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https://www.readbyqxmd.com/read/28938732/prevalence-of-occult-leiomyosarcomas-and-atypical-leiomyomas-after-laparoscopic-morcellation-of-leiomyomas-in-reproductive-age-women
#1
G Pados, D Tsolakidis, V Theodoulidis, A Makedos, T Zaramboukas, B Tarlatzis
STUDY QUESTION: What is the prevalence of leiomyosarcomas and atypical leiomyomas after laparoscopic morcellation of fibroids in reproductive age women? SUMMARY ANSWER: No case of leiomyosarcomas but seven atypical leiomyomas were found in 1216 subjects. WHAT IS KNOWN ALREADY: Although uterine sarcoma is a rare entity affecting usually older peri- or post-menopausal women, the Food and Drug Administration discourages use of laparoscopic power morcellation of uterine fibroids...
October 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28938700/liver-cancers-with-stem-progenitor-cell-features-a-rare-chemotherapy-sensitive-malignancy
#2
Bruno Christian Köhler, Nina Waldburger, Kai Schlamp, Dirk Jäger, Karl Heinz Weiss, Henning Schulze-Bergkamen, Peter Schirmacher, Christoph Springfeld
Primary liver tumors are a heterogeneous group of malignancies. Besides classical hepatocellular carcinoma (HCC) and cholangiocarcinoma (CC), combined and intermediate forms of liver cancer exist and can express stem-cell markers like nuclear cell adhesion molecule (NCAM-1/CD56), c-kit (CD117) or epithelial cell adhesion molecule (EpCAM) together with high proliferative activity. Liver tumors with progenitor-cell features are associated with an unfavorable prognosis, but the phenotype has not resulted in therapeutic consequences so far...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938691/concomitant-eml4-alk-rearrangement-and-egfr-mutation-in-non-small-cell-lung-cancer-patients-a-literature-review-of-100-cases
#3
REVIEW
Giuseppe Lo Russo, Martina Imbimbo, Giulia Corrao, Claudia Proto, Diego Signorelli, Milena Vitali, Monica Ganzinelli, Laura Botta, Nicoletta Zilembo, Filippo de Braud, Marina Chiara Garassino
The discovery of EGFR mutations and EML4-ALK gene rearrangements has radically changed the therapeutic scenario for patients with advanced non-small cell lung cancer. ALK and EGFR tyrosine-kinase inhibitors showed better activity and efficacy than standard chemotherapy in the first and second line treatment settings, leading to a clear advantage in overall survival of advanced non-small cell lung cancer patients harboring these genetic alterations. Historically the coexistence of EGFR mutations and EML4-ALK rearrangements in the same tumor has been described as virtually impossible...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938686/incidence-and-clearance-of-oral-human-papillomavirus-infection-a-population-based-cohort-study-in-rural-china
#4
Chaoting Zhang, Fangfang Liu, Yaqi Pan, Qiuju Deng, Xiang Li, Zhonghu He, Mengfei Liu, Tao Ning, Chuanhai Guo, Yongmei Liang, Ruiping Xu, Lixin Zhang, Hong Cai, Yang Ke
The natural history of oral human papillomavirus (HPV) infection which is linked with the increased incidence of oropharyngeal squamous cell cancer (OPSCC) has been incompletely studied. Oral swab specimens and questionnaire data were obtained bi-annually for up to 6 visits from 4314 healthy adults aged 25-69 in rural Anyang, China. HPV infection status was evaluated with PCR-based sequencing. Participants with at least two consecutive valid HPV results within the study period were included in the incidence and clearance analysis...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938649/family-based-whole-exome-sequencing-of-atopic-dermatitis-complicated-with-cataracts
#5
Wenxin Luo, Wangdong Xu, Lin Xia, Dan Xie, Lin Wang, Zaipei Guo, Yue Cheng, Yi Liu, Weimin Li
