bluuebunny/crossref_metadata_2025_split huggingface dataset:
Fatal outcome of autosomal recessive polycystic kidney disease in neonates with recessive PKHD1 mutations
Authors: Jung Jiwon , Seo Go Hun , Kim Yoo-Mi , Han Young Mi , Park Ji Kwon , Kim Gu-Hwan , Lee Joo Hoon , Park Young Seo , Lee Byong Sop , Kim Ellen Ai-Rhan , Lee Pil-Ryang , Lee Beom Hee 
Published: May 2020

Abstract
Autosomal recessive polycystic kidney disease (ARPKD) is the most common inherited childhood-onset renal disease, with underlying ciliopathy, and varies widely in clinical severity. The aim of this study was to describe the most severe form of ARPKD, with a fatal clinical course, and its association with mutations in polycystic kidney and hepatic disease 1 (fibrocystin) (PKHD1). Clinical, imaging, pathological, and molecular genetic findings were reviewed in patients prenatally affected with ARPKD and their families.
Five unrelated Korean families, including 9 patients, were analyzed. Among the 9 patients, 2 fetuses died in utero, 6 patients did not survive longer than a few days, and 1 patient survived for 5 months with ventilator support and renal replacement therapy. A total of 6 truncating mutations (all nonsense) and 4 missense mutations were detected in a compound heterozygous state, including 4 novel mutations. The most severe phenotypes were shared among all affected patients in each family, irrespective of mutation types.
Our data suggest a strong genotype–phenotype relationship in ARPKD, with minimal intra-familial heterogeneity. These findings are important for informing future reproductive planning in affected families.
Bilateral radial collateral ligament rupture in a shoemaker
Authors: Li Yueying , Wu Guangzhi , Cui Shusen , Zhang Zhan , Gu Xiaosong 
Published: May 2020

Abstract

Introduction:
Rupture of the radial collateral ligament (RCL) of the index metacarpophalangeal (MCP) joint is mostly related to acute local mechanical causes, which severely affect the stability of the MCP joint. However, few cases of chronic bilateral job-related RCL injury have been reported in the literature. There is no consensus on the knowledge of the disease to date. Here, we present an extremely rare case of chronic bilateral RCL injury.

Patient concerns:
A 58-year-old female shoemaker presented with chief complaints of swelling and pain in the radial aspect of the MCP joint of bilateral index fingers since 2 years. There was no history of acute RCL injury. The persistent pain was aggravated while gripping, pulling, buttoning, and twisting.

Diagnosis:
Based on the combination of physical examination, X-ray, and ultrasonic and magnetic resonance imaging, the patient was diagnosed with bilateral tear of the RCLs and joint dislocation of the index MCP joint. Eventually, intra-operative findings confirmed the diagnosis.

Intervention:
The patient underwent bilateral index MCP joint fusion followed by immobilization for 6 weeks. Functional therapy was started after immobilization.

Outcomes:
The patient's chief complaints were significantly alleviated after the operation. At the 12-month follow-up, the patient returned to a full level of activity as a shoemaker without any complications.

Conclusion:
Compared to acute RCL rupture of the index MCP joint, occupation may play an important role in the diagnosis of chronic RCL rupture of the index MCP joint. Our report will provide more diagnostic and treatment experience to deal with this type of injury.
A rare transitory change of the De Winter ST/T-wave complex in a patient with cardiac arrest
Authors: Liu Li , Wang Dan 
Published: May 2020

Abstract

Rationale:
The De Winter ST/T-wave complex is a rare and special electrocardiogram (ECG) manifestation in some patients with a total or subtotal occlusion in the proximal left anterior descending (LAD) coronary artery. It mainly appears as an ST-segment superior oblique depression instead of an ST elevation. However, a transitory change of the De Winter ST/T-wave complex has not been reported previously.

Patient concerns:
A 40-year-old man developed sudden precordial dull and unrelieved pain. One hour later, he suddenly lost consciousness when he arrived at the emergency department. After successful cardiopulmonary resuscitation (CPR), 2 ECGs were taken at 22-minute interval, which showed completely different manifestations. The first ECG showed acute inferior-wall ST elevation myocardial infarction (STEMI), while the second ECG showed a De Winter ST/T-wave complex, which indicated acute anterior-wall myocardial infarction.

Diagnosis:
The patient was diagnosed with acute myocardial infarction.

