bluuebunny/crossref_metadata_2025_split huggingface dataset:
Combined sclerotherapy followed by surgical resection of a large extracranial venous malformation in a 14-month-old child : preoperative workup and technical note
Authors: Lavé Alexandre , Yilmaz Hasan , Rosi Andrea , Paun Luca , Patet Gildas , Bartoli Andrea 
Published: June 2022

Abstract
Introduction : Venous malformations affect around 2 per 10,000 newborn and are the most common type of congenital vascular malformation. They are always present at birth and are often misdiagnosed with hemangiomas. Accurate diagnosis and adequate targeted therapy through a multidisciplinary approach is advocated for a successful treatment, considering a combination of modalities in complex cases. We present here the workup and treatment of a venous malformation in a 14 month old child by combining a preoperative sclerotherapy with sodium tetradecyl sulfate (STS) followed by complete surgical excision respecting the calvarium.Case Presentation : A large right extracranial fronto-parietal venous malformation and scalloping of the underlying calvarium, attached to the pericranium, surgically excised after preoperative sclerotherapy with STS in a 14-month-old child. Results : The patient had an uneventful postoperative course with complete resection of the lesion , satisfying cosmetic appearance and no complications. Histopathological examination confirmed a venous malformation.Conclusion : We demonstrated the workup and the rationale of the combined sclerotherapy followed by surgical resection of a large growing extracranial venous malformation. Preoperative direct contrast injection and sclerotherapy allowed to rule out significative extracranial to intracranial venous inflow and reduce blood loss for the surgical procedure, respectively. Complete removal of the malformation minimized the impact on future growth of the calvarium.
Jalili Syndrome: A new pathogenic mutation of CNNM4 gene
Authors: Jamali Sara , Shirzadeh Sina , Alerasool Masoome , Kayedpoor Parvin , Mojarrad Majid 
Published: June 2022

Abstract
Jalili syndrome (JS) is a rare autosomal recessive with two cardinal symptoms including cone-rod dystrophy (CRD) and amelogenesis imperfecta (AI). This disease caused by different mutations on the metal transporter gene CNNM4 located on 2q11. This report described an Iranian family with clinical features of JS and phenotypic variability in terms of ocular and dental findings. The parents were healthy and consanguineous, but three out of their four offspring shared an oculo-dental phenotype. Dental and ocular examination shows CRD and AI. Enamel destruction and Ocular symptoms began in their childhood. Whole exome sequencing (WES) in the proband identified a novel homozygous mutation (c.G1423A:p.V475M) in the CNNM4 gene. These findings suggested that the p.V475M mutation in homozygous state induces a complete phenotype with both CRD and AI.
Posterior translation of the radial head in magnetic resonance imaging of lateral epicondylitis: a cross-sectional study
Authors: Saeki Masaomi , Yamamoto Michiro , Tatebe Masahiro , Kurimoto Shigeru , Yoneda Hidemasa , Hirata Hitoshi 
Published: June 2022

Abstract
Background:Disruption of the lateral collateral ligament complex (LCLC) causes posterolateral rotatory instability (PLRI). This is usually post-trauma but may also result from lateral epicondylitis. The present study examined the amount of posterior translation of the radial head related to LCLC injury, Common extensor tendon (CET) injury, and Baker classification in patients with lateral epicondylitis.Methods:We retrospectively evaluated the findings for patients with lateral epicondylitis of the humerus who underwent surgery at our institution between April 2016 and July 2021. Fifteen elbows with preoperative coronal and sagittal MR images were included. We evaluated posterior translation of the radial head on sagittal elbow MRI and compared it according to LCLC and CET lesion classifications in lateral epicondylitis.Results:Mean patient age was 49 years. All patients received single or multiple steroid injections before surgery. In the LCLC classification, four, nine, and two lesions were classified as LCLC0, LCLC1, and LCLC2, respectively. The mean radio-humeral distance (RHD) values for the LCLC lesions were 0.65 mm in LCLC0, 2.46 mm in LCLC1, 2.22 mm in LCLC2. RHD was significantly greater in LCLC1 than in LCLC0. In the CET classification, five, six, and four lesions were classified as CET1, CET2, and CET3, respectively. The mean RHD values for the CET lesions were 1.33 mm in CET1, 2.68 mm in CET2, 1.48 mm in CET3.Conclusions:Posterior translation of the radial head on MRI in patients with lateral epicondylitis is greater in cases with LCLC lesions than in those with normal findings.
Utility of the desmopressin test in diagnosing silent corticotroph adenomas
Authors: Matsuda Yayoi , Sakamoto Ryuichi , Shiraishi Hiroki , Yamashita Saori , Nakao Hiroshi , Terada Eriko , Ogata Masatoshi , Miyazaki Yoshiko , Yamamoto Hidetaka , Kuga Daisuke , Yoshimoto Koji , Ogawa Yoshihiro 
Published: June 2022

