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https://www.readbyqxmd.com/read/28427232/embryonic-signature-distinguishes-pediatric-and-adult-rhabdoid-tumors-from-other-smarcb1-deficient-cancers
#1
Wilfrid Richer, Julien Masliah-Planchon, Nathalie Clement, Irene Jimenez, Laetitia Maillot, David Gentien, Benoît Albaud, Walid Chemlali, Christine Galant, Frederique Larousserie, Pascaline Boudou-Rouquette, Amaury Leruste, Celine Chauvin, Zhi Yan Han, Jean-Michel Coindre, Pascale Varlet, Paul Freneaux, Dominique Ranchère-Vince, Olivier Delattre, Franck Bourdeaut
Extra-cranial rhabdoid tumors (RT) are highly aggressive malignancies of infancy, characterized by undifferentiated histological features and loss of SMARCB1 expression. The diagnosis is all the more challenging that other poorly differentiated cancers lose SMARCB1 expression, such as epithelioid sarcomas (ES), renal medullary carcinomas (RMC) or undifferentiated chordomas (UC). Moreover, late cases occurring in adults are now increasingly reported, raising the question of differential diagnoses and emphasizing nosological issues...
March 6, 2017: Oncotarget
https://www.readbyqxmd.com/read/28425761/adult-pilocytic-astrocytoma-of-conus-medullaris-clinical-considerations-and-review-of-the-literature
#2
José Pedro Lavrador, Edson Oliveira, José Pimentel, Sérgio Livraghi
Astrocytomas are responsible for 30% of all primitive intramedullary tumors with cervicothoracic predominance. However, only about one hundred cases of intramedullary pilocytic astrocytomas were described. The authors described the case of a 69 year-old patient presenting with a broad-base gait, bilateral pain and dysesthesia of inferior limbs with a diagnosis of an intra-axial cystic lesion centered to the conus medullaris, diagnosed as pilocytic astrocytoma of conus medullaris (PACM) after surgery. To the best of our knowledge, only two previous reports concerning PACM were made...
April 2017: CNS Oncology
https://www.readbyqxmd.com/read/28424236/hyalinizing-trabecular-tumour-of-the-thyroid-fine-needle-aspiration-cytological-diagnosis-and-correlation-with-histology
#3
REVIEW
Chiara Saglietti, Simonetta Piana, Stefano La Rosa, Massimo Bongiovanni
Hyalinizing trabecular tumour (HTT) is a rare thyroid neoplasm of follicular cell origin characterised by a trabecular growth pattern and prominent intratrabecular and intertrabecular hyalinisation. These peculiar histological features allow the prompt recognition of this neoplasm in surgical specimens. However, cytological diagnosis of HTT remains elusive and misleading because of overlapping characteristics with other thyroid tumours, particularly papillary thyroid carcinoma (PTC), medullary thyroid carcinoma (MTC) and the newly described non-invasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP)...
April 19, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28424208/architecture-of-the-rat-nephron-arterial-network-analysis-with-micro-computed-tomography
#4
Donald J Marsh, Dmitry D Postnov, Douglas Rowland, Anthony S Wexler, Olga V Sosnovtseva, Niels-Henrik Holstein-Rathlou
Among solid organs the kidney's vascular network stands out because each nephron has 2 distinct capillary structures in series, and because tubuloglomerular feedback (TGF), one of the mechanisms responsible for blood flow autoregulation, is specific to renal tubules. TGF and the myogenic mechanism, acting jointly, autoregulate single nephron blood flow. Each generates a self-sustained periodic oscillation and an oscillating electrical signal that propagates upstream along arterioles. Similar electrical signals from other nephrons interact, allowing nephron synchronization...
April 19, 2017: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/28420659/very-low-expression-of-pd-l1-in-medullary-thyroid-carcinoma
#5
Massimo Bongiovanni, Caterina Rebecchini, Chiara Saglietti, Jean-Luc Bulliard, Laura Marino, Laurence De Leval, Gerasimos P Sykiotis
Monoclonal antibodies that inhibit the interaction between PD1 and PD-L1 are approved for clinical use in several cancer types, and they are also in clinical trials for additional indications, including thyroid carcinomas. A few papers have reported on PD-L1 expression in thyroid carcinomas, including a recent large study by Ahn et al. in Endocrine-Related Cancer using tissue microarrays on differentiated and anaplastic thyroid carcinoma. However, the expression of PD-L1 in medullary thyroid carcinoma (MTC) has not been reported so far, even though ongoing clinical studies aim to test the effectiveness of checkpoint inhibitors in this rare histotype as well...
