scholarly journals Case Report: MDM4 Amplified in a Thymoma Patient With Autoimmune Enteropathy and Myocarditis

2021 ◽  
Vol 12 ◽  
Author(s):  
Xin Du ◽  
Lei Yu ◽  
Fei Li ◽  
Zhen Yu ◽  
Xing-guo Yang ◽  
...  
Keyword(s):  
Autoimmune Diseases ◽  
Malignant Tumors ◽  
Tumor Resection ◽  
Treatment Method ◽  
Case Presentation ◽  
Autoimmune Enteropathy ◽  
Whole Exome ◽  
Sensitivity Tests ◽  
Highly Sensitive

IntroductionThymoma is a type of mediastinal malignant tumors which always associated with autoimmune diseases. Although surgery is the predominant treatment method for thymoma, the pathogenesis of thymoma and thymoma-associated autoimmune diseases is still unknown. However, the case study here provided a possible pathogenesis and treatment to cure the thymoma with autoimmune enteropathy and myocarditis.Case presentationA thymoma case with autoimmune enteropathy and myocarditis undergoing surgery was reported. The symptoms and laboratory results of the patient had dramatically fluctuated after tumor resection and gradually alleviated. The whole exome sequencing found MDM4 amplified in tumor cells. Immunohistochemistry indicated that thymoma cells were positive for MDM4. The result of drug sensitivity tests showed thymoma cells were highly sensitive to Nutlin-3a.ConclusionMDM4 could play an important role in the pathogenesis of this thymoma case with autoimmune enteropathy and myocarditis. This discovery may provide a novel idea of pathogenesis and treatment for thymoma and autoimmune diseases.

Die Anämie bei malignen Tumorerkrankungen

1989 ◽  
Vol 28 (06) ◽  
pp. 247-254
Author(s):  
E. Aulbert
Keyword(s):  
Malignant Tumors ◽  
Gradient Centrifugation ◽  
Tumor Resection ◽  
Hemoglobin Concentration ◽  
Limiting Factor ◽  
Novikoff Hepatoma ◽  
Tumor Mass ◽  
Lysosomal Fraction ◽  
Proliferation Activity ◽  
Morris Hepatoma

The cellular uptake and lysosomal accumulation of 67Ga-labelled transferrin within tumors of different malignancy were examined using tissue fractionation and immunological techniques. As tumor models the slowly growing Morris hepatoma 5123C, the moderately growing Novikoff hepatoma and the fast and aggressive Yoshida hepatoma AH 130 were investigated. Isolation of subcellular fractions of tumor homogenates was performed by differential centrifugation and density-gradient centrifugation. The intracellular 67Gatransferrin was found to be highly concentrated within the purified lysosomes. The transferrin within the lysosomal fraction was identified by radial immunodiffusion technique using monospecific antiserum. The accumulation of 67Gatransferrin by the tumors resulted in a faster disappearance of 67Ga-transferrin from the blood. This loss of circulating 67Ga-transferrin correlated with the proliferation activity and the spread of the tumors. Since transferrin is indispensible for the utilization of iron by the heme-synthesizing red cell precursors, transferrin concentration in the blood is the limiting factor for the utilization of iron in hemoglobin synthesis. Thus, in a further series of experiments we investigated the development of anemia in tumor-bearing rats. With increasing tumor mass a progressive fall of hemoglobin concentration was found. The anemia was more severe in the faster growing Novikoff hepatoma than in the slowly growing Morris hepatoma. The most significant reduction of hemoglobin concentration was found in the very fast growing Yoshida hepatoma. After total tumor resection hemoglobin concentration and red blood cell count normalized completely within 6-8 weeks. We conclude from these data that the uptake of transferrin by the tumor cells results in a faster disappearance of transferrin from the blood. This loss of circulating transferrin correlates with tumor mass and proliferation activity and is one of the factors responsible for the anemia seen in patients with malignant tumors.