Abstract
Purpose: Silent corticotroph adenomas (SCAs) are difficult to diagnose in patients with non-functioning pituitary adenomas (NFPAs). This study investigated the diagnostic performance of the desmopressin test (DT) for SCA in patients with NFPAs.Methods: This prospective study was conducted at a single referral center. 37 patients with NFPAs were recruited, including 13 patients with SCA and 24 without SCA. All patients underwent corticotropin-releasing hormone (CRH) testing and preoperative DT. Early postoperative CRH tests and DT were performed in patients with SCA. Radiological and endocrinological characteristics, surgical outcomes, and results of the CRH test and DT were compared between the SCA and non-SCA groups.Results: Preoperative DT showed a higher absolute adrenocorticotropic hormone (ACTH) increment (ΔACTH), absolute cortisol increment (ΔCort), percentage ACTH change (% ΔACTH), and percentage absolute cortisol change (% ΔCort) in patients with SCAs than in those without SCAs. ΔACTH greater than 9.9 pg/mL led to 100% sensitivity and 92% specificity. Total resection was achieved in 31% (4/13) of patients with SCA. When postoperative DT data were compared according to SCA remnant status, ΔACTH ≧ 5.2 pg/mL showed 100% sensitivity and 75% specificity with an accuracy rate of 91%.Conclusion: DT can be used to diagnose and detect tumor remnants in patients with SCA.
Pathogenic/likely pathogenic copy number variations and regions of homozygosity in fetal central nervous system malformations
Authors: Zhi Yunxiao , Liu Ling , Cui Shihong 
Published: June 2022

Abstract
Objective To explore pathogenic/likely pathogenic copy number variations (p/lp CNVs) and regions of homozygosity (ROH) in fetal central nervous system (CNS) malformations. Methods Clinical data from 539 fetuses with CNS malformations diagnosed by ultrasound / MRI and chromosomal microarray analysis (CMA) was performed at the Third Affiliated Hospital of Zhengzhou University from January 2016 to December 2019 were collected retrospectively. The fetuses were divided into two groups according to whether they had other structural abnormalities. The CNS phenotypes of the two groups were further classified into the simple or complicated type (≥2 types). Results (1) A total of 35 cases of p/lp CNVs were found. The incidence of p/lp CNVs in extra-CNS group 18.00 % (9 / 50) was greater than isolated group 5.32 % (26 / 489) (P < 0.01), while the simple type and complicated type has no statistical significance. (2) In the simple type, the three most common p/lp CNVs phenotypes were holoprosencephaly, Dandy-Walker syndrome, and exencephaly. There were no p/lp CNVs associated with anencephaly, microcephaly, arachnoid cysts, ependymal cysts, intracranial hemorrhage. (3) Only four cases of ROH were found, there were no cases of uniparental disomy or autosomal diseases. Conclusion The p/lp CNVs detection rate varied significantly among the different phenotypes of CNS malformations. While simple central nervous system abnormalities may be associated with genetic syndromes, CMA is not necessary for all CNS malformations. It is likely that ROH are not required for central nervous system malformations.
DNA methylation at insulin-insulin like growth factor 2 is associated with prenatal exposure to sulfur dioxide and childhood attention-deficit hyperactivity disorder symptoms
Authors: Choi Yoon-Jung , Cho Jinwoo , Hong Yun-Chul , Lee Dong-wook , Moon Sungji , Park Soo Jin , Lee Kyung-shin , Shin Choong Ho , Lee Young Ah , Kim Bung-Nyun , Kaminsky Zachary , Kim Johanna Inhyang , Lim Youn-Hee 
Published: June 2022

