bluuebunny/crossref_metadata_2025_split huggingface dataset:
A case report on filamin A gene mutation and progressive pulmonary disease in an infant
Authors: Calcaterra Valeria , Avanzini Maria Antonietta , Mantelli Melissa , Agolini Emanuele , Croce Stefania , De Silvestri Annalisa , Re Giuseppe , Collura Mirella , Maltese Alice , Novelli Antonio , Pelizzo Gloria 
Published: December 2018

Abstract

Rationale:
Mesenchymal stem cells (MSC) play a crucial role in both the maintenance of pulmonary integrity and the pathogenesis of lung disease. Lung involvement has been reported in patients with the filamin A (FLNA) gene mutation. Considering FLNA's role in the intrinsic mechanical properties of MSC, we characterized MSCs isolated from FLNA-defective lung tissue, in order to define their pathogenetic role in pulmonary damage.

Patient concerns:
A male infant developed significant lung disease resulting in emphysematous lesions and perivascular and interstitial fibrosis. He also exhibited general muscular hypotonia, bilateral inguinal hernia, and deformities of the lower limbs (pes tortus congenitalis and hip dysplasia). Following lobar resection, chronic respiratory failure occurred.

Diagnosis:
Genetic testing was performed during the course of his clinical care and revealed a new pathogenic variant of the FLNA gene c.7391_7403del; (p.Val2464AlafsTer5). Brain magnetic resonance imaging revealed periventricular nodular heterotopia.

Interventions and outcomes:
Surgical thoracoscopic lung biopsy was performed in order to obtain additional data on the pathological pulmonary features. A small portion of the pulmonary tissue was used for MSC expansion. Morphology, immunophenotype, differentiation capacity, and proliferative growth were evaluated. Bone marrow-derived mesenchymal stem cells (BM-MSC) were employed as a control. MSCs presented the typical MSC morphology and phenotype while exhibiting higher proliferative capacity (P <.001) and lower migration potential (P=.02) compared to control BM-MSC.

Lessons:
The genetic profile and altered features of the MSCs isolated from FLNA-related pediatric lung tissue could be directly related to defects in cell migration during embryonic lung development and pulmonary damage described in FLNA-defective patients.
Effect of adjuvant hormone therapy in patients with prostate cancer
Authors: Liu Feng , Sun Daju , Zhou Xueying , Ding Youpeng , Ma Yanan , Hou Yi , Kong Xiangbo , Wang Zhixin 
Published: December 2018

Abstract

Objectives:
To summarize the evidence regarding the treatment effect of adjuvant hormone therapy (AHT) in patients with prostate cancer (PCa). AHT following radiotherapy, chemotherapy, or surgery is widely used in patients with PCa. However, the treatment effect is inconsistent in individual trials.

Methods:
The electronic databases including PubMed, EmBase, and Cochrane Library were searched to identify randomized controlled trials (RCTs) in September 2016. RCTs that evaluated the effects of AHT in patients with PCa were included. Hazard ratio (HR) and relative risks (RR) were used to measure the treatment effects of AHT using a random effects model. The analyses were further stratified by factors that could affect the treatment efficacy.

Results:
A total of 14,594 potential studies were identified, and 27 RCTs were included. Compared with the control group, patients who received AHT were associated with a significant improvement in overall survival (OS) (HR: 0.78; 95% confidence interval [CI]: 0.71–0.85; P <.001), disease-free survival (DFS) (HR: 0.50; 95% CI: 0.39–0.65; P <.001), total mortality (RR: 0.90; 95% CI: 0.85–0.96; P = .001), recurrence (RR: 0.70; 95% CI: 0.60–0.81; P <.001), and disease-specific mortality (RR: 0.70; 95% CI: 0.56–0.87; P <.001). However, no significant difference was observed between AHT and control for response rate (RR: 1.75; 95% CI: 0.91–3.37; P = .095).

Conclusions:
The findings of this meta-analysis confirmed that patients who received AHT had a significant improvement in OS, DFS, total mortality, recurrence, and disease-specific mortality. Further, large-scale RCTs are required to evaluate the treatment effect in specific subpopulations.
Tissue preservation through socket-shield technique and platelet-rich fibrin in immediate implant placement
Authors: Guo Tianqi , Nie Ran , Xin Xirui , Wang Hanchi , Qi Manlin , Yu Kaixuan , Wang Yao , Du Liuyi , Zhou Yanmin 
Published: December 2018

Abstract

Rationale:
In this report, a combination of socket-shield technique (SST) and platelet-rich fibrin (PRF) technique was used for immediate implant placement on a fractured central incisor. During the follow-up visit, cone beam computed tomography (CBCT) and clinical observation were used to evaluate the preservation outcome of peri-implant bone and gingiva.

