bluuebunny/crossref_metadata_2025_split huggingface dataset:
Transition of a Mallory-Weiss syndrome to a Boerhaave syndrome confirmed by anamnestic, necroscopic, and autopsy data
Authors: Cuccì Maria , Caputo Fiorella , Fraternali Orcioni Giulio , Roncallo Anna , Ventura Francesco 
Published: December 2018

Abstract

Rationale:
Spontaneous esophageal rupture (Boerhaave syndrome) is a rare, though frequently fatal, event. It is generally caused by a sudden increase in pressure inside the esophagus. In some cases, full-thickness perforations of the esophagus may develop from previous lesions that initially involve only the esophageal mucosa (Mallory-Weiss syndrome) and which, following further triggering events, give rise to a transmural lesion.

Patient concerns:
Here, we present the case of a 45-year-old subject who suddenly died of acute cardio-respiratory failure, an autopsy was performed to identify the cause of death.

Diagnosis, interventions, and outcomes:
The autopsy examination revealed a full-thickness rupture of the esophageal wall. Through the integration of necroscopy findings, anamnestic data, and histopathological examination, it has been possible to establish that complete esophageal rupture resulted from the evolution of a previous partial lesion of the esophageal wall, and that an untreated Mallory-Weiss syndrome evolved into a rapidly fatal Boerhaave syndrome.

Lessons:
This case shows that distal esophageal tears, rather than constituting a distinct entity, may be part of a spectrum of diseases and that a partial lesion of the esophageal wall caused by barogenic injury may evolve into a full-thickness rupture following further barotraumas.
Effect of glycated hemoglobin index and mean arterial pressure on acute ischemic stroke prognosis after intravenous thrombolysis with recombinant tissue plasminogen activator
Authors: Liu Shi-Ying , Cao Wen-Feng , Wu Ling-Feng , Xiang Zheng-Bing , Liu Shi-Min , Liu Hai-Yan , Pan Yang , Nie Feng , Wu Xiao-Mu , Xie Xu-Fang 
Published: December 2018

Abstract
To determine whether glycated hemoglobin and mean arterial pressure (MAP) during thrombolysis are prognostic factors of intravenous thrombolysis with recombinant tissue plasminogen activator (rt-PA) for acute ischemic stroke (AIS).
A total of 125 AIS patients, who received rt-PA intravenous thrombolysis in our hospital, were included into the present study, and divided into good prognosis group and poor prognosis group. Univariate and multivariate logistic regression analyses were used to determine the prognostic factors of AIS treated by rt-PA thrombolysis, Spearman correlation analysis was used to analyze the correlation of the accumulated cigarette consumption in the smoking subgroup and glycated hemoglobin in the diabetic subgroup with the prognosis after intravenous thrombolysis and the symptomatic intracranial hemorrhage (sICH).
Univariate analysis revealed that the interval from onset to thrombolysis, baseline National Institutes of Health Stroke Scale (NIHSS) score, MAP during thrombolysis and DRAGON score were prognostic factors. Multivariate logistic regression analysis revealed that baseline NIHSS score and MAP during thrombolysis were independent prognostic factors for rt-PA thrombolysis. Furthermore, the glycated hemoglobin index was positively correlated with the incidence of sICH.
The NIHSS score before thrombolysis and MAP during thrombolysis were independent factors for the prognosis of AIS treated by thrombolysis. The higher the glycated hemoglobin index of diabetic patients, the more likely they are to develop sICH, the glycated hemoglobin index was negatively correlated with the prognosis after intravenous thrombolysis. The accumulated cigarette consumption was negatively correlated with the prognosis after intravenous thrombolysis.
Targeted next-generation sequencing identifies a novel mutation of LAMB3 in a Chinese neonatal patient presented with junctional epidermolysis bullosa
Authors: Wang Hairong , Yang Yun , Zhou Jieqiong , Cao Jiangxia , He Xuelian , Li Long , Gao Shuyang , Mao Bing , Tian Ping , Zhou Aifen 
Published: December 2018

Abstract

Rationale:
Epidermolysis bullosa (EB) refers to a group of rare inherited mechanobullous disorders that present with great clinical and genetic heterogeneity. Its severity ranges from mild blistering to life-threatening. However, the clinical symptoms of different types of EB overlap significantly, especially at an early stage. Thus it is important to clarify the diagnosis for prognostic implications, patient management, and genetic counseling.