Abstract
Backgrounds: Epigenetic influence plays a role in the association between exposure to air pollution and attention deficit hyperactivity disorder (ADHD); however, research regarding sulfur dioxide (SO2) is scarce. Herein, we investigate the associations between prenatal SO2 exposure and ADHD rating scale (ARS) scores at ages 4, 6, and 8 years repeatedly in a mother-child cohort (n = 329). Whole blood samples were obtained at ages 2 and 6 years, and genome-wide DNA methylation (DNAm) was analyzed for 51 children using the Illumina Infinium HumanMethylation BeadChip. We analyzed the associations between prenatal SO2 exposure and DNAm levels at ages 2 and 6, and investigated the association between the DNAm levels at the significant CpGs and ARS at ages 4, 6, and 8. Weighted gene co-methylation network analysis was conducted to detect modules weighted for prenatal SO2 exposure and ARS.Results: Prenatal SO2 exposure was associated with ADHD symptoms. DNAm levels at the 6 CpGs (cg07583420 (INS-IGF2), cg05075097 (INS-IGF2), cg25163476 (INS-IGF2), cg20296524 (TARBP1), cg15705054 (PBXIP1), and cg05951817 (SLC6A4)) at age 2 were associated with prenatal SO2 exposure levels; however, DNAm at age 6 was not associated with prenatal SO2 exposure. Of the 6 CpGs, 5 were grouped into a module correlated with prenatal SO2 exposure and ARS, of which cg07583420 (INS-IGF2) was persistently linked with ARS at ages 4, 6, and 8. Conclusions: Changes in DNAm levels associated with prenatal SO2 exposure during early childhood are linked to increases in ARS in later childhood.
Prognostic and immunological potential of PPM1G in lung adenocarcinoma
Authors: Yin Rongjiang , Qu Li , Tang Jian , Yang Donglin , Gu Hua , Du Pengchao , Dong Menghua 
Published: June 2022

Abstract
BackgroundLung cancer is one of the malignant tumors with the worst incidence rate and mortality, and the prognosis is very poor. PPM1G is a serine/threonine phosphatase，which is involved in the proliferation, invasion and metastasis of tumor cells. However, there are few reports on the role of PPM1G in lung adenocarcinoma (LUAD).MethodsIn this study, We used public data from The Cancer Genome Atlas (TCGA) and Gene Expression Omnibus (GEO) databases to evaluate the expression of PPM1G in LUAD and the relationship between PPM1G expression and prognosis of patients with LUAD.Immunohistochemical staining of PPM1G in lung cancer tissues was detected by HPA database. The correlation between PPM1G and cancer immune signatures was analyzed by single sample gene set enrichment analysis (SSGSEA) on TCGA databases. Kaplan-Meier method was used for survival analysis. Univariate and multivariate Cox regression were used to analyze the prognosis. ResultsOur results showed that PPM1G is highly expressed in cancer tissues of LUAD. The high expression of PPM1G was related with poor clinical stage, T stage, N stage and overall survival in LUAD. We screened 29 genes related to PPM1G and closely related to the cell cycle of LUAD patients. The expression of PPM1G was positively correlated with immune cells TGD, Th2 cells, NK cd56dim cells, and was negatively correlated with B cells, Mast cells, pDC, T helper cells, Macrophages, T cells,CD8 T cells, Tcm, Tem, Neutrophils and TFH. PPM1G was positively correlated with immune detection points. ConclusionsIn conclusion, PPM1G may be involved in the control of lung cancer cell cycle and is associated with prognosis and immune infiltration in patients with LUAD.
Transplanted hair follicle mesenchymal stem cells alleviated small intestinal ischaemia–reperfusion injury via intrinsic and paracrine mechanisms in a rat model
Authors: Gao Yang , Chen Haoyuan , Cang Xueyu , Chen Hongliang , Di Yuzhu , Qi Jihan , Cai Huimin , Luo Kunpeng , Jin Shizhu 
Published: June 2022

Abstract
Background
Small intestinal ischaemia-reperfusion (IR) injury is a common intestinal disease with high morbidity and mortality. Mesenchymal stem cells (MSCs) have been increasingly used in various intestinal diseases. This study aimed to evaluate the therapeutic effect of hair follicle MSCs (HFMSCs) on small intestinal IR injury.
Methods
We divided Sprague–Dawley (SD) rats into three groups: the sham group, IR group and IR + HFMSCs group. A small intestinal IR injury rat model was established by clamping of the superior mesenteric artery (SMA) for 30 minutes and reperfusion for 2 hours. HFMSCs were cultured in vitro and injected into the rats through the tail vein. Seven days after treatment, the intrinsic homing and differentiation characteristics of the HFMSCs were observed by immunofluorescence and immunohistochemical staining, and the paracrine mechanism of HFMSCs was assessed by Western blotting and ELISA.
Results
A small intestinal IR injury model was successfully established. HFMSCs could home to damaged sites, express PCNA and intestinal stem cell (ISC) markers, and promote small intestinal ISC marker expression. The expression levels of ANG1, VEGF and IGF1 in the IR + HFMSCs group were higher than those in the IR group. HFMSCs could prevent IR-induced apoptosis by increasing Bcl-2 expression and decreasing Bax expression. Oxidative stress level detection showed that the MDA content was decreased, while the SOD content was increased in the IR + HFMSCs group compared to the IR group. An elevated DAO level reflected the protective effect of HFMSCs on the intestinal mucosal barrier.
Conclusions
HFMSCs can alleviate small intestinal IR injury through intrinsic homing to the small intestine and by differentiating into ISCs, via a paracrine mechanism to promote angiogenesis, facilitate proliferation, reduce apoptosis, regulate the oxidative stress response, and protect intestinal mucosal function. Therefore, this study suggests that HFMSCs serve as a new option for the treatment of small intestinal IR injury.
Independent Association Between Malnutrition Inflammation Score And C Reactive Protein/Albumin Ratio In Hemodialysis Patients
Authors: Tur Kağan , Güçlü Aydın 
Published: June 2022

