bluuebunny/crossref_metadata_2025_split huggingface dataset:
A Chinese Family With Cerebral Cavernous Malformation Caused by a Frameshift Mutation of the CCM1 Gene: A Case Report and Review of the Literature
Authors: Liu Wenyu , Liu Ming , Lu Di , Wang Jiwei , Cao Zexin , Liu Xuchen , Feng Zichao , Huang Bin , Wang Xinyu 
Published: April 2022

BackgroundFamilial cerebral cavernous malformation (FCCM) is a vascular malformation disease closely linked to three identified genes:KRIT1/CCM1, MGC4607/CCM2andPDCD10/CCM3. Over the past decade, a few cases of cerebral cavernous malformation (CCM) caused by different gene mutations have been reported in Chinese families. Herein, we introduce a Chinese family affected by FCCM due to a kind ofKRIT1/CCM1frameshift mutation. At the same time, a literature review was conducted to identify case reports of familial cerebral cavernous malformation.Case presentationThe proband in the family in question demonstrated a series of clinical symptoms and features, including headache and bleeding. The proband was hospitalized for headache twice and, both times was examined under suspicion of CCM and received surgical treatment. Magnetic resonance imaging results showed that the proband had multiple intracranial vascular lesions, including on the brain, brainstem, and cerebellum. Genetic test results showed that the classicKRIT1gene in the proband had a pathogenic mutation. The family members of the proband also showed typical cerebral cavernous malformation when considering clinical manifestations, magnetic resonance imaging findings and genetic test results.ConclusionsWe report a case of Chinese FCCM and its associated symptoms withCCM1-deletion mutations in China. Our findings deepen our understanding of CCM mutations and related phenotypes, the investigation results of this clinical experiment further show that the gene mutation form we reported plays an important role in human FCCM, and this trial investigation is beneficial for genetic counseling for CCM patients.
Delayed Post-Hypoxic Leukoencephalopathy Following Nitrite Poisoning: A Case Report and Review of the Literature
Authors: Chen Yankun , Liu Qiumei , Wang Jian , Li Hui , Zhang Yousheng , Sun Lingling , Liu Jianli 
Published: April 2022

BackgroundDelayed post-hypoxic leukoencephalopathy (DPHL) is a demyelinating syndrome that occurs days to weeks after the brain has recovered from a coma. It is caused by the period of hypoxia and is characterized by mental disorders, extrapyramidal system symptoms, and motor changes. Common causes include cardiogenic shock, severe anemia, massive blood loss, and poisoning. Poisoning, mostly resulting from intoxication with carbon monoxide and several narcotic drugs, has been reported to be a cause of DPHL. There are only a few reports of DPHL due to nitrite poisoning in literature. We report DPHL in a patient following nitrite poisoning and a review of the literature in this context.Case PresentationA 64-year-old man presented with dizziness and nausea without vomiting. He later went into a coma after consuming a spare rib soup. After blood gas analysis, we suspected nitrite poisoning combined with metabolic acidosis, hypoxemia, and electrolyte imbalance. He gradually showed neurologic recovery to premorbid baseline after intravenous administration of methylene blue (40 mg) and symptomatic treatment. Two months later, the patient's cerebral magnetic resonance imaging (MRI) showed signs that are compatible with injury, with the patient in late stages of mental decline.ConclusionNitrite poisoning can cause DPHL. There is a period of intermittent recovery between the time of poisoning and the development of DPHL, but the specific pathogenesis and treatment are still unclear.
Post-Treatment Plasma D-Dimer Levels Are Associated With Short-Term Outcomes in Patients With Cancer-Associated Stroke
Authors: Nakajima Sho , Kawano Hiroyuki , Yamashiro Kazuo , Tanaka Ryota , Kameda Tomoaki , Kurita Naohide , Hira Kenichiro , Miyamoto Nobukazu , Ueno Yuji , Watanabe Masao , Hirano Teruyuki , Fujimoto Shigeru , Urabe Takao , Hattori Nobutaka 
Published: April 2022

