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Christian Rellstab, Stefan Zoller, Lorenz Walthert, Isabelle Lesur, Andrea R Pluess, René Graf, Catherine Bodénès, Christoph Sperisen, Antoine Kremer, Felix Gugerli
Testing how populations are locally adapted and predicting their response to their future environment is of key importance in view of climate change. Landscape genomics is a powerful approach to investigate genes and environmental factors involved in local adaptation. In a pooled amplicon sequencing approach of 94 genes in 71 populations, we tested if >3'500 single nucleotide polymorphisms (SNPs) in the three most common oak species in Switzerland (Quercus petraea, Q. pubescens, Q. robur) show an association with abiotic factors related to local topography, historical climate, and soil characteristics...
October 19, 2016: Molecular Ecology
Grzegorz Bauman, Francesco Santini, Orso Pusterla, Oliver Bieri
PURPOSE: To present a technique for simultaneous mapping of T1 , T2 , and relative spin density (M0 ) in human lung using inversion recovery ultra-fast steady-state free precession (IR-ufSSFP) imaging. METHODS: Pulmonary relaxometry with IR-ufSSFP is based on an interleaved time series acquisition of 2D images acquired at 1.5T. The technique was tested in a phantom and in four healthy volunteers using breath-hold and electrocardiogram triggering. Typically, 30 transient state images were acquired in a single breath-hold within < 10 s...
October 19, 2016: Magnetic Resonance in Medicine: Official Journal of the Society of Magnetic Resonance in Medicine
Gilles Maussion, Cristiana Cruceanu, Jill A Rosenfeld, Scott C Bell, Fabrice Jollant, Jin Szatkiewicz, Ryan L Collins, Carrie Hanscom, Ilaria Kolobova, Nicolas Menjot de Champfleur, Ian Blumenthal, Colby Chiang, Vanessa Ota, Christina Hultman, Colm O'Dushlaine, Steve McCarroll, Martin Alda, Sebastien Jacquemont, Zehra Ordulu, Christian R Marshall, Melissa T Carter, Lisa G Shaffer, Pamela Sklar, Santhosh Girirajan, Cynthia C Morton, James F Gusella, Gustavo Turecki, Dimitri J Stavropoulos, Patrick F Sullivan, Stephen W Scherer, Michael E Talkowski, Carl Ernst
We performed whole-genome sequencing on an individual from a family with variable psychiatric phenotypes that had a sensory processing disorder, apraxia, and autism. The proband harbored a maternally inherited balanced translocation (46,XY,t(11;14)(p12;p12)mat) that disrupted LRRC4C, a member of the highly specialized netrin G family of axon guidance molecules. The proband also inherited a paternally derived chromosomal inversion that disrupted DPP6, a potassium channel interacting protein. Copy Number (CN) analysis in 14,077 cases with neurodevelopmental disorders and 8,960 control subjects revealed that 60% of cases with exonic deletions in LRRC4C had a second clinically recognizable syndrome associated with variable clinical phenotypes, including 16p11...
October 19, 2016: American Journal of Medical Genetics. Part A
Keiji Tasaka, Kousaku Matsubara, Shizuo Takamiya, Shin-Ichi Ishikawa, Aya Iwata, Hiroyuki Nigami
BACKGROUND: Information on long-term follow-up of childhood-onset anorexia nervosa is scarce. This study aimed to show long-term (>10 years) course, outcome and prognostic factors for hospitalized childhood-onset anorexia nervosa-restricting type (ANR). METHODS: Forty-one ANR girls admitted to a single regional center participated. Median age at first admission was 13.3 (range: 8.6-15.6) years. The longitudinal clinical course was retrospectively determined for a median follow-up period of 17...
October 19, 2016: Pediatrics International: Official Journal of the Japan Pediatric Society
Donald B Sanders, Janice M Massey
OBJECTIVE: To determine if single-fiber EMG (SFEMG) jitter accurately reflects change in severity in myasthenia gravis (MG). METHODS: We reviewed jitter and outcome data from all MG patients in our clinic who had at least 2 jitter measurements in the extensor digitorum (ED) or frontalis muscle. RESULTS: Change in all parameters of jitter measured with SFEMG electrodes predicted clinical change with acceptable accuracy. Absolute and percentage change in mean MCD were equally accurate in predicting clinical change and were more accurate than change in the proportion of fiber pairs with blocking or normal jitter...
October 19, 2016: Muscle & Nerve
Fatma Yildirim, Filiz Sadi Aykan
We read the report by Çeltikçi et al in the Turkish Neurosurgery with great interest. In this single-center retrospective study, they analysed 449 intracranial meningioma patients underwent open surgery. They stated that venous thromboembolism (VTE) had been seen in 21 (4.6%) of their patients. This is an important issue because VTE, including deep vein thrombosis (DVT) and pulmonary embolism (PE), is the most common overall complication in meningioma surgery and is fatal in up to one third of patients (2)...