Interventions:
The patient responded to urgent treatment by percutaneous coronary intervention (PCI).

Outcomes:
It was confirmed that the case was consistent with the main characteristics of a De Winter ST/T-wave complex after PCI. The first ECG was a rare transitory change of the De Winter ST/T-wave complex. The patient was well recovered and discharged.

Lessons:
The De Winter ST/T-wave complex is an extremely dangerous and rare ECG manifestation that is not widely recognized at present. Although the mechanism is not very clear, it should be considered as indicating an equivalent risk of STEMI because it may suggest total or subtotal occlusion in the proximal LAD coronary artery. It is believed that in the near future, the mechanism of ECG including its transitory changes, will be fully revealed.
Comparison of high tone therapy and transcutaneous electrical nerve stimulation therapy in chemotherapy-induced polyneuropathy
Authors: Schaffler-Schaden Dagmar , Sassmann Robert , Johansson Tim , Gampenrieder Simon P. , Rinnerthaler Gabriel , Lampl Kathrin , Herfert Juergen , Lenzhofer Christiane , Landkammer Yvonne T. , Rieder Florian , Greil Richard , Flamm Maria , Niebauer Josef 
Published: May 2020

Abstract

Introduction:
Chemotherapy-induced peripheral neuropathy (CIPN) is a worldwide concern in patients receiving neurotoxic agents for cancer therapy. High tone external muscle stimulation is a promising therapeutic approach to alleviate symptoms of CIPN.

Methods:
This pilot study aims to investigate whether the application of home-based high-tone external muscle stimulation therapy (HTEMS) improves symptoms of CIPN. The trial is planned as a therapist- and assessor-blinded, 1:1 randomized controlled study. A total of 50 patients with chemotherapy-induced peripheral polyneuropathy will be included. All patients will perform therapy at home. Study participants will be allocated randomly to the HTEMS therapy (intervention group) or to the transcutaneous electrical nerve stimulation (TENS, control group), respectively, following a standardized therapy schedule. Compliance of participants can be verified by reading out the tool box. Outcomes will be evaluated at baseline and after 8 weeks of home-based therapy. The primary outcome includes improvement of CIPN according to the patient-reported EORTC QLQ-CIPN 20 questionnaire. Secondary outcomes are the patient-reported change in health-related quality of life and clinician-reported changes of vibration sensibility, tendon reflexes, temperature sensibility, perception of touch, and strength of the lower leg muscles. Further a safety- and process evaluation will be performed.

Discussion:
This pilot RCT aims to evaluate the impact of home-based HTEMS as compared to TENS in CIPN. There is a need for an effective treatment for CIPN and the results of this study are expected to possibly identify a novel and effective treatment strategy in the future.
Efficacy of baby shampoo and commercial eyelid cleanser in patients with meibomian gland dysfunction
Authors: Aryasit Orapan , Uthairat Yuwarat , Singha Penny , Horatanaruang Orasa 
Published: May 2020

Abstract

Background:
To compare the efficacy between Johnson's baby shampoo top-to-toe (No More Tears formula) and OCuSOFT Lid Scrub Original Foaming Eyelid Cleanser (OSO) in patients with grade 2 meibomian gland dysfunction (MGD).

Methods:
Sixty participants with grade 2 MGD were enrolled and analyzed based on intention to treat basis in a prospective, randomized, single-blind trial for eye scrub using either diluted baby shampoo or OSO. The data collection included the Ocular Surface Disease Index (OSDI) questionnaire, compliance, and complications. The eye examinations were according to the Tear Film and Ocular Surface Society at baseline and at post-treatment weeks 4 and 12.

Results:
The mean (±SD) age of the 60 patients who presented with grade 2 MGD was 48.0 ± 13.8 years and 75.0% were females. The OSDI scores of these participants between pre-treatment and post-treatment weeks 4 and 12 improved significantly in both groups (all P < .001). The mean (±SD) differences of the improvement of OSDI score from baseline were not statistically significantly different between the baby shampoo and OSO groups at post-treatment weeks 4 and 12 (P = .57 and P = .54, respectively). The compliance and complications were also not statistically significant between the 2 groups.