BACKGROUND: Atopic dermatitis (AD) is a common skin disorder with elevated prevalence. Cataract induced by AD rarely occurs in adolescent and young adult patients, which is also called atopic cataract. Using whole exome sequencing, we aimed to explore genetic alterations among AD and atopic cataract. RESULT: We recruited a 19 year-old Chinese male with AD accompanied with cataracts, his father with AD and his mother without AD or cataract. Through analysis of the exomic sequence of the 3 individuals from the same family, we identified that with respect to AD, there were 162 genes mutated in both this patient and his father but not in his mother...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938566/screening-differential-circular-rna-expression-profiles-reveals-hsa_circ_0004018-is-associated-with-hepatocellular-carcinoma
#6
Liyun Fu, Ting Yao, Qingqing Chen, Xiaoyan Mo, Yaoren Hu, Junming Guo
Circular RNAs (circRNAs) have been emerged as an indispensable part of endogenous RNA network. However, the expression significance of circRNAs in hepatocellular carcinoma (HCC) is rarely revealed. The aim of this study was to determine the circRNA expression profile in HCC, and to investigate their clinical significances and relevant mechanisms for cancer progression. The global circRNA expression profile in HCC was measured by circRNA microarray. Levels of one representative circRNAs, hsa_circ_0004018, were confirmed by real-time reverse transcription-polymerase chain reaction...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938536/integrating-omics-data-and-protein-interaction-networks-to-prioritize-driver-genes-in-cancer
#7
Tiejun Zhang, Di Zhang
Although numerous approaches have been proposed to discern driver from passenger, identification of driver genes remains a critical challenge in the cancer genomics field. Driver genes with low mutated frequency tend to be filtered in cancer research. In addition, the accumulation of different omics data necessitates the development of algorithmic frameworks for nominating putative driver genes. In this study, we presented a novel framework to identify driver genes through integrating multi-omics data such as somatic mutation, gene expression, and copy number alterations...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938534/targeting-of-the-mapk-and-akt-pathways-in-conjunctival-melanoma-shows-potential-synergy
#8
Jinfeng Cao, Renier C Heijkants, Aart G Jochemsen, Mehmet Dogrusöz, Mark J de Lange, Pieter A van der Velden, Sjoerd H van der Burg, Martine J Jager, Robert M Verdijk
PURPOSE: Conjunctival melanoma (CM) is a rare but lethal form of cancer. Similar to cutaneous melanoma, CM frequently carries activating mutations in BRAF and NRAS. We studied whether CM as well as conjunctival benign and premalignant melanocytic lesions express targets in the mitogen-activated protein kinase (MAPK) and AKT pathways, and whether specific inhibitors can suppress CM growth in vitro. METHODS: 131 conjunctival lesions obtained from 129 patients were collected...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938490/expression-of-contactin-4-is-associated-with-malignant-behavior-in-pheochromocytomas-and-paragangliomas
#9
Lucie Evenepoel, Francien H van Nederveen, Lindsey Oudijk, Thomas G Papathomas, David F Restuccia, Eric J T Belt, Wouter W de Herder, Richard A Feelders, Gaston J H Franssen, Marc Hamoir, Dominique Maiter, Aurel Perren, Henri J L M Timmers, Susanne van Eeden, Laurent Vroonen, Selda Aydin, Mercedes Robledo, Miikka Vikkula, Ronald R de Krijger, Winand N M Dinjens, Alexandre Persu, Esther Korpershoek
Context: Pheochromocytomas and paragangliomas (PPGL) are rare neuroendocrine, usually benign tumors. Currently, the only reliable criterion of malignancy is the presence of metastases. Objective: The aim was to identify genes associated with malignancy in PPGL. Design: Transcriptomic profiling was performed on 40 benign and 11 malignant PPGL. Genes showing a significantly different expression between benign and malignant PPGL with a ratio ≥ 4 were confirmed, and subsequently tested in an independent series by qRT-PCR...
