bluuebunny/crossref_metadata_2025_split huggingface dataset:
A Chinese family of autosomal recessive polycystic kidney disease identified by whole exome sequencing
Authors: Zhang Jun , Dai Li-meng , Li Fu-rong , Zhang Bo , Zhao Jing-hong , Cheng Jin-bo 
Published: May 2020

Abstract

Background:
Autosomal recessive polycystic kidney disease (ARPKD) is an autosomal recessive hepatorenal fibrocystic syndrome. The majority of ARPKD patients progress to end-stage renal disease. Precise molecular diagnosis of ARPKD has proven valuable for understanding its mechanism and selecting optimal therapy.

Methods:
A Chinese family with ARPKD was recruited in current study. The clinical characteristics of ARPKD patient were collected from medical records and the potential responsible genes were studied by the whole exome sequencing (WES). Candidate pathogenic variants were validated by Sanger sequencing.

Results:
Both renal manifestation and hepatobiliary phenotype were observed. WES revealed compound heterozygous mutations of polycystic kidney and hepatic disease 1 genes, NM_138694: c.751G>T, (p.Asp251Tyr) and c.3998_4004delACCTGAA (p.Asn1333Thr fs × 13), which were confirmed by Sanger sequencing. Moreover, the mutations in the proband and its affected sib were co-segregated with the phenotype.

Conclusions:
The novel mutation in polycystic kidney and hepatic disease 1 gene identified by WES might be molecular pathogenic basis of this disorder.
The 95% effective dose of nalbuphine in patient-controlled intravenous analgesia for patients undergoing laparoscopic total hysterectomy compared to equivalent sufentanil: Retraction
Authors: Sun Zhentao , Zhu Zefei , Yang Guanyu , Zheng Hongyu 
Published: May 2020

Abstract

Purpose:
To evaluate the 95% effective dose of nalbuphine in patient-controlled intravenous analgesia (PCIA) by the sequential method and compare the analgesia efficacy with the equivalent dose of sufentanil on patients undergoing laparoscopic total hysterectomy.

Methods:
In the first part, we defined a successful analgesia as the highest VAS ≤3 in 24 hours postoperatively. On the contrary, a failed analgesia was the highest VAS>3. According to the last patient's outcome, the next patients would be given an increase or decreased dose grade. This process ended up with 9 cross-over points. In the second part, 60 patients undergoing laparoscopic total hysterectomy were selected. They were randomly divided into 2 groups (n = 30 each group): receiving sufentanil 1.78 μg/kg (group S) and nalbuphine 1.78 mg/kg (group N). PCIA pump was given at the end of the operation with 5 mL bonus loading. The total amount of PCIA was 100 mL and programmed to deliver 0.5 mL each time with a lockout interval of 15 minutes and the background infusion amount of 2 mL/h. The VAS score and Ramsay score of were collected after the operation, the number of effective pressing times of PCIA were also recorded. Adverse reactions were documented in detail.

Results:
The 95% effective dose of nalbuphine in PCIA on patients undergoing laparoscopic total hysterectomy was 1.78 mg/kg. There was no significant difference in VAS between the sufentanil group and the nalbuphine groups (P > .05), but the number of the use of PCIA in the group S was more than that in the group N obviously (P <.05). The group S has a lower ramsay sedation score than group N at every time point. (P <.05). The incidence of nausea and vomiting was not statistically significant differences between two groups in the first 24 hours after colonoscopy (P >  q .05).

Conclusion:
Nalbuphine 1.78 mg/kg in PCIA is recommended for the patients undergoing laparoscopic total hysterectomy. And nalbuphine is a reasonable alternative to sufentanil when used in PCIA.
Dialysate glucose response phenotypes during peritoneal equilibration test and their association with cardiovascular death
Authors: Wang Zheng , Yu Dahai , Cai Yamei , Ma Shuang , Zhao Bin , Zhao Zhanzheng , Simmons David 
Published: May 2020