Abstract
ObjectiveAt this study we aimed to investigate relationship between Malnutrition Inflammation Score (MIS), C reactive protein /albumin ratio (CAR), albumin, CRP and other biochemical parameters at hemodialysis patients.Design and Methods66 ESRD patients on maintenance hemodialysis has been recruited to the study. MIS, biochemical parameters and CAR were analyzed.ResultsStatistically significant positive correlation was found between CAR and MIS≥7 (r=0.413, p=0.026), with CRP and MIS≥7 (r=0.388, p=0.038) and negative correlation was found with albumin and MIS (r=-0.511, p=0.005). For MIS, CAR, albumin and CRP a multiple regression ANOVA model was conducted to examine that relation of CAR, CRP, albumin on MIS (F=6.432, p=0.002). ANOVA model was found statistically significant (r=0.660, p=0.002). Variables CAR (p=0.003), albumin (p=0.008) and CRP(p=0.003) was found significant in the ANOVA model.ConclusionOur study showed first time in the literature that CAR is independently associated with MIS in HD patients.
The role of polarized macrophages in the activation of resolution pathways within human granulosa cells
Authors: Martins Thaise S. , Fonseca Bruno M. , Rebelo Irene 
Published: June 2022

Abstract
Background
Inflammatory state within the ovaries can disrupt normal follicular dynamics, leading to reduced oocyte quality and infertility. Inflammatory genes expressed by human granulosa cells (hGCs), such as cyclooxygenase-2 (COX-2) and 5-, 12-, and 15-lipoxygenase (LOX), may be useful as potential effective biomarkers of oocyte competence with pregnancy outcome. How the production of inflammatory mediators generated by polarized macrophages might activate inflammatory pathways in hGCs remains unclear.
Methods
In this study, we evaluated how polarized M1 and M2 macrophages found in the ovaries affect the functions of hGCs isolated from women undergoing assisted reproductive technology. For this purpose, an indirect co-culture model was established between hGCs and conditioned media of M0, M1 and M2. We used real-time PCR and western blotting to detect the expression of COX-2 and 5-, 12-, and 15-LOX as biomarkers of oocyte competence.
Results
Our data showed that polarized M2 macrophages with anti-inflammatory characteristics were able to significantly increase the expression of COX-2 in hGCs. We also demonstrated that polarized M1 macrophages with pro-inflammatory characteristics were able to significantly increase the expression of 12-LOX in hGCs. However, there was no observed expression of 5-LOX and no significant alteration in the expression of 15-LOX in hGCs.
Conclusions
Our research indicated that the production of pro-resolving mediators by hGCs can, at least in part, reverse the physiological inflammation present in the ovaries, and the studied enzymes may be used in the future as biomarkers of oocyte competence.
A comparison of NAFLD and MAFLD diagnostic criteria in contemporary urban healthy adults in China
Authors: Liu Qiling , Zhao Gang , Li Qian , Wu Weiyun , Zhang Yan , Bian Hua 
Published: June 2022

Abstract
Background
A new definition of metabolic dysfunction-associated fatty liver disease (MAFLD) is more suitable for various clinical situations than non-alcoholic fatty liver disease (NAFLD), but the understanding of MAFLD prevalence and the characteristics of examination results is still limited in the general adult urban population in China.
Methods
795 subjects who participated in the health check were recruited from Wu Song Branch of Zhongshan Hospital, of which 369 were diagnosed with fatty liver disease by abdominal ultrasonography. Through questionnaire survey and analysis of blood samples, the information of examination results can be obtained.
Results
Among the 795 people investigated, there was no significant difference in the detection rate, age, BMI, FBG, HbA1c, blood lipid profile, liver enzyme examination, percentage of overweight, diabetes, hypertension and dyslipidemia between NAFLD and MAFLD. Patients with MAFLD had worse metabolic disorders and insulin resistance than NAFLD patients without overlapping MAFLD. NFS in MALFD patients non-overlapping NAFLD was significantly lower than that in NAFLD patients non-overlapping MAFLD.
Conclusions
Compared with the definition of NAFLD, the MAFLD criteria is highly consistent, but it can identify a group of people with high risk of metabolic disorders and liver fibrosis who have not been diagnosed with NAFLD due to excessive drinking or other chronic liver diseases.
Effects of heat shock therapy on the maintenance of the heat shock response of young adult and aged female mice
Authors: Müller Henrique Ribeiro , Schroeder Helena Trevisan , Miragem Antônio Azambuja , de Bittencourt Paulo Ivo Homem 
Published: June 2022