Determinants and barriers of PV self-consumption in Spain from the perception of the installers for the promotion of distributed energy systems

2020 ◽  
pp. 153-169
Author(s):  
José Ángel Gimeno ◽  
Eva Llera Sastresa ◽  
Sabina Scarpellini
Keyword(s):  
European Union ◽  
Energy Transition ◽  
Legal Framework ◽  
Low Carbon ◽  
The European Union ◽  
Distributed Energy ◽  
Sustainable Solutions ◽  
Highly Sensitive ◽  
Transition Scenario

Currently, self-consumption and distributed energy facilities are considered as viable and sustainable solutions in the energy transition scenario within the European Union. In a low carbon society, the exploitation of renewables for self-consumption is closely tied to the energy market at the territorial level, in search of a compromise between competitiveness and the sustainable exploitation of resources. Investments in these facilities are highly sensitive to the existence of favourable conditions at the territorial level, and the energy policies adopted in the European Union have contributed positively to the distributed renewables development and the reduction of their costs in the last decade. However, the number of the installed facilities is uneven in the European Countries and those factors that are more determinant for the investments in self-consumption are still under investigation. In this scenario, this paper presents the main results obtained through the analysis of the determinants in self-consumption investments from a case study in Spain, where the penetration of this type of facilities is being less relevant than in other countries. As a novelty of this study, the main influential drivers and barriers in self-consumption are classified and analysed from the installers' perspective. On the basis of the information obtained from the installers involved in the installation of these facilities, incentives and barriers are analysed within the existing legal framework and the potential specific lines of the promotion for the effective deployment of self-consumption in an energy transition scenario.

scholarly journals Toxic Animal-Based Medicinal Materials Can Be Effective in Treating Endometriosis: A Scoping Review

Toxins ◽  
2021 ◽  
Vol 13 (2) ◽  
pp. 145
Author(s):  
Su-In Hwang ◽  
Young-Jin Yoon ◽  
Soo-Hyun Sung ◽  
Ki-Tae Ha ◽  
Jang-Kyung Park
Keyword(s):  
Side Effects ◽  
Clinical Studies ◽  
Malignant Tumors ◽  
Experimental Studies ◽  
Herbal Medicines ◽  
Treatment Method ◽  
Reproductive Age ◽  
Dependent Growth ◽  
Gynecological Disorder ◽  
Preclinical And Clinical Studies

Animal toxins and venoms have recently been developed as cancer treatments possessing tumor cell growth-inhibitory, antiangiogenesis, and proapoptotic effects. Endometriosis is a common benign gynecological disorder in reproductive-age women, and no definite treatment for this disorder is without severe side effects. As endometriosis and malignant tumors share similar characteristics (progressive, invasive, estrogen-dependent growth, and recurrence), animal toxins and venoms are thought to be effective against endometriosis. The objective of this study was to outline studies using toxic animal-based medicinal materials (TMM) as endometriosis treatment and to explore its clinical applicability. Preclinical and clinical studies using TMM were searched for in four databases from inception to October 2020. A total of 20 studies of TMM on endometriosis were included. In eight clinical studies, herbal medicines containing TMM were effective in relieving symptoms of endometriosis, with no side effects. In twelve experimental studies, the main therapeutic mechanisms of TMM against endometriosis were proapoptotic, antiangiogenesis, estrogen level-reducing, and possible anti-inflammatory effects. TMM are thus considered promising sources for the development of an effective treatment method for endometriosis. Further studies are needed to clarify the therapeutic mechanism of TMM against endometriosis and to provide sufficient grounds for clinical application.

scholarly journals A poor prognostic metastatic nongestational choriocarcinoma of the ovary: a case report and the literature review

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Kimihiro Nishino ◽  
Eiko Yamamoto ◽  
Yoshiki Ikeda ◽  
Kaoru Niimi ◽  
Toshimichi Yamamoto ◽  
...  
Keyword(s):  
Tumor Cells ◽  
Tumor Resection ◽  
Left Lung ◽  
Str Analysis ◽  
Case Presentation ◽  
Gestational Choriocarcinoma ◽  
Mucosal Cells ◽  
Malignant Germ Cell Tumor ◽  
Brain Tumor Resection ◽  
Short Tandem

