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https://www.readbyqxmd.com/read/29149785/association-study-of-hla-dqb1-0602-allele-in-iranian-patients-with-narcolepsy
#1
Demeke Geremew, Ania Rahimi-Golkhandan, Khosro Sadeghniiat-Haghighi, Yadollah Shakiba, Ahmad Khajeh-Mehrizi, Bita Ansaripour, Maryam Izad
Narcolepsy is a rare, disabling disorder characterized by excessive daytime sleepiness, cataplexy, hypnagogic hallucinations and sleep paralysis. Several studies demonstrated its association with HLA-DQB1*0602 in various ethnic groups. Our study aimed to determine the prevalence of HLA-DQB1*0602 allele in Iranian patients with narcolepsy and assess its predictive parameters for diagnosing narcolepsy. In addition, car accidents and job problems were assessed among narcoleptic patients. We studied 44 narcoleptic patients, 30 patients with other types of excessive daytime sleepiness (EDS)  and 50 healthy age and sex matched individuals in this case-control study...
October 2017: Iranian Journal of Allergy, Asthma, and Immunology
https://www.readbyqxmd.com/read/29149772/natural-history-of-infantile-onset-spinal-muscular-atrophy
#2
Stephen J Kolb, Christopher S Coffey, Jon W Yankey, Kristin Krosschell, W David Arnold, Seward B Rutkove, Kathryn J Swoboda, Sandra P Reyna, Ai Sakonju, Basil T Darras, Richard Shell, Nancy Kuntz, Diana Castro, Julie Parsons, Anne M Connolly, Claudia A Chiriboga, Craig McDonald, W Bryan Burnette, Klaus Werner, Mathula Thangarajh, Perry B Shieh, Erika Finanger, Merit E Cudkowicz, Michelle M McGovern, D Elizabeth McNeil, Richard Finkel, Susan T Iannaccone, Edward Kaye, Allison Kingsley, Samantha R Renusch, Vicki L McGovern, Xueqian Wang, Phillip G Zaworski, Thomas W Prior, Arthur H M Burghes, Amy Bartlett, John T Kissel
OBJECTIVE: Infantile-onset spinal muscular atrophy (SMA) is the most common genetic cause of infant mortality, typically resulting in death prior to age 2. Clinical trials in this population require an understanding of disease progression and identification of meaningful biomarkers to hasten therapeutic development and predict outcomes. METHODS: A longitudinal, multi-center, prospective natural history study enrolled 26 SMA infants, and 27 control infants less than six months of age...
November 17, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/29149770/a-multicenter-retrospective-medical-record-review-of-x-linked-myotubular-myopathy-the-recensus-study
#3
Alan H Beggs, Barry J Byrne, Sabine de Chastonay, Tmirah Haselkorn, Imelda Hughes, Emma S James, Nancy L Kuntz, Jennifer Simon, Lindsay C Swanson, Michele L Yang, Zi-Fan Yu, Sabrina W Yum, Suyash Prasad
INTRODUCTION: X-linked myotubular myopathy (XLMTM), characterized by severe hypotonia, weakness, respiratory distress, and early mortality, is rare and natural history studies are few. METHODS: RECENSUS is a multicenter chart review of male XLMTM patients characterizing disease burden and unmet medical needs. Data were collected between September 2014 and June 2016. RESULTS: Analysis included 112 patients at six clinical sites. Most recent patient age recorded was ≤18 months for 40 patients and >18 months for 72 patients...
November 17, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/29149741/the-isolated-posterior-malleolar-fracture-and-syndesmotic-instability-a-case-report-and-review-of-the-literature
#4
Diederik P J Smeeing, Roderick M Houwert, Moyo C Kruyt, Falco Hietbrink
INTRODUCTION: Ankle fractures are among the most common type of fractures in the lower extremity. A posterior malleolar fracture is frequently part of a more complex ankle fracture and only in rare cases it occurs as isolated injury. Posterior malleolar fractures often occur with associated injuries, such as a Maisonneuve fracture or with bi- or trimalleolar ligamentous injuries. Knowledge about these associated injuries is essential to prevent missed diagnoses. The aim of this article is to describe the isolated posterior malleolar fracture, the possible associated injuries, the diagnostic work-up and therapeutic consequences...
