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Shahida Moosa, Helena Böhrer-Rabel, Janine Altmüller, Filippo Beleggia, Peter Nürnberg, Yun Li, Gökhan Yigit, Bernd Wollnik
Heterozygous germline mutations in MTOR have been shown to underlie Smith-Kingsmore syndrome, a rare autosomal dominant syndrome characterized by macrocephaly, developmental delay, and dysmorphic facial features. Recently, two unrelated families with the MTOR mutation, c.5395G>A p.(Glu1799Lys), were reported. Here, we describe siblings from a non-consanguineous German family in whom we identified the same heterozygous missense mutation in MTOR. Remarkably, in all reported families with Smith-Kingsmore syndrome and the MTOR c...
October 18, 2016: American Journal of Medical Genetics. Part A
Xiao-Wen Zhu, Hai-Zhen Zhu, You-Qing Zhu, Mao-Hui Feng, Jian Qi, Zhi-Fen Chen
The mechanism underlying CD4(+)CD25(+)Foxp3(+) regulatory T cells (Tregs) promoting the development of colorectal cancer (CRC) was elucidated in the present study. Forty-eight cases of colorectal carcinomas, 22 cases of colon polyps and 21 cases of normal colorectal tissues were collected. The correlation among Foxp3, IL-10 and Stat3, and the clinical relevance of these three indexes were analyzed. The results showed that the levels of Foxp3 expressed in infiltrating CD4(+)CD25(+)Foxp3(+)Tregs, and IL-10 and Stat3 in CRC tissues were all significantly higher than those in polypus tissues and normal colon tissues (P< 0...
October 2016: Journal of Huazhong University of Science and Technology. Medical Sciences
Douglas K Rex, Prasanna Ponugoti, Charles Kahi
BACKGROUND: Classification schemes for differentiation of conventional colorectal adenomas from serrated lesions rely on patterns of blood vessels and pits. Morphologic features have not been validated as predictors of histology. AIM: Describe the prevalence of the "valley sign" and validate it as a marker of conventional adenomas METHODS: Three experts judged the prevalence of the valley sign in 301 consecutive small adenomas. Medical students were taught to recognize the valley and tested on their recognition of the valley sign...
October 14, 2016: Gastrointestinal Endoscopy
Kei Nakajima, Kaname Suwa
BACKGROUND: Numerous etiologies are implicated in the complications of diabetes. A link between diabetes and the predisposition to certain cancers, including colon cancer, has been established during the last decade. However, the relationship between fecal occult blood test (FOBT), a screening method used principally for detection of colon cancer, and diabetes has not been explored. METHODS: We investigated the association of positive FOBT with HbA1c of 5.70-6.49% (prediabetes) and HbA1c of ≥6...
October 14, 2016: Clinical Biochemistry
Hai-Long Cao, Xue Chen, Shao-Chun Du, Wen-Jing Song, Wei-Qiang Wang, Meng-Que Xu, Si-Nan Wang, Mei-Yu Piao, Xiao-Cang Cao, Bang-Mao Wang
BACKGROUND: Colorectal serrated polyp is considered as histologically heterogeneous lesions with malignant potential in western countries. However, few Asian studies have investigated the comprehensive clinical features of serrated polyps in symptomatic populations. The aim of the study was to evaluate the features of colorectal serrated polyps in a Chinese symptomatic population. METHODS: Data from all consecutive symptomatic patients were documented from a large colonoscopy database and were analyzed...
2016: Chinese Medical Journal
Jui-Hsiang Tang, Chi-Liang Cheng, Yen-Lin Kuo, Yi-Ning Tsui
BACKGROUND/AIMS: Same-day bidirectional endoscopy (BDE) is a commonly performed procedure, but the optimal sequence of the procedure with carbon dioxide insufflation is not well established. In this study, we investigated the optimal sequence for same-day BDE without polypectomy under moderate sedation and carbon dioxide insufflation in terms of sedation doses and colonoscopy performance. PATIENTS AND METHODS: We performed a prospective observational study of 63 asymptomatic patients who were admitted for physical check-ups...
