referrals to certified recovery specialists did not change.

Clinical Implications:
Education on the impact of trauma on new mothers with SUD can promote collaboration between them and the neonatal team. Standardizing education for new mothers of infants with NAS can help to engage families of infants with NAS and improve clinical outcomes.
Pain during and after coronavirus disease 2019: Chinese perspectives
Authors: Jiang Feng , Yang Wan-Li , Wang Jia-Wei , Zhu Zhen , Luo Ceng , Arendt-Nielsen Lars , Song Xue-Jun 
Published: May 2021

Abstract
The coronavirus disease 2019 (COVID-19) global pandemic poses a major threat to human health and health care systems. Urgent prevention and control measures have obstructed patients' access to pain treatment, and many patients with pain have been unable to receive adequate and timely medical services. Many patients with COVID-19 report painful symptoms including headache, muscle pain, and chest pain during the initial phase of the disease. Persistent pain sequela in patients with COVID-19 has a physical or mental impact and may also affect the immune, endocrine, and other systems. However, the management and treatment of neurological symptoms such as pain are often neglected for patients hospitalized with COVID-19. Based on the China's early experience in the management of COVID-19 symptoms, the possible negative effects of pre-existing chronic pain in patients with COVID-19 and the challenges of COVID-19 prevention and control bring to the diagnosis and treatment of chronic pain are discussed. This review calls to attention the need to optimize pain management during and after COVID-19.
Perioperative Approach to Reducing Hematoma during Rhytidectomy: What Does the Evidence Show?
Authors: Cason Roger W. , Avashia Yash J. , Shammas Ronnie L. , Savetsky Ira L. , Rohrich Rod J. 
Published: May 2021

Background:
Postoperative hematoma remains the most common complication in rhytidectomy, prompting surgeons to use a multitude of adjunctive measures to prevent its occurrence. The goal of this systematic review was to determine which of these measures are supported by strong evidence, and to highlight those that remain unsubstantiated and require further investigation.

Methods:
A systematic search was performed of the PubMed and Embase databases for English literature from 1975 to March of 2020 containing designated keywords, and focusing specifically on adjunctive measures aimed at preventing hematoma in rhytidectomy. The resultant articles were then systematically screened according to predefined inclusion and exclusion criteria to determine eligibility for inclusion in the study.

Results:
The keyword search yielded a total of 2391 articles. Title and abstract screening resulted in 103 articles that were eligible for full-text review. Ultimately, 48 articles met final inclusion criteria. The articles were categorized into their particular mode of intervention: fibrin tissue sealants, perioperative medications (anesthetics, antihypertensives, miscellaneous medications), and intraoperative maneuvers (hemostatic agents, preinfiltration, intraoperative maneuvers, and drains). Nine studies were indexed as evidence Level II and 24 as evidence Level III. The remainder of studies constituted Level IV evidence.

Conclusions:
Adjunctive interventions have been borne out of necessity in efforts to reduce postoperative hematoma after rhytidectomy. Although many of these interventions have promising results, the current literature supports the senior author’s (R.J.R.) experience that an evidence-based, multimodal approach is ideal to minimize the rates of hematoma after rhytidectomy.
Narrowing and Operated Appearance of the Middle Nasal Third after Hump Resection without Middle Vault Reconstruction
Authors: Tasman Abel-Jan , Gassner Holger G. 
Published: May 2021

Background:
Little is known about the incidence of narrowing and an operated appearance of the dorsum after hump resections if the dorsum is not reconstructed with spreader grafts or spreader flaps.

Methods:
Patients who had undergone a composite hump resection (n = 22) or a component hump resection (n = 25) were interviewed and photographed with a minimum follow-up of 12 months. Four expert rhinoplasty surgeons and four laypersons rated the appearance of the middle third of the dorsum on the preoperative and postoperative en face photographs. The quartile of the most surgical appearing outcomes was analyzed regarding potentially preventive surgical maneuvers.

Results:
No patient was dissatisfied with the frontal view of the nose. Agreement between expert and lay raters (Kendall’s coefficient of concordance) was 0.51 (p < 0.01) and 0.34 (p = 0.06) for appearance and 0.55 (p < 0.01) and 0.46 (p < 0.01) for width, respectively. Expert raters found that a surgical appearance of the dorsum had both increased and decreased after surgery, with an average increase of 0.27 ± 1.05 and 0.21 ± 1.18 points on a five-point Likert scale for composite and component resection, respectively. Pearson correlation between the degree of dorsal lowering and surgical appearance on the anterior view was 0.31 (p = 0.026). Reconstruction of the middle third could potentially have improved the outcome in 15 percent of the patients.

Conclusions:
Lowering of the dorsum without middle vault reconstruction on average increased an operated appearance to a small degree that was not noted by the patients. This effect was similar for composite and component hump resections.

CLINICAL QUESTION/LEVEL OF EVIDENCE:
Therapeutic, III.
Novel PSEN1 and PSEN2 Mutations Identified in Sporadic Early-onset Alzheimer Disease and Posterior Cortical Atrophy
Authors: Li Xu-Ying , Cui Yue , Jing Donglai , Xie Kexin , Zhong Xiaoling , Kong Yu , Wang Yuting , Chu Min , Wang Chaodong , Wu Liyong 
Published: May 2021

Background/Purpose:
Sporadic early-onset Alzheimer disease (sEOAD) and its visual variant, posterior cortical atrophy (PCA), have a disease onset at less than 65 years of age with no familial aggregation. The etiology and genetic basis of these diseases remain poorly understood. Our study aimed to identify additional mutations or variants associated with sEOAD and PCA and to further examine their genetic and phenotypic spectrums.

Methods:
We performed whole-exome sequencing and analyzed the clinical and neuroimaging features of mutation carriers with 29 patients having sEOAD and 25 having PCA.

Results:
Nine rare damaging variants were identified in 4 patients with sEOAD and 3 with PCA. A novel mutation (p.A136V) in PSEN1 was identified in a patient with sEOAD and a likely pathogenic variant (p.M239T) was identified for PSEN2 in a patient with PCA. In addition, 7 rare damaging variants were detected in other genes related to neurodegenerative diseases. The patient carrying the PSEN1 p.A136V mutation presented with typical clinical and imaging features of sEOAD, and the PCA patient with the PSEN2 p.M239T mutation presented with visuospatial impairment as the initial symptom.

Conclusion:
Our study expands the PSEN1 mutation spectrum of sEOAD and highlights the importance of screening PSEN1 and/or PSEN2 mutations in PCA patients.
A practical approach to peripheral autonomic neuropathies
Authors: Lamotte Guillaume , Sandroni Paola 
Published: May 2021

Purpose of review
The review focuses on the practical evaluation and management of patients with autonomic neuropathies.

Recent findings
Autonomic neuropathies are complex disorders and result in diverse clinical manifestations that affect the cardiovascular, gastrointestinal, urogenital, and sudomotor systems. The autonomic medical history is key when seeing a patient with suspected autonomic neuropathy. The history guides the clinical evaluation, laboratory testing, and autonomic testing in patients with autonomic neuropathies. The treatment of autonomic neuropathies is based on the combination of disease-modifying therapies, symptomatic pharmacologic therapies, and nonpharmacological management. Response to treatment can be assessed with quantitative autonomic biomarkers.

Summary
Treatment of autonomic neuropathies should be individualized, guided by disease state, medications’ mechanism of action and adverse event profile as well as cost. Genetic discoveries and pathologic understanding lead to the development of disease-modifying therapies as seen in familial amyloid polyneuropathy.