September 26, 2016: Turkish Neurosurgery
Michael I Seider, Dilraj S Grewal, Prithvi Mruthyunjaya
Portable, hand-held optical coherence tomography (OCT) revealed three clinically relevant yet not ophthalmoscopically detected or confirmed manifestations of retinoblastoma in a single patient with familial bilateral disease. Specifically, OCT showed new retinal tumors, new vitreous seeds, and tumor recurrence before they could be detected or confirmed by ophthalmoscopy. [Ophthalmic Surg Lasers Imaging Retina. 2016;47:965-968.].
October 1, 2016: Ophthalmic Surgery, Lasers & Imaging Retina
Mehmet Murat Uzel, Mehmet Citirik, Cagri Ilhan, Merve Inanc
BACKGROUND AND OBJECTIVE: To evaluate the effect of preoperative intravitreal bevacizumab (IVB) (Avastin; Genentech, South San Francisco, CA) injection on the choice of endotamponade at the end of surgery in patients who underwent pars plana vitrectomy (PPV) for diabetic tractional retinal detachment (DTRD). PATIENTS AND METHODS: Seventy-eight patients who had DTRD with macular involvement and underwent PPV by a single surgeon from January 2012 to May 2015 were included...
October 1, 2016: Ophthalmic Surgery, Lasers & Imaging Retina
Flavia Westphal, Suzete Maria Fustinoni, Vânia Lopes Pinto, Patrícia de Souza Melo, Anelise Riedel Abrahão
Objective: To identify the profile of women seen in a Fetal Medicine unit, diagnosed with fetal abnormality incompatible with neonatal survival in their current pregnancy, and to check the association of gestational age upon diagnosis with the option of pregnancy termination. Methods: This is a retrospective cohort study carried out in the Fetal Medicine Outpatients Clinic of a university hospital, in the city of São Paulo (SP), Brazil, using medical records of pregnant women with fetus presenting abnormalities incompatible with neonatal survival...
July 2016: Einstein
Marisa de Carvalho Borges, Tharsus Dias Takeuti, Guilherme Azevedo Terra, Betânia Maria Ribeiro, Virmondes Rodrigues-Júnior, Eduardo Crema
Background: Surgical trauma triggers an important postoperative stress response characterized by significantly elevated levels of cytokines, an event that can favor the emergence of immune disorders which lead to disturbances in the patient's body defense. The magnitude of postoperative stress is related to the degree of surgical trauma. Aim: To evaluate the expression of pro-inflammatory (TNF-α, IFN-γ, IL-1β, and IL-17) and anti-inflammatory (IL-4) cytokines in patients submitted to conventional and single-port laparoscopic cholecystectomy before and 24 h after surgery...
July 2016: Arquivos Brasileiros de Cirurgia Digestiva: ABCD, Brazilian Archives of Digestive Surgery
Evan J Kipp, Jacqueline Mariscal, Rodrigo X Armijos, Margaret Weigel, Kenneth Waldrup
We detected Leishmania mexicana in skin biopsies taken from a stray canine (Canis familiaris) and Texas mouse (Peromyscus attwateri) at two ecologically disparate sites in west and central Texas using polymerase chain reaction (PCR). A single PCR-positive dog was identified from a sample of 96 stray canines and was collected in a peri-urban area in El Paso County, Texas. The PCR-positive P. attwateri was trapped at a wildlife reserve in Mason County, Texas, from a convenience sample of 20 sylvatic mammals of different species...
October 2016: Memórias do Instituto Oswaldo Cruz
Daniel J Beckett, Elaine Thomson, Lindsay Em Reid, Robert C Lloyd
Although there are national recommendations on the function of Acute Medicine Units (AMUs), there is no single agreed best model of care. Additionally, robust data is not always available to determine whether system changes have resulted in improvement. We designed an Excel file to interface with the hospital patient management system to provide real-time data on a number of metrics including AMU length of stay (AMULOS), mortality and readmissions. This demonstrated that improving consultant continuity of care was associated with a reduction in AMULOS and reduced variation in AMULOS...
2016: Acute Medicine
Joel E Abbott, Roger L Sur
The aim of this paper was to evaluate the current technology and designs of flexible ureterorenoscopes. We will review contemporary fiberoptic and digital ureteroscopes, including a discussion on ureteroscope damage and repair, and lastly present the projected future of flexible ureterorenoscopy. Ureterorenoscopy has evolved dramatically over the past several decades, which has led to landscape reshaping of stone disease treatment and upper tract pathology. Advancements in tip control, miniaturization of scopes, introduction of a digital chip on the tip, disposable devices to augment surgery, surgical experience/familiarity and most recently single use scopes are all independent factors that have increased flexible ureterorenoscopy adoption and success...
