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Cancer syndrome

Siliang Xu, Ping Duan, Jinping Li, Tristan Senkowski, Fengbiao Guo, Haibin Chen, Alberto Romero, Yugui Cui, Jiayin Liu, Shi-Wen Jiang
SET (SE Translocation) protein carries out multiple functions including those for protein phosphatase 2A (PP2A) inhibition, histone modification, DNA repair, and gene regulation. SET overexpression has been detected in brain neurons of patients suffering Alzheimer's disease, follicle theca cells of Polycystic Ovary Syndrome (PCOS) patients, and ovarian cancer cells, indicating that SET may play a pathological role for these disorders. SET transcript 2, produced by a specific promoter, represents a major transcript variant in different cell types...
October 20, 2016: International Journal of Molecular Sciences
Dong Hoon Suh, Miseon Kim, Hak Jae Kim, Kyung Hun Lee, Jae Weon Kim
In 2015, fourteen topics were selected as major research advances in gynecologic oncology. For ovarian cancer, high-level evidence for annual screening with multimodal strategy which could reduce ovarian cancer deaths was reported. The best preventive strategies with current status of evidence level were also summarized. Final report of chemotherapy or upfront surgery (CHORUS) trial of neoadjuvant chemotherapy in advanced stage ovarian cancer and individualized therapy based on gene characteristics followed...
November 2016: Journal of Gynecologic Oncology
Pedro Casado, Maruan Hijazi, David Britton, Pedro R Cutillas
Signalling pathways driven by protein and lipid kinases are altered in most human diseases. Therefore, pharmacological inhibitors of cell signalling are one of the most intensively pursued therapeutic approaches for the treatment of diseases such as cancer, neurodegeneration and metabolic syndromes. Phosphoproteomics is a technique that measures the products of kinase activities and, with the appropriate bioinformatics techniques, the methodology can also provide measures of kinase pathway activation and network circuitry...
October 24, 2016: Proteomics
Shizhong Ke, Shuzhen Chen, Zihui Dong, Christopher S Hong, Qi Zhang, Liang Tang, Pinghua Yang, Jian Zhai, Hexin Yan, Feng Shen, Zhengping Zhuang, Wen Wen, Hongyang Wang
: Erythrocytosis is a common paraneoplastic syndrome associated with hepatocellular carcinoma (HCC). Although increased erythropoietin (EPO) is found in these patients, the clinical significance and molecular mechanisms underlying this observation are unclear. Here we demonstrated an inverse relationship between EPO production and overall prognosis in our cohort of 664 patients as well as in data from The Cancer Genome Atlas (TCGA). In the subset of HCC patients with erythrocytosis, we identified somatic mutations of mitochondrial DNA, resulting impairment of respiratory metabolism, which sequentially led to depletion of α-ketoglutarate, stabilization of hypoxia inducible factor-α and expression of target genes such as EPO...
October 24, 2016: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
Bo Wang, Shannon J Walsh, Muhammad W Saif
5-Fluorouracil (5-FU) is one of the most commonly used chemotherapeutic agents in solid tumors, including colon, gastric and breast cancers. The pharmacogenetic syndrome of dihydropyrimidine dehydrogenase (DPD) deficiency leading to severe toxicity after administration of 5-flourouracil (5-FU) and capecitabine has been well-recognized. However, the data about the association of the target enzyme, thymidylate synthase (TYMS) with the toxicity of these agents is limited. A 50-year-old Caucasian woman with T2N2M0 Stage IIIB squamous cell rectal cancer after local surgical excision initiated 5-FU therapy with mitomycin-C and radiation therapy in the adjuvant setting...
September 21, 2016: Curēus
Vasileios Charalampakis, Abd A Tahrani, Ahmed Helmy, Janesh K Gupta, Rishi Singhal
One of the most effective methods to tackle obesity and its related comorbidities is bariatric surgery. Polycystic ovary syndrome (PCOS) and endometrial hyperplasia (EH), which are associated with increased risk of endometrial carcinoma, have been identified as potentially new indications for bariatric surgery. PCOS is the most common endocrine disorder in women in the reproductive age and is associated with several components of the metabolic syndrome such as obesity, insulin resistance and hypertension. EH is a pre-cancerous condition which arises in the presence of chronic exposure to estrogen unopposed by progesterone such as both in PCOS and obesity...
October 17, 2016: European Journal of Obstetrics, Gynecology, and Reproductive Biology
Yohei Shirakami, Hiroyasu Sakai, Takahiro Kochi, Mitsuru Seishima, Masahito Shimizu
The mechanisms of action of polyphenols have attracted much attention. Catechins are generally known as tea polyphenols. Researchers have extensively investigated the molecular mechanisms of these substances, especially (-)-epigallocatechin gallate of green tea catechin, and have provided new insights in the prevention and therapy for chronic diseases. This chapter summarizes catechins and their effects on chronic diseases, including metabolic syndromes, cardiovascular diseases, neurodegenerative diseases, and cancer, focusing on the effects of green tea catechins...
