bluuebunny/crossref_metadata_2025_split huggingface dataset:
Thyroid hormone resistance and the value of genetics
Authors: Xiao Xiao , Lv Chen , Zhu Tianxiao , Chen Huiling 
Published: February 2019

Abstract

Rational:
Thyroid hormone resistance (RTH) is a rare disease that is characterised by a lowered sensitivity of the target organs to thyroid hormone. Herein, we present 3 cases of confirmed RTH, with the support of clinical lab results and/or gene sequencing at diagnosis.

Patient concerns:
The 3 included patients were found to have elevated levels of free T3 (FT3), free T4 (FT4), and non-supressed levels of thyroid stimulating hormone (TSH).

Diagnosis:
All patients were tested for thyroid antibodies, somatostatin suppression, vision and hearing at diagnosis. Electrocardiography (ECG), thyroid ultrasonography, and magnet resonance imaging (MRI) of the sellar region were also performed. Furthermore, gene sequencing was used to detect the thyroid hormone receptor beta (THRB) gene mutation.

Interventions:
Patient treatment was individualised. Patients were given levothyroxine sodium or a low dose of thyroiodin, depending on the individual symptoms.

Outcomes:
After treatment, thyroid function was stable in 2 of the teenage patients. No evidence of worsening thyrotoxicosis was observed.

Lessons:
Gene sequencing should be considered together with clinical lab results, including somatostatin suppression testing, before approaching a diagnosis of RTH.
The association between body lead levels and childhood rickets
Authors: Zhang Yong-fang , Xu Jiang-wei , Yang Yao , Huang Xueqin , Yu Xin-qiao 
Published: February 2019

Abstract
China has serious lead pollution and a high incidence of childhood rickets. High lead levels have been reported in childhood rickets, but the results were inconsistent.
To evaluate the association between body lead levels and childhood rickets.
After a systematic literature search, we identified 15 studies determining body lead levels between rickets children and healthy controls, and 4 studies focusing on the cases of different disease severity. Standard mean differences (SMD) and the corresponding 95% confidence intervals (CI) were pooled to compare the lead levels between different groups.
Sixteen case-control studies were included with a total of 5082 cases and 6054 controls. Compared with healthy controls, the body lead levels in rickets children were significantly higher (SMD (95%CI): 0.67 (0.41–0.93)), and subgroup analyses showed consistent results. The cases with moderate-to-severe disease activity also had a significantly higher lead level than mild-to-moderate cases (SMD (95%CI): 0.64 (0.31–0.97)).
This meta-analysis suggested an association between body lead levels and childhood rickets, and lead exposure might be a risk factor for rickets.
Effect of mGluR7 on proliferation of human embryonic neural stem cells
Authors: Zhang Jing , Zhao Junmei , Chen Yani , Shi Haiyan , Huang Xiaoyong , Wang Yanfeng , Wang Yu , Wei Yameng , Xue Wanjuan , Han Jiming 
Published: February 2019

Abstract
This study is to investigate the effect of metabotropic glutamate receptor 7 (mGluR7) on the proliferation of human embryonic neural stem cells (NSCs) and its molecular mechanism.
Human embryonic NSCs were isolated. The pCMV2-GV146-GFP-mGluR7 plasmid was transfected to over-express mGluR7 while mGluR7 siRNA was transfected to knockdown mGluR7. MTT assay was used to analyze cell proliferation. Flow cytometry was used to detect cell cycle and apoptosis. Protein and mRNA levels were analyzed by Western blot and RT-qPCR, respectively.
The viability of human NSCs and the diameter of neurospheres after 24 hours, 48 hours, and 72 hours of transfection significantly increased by mGluR7 overexpression whereas significantly decreased by mGluR7 knockdown. Ki-67 expression was up-regulated by mGluR7 overexpression whereas down-regulated by mGluR7 siRNA, indicating a promotive effect of mGluR7 on NSC proliferation. After mGluR7 overexpression, G1/G0 phase cell ratio dropped significantly compared with control group, while the S phase cell ratio increased. mGluR7 silencing arrested human NSCs at G1/G0 phase. After 48 hours of transfection, there was a decrease of apoptosis by mGluR7 overexpression, while mGluR7 silencing induced apoptosis of human NSCs. Additionally, overexpression of mGluR7 up-regulated the expression of p-serine/threonine kinase (AKT), cyclin D1, and cyclin-dependent kinase 2 (CDK2). The mGluR7 knockdown had opposite effects. Similarly, mGluR7 down-regulated the expression of Caspase-3/9, while the mGluR7 knockdown promoted this.
mGluR7 can promote the proliferation of human embryonic cortical NSCs in vitro. This effect may be mediated by promoting cell cycle progression, inhibiting cell apoptosis, activating the AKT signaling pathway, and inhibiting the Caspase-3/9 signaling pathway.
Novel SCN2A mutation in a family associated with juvenile-onset myoclonus
Authors: Huang Qi , Yu Lu , Ma Meigang , Qi Hengchang , Wu Yuan 
Published: February 2019