September 2016: Saudi Journal of Gastroenterology: Official Journal of the Saudi Gastroenterology Association
Cunxian Zhang, C James Sung, M Ruhul Quddus, Rochelle A Simon, Tarek Jazaerly, W Dwayne Lawrence
Ovarian hyperthecosis, a source of estrogen, may occur in postmenopausal women. In this study, we evaluated the possible association of ovarian hyperthecosis with endometrial polyp, endometrial hyperplasia, and endometrioid adenocarcinoma in postmenopausal women. Our study consisted of 238 postmenopausal women: 108 with endometrioid adenocarcinoma and 130 without endometrial carcinoma. The International Federation of Gynecology and Obstetrics system was used to grade endometrioid adenocarcinoma. Within the endometrioid adenocarcinoma cases, 48 (44...
October 13, 2016: Human Pathology
Nicolás Federico Villamil Munévar, Luiz Gustavo de Almeida, Beny Spira
Phosphate homeostasis is tightly regulated in bacteria. Phosphate scarcity is overcome by inducing the expression of genes associated with the scavenging of phosphate and phosphate-containing molecules, while phosphate surplus is stored in the form of polyphosphate (polyP). Regulation of the genes involved in polyP metabolism was investigated. Knockout of the most distal gene of the pstSCAB-phoU operon that encodes a Pi-transport system results in large accumulation of polyphosphate (polyP). Here, we show that the phoU mutation differentially affects the transcription of ppk and ppx, that respectively, encode a polyP kinase and a polyP exopolyphosphatase, by increasing the former and reducing the latter, further contributing the accumulation of polyP...
October 15, 2016: Molecular Genetics and Genomics: MGG
Julie A Poposki, Aiko I Klingler, Whitney W Stevens, Anju T Peters, Kathryn E Hulse, Leslie C Grammer, Robert P Schleimer, Kevin C Welch, Stephanie S Smith, Douglas M Sidle, David B Conley, Bruce K Tan, Robert C Kern, Atsushi Kato
RATIONALE: Thymic stromal lymphopoietin (TSLP) is known to be elevated and truncated in nasal polyps (NPs) of chronic rhinosinusitis and might play a significant role in type 2 inflammation in this disease. However, neither the structure nor the role of the truncated products of TSLP has been studied. OBJECTIVE: To investigate the mechanisms of truncation of TSLP in NPs and the function of the truncated products. METHODS: We incubated recombinant human TSLP with NP extracts, and determined the protein sequence of the truncated forms of TSLP using Edman protein sequencing and MALDI-TOF mass spectrometry (MS)...
October 12, 2016: Journal of Allergy and Clinical Immunology
Margarita Torres-Aquino, Adeline Becquer, Christine Le Guernevé, Julien Louche, Laurie K Amenc, Siobhan Staunton, Hervé Quiquampoix, Claude Plassard
Ectomycorrhizal (ECM) association can improve plant phosphorus (P) nutrition. Polyphosphates (polyP), synthesized in distant fungal cells after P uptake may contribute to P supply from the fungus to the host plant if they are hydrolyzed to phosphate in ECM roots then transferred to the host plant when required. In this study, we addressed this hypothesis for the ECM fungus Hebeloma cylindrosporum grown in vitro and incubated without plant or with host (Pinus pinaster) and non-host (Zea mays) plants, using an experimental system simulating the symbiotic interface...
October 14, 2016: Plant, Cell & Environment
Leonardo Wanderley Lopes, Layssa Batista Simões, Jocélio Delfino da Silva, Deyverson da Silva Evangelista, Ana Celiane da Nóbrega E Ugulino, Priscila Oliveira Costa Silva, Vinícius Jefferson Dias Vieira
OBJECTIVE: This study aims to investigate the accuracy of acoustic measures in discriminating between patients with different laryngeal diagnoses. STUDY DESIGN: The study design is descriptive, cross-sectional, and retrospective. METHODS: A total of 279 female patients participated in the research. Acoustic measures of the mean and standard deviation (SD) values of the fundamental frequency (F0), jitter, shimmer, and glottal to noise excitation (GNE) were extracted from the emission of the vowel /ε/...
October 11, 2016: Journal of Voice: Official Journal of the Voice Foundation
Gregory B Haber
No abstract text is available yet for this article.
