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Elizabeth R Gerstner, Kristian W Pajtler
Ependymoma can arise throughout the whole neuraxis. In children, tumors predominantly occur intracranially, whereas the spine is the most prevalent location in adults. Significant variance in the grade II versus grade III distinction of ependymomas has led to the acknowledgment that the clinical utility of histopathological classification is limited. Epigenomic profiling efforts have identified molecularly distinct groups of ependymomas that adequately reflect the biological, clinical, and histopathological heterogeneities across anatomical compartments, age groups, and grades...
February 2018: Seminars in Neurology
Michael Platten, David A Reardon
Strategies to empower the immune system to successfully attack cancers, including vaccination approaches, adaptive T cell therapies, and immune checkpoint modulators, have recently achieved remarkable success across a spectrum of cancer indications. Nonetheless, with rare exception, only a minority of patients with a given type of cancer respond to an immunotherapeutic when administered as single-agent therapy. Although under extensive laboratory and clinical investigation, the role of these approaches for glioma patients remains to be determined...
February 2018: Seminars in Neurology
Amarateedha H Prak, Kristina M Dela Rosa
With skin lesions that have failed previous treatments, consideration for an atypical mycobacteria, specifically Mycobacterium marinum, infection should be suspected. Importance of the history cannot be stressed as this is a clue that the patient may have been inoculated and infected in the field environment. A marine with chronic right knee plaque for 3 yr that first appeared after a field exercise at The Basic School but worsened despite treatment with clindamycin, TMP-SMX, and incision and drainage in 2012...
March 14, 2018: Military Medicine
Matthew T Koroscil, Andrew Skabelund
Introduction: Blastomyces dermatitidis is a dimorphic fungus endemic to the Mississippi River valley. We describe a rare case of chronic pulmonary blastomycosis complicated by large pulmonary cavitation in a young service member who was misdiagnosed with active pulmonary tuberculosis. Case Presentation: A 25-year-old active duty male presented to his primary care provider with complaints of hemoptysis, fatigue, weight loss, and fever. Computed tomography chest with contrast identified a large cavitary lesion in the right upper lobe (RUL)...
March 14, 2018: Military Medicine
Igor S Pessi, Yannick Lara, Benoit Durieu, Pedro de C Maalouf, Elie Verleyen, Annick Wilmotte
The terrestrial Antarctic Realm has recently been divided into 16 Antarctic Conservation Biogeographic Regions (ACBRs) based on environmental properties and the distribution of biota. Despite their prominent role in the primary production and nutrient cycling in Antarctic lakes, cyanobacteria were only poorly represented in the biological dataset used to delineate these ACBRs. Here we provide a first high-throughput sequencing (HTS) insight into the spatial distribution of benthic cyanobacterial communities in Antarctic lakes located in four distinct, geographically distant ACBRs and covering a range of limnological conditions...
March 14, 2018: FEMS Microbiology Ecology
Hyungsub Park, Kwangmin Kim
The incidence of an isolated femoral vessel injury in the absence of fractures or other organ injury is extremely rare. A 20-yr-old male Korean soldier was taken to the hospital with a common femoral artery (CFA) obstruction. Injured CFA segment was resected and replaced by using 7-mm PTFE (polytetrafluoroethylene) graft. Two months after the surgical treatment, the patient discharged from the hospital without any complaints or postoperative complications. We report an unusual case of isolated femoral artery injury due to blunt trauma during military service with following review of literature...
March 14, 2018: Military Medicine
Yilun Deng, Yuejuan Qin, Subramanya Srikantan, Anqi Luo, Zi-Ming Cheng, Shahida K Flores, Kris S Vogel, Exing Wang, Patricia L M Dahia
The TMEM127 tumor suppressor gene encodes a transmembrane protein of unknown function mutated in pheochromocytomas and, rarely, in renal cancers. Tumors with inactivating TMEM127 mutations have increased mTORC1 signaling by undefined mechanisms. Here we report that TMEM127 interacts with the lysosome-anchored complex comprised of Rag GTPases, the LAMTOR pentamer (or 'ragulator') and vATPase, which controls amino acid-mediated mTORC1 activation. We found that in nutrient-rich conditions TMEM127 expression reduces mTORC1 recruitment to Rags...
March 14, 2018: Human Molecular Genetics
Belén Pérez-Pevida, Daniela Stefania Trifu, Anna Kamocka, Julia Álvarez Hernández
CONTEXT: Bariatric surgery has beneficial effects on obesity and associated comorbidities such as glycaemic control in type 2 diabetes, dyslipidaemia, hypertension, and renal and hepatic function. Nevertheless, this surgery is not free of complications and possible side effects due to restrictive and/or malabsorptive related components. CASE DESCRIPTION: We report the case of a 60-year-old woman whose past medical history included morbid obesity, hypertension and Scopinaro biliopancreatic diversion (BPD) with duodenal switch in 1998...
March 1, 2018: International Journal of Surgery Case Reports
Zahraa Haidar, Nadine Jalkh, Sandra Corbani, Ali Fawaz, Eliane Chouery, André Mégarbané
Pyridoxine dependent epilepsy (PDE) is a rare autosomal recessive neurometabolic disorder. In the classical form, seizures are observed within the first month of life, while in the atypical form seizures appear later in life, sometimes as late as at the age of 3 years of life. Both types are unresponsive to conventional anticonvulsant therapy, but can be controlled with pyridoxine monotherapy. Mutations in the ALDH7A1 gene, encoding α-aminoadipic semialdehyde dehydrogenase have been reported to cause this disease in most patients...