2016: Advances in Experimental Medicine and Biology
Hiroko Narumi, Shunji Hasegawa, Kazuyuki Waki, Ken Fukuda, Yuji Ohnishi, Takuya Ichimura, Yousuke Fujimoto, Shunsaku Katsura, Hiroo Kawano, Eiji Ikeda, Satoshi Okada, Shouichi Ohga
Adrenocortical carcinoma (ACC) is a rare malignancy in childhood. Affected children with ACC mostly present with virilization, but not the pure form of Cushing's syndrome. A 9-year-old Japanese girl was hospitalized, because of the unstable emotions and excessive weight gain. She was diagnosed as having Cushing's syndrome and a left adrenal tumor. The adrenalectomy led to the pathological diagnosis of ACC without metastasis. There was no mutation of PRKACA in the tumor-derived DNA, or p53 in peripheral blood-derived DNA...
October 24, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
Matthias Groh, Laura Oana Albulescu, Agnese Cristini, Natalia Gromak
R-loops comprise an RNA/DNA hybrid and displaced single-stranded DNA. They play crucial biological functions and are implicated in neurological diseases, including ataxias, amyotrophic lateral sclerosis, nucleotide expansion disorders (Friedreich ataxia, Fragile X syndrome) and cancer. Currently it is unclear which mechanisms cause R-loops structures to become pathogenic. The RNA/DNA helicase Senataxin (SETX) is one of the best characterised R-loop-binding factors in vivo. Mutations in SETX are linked to two neurodegenerative disorders: ataxia with oculomotor apraxia type 2 (AOA2) and amyotrophic lateral sclerosis type 4 (ALS4)...
October 19, 2016: Journal of Molecular Biology
Valentina Decimi, Grazia Fazio, Fabiola Dell'Acqua, Silvia Maitz, Marta Galbiati, Carmelo Rizzari, Andrea Biondi, Giovanni Cazzaniga, Angelo Selicorni
Williams syndrome (WBS) is a rare neurodevelopmental disorder with specific phenotypic characteristics and cardiac abnormalities, but is not considered as a cancer predisposing condition. However, in rare cases, malignancies have been described in patients with WBS, with hematologic cancer (mainly Burkitt Lymphoma and Acute Lymphoblastic Leukemia) as the most represented. We report here the case of a boy with WS and B-NHL. This is the unique case within the large cohort of patients (n = 117) followed in our institution for long time (mean clinical follow-up, 13 years)...
October 19, 2016: European Journal of Medical Genetics
Ruifeng Liu, Xueping Yu, Anders Wallqvist
Chemical toxicity is conventionally evaluated in animal models. However, animal models are resource intensive; moreover, they face ethical and scientific challenges because the outcomes obtained by animal testing may not correlate with human responses. To develop an alternative method for assessing chemical toxicity, we investigated the feasibility of using chemical-induced genome-wide expression changes in cultured human cells to predict the potential of a chemical to cause specific organ injuries in humans...
October 21, 2016: Chemical Research in Toxicology
Yong-Sik Bong, Shahin Assefnia, Therese Tuohy, Deborah W Neklason, Randall W Burt, Jaeil Ahn, Hao-Wen J Jiang, Stephen W Byers
Vitamin D is implicated in the etiology of cancers of the gastrointestinal tract, usually characterized by alteration in the APC/β-catenin/TCF tumor suppressor pathway. The vitamin D receptor (VDR) is also implicated in cardiovascular and skin diseases as well as in immunity. Activated VDR can indirectly alter β-catenin nuclear localization and directly suppress β-catenin/TCF mediated transcriptional activity. We treated VDR null mice with the carcinogen azoxymethane (AOM) and generated mice bearing a mutated APC (hypomorph) on a VDR null background (Apc1638N/+Vdr-/-)...
October 19, 2016: Oncotarget
Saamir A Hassan, Syed Wamique Yusuf, Jyoti Sharma, Jasmine Khan, Michele Guindani, Vicente Valero, Mariana Chavez-McGregor, Jose Banchs
OBJECTIVES: To identify unique echocardiographic features that could be used to reliably predict LVEF recovery upon resolution of sinus tachycardia in patients with cancer. BACKGROUND: Sinus tachycardia may be a manifestation of underlying cardiomyopathy or can lead to a reversible form of dilated cardiomyopathy known as tachycardia-mediated cardiomyopathy. While distinguishing the two can be challenging, predicting recovery regardless of cause can be of significant clinical importance in the cancer population...