Abstract Background Pure ovarian choriocarcinoma can be gestational or nongestational in origin. Nongestational pure ovarian choriocarcinoma is extremely rare and the prognosis is thought to be worse than that of the gestational type in patients with metastatic disease. We present a case of metastatic pure ovarian choriocarcinoma with poor prognosis in which the origin was identified as nongestational by DNA short tandem repeat (STR) analysis. Case presentation A nulliparous woman in her thirties with metastatic choriocarcinoma was referred to our hospital after initial treatment proved unsuccessful. Two months earlier, she had undergone brain tumor resection and histological examination confirmed choriocarcinoma. Serum human chorionic gonadotropin (hCG) concentration at initial diagnosis was 5030 IU/L. Two cycles of a combination chemotherapy regimen of methotrexate, etoposide, and actinomycin-D (MEA therapy), which is commonly used for gestational choriocarcinoma, was administered. However, the disease could not be controlled. Imaging modalities at presentation revealed tumor present in the left ovary and left lung, but not in the uterus, which led us think that the choriocarcinoma was nongestational. Bleomycin, etoposide, and cisplatin (BEP therapy) which is commonly used for nongestational choriocarcinoma (malignant germ cell tumor) and surgical resection of the uterus, bilateral ovaries, and an affected part of the left lung led to the nadir level of hCG, but the tumor relapsed and levels of hCG again increased. To investigate the origin of choriocarcinoma, we performed DNA STR analysis of tumor cells and oral mucosal cells. Analysis revealed the origin of the choriocarcinoma as nongestational, as the genotype of tumor cells entirely corresponded with that of oral mucosal cells. BEP therapy and chemotherapy regimens administered for nongestational choriocarcinoma and gestational choriocarcinoma proved ineffective, and the patient died 21 months after diagnosis of metastatic choriocarcinoma. Conclusion Metastaic nongestational pure choriocarcinoma of ovary is an extremely rare and an aggressive disease, frequently resulting in poor outcome.

scholarly journals Phenylketonuria and juvenile idiopathic arthritis: a case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Ting Ting Zhu ◽  
Jin Wu ◽  
Li Yuan Wang ◽  
Xiao Mei Sun
Keyword(s):  
Juvenile Idiopathic Arthritis ◽  
Case Report ◽  
Autoimmune Diseases ◽  
Hip Joint ◽  
Metabolic Disorder ◽  
Rare Case ◽  
Molecular Data ◽  
Methotrexate Therapy ◽  
Case Presentation

Abstract Background Phenylketonuria (PKU) is a genetic metabolic disorder in which patients have no ability to convert phenylalanine to tyrosine. Several autoimmune diseases have been reported to combine with PKU, co-existent of PKU and Juvenile Idiopathic Arthritis (JIA) has not been presented. Case presentation The girl was diagnosed with PKU at the age of 1 month confirmed by molecular data. At the age of 3.5 years, she presented with pain and swelling of her right ankle, right knee, and right hip joint. After a serial of examinations, she was diagnosed with JIA and treated with a nonsteroidal anti-inflammatory drug. Conclusions We report a rare case of a 4-year-old girl with PKU and JIA, which supports a possible interaction between PKU and JIA. Long-term metabolic disturbance may increase the susceptibility to JIA. Further chronic inflammation could alter the metabolism of tryptophan and tyrosine to increase blood Phe concentration. In addition, corticosteroid and methotrexate therapy for JIA may increase blood Phe concentration.

scholarly journals Neither a Novel Tau Proteinopathy nor an Expansion of a Phenotype: Reappraising Clinicopathology-Based Nosology