April 18, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28420330/anti-mog-antibody-positive-adem-following-infectious-mononucleosis-due-to-a-primary-ebv-infection-a-case-report
#6
Yoshitsugu Nakamura, Hideto Nakajima, Hiroki Tani, Takafumi Hosokawa, Shimon Ishida, Fumiharu Kimura, Kimihiko Kaneko, Toshiyuki Takahashi, Ichiro Nakashima
BACKGROUND: Anti-Myelin oligodendrocyte glycoprotein (MOG) antibodies are detected in various demyelinating diseases, such as pediatric acute disseminated encephalomyelitis (ADEM), recurrent optic neuritis, and aquaporin-4 antibody-seronegative neuromyelitis optica spectrum disorder. We present a patient who developed anti-MOG antibody-positive ADEM following infectious mononucleosis (IM) due to Epstein-Barr virus (EBV) infection. CASE PRESENTATION: A 36-year-old healthy man developed paresthesia of bilateral lower extremities and urinary retention 8 days after the onset of IM due to primary EBV infection...
April 19, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28415767/unique-properties-of-thymic-antigen-presenting-cells-promote-epigenetic-imprinting-of-alloantigen-specific-regulatory-t-cells
#7
Garima Garg, Eirini Nikolouli, Matthias Hardtke-Wolenski, Aras Toker, Naganari Ohkura, Michael Beckstette, Takahisa Miyao, Robert Geffers, Stefan Floess, Norbert Gerdes, Esther Lutgens, Anke Osterloh, Shohei Hori, Shimon Sakaguchi, Elmar Jaeckel, Jochen Huehn
Regulatory T cells (Tregs) are potential immunotherapeutic candidates to induce transplantation tolerance. However, stability of Tregs still remains contentious and may potentially restrict their clinical use. Recent work suggested that epigenetic imprinting of Foxp3 and other Treg-specific signature genes is crucial for stabilization of immunosuppressive properties of Foxp3+ Tregs, and that these events are initiated already during early stages of thymic Treg development. However, the mechanisms governing this process remain largely unknown...
March 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/28414128/impaired-degradation-of-medullary-wnk4-in-the-kidneys-of-klhl2-knockout-mice
#8
Yuri Kasagi, Daiei Takahashi, Tomomi Aida, Hidenori Nishida, Naohiro Nomura, Moko Zeniya, Takayasu Mori, Emi Sasaki, Fumiaki Ando, Tatemitsu Rai, Shinichi Uchida, Eisei Sohara
Mutations in the with-no-lysine kinase 1 (WNK1), WNK4, Kelch-like 3 (KLHL3), and Cullin3 (CUL3) genes were identified as being responsible for hereditary hypertensive disease pseudohypoaldosteronism type II (PHAII). Normally, the KLHL3/CUL3 ubiquitin ligase complex degrades WNKs. In PHAII, the loss of interaction between KLHL3 and WNK4 increases levels of WNKs because of impaired ubiquitination, leading to abnormal over-activation of the WNK-OSR1/SPAK-NCC cascade in the kidney's distal convoluted tubules (DCT)...
April 13, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28413794/comparative-evaluation-of-iodine-131-metaiodobenzylguanidine-and-18-fluorodeoxyglucose-positron-emission-tomography-in-assessing-neural-crest-tumors-will-they-play-a-complementary-role
#9
Soumyakanti Kundu, Purushottam Kand, Sandip Basu
BACKGROUND: 18-Fluorodeoxyglucose positron emission tomography (FDG-PET) has established a role in the evaluation of several malignancies. However, its precise clinical role in the neural crest cell tumors continues to evolve. PURPOSE: The purpose of this study was to compare iodine-131 metaiodobenzylguanidine ((131)I-MIBG) and FDG-PET of head to head in patients with neural crest tumors both qualitatively and semiquantitatively and to determine their clinical utility in disease status evaluation and further management...
January 2017: South Asian Journal of Cancer
https://www.readbyqxmd.com/read/28413476/the-mechanism-of-human-%C3%AE-defensin-3-in-mrsa-induced-infection-of-implant-drug-resistant-bacteria-biofilm-in-the-mouse-tibial-bone-marrow
#10
Chen Zhu, Ni-Rong Bao, Shuo Chen, Jian-Ning Zhao
The mechanism of human β-defensin 3 (HBD-3) in methicillin-resistant Staphylococcus aureus (MRSA-induced infection of implant drug-resistant bacteria biofilm in the mouse tibial bone marrow was studied. Healthy adult male Sprague-Dawley rats with average weight of 230 g were selected to construct the infection model of MRSA-induced implant drug-resistant bacteria biofilm in the mouse left tibial bone marrow. The drugs were intraperitoneally injected after 24 h medullary cavity infection, and the experimental groups included the model group, HBD-3 group, and vancomycin group (20 rats in each group)...