Abstract
Different measures of rates of transfer of glucose during the peritoneal equilibrium test (PET), undertaken during peritoneal dialysis (PD) might provide additional information regarding a patient's risk of future cardiovascular mortality. This study aimed to characterize the heterogeneity of dialysate glucose (DG) response phenotypes during the PET and compare the cardiovascular mortality rates associated with the different phenotypes. Our cohort was derived from Henan peritoneal dialysis registry. A total of 3477 patients initiating PD in 2007 to 2014 had the DG measured at 0, 2-hour and 4-hour (D0, D2, and D4 respectively) during the PET for estimation of D2/D0 and D4/D0. Deaths mainly due to CVD within 2 years since the initiation of PD were defined as the outcome. Latent class mixed-effect models were fitted to identify distinct phenotypes of the DG response during the PET. Multivariable unconditional Logistic regression models with adjustment for cardiometabolic risk factors were used to compare the 2-year risk of cardiovascular mortality among patients in the different latent classes. Three distinct DG response phenotypes during the PET were identified. Those with consistently high D2/D0 and D4/D0 ratios had a 1.22 [95% confidence interval: 1.02, 1.35] excess risk of a cardiovascular death within 2 years of commencing PD compared with patients with the lowest D2/D0 ratio and decreased D4/D0 ratio after adjustment for cardiometabolic risk factors. Consistently elevated D2/D0 and D4/D0 ratios during the PET are associated with an increased risk of 2-year cardiovascular mortality independent of other cardiometabolic risk factors. In view of the potential bias due to unmeasured confounders (eg, Family history of cardiovascular diseases, and dietary patterns), this association should be further validated in other external cohorts.
Therapies for diabetic gastroparesis
Authors: Wang Shengju , Wang Ruili , Zhang Yanli , Zhang Xu , Cai Baochao , Lu Yan , Xia Yuguo , Chen Qiu 
Published: May 2020

Abstract

Background:
Diabetic gastroparesis (DG) is a common autonomic neuropathy which impacts on nutritional state and quality of life in diabetic patients, and it also adversely affects glycemic control in diabetes. The prevalence of DG is growing with the number of patients with diabetes continues to increase. However, there is no definitive answer as to which of the current therapies is the best for the clinical treatment of the different manifestations of DG. The subject of this study is to answer the following question: what is the best intervention for diabetic patients with gastroparesis?

Methods:
Comprehensive searches of the Cochrane Library, PubMed, Embase, Medline, Central and Web of Science, and 4 Chinese databases, including China National Knowledge Infrastructure, VIP Database for Chinese Technical Periodicals, Chinese Biomedical Literature Database, and WanFang will be completed using the following keywords DG and therapies and related entry terms. Studies will be included, according to the eligibility criteria (randomized controlled trials and controlled clinical trials, considering specific outcome measures for DG). The reference lists of included studies will be manual searched. Relevant data will be extracted from included studies using a specially designed data extraction sheet. Risk of bias of the included studies will be assessed, and the overall strength of the evidence will be summarized through GRADE. A random effects model will be used for all pairwise meta-analyses (with a 95% confidence interval). A Bayesian network meta-analysis will explore the relative benefits between the various therapies. The review will be reported using the Preferred Reporting Items for Systematic Reviews incorporating Network Meta-Analyses statement. Network meta-analysis will be performed using a Bayesian framework through the Winbugs software.

Results:
This network meta-analysis will identify the best effective therapy for DG.

Conclusion:
This study will compare and evaluate current therapies for DG, and find the best treatment of DG.
A rare case of inflammation after total hip arthroplasty due to a malpositioned prosthesis
Authors: Wang Jun , Zhang Miao , Xu Yun , Li XiaoJing , Wang CongCong , Gao XiaoPeng , Xu Meng , Li XiaoPeng , Li Wei , Wang Jun , Zhang YiMin , Wang GuoWei , Cao XueJun 
Published: May 2020

Abstract

Rationale:
Although prosthetic loosening caused by poor prosthesis positioning is common after total hip arthroplasty (THA), an inflammation caused by poor prosthesis positioning is rare. We report a case in which a THA-related inflammation was indeed caused by poor prosthesis positioning.

Patient concerns:
A 64-year-old woman was admitted to our hospital with a history of persistent hip pain that had started after she had undergone THA 4 years previously. In addition, she complained of swelling of the hip that had begun 2 months ago.

Diagnosis:
Her pain and swelling was initially thought to be caused by an infection, but was eventually diagnosed as inflammation caused by prosthesis loosening, that was in line with finding that her preoperative and intraoperative cultures showed no bacterial or fungal growth. This case posed many questions and difficulties during the diagnostic and treatment stages.