Background and ObjectiveHypercoagulability is associated with increased risks of ischemic stroke and subsequent mortality in patients with active cancer. This study investigated the relationships between plasma D-dimer levels after stroke treatment and short-term outcomes in patients with cancer-associated stroke.MethodsThis retrospective, observational, multicenter study analyzed consecutive patients with cancer-associated ischemic stroke. Hypercoagulability was assessed by plasma D-dimer levels before and after stroke treatment. Short-term outcomes were assessed in terms of poor outcomes (a modified Rankin Scale score &gt;3), cumulative rates of recurrent ischemic stroke, and mortality at 30 days after admission.ResultsOf 282 patients, 135 (47.9%) showed poor outcomes. Recurrent ischemic stroke was observed in 28 patients (9.9%), and the cumulative mortality rate was 12.4%. Multivariate analysis showed that post-treatment plasma D-dimer levels ≥10 μg/ml were independently associated with both poor outcomes (adjusted odds ratio [OR], 9.61; 95% confidence interval [CI], 3.60–25.70; P &lt; 0.001) and mortality (adjusted OR, 9.38; 95% CI, 3.32–26.44; P &lt; 0.001). Pre-treatment plasma D-dimer levels ≥10 μg/ml were not associated with these outcomes. Patients who received heparin had higher pre-treatment plasma D-dimer levels than those treated with other anticoagulants. Heparin produced a significant reduction in D-dimer levels from pre- to post-treatment without increasing the incidence of hemorrhagic events.ConclusionA high plasma D-dimer level after stroke treatment was associated with poor short-term outcomes in patients with cancer-associated stroke. Using anticoagulants to reduce D-dimer levels may improve short-term outcomes in these patients.
The Association Between Total Protein Intake and All-Cause Mortality in Middle Aged and Older Korean Adults With Chronic Kidney Disease
Authors: Kwon Yu-Jin , Lee Hye Sun , Park Go Eun , Kim Hyung-Mi , Lee Jung Joo , Kim Woo Jeong , Lee Ji-Won 
Published: April 2022

Background and AimsOver the past decades, the optimum protein intake for patients with chronic kidney disease (CKD) has been an important, controversial issue. Dietary protein restriction has been commonly recommended for patients with CKD for preserving kidney function. However, evidence of the associations between long-term protein intake and mortality is not consistent in patients with CKD. Therefore, we aimed to examine the associations between total protein intake and all-cause mortality in Korean adults with CKD.MethodsFrom three sub-cohorts of the Korean Genome and Epidemiology Study (KoGES) starting from 2001, total 3,892 participants with eGFR &lt; 60 mL/min/1.73 m2 (CKD stage 3–5) were included in this study. Dietary data were collected using food-frequency questionnaires at baseline. Deaths were followed from 2001 to 2019. Cox proportional hazards regression model was used to evaluate the association between protein intake and all-cause mortality.ResultsDuring a median follow-up (min-max) of 11.1 years (0.3–15.1), 602 deaths due to all causes of mortality were documented. After adjustment for covariates, higher total protein intake was not associated with all-cause mortality [highest vs. lowest quintile of total protein intake (g/kg/day) and proportion (%) (Q5 vs. Q1), HR = 1.14 (0.75–1.72), and HR = 0.87 (0.67–1.13)] in CKD stage 3–5 patients.ConclusionDietary protein intake was not associated with mortality from all causes in patients with CKD. Further research is needed to establish optimal protein intake levels and examine the impact of the dietary source of protein on various health outcomes and mortality in CKD.
Mediterranean Diet Combined With a Low-Carbohydrate Dietary Pattern in the Treatment of Overweight Polycystic Ovary Syndrome Patients
Authors: Mei Shanshan , Ding Jie , Wang Kaili , Ni Zhexin , Yu Jin 
Published: April 2022

