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https://www.readbyqxmd.com/read/28938718/looking-back-forward-looking
#1
Scott C Edmunds, Nicole A Nogoy, Hans Zauner, Peter Li, Christopher I Hunter, Xiao Si Zhe, Laurie Goodman
GigaScience is now 5 years old, having been launched at the 2012 Intelligent Systems for Molecular Biology conference. Anyone who has attended what is the largest computational biology conference since then has had the opportunity to join us for each birthday celebration-and receive 1 of our fun T-shirts as a party prize. Since launching, we have pushed our agenda of openness, transparency, reproducibility, and reusability. Here, we look back at our first 5 years and what we have done to forward our open science goals in scientific publishing...
September 1, 2017: GigaScience
https://www.readbyqxmd.com/read/28938649/family-based-whole-exome-sequencing-of-atopic-dermatitis-complicated-with-cataracts
#2
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/28938556/abcg2-and-ncf4-polymorphisms-are-associated-with-clinical-outcomes-in-diffuse-large-b-cell-lymphoma-patients-treated-with-r-chop
#3
Duo Liu, Nan Wu, Haiming Sun, Mei Dong, Tianzhu Guo, Peng Chi, Guofu Li, Donglin Sun, Yan Jin
The impact of pharmacogenetics on predicting survival in diffuse large B-cell lymphoma (DLBCL) remains unclear. We tested 337 DLBCL patients treated with rituximab-cyclophosphamide, doxorubicin, vincristine, and prednisone (R-CHOP) for 9 single nucleotide polymorphisms from 6 genes (CD20, FCGR2A, NAD(P)H, ABCC2, ABCG2 and CYP3A5). Patients who carried the NCF4 rs1883112 GG genotype showed significantly shorter progression-free survival (PFS) (P = 0.023) and event-free survival (EFS) (P < 0.001) comparing with A allele...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28938508/-angina-pectoris-in-a-young-woman-with-lupus-erythematosus
#4
Simon Braumann, Malte P Bartram, Roman Pfister, Guido Michels
History and clinical findings We present a 31-year old woman with a 6-year history of cutaneous lupus erythematosus (CLE) who presented to the emergency room with typical chest pain. ECG and transthoracic echocardiography were normal. Her working diagnosis of pericarditis was made due to systemic progression of her lupus erythematosus (LE). Treatment with NSAIDs was initiated and her immunosuppressive regimen intensified. The patient was discharged after resolution of her symptoms. A week later, the patient was seen at the rheumatology clinic with recurrence and aggravation of her symptoms...
September 2017: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/28938504/-82-year-old-man-with-a-carotid-bruit-and-an-accidental-finding
#5
Marie-Luise Valentin, Christoph Thalhammer
No abstract text is available yet for this article.
September 2017: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/28938458/corticotroph-pituitary-carcinoma-in-a-patient-with-lynch-syndrome-ls-and-pituitary-tumors-in-a-nationwide-ls-cohort
#6
Daniel Bengtsson, Patrick Joost, Christos Aravidis, Marie Askmalm Stenmark, Ann-Sofie Backman, Beatrice Melin, Jenny von Salomé, Theofanis Zagoras, Samuel Gebre-Medhin, Pia Burman
Context: Lynch syndrome is a cancer predisposing syndrome caused by germline mutations in genes involved in DNA mismatch repair (MMR). Patients are at high risk for several types of cancer, but pituitary tumors have not previously been reported. Case: A 51-year old man with LS (MSH2 mutation) and a history of colon carcinoma presented with severe Cushing's disease and a locally aggressive pituitary tumor. The tumor harbored a mutation consistent with the patient's germline mutation, and displayed defect MMR function...
August 18, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28938378/severe-corneal-disorders-developed-after-brimonidine-tartrate-ophthalmic-solution-use
#7
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/28938324/bilateral-subperiosteal-hematoma-and-orbital-compression-syndrome-in-sickle-cell-disease
#8
Cem Sundu, Erdem Dinç, Ayça Sari, Selma Ünal, Özer Dursun
A 14-year-old boy with sickle cell disease presented with preseptal cellulitis findings as proptosis, eyelid edema, and hyperemia. His best corrected visual acuity in the right eye was 20/20 and 16/20 in the left eye. He had limited ductions in vertical and lateral gazes in both eyes. Bilateral venous tortuosity was observed in posterior segment examination. Orbital bone infarction and subperiosteal hematoma were seen in magnetic resonance imaging. He was diagnosed as having orbital compression syndrome secondary to vaso-occlusive crisis of sickle cell disease and was treated with intravenous ampicilin-sulbactam and methylprednisolone...