Interventions:
Routine diagnosis of periprosthetic suspected infection includes blood test, erythrocyte sedimentation rate, C-reactive protein level, bacterial and fungal cultures, and pathology examinations, which were performed. Finally, this case was eventually diagnosed as inflammation, the prosthesis was removed and antibiotics administered. It was replaced 6 months later.

Outcomes:
Except for the erythrocyte sedimentation rate and C-reactive protein levels, X rays, routine blood tests, bacterial and fungal cultures (3 times), and other tests were within the normal range. Positive pathological examinations of synovium during and after the operation indicated chronic inflammation and eliminated inflammation in other areas. Postoperative effect of the second-stage THA was good, with the patient highly satisfied after 6 months.

Lessons:
The operative method and position of a joint prosthesis are extremely important. A poorly positioned prosthesis worsens with wear. Wear particles then lead to long-term localized aseptic inflammation with swelling and fever and eventually to low-virulence infection. Prosthetic loosening may be found even at long-term follow-up evaluations after THA in patients with a poorly positioned prosthesis, eventually leading to the need for revision. We had 2 questions: should early revision be considered when a prosthesis had not been properly positioned? In the absence of any confirmation of infection, should a patient suspected of having a periprosthetic infection be treated as early as possible?
True hermaphroditism with dysgerminoma
Authors: Chen Chun-Qiao , Liu Zheng , Lu Yu-Song , Pan Min , Huang Hui 
Published: May 2020

Abstract

Introduction:
True hermaphroditism is a rare and usually sporadic disorder. It is defined by the presence of both ovarian and testicular tissues together as ovotestis.

Patient concerns:
In this study, we reported a rare true hermaphroditism case with dysgerminoma. A 49-year-old woman developed masses in both inguinal regions for 30 years. Recently 3 months, the patient found that the size of mass in her left inguinal region was significantly increased.

Diagnosis:
After surgical resection, the results of immunohistochemical examination in left mass revealed a dysgerminoma with positive expression of placental alkaline phosphatase and octamer-binding transcription factor 3/4, and right mass was a cryptorchidism. Chromosomal analysis revealed the karyotype 46, XY. Combined immunohistochemical and karyotype analysis, a diagnosis of true hermaphroditism with dysgerminoma was made.

Interventions:
Radiotherapy combined with chemotherapy after tumor resection was used to improve her prognosis. Hormone replacement therapy with conjugated estrogen and medroxyprogesterone acetate were used to maintain her female characteristics.

Outcomes:
The patient underwent hormonal replacement and has been well for 6 months.

Conclusion:
The positive expression of placental alkaline phosphatase and octamer-binding transcription factor 3/4 could be 2 diagnosis markers of dysgerminoma. Surgery combined with radiotherapy and chemotherapy could improve the prognosis of dysgerminoma. Moreover, hormone replacement therapy with conjugated estrogen and medroxyprogesterone acetate was very helpful to maintain the female characteristic of patients with true hermaphroditism.
Plasma protein patterns are strongly correlated with pressure pain thresholds in women with chronic widespread pain and in healthy controls—an exploratory case-control study
Authors: Gerdle Björn , Wåhlén Karin , Ghafouri Bijar 
Published: May 2020

Abstract
Chronic widespread pain (CWP) is a complex pain condition characterized by generalized musculoskeletal pain and often associated with other symptoms. An important clinical feature is widespread increased pain sensitivity such as lowered pain thresholds for mechanical stimuli (pressure pain thresholds [PPT]). There is a growing interest in investigating the activated neurobiological mechanisms in CWP, which includes fibromyalgia. In CWP, strong significant correlations have been found between muscle protein patterns and PPT. This explorative proteomic study investigates the multivariate correlation pattern between plasma proteins and PPT in CWP and in healthy controls (CON). In addition, this study analyses whether the important proteins for PPT differ between the 2 groups.
Using 2-dimensional gel electrophoresis, we analyzed the plasma proteome of the CWP (n = 15) and the CON (n = 23) and proteins were identified using mass spectrometry. For both the CWP and the CON, the associations between the identified proteins and PPT were analyzed using orthogonal partial least square in 2 steps.
Significant associations between certain plasma proteins and PPT existed both in CWP (R
2 = 0.95; P = .006) and in CON (R
2 = 0.89; P < .001). For both groups of subjects, we found several proteins involved in PPT that reflect different biological processes. The plasma proteins as well as the biological processes involved in PPT differed markedly between the 2 groups of subjects.
This study suggests that plasma protein patterns are associated with pain thresholds in CWP. Using the plasma proteome profile of CWP to study potential biomarker candidates could provide a snapshot of ongoing systemic mechanisms in CWP.
Nasopharyngeal carcinoma perfusion MRI
Authors: Xiao Bohan , Wang Peiguo , Zhao Yingru , Liu Ying , Ye Zhaoxiang 
Published: May 2020