Patient concerns:
Here, we report a 10-day-old male neonate from a nonconsanguineous Chinese family. He showed a bulla on the left lower limb lasting for 3 days, erosions around fingertips and toe tips at birth (predominantly on fingers), with the progressive spread of generalized blisters over the body as well as the development of the illness.

Diagnosis:
The patient was diagnosed with suspected epidermolysis bullosa according to the blisters and erosions of the body as well as the pyogenic fingernails and toenails.

Interventions:
The patient was performed targeted next-generation sequencing (NGS) with 9 candidate known genes, subsequently, his parents were screened for the mutations identified in the patient by Sanger sequencing. Then, prenatal diagnosis with amniotic fluid was performed in the subsequent pregnancy by Sanger sequencing.

Outcomes:
Targeted NGS revealed a previously unreported splice site variant c.822+1G>A (IVS 8) and a known recurrent nonsense variant c.124C>T (p.Arg42Ter, exon 3) in LAMB3 gene. The patient's father possessed a heterozygous c.822+1G>A mutation, his mother possessed a heterozygous c.124C>T mutation. For the subsequent pregnancy, the analyses of amniotic fluid sample indicated that the fetus carried neither of the mutations.

Lessons:
Our finding will further enlarge LAMB3 genotype-phenotype correlations spectrum. Targeted capture sequencing is a valuable method to illustrate precise molecular pathology in patients with EB disorders, especially at an early stage of the clinical evaluation of complex disorders to avoid unnecessary and economically wasteful tests.
The impact of abdominal fat on abdominal aorta calcification measured on non-enhanced CT
Authors: Goldenberg Limor , Saliba Walid , Hayeq Hashem , Hasadia Rabea , Zeina Abdel-Rauf 
Published: December 2018

Abstract
Cardiovascular (CV) morbidity, atherosclerosis, and obesity are all targets of clinical concern and vast research, as is the association between them. Aim of this study is to assess the impact of adipose tissue (including visceral and subcutaneous fat) on abdominal aorta calcification measured on non-enhanced computed tomography (CT). We retrospectively included 492 patients who underwent non-enhanced CT scans during workup for clinically suspected renal colic. All scans were reviewed for abdominal aorta calcification, liver attenuation, and thickness of visceral and subcutaneous fat. Multivariate general linear regression models were used to assess the association between abdominal aorta calcium score and adiposity measures. In the model that included only adiposity measures; visceral fat thickness had statistically significant direct association with abdominal aorta calcium score (B = 67.1, P <.001), whereas subcutaneous pelvic fat thickness had a significant inverse association with abdominal aorta calcium score (B = −22.34, P <.001). Only the association of subcutaneous pelvic fat thickness with abdominal aorta calcium score remained statistically significant when controlling for age, sex, smoking, hypertension, diabetes mellitus, and hyperlipidemia (B = −21.23, P <.001). In this model, the association of visceral fat remained statistically significant in females (B = 84.28, P = .001) but not in males (B = 0.47, P = .973). Visceral fat thickness and subcutaneous pelvic fat thickness were found to have opposing associations with abdominal aorta calcium score. This suggests that while visceral fat may have a lipotoxic effect on aortic atherosclerotic processes, subcutaneous pelvic fat may have a protective role in these processes.
Red-flag sepsis and SOFA identifies different patient population at risk of sepsis-related deaths on the general ward
Authors: Kopczynska Maja , Sharif Ben , Cleaver Sian , Spencer Naomi , Kurani Amit , Lee Camilla , Davis Jessica , Durie Carys , Joseph-Gubral Jude , Sharma Angelica , Allen Lucy , Atkins Billie , Gordon Alex , Jones Llewelyn , Noble Amy , Bradley Matthew , Atkinson Henry , Inns Joy , Penney Harriet , Gilbert Carys , Walford Rebecca , Pike Louise , Edwards Ross , Howcroft Robyn , Preston Hazel , Gee Jennifer , Doyle Nicholas , Maden Charlotte , Smith Claire , Azis Nik Syakirah Nik , Vadivale Navrhinaa , Battle Ceri , Lyons Ronan , Morgan Paul , Pugh Richard , Szakmany Tamas 
Published: December 2018