ObjectivesTo determine the therapeutic effect of a Mediterranean diet (MED) combined with a low-carbohydrate (LC) dietary model in overweight polycystic ovary syndrome (PCOS) patients.MethodsIn this 12-week randomized controlled clinical trial, 72 overweight patients with PCOS were randomly assigned to one of two energy-restricted dietary models: the MED/LC diet or the Low fat (LF) diet. After the intervention, the number of the two groups returned to normal menstruation was counted. Body weight, body mass index (BMI), waist circumference, waist-hip ratio (WHR), body fat percentage (BF%), serum fasting insulin(FINS), fasting plasma glucose(FPG), insulin resistance index (HOMA-IR), quantitative insulin sensitivity index (QUIKI), total cholesterol (TC) and high density lipoprotein cholesterol (HDL-C), low density lipoprotein cholesterol (LDL-C), triglyceride (TG), total testosterone (TT), luteinizing hormone (LH), follicle-stimulating hormone (FSH), and prolactin (PRL) were compared between 2 groups before and after intervention.ResultsMED/LC group had more significant reduction trend in weight (−6.10 ± 1.52 kg vs −4.79 ± 0.97 kg, P &lt; 0.05), BMI (−2.12 ± 0.57 kg/m2 vs −1.78 ± 0.36 kg/m2, P &lt; 0.05), WC (−6.12 ± 5.95 cm vs −3.90 ± 1.58 cm, P &lt; 0.05), WHR (−0.06 ± 0.02 vs −0.03 ± 0.02, P &lt; 0.05), BF% (−2.97% ± 1.78% vs −1.19% ± 0.91%, P &lt; 0.05), TT (−0.20 ± 0.24 ng/mL vs 0.08 ± 0.11 ng/Ml, P &lt; 0.001), LH (−5.28 ± 3.31 mIU/mL vs −3.39 ± 3.64 mIU/mL, P &lt; 0.05), and LH/FSH (−1.18 ± 0.75 vs -0.66 ± 1.05, P &lt; 0.05) compared with the LF group. In addition, FPG (0.05 ± 0.38 mmol/mL vs -0.50 ± 1.01 mmol/mL, P &lt; 0.001), FINS (−4.88 ± 6.11 μU/mL vs −8.53 ± 5.61 μU/mL, P &lt; 0.01), HOMA-IR index (−1.11 ± 1.51 vs −2.23 ± 0.25, P &lt; 0.05), and QUIKI index (0.014 ± 0.016 vs 0.028 ± 0.019, P &lt; 0.05) decreased significantly in the MED/LC group compared with the LF group. Comparing the changes in lipid parameters between the two groups (LF vs MED/LC), significant differences in TG (−0.33 ± 0.32 mmol vs −0.76 ± 0.97 mmol, P &lt; 0.05), TC (−0.40 ± 1.00 mmol vs −1.45 ± 2.00 mmol, P &lt; 0.05), and LDL-C (−0.41 ± 1.05 mmol vs −0.73 ± 0.76 mmol, P &lt; 0.05) were observed.ConclusionThe results of this study suggest that the MED/LC diet model is a good treatment for overweight PCOS patients, significantly restoring their menstrual cycle, improving their anthropometric parameters and correcting their disturbed endocrine levels, and its overall effectiveness is significantly better than the LF diet model. Therefore, this study recommends that the MED/LC diet model can be used in the clinical treatment of patients with overweight PCOS.
Genomic and Molecular Signatures of Successful Patient-Derived Xenografts for Oral Cavity Squamous Cell Carcinoma
Authors: Yen Wei-Chen , Chang Ian Yi-Feng , Chang Kai‐Ping , Ouyang Chun‐Nan , Liu Chiao-Rou , Tsai Ting-Lin , Zhang Yi-Cheng , Wang Chun-I , Wang Ya-Hui , Yu Alice L. , Liu Hsuan , Wu Chih-Ching , Chang Yu-Sun , Yu Jau-Song , Yang Chia-Yu 
Published: April 2022

BackgroundOral cavity squamous cell carcinoma (OSCC) is an aggressive malignant tumor with high recurrence and poor prognosis in the advanced stage. Patient-derived xenografts (PDXs) serve as powerful preclinical platforms for drug testing and precision medicine for cancer therapy. We assess which molecular signatures affect tumor engraftment ability and tumor growth rate in OSCC PDXs.MethodsTreatment-naïve OSCC primary tumors were collected for PDX models establishment. Comprehensive genomic analysis, including whole-exome sequencing and RNA-seq, was performed on case-matched tumors and PDXs. Regulatory genes/pathways were analyzed to clarify which molecular signatures affect tumor engraftment ability and the tumor growth rate in OSCC PDXs.ResultsPerineural invasion was found as an important pathological feature related to engraftment ability. Tumor microenvironment with enriched hypoxia, PI3K-Akt, and epithelial–mesenchymal transition pathways and decreased inflammatory responses had high engraftment ability and tumor growth rates in OSCC PDXs. High matrix metalloproteinase-1 (MMP1) expression was found that have a great graft advantage in xenografts and is associated with pooled disease-free survival in cancer patients.ConclusionThis study provides a panel with detailed genomic characteristics of OSCC PDXs, enabling preclinical studies on personalized therapy options for oral cancer. MMP1 could serve as a biomarker for predicting successful xenografts in OSCC patients.
Enhanced Recovery After Surgery Protocol Optimizes Results and Cost of Laparoscopic Radical Nephrectomy
Authors: Chen Siming , He Zhiwen , Yao Shijie , Xiong Kangping , Shi Jiageng , Wang Gang , Qian Kaiyu , Wang Xinghuan 
Published: April 2022