Abstract
To investigate the feasibility of 3D arterial spin labeling (ASL) as an alternative to dynamic contrast-enhanced (DCE) magnetic resonance imaging (MRI) for the qualitative and quantitative evaluation of nasopharyngeal carcinoma (NPC) perfusion.
Fifty-two newly diagnosed NPC patients underwent 3D ASL and DCE-MRI scans on a 3.0-T MRI system. The visual qualitative evaluation of the NPC perfusion level was scored from 0 to 3 (0 = no contrast to normal peripheral soft tissue, 3 = pronounced contrast to normal peripheral soft tissue). The visual evaluation of the NPC outline was scored from 0 to 2 (0 = very vague outline, 2 = clear outline). Comparisons of the ASL-derived blood flow (BF) with the DCE-MRI-derived positive enhancement integral, maximum slope of increase, maximum slope of decrease, and time to peak (TTP) were conducted between NPC and non-NPC areas with independent samples t-tests. The diagnostic performance of these parameters was assessed by receiver operating characteristic curve analysis. The correlations between ASL BF and DCE parameters were assessed by Spearman correlation analysis.
There was no difference in the visual scores of the NPC perfusion level between the 2 perfusion methods (P= .963). ASL had a lower visual score for describing the outline of NPC than DCE-MRI (P < .001). The ASL and DCE parameters of the NPC areas were significantly different from those of the non-NPC areas (P < .001). The ASL BF showed the largest area under the receiver operating characteristic curve (AUC) of 0.936 for identifying NPC. When all NPC and non-NPC areas were taken into account, significant correlations were observed between the ASL BF and the DCE parameters positive enhancement integral (r = 0.503, P < .001), maximum slope of increase (r = 0.616, P < .001), maximum slope of decrease (r = 0.380, P < .001), and TTP (r = -0.601, P < .001).
3D ASL could reveal the hyperperfusion of NPC in a qualitative and quantitative manner without using contrast agent. Additionally, the ASL BF correlated significantly with the semiquantitative DCE-MRI parameters.
Factors associated with fat stranding on computed tomography in acute appendicitis
Authors: Lin Hui-An , Lin Sheng-Feng 
Published: May 2020

Abstract
To determine which factor is associated with presence of fat stranding sign for acute appendicitis on computed tomography (CT).
This study reviewed the CT imaging of adults with proven acute appendicitis at a single center from January 1, 2015 to December 31, 2019. Logistic regression models were used to investigate the association between clinical characteristics and fat stranding sign. Receiver operating characteristic (ROC) curve analysis was used to determine the cutoff value that helped predict the presence of fat stranding on CT.
In total, 413 patients were included. Age of ≥40 years (OR: 3.10; 95% CI, 2.02–4.74; P < .0001), body mass index of ≥23 kg/m2 (OR: 2.86; 1.89–4.34; P < .0001), white blood cell count of ≥10,000/μl (OR: 1.77; 1.05–2.99; P = .0316), and C-reactive protein level of ≥2.4 mg/dl (OR: 3.17; 1.97–5.08; P < .0001) were significant factors predicting fat stranding on CT. The ROC analysis with above 4 factors showed an area under the curve of 0.76 (0.71–0.80).
Body habitus, advanced age, and elevated inflammatory marker levels were independent in predicting fat stranding for patients with acute appendicitis.
Effect of intravitreal ceftazidime injection on endogenous klebsiella pneumoniae endophthalmitis, a single center case series
Authors: Sim Ha Eun , Kang Min-Ji , Kim Jae-Suk , Park Jae Yong , Hwang Je-Hyung 
Published: May 2020