August 17, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28938420/bone-structural-characteristics-and-response-to-bisphosphonate-treatment-in-children-with-hajdu-cheney-syndrome
#10
Sophia Sakka, Rachel I Gafni, Justin H Davies, Bart Clarke, Peter Tebben, Mark Samuels, Vrinda Saraff, Klaus Klaushofer, Nadja Fratzl-Zelman, Paul Roschger, Frank Rauch, Wolfgang Högler
Context: Hajdu-Cheney syndrome (HJCYS) is a rare, multisystem, bone disease caused by heterozygous mutations in the NOTCH2 gene. Histomorphometric and bone ultrastructural analyses in children have not been reported and sparse evidence exists on response to bisphosphonate (BP) therapy. Objective: To investigate clinical and bone histomorphometric characteristics, bone matrix mineralization and the response of bone geometry and density to BP therapy. Patients: Five children with HJCYS (3 males) aged between 6...
September 8, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28938378/severe-corneal-disorders-developed-after-brimonidine-tartrate-ophthalmic-solution-use
#11
Yuko Maruyama, Yoko Ikeda, Norihiko Yokoi, Kazuhiko Mori, Hiroaki Kato, Morio Ueno, Shigeru Kinoshita, Chie Sotozono
PURPOSE: The primary side effects associated with 0.1% brimonidine tartrate (BT) ophthalmic solution with sodium chlorite are allergic conjunctivitis, blepharitis, and conjunctival hyperemia. However, cornea-related side effects are rare. In this study, we report 2 similar cases in which corneal neovascularization, corneal infiltration, and corneal opacity developed after BT eye-drop use. METHODS: Retrospective report of 2 cases of corneal infiltration after BT eye-drop use...
September 21, 2017: Cornea
https://www.readbyqxmd.com/read/28938341/neurological-toxicities-associated-with-immune-checkpoint-inhibitors
#12
Mehdi Touat, Daniel Talmasov, Damien Ricard, Dimitri Psimaras
PURPOSE OF REVIEW: Immune-checkpoint inhibitors (ICIs) constitute a novel class of agents recently approved to treat a number of human malignancies. Due to their immunomodulatory mechanism of action, ICIs can generate a wide range of immune-related adverse events (irAEs) of which neurological toxicities are of special interest because of their potential severity. The objective of this review is to examine the recent literature describing neurological irAEs and discuss their optimal management...
September 21, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28938333/pediatric-glial-heterotopia-in-the-medial-canthus
#13
Soung Min Kim, Emmanuel Kofi Amponsah, Mi Young Eo, Yun Ju Cho, Suk Keun Lee
Glial heterotopias are rare, benign, congenital, midline, and nonteratomatous extracranial glial tissue. They may be confused as encephalocele or dermoid cysts and are mostly present in the nose.An 8-month-old African female child presented with a slow growing paranasal mass. The mass had been present at the left upper medial canthus since birth and had slowly and progressively enlarged. There was no communication between the mass and the cranial cavity during the operational procedure. The mass was immunohistochemically positive for S-100 protein as well as for glial fibrillary acidic protein, but negative for proliferating cell nuclear antigen...
September 21, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28938329/mandibular-osteomyelitis-and-cervical-lymphadenitis-due-to-mycobacterium-abscessus-surgical-management-of-a-pediatric-cohort-with-a-shared-epidemiologic-exposure
#14
Peter W Thompson, Joseph K Williams
BACKGROUND: Mycobacterium abscessus has been implicated as the cause of various infections in the setting of healthcare-related "outbreaks." Mandibular osteomyelitis caused by M abscessus is exceedingly rare, with only 1 patient reported in the literature. The authors describe the surgical management of 12 pediatric patients with M abscessus-related mandibular osteomyelitis and cervical lymphadenitis caused by exposure to contaminated water at a regional dental clinic. METHODS: Following institutional review board approval, new suspected patients were reviewed and followed prospectively...