2021 ◽  
Vol 22 (14) ◽  
pp. 7292
Author(s):  
Luca Marsili ◽  
Jennifer Sharma ◽  
Alberto J. Espay ◽  
Alice Migazzi ◽  
Elhusseini Abdelghany ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia Type ◽  
Niemann Pick Disease ◽  
Whole Exome ◽  
Heterozygous Variant ◽  
History Of ◽  
Ataxia Syndrome ◽  
Niemann Pick

The gold standard for classification of neurodegenerative diseases is postmortem histopathology; however, the diagnostic odyssey of this case challenges such a clinicopathologic model. We evaluated a 60-year-old woman with a 7-year history of a progressive dystonia–ataxia syndrome with supranuclear gaze palsy, suspected to represent Niemann–Pick disease Type C. Postmortem evaluation unexpectedly demonstrated neurodegeneration with 4-repeat tau deposition in a distribution diagnostic of progressive supranuclear palsy (PSP). Whole-exome sequencing revealed a new heterozygous variant in TGM6, associated with spinocerebellar ataxia type 35 (SCA35). This novel TGM6 variant reduced transglutaminase activity in vitro, suggesting it was pathogenic. This case could be interpreted as expanding: (1) the PSP phenotype to include a spinocerebellar variant; (2) SCA35 as a tau proteinopathy; or (3) TGM6 as a novel genetic variant underlying a SCA35 phenotype with PSP pathology. None of these interpretations seem adequate. We instead hypothesize that impairment in the crosslinking of tau by the TGM6-encoded transglutaminase enzyme may compromise tau functionally and structurally, leading to its aggregation in a pattern currently classified as PSP. The lessons from this case study encourage a reassessment of our clinicopathology-based nosology.

scholarly journals Correctable biliary atresia and cholangiocarcinoma: a case report of a 63-year-old patient

2019 ◽  
Vol 5 (1) ◽  
Author(s):  
Masaki Nio ◽  
Motoshi Wada ◽  
Hideyuki Sasaki ◽  
Hiromu Tanaka ◽  
Masatoshi Hashimoto ◽  
...  
Keyword(s):  
Biliary Atresia ◽  
Liver Tumors ◽  
Malignant Tumors ◽  
Porta Hepatis ◽  
Case Presentation ◽  
Cancer Occurrence ◽  
Long Term Survivors ◽  
Near Future

Abstract Background Although cancer occurrence following surgery for biliary atresia has gradually increased, the development of cholangiocarcinoma in a native liver survivor of biliary atresia is extremely rare. Case presentation A 3-month-old female patient with the correctable type of biliary atresia underwent a cystoduodenostomy. At 16 years of age, she underwent multiple surgeries including lysis of intestinal adhesions, ileostomy, and gastrojejunostomy at another hospital. At 54 years of age, she underwent lithotomy at the porta hepatis, resection of the residual cystic bile duct with gallbladder, and hepaticojejunostomy in Roux-en-Y fashion. As she approached the age of 63, her computed tomography scan showed no liver tumors. In the following year, she developed cholangiocarcinoma at the porta hepatis and underwent chemotherapy. However, the cancer progressed, and she died before she reached the age of 64 years. Conclusions Cholangiocarcinoma is extremely rare in patients with biliary atresia. However, physicians should follow up patients with biliary atresia as closely as possible, as malignant tumors secondary to biliary atresia may increase in number in the near future because of the growing number of long-term survivors with biliary atresia.

BRAF-MAD1L1 and BRAF-ZC3H7A: novel gene fusion in Rhabdomyosarcoma and Lung adenocarcinoma

2021 ◽  
Author(s):  
Jiang Da ◽  
Hui Jin ◽  
Xinliang Zhou ◽  
Shaoshuang Fan ◽  
Mian Xu ◽  
...  
Keyword(s):  
Lung Adenocarcinoma ◽  
Gene Fusion ◽  
Tumor Resection ◽  
Kinase Domain ◽  
Rapid Progression ◽  
First Line ◽  
Case Presentation ◽  
First Case ◽  
Exon 11 ◽  
Domain Exon

