Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis–Cacchione Syndrome and a Novel XPC Mutation by Esteban Uribe-Bojanini, Sara Hernandez-Quiceno, Alicia María Cock-Rada

“…Several genetic disorders caused by defective nucleotide excision repair that affect the skin and the nervous system have been described, including Xeroderma Pigmentosum (XP), De Sanctis–Cacchione syndrome (DSC), Cockayne syndrome, and Trichothiodystrophy. …”
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Diagnosis and Treatment of Mucinous Appendiceal Neoplasm Presented as Acute Appendicitis by Ioannis Kehagias, Apollon Zygomalas, Georgios Markopoulos, Thanasis Papandreou, Pantelis Kraniotis

“…Appendiceal mucocele is a rare cause of acute abdomen. Mucinous appendiceal neoplasms represent 0.2–0.7% of all appendix specimens. …”
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Multiple Low Energy Long Bone Fractures in the Setting of Rothmund-Thomson Syndrome by Nicholas Beckmann

“…Presented is a case of a young adult male with Rothmund-Thomson syndrome presenting with multiple episodes of long bone fractures caused by low energy trauma with one of the fractures exhibiting significantly delayed healing. …”
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Etiology and Prognosis of Cardiogenic Shock in a Secondary Center without Surgical Back-Up by Laurent Bonello, Marc Laine, Etienne Puymirat, Victoria Ceccaldi, Mélanie Gaubert, Franck Paganelli, Pr Franck Thuny, Thibaut Dabry, Guillaume Schurtz, Clement Delmas, Julien Mancini, Gilles Lemesle

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A Diagnostic Dilemma: Waldenström's Macroglobulinemia/Plasma Cell Leukemia by Bhawna Sethi, K. S. Butola, Yogesh Kumar

“…It is an uncommon disease with overall incidence of approximately 3 per million persons per year, accounting for approximately 1% to 2% of all hematologic cancers. It has only one-sixth the estimated prevalence of plasma cell myeloma. …”
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Metallic and Microbial Contaminants in Drinking Water of Cankiri, Turkey by Emrah Caylak, Mustafa Tokar

“…These are undesirable substances dangerous to human health and cause chronic diseases and various cancers. Coliform bacteria are a commonly used bacterial indicator of sanitary quality of water. …”
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Mucosal Epithelial Jak Kinases in Health and Diseases by Narendra Kumar, Longxiang Kuang, Ryan Villa, Priyam Kumar, Jayshree Mishra

“…Mutations that abrogate Jak3 functions cause an autosomal severe combined immunodeficiency disease (SCID) while activating Jak3 mutations lead to the development of hematologic and epithelial cancers. …”
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Arsenic Contamination of Groundwater: A Review of Sources, Prevalence, Health Risks, and Strategies for Mitigation by Shiv Shankar, Uma Shanker, Shikha

“…Arsenic poisoning culminates into potentially fatal diseases like skin and internal cancers. This paper reviews sources, speciation, and mobility of As and global overview of groundwater As contamination. …”
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The Legal System of Gene Therapy Contracts by Dr. Muhannad Othman Khudair

“…Most genetic diseases are caused by defective recessive genes, which can be replaced with healthy genes that perform the same function as the defective ones. …”
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Better understanding the phenotypic effects of drugs through shared targets in genetic disease networks by Elena Díaz-Santiago, Aurelio A. Moya-García, Jesús Pérez-García, Raquel Yahyaoui, Raquel Yahyaoui, Christine Orengo, Florencio Pazos, James R. Perkins, James R. Perkins, James R. Perkins, Juan A. G. Ranea, Juan A. G. Ranea, Juan A. G. Ranea, Juan A. G. Ranea

“…The top results include phenotype-drug associations that represent intended effects, particularly for cancers such as chronic myelogenous leukemia, which was linked with nilotinib. …”
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Effect of His-Tag on Expression, Purification, and Structure of Zinc Finger Protein, ZNF191(243-368) by Dongxin Zhao, Zhongxian Huang