September 21, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28938315/proteus-syndrome-with-a-cranial-intraosseous-lipoma
#9
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
#10
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/28938309/successful-treatment-with-dabigatran-for-consumptive-coagulopathy-associated-with-extensive-vascular-malformations
#11
Atsushi Yasumoto, Ryohei Ishiura, Mitsunaga Narushima, Yutaka Yatomi
: Vascular malformation is occasionally complicated by consumptive coagulopathy, known as localized intravascular coagulopathy (LIC), which is characterized by a reduced fibrinogen level, an elevated D-dimer level and a normal platelet count. We report the case of a 17-year-old Japanese girl who presented with LIC secondary to extensive vascular malformations, whose condition had progressed to disseminated intravascular coagulation (DIC). She suddenly presented with severe anaemia, despite the absence of obvious bleeding, and she began to require regular red blood cell (RBC) transfusions...
September 21, 2017: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
https://www.readbyqxmd.com/read/28938254/antibiotic-prophylaxis-immunoglobulin-substitution-and-supportive-measures-prevent-infections-in-mecp2-duplication-syndrome
#12
Michael Bauer, Renate Krüger, Uwe Kölsch, Nadine Unterwalder, Christian Meisel, Volker Wahn, Horst von Bernuth
Respiratory infections are the main cause of early death in patients with MECP2 duplication syndrome. We report on a 20-year-old patient with MECP2 duplication syndrome, IgG2/IgG4/IgA/IgM-deficiency and polysaccharide-specific-antibody-deficiency, who had 46 episodes of pneumonia in his first 13 years of life. Immunoglobulin substitution, daily antibiotic prophylaxis with two agents and supportive measures reduced occurrence of pneumonia to 4 episodes in the following 6 years of life.
September 20, 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28938227/do-prereaders-auditory-processing-and-speech-perception-predict-later-literacy
#13
Sophie Vanvooren, Hanne Poelmans, Astrid De Vos, Pol Ghesquière, Jan Wouters
Developmental dyslexia has frequently been linked to deficits in auditory processing and speech perception. However, the presence and precise nature of these deficits and the direction of their relation with reading, remains debated. In this longitudinal study, 87 five-year-olds at high and low family risk for dyslexia were followed before and during different stages of reading acquisition. The processing of different auditory cues was investigated, together with performance on speech perception and phonology and reading...
September 19, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28938128/contralateral-axillary-lymph-node-metastasis-in-second-primary-breast-cancer-case-report-and-review-of-the-literature
#14
Jacob Gingerich, Edna Kapenhas, Jack Morgani, Alan Heimann
The rare entity of contra-lateral axillary lymph node metastasis(CAM) has been a debatable topic in the realm of breast cancer management for many years. There remains controversy over whether CAM should be considered distant metastasis or locoregional spread. It is also uncertain why or how CAM occurs. In this case report and review of the literature, we present an 81-year-old female with an apparent second primary breast cancer with synchronous CAM. This paper describes a scenario of altered lymphatic drainage which likely lead to CAM...
August 25, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28938123/reconstructing-prehistoric-african-population-structure
#15
Pontus Skoglund, Jessica C Thompson, Mary E Prendergast, Alissa Mittnik, Kendra Sirak, Mateja Hajdinjak, Tasneem Salie, Nadin Rohland, Swapan Mallick, Alexander Peltzer, Anja Heinze, Iñigo Olalde, Matthew Ferry, Eadaoin Harney, Megan Michel, Kristin Stewardson, Jessica I Cerezo-Román, Chrissy Chiumia, Alison Crowther, Elizabeth Gomani-Chindebvu, Agness O Gidna, Katherine M Grillo, I Taneli Helenius, Garrett Hellenthal, Richard Helm, Mark Horton, Saioa López, Audax Z P Mabulla, John Parkington, Ceri Shipton, Mark G Thomas, Ruth Tibesasa, Menno Welling, Vanessa M Hayes, Douglas J Kennett, Raj Ramesar, Matthias Meyer, Svante Pääbo, Nick Patterson, Alan G Morris, Nicole Boivin, Ron Pinhasi, Johannes Krause, David Reich
We assembled genome-wide data from 16 prehistoric Africans. We show that the anciently divergent lineage that comprises the primary ancestry of the southern African San had a wider distribution in the past, contributing approximately two-thirds of the ancestry of Malawi hunter-gatherers ∼8,100-2,500 years ago and approximately one-third of the ancestry of Tanzanian hunter-gatherers ∼1,400 years ago. We document how the spread of farmers from western Africa involved complete replacement of local hunter-gatherers in some regions, and we track the spread of herders by showing that the population of a ∼3,100-year-old pastoralist from Tanzania contributed ancestry to people from northeastern to southern Africa, including a ∼1,200-year-old southern African pastoralist...
