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https://www.readbyqxmd.com/read/29236168/clinical-and-magnetic-resonance-imaging-features-of-elderly-onset-dentatorubral-pallidoluysian-atrophy
#1
Atsuhiko Sugiyama, Noriko Sato, Yasuhiro Nakata, Yukio Kimura, Mikako Enokizono, Tomoko Maekawa, Madoka Kondo, Yuji Takahashi, Satoshi Kuwabara, Hiroshi Matsuda
Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant spinocerebellar ataxia caused by CAG triplet expansion in atrophin 1 and is frequently associated with cerebral white matter lesions. To elucidate the clinical features of elderly onset DRPLA and the key radiological findings for differentiating DRPLA from physiological white matter lesions in healthy elderly subjects, we reviewed the clinical and magnetic resonance imaging (MRI) features of ten patients with elderly onset genetically confirmed DRPLA (> 60 years) and compared their MRI findings with those of age- and sex-matched ten healthy subjects with asymptomatic cerebral white matter lesions...
December 13, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/29235389/extracellular-genomic-biomarkers-of-osteoarthritis
#2
Emma Budd, Giovanna Nalesso, Ali Mobasheri
Introduction Osteoarthritis (OA), a chronic, debilitating and degenerative disease of the joints, is the most common form of arthritis. The seriousness of this prevalent and chronic disease is often overlooked. Disease modifying OA drug development is hindered by the lack of soluble biomarkers to detect OA early. The objective of OA biomarker research is to identify early OA prior to the appearance of radiographic signs and the development of pain. Areas covered This review has focused on extracellular genomic material that could serve as biomarkers of OA...
December 13, 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/29235240/gender-differences-in-first-self-perceived-signs-and-symptoms-in-patients-with-an-at-risk-mental-state-and-first-episode-psychosis
#3
Ulrike Heitz, Erich Studerus, Stephanie Menghini-Müller, Martina Papmeyer, Laura Egloff, Sarah Ittig, Astrid Navarra, Christina Andreou, Anita Riecher-Rössler
AIM: Gender differences in the current symptomatology of patients with psychotic disorders have previously been described in the literature. However, it has not yet been investigated whether gender differences exist in the very first self-perceived signs or symptoms of illness onset. The aim of this study was to investigate this aspect in at-risk mental state (ARMS) and first-episode psychosis (FEP) patients. METHODS: ARMS and FEP were recruited via the early detection of psychosis (FePsy) clinic Basel, Switzerland...
December 13, 2017: Early Intervention in Psychiatry
https://www.readbyqxmd.com/read/29235100/embryonic-exposure-to-valproic-acid-affects-the-histaminergic-system-and-the-social-behavior-of-adult-zebrafish-danio-rerio
#4
Diego Baronio, Henri A J Puttonen, Maria Sundvik, Svetlana Semenova, Essi Lehtonen, Pertti Panula
BACKGROUND AND PURPOSE: Histamine modulates several behaviors and physiological functions and its deficiency is associated with neuropsychiatric disorders. Gestational intake of valproic acid (VPA) is linked to Autism Spectrum Disorder (ASD), which is characterized by impaired sociability and stereotypies. VPA effects on the neurochemistry and functional morphology of the histaminergic system in ASD are unclear. Zebrafish are highly social and given the similarities between zebrafish and human neurotransmitter systems, we decided to use zebrafish to study VPA effects on histamine...
December 12, 2017: British Journal of Pharmacology
https://www.readbyqxmd.com/read/29235045/axillary-staging-for-breast-cancer-during-pregnancy-feasibility-and-safety-of-sentinel-lymph-node-biopsy
#5
S N Han, F Amant, E H Cardonick, S Loibl, F A Peccatori, O Gheysens, C A Sangalli, V Nekljudova, K Dahl Steffensen, M Mhallem Gziri, C P Schröder, C A R Lok, A Verest, P Neven, A Smeets, G Pruneri, M Cremonesi, O Gentilini
BACKGROUND: Safety of sentinel lymph node (SLN) biopsy for breast cancer during pregnancy is insufficiently explored. We investigated efficacy and local recurrence rate in a large series of pregnant patients. PATIENTS AND METHODS: Women diagnosed with breast cancer who underwent SLN biopsy during pregnancy were identified from the International Network on Cancer, Infertility and Pregnancy, the German Breast Group, and the Cancer and Pregnancy Registry. Chart review was performed to record technique and outcome of SLN biopsy, locoregional and distant recurrence, and survival...