“…Zinc finger proteins are associated with hereditary diseases and cancers. To obtain an adequate amount of zinc finger proteins for studying their properties, structure, and functions, many protein expression systems are used. …”
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Hypoxia-induced circPLOD2a/b promotes the aggressiveness of glioblastoma by suppressing XIRP1 through binding to HuR by Aixin Yu, Yiqi Wang, Chao Duan, Jun Qin, Miaomiao Liao, Haiyan Zhu, Junrong Lei, Jun Liu, Zehao Yang, Li Yu, Hui Gui, Jinxin Xin, Weiwei Tao, Wendai Bao, Zhiqiang Dong

“…Circular RNAs (circRNAs) are identified as regulators in cancers. However, the role of circRNAs in GBM remains elusive. …”
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Gamma Knife Radiosurgery Treatment for Metastatic Melanoma of the Trigeminal Nerve and Brainstem: A Case Report and a Review of the Literature by Halloran E. Peterson, Erik W. Larson, Robert K. Fairbanks, Wayne T. Lamoreaux, Alexander R. Mackay, Jason A. Call, John J. Demakas, Barton S. Cooke, Christopher M. Lee

“…Brainstem metastases (BSMs) are uncommon but serious complications of some cancers. They cause significant neurological deficit, and options for treatment are limited. …”
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Novel Pt (II) Complexes With Anticancer Activity Against Pancreatic Ductal Adenocarcinoma Cells by Erika Stefàno, Gianluca Rovito, Luca G. Cossa, Federica De Castro, Viviana Vergaro, Asjad Ali, Giulia My, Danilo Migoni, Antonella Muscella, Santo Marsigliante, Michele Benedetti, Francesco Paolo Fanizzi

“…Pancreatic ductal adenocarcinoma (PDAC) is a highly aggressive type of solid tumor that is becoming more common. cis-[PtCl2 (NH3)2] (in short cisplatin or CDDP) has been shown to be effective in treating various cancers, including PDAC. However, the development of resistance to chemotherapy drugs has created a need for the synthesis of new anticancer agents. …”
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How Hippo Signaling Pathway Modulates Cardiovascular Development and Diseases by Wenyi Zhou, Mingyi Zhao

“…Cardiovascular disease remains the leading cause of death around the globe. Cardiac deterioration is associated with irreversible cardiomyocyte loss. …”
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Hubungan antara Rasio Neutrofil Terhadap Limfosit Preterapi dengan Angka Harapan Hidup Pasien Karsinoma Nasofaring di RSUD Abdoel Wahab Sjahranie Tahun 2018 by Nabiella Hasti Aulia, Hadi Irawiraman, Eva Susanti

“…Nasopharyngeal carcinoma is a malignancy that originates from the epithelial tissues lining the nasopharynx and is considered one of the most common malignant cancers which cause mortality in Indonesia. Neutrophils and lymphocytes are the first lines to provide body immunity against foreign substances. …”
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Decision-making in clinical diagnostic for brain tumor detection based on advanced machine ‎learning algorithm‎ by Huang Tangsen, Yin Xiangdong, Jiang Ensong

“…Brain tumors, abnormal growths in the brain or spinal canal, can be benign or malignant, causing symptoms like headaches, seizures, and cognitive decline by disrupting brain function. …”
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Keratoacanthoma of the Nasal Septum Secondary to Ranibizumab Use by Jason E. Cohn, Hilary M. Caruso Sales, Giang Huong Nguyen, Harvey Spector, Kenneth Briskin

“…Despite ranibizumab not being directly linked to precancerous and cancerous skin lesions, agents in this medication class have been. …”
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Impact of Vitamin D on Skin Aging, and Age-Related Dermatological Conditions by Sankalya S. Ambagaspitiya, Gayan A. Appuhamillage, Sunil J. Wimalawansa

“…In contrast, extrinsic factors associated with advanced age, primarily caused by exposure to ultraviolet (UV) radiation, lead to coarse wrinkles, solar elastosis, hyperkeratosis, irregular pigmentation, and skin cancers. …”
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Antioxidant and cytotoxic activities of 2-oxo-1,2,3,4-tetrahydropyrimidines by Sarosh Iqbal, Shahida Perveen, M. Iqbal Choudhary, Musarrat Jabeen, Shumaila Kiran, Faiza Qayyum, Khalid Mohammed Khan

“…Oxidative stress (OS) is an imbalance between ROS and antioxidants which is caused by increased synthesis and buildup of reactive oxygen species as well as a reduced ability to detoxify them. …”
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