November 13, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29149713/adult-exposure-to-bisphenol-a-in-rare-minnow-gobiocypris-rarus-reduces-sperm-quality-with-disruption-of-testicular-aquaporins
#5
Yingying Zhang, Yongjing Guan, Ting Zhang, Cong Yuan, Yan Liu, Zaizhao Wang
Bisphenol A (BPA) is an endocrine disrupter which has adverse effects on male reproduction. Aquaporins (AQPs), well known water-selective channels, play important roles in spermatogenesis and sperm functions. However, whether AQPs participate in the process that BPA induces abnormal sperms has not been investigated to date. In the present study, adult male rare minnows Gobiocypris rarus were exposed to environmentally relevant concentrations BPA (15 and 225 μg/L) for 1, 2 and 3 weeks. Results showed that BPA exposure disrupted sperm motility, increased the percentage of abnormal sperm cells, and decreased sperm tolerance to hypotonic solution and sperm fertilization capacity...
November 8, 2017: Chemosphere
https://www.readbyqxmd.com/read/29149668/parental-knowledge-and-attitudes-towards-epilepsy-a-study-from-jordan
#6
Amira Masri, Samah Aburahma, Aisha Khasawneh, Abdelkarim Al Qudah, Omar Nafi, Miral Al Momani, Faisal Khatib
PURPOSE: To explore the knowledge, attitudes and behaviors of parents whose children were diagnosed with epilepsy. METHODS: Cross-sectional questionnaire based study of parents who accompanied their children with epilepsy to the child neurology clinics at three university hospitals in Jordan. RESULTS: Most parents (427, 90.3%) knew that epilepsy is not related to a psychiatric disease. Approximately half of the parents (245, 51.8%) used the internet as their source of knowledge, and most used Arabic websites...
November 8, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29149593/notch2-hajdu-cheney-mutations-escape-scf-fbw7-dependent-proteolysis-to-promote-osteoporosis
#7
Hidefumi Fukushima, Kouhei Shimizu, Asami Watahiki, Seira Hoshikawa, Tomoki Kosho, Daiju Oba, Seiji Sakano, Makiko Arakaki, Aya Yamada, Katsuyuki Nagashima, Koji Okabe, Satoshi Fukumoto, Eijiro Jimi, Anna Bigas, Keiichi I Nakayama, Keiko Nakayama, Yoko Aoki, Wenyi Wei, Hiroyuki Inuzuka
Hajdu-Cheney syndrome (HCS), a rare autosomal disorder caused by heterozygous mutations in NOTCH2, is clinically characterized by acro-osteolysis, severe osteoporosis, short stature, neurological symptoms, cardiovascular defects, and polycystic kidneys. Recent studies identified that aberrant NOTCH2 signaling and consequent osteoclast hyperactivity are closely associated with the bone-related disorder pathogenesis, but the exact molecular mechanisms remain unclear. Here, we demonstrate that sustained osteoclast activity is largely due to accumulation of NOTCH2 carrying a truncated C terminus that escapes FBW7-mediated ubiquitination and degradation...
November 16, 2017: Molecular Cell
https://www.readbyqxmd.com/read/29149585/are-twitter-and-blogs-important-tools-for-the-modern-psychological-scientist
#8
Yana Weinstein, Megan A Sumeracki
Psychological scientists have many roles, one of which is, arguably, to communicate their research findings to a broader audience. Twitter and blogging offer relatively inexpensive options for this type of outreach. Engagement in these outreach efforts can lead to career enhancement, but also comes at a cost. We examined a sample of 327 psychological scientists to determine the prevalence of this type of outreach; while the use of Twitter appears to be on the rise, blogging remains very rare. In this piece, we explore the costs and benefits for psychological scientists of blogging and engaging with the general public on Twitter, and how tweeting and blogging might relate to academic merit and varieties of fame in psychology...
November 2017: Perspectives on Psychological Science: a Journal of the Association for Psychological Science
https://www.readbyqxmd.com/read/29149575/researchers-of-color-fame-and-impact
#9
Michael A Zárate, Gordon Nagayama Hall, Victoria C Plaut
Fame and eminence, as traditionally measured, limit the definition of impact to the publication world. We add two types of impact to the traditional measures of fame and eminence. Many of the traditional measures of fame or eminence are based on social-network connections, whereby individuals appoint other people to positions of eminence. Editorial boards are one specific example. Eminence is also limited to number of publications, for example, with little regard for the impact of those publications at the societal level...