April 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28413206/differential-diagnostic-significance-of-hbme-1-ck19-and-s100-in-various-thyroid-lesions
#11
S Palo, D S Biligi
OBJECTIVE: Due several overlapping histomorphological features and pitfalls in thyroid pathology, there is need to establish a panel of immunomarkers that would aid in proper diagnosis. This study was carried out to investigate the ability of HBME-1, CK19, and S100 in differentiating between hyperplastic, benign and malignant thyroid lesions. MATERIALS AND METHODS: Immunohistochemical analysis of 60 thyroidectomy specimens (10 hyperplastic nodules, 14 follicular adenomas and 36 malignant thyroid neoplasms) was carried out...
April 2017: Malaysian Journal of Pathology
https://www.readbyqxmd.com/read/28411179/clusterin-expression-in-medullary-thyroid-carcinoma-is-inversely-correlated-with-the-presence-of-lymph-node-metastases
#12
Najat Mourra, Malika Bennis, Pierre-Yves Boelle, Beatrix Cochand-Priollet, Marine Lefevre, Charles Lepine, Andre Balaton, Jerzy Klijanienko, Fabrice Menegaux, Frederique Tissier
Clusterin (CLU) is a sulfated glycoprotein implicated in many physiological and pathological processes, including tumorigenesis. Several studies have reported the overexpression of CLU in human neoplasm, examined by immunohistochemistry. However, there is no extensive data on its role in the thyroid. Here we investigate CLU expression in thyroid tumors, and the potential correlation between this expression and clinicopathologic parameters. Immunohistochemistry with Anti-CLU was performed on paraffin sections from 39 thyroid tumors...
April 11, 2017: Human Pathology
https://www.readbyqxmd.com/read/28410203/exploring-the-key-genes-and-pathways-in-enchondromas-using-a-gene-expression-microarray
#13
Zhongju Shi, Hengxing Zhou, Bin Pan, Lu Lu, Yi Kang, Lu Liu, Zhijian Wei, Shiqing Feng
Enchondromas are the most common primary benign osseous neoplasms that occur in the medullary bone; they can undergo malignant transformation into chondrosarcoma. However, enchondromas are always undetected in patients, and the molecular mechanism is unclear. To identify key genes and pathways associated with the occurrence and development of enchondromas, we downloaded the gene expression dataset GSE22855 and obtained the differentially expressed genes (DEGs) by analyzing high-throughput gene expression in enchondromas...
March 30, 2017: Oncotarget
https://www.readbyqxmd.com/read/28409442/surgical-management-of-medullary-thyroid-carcinoma
#14
REVIEW
Agathoklis Konstantinidis, Michael Stang, Sanziana A Roman, Julie Ann Sosa
Medullary thyroid cancer (MTC) is a malignant tumor of the parafollicular C cells of the thyroid and comprises only 1-2% of all thyroid cancer cases. Unlike most differentiated thyroid cancer, MTC is associated with a mean survival of 8.6 years and accounts for a disproportionate 8.6% of thyroid cancer deaths. Surgery is the mainstay of treatment for loco-regional disease and the only current means of cure for MTC. The relatively low incidence of MTC has made the comprehensive study of this disease difficult and most research to date has been based largely on single institution, retrospective, and/or non-randomized studies...
April 13, 2017: Updates in Surgery
https://www.readbyqxmd.com/read/28407736/large-enchondroma-of-the-thoracic-spine-a-rare-case-report-and-review-of-the-literature
#15
Jing Guo, Ju-Zhou Gao, Lian-Jin Guo, Zhi-Xun Yin, Er-Xing He
BACKGROUND: Enchondroma, a subtype of chondroma, originates from the medullary cavity of the bone and produces an expansile growth pattern. Enchondroma located in the spine is rare and a few cases of large thoracic enchondroma have been reported. The authors document a rare case of large enchondroma in the thoracic spine of a 49-year-old woman, and discuss its clinical, radiological and histopathological characteristics. CASE PRESENTATION: The patient presented with rapidly progressive and severe pain on her upper back...