December 12, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/29234934/early-detection-of-left-ventricular-diastolic-dysfunction-using-conventional-and-speckle-tracking-echocardiography-in-a-large-animal-model-of-metabolic-dysfunction
#6
Mark M P van den Dorpel, Ilkka Heinonen, Sanne M Snelder, Hendrik J Vos, Oana Sorop, Ron T van Domburg, Daphne Merkus, Dirk J Duncker, Bas M van Dalen
Left ventricular (LV) diastolic dysfunction is one of the important mechanisms responsible for symptoms in patients with heart failure. The aim of the current study was to identify parameters that may be used to detect early signs of LV diastolic dysfunction in diabetic pigs on a high fat diet, using conventional and speckle tracking echocardiography. The study population consisted of 16 healthy Göttingen minipigs and 18 minipigs with experimentally induced metabolic dysfunction. Echocardiography measurements were performed at baseline and 3-month follow-up...
December 12, 2017: International Journal of Cardiovascular Imaging
https://www.readbyqxmd.com/read/29234894/amputation-neuroma-mimicking-lymph-node-metastasis-of-remnant-gastric-cancer-a-case-report
#7
Kenichiro Furukawa, Yutaka Tanizawa, Kimihide Kusafuka, Noriyuki Nishiwaki, Keiichi Fujiya, Hayato Omori, Sanae Kaji, Makoto Hikage, Rie Makuuchi, Tomoyuki Irino, Masanori Tokunaga, Etsuro Bando, Taiichi Kawamura, Masanori Terashima
BACKGROUND: Amputation neuromas (ANs) are reactive hyperplasia of nerve tissues that occur after a trauma or surgery involving the peripheral nerves. Only two previous reports of ANs occurring around the stomach and post gastrectomy have been reported. We report the case of a patient with AN near the remnant stomach who underwent distal gastrectomy for gastric cancer. CASE PRESENTATION: A 76-year-old man underwent distal gastrectomy, D1+ lymphadenectomy, and Billroth-I reconstruction for early gastric cancer in another hospital at 63 years of age...
December 12, 2017: Surgical Case Reports
https://www.readbyqxmd.com/read/29234863/gait-analysis-in-short-term-follow-up-of-medial-opening-wedge-high-tibial-osteotomy
#8
Hésojy Gley Pereira Vital da Silva, Alessandro Rozim Zorzi, Heglayne Pereira Vital da Silva, João Batista de Miranda
BACKGROUND: Biomechanical gait changes are proposed as adaptations to medial knee osteoarthritis (OA), and little is known about which parameters can be modified early by high tibial osteotomy (HTO) surgery. The aim of this study was to identify early gait changes in a postoperative period of 6 months as compared to a control group, in three different spatial planes. METHODS: Twenty-one patients with OA were submitted to three-dimensional gait analysis preoperatively and 6 months after HTO surgery...
December 12, 2017: European Journal of Orthopaedic Surgery & Traumatology: Orthopédie Traumatologie
https://www.readbyqxmd.com/read/29234713/promoting-early-detection-of-melanoma-during-the-mammography-experience
#9
A K Rzepecki, N Jain, Y Ali, L Chavez, J Choi, B Schlosser, E Liko-Hazizi, S M Friedewald, J K Robinson
Background: Invasive melanoma, a lethal form of skin cancer, is the seventh most common cancer in women. Factors such as a history of indoor tanning or sunburn and a personal or family history of skin cancer increase a woman's risk of developing a melanoma. Objective: Because the majority of melanomas occur in patients age 40 years or older, which is the age that is recommended for women to begin screening mammograms, the mammogram experience could be used to promote early detection of melanoma by introducing skin self-examinations (SSE) to a population of women who are already invested in preventive health...
December 2017: International Journal of Women's Dermatology
https://www.readbyqxmd.com/read/29234603/a-retrospective-study-of-clinico-epidemiological-profile-of-snakebite-related-deaths-at-a-tertiary-care-hospital-in-midnapore-west-bengal-india
#10
Rituparna Ghosh, Koushik Mana, Kripasindhu Gantait, Sumana Sarkhel
Objective: Snakebite is one of the neglected tropical diseases that World Health Organization (WHO) aimed to eradicate. The objective of the study is to investigate the mortality and morbidity due to snakebite at Midnapore Medical College & Hospital in Paschim Medinipur district, West Bengal, India. Methods & materials: This is a record-based, retrospective, descriptive epidemiological study conducted from January 2012 to December 2016 at Midnapore Medical College and Hospital(MMCH), Paschim Medinipur district, West Bengal...