November 2016: Gastrointestinal Endoscopy
Liseth Rivero-Sanchez, Maria Lopez-Ceron, Sabela Carballal, Leticia Moreira, Xavier Bessa, Anna Serradesanferm, Angels Pozo, Josep Maria Augé, Teresa Ocaña, Ariadna Sánchez, María Liz Leoz, Míriam Cuatrecasas, Jaume Grau, Josep Llach, Antoni Castells, Francesc Balaguer, Maria Pellisé
Background and study aims: Serrated polyposis syndrome (SPS) is a high risk condition for colorectal cancer (CRC). Surveillance strategies for patients with serrated lesions remain controversial. We aimed to evaluate a diagnostic strategy to detect SPS consistently during reassessment colonoscopy in patients with proximal serrated lesions. Methods: This was a retrospective study of all individuals from a fecal immunochemical test (FIT)-based CRC screening program (2010 - 2013) with one or more serrated lesions of ≥ 5 mm proximal to the sigmoid colon on baseline colonoscopy...
October 14, 2016: Endoscopy
Kazuya Akahoshi, Masaru Kubokawa, Junya Gibo, Shigeki Osada, Kayo Tokumaru, Yuki Shiratsuchi, Masafumi Oya, Eikichi Ihara, Kazuhiko Nakamura
Background and study aims: Endoscopic snare polypectomy with prophylactic detachable snare of large pedunculated colonic polyps (PCPs) is technically demanding. To facilitate removal of such polyps, we developed endoscopic resection using the Clutch Cutter and a detachable snare (ERCCDS). This study aimed to evaluate the efficacy and safety of the procedure. Patients and methods: From April 2010 to July 2015, 14 consecutive patients who had PCPs with head > 10 mm, stalk width > 5 mm, and stalk length > 10 mm were enrolled in this single-center prospective uncontrolled study...
October 14, 2016: Endoscopy
S F Lax
Endometritis is nowadays rare in developed countries and typically shows a subclinical or mild course; therefore, there are probably more cases of endometritis than diagnosed but they lack clinical relevance. In the fertile period of life it can be the reason for vaginal bleeding and infertility. The most common causes for non-specific endometritis are residual placental tissue after abortion or childbirth, intrauterine interventions, lesions within the uterine cavity, such as endometrial polyps, endometrial hyperplasia and neoplasms, intrauterine devices (IUD) and cervical stenosis...
October 13, 2016: Der Pathologe
Mohamed Rizwan Haroon Al Rasheed, Oluwatobi Adelaja, Gabor Tarjan
No abstract text is available yet for this article.
October 13, 2016: International Journal of Surgical Pathology
M Gelardi, N De Candia, N Quaranta, C Russo, P Pecoraro, M Mancini, P Luperto, G Lombardo, A Macchi, C Bocciolini, A Ciofalo, E De Corso, G Ciprandi
No abstract text is available yet for this article.
August 2016: Acta Otorhinolaryngologica Italica
Bożena Kosztyła-Hojna, Diana Moskal, Dawid Falkowski, Anna Łobaczuk-Sitnik, Anna Kraszewska, Małgorzata Skorupa, Jacek Kita, Anna Kuryliszyn-Moskal
: Technique of high-speed digital imaging (HSDI) is unique technique, allowing for assessment of real vocal fold vibrations. AIM: The aim of the study is to present the usefulness of HSDI in the diagnosis of clinical type of dysphonia. MATERIALS AND METHODS: The study group was diagnosed at the Department of Clinical Phonoaudiology and Logopedics at the Medical University of Białystok and treated at the Phoniatric Clinic in years 2012-2015...
July 29, 2016: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
Melanie P Caserta, Candice Bolan, M Jennings Clingan
The purpose of this pictorial review is to describe the normal appearance of the endometrium and to provide radiologists with an overview of endometrial pathology utilizing case examples. The normal appearance of the endometrium varies by age, menstrual phase, and hormonal status with differing degrees of acceptable endometrial thickness. Endometrial pathology most often manifests as either focal or diffuse endometrial thickening, and patients frequently present with abnormal vaginal bleeding. Endovaginal ultrasound (US) is the first-line modality for imaging the endometrium...
October 12, 2016: Abdominal Radiology
Bingjun Bai, Xingxing Wang, Engeng Chen, Hongbo Zhu
Human cytomegalovirus infection (HCMV) has been recently considered as a factor for tumorigenesis. The current study used meta-analytical techniques to explore the prevalence of HCMV in tumor tissues and the relationship between human cytomegalovirus and colorectal cancer (CRC) risk. 11 studies detecting HCMV DNA in tumor tissues were included in meta-analysis. The prevalence rate and odds ratio (OR) were two main parameters. The overall prevalence of human cytomegalovirus DNA in tumor tissues were 27.5% (95% CI = 17...
October 8, 2016: Oncotarget
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