Abstract
Controversy exists regarding the best diagnostic and screening tool for sepsis outside the intensive care unit (ICU). Sequential organ failure assessment (SOFA) score has been shown to be superior to systemic inflammatory response syndrome (SIRS) criteria, however, the performance of “Red Flag sepsis criteria” has not been tested formally.
The aim of the study was to investigate the ability of Red Flag sepsis criteria to identify the patients at high risk of sepsis-related death in comparison to SOFA based sepsis criteria. We also investigated the comparison of Red Flag sepsis to quick SOFA (qSOFA), SIRS, and national early warning score (NEWS) scores and factors influencing patient mortality.
Patients were recruited into a 24-hour point-prevalence study on the general wards and emergency departments across all Welsh acute hospitals. Inclusion criteria were: clinical suspicion of infection and NEWS 3 or above in-line with established escalation criteria in Wales. Data on Red Flag sepsis and SOFA criteria was collected together with qSOFA and SIRS scores and 90-day mortality.
459 patients were recruited over a 24-hour period. 246 were positive for Red Flag sepsis, mortality 33.7% (83/246); 241 for SOFA based sepsis criteria, mortality 39.4% (95/241); 54 for qSOFA, mortality 57.4% (31/54), and 268 for SIRS, mortality 33.6% (90/268). 55 patients were not picked up by any criteria. We found that older age was associated with death with OR (95% CI) of 1.03 (1.02–1.04); higher frailty score 1.24 (1.11–1.40); DNA-CPR order 1.74 (1.14–2.65); ceiling of care 1.55 (1.02–2.33); and SOFA score of 2 and above 1.69 (1.16–2.47).
The different clinical tools captured different subsets of the at-risk population, with similar sensitivity. SOFA score 2 or above was independently associated with increased risk of death at 90 days. The sequalae of infection-related organ dysfunction cannot be reliably captured based on routine clinical and physiological parameters alone.
Survival nomograms for stage III colorectal cancer
Authors: Li Chenglong , Pei Qian , Zhu Hong , Tan Fengbo , Zhou Zhongyi , Zhou Yuan , Li Yuqiang , Pei Haiping 
Published: December 2018

Abstract
The postoperative survival of patients with stage III colorectal cancer (CRC) various obviously. We sought to develop novel nomograms for predicting the survival of these patients after radical surgery and postoperative chemotherapy.
A total of 620 consecutive patients with stage III CRC who underwent curative resection and postoperative chemotherapy between January 2009 and December 2015 were retrospectively collected and randomly allocated to the training (n = 372) or validation cohort (n = 248). Clinicopathological factors were collected and analyzed. On the basis of data from 372 patients in the training set, predictive factors for overall survival (OS) and disease-free survival (DFS) were identified using multivariate Cox regression and used to construct nomograms. The predictive performance of the nomograms was assessed by concordance index (C-index) and calibration plots. An external cohort of 248 patients was used to validate the nomograms. Furthermore, nomogram performance was compared with the performance of T and N stage stratification.
Tumor differentiation grade, lymph node metastasis ratio, intravascular emboli (IVE), preoperative serum carcinoembryonic antigen (CEA) level, albumin to globulin ratio (AGR), T stage and N stage were significant prognostic factors for OS on multivariate analysis; whereas, Tumor differentiation grade, lymph node metastasis ratio, IVE, AGR and N stage were significant for DFS. Nomograms to predict 3- and 5-year OS and DFS were established that performed well (C-indexes of 0.734 [95% CI, 0.691–0.779] for OS and 0.699 [95% CI, 0.657–0.740] for DFS prediction), and nomogram accuracy was confirmed in the validation cohort. Furthermore, model comparison proved that the nomograms were superior to risk stratification by T and N stage for stage III CRC.
We propose 2 practical nomograms for stage III CRC patients that provide more accurate prognostic predictions and should be helpful for guiding individualized treatment and postoperative surveillance.
Association between MDM2 SNP309 and endometrial cancer risk
Authors: Zou Xinwei , Zhang Yi , Zhang Lin , Li Jiaxi , Zhu Chenjie , Cheng Qiuhong , Zhou Jinhua , Chen Youguo 
Published: December 2018

Abstract

Background:
Murine double minute 2 homolog (MDM2) plays an important role in the downregulation of P53 tumor suppressor gene. MDM2 inhibits P53 transcriptional activity and thereby results in accelerated tumor formation. Overexpression of MDM2 has been found in several cancer types including endometrial cancer. SNP309 is located in the promoter region of MDM2 and contributes to the overexpression of MDM2. The association between MDM2 SNP309 polymorphism and endometrial cancer risk has been investigated in several studies; however, the conclusion remains controversial.