Patient concerns:
The patient was a 28-year-old healthy female patient who desired her fractured 21 to be replaced with an implant-supported single crown; the fractured 21 comprised a post-core crown with insufficient residual bone at the labial site.

Diagnosis:
The root of 21 exhibited a complex root fracture; the labial portion of the alveolar ridge was thin (<1 mm) and partial ankylosis of the residual root was observed.

Interventions:
Modified SST was applied to the labial portion of the residual root. The implant was placed immediately at the lingual site of the retained socket-shield root fragment; PRF was the placed in the gap between the root fragment and the implant. Final prosthodontic treatment was performed at 24 weeks after implant placement.

Outcomes:
Clinical examination and CBCT scanning at various follow-up visits time showed that the periodontal tissue was well- preserved. At 6 months after surgery, the average horizontal and vertical peri-implant bone resorption was 0.4 mm; a follow-up visit at 18 months post-loading indicated that peri-implant tissue was well preserved by the shield-technique and no significant peri-implant tissue resorption was displayed.

Lesson Subsections:
In cases of anterior teeth with intact but insufficient residual alveolar ridge, the SST with PRF may be effective for preservation and maintenance of stable peri-implant tissue.
Association between MEFV polymorphisms and the susceptibility to ankylosing spondylitis in a Chinese Han population
Authors: Song Jingtao , Zhao Lei , Jiao Jiaxun , Wei Wei 
Published: December 2018

Abstract
The aim of this study was to explore the genetic association of Mediterranean fever (MEFV) gene polymorphisms rs3743930 and rs11466023 with ankylosing spondylitis (AS) susceptibility in a cohort of Chinese Han population.
Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used for genotyping MEFV polymorphisms in 131 AS patients and 127 healthy controls. Chi-square test was employed to compare the genotype and allele distributions between the case and control groups. Odds ratio (OR) with 95% confidence interval (CI) was calculated to assess the association between MEFV gene polymorphisms and AS incidence.
The frequency of the G allele of MEFV polymorphism rs3743930 in the AS group was significantly higher than that in the healthy control group (36.64% vs 28.35%, P < .05). And individuals carrying the GG genotype showed 2.896 folds higher risk of developing AS when compared with CC genotype carriers (OR = 2.896, 95% CI = 1.115–7.519). But no significant differences were detected in either genotype or allele distributions between case and control groups for the polymorphism rs11466023 (P > .05).

MEFV gene polymorphism rs3743930 might be significantly associated with AS susceptibility in Chinese Han population, and its G allele might predict high risk of AS.
Incomplete Kawasaki disease in the 2-month-old infant
Authors: Ma Wei , Sun Juan , Wang Huaili 
Published: December 2018

Abstract

Rationale:
The diagnosis of Kawasaki disease (KD) is difficult and is often delayed for children whose age falls outside the typical age range of 6 months to 5 years, especially for those with incomplete KD (IKD) or atypical features.

Patient concerns:
A 2-month-20-day-old girl presented to our hospital with a chief complaint of intermittent fever for 1 day and 1 episode of seizure, with poor feeding and swelling of feet.

Diagnosis:
Until the appearance of red cracked lips, a diagnosis of IKD was considered. A rise in periungual desquamation of the hands confirmed the diagnosis.

Interventions:
Intravenous immunoglobulins were administered and aspirin and dipyridamole were used orally.

Outcome:
The temperature, C-reactive protein, and erythrocyte sedimentation rate returned to normal level and there was no coronary artery lesion.

Lessons:
This case highlights that the diagnosis of IKD should be considered in children whose primary presentation is fever and neurologic features, lacking principal clinical findings, particularly those <6 months of age.
Hemobilia caused by pancreatic arteriovenous malformation
Authors: Liu Xiaolei , Huang Jia , Tan Haidong , Yang Zhiying 
Published: December 2018

Abstract

Rationale:
Hemobilia caused by arteriovenous malformation is extremely rare but could be lethal. To date, most reports have been single-case reports, and no literature reviews are available.

Patient concerns:
A 47-year-old man presented to the emergency department with abdominal pain and fever. He complained of abdominal pain and weight loss for the past 2 months.

Diagnoses:
Contrast-enhanced computed tomography and magnetic resonance imaging showed a heterogenous lesion located in pancreatic head and tumor was suspected.