Abstract

Rationale:
The phenotypic spectrum caused by SCN2A mutations includes benign neonatal/infantile seizures, Ohtahara syndrome, infantile spasms, West syndrome, and other unclassified epileptic phenotypes. Mutations in SCN2A have been implicated in neonatal seizure cases. Here, we described a Chinese family with 2 members having juvenile-onset myoclonus and identified a novel SCN2A point mutation within this family.

Patient concerns:
The 21-year-old male proband suffered from frequent myoclonus at 11 years old with subsequent progressive ataxia. His elder maternal half-sister also experienced myoclonus. Genomic DNA of the patients was extracted from the peripheral blood cells of the proband, elder maternal half-sister, parents, and uncle of the proband. Targeted next-generation sequencing was used to screen gene mutations in the proband. The potential functional effects of mutations within SCN2A were predicted In silico analyses.

Diagnoses:
Genetic testing revealed a novel SCN2A variant, c.T4820C, which contains a highly conserved amino acid substitution within segment S5 (p.V1607A). This mutation was predicted to produce a dysfunctional Nav1.2 protein by Mutation Taster and Protein Variation Effect Analyzer (PROVEAN). Genotype–phenotype correlation showed an incomplete penetrance of p.V1607A.

Interventions:
The proband was treated by multiple antiepileptic drugs. These included carbamazepine, oxcarbazepine, valproate, and topiramate.

Outcomes:
The duration of follow up was 2 years, and the proband developed drug-resistant epilepsy.

Lessons:
The case gives us the lesson that SCN2A mutation can contribute to juvenile-onset myoclonus. Our findings extend the spectrums of SCN2A mutations and the clinical features of patients with SCN2A mutations.
Acute rib fracture caused by preoperative positioning for direct lateral interbody fusion
Authors: Hong Chang Hwa , Jung Ki Jin , Soh Jae Wan , Won Sung Hun , Hong Si John , Kim Chang Hyun , Lee Hong Seop , Wang Soon Do , Lee Won Seok , Kim Woo Jong 
Published: February 2019

Abstract

Rationale:
Degenerative spondylolisthesis is defined as forward slippage of a vertebra with respect to the underlying vertebra and is associated with the induction of lumbar canal stenosis. The use of anterior column support for degenerative lumbar conditions has been well documented. Direct lateral interbody fusion (DLIF) gains access via a lateral approach through the retroperitoneal fat and psoas muscle. It avoids many of the access-related complications yet comes with its own risks and limitations. The location of the iliac wing precludes exposure of the L5–S1 disc space and may make L4–5 surgery difficult. Therefore, accurate preoperative patient positioning is essential.

Patient concerns:
A 71-year-old female with a body mass index (BMI) of 39.2 kg/m2 (height 155.9 cm, weight 79.5 kg) presented with lumbar pain radiating to the left lower limb. She complained of neurologic claudication with more than 100 m ambulation.

Diagnosis:
Plain standing view on spine radiography revealed L4–5 spondylolisthesis and disc-space narrowing. Magnetic resonance imaging (MRI) revealed severe L4–5 bilateral foraminal stenosis. After the first surgery, simple rib cage radiography was performed to examine the source of her right-sided flank pain and it revealed acute fracture of the right ninth and tenth ribs.

Interventions:
The patient was laterally positioned on the table in an extreme bending position. The intervertebral cage was inserted in the L4–5 disc space and disc height was restored. With respect to the rib fracture, treatment was conservative.

Outcomes:
The patient's radiating pain was immediately relieved and her lower back pain disappeared at 3 months after surgery. The patient reported right-sided flank pain after the first surgery. Simple rib cage radiography was performed and revealed fracture of the right ninth and tenth ribs. Follow-up assessments conducted 2 months later revealed complete bony union.