Abstract Background: Rhabdomyosarcoma (RMS) and lung adenocarcinoma (LADC) epitomizes the success of cancer prevention by the development of conventional therapy, but huge challenges remain in the therapy of advanced diseases.Case presentation: We reported two cases of novel BRAF gene fusion. The first case was a 34-year-old female with RMS harboring a BRAF-MAD1L1 fusion. She suffered tumor resection, recurrence and rapid progression. The second case was a 72-year-old female with LADC harboring a BRAF-ZC3H7A fusion, and she gained rapid progression after receiving a first-line course of chemotherapy.Conclusions: These two BRAF fusions retain the intact BRAF kinase domain (exon 11-18) and showed poor prognosis in RMS and LADC.

scholarly journals Prenatal Diagnosis of Holt–Oram Syndrome With a Novel Mutation of TBX5 Gene: A Case Report

2021 ◽  
Vol 9 ◽  
Author(s):  
Guan-nan He ◽  
Xue-yan Wang ◽  
Min Kang ◽  
Xi-min Chen ◽  
Na Xi ◽  
...  
Keyword(s):  
Septal Defect ◽  
Autosomal Dominant ◽  
Novel Mutation ◽  
Splice Donor ◽  
Autosomal Dominant Disorder ◽  
Cubitus Valgus ◽  
Case Presentation ◽  
Whole Exome ◽  
The Right ◽  
Tbx5 Gene

Background: Holt–Oram syndrome (HOS) is an autosomal dominant disorder caused by mutations of TBX5 gene.Case presentation: We report a fetus with HOS diagnosed sonographically at 23 weeks of gestation. The fetal parents are non-consanguineous. The fetus exhibited short radius and ulna, inability to supinate the hands, absence of the right thumb, and heart ventricular septal defect (VSD), while the fetal father exhibited VSD and short radius and ulna only. Fetal brother had cubitus valgus and thumb adduction, except for VSD, short radius and ulna. The pregnancy was terminated. Whole-exome sequencing (WES) revealed a novel mutation in the TBX5 (c.510+1G>A) in the fetus inherited from the father. The variant (c.510+1G>A) occurs at splice donor and may alter TBX5 gene function by impact on splicing. It was not previously reported in China.Conclusion: Our case reported a novel mutation in TBX5, which expanded the known genetic variants associated with HOS.

scholarly journals Diagnosis of Non-Small Cell Lung Cancer via Liquid Biopsy Highlighting a Fluorescence-in-situ-Hybridization Circulating Tumor Cell Approach

2021 ◽  
Author(s):  
Xin Ye ◽  
Xiao Zheng Yang ◽  
Roberta Carbone ◽  
Iris Barshack ◽  
Ruth L. Katz
Keyword(s):  
Lung Cancer ◽  
Liquid Biopsy ◽  
New Technologies ◽  
Malignant Tumors ◽  
Circulating Tumor Cell ◽  
Surgical Biopsy ◽  
Diagnosis And Management ◽  
Highly Sensitive ◽  
Risk Patients ◽  
Molecular Landscape

Lung cancer (LC), is the most common and lethal cancer worldwide. It affects both sexes and in its early stages is clinically silent, until it reaches a more advanced stage, when it becomes highly incurable. In order to improve the high mortality associated with LC there has been an urgent need for screening high risk patients by low dose CT scan (LDCT) for the early detection of small resectable malignant tumors. However, while highly sensitive to detect small lung nodules, LDCT is non-specific, resulting in a compelling need for a complementary diagnostic tool. For example, a non-invasive blood test or liquid biopsy, (LB), could prove quite useful to confirm a diagnosis of malignancy prior to definitive therapy. With the advent of LB becoming increasingly clinically accepted in the diagnosis and management of LC, there has been an explosion of publications highlighting new technologies for the isolation of and detection of circulating tumor cells (CTCs) and cell free tumor DNA (cfDNA). The enormous potential for LB to play an important role in the diagnosis and management of LC to obtain valuable diagnostic information via an approach that may yield equivalent information to a surgical biopsy, regarding the presence of cancer and its molecular landscape is described.

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