PurposeTo assess the impact of enhanced recovery after surgery (ERAS) protocols in laparoscopic radical nephrectomy (LRN).MethodsThe clinical data of 89 patients underwent LRN in Zhongnan Hospital of Wuhan University from February 2019 to September 2021 were collected (40 in the ERAS group and 49 in the pre-ERAS group). The clinical characteristics, prognosis, and length of hospital stay (LOS) were compared between the two groups using t test, Mann-Whitney test, and chi-square test.ResultsTotal LOS and postoperative LOS were significantly shorter in ERAS group than in pre-ERAS group [15.0 (13.5-19.5) vs. 12.0 (10.0-14.0), P &lt; 0.001; 8.0 (7.0-10.0) vs. 7.0 (5.0-8.8), P = 0.001]. Compared with the pre-ERAS group, the hospitalization expenses of the ERAS group were also lower (P = 0.023). In addition, the incidence of postoperative complications in the ERAS group also decreased (P = 0.054).ConclusionsERAS protocol in LRN could help accelerate the recovery of patients and is worthy of clinical promotion.
Breakouts—A Radiological Sign of Poor Prognosis in Patients With Brain Metastases
Authors: Blazquez Raquel , Proescholdt Martin Andreas , Klauser Marlene , Schebesch Karl-Michael , Doenitz Christian , Heudobler Daniel , Stange Lena , Riemenschneider Markus J. , Bumes Elisabeth , Rosengarth Katharina , Schicho Andreas , Schmidt Nils-Ole , Brawanski Alexander , Pukrop Tobias , Wendl Christina 
Published: April 2022

PurposeBrain metastases (BM) can present a displacing or infiltrating growth pattern, independent of the primary tumor type. Previous studies have shown that tumor cell infiltration at the macro-metastasis/brain parenchyma interface (MMPI) is correlated with poor outcome. Therefore, a pre-therapeutic, non-invasive detection tool for potential metastatic cell infiltration at the MMPI would be desirable to help identify patients who may benefit from a more aggressive local treatment strategy. The aim of this study was to identify specific magnetic resonance imaging (MRI) patterns at the MMPI in patients with BM and to correlate these patterns with patient outcome.Patients and MethodsIn this retrospective analysis of a prospective BM registry, we categorized preoperative MR images of 261 patients with BM according to a prespecified analysis system, which consisted of four MRI contrast enhancement (CE) patterns: two with apparently regularly shaped borders (termed “rim-enhancing” and “spherical”) and two with irregular delineation (termed “breakout” and “diffuse”). The primary outcome parameter was overall survival (OS). Additionally analyzed prognostic parameters were the Karnofsky Performance Index, tumor size, edema formation, extent of resection, and RPA class.ResultsOS of patients with a breakout pattern was significantly worse than OS of all other groups.ConclusionOur data show that BM with a breakout pattern have a highly aggressive clinical course. Patients with such a pattern potentially require a more aggressive local and systemic treatment strategy.
Accelerating Decreases in the Incidences of Hepatocellular Carcinoma at a Younger Age in Shanghai Are Associated With Hepatitis B Virus Vaccination
Authors: Yu Shunzhang , Zhu Qirong , Zheng Ying , Wu Chunxiao , Ren Hong , Liu Xing , Liu Zhenqiu , Li Yanting , Pan Qichao , Zheng Ying-Jie 
Published: April 2022

BackgroundRoutine vaccination of infants for protecting against hepatitis B virus (HBV) infection and its serious consequences, including hepatocellular cancer (HCC), has been carried out in Shanghai, China, since 1986. We therefore have examined the trend of HBV infection and HCC incidences before and after HBV vaccination over decades to assess the potential influences of the Shanghai HBV vaccination program.MethodsData on incidences of HBV infection and HCC were collected from the Shanghai Cancer Registry and the Shanghai HBV vaccination follow-up study. Joint-point regression and the Bayesian age-period-cohort statistical analysis methods were used.ResultsThe incidences of HBV infection dramatically declined from 23.09 and 1.13 per 100,000 for males and females in 2000 to 3.24 (-85.97%) and 0.22 (-80.53%) per 100,000 in 2014, respectively. Sero-epidemiological data from the sampling surveys during 20 years of follow-up showed that less than 1% of people undergoing HBV vaccination have a positive serum HBsAg. Consistently, the annual adjusted standardization rates (ASR) of HCC steadily fell from 33.38 and 11.65 per 100,000 for males and females in 1973 to 17.34 (-49.2%) and 5.60 (-51.9%) per 100,000 in 2014, respectively. The annual percentage change in overall HCC incidences is about -2%. HCC incidences in males at younger age groups (age &lt;50 years old), particularly in those with age &lt;34 groups, showed an accelerating decrease over time, whereas HCC incidences significantly declined in the female population across all age groups except for those under 19 years of age. The results supported that the universal HBV vaccination in newborns is easy to implement with high coverages and is effective for preventing both HBV infection and HCC in populations.
Peroral Endoscopic Myotomy for Pediatric Achalasia: A Retrospective Analysis of 21 Cases With a Minimum Follow-Up of 5 Years
Authors: Peng Dongzi , Tan Yuyong , Li Chenjie , Lv Liang , Zhu Hongyi , Liang Chengbai , Li Rong , Liu Deliang 
Published: April 2022