Lessons:
DLIF avoids many access-related complications. However, it is associated with other intraoperative complications, including injury to the lumbar nerve root and plexus. In addition, there are preoperative complications associated with improper patient placement on the table. In this case, the patient's obesity and strict positional requirements resulted in rib fracture. We suggest that surgeons consider this complication and exercise care in preoperative positioning.
Atypical incomplete femoral neck fracture in patients taking long-term bisphosphonate
Authors: Suh You-Sung , Jang Byung-Woong , Nho Jae-Hwi , Won Sung-Hun , Lee Won-Seok 
Published: February 2019

Abstract

Rationale:
We present 2 cases of lateral incomplete impending fracture of the femoral neck without trauma in elderly patients taking long-term bisphosphonate (BP) treatment, and we defined it as atypical femoral neck fracture (AFNF). To the best of our knowledge, this is the first report on the follow-up results of AFNF.

Patient concerns:
Patients in both cases had been taking BP drugs for a long time with osteoporosis. The duration of BP treatment was 6 years, and there was no history of repeated stresses.

Diagnoses:
All fractures were linear at the lateral aspect of the mid portion of the femoral neck, and the BMD of the femoral neck was −0.9, and −1.8, respectively.

Interventions:
Internal fixation was performed in both cases (73 years, 68 years) using cannulated screws.

Outcomes:
In both patients who underwent screw fixation, the fracture line started to extend distally at 4 weeks and 2 weeks following surgery. In the 3-month follow-up image, the length of the fracture increased by 20.1 mm and 9.9 mm, respectively. There was a problem with active rehabilitation, and the possibility of revision was also found to be a burden in terms of mortality and cost in older patients.

Lessons:
In the case of AFNF, guidelines for treatment should be set in consideration of the decreased bone healing, even when the fracture pattern is simple. Arthroplasty based on a wider indication may be worth considering.
The effect of remote health intervention based on internet or mobile communication network on hypertension patients
Authors: Wu Yong , Zhao Pei , Li Wei , Cao Ming-Qiang , Du Lin , Chen Jian-Chang 
Published: February 2019

Abstract

Background:
To systematically review the impact of remote health interventions based on an internet or mobile communication network on patients with hypertension and to provide a theoretical basis for hypertension patients with the implementation of remote health interventions.

Methods:
Data were retrieved from a total of 4 Chinese databases and 3 foreign databases. The Chinese databases included: China National Knowledge Infrastructure (CNKI), WanFang Data, Chinese Biomedical Database (SinoMed), and Chongqing Chinese Science and Technology Journey database (VIP). The foreign language databases included PubMed, The Cochrane Library, and EMbase, and the date range for the search was from the date the database became active to December 1st, 2018. After screening and extracting the materials and evaluating the risk of bias in each study (conducted by 2 researchers), the quality of the selected literature was evaluated by Review Manager (RevMan) [Computer program]. Version 5.3. Copenhagen: The Nordic Cochrane Centre, The Cochrane Collaboration, 2014, and the statistical analysis was applied by Stata 12.0 software.

Result:
This study will provide high-quality evidence-based medicine research evidence for remote health interventions on hypertensive patients based on the Internet and mobile communication network using systematic evaluation and meta-analysis methods.

Conclusion:
This systematic review will provide a scientific conclusion as to whether the remote health intervention model based on an internet or mobile communication network can better control blood pressure and improve patient compliance than the traditional nursing intervention model for hypertensive patients.

Ethics and dissemination:
This protocol for a systematic review and meta-analysis of randomized controlled trials does not require ethical approval and the results of this paper will be published in an open form in internationally influential academic journals.

Protocol and registration:
A protocol had been registered in PROSPERO CRD42019122404.
The efficacy of extracorporeal membrane oxygenation in liver transplantation from non-heart-beating donors
Authors: Peng Jiang-Chen , Ding Jia , He Zheng-Yu , Deng Yu-Xiao , Xing Shun-Peng , Zhao Xian-Yuan , Li Zhe , Dai Yi-Li , Gao Yuan 
Published: February 2019

Abstract

Background:
A systematic review and meta-analysis was made to see whether extracorporeal membrane oxygenation (ECMO) in liver transplantation could improve non-heart-beating donors (NHBDs) recipients’ outcomes compared with donors after brain death (DBDs) recipients.

Methods:
We searched MEDLINE, EMBASE, and Cochrane Central Register of Controlled Trials for eligible studies. The study eligible criteria are cohort or case–control studies using ECMO in all NHBDs; studies involved a comparison group of DBDs; and studies evaluated 1-year graft and patient survival rate in NHBDs and DBDs groups.