September 21, 2017: Cell
https://www.readbyqxmd.com/read/28938106/assessment-of-a-specifically-developed-bullet-casing-gun-for-the-stunning-of-water-buffaloes
#16
Carmen Meichtry, Urs Glauser, Matthieu Glardon, Steffen G Ross, Isabel Lechner, Beat P Kneubuehl, Dominic Gascho, Claudia Spadavecchia, Alois von Rotz, Ana Stojiljkovic, Michael H Stoffel
Water buffaloes and cattle differ considerably with respect to the anatomy of the head. As a result, captive bolt stunners often fail to reliably produce adequate loss of consciousness in water buffaloes and, thus, do not fulfill animal welfare requirements. The goal of the present study was to assess and validate a new stunning device for water buffaloes meeting animal welfare and occupational safety requirements. The newly designed bullet casing gun uses .357Mag/10.2g hollow point bullets and has additional safety features...
September 14, 2017: Meat Science
https://www.readbyqxmd.com/read/28938056/short-term-effects-of-light-quality-on-leaf-gas-exchange-and-hydraulic-properties-of-silver-birch-betula-pendula
#17
Aigar Niglas, Kaisa Papp, Maciej Sekiewicz, Arne Sellin
Leaves have to acclimatize to heterogeneous radiation fields inside forest canopies in order to efficiently exploit diverse light conditions. Short-term effects of light quality on photosynthetic gas exchange, leaf water use and hydraulic traits were studied on Betula pendula Roth shoots cut from upper and lower thirds of the canopy of 39- to 35-year-old trees growing in natural forest stand, and illuminated with white, red or blue light in the laboratory. Photosynthetic machinery of the leaves developed in different spectral conditions acclimated differently with respect to incident light spectrum: the stimulating effect of complete visible spectrum (white light) on net photosynthesis is more pronounced in upper-canopy layers...
September 1, 2017: Tree Physiology
https://www.readbyqxmd.com/read/28937935/the-impact-of-the-2006-massachusetts-health-care-reform-law-on-spine-surgery-patient-payer-mix-status-and-age
#18
Nicolas W Villelli, Hong Yan, Jian Zou, Nicholas M Barbaro
OBJECTIVE Several similarities exist between the Massachusetts health care reform law of 2006 and the Affordable Care Act (ACA). The authors' prior neurosurgical research showed a decrease in uninsured surgeries without a significant change in surgical volume after the Massachusetts reform. An analysis of the payer-mix status and the age of spine surgery patients, before and after the policy, should provide insight into the future impact of the ACA on spine surgery in the US. METHODS Using the Massachusetts State Inpatient Database and spine ICD-9-CM procedure codes, the authors obtained demographic information on patients undergoing spine surgery between 2001 and 2012...
September 15, 2017: Journal of Neurosurgery. Spine
https://www.readbyqxmd.com/read/28937907/direct-pulp-capping-in-primary-molars-using-mineral-trioxide-aggregate-an-in-vivo-study
#19
Elzbieta Luczaj-Cepowicz, Grazyna Marczuk-Kolada, Malgorzata Pawinska, Marta Obidzinska
OBJECTIVE: To do a clinical and radiographic evaluation of the effectiveness of MTA when used as a direct pulp capping material in primary molars. STUDY DESIGN: Clinical and radiographic follow-up was performed on 30 primary molars with deep caries lesions in 30 patients from 3 to 9.75 years of age. Pulps exposed during cavity preparation were treated by direct pulp capping with MTA. The follow-up clinical and radiographic examinations were carried out at different time intervals: 6, 7-12, 13-18, 19-24, and >24 months after treatment...
September 22, 2017: Journal of Clinical Pediatric Dentistry
https://www.readbyqxmd.com/read/28937905/combined-orthodontic-and-surgical-treatment-in-a-8-years-old-patient-affected-by-severe-obstructive-sleep-apnea-a-case-report
#20
Antonio Gracco, Giovanni Bruno, Alberto de Stefani, Rosario Marchese Ragona, Sergio Mazzoleni, Edoardo Stellini
An eight-years-old girl showed a restless sleep with snoring and severe apnea episodes, a mandibular retrognathia, mouth breathing, maxillary transverse discrepancy, mandibular transverse discrepancy, moderate crowding and anterior open-bite. The CBCT showed an anterior collapse of the epiglottis. The treatment consisted in a rapid palatal expansion, an epiglottoplasty and a reduction of the tongue base. Polysomnography revealed that apnea-hypopnea index improved from 21,8 episodes/hr at the baseline to 0,6 episodes/hr, average oxygen saturation from 96,5% to 98,1%, oxygen desaturation events from 23,4 episodes/hr to 1/hr...
September 22, 2017: Journal of Clinical Pediatric Dentistry
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