BackgroundPeroral endoscopic myotomy (POEM) has shown promising short-term safety and efficacy in pediatric patients, while long-term outcomes are largely unknown. This study aimed to assess the clinical effects of POEM for pediatric achalasia who had a follow-up of at least 5 years.MethodsPediatric patients from a single center who underwent a POEM between October 2011 and November 2016 were, respectively, collected and analyzed for long-term clinical outcomes. Patients were contacted to evaluate their current symptoms and encouraged repeat endoscopy and manometry. The clinical success, procedure-related parameters, adverse events, gastroesophageal reflux disease after POEM, and quality of life were evaluated.ResultsA total of twenty-four patients who underwent POEM in our center were studied, with a mean age of 14.42 ± 2.65. Two of the 24 patients (8.3%) had previous treatment. The mean of the procedure time was 58.67 ± 19.10 min, 8.3% (2/24) of patients experienced perioperative adverse events. The current symptom scores were obtained from 21 patients at a mean follow-up of 92.57 months, the remainder were lost to follow-up after a mean of 38 months. Eckardt scores were significantly improved from preoperative baseline (preoperative 7.67 ± 1.62 vs. current 0.86 ± 1.28, P &lt; 0.001). Long-term overall success was achieved in 95.8% of patients and none required retreatment for symptoms. 12.5% of patients were suffered from clinical reflux. 76.2% of patients expressed satisfaction with POEM. No severe adverse events were observed during the operation and the 5-years follow-up.ConclusionPOEM resulted in successful symptomatic mitigation in a majority of pediatric patients after 5 years. A multi-center large-scale, prospective study is necessary for a confirmed conclusion.
Channa Striatus Protects Against PTZ-Induced Seizures in LPS Pre-conditioned Zebrafish Model
Authors: Lee Vanessa Lin Lin , Norazit Anwar , Noor Suzita Mohd , Shaikh Mohd. Farooq 
Published: April 2022

Epilepsy is a neurological disorder characterized by recurrent unprovoked seizures. Mounting evidence suggests the link between epileptogenesis and neuroinflammation. We hypothesize that eliminating neuroinflammation can alleviate seizure severity and prolong seizure onset. Channa striatus (CS) is a snakehead murrel commonly consumed by locals in Malaysia, believed to promote wound healing and mitigate inflammation. This study aims to unravel the anticonvulsive potential of CS extract on neuroinflammation-induced seizures using an adult zebrafish model. Neuroinflammation was induced via cerebroventricular microinjection of lipopolysaccharides from E. coli and later challenged with a second-hit pentylenetetrazol at a subconvulsive dose of 80 mg/kg. Zebrafish behaviour and swimming pattern analysis, as well as gene expression analysis, were done to study the pharmacological property of CS. CS extract pre-treatment in all doses significantly reduced seizure score, prolonged seizure onset time and slightly improved the locomotor swimming pattern of the zebrafish. CS extract pre-treatment at all doses significantly reduced the expression of NFKB gene in the brain, and CS extract at 25 mg/L significantly reduced the IL-1 gene expression suggesting anti-neuroinflammatory properties. However, there were no significant changes in the TNFα. Besides, CS extract at 50 mg/L also elevated the expression of the CREB gene, which exerts neuroprotective effects on the neurons and the NPY gene, which plays a role in modulating the inhibition of the excitatory neurotransmission. To sum up, CS extract demonstrated some anticonvulsive and anti-inflammatory activity on neuroinflammation-induced seizures. Still, more studies need to be done to elucidate the mechanism of action of CS extract.