Conclusions:
Eyelid scrub using either baby shampoo or OSO and warm compresses could significantly reduce eye irritability and uncomfortable symptoms in grade 2 MGD patients. In this study, the efficacy, compliance, and complications between the 2 groups were not statistically significantly different.
Opening label, dynamic prospective cohort study on the small focus less than 1.0 cm shown by type B ultrasound in breast
Authors: Shi Aiping , Dong Yi , Xie Xinpeng , Du Haiying , Yang Ming , Fu Tong , Song Dong , Han Bing , Zhao Gang , Li Sijie , Du Ye , Jia Hongyao , Wu Di , Fan Zhimin 
Published: May 2020

Abstract

Background:
A consensus has not been achieved regarding the treatment of small nonpalpable breast lesions, and the purpose of this study was to prospectively investigate nonpalpable lesions less than 1.0 cm in diameter to explore the risk factors for such lesions and determine appropriate treatment of such kind of lesions.

Methods:
A total of 1039 patients with small lesions less than 1.0 cm in diameter who underwent mammography and ultrasound from 2009 to 2010 in our institution were prospectively enrolled. Among them, 80 patients underwent biopsy, whose lesions grew by more than 30% of its original size, with an unclear boundary or irregular shape. All patients were followed-up for an average of 24 months, and lesions identified as high-risk types, such as cancer or atypical hyperplasia, of tumors on pathological examination were labeled “meaningful lesions.” Then relevant factors affecting the detection of meaningful lesions were analyzed.

Results:
In total, 40 meaningful lesions including 2 breast cancers were detected, accounting for 3.8% and 0.2% of all patients, respectively. Univariate analysis identified smoking (P = .030), irregular shape (P = .018), unclear boundary (P = .024), and vascularization (P = .023) as risk factors for the detection of meaningful lesions (P < .05). On multivariate analysis, smoking and irregular shape were further identified as independent risk factors for the detection of meaningful lesions.

Conclusion:
The overall incidence of cancer among nonpalpable lesions with a diameter less than 1.0 cm is low. Biopsies are strongly recommended for patients who are smokers or who have small lesions with an irregular shape, whereas regular follow-up observation is likely safe for other patients with small, non-palpable breast lesions.
Analysis of genes associated with prognosis of lung adenocarcinoma based on GEO and TCGA databases
Authors: Yu Ye , Tian Xuemei 
Published: May 2020

Abstract

Backgrounds:
Lung adenocarcinoma (LUAD) is one of the most common malignancies, and is a serious threat to human health. The aim of the present study was to assess potential biomarkers for the prognosis of LUAD through the analysis of gene expression microarrays.

Methods:
The gene expression data for GSE118370 was downloaded from the Gene Expression Omnibus (GEO) database. Differentially expressed genes (DEGs) between normal lung and LUAD samples were screened using the R language. The DAVID database was used to analyze the functions and pathways of DEGs. The STRING database was used to the map protein–protein interaction (PPI) networks, and these were visualized with the Cytoscape software. Finally, the prognostic analysis of the hub gene in the PPI network was performed using the Kaplan–Meier tool.

Results:
A total of 406 downregulated and 203 upregulated DEGs were identified. The GO analysis results revealed that downregulated DEGs were significantly enriched in angiogenesis, calcium ion binding and cell adhesion. The upregulated DEGs were significantly enriched in the extracellular matrix disassembly, collagen catabolic process, chemokine-mediated signaling pathway and endopeptidase inhibitor activity. The KEGG pathway analysis revealed that downregulated DEGs were enriched in neuroactive ligand-receptor interaction, hematopoietic cell lineage and vascular smooth muscle contraction, while upregulated DEGs were enriched in phototransduction. In addition, the top 10 hub genes and the most closely interacting modules of the top 3 proteins in the PPI network were screened. Finally, the independent prognostic value of each hub gene in LUAD patients was analyzed through the Kaplan–Meier plotter. Seven hub genes (ADCY4, S1PR1, FPR2, PPBP, NMU, PF4, and GCG) were closely correlated to overall survival time.