October 19, 2016: Minerva Urologica e Nefrologica, the Italian Journal of Urology and Nephrology
Ben H Chew, Dirk Lange
Open ureterolithotomy and pyelolithotomy used to be first line therapy for treating kidney and ureteral stones. With the advent of shockwave lithotripsy, open stone surgery became less prevalent, but once ureteroscopy became more prevalent, open stone surgery became all but extinct. Advances in smaller, more flexible endoscopes and improvements in intracorporeal lithotripters, ureteroscopy has become a mainstay of therapy for kidney stones. The holmium:YAG laser can be utilized through flexible instruments and fragments any stone no matter what it is composed of...
October 19, 2016: Minerva Urologica e Nefrologica, the Italian Journal of Urology and Nephrology
Xin-Yong Zhang, Qi Wan, Dong-Ya Zhu
BACKGROUND Recent studies demonstrated that polymorphisms in the PDE4D gene were associated with several processes involved in the occurrence of ischemic stroke (IS). The association between specific PDE4D single-nucleotide polymorphism 56 (SNP56) and IS risk was initially identified via genome-wide association studies (GWAS), although the GWAS in different populations produced inconclusive results. Thus, we performed a meta-analysis to better explain the association between PDE4D SNP56 and IS risk. MATERIAL AND METHODS A literature search was conducted using PubMed, Embase, and Web of Science up to June 1, 2015...
October 19, 2016: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
Irena E Belousova, Alexey V Samtsov, Dmitry V Kazakov
Unilesional (solitary) mycosis fungoides (MF) is a rare variant characterized clinically by the presence of a single contiguous area of skin involvement covering less than 5% of the body surface and histopathologically by features identical to those seen in classical MF. Angiocentricity (angiodestruction) is mostly a feature of primary or secondary cutaneous lymphomas with an aggressive course and poor outcome, with only very few reports of MF with angiocentric pattern. The authors report an unusual case of solitary patch-stage MF with hemorrhagic features, characterized histologically by epidermotropic and angiocentric (angiodestructive) infiltrate and a reactive B-cell component appearing as lymphoid follicles...
October 18, 2016: American Journal of Dermatopathology
Justin Davanzo, Jessica Lane, Lekhaj Daggubati, Sandip Savaliya, Brian Anderson, Russell Payne, Emily Sieg, Ephraim Church, Pratik Rohatgi, Nicholas Brandmeir, Einar Bogason, Namath Hussain
No abstract text is available yet for this article.
November 2016: Neurosurgery
Marcus D Mazur, Philipp Taussky, Joel D MacDonald, Min S Park
BACKGROUND AND IMPORTANCE: As the use of flow-diverting stents (FDSs) for intracranial aneurysms expands, a small number of case reports have described the successful treatment of blister aneurysms of the internal carotid artery with flow diversion. Blister aneurysms are uncommon and fragile lesions that historically have high rates of morbidity and mortality despite multiple treatment strategies. We report a case of rebleeding after treatment of a ruptured blister aneurysm with deployment of a single FDS...
November 2016: Neurosurgery
Kingsley O Abode-Iyamah, Stephanus V Viljoen, Colleen L McHenry, Michael A Petrie, Kirsten E Stoner, Nader S Dahdaleh, Nicole M Grosland, Matthew A Howard, Richard K Shields
BACKGROUND: Cervical spondylotic myelopathy (CSM) is a common disease of aging that leads to gait instability resulting from loss of leg sensory and motor functions. The results of surgical intervention have been studied using a variety of methods, but no test has been reported that objectively measures integrative leg motor sensory functions in CSM patients. OBJECTIVE: To determine the feasibility of using a novel single leg squat (SLS) test to measure integrative motor sensory functions in patients with CSM before and after surgery...
November 2016: Neurosurgery
Takahisa Hiramitsu, Manabu Okada, Kenta Futamura, Takayuki Yamamoto, Makoto Tsujita, Norihiko Goto, Shunji Narumi, Yoshihiko Watarai
This study aimed to investigate the impact of grafting using thin upper pole artery ligation for living-donor adult kidney transplantation. Few reports have examined the safety of thin upper pole artery ligation.Between January 2008 and May 2015, 613 consecutive living-donor adult kidney transplantations were performed. We excluded 21 recipients who experienced graft loss due to factors that were unrelated to surgical complications and 3 recipients with grafts treated with arterial reconstruction and thin upper pole artery ligation for 3 arteries...
October 2016: Medicine (Baltimore)
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