Results:
Four studies with 704 patients fulfilled the inclusion criteria. The pooled odds ratio (OR) of 1-year patient survival rate in NHBDs recipients compared with DBDs recipients was 0.8 (95% confidence interval [CI], 0.41–1.55). The pooled OR of 1-year graft survival rate in NHBDs recipients compared with DBDs recipients was 0.46 (95% CI, 0.26–0.81). NHBDs recipients were at greater risks to the occurrence of primary nonfunction (PNF) (OR = 7.12, 95% CI, 1.84–27.52) and ischemic cholangiopathy (IC) (OR = 9.46, 95% CI, 2.76–32.4) than DBDs recipients.

Conclusions:
ECMO makes 1-year patient survival acceptable in NHBDs recipients. One-year graft survival rate was lower in NHBDs recipients than in DBDs recipients. Compared with DBDs recipients, the risks to develop PNF and IC were increased among NHBDs recipients.
Meta-analysis of the effectiveness of laparoscopic adjustable gastric banding versus laparoscopic sleeve gastrectomy for obesity
Authors: Li Laiyuan , Yu Huichuan , Liang Jinglin , Guo Yinyin , Peng Shaoyong , Luo Yanxin , Wang Jianping 
Published: February 2019

Abstract

Background:
Laparoscopic adjustable gastric banding (LAGB) and laparoscopic sleeve gastrectomy (LSG) are common weight loss procedures. Our meta-analysis compared these procedures for the treatment of morbid obesity and related diseases.

Methods:
We systematically searched the PubMed, Embase, and the Cochrane Library through January 2018. The percentage of excess weight loss (%EWL), improvement or remission of type 2 diabetes mellitus (T2DM) and hypertension were analyzed and compared.

Results:
Thirty-three studies with 4109 patients were included. Greater decreases in excess weight were found in patients who received LSG at 6 months (weighted mean difference (WMD) −9.29, 95% confidence interval (CI): −15.19 to −3.40, P = .002), 12 months (WMD −16.67 95% CI: −24.30 to −9.05, P < .0001), 24 months (WMD −19.63, 95% CI: −29.00 to −10.26, P < .0001), and 36 months (WMD −19.28, 95% CI: −27.09 to −11.47, P < .0001) than in patients who received LAGB. However, there were no significant differences in the 3-month outcomes between the 2 groups (WMD −1.61, 95% CI: −9.96 to 6.73, P = .70). T2DM patients after LSG experience more significant improvement or remission of diabetes (odds ratio (OR): 0.22, 95% CI: 0.06–0.87, P = .03). The 2 groups did not significantly differ regarding improvement or remission of hypertension (OR 0.80, 95% CI: 0.46–1.38, P = .42).

Conclusion:
LSG is a more effective procedure than LAGB for morbidly obese patients, contributing to a higher %EWL and greater improvement in T2DM.
Systematic Review of Probiotics for Cystic Fibrosis Patients
Authors: Neri Lenycia de Cassya Lopes , Taminato Monica , Silva Filho Luiz Vicente Ribeiro Ferreira da 
Published: February 2019

ABSTRACTBackground:Cystic fibrosis (CF) is associated with chronic respiratory disease and pancreatic insufficiency and results in the malabsorption of nutrients and intestinal inflammation. There is evidence that probiotic supplementation may impact the gastrointestinal and respiratory microbiota. This study aimed to categorize current evidence regarding the effects of supplementing with probiotics in CF patients on gastrointestinal and respiratory outcomes according to the type of intervention.Methods:The initial database search included all identified studies according to the recommendations of the Cochrane Collaboration, regardless of language, publication date or design. Studies were categorized by probiotic strain (Lactobacillus reuteri; Lactobacillus rhamnosus GG or a mix of strains); dosage (low dosage if <109 CFU [colony forming units] or high dosage if >109 CFU); and duration of intervention (1, 3, 6, or 12 months). Assessment of quality was performed based on the Cochrane risk of bias criteria and the Downs & Black checklist.Results:A total of 205 studies were identified; however, only 9 met the criteria for inclusion. The studies were considered to have a high risk of bias, hampering the possibility of performing a meta‐analysis. Eighty percent of the studies (4 of 5) reported a positive result for intestinal inflammation, and another 4 studies (4 of 5) reported a positive result for pulmonary exacerbation frequency, regardless of the treatment approach.Conclusions:The present data indicate a promising future for probiotic use in cystic fibrosis, which has an impact on exacerbations and intestinal inflammation; however, further studies of standardized therapeutic interventions are required.
Effects of the Gluten‐free Diet on Body Mass Indexes in Pediatric Celiac Patients
Authors: Amirikian Karine , Sansotta Naire , Guandalini Stefano , Jericho Hilary 
Published: February 2019