Objectives:
We performed the present meta-analysis to give a comprehensive conclusion of the association between MDM2 SNP309 polymorphism and endometrial cancer susceptibility.

Methods:
We conducted a literature research on PubMed, Embase, Cochrane Library, OVID, Web of Science, Wan Fang, CNKI, and CQVIP databases up to July 31, 2018. Newcastle–Ottawa scale was used to assess the quality of studies. We evaluated the strength of association by combining odds ratios (ORs) and 95% confidence intervals (CIs) in 5 different genetic models under a fixed-effect model or random-effect model. We further conducted subgroup analysis by ethnicity, source of control, histological type, clinical type, grade, and stage of tumor. Sensitivity analysis and publication bias were also performed.

Results:
Nine eligible studies were finally included in our meta-analysis. We found MDM2 SNP309 polymorphism increased the risk of endometrial cancer under allele model (OR: 1.23, 95% CI: 1.06–1.41, P = .005), homozygote model (OR: 1.43, 95% CI: 1.13–1.81, P = .003) and recessive model (OR: 1.55, 95% CI: 1.17-2.04, P = .002). Subgroup analysis suggested a similar elevated risk in both Asians and Caucasians. We identified a strong association of enhanced susceptibility to endometrial cancer in endometrioid group (OR: 2.13, 95% CI: 1.28–3.54, P = .004) and Type I group (OR: 1.89, 95% CI: 1.25–2.86, P = .002) under dominant model. We identified no significant publication bias according to Egger's test.

Conclusions:
Our meta-analysis suggested that MDM2 SNP309 polymorphism increased the risk of endometrial cancer significantly, especially in endometrioid and Type I endometrial cancer, indicating MDM2 could serve as a potential diagnostic factor marker for endometrial cancer.
General hyperpigmentation induced by Grave's disease
Authors: Song Xiaoxiao , Shen Yimin , Zhou Ying , Lou Qinhua , Han Li , Ho Jon Kee , Ren Yuezhong 
Published: December 2018

Abstract

Rationale:
Hyperpigmentation is a common skin disease. However, there are few reported cases of Grave's disease with diffuse hyperpigmentation. We hereby described a rare case with diffuse hyperpigmentation induced by Grave's disease.

Patient concerns:
A 42-year-old Chinese woman with accumulated general pigmentation of skin was admitted to our hospital in October 2017. On examination, hyperpigmentation was observed throughout the whole body, especially on the extremities and the face.

Diagnoses:
The patient has elevated levels of serum free thyroxine (FT4), free triiodothyronine (FT3), reduced levels of thyroid-stimulating hormone (TSH) and positive anti-TSH receptor antibody (TRAb). She presented with grade I goiter and a diffusely increased thyroid uptake to 18.5% in thyroid scan. Histopathological examination demonstrated melanin pigmentation in the pigmented skin area. The patient was diagnosed with hyperpigmentation induced by Grave's disease.

Interventions:
The patient was treated with oral methimazole (15 mg/day) for thyroid dysfunction and beta blocker for symptom control.

Outcomes:
After a period of treatment with methimazole and beta blocker, symptoms of hyperthyroidism ameliorated and hyperpigmentation abated.

Lessons:
Our studies proposed that in this case the diffuse hyperpigmentation in Grave's disease was caused by elevated adrenocorticotropic hormone (ACTH) as well as anti- TSH receptor stimulating antibody instead of enhanced capillary fragility. Other potential mechanisms for skin pigmentation in hyperthyroidism still need further exploration.
Radiculoplasty with reconstruction using 3D-printed artificial dura mater for the treatment of symptomatic sacral canal cysts
Authors: Liu Bin , Wang Zhenyu , Lin Guozhong , Zhang Jia 
Published: December 2018

Abstract

Rationale:
Currently, interventional injection of albumin glue and nerve sleeve plasty by cyst excision is the main treatment for sacral cysts. However, albumin glue can only be used in patients with partial cystic neck stenosis, and surgical treatment may result in postoperative complications such as numbness and cyst recurrence. Here, a modified radiculoplasty is presented, in which the lamina is restored with the nerve root wrapped with 3-dimensional (3D)-printed artificial dura mater.