2018: Toxicology Reports
https://www.readbyqxmd.com/read/29234227/eradicating-primary-congenital-glaucoma-from-saudi-arabia-the-case-for-a-national-screening-program
#11
REVIEW
Rizwan Malik, Rajiv Khandekar, Trishal Boodhna, Zuhair Rahbeeni, Abdul Elah Al Towerki, Deepak P Edward, Khaled Abu-Amero
The prevalence of primary congenital glaucoma (PCG) in Saudi Arabia is high and the condition is a cause of childhood blindness in the country. Children often present with severe disease, requiring multiple procedures and a lifetime of medical care. The social and economic burden of the condition is substantial. Presently, the mainstay of management is early diagnosis and treatment of PCG. Premarital screening, especially in recessive diseases, such as PCG can be immensely useful by detecting the presence of a defect in the causative gene, followed by genetic counseling to potential couples that will lead to eradication of the disease in future generations...
October 2017: Saudi Journal of Ophthalmology: Official Journal of the Saudi Ophthalmological Society
https://www.readbyqxmd.com/read/29233928/integrated-molecular-characterization-of-the-lethal-pediatric-cancer-pancreatoblastoma
#12
Tomoya Isobe, Masafumi Seki, Kenichi Yoshida, Masahiro Sekiguchi, Yusuke Shiozawa, Yuichi Shiraishi, Shunsuke Kimura, Misa Yoshida, Yoshikage Inoue, Akira Yokoyama, Nobuyuki Kakiuchi, Hiromichi Suzuki, Keisuke Kataoka, Yusuke Sato, Tomoko Kawai, Kenichi Chiba, Hiroko Tanaka, Teppei Shimamura, Motohiro Kato, Akihiro Iguchi, Asahito Hama, Tomoaki Taguchi, Masaharu Akiyama, Junya Fujimura, Akiko Inoue, Tsuyoshi Ito, Takao Deguchi, Chikako Kiyotani, Tomoko Iehara, Hajime Hosoi, Akira Oka, Masashi Sanada, Yukichi Tanaka, Kenichiro Hata, Satoru Miyano, Seishi Ogawa, Junko Takita
Pancreatoblastoma (PBL) is a rare pediatric pancreatic malignancy for which the molecular pathogenesis is not understood. In this study, we report the findings of an integrated multi-omics study of whole exome and RNA sequencing as well as genome-wide copy number and methylation analyses of 10 PBL cases. The PBL genome was characterized by a high frequency of aberrant activation of the Wnt signaling pathway, either via somatic mutations of CTNNB1 (90%) and copy-neutral loss of heterozygosity (CN-LOH) of APC (10%)...
December 12, 2017: Cancer Research
https://www.readbyqxmd.com/read/29233791/incidental-anterior-mediastinal-nodular-lesions-on-chest-ct-in-asymptomatic-subjects
#13
Soon Ho Yoon, Seung Ho Choi, Chang Hyun Kang, Jin Mo Goo
HYPOTHESIS: To investigate the prevalence and characteristics of nodular lesions in the anterior mediastinum that had been incidentally found on screening chest CT in asymptomatic subjects. METHODS: We included 56,358 consecutive participants (mean age, 52.4±10.5 years; male-female, 35,306:21,052) who underwent a baseline low-dose chest CT scan for health checkups from 2006 through 2013. After confirming the presence of anterior mediastinal nodular lesion, their CT findings, confirmatory diagnosis and interval CT scan were reviewed...
December 9, 2017: Journal of Thoracic Oncology
https://www.readbyqxmd.com/read/29233262/medicinal-chemistry-strategies-for-pet-tracer-discovery
#14
REVIEW
José Ignacio Andrés, Mark Schmidt
The detection of gamma rays, resulting from decay of positron emitting isotopes, allows exquisitely sensitive detection of probes radiolabeled with such isotopes. These probes can be designed for high affinity binding to specific molecular targets and be used as tools in the early development of drugs, particularly for neuropsychiatric disorders. Availability of novel tracers requires dedicated resources and selection assays. Many of the selection assays are similar to those used for discovery of clinical compounds, although the distribution and clearance of target specific radioligands requires different in vitro and in vivo methods and new derivatives...