Conclusion:
The discovery of these candidate genes and pathways reveals the etiology and molecular mechanisms of LUAD, providing ideas and guidance for the development of new therapeutic approaches to LUAD.
Monocyte–lymphocyte ratio is a valuable predictor for diabetic nephropathy in patients with type 2 diabetes
Authors: Huang Qinghua , Wu Hui , Wo Mingyi , Ma Jiangbo , Fei Xianming , Song Yingxiang 
Published: May 2020

Abstract
Diabetic nephropathy (DN) is serious threat to human health. Therefore, early prediction of its occurrence is important. This study aimed to assess the predictive significance of monocyte–lymphocyte ratio (MLR) for DN.
A total of 301 patients with type 2 diabetes (T2D), including 212 T2D patients without diabetic-related complications and 99 DN patients, were enrolled. Peripheral white blood cells were measured before treatment to calculate MLR, and the risk factors and predictive significance for T2D and DN were assessed.
T2D patients without diabetic-related complications had higher MLR than control patients (P < .01). However, MLR was significantly higher in DN patients than in T2D patients without diabetic-related complications (P < .001). According to MLR quartiles, higher MLR in DN patients was correlated with higher serum creatinine, estimated glomerular filtration rate, and urinary albumin excretion (UAE) levels (P < .01 or P < .001). Furthermore, MLR was positively correlated with UAE level (R
2 = 0.5973; P < .01) and an independent predictor for DN (odds ratio: 7.667; 95% confidence interval [CI]: 3.689–21.312; P < .001). The area under the receiver-operating characteristic (ROC) curve for MLR was 0.874 (95%CI: 0.830–0.918, P < .001). When the optimal cutoff value was 0.23, the sensitivity and specificity of MLR for DN prediction were 0.85 and 0.74, respectively.
The present findings suggest that MLR is a powerful independent predictor for DN.
Baihu Jia Renshen Decoction for type 2 diabetic mellitus
Authors: Tian Yuan , Zhong Wen , Zhang Yuan , Zhou Linyue , Fu Xiaoxu , Wang Lizhen , Yang Yan , Xie Chunguang 
Published: May 2020

Abstract

Background:
Diabetes mellitus (DM) is one of the main health problems that perplex people all over the world. The prevalence of DM is still increasing in spite of the great efforts have been made to control DM in recent years. Type 2 diabetes mellitus (T2DM) is the most common type of diabetes, accounting for about 90% of all DM cases. Traditional Chinese medicine has been used on treatment of DM and diabetic complications in China for many years. Baihu Jia Renshen Decoction (BJRD) is one of the oldest classic prescriptions of traditional Chinese medicine that applied in the field of diabetes’ treatment. BJRD is proved to be effective after years of clinical practice and basic research. The application of BJRD improves the overall clinical efficacy of T2DM. Therefore, a systematic review is necessary to provide available evidence for BJRD in therapy of T2DM.

Methods:
Different studies from various databases will be involved in this study. Only randomized controlled trials of T2DM patients diagnosed with World Health Organization 1999 diagnostic criteria will be included. We will search the literature in the databases from China Conference Paper Database, manual searching. Electronic database includes PubMed, Embase, Cochrane Library, Web of Science, CNKI (China National Knowledge Internet), WanFang, VIP (Chongqing VIP), and CBM (China Biomedical Literature CDROM Database). The primary outcomes include 2 hour plasma glucose, fasting plasma glucose, hemoglobin A1c, homeostasis model assessment of insulin resistance, and fasting plasma insulin. The secondary outcomes include clinical efficacy and adverse events. Data will be extracted by 2 researchers independently, risk of bias of the meta-analysis will be evaluated based on the Cochrane Handbook for Systematic Reviews of Interventions. All data analysis will be conducted by data statistics software Review Manager V.5.3. and Stata V.12.0.

Results:
This study will synthesize and provide high-quality evidence based on the data of the currently published BJRD for the treatment of T2DM, in terms of 2 hour plasma glucose, fasting plasma glucose, hemoglobin A1c, homeostasis model assessment of insulin resistance and fasting plasma insulin, clinical efficacy, and safety.

Conclusion:
This systematic review aims to evaluate the benefits and harms of BJRD for the treatment of T2DM reported in randomized controlled trials, and provide more options for clinicians and patients to treat T2DM.

Registration number:
INPLASY202040006.
The effect of vitamin D supplementation on the progression of fibrosis in patients with chronic liver disease
Authors: Chen Tiantian , Zuo Xiaohong , Wang Shengju , Yu Penglong , Yuan Jie , Wei Shujun , Chen Jiayi , Sun Yue , Gao Yongxiang , Li Xueping 
Published: May 2020

Abstract

Background:
Hepatic fibrosis (HF) is the common pathological basis of chronic liver disease (CLD). Many data indicate that serum vitamin D (VD) levels in patients with liver fibrosis are significantly lower than those without liver fibrosis, and lower level of serum 1,25(OH)2D3 is also an independent risk factor for patients with liver fibrosis combined with other diseases. VD has the functions of anti-fibrosis, regulating cell proliferation and differentiation, anti-inflammatory, and immune regulation, Therefore, serum 1,25(OH)2D3 level may be negatively correlated with the progression of liver fibrosis. But there is absent convincing evidence-based medicine to confirm the efficacy of VD supplementation for CLD. Thus, we aimed to conduct this meta-analysis to summarize the efficacy of VD supplementation on the progression of fibrosis in patients with CLD.