November 2017: Perspectives on Psychological Science: a Journal of the Association for Psychological Science
https://www.readbyqxmd.com/read/29149504/mybl1-rearrangements-and-myb-amplification-in-breast-adenoid-cystic-carcinomas-lacking-the-myb-nfib-fusion-gene
#10
Jisun Kim, Felipe C Geyer, Luciano G Martelotto, Charlotte K Y Ng, Raymond S Lim, Pier Selenica, Anqi Li, Fresia Pareja, Nicola Fusco, Marcia Edelweiss, Rahul Kumar, Rodrigo Gularte-Merida, Andre N Forbes, Ekta Khurana, Odette Mariani, Sunil Badve, Anne Vincent-Salomon, Larry Norton, Jorge S Reis-Filho, Britta Weigelt
Breast adenoid cystic carcinoma (AdCC), a rare type of triple-negative breast cancer (TNBC), has been shown to be driven by MYB pathway activation, most often underpinned by the MYB-NFIB fusion gene. Alternative genetic mechanisms, such as MYBL1 rearrangements, have been reported in MYB-NFIB-negative salivary gland AdCCs. Here we report on the molecular characterization by massively parallel sequencing of four breast AdCCs lacking the MYB-NFIB fusion gene. In two cases, we identified MYBL1 rearrangements (MYBL1-ACTN1 and MYBL1-NFIB), which were associated with MYBL1 overexpression...
November 17, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/29149468/pneumoparotitis-as-a-complication-of-long-term-oronasal-positive-airway-pressure-for-sleep-apnea
#11
Andrew J Goates, Daniel J Lee, Joan E Maley, Phillip C Lee, Henry T Hoffman
BACKGROUND: Parotid swelling is rarely caused by pneumoparotitis from retrograde insufflation of air into Stensen's duct. Previous reports have identified occupational exposures, self-induced habits, exercise, spirometry, and short-term positive pressure airway ventilation as causes of salivary duct insufflation. METHODS: We present 2 cases of pneumoparotitis in patients on long-term oronasal continuous positive airway pressure (CPAP) for obstructive sleep apnea...
November 17, 2017: Head & Neck
https://www.readbyqxmd.com/read/29149431/seom-clinical-guidelines-in-gestational-trophoblastic-disease-2017
#12
A Santaballa, Y García, A Herrero, N Laínez, J Fuentes, A De Juan, V Rodriguez Freixinós, J Aparicio, A Casado, E García-Martinez
Gestational trophoblastic disease (GTD) is a rare but curable disease. Recent improvements in diagnosis and molecular biology have resulted in changes in staging and treatment. These guidelines provide evidence-based recommendation on how to manage GTD.
November 17, 2017: Clinical & Translational Oncology
https://www.readbyqxmd.com/read/29149405/current-understanding-of-the-tctp-interactome
#13
Siting Li, Feng Ge
Evolutionarily conserved and pleiotropic, the translationally controlled tumor protein (TCTP) is a housekeeping protein present in eukaryotic organisms. It plays an important role in regulating many fundamental processes, such as cell proliferation, cell death, immune responses, and apoptosis. As a result of the pioneer work by Adam Telerman and Robert Amson, the critical role of TCTP in tumor reversion was revealed. Moreover, TCTP has emerged as a regulator of cell fate determination and a promising therapeutic target for cancers...
2017: Results and Problems in Cell Differentiation
https://www.readbyqxmd.com/read/29149366/prescribing-of-noacs-has-outnumbered-warfarin-exploring-how-physicians-choose-anticoagulant-treatments
#14
Anne Katrine Eek, Erik Øie, Anne Gerd Granas
PURPOSE: The development of non-vitamin K-dependent oral anticoagulants (NOACs) is a new alternative to treatment with warfarin. The purpose of this study was to explore drug prescription decisions of NOACs or warfarin from hospital physicians in cardiovascular departments. METHODS: A qualitative study with focus group interviews was conducted in three different hospitals. The interview guide explored the background of prescribing anticoagulants (warfarin, dabigatran, rivaroxaban, and apixaban) and experiences with effect and side-effects they had observed in patients...
November 17, 2017: European Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/29149327/focused-time-lapse-analysis-reveals-novel-aspects-of-human-fertilization-and-suggests-new-parameters-of-embryo-viability
#15
G Coticchio, M Mignini Renzini, P V Novara, M Lain, E De Ponti, D Turchi, R Fadini, M Dal Canto
STUDY QUESTION: Can focused application of time-lapse microscopy (TLM) lead to a more detailed map of the morphokinetics of human fertilization, revealing novel or neglected aspects of this process? SUMMARY ANSWER: Intensive harnessing of TLM reveals novel or previously poorly characterised phenomena of fertilization, such as a cytoplasmic wave (CW) preceding pronuclear formation and kinetics of pronuclear chromatin polarization, thereby suggesting novel non-invasive biomarkers of embryo quality...