Interventions:
Endoscopic retrograde cholangiopancreatography was performed and bleeding from papilla of Vater could be viewed. Nasobiliary drainage was placed to alleviate the pain and jaundice. Emergency laparotomy was performed due to the recurrence of severe pain and bleeding, and pancreatoduodenectomy was then performed. Macroscopic examination showed the ulceration connected with collected vessels which were located in pancreatic head and microscopic examination confirmed the presence of arteriovenous malformation.

Outcomes:
The patient recovered uneventfully and was discharged 10 days after the surgery. He is asymptomatic on 4-month follow up.

Lessons:
Arteriovenous malformation is a rare cause of hemobilia, but it could lead to life threatening bleeding. Transarterial embolization could be effective to control the bleeding temporarily, however repeated hemorrhage may occur. Surgical resection may be a better option.
Effect of cancer characteristics and oncological outcomes associated with laparoscopic colorectal resection converted to open surgery
Authors: Wu Bo , Wang Wei , Hao Guangjie , Song Guoquan 
Published: December 2018

Abstract

Background:
Although laparoscopic colorectal cancer resection is an oncologically safe procedure equivalent to open resection,the effects of conversion of a laparoscopic approach to an open approach remain unclear.This study evaluated the cancer characteristic and oncological outcomes associated with conversion of laparoscopic colorectal resection to open surgery.

Method:
We conducted searches on PubMed, EMBASE, MEDLINE, and the Cochrane Central Register of Controlled Trials. We included the literature published until 2018 that examined the impact of laparoscopic conversion to open colorectal resection. Only randomized control trials and prospective studies were included. Each study was reviewed and the data were extracted. Fixed-effects methods were used to combine data, and 95% confidence intervals (CIs) were used to evaluate the outcomes.

Results:
Twelve studies with 5427 patients were included. Of these, 4672 patients underwent complete laparoscopic resection with no conversion (LAP group), whereas 755 underwent conversion to an open resection (CONV group). The meta-analysis showedsignificant differences between the LAP group and converted (CONV) group with respect to neoadjuvant therapy (P = .002), location of the rectal cancer (P = .01), and recurrence (P = .01). However, no difference in local recurrence (P = .17) was noted between both groups.

Conclusion:
Conversion of laparoscopic to open colorectal cancer resection is influenced by tumor characteristics. Conversion of laparoscopic surgery for colorectal cancer is associated with a worse oncological outcome.
An ectopic adrenocortical adenoma in renal hilum presenting with Cushing's syndrome
Authors: Lu Difei , Yu Nan , Ma Xiaowei , Zhang Junqing , Guo Xiaohui 
Published: December 2018

Abstract

Rationale:
Ectopic adrenal tissue is the adrenal rests along the path from gonads to adrenal glands during embryogenesis. Ectopic adrenocortical adenoma is a rare disease represented with over-production of cortisol by the ectopic adrenocortical tissue.

Patient concerns:
An 18-year-old Chinese female patient was presented with weight-gain for 6 months. She had elevated plasma cortisol and a solitary mass was revealed using computed tomography scan in the left renal hilum.

Diagnosis:
The tumor was removed and the immunohistochemical profile indicated an ectopic adrenocortical adenoma.

Interventions:
After the tumor was removed, the patient was under glucocorticoid replacement therapy in 6-month.

Outcomes:
During 6-month of follow-up, the patient showed no signs of tumor recurrence.

Lessons:
Ectopic adrenocortical adenoma is difficult to diagnose due to its low incidence, and the ectopic rests in renal hilum could be misdiagnosed as renal cell carcinoma. This case reminds clinicians to be aware of ectopic site in the diagnosis of adrenocorticotropic hormone (ACTH) independent Cushing's syndrome. Immunohistochemical stain may assist in evaluating the origin of the ectopic rests. A certain rate of local recurrence indicated the need of long-term follow-up.
CT-pathologic correlation in lung adenocarcinoma and squamous cell carcinoma
Authors: Yue Jun-Yan , Chen Jie , Zhou Feng-Mei , Hu Ying , Li Mei-Xia , Wu Qing-Wu , Han Dong-Ming 
Published: December 2018