April 13, 2017: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/28405841/focal-segmental-glomerulosclerosis-and-medullary-nephrocalcinosis-in-children-with-adck4-mutations
#16
Eujin Park, Hee Gyung Kang, Young Hun Choi, Kyoung Bun Lee, Kyung Chul Moon, Hyeon Joo Jeong, Michio Nagata, Hae Il Cheong
BACKGROUND: Mutations in the AarF domain containing kinase 4 gene (ADCK4), one of the novel genes causing steroid-resistant nephrotic syndrome (SRNS), usually manifest as isolated adolescent-onset focal segmental glomerulosclerosis (FSGS). ADCK4 interacts with components of the coenzyme Q10 (CoQ10) biosynthesis pathway. METHODS: The incidence and phenotypes of patients with ADCK4 mutations were investigated in a cohort of Korean pediatric patients with SRNS. RESULTS: Among the 53 patients enrolled in the study the incidence of ADCK4-associated FSGS was 7...
April 12, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28405801/urine-exosomes-from-healthy-and-hypertensive-pregnancies-display-elevated-level-of-%C3%AE-subunit-and-cleaved-%C3%AE-and-%C3%AE-subunits-of-the-epithelial-sodium-channel-enac
#17
Maria R Nielsen, Britta Frederiksen-Møller, Rikke Zachar, Jan S Jørgensen, Mie R Hansen, Rikke Ydegaard, Per Svenningsen, Kristian Buhl, Boye L Jensen
Preeclampsia is characterized by hypertension, proteinuria, suppression of plasma renin-angiotensin-aldosterone, and impaired urine sodium excretion. Aberrantly filtered plasmin in urine may activate proteolytically the γ-subunit of the epithelial sodium channel (ENaC) and promote Na(+) reabsorption and urine K(+) loss. Plasma and urine was sampled from patients with preeclampsia, healthy pregnant controls and non-pregnant women, and from patients with nephrostomy catheters. Aldosterone concentration, urine plasminogen, and protein were determined...
April 12, 2017: Pflügers Archiv: European Journal of Physiology
https://www.readbyqxmd.com/read/28405625/resistance-to-hypertension-mediated-by-intercalated-cells-of-the-collecting-duct
#18
Johannes Stegbauer, Daian Chen, Marcela Herrera, Matthew A Sparks, Ting Yang, Eva Königshausen, Susan B Gurley, Thomas M Coffman
The renal collecting duct (CD), as the terminal segment of the nephron, is responsible for the final adjustments to the amount of sodium excreted in urine. While angiotensin II modulates reabsorptive functions of the CD, the contribution of these actions to physiological homeostasis is not clear. To examine this question, we generated mice with cell-specific deletion of AT1A receptors from the CD. Elimination of AT1A receptors from both principal and intercalated cells (CDKO mice) had no effect on blood pressures at baseline or during successive feeding of low- or high-salt diets...
April 6, 2017: JCI Insight
https://www.readbyqxmd.com/read/28405619/role-of-adenylyl-cyclase-6-in-the-development-of-lithium-induced-nephrogenic-diabetes-insipidus
#19
Søren Brandt Poulsen, Tina Bøgelund Kristensen, Heddwen L Brooks, Donald E Kohan, Timo Rieg, Robert A Fenton
Psychiatric patients treated with lithium (Li(+)) may develop nephrogenic diabetes insipidus (NDI). Although the etiology of Li(+)-induced NDI (Li-NDI) is poorly understood, it occurs partially due to reduced aquaporin-2 (AQP2) expression in the kidney collecting ducts. A mechanism postulated for this is that Li(+) inhibits adenylyl cyclase (AC) activity, leading to decreased cAMP, reduced AQP2 abundance, and less membrane targeting. We hypothesized that Li-NDI would not develop in mice lacking AC6. Whole-body AC6 knockout (AC6(-/-)) mice and potentially novel connecting tubule/principal cell-specific AC6 knockout (AC6(loxloxCre)) mice had approximately 50% lower urine osmolality and doubled water intake under baseline conditions compared with controls...
April 6, 2017: JCI Insight
https://www.readbyqxmd.com/read/28405543/imaging-of-renal-medullary-carcinoma
#20
REVIEW
Federico Greco, Eliodoro Faiella, Domiziana Santucci, Carlo Augusto Mallio, Marco Nezzo, Carlo Cosimo Quattrocchi, Bruno Beomonte Zobel, Rosario Francesco Grasso
Renal medullary carcinoma (RMC) is a rare, highly aggressive tumor recognized as an independent pathological entity. African-descent adolescents and young adults with sickle cell hemoglobinopathy are the most affected groups. This rare subtype of renal cell carcinoma has its own morphogenetic and pathological characteristics. The major clinical manifestations include gross hematuria, abdominal or flank pain, and weight loss. The prognosis is very poor, with 95% of cases diagnosed at an advanced stage of the disease...
2017: Journal of Kidney Cancer and VHL
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