September 21, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28938315/proteus-syndrome-with-a-cranial-intraosseous-lipoma
#15
Erik M Wolfswinkel, Thomas A Imahiyerobo, J Gordon McComb, Pedro A Sanchez-Lara, Mark M Urata
Intraosseous lipomas are almost exclusively seen in the long bones. Presence in the craniofacial skeleton is extremely rare. A 7-year-old male is presented with a marked craniofacial deformation from a bony tumor containing an intraosseous lipoma. This finding established a clinical diagnosis of Proteus syndrome. Given the size of the tumor, producing an extensive deformity, three-dimensional modeling was used to generate a three-dimensional printed implant. The process to achieve a successful outcome is herein described...
September 21, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28938313/a-novel-3-step-method-for-correction-of-type-1-stahl-ear
#16
Mimi R Borrelli, Edward H Davidson, Anand R Kumar
BACKGROUND: Stahl ear, a rare congenital auricular anomaly, occurs when a third crus crosses the scaphoid fossa. Optimal elimination of the third crus and reconstruction the superior crus in type 1 Stahl ear remain undercharacterized. We present a novel 3-step technique to reliably correct a type 1 Stahl ear as a case report. METHODS: A 10-year-old male with bilateral prominent type 1 Stahl ears is presented. An anterior curvilinear helical fold incision and posterior V wedge excision was used for exposure...
September 21, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28938260/cryptosporidium-species-are-frequently-present-but-rarely-detected-in-clinical-samples-from-children-with-diarrhea-in-a-developed-country
#17
Daniel M Skovgaards, Gitte N Hartmeyer, Marianne N Skov, Silje V Hoegh, Michael Kemp
Two studies were done on cryptosporidiosis in children. A retrospective survey showed that from 2005 to 2015 Cryptosporidium species was detected by microscopy of stool from 0.25% of children with diarrhea. In a subsequent prospective study PCR detected Cryptosporidium species in 4 (1,3%) of 304 children. Cryptosporidium species is as frequent as other intestinal pathogens in childhood diarrhea. Testing is relevant.
September 20, 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28938259/hepatic-legionella-pneumophila-infection-in-an-infant-with-severe-combined-immunodeficiency
#18
Rotem Lapidot, Laila Alawdah, J R Köhler, Vera Paulson, Ofer Levy
Rare cases of extrapulmonary involvement in Legionella spp. infections have been described, mostly in immunocompromised adults. We report a case of a 2 month old male with reticular dysgenesis variant of severe combined immune deficiency (SCID) with multiple liver lesions. Core-needle biopsies of one liver lesion demonstrated Gram-negative bacilli and a broad-spectrum polymerase chain reaction (PCR) assay detected Legionella pneumophilia.
September 20, 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28938256/chronic-q-fever-infections-in-israeli-children-a-25-year-nationwide-study
#19
Nimrod Sachs, Yafit Atiya-Nasagi, Adi Beth-Din, Itzhak Levy, Shalom Ben-Shimol, Diana Tasher, Galia Grisaru-Soen, Haleema Dabaja, Imad Kassis, Shiri Spilman, Efraim Bilavsky
BACKGROUND: Q fever is a zoonosis caused by the bacterium Coxiella burnetii (C. burnetii) with a worldwide distribution. Our aim was to assess the epidemiology, clinical manifestations and treatment regimens of chronic Q fever infections in Israeli children during the past 25 years. METHODS: Cases were collected from the national Q fever reference laboratory database. Demographic, epidemiologic, and clinical data were reviewed using a structured questionnaire sent to the referring physician...
September 20, 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28938226/does-body-talk-improve-body-satisfaction-among-same-sex-couples
#20
Charlotte H Markey, Meghan M Gillen, Kristin J August, Patrick M Markey, Christopher S Nave
Research suggests the important role of romantic partners in shaping how individuals feel about their bodies (e.g., Markey & Markey, 2013, 2014), but the processes that result in changes in body satisfaction within relationships have rarely been examined. To investigate how partners may potentially affect body image, 72 lesbian couples and 72 gay male couples (total N=288) completed body image assessments on their own and with the help of their partners. Multilevel modeling revealed that both men and women reported an improvement in body satisfaction after talking with their partners while completing the body image assessment together...
September 19, 2017: Body Image
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