Abstract
Distinguishing lung adenocarcinoma from squamous cell carcinoma (SCC) is clinically important. Computed tomography (CT) scan is an economical, effective, noninvasive, commonly available, and quick diagnostic way for lung cancer. In this study, we aim to compare the CT characteristics in adenocarcinoma and SCC.
Data from 275 cases (259 adenocarcinoma and 16 SCC) were retrospectively compared. CT characteristics, including lesion size and shape, single/multifocal lesions, location of the tumor, the margin of lobes, whether the lesion had deep lobulated margin, bronchial cut-off sign, signs of dilated bronchial arteries, signs of vascular bundle thickening, signs of short burrs, spinous processes, and pleural indentation, were compared in 148 cases (137 adenocarcinoma and 11 SCC).
Patients with adenocarcinoma were more likely to be female (44.2% vs 25.0%, P = .017). Compared with SCC, adenocarcinomas were more likely to have deep lobulated margin (81.0% vs 54.5%, P = .038), less likely to have smooth lobes margin (2.7% vs 83.3%, P < .001), more likely to have vascular bundle thickening (37.2% vs 0, P = .016) and pleural indentation (59.9% vs 18.2%, P = .01), and marginally less likely to have dilated bronchial arteries (17.5% vs 45.5%, P = .064). No significant difference was observed regarding to characteristics, including tumor size, location of the tumor, signs of bronchial cut-off, dilated bronchial arteries, short burrs, or spinous processes.
CT scan has the potential to help to distinguish lung adenocarcinoma and SCC in a fast and commonly available way. CT could be a rough but fast way to diagnosis, and may thus shorten the waiting time to treatment and allow more time for clinicians, patients, and their families to prepare for future treatment.
A scoring system to predict HBsAg seroclearance in hepatitis B and C coinfected patients treated with interferon and ribavirin in an Asian cohort
Authors: Yen Yi-Hao , Kee Kwong-Ming , Kuo Fang-Ying , Chang Kuo-Chin , Hu Tsung-Hui , Lu Sheng-Nan , Wang Jing-Houng , Hung Chao-Hung , Chen Chien-Hung 
Published: December 2018

Abstract
Current guidelines recommend that patients with hepatitis B virus-hepatitis C virus (HBV-HCV) coinfection be treated with direct anti-viral agents (DAAs). Compared with DAAs, pegylated interferon (PEG-IFN) and ribavirin therapy has the advantages of treating both viruses while maintaining an acceptable HCV sustained virological response (SVR) rate (70–80%) in Asian cohorts. In this study, we aimed to develop a simple scoring system to predict hepatitis B surface antigen (HBsAg) seroclearance in these patients. We enrolled 201 patients with HCV-HBV coinfection after IFN and ribavirin therapy. The study population was randomly allocated into derivation and validation sets in a 1:1 ratio. In the derivation cohort, multivariate analysis by Cox regression analysis revealed that HBsAg seroclearance was associated with age > 60 years (HR: 5.55, 95% CI: 1.68–18.37, P = .005), male gender (HR: 3.88, 95% CI: 1.18–12.80, P = .03), and qHBsAg level ≤100 IU/ml (HR: 4.87, 95% CI: 1.20–19.74, P = .03). Regression coefficients were used to build up a risk score, and the accuracy of the risk score was evaluated by using the area under the receiver operating characteristic curve (AUROC). The patients were classified into either a low-risk group or high-risk group based on the risk scores. Twenty-three (23.0%) patients in the derivation cohort and 30 (29.7%) patients in the validation cohort showed HBsAg seroclearance with an AUROC of 71.8%, sensitivity of 65.22%, and specificity of 75.32%. In the validation cohort, the 5-year HBsAg seroclearance incidence rates were 23.4% in the low-risk category and 43.8% in the high-risk category (HR = 2.21; 95% CI, 1.04–4.68, P = .04)
The risk scoring system could be used to predict HBsAg seroclearance for HCV-HBV coinfected patients treated with IFN and ribavirin.
S-1 plus cisplatin with concurrent radiotherapy for stage III non-small cell lung cancer
Authors: Qie Shuai , Li Yanhong , Shi Hong-yun , Yuan Lanhui , Zhang Xi 
Published: December 2018

Abstract

Introduction:
The present study aims to assess the efficacy and safety of S-1 plus cisplatin as concurrent chemoradiation (experimental group [EG]) compared with standard concurrent chemoradiation regimens (control group[CG]) in patients with local advanced non-small cell lung cancer.

Methods:
The Cochrane library, pubmed, and Ovid (elsevier) were retrieved. The included randomized controlled trials (RCT) were evaluated, and the statistical analysis was performed using RevMan 5.3 software. Cochrane handbook was applied to evaluate the methodological quality. Statistical significance was considered as P <.05.