October 21, 2016: Echocardiography
Brody Holohan, Wanil Kim, Tsung-Po Lai, Hirotoshi Hoshiyama, Ning Zhang, Anas M Alazami, Woodring E Wright, M Stephen Meyn, Fowzan S Alkuraya, Jerry W Shay
BACKGROUND: Loss of function in genes required for telomere maintenance result in disorders known as telomeropathies, which are characterized by a pattern of symptoms including generalized and specific lymphocytopenias as well as very short telomere length and disease anticipation. METHODS: Because human LARP7 is the most likely ortholog of the Tetrahymena p65 protein, which is required for telomerase activity in that organism, we investigated the effects of LARP7 silencing in human cells as well as in two distinct families with Alazami syndrome (loss of function of LARP7)...
October 17, 2016: BMC Genomics
Sundhar Ramalingam, Adva Eisenberg, Wen Chi Foo, Jennifer Freedman, Andrew J Armstrong, Larry G Moss, Michael R Harrison
Here we present, to the best of our knowledge, the first case of a paraneoplastic Cushing's syndrome (hypercortisolism) resulting from treatment-related neuroendocrine prostate cancer - a highly aggressive and difficult disease to treat. A 51-year-old man was started on androgen deprivation therapy after presenting with metastatic prostate cancer, characterized by diffuse osseous metastasis. Shortly thereafter, he developed progressive disease with biopsy proven neuroendocrine prostate cancer as well as symptoms of increased skin pigmentation, hypokalemia, hypertension, hyperglycemia and profound weakness, consistent with ectopic Cushing's syndrome...
October 21, 2016: International Journal of Urology: Official Journal of the Japanese Urological Association
Tae Jun Kim, Eun Ran Kim, Sung Noh Hong, Young-Ho Kim, Jung Wook Huh, Yoon Ah Park, Yong Beom Cho, Seong Hyeon Yun, Hee Cheol Kim, Woo Yong Lee, Kiyoun Kim, Kyunga Kim, Dong Kyung Chang
BACKGROUND: The survival benefit of extensive colectomy is controversial in Lynch syndrome, and risk factors for metachronous colorectal cancer (CRC) after segmental colectomy are unclear. OBJECTIVE: The aim of this study was to investigate the survival outcome and risk of metachronous CRC after surgery in Lynch syndrome patients diagnosed with their first CRC. METHODS: Overall, 106 patients with Lynch syndrome who underwent surgery for CRC were included in the study...
October 20, 2016: Annals of Surgical Oncology
L-C Horn, C E Brambs, R Handzel, S Lax, I Sändig, D Schmidt, K Schierle
The World Health Organization (WHO) classification from 2014 differentiates between different subtypes of mucinous adenocarcinoma of the uterine cervix. A gastric subtype was recently described that showed no association with high-risk human papillomavirus (HPV) infections, has a poor prognosis, is mainly diagnosed in women of Asian origin and can occur in patients with Peutz-Jeghers syndrome. Although no clear grading system has been recommended in the WHO classification, it is likely that grading of adenocarcinomas of the uterine cervix will partly be based on the different patterns of invasion...
October 20, 2016: Der Pathologe
Lai Heng Lee
The group of new oral anticoagulants or NOACs, now termed direct oral anticoagulants or DOACs, with their favourable results from large scale phase III clinical trials, represent a major advancement and expanded armamentarium in antithrombotic therapy. Dabigatran, rivaroxaban, apixaban and edoxaban are now in clinical routine use for prevention and treatment of arterial and venous thrombotic diseases as addressed in their clinical trials. Usage of the DOACs is expected to increase as clinicians gain more experience and reassurance with data from the real world studies which are generally consistent with that from clinical trials...
2016: Thrombosis Journal
Shearwood McClelland, Joseph F Baker, Justin S Smith, Breton G Line, Thomas J Errico, Christopher P Ames, R Shay Bess
Parkinson's disease (PD) is a neurodegenerative disorder manifesting over time to result in reduced mobility. The impact of PD on spinal fusion has yet to be addressed on a nationwide level. The Nationwide Inpatient Sample (NIS) from 2001 to 2012 was used for analysis. Admissions with spinal fusion of two or more vertebrae (ICD-9 codes=81.62, 81.63 and 81.64) were included and then stratified based on the presence or absence of PD (ICD-9 code=332.0); patients with cancer (ICD-9 codes=140-239) or trauma (ICD-9 codes=805...
October 17, 2016: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
Karl Patterson, Lovleen Arya, Sarah Bottomley, Susan Morgan, Angela Cox, James Catto, Helen E Bryant
RECQ helicases are a family of enzymes with both over lapping and unique functions. Functional autosomal recessive loss of three members of the family BLM, WRN and RECQL4, results in hereditary human syndromes characterized by cancer predisposition and premature aging, but despite the finding that RECQL5 deficient mice are cancer prone, no such link has been made to human RECQL5. Here we demonstrate that human urothelial carcinoma of the bladder (UCC) has increased expression of RECQL5 compared to normal bladder tissue and that increasing RECQL5 expression can drive proliferation of normal bladder cells and is associated with poor prognosis...
October 15, 2016: Oncotarget
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