November 2017: Drug Discovery Today. Technologies
https://www.readbyqxmd.com/read/29233096/evaluation-of-scoring-systems-without-endoscopic-findings-for-predicting-outcomes-in-patients-with-upper-gastrointestinal-bleeding
#15
Il-Gyu Ko, Sung-Eun Kim, Bok Soon Chang, Min Seob Kwak, Jin Young Yoon, Jae Myung Cha, Hyun Phil Shin, Joung Il Lee, Sang Hyun Kim, Jin Hee Han, Jung Won Jeon
BACKGROUND: Risk scoring systems are used to evaluate patients with upper gastrointestinal bleeding (UGIB). We compared Glasgow-Blatchford score (GBS), modified GBS (mGBS), and Pre-endoscopy Rockall score (Pre-E RS) for immediate application without endoscopic findings in predicting the need of interventions and the 30-day mortality in patients with UGIB. METHODS: Patients who visited the emergency room with UGIB from January 2007 to June 2016 were included. GBS, mGBS, and Pre-E RS were obtained for all patients...
December 12, 2017: BMC Gastroenterology
https://www.readbyqxmd.com/read/29233055/universal-screening-program-in-pregnant-women-and-newborns-at-risk-for-sickle-cell-disease-first-report-from-northern-italy
#16
Mariachiara Lodi, Elena Bigi, Giovanni Palazzi, Lara Vecchi, Riccardo Morandi, Monica Setti, Silvana Borsari, Giuliano Bergonzini, Lorenzo Iughetti, Donatella Venturelli
The implementation of screening programs for early detection of patients with sickle cell disease has become necessary in Italy as a result of the high rate of migration from areas with a high prevalence of the disease (Sub-Saharan Africa, Middle East and the Balkans). Following a pilot study performed in the province of Modena, Italy in 2011-2013, an official screening program was established on May 31 2014 for all pregnant women, free-of-charge for the family according to the National Guidelines for Physiological Pregnancy...
December 12, 2017: Hemoglobin
https://www.readbyqxmd.com/read/29232830/evidence-of-altered-glycosylation-of-serum-proteins-prior-to-pancreatic-cancer-diagnosis
#17
Shibu Krishnan, Harry J Whitwell, Joy Cuenco, Aleksandra Gentry-Maharaj, Usha Menon, Stephen P Pereira, Marco Gaspari, John F Timms
Biomarkers for the early detection of pancreatic cancer are urgently needed. The aim of this pilot study was to evaluate changes in serum N-glycoproteins and their glycosylation status prior to clinical presentation of pancreatic cancer that may be potential biomarkers. Prediagnosis serum samples pooled according to five time-to-diagnosis groups and a non-cancer control pool were digested with trypsin, labelled with mass tags, and subjected to titanium dioxide capture, deglycosylation, and 2D-LC-MS/MS profiling...
December 9, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29232801/-early-diagnosis-of-squamous-cell-carcinoma-of-the-urinary-bladder-reached-by-routine-abdominal-ultrasonography-in-a-patient-on-self-catheterization-a-case-report
#18
Yujiro Hayashi, Hitoshi Inoue, Hiromu Noi, Satoko Fukuda, Masanori Noma, Hiroshi Ohashi, Tsuneo Hara
A 69-year-old woman was referred to our department for refractory cystitis. Incomplete emptying of the bladder was observed, and symptoms did not improve after medication. Clean intermittent catheterization was initiated. Two years after introduction of catheterization, a mass in the bladder dome was detected by routine abdominal ultrasonography. She was diagnosed with malignant tumor of the bladder diverticulum based on cystoscopy, computed tomography, and magnetic resonance imaging. Partial cystectomy and lymph node dissection was performed following transurethral resection of the bladder tumor...
November 2017: Hinyokika Kiyo. Acta Urologica Japonica
https://www.readbyqxmd.com/read/29232630/opioid-drugs-and-stercoral-perforation-of-the-colon-case-report-and-review-of-literature
#19
Renée Poitras, Daun'Lee Warren, Sylvanus Oyogoa
INTRODUCTION: Stercoral perforation of the colon is a rare pathology, which is believed to be caused by an increased intraluminal pressure created by a fecaloma. Opioid induced constipation is a rare and often unsuspected cause of colonic perforation. PRESENTATION OF CASE: We report the case of a 58-year-old woman, who presented to the emergency department (ED) with severe hypotension, abdominal pain and gastrointestinal bleeding. She was found to have a diffusely tender and distended abdomen...
December 7, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29232539/how-to-identify-and-manage-cognitive-dysfunction-after-breast-cancer-treatment
#20
Marie Lange, Florence Joly
Attention and memory dysfunction is a common complaint among patients with breast cancer that can be reported during and up to several years after treatment. It can negatively affect patients' quality of life and their ability to work. This phenomenon has mainly been studied in patients with breast cancer who are treated with adjuvant chemotherapy. Women describe concentration problems and difficulties with word finding, multitasking, or remembering new information, as well as more effort and time needed to accomplish these tasks...
December 2017: Journal of Oncology Practice
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