Methods:
The study only selects clinical randomized controlled trials of VD supplementation for CLD. We will search each database from the built-in until September 2020. The English literature mainly searches Cochrane Library, Pubmed, EMBASE, and Web of Science. While the Chinese literature comes from CNKI, CBM, VIP, and Wangfang database. Meanwhile, we will retrieve clinical trial registries and gray literature. Two researchers worked independently on literature selection, data extraction and quality assessment. The dichotomous data is represented by relative risk (RR), and the continuous is expressed by mean difference (MD) or standard mean difference (SMD), eventually the data is synthesized using a fixed effect model (FEM) or a random effect model (REM) depending on the heterogeneity. The serum VD level, hepatic function and serological indexes of hepatic fibrosis were evaluated as the main outcomes. While several secondary outcomes were also evaluated in this study. The statistical analysis of this Meta-analysis was conducted by RevMan software version 5.3.

Results:
This meta-analysis will further determine the beneficial efficacy of VD supplementation on the progression of fibrosis in patients with CLD.

Conclusion:
This study determines the positive efficacy of VD supplementation for CLD.

Ethics and dissemination:
This review is based solely on a secondary study of published literatures and does not require ethics committee approval. Its conclusion will be disseminated in conference papers, magazines or peer-reviewed journals.

Registration number:
INPLASY202040054.
Dislocation of Internal Organs of the Neck and Trunk Into Crush Injuries of the Head
Authors: Szleszkowski Łukasz , Golema Wojciech , Jurek Tomasz 
Published: May 2020

Abstract
The authors report on a case of a 43-year-old male pedestrian struck and run over by a truck. The accident was accompanied by a mechanism of injury resulting in a unique autopsy picture of trunk and head injuries. The internal organs of the neck (larynx, trachea, esophagus), chest (lungs, thoracic aorta), and part of the abdominal cavity (bottom of the stomach and fragments of the liver) were dislocated in the direction of the head. The result was a traumatically deformed, crushed skull characterized by an extensive gaping wound with excerebration. The organs were dislocated through a channel formed by the rupture of soft tissues and comminuted fracture of the base of the skull. Parts of internal organs (larynx, trachea, and aorta) were turned 180° around the transverse axis of the body. This report, due to its unusual character, may be useful during detailed analysis of potential injury mechanisms in traffic accidents involving pedestrians.
Postmortem Computed Tomography and Magnetic Resonance Imaging of an Abdominal Gunshot Wound
Authors: Gascho Dominic , Bolliger Stephan A. , Thali Michael J. , Tappero Carlo 
Published: May 2020

Abstract
The use of postmortem computed tomography (CT) has been described in many articles concerning gunshot injuries. Postmortem magnetic resonance imaging (MRI) for better assessment of soft tissue injuries has also been mentioned in the literature, albeit much less often. The use of postmortem MRI for abdominal gunshot wounds has not been previously presented in the literature. The present case report describes the findings of an abdominal gunshot wound detected by postmortem CT and MRI, followed by an autopsy. The main imaging findings on CT were a hyperdense ring at the entrance wound, which indicated the muzzle imprint mark, a hyperdense region beneath the skin, which was suggestive of combustion residue, gas cavities surrounding the bullet path, which might be related to the temporary cavity, and a fracture of the 13th rib on the left. Magnetic resonance imaging provided a clear depiction of defects in the muscle tissue and peritoneal fat, as well as an injury to the left kidney and a large volume of blood in the abdominal cavity. Computed tomography combined with MRI provided a descriptive presentation of the intracorporeal trajectory noninvasively. Autopsy confirmed the radiologic findings but additionally revealed further relevant findings, which were not detected radiologically, such as a duodenal perforation. Autopsy also detected subendocardial hemorrhages and shock kidney, which were consistent with severe blood loss.
The imaging findings and their interpretations are discussed in this case report, as well as the role of CT and MRI in the assessment of abdominal gunshot wounds compared with autopsy.