Abstract
Menopause is an event resulting from the natural aging of the female organism, in which there is ovarian failure that, consequently, leads to hypoestrogenism. With the gradual decrease of estrogen (E2) levels, women become more susceptible to developing low-grade chronic inflammation. Low levels of E2 reduce the expression of genes that affect the balance between energy expenditure and consumption, in addition to negatively affecting carbohydrate and lipid metabolism. On the other hand, E2 has the ability to induce the expression of the HSP72 protein, one of the members of the 70 kDa family of heat shock proteins, which are anti-inflammatory and cytoprotective, and whose expression is modulated by different types of physiologically stressful situations, including heat stress. Therefore, during perimenopause, various homeostatic functions based on E2-dependent expression of HSP70 may collapse. In this study, we investigated the effects of aging in female mice, focusing on E2-mediated nitric oxide (NO)-induced heat shock response (HSR). We used female mice of the C57BL/6J strain: young (4 months) and aged (16 months) adult animals, being submitted to the following treatments: HS (heat shock treatment for 2 months once a week = 8 sessions with anesthesia) or SHAM (animals kept at room temperature and anesthetized only). We observed that, with regard to the muscular HSP70 content in the gastrocnemius muscle of adult and naturally aged females, there was a 59 % increase in the HS group as compared to the SHAM group in adult females; in the group of aged females, there was a 77 % increase in the HS group compared to the SHAM group (p=0.0341). Still with regard to HSP70 expression, we found a marked difference (p=0.0047) between the different ages of the animals that received the HS, indicating a more accentuated increase in the muscular concentrations of this protein in the aged females. As an effect of HS, we also observed an increase in 17β-Estradiol concentrations compared to the SHAM group (p=0.0467), being 83 % in the HS group (4 months) and 80 % in the HS group (16 months). In total, the results suggest a potential use of HS therapy as an alternative to hormone replacement therapy (HRT), especially its long-term safety has already been questioned. In addition, there are possible protective effects that are being re-established by the HSR pathway, until then suppressed due to the effects of aging/natural menopause of female metabolism, which reduces the metabolic capacity, among other effects, to maintain the hormonal status necessary for cytoprotective levels known.
Spinal voltage-gated potassium channel Kv1.3 contributes to neuropathic pain via promotion of microglial M1 polarization and activation of the NLRP3 inflammasome
Authors: xiaoman Yuan , Han Siyi , Manyande Anne , Gao Feng , Wang Jie , Zhang Wen , TIan Xuebi 
Published: June 2022

Abstract
Background: Studies have shown that activation of microglia is the main mechanism of neuropathic pain. Kv1.3 channel is a novel therapeutic target for treating neuroinflammatory disorders due to its crucial role in subsets of microglial cells. As such, it may be involved in the processes of neuropathic pain, however, whether Kv1.3 plays a role in neuroinflammation following peripheral nerve injury is unclear.Methods: The spared nerve injury model (SNI) was used to establish neuropathic pain. Western blot and immunofluorescence were used to examine the effect of Kv1.3 in the SNI rats. PAP-1, a Kv1.3 specific blocker was administered to alleviate neuropathic pain in the SNI rats.Results: Neuropathic pain and allodynia occurred after SNI, the levels of M1 (CD68, iNos) and M2 (CD206, Arg-1) phenotypes were up-regulated in the spinal cord, and the protein levels of NLRP3, caspase-1 and IL-1β were also increased. Pharmacological blocking of Kv1.3 with PAP-1 alleviated hyperpathia induced by SNI. Meanwhile, intrathecal injection of PAP-1 reduced M1 polarization and decreased NLRP3, caspase-1, and IL-1β expressions of protein levels.Conclusion: Our research indicates that the Kv1.3 channel in the spinal cord contributes to neuropathic pain by promoting microglial M1 polarization and activating the NLRP3 inflammasome.