ABSTRACTObjective:The aim of the study was to determine the effects of the gluten‐free diet (GFD) on body mass indexes (BMIs) in children with celiac disease at University of Chicago before and after 2011, when processed gluten‐free foods became readily available on the market.Methods:We conducted a retrospective chart review of children seen at University of Chicago Celiac Center from January 2002 to May 2016. BMI was recorded upon GFD initiation in addition to at least 1 other timepoint: 6 months, 1 year, 2 years, 3 years, and 4+ years. We compared the rate of BMI increase in children who were diagnosed before versus after 2011.Results:A total of 147 children (66% girls) with biopsy‐confirmed celiac disease were included in the study. The mean BMI at diagnosis was 17.8 (standard deviation 3.9) for those diagnosed before 2011 and 17.1 (standard deviation 2.7) for those diagnosed after 2011. Based on a mixed‐effects random‐intercept random‐slope regression model, there was no evidence for significant difference in BMI change over time between the 2 groups (P value = 0.36). BMI values overall were noted to increase after starting the GFD, even at the first appointment. Serologies were monitored after patients started the GFD and approached normal values, allowing us to conclude that patients were adherent to the GFD.Conclusions:Although overall we observed no significant changes in BMI before and after 2011, we did notice that in adolescent celiac patients there was a trend toward a higher postdiagnosis BMI in the years after 2011. We speculate that teenagers may be especially vulnerable to choosing quick and easy processed gluten‐free options over more healthy, natural alternatives leading to a rise in their BMIs after the 2011 surge in production of processed gluten‐free foods on the market. Therefore, special attention must be paid to this population to insure ongoing healthy food choices even after many years on the GFD.
Exploring the Experiences of People Treated With Immunotherapies for Advanced Melanoma and Those Caring for Them: “Real-World” Data
Authors: Milne Donna , Hyatt Amelia , Billett Alex , Gough Karla , Krishnasamy Mei 
Published: February 2019

Background
Recent advances in the development of immunotherapy drugs have resulted in durable responses and improved overall survival for a proportion of patients with advanced melanoma; however, toxicities can be potentially life-threatening. The patients' family and friends (carers) are relied upon to support patients at home post treatment; however, we know little about their experiences.

Objectives
This study aimed to understand the experiences of patients with advanced melanoma who received immunotherapy and their carers; and to explore the impact of immunotherapy treatment on patients' and carers' quality of life (QoL).

Methods
A cross-sectional, exploratory design was employed. Semi-structured interviews were conducted with patients: diagnosed with stage IV melanoma, attending an Australian public cancer hospital, had completed or were receiving treatment with immunotherapies; and the people caring for them at home.

Results
Patients (n = 22) described how immunotherapy impacted emotional health, functional ability; and had damaging economic consequences. Fatigue was reported consistently as having a considerable negative influence across all domains of QoL. Carers (n = 9) were anxious about their ability to correctly identify, report and manage side effects at home.

Conclusions
Results demonstrate how immunotherapy can impact the QoL of both patients and carers, either directly through toxicities or indirectly through mechanisms such as stress, financial toxicity, or fatigue that limits participation in life activities.

Implications for Practice
Supportive care resources and interventions are needed for those receiving immunotherapy to minimise negative impacts on QoL. Carers likewise require better preparation and information to assist in identifying potential treatment toxicities and ensure patient safety.
The Fainting Assessment Inventory
Authors: Heyer Geoffrey L. 
Published: February 2019

AbstractThe conversion disorder that appears like syncope is common but poorly recognized. The study aimed to develop and validate a brief, clinician-administered screening tool to discriminate psychogenic nonsyncopal collapse (PNSC) among young patients referred for fainting. Consecutive patients with PNSC and with syncope (15.4 ± 2.2 years) completed a 92-item inventory highlighting features typical of PNSC and neurally mediated syncope (n= 35, each cohort). Fourteen items were retained and revised and then administered to new cohorts ultimately diagnosed with PNSC or syncope (n= 40, each cohort). Further revision led to a 10-item Fainting Assessment Inventory (FAI-10). Scoring the syncope ratings positively and the PNSC ratings negatively, median scores differed between cohorts with PNSC and with syncope (−6vs. 7;p< 0.001). Diagnostic sensitivity (0.95), specificity (0.875), positive predictive value (0.889), negative predictive value (0.93), and area under the curve (0.973) were calculated. The FAI-10 furthers clinicians' ability to distinguish various forms of transient loss of consciousness.