Results:
There were 5 randomized control trials identified eligible for the meta-analysis. Meta-analysis of the pooled date suggested that overall survival (OS) (HR, 0.81; 95% CI, 0.58–1.13; P = .21, heterogeneity P = 1.00, I2 = 0%), progressives free survival (PFS) (HR, 0.82; 95% CI, 0.62–1.09; P = .18, heterogeneity P = .83, I2 = 0%) and 1,2,3-year OS (1-year OS: RR 1.03; 95% CI: 0.92–1.15, p = 0.59), (2-year OS: RR 1.14; 95% CI: 0.98–1.34, P = .09), (3 -year OS: RR 1.14; 95% CI: 0.90–1.44, P = .29) were not significantly different. The combination of S-1 and cisplatin had lower grade 3 or 4 leukocytopenia, neutropenia, (RR = 0.54, 95% CI: 0.38–0.75, P = .0003; RR = 0.23,95% CI: 0.14–0.36, P <.00001;, respectively). The rates of nausea, diarrhea, thrombocytopenia, pneumonitis, anorexia, anemia, febrile neutropenia were much the same in the 2 groups (RR = 1.35, 95% CI: 0.68–2.68, P = .38; RR = 1.85, 95% CI: 0.61–5.60, P = .28; RR = 1.67, 95% CI: 0.88–3.17, P = .12; RR = 1.19, 95% CI: 0.44–3.21, P = .73; RR = 1.35, 95% CI: 0.68–2.68, P = .38; RR = 0.86, 95% CI:0.55–1.34, P = .50; RR = 0.63, 95% CI:0.35–1.14, P = .13;, respectively).

Conclusions:
This meta-analysis of 5 randomized control trails demonstrates that EG results similar OS, PFS, and 1,2,3-year OS, compared with CG, with lower risk of leukocytopenia, neutropenia.
Angiosarcoma originating in the anterior mediastinum
Authors: Tan Yan-Bin , Yu Xin-Feng , Fan Jun-Qiang , Li Jin-Fan 
Published: December 2018

Abstract

Rationale:
Angiosarcomas are malignant vascular tumors, and angiosarcoma occurring in the anterior mediastinum is rare. Here we report a case of angiosarcoma that originated in the anterior mediastinum treated with surgery, followed by radiotherapy and synchronous chemotherapy.

Patient concerns:
A 56-year-old female was admitted to our hospital with chest pain for 3 days. Chest computerized tomogram (CT) examination showed a heterogeneous mass in the anterior superior mediastinum, and after injection of contrast agent, the mass showed obvious heterogeneous enhancement. Magnetic resonance imaging (MRI) with T1 weighted image (T1WI) showed isointensity and T2 weighted image (T2WI) showed heterogeneous signal intensity, the mass showed an obvious heterogeneously enhancement after intravenous administration of contrast material.

Diagnosis and interventions:
Surgical resection operation was carried out. According to its morphologic and immunohistochemic feature of tumor cells which expressing CD31, CD34, and ERG, the tumor was categorized as an angiosarcoma. After operation, the patient received radiotherapy and synchronous chemotherapy.

Outcomes:
At present, 8 months postoperatively, no signs of recurrence have been observed.

Lessons:
Although angiosarcoma in anterior mediastinum is rare, when a mass located in this area, a more careful immunohistological analysis should be performed to avoid overlooking the presence of angiosarcoma.
Unusual aspiration of coin in the lower respiratory tract
Authors: Fang Ning , Wang Zhuo , Shang Jing , Zhang Zhenyu , Wang Xin 
Published: December 2018

Abstract

Rationale:
Foreign body (FB) aspiration in adults is occasionally encountered. The aspiration and impaction of a coin in the lower respiratory tract is an unusual accident. This report presents 2 rare adult cases of FB aspiration with coin impaction in larynx and trachea, respectively.

Patient concerns:
Two patients presented to the emergency department separately. Both had a similar history of inadvertent ingestion of a 5-jiao coin that was accidentally enveloped in dumplings. The ingestion was immediately followed by violent cough.

Diagnosis:
The diagnosis of foreign body aspiration was confirmed by chest x-ray. In the first patient, chest computed tomography (CT) confirmed the shape of the coin and it was located in the laryngeal area, facing C5. In the second patient, CT revealed a metal-density FB located in the tracheal carina.

Interventions:
In the first patient, direct laryngoscopy was performed and the 5-Jiao coin was removed in a direction parallel to the vocal cords. In the second patient, rigid bronchoscopy was used to remove the coin.

Outcomes:
The postoperative period was uneventful in both the patients.

Lessons:
During FB removal, the coin should be positioned parallel to the vocal cords during its retrieval through the glottis. Due attention must be paid to avoid asphyxia due to positional changes of the coin in the trachea. Early diagnosis and intervention is the key in such cases as delay can cause catastrophic complications.