November 15, 2017: Human Reproduction
https://www.readbyqxmd.com/read/29149260/an-aorto-oesophageal-fistula-caused-by-a-fish-bone-resulting-in-an-accidental-discovery-of-an-invasive-adenocarcinoma-in-the-lung
#16
Bao Long Zhang, Ji Ning Sun, Na Na Liu, Fu Zhi Cao
An aorto-oesophageal fistula is a rare, life-threatening complication caused by sharp foreign bodies in the oesophagus. We report an aorto-oesophageal fistula in the inferior segment of thoracic oesophagus caused by a fish bone. Multiplanar reconstruction of computed tomography and computed tomography angiography demonstrated that a foreign body had pierced from the left posterior wall of the oesophagus into the descending aortic wall. These computed tomography images can help radiologists make the correct diagnosis and provide precise evidence for clinicians to perform a timely surgical intervention...
November 15, 2017: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/29149236/mutations-affecting-glycinergic-neurotransmission-in-hyperekplexia-increase-pain-sensitivity
#17
Pascal Henri Vuilleumier, Raphael Fritsche, Jürg Schliessbach, Bernhard Schmitt, Lars Arendt-Nielsen, Hanns Ulrich Zeilhofer, Michele Curatolo
Inhibitory interneurons in the spinal cord use glycine and GABA for fast inhibitory neurotransmission. While there is abundant research on these inhibitory pain pathways in animal models, their relevance in humans remains unclear, largely due to the limited possibility to manipulate selectively these pathways in humans. Hyperekplexia is a rare human disease that is caused by loss-of-function mutations in genes encoding for glycine receptors and glycine transporters. In the present study, we tested whether hyperekplexia patients display altered pain perception or central pain modulation compared with healthy subjects...
November 15, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29149205/kir-content-genotypes-associate-with-carriage-of-hepatitis-b-surface-antigen-e-antigen-and-hbv-viral-load-in-gambians
#18
Louis-Marie Yindom, Maimuna Mendy, Christopher Bodimeade, Caroline Chambion, Peter Aka, Hilton C Whittle, Sarah L Rowland-Jones, Robert Walton
BACKGROUND: Hepatocellular carcinoma (HCC) causes over 800,000 deaths worldwide annually, mainly in low income countries, and incidence is rising rapidly in the developed world with the spread of hepatitis B (HBV) and C (HCV) viruses. Natural Killer (NK) cells protect against viral infections and tumours by killing abnormal cells recognised by Killer-cell Immunoglobulin-like Receptors (KIR). Thus genes and haplotypes encoding these receptors may be important in determining both outcome of initial hepatitis infection and subsequent chronic liver disease and tumour formation...
2017: PloS One
https://www.readbyqxmd.com/read/29149162/-switching-from-one-drug-therapy-to-another-with-the-same-therapeutic-indication-without-harms
#19
Valeria Belleudi, Antonio Addis
The loss of exclusivity from several drug therapies largely used bring new attention the issues of safety, efficacy and following the switch from one drug to another (i.e., biosimilar and/or generics) with the same indication. This is not a problem that can be related to regulatory or economical factors. The increase of patients exposed to chronic conditions and the introductions or more pharmaceutical alternatives with same therapeutic indications yield for studies able to verify the effectiveness and safety even when switch from more drugs is considered by practitioners...
November 2017: Recenti Progressi in Medicina
https://www.readbyqxmd.com/read/29149116/solving-the-problem-of-smoking-in-the-polish-enterprises-during-2003-2015
#20
Elżbieta Korzeniowska, Krzysztof Puchalski
OBJECTIVES: Tobacco smoking is a major organizational, economical, and public relations-related (PR-related) problem for the company. Moreover, it is an important health determinant of the working population. The paper reports the results of the research which analyzed the current state and the tobacco control activities' transformations undertaken by Polish employers between 2003 and 2015. MATERIAL AND METHODS: Data comes from the research performed in 2006, 2010 and 2015, involving random- selected representative samples of Polish enterprises, employing no fewer than 50 employees...
November 17, 2017: International Journal of Occupational Medicine and Environmental Health
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