Abstract
To report long-term outcomes of intravitreal ceftazidime injection in patients with endogenous Klebsiella pneumoniae endophthalmitis (EKPE).
This was a retrospective observational case study, including 7 eyes from 6 patients with EKPE. The medical records from January 2010 to December 2018 were reviewed.
Diagnosis of EKPE was made based on the finding of endophthalmitis with concurrent systemic infection and positive blood culture result. All patients received tap and intravitreal ceftazidime injection base on the results of antibiotics sensitivity test. Visual acuity ranged from no light perception to 20/60 at initial visit, and the final visual acuity was 20/20. Two eyes underwent evisceration after intravitreal injection.
Intravitreal ceftazidime injection showed favorable results in patients with EKPE.
Efficacy and safety of local infiltration analgesia for pain management in total knee and hip arthroplasty
Authors: Peng Xiao-Qiang , Fei Zheng-Guo , Sun Chun-Guang , Zhou Qi-Jia 
Published: May 2020

Abstract

Background:
Local infiltration analgesia (LIA) has become popular in postoperative pain relief after total hip arthroplasty (THA) or total knee arthroplasty (TKA). The aim of this meta-analysis was to compare the efficacy and safety of LIA with intrathecal morphine and epidural analgesia after THA and TKA.

Methods:
A systematic article search was performed from PubMed, Embase, and Web of Science databases, up to February 21, 2019. The main outcomes included visual analog scale for assessment of pain, morphine equivalent consumption, length of hospital stay, and adverse events. The data were calculated using weight mean difference (WMD) or risk ratio (RR) with 95% confidence intervals (95% CIs).

Results:
Eleven studies with a total of 707 patients met the inclusion criteria and were included in this meta-analysis. LIA provided better pain control than other 2 techniques at 24-hour (WMD = 10.61, 95% CI: 3.36–17.87; P = .004), 48-hour (WMD = 16.0, 95% CI: 8.87–23.13; P < .001), and 72-hour (WMD = 11.31, 95% CI: 3.78–18.83; P < .001). Moreover, LIA had similar morphine consumption and duration of hospital stay with intrathecal morphine and epidural analgesia. There was significantly lower incidence of adverse events with LIA than with the other 2 techniques.

Conclusion:
LIA provided better postoperative pain control and less adverse events than intrathecal morphine and epidural analgesia after THA and TKA.
How to Reduce Cardiovascular Risk in Nonalcoholic Fatty Liver Disease
Authors: Ismaiel Abdulrahman , Dumitrascu Dan L. 
Published: May 2020

Background:
Nonalcoholic fatty liver disease (NAFLD) is a rapidly growing multisystem disease with extrahepatic manifestations, including effects on the cardiovascular (CV) system. The leading cause of death in NAFLD is of cardiac etiology being ischemic heart disease.

Areas of Uncertainty:
NAFLD is associated with several CV complications including cardiac structural and functional alterations. However, there are no current approved pharmacotherapies for treating NAFLD, leading to increased CV risk with an increasing morbidity and mortality.

Data Sources:
We summarize the currently available therapeutic strategies in managing NAFLD and their cardioprotective effects according to recently published data, guidelines, and practice guidance recommendations.

Therapeutic Advances:
Several therapeutic modalities evaluated in NAFLD include nonpharmacological strategies, pharmacotherapies and surgical management. Nonpharmacological strategies are recommended in early stages of NAFLD and include weight loss, physical activity, and dietary changes. Personalized management strategies with nonpharmacological lifestyle modifications are associated with reduced CV risk, improved liver enzyme levels, in addition to liver fat content, injury, and fibrosis. Several pharmacotherapies including lipid-lowering agents and antidiabetic drugs such as insulin sensitizers and incretin mimetics, in addition to antioxidants, ursodeoxycholic acid, semi-synthetic bile acid analogue, acetylsalicylic acid, and renin–angiotensin system inhibitors have been evaluated in the current literature. Despite promising results of several drugs in NAFLD with cardioprotective effects, we currently remain with no approved medical drugs for treating NAFLD. Although bariatric surgery was demonstrated to be associated with CV risk reduction and improvements in hepatic steatosis, inflammation, and fibrosis, it remains of limited use because of its invasiveness.

Conclusions:
Management of NAFLD necessitates a multidisciplinary team with a patient-centered and individualized medicine approach. Early lifestyle modifications are essential in NAFLD to reduce CV risk. Experimental studies are required to confirm hepatic and cardioprotective effects associated with several drugs. Bariatric surgery remains of limited use.