Patient concerns:
The first patient, a 28-year-old man, had been complaining of aggravated perineal pain for 8 months a visual analog scale (VAS) score of 7. Sacrococcygeal magnetic resonance imaging (MRI) revealed multiple sacral canal cysts. The second case, a 48-year-old woman, has been complaining of lumbosacral and left leg pain for 1 month (VAS score of 7). Physical examination showed hyperalgesia below the right sacrum 2 level. Sacrococcygeal MRI and computed tomography (CT) revealed multiple sacral canal cysts and a calcified lesion in the cyst.

Diagnoses and Intervention:
The first patient underwent radiculoplasty with reconstruction using 3D-printed artificial dura mater, with 3 cysts treated and the lamina restored. Four cysts of the second patients were treated, including 1 bone-occupying lesion. Radiculoplasty with reconstruction using 3D-printed artificial dura mater was used for the cysts and the lamina was restored

Outcomes:
The postoperative VAS score was 0 to 2 points in the 2 patients. No postoperative infection or new neurological dysfunction was observed. Postoperative MRI showed no cysts, with lamina restoration. After 6 months, the VAS score was 0, and MRI showed no recurrence.

Lessons:
Radiculoplasty with reconstruction using 3D-printed artificial dura mater and lamina restoration could be beneficial for the treatment of symptomatic sacral canal cysts.
The diagnostic accuracy of contrast-enhanced ultrasound for the differentiation of benign and malignant thyroid nodules
Authors: Liu Qinghua , Cheng Jian , Li Jingjing , Gao Xiang , Li Hongbo 
Published: December 2018

Abstract

Background:
Contrast-enhanced ultrasound (CEUS) is a non-invasive method that has been used in the diagnosis of several diseases. Recently, CEUS has been used in the differentiation of benign and malignant thyroid nodules. However, the performance of CEUS in thyroid nodules has not been studied clearly.

Methods:
The databases of Pubmed, Embase, Cochrane library and the unpublished studies were systematically searched for candidate inclusions, with the use of CEUS in differentiating the benign and malignant thyroid nodules. The quality of included studies was assessed using Quality Assessment of Diagnostic Accuracy Studies (QUADAS) questionnaire. The pooled estimates of sensitivity, specificity, diagnostic odds ratio (DOR), positive and negative likelihood ratio (NLR) were calculated using STATA software version 14.0.

Results:
Totally 33 diagnostic studies were included for further analysis. The quality of included studies was relatively high using QUADAS method. The pooled estimates of sensitivity and specificity were 0.88 (95% CI 0.85, 0.91) and 0.88 (95% CI 0.83, 0.91), respectively. In addition, the DOR, the positive and NLRs were pooled positive LR and the negative LR were 54 (95% CI 33, 89), 7.1% (5.2%, 9.8%), and 0.13% (0.10%, 0.18%). No significant publication bias was observed.

Conclusions:
Our meta-analysis further indicated that CEUS is a useful tool in differentiating benign and malignant thyroid nodules, with high sensitivity and specificity.
Definition of a safe zone for screw fixation of posterior talar process fracture by 3-dimensional technology
Authors: Mao Haijiao , Wang Haiqing , Wang Linger , Yao Liwei 
Published: December 2018

Abstract

Background:
Percutaneous screw fixation can provide stable fixation with a minimally invasive surgical technique for posterior talar process fracture.

Objectives:
The purpose of this study was to investigate the optimal posterior screw placement and the geometry of safe zone for screw insertion in the posterior talar process by analyzing with 3-dimensional (3D) technology.

Methods:
100 adult feet computed tomography (CT) scans were evaluated. CT data were imported into Materiaise's interactive medical image control system (MIMICS) 18.01 software for 3-dimensional reconstruction. Two 3.0mm-diameter screws were simulated from the posterior to anterior position for posterior talar process. The morphology parameters of posterior talar process were also quantitatively measured. The safe zone and the length and entry point of screw were defined.

Results:
The optimal entry point of screw for posterior talar process fracture was lateral tubercle from the posterior to anterior position. The safe zone of medial tubercle entry point was smaller in lateral tubercle. These gender-specific measurements were all significant (P <.001).

Conclusions:
The predefined zone with computer-assisted 3D techniques for the most frequently positioned percutaneous screws may aid in preoperative planning, shorten the operation time and reduce the incidence of surgical complications.