March 10, 2018: Seizure: the Journal of the British Epilepsy Association
A Garbout, M Férid
Considering the features in changing the structure and properties of rare earth titanates pyrochlores, the substituted Dy2 Ti2 O7 may be very attractive for various applications. Effect of Sm and Y substitution on the structural properties of Dy2 Ti2 O7 ceramic was established. These ceramics were prepared by solid-state reaction and characterized by X-ray diffraction and Raman spectroscopy. Both analysis show that YDyTi2 O7 with the pyrochlore structure is obtained after heating at 1400°C, but SmDyTi2 O7 has already formed after sintering at 1200°C...
March 10, 2018: Spectrochimica Acta. Part A, Molecular and Biomolecular Spectroscopy
Chen Zhu, Xiaohui Zhang, Qiran Zhao, Qihui Chen
In genetics, heterosis refers to the phenomenon that cross-breeding within species leads to offspring that are genetically fitter than their parents and exhibit improved phenotypic characteristics. Based on the theory of heterosis and existing genetic evidence, offspring of "hybrid" marriages (spouses originating from different states/provinces/countries/areas), though relatively rare due to physical boundaries, may exhibit greater genetic fitness in terms of intelligence, height, or physical attractiveness (the "distance-performance" hypothesis)...
February 19, 2018: Economics and Human Biology
Chengjiao Duan, Linchuan Fang, Congli Yang, Weibin Chen, Yongxing Cui, Shiqing Li
Enzymes in the soil are vital for assessing heavy metal soil pollution. Although the presence of heavy metals is thought to change the soil enzyme system, the distribution of enzyme activities in heavy metal polluted-soil is still unknown. For the first time, using soil zymography, we analyzed the distribution of enzyme activities of alfalfa rhizosphere and soil surface in the metal-contaminated soil. The results showed that the growth of alfalfa was significantly inhibited, and an impact that was most pronounced in seedling biomass and chlorophyll content...
March 13, 2018: Ecotoxicology and Environmental Safety
Emanuel Rivera-Rosado, David Beaton-Comulada, Eric Hernandez-Ortiz, Pablo V Marrero-Ortiz
Fibrous dysplasia is a benign developmental disorder of bone in which fibrous connective tissue containing abnormal bone with irregular trabeculae replaces normal cancellous bone. It may affect 1 (monostotic) or multiple bones (polyostotic). Polyostotic disease is the less common of the 2, occurring in only 20 to 25% of fibrous dysplasia patients and tending to affect those who are younger than 10 years of age; patients having this form tend to experience bone enlargement beyond normal skeletal maturation, which can cause pain, progressive damage, and increased risk of pathological fracture...
March 2018: Puerto Rico Health Sciences Journal
Xiang Jiao, Wen Liu, Hovsep Mahdessian, Patrick Bryant, Jenny Ringdahl, Maria Timofeeva, Susan M Farrington, Malcolm Dunlop, Annika Lindblom
Genome-wide association studies (GWAS) have identified dozens of common genetic variants associated with risk of colorectal cancer (CRC). However, the majority of CRC heritability remains unclear. In order to discover low-frequency, high-risk CRC susceptibility variants in Swedish population, we genotyped 1 515 CRC patients enriched for familial cases, and 12 108 controls. Case/control association analysis suggested eight novel variants associated with CRC risk (OR 2.0-17.6, p-value < 2.0E-07), comprised of seven coding variants in genes RAB11FIP5, POTEA, COL27A1, MUC5B, PSMA8, MYH7B, and PABPC1L as well as one variant downstream of NEU1 gene...
2018: PloS One
Charles Hellec, Maxime Delos, Mathieu Carpentier, Agnès Denys, Fabrice Allain
Heparan sulfate 3-O-sulfotransferases (HS3STs) catalyze the final maturation step of heparan sulfates. Although seven HS3ST isozymes have been described in human, 3-O-sulfation is a relatively rare modification, and only a few biological processes have been described to be influenced by 3-O-sulfated motifs. A conflicting literature has recently reported that HS3ST2, 3A, 3B and 4 may exhibit either tumor-promoting or anti-oncogenic properties, depending on the model used and cancer cell phenotype. Hence, we decided to compare the consequences of the overexpression of each of these HS3STs in the same cellular model...
2018: PloS One
Lynn Jakobs
BACKGROUND: Medullary thyroid cancer (MTC) is a rare cancer that has historically been managed by endocrinologists. In 2011, the first of several multi- targeted tyrosine kinase inhibitors was approved as treatment for MTC. These drugs have changed the management of MTC to teams that include oncologists and oncology nurses. OBJECTIVES: This article illustrates MTC diagnostics, surveillance, management of adverse drug reactions, and disease progression through a case study...
April 1, 2018: Clinical Journal of Oncology Nursing
Giovanni Martinotti, Rita Santacroce, Mauro Pettorruso, Chiara Montemitro, Maria Chiara Spano, Marco Lorusso, Massimo di Giannantonio, Arturo G Lerner
Hallucinogen Persisting Perception Disorder (HPPD) is a rare, and therefore, poorly understood condition linked to hallucinogenic drugs consumption. The prevalence of this disorder is low; the condition is more often diagnosed in individuals with a history of previous psychological issues or substance misuse, but it can arise in anyone, even after a single exposure to triggering drugs. The aims of the present study are to review all the original studies about HPPD in order to evaluate the following: (1) the possible suggested etiologies; (2) the possible hallucinogens involved in HPPD induction; (3) the clinical features of both HPPD I and II; (4) the possible psychiatric comorbidities; and (5) the available and potential therapeutic strategies...
March 16, 2018: Brain Sciences
Peter Clifton, Jennifer Keogh
The meta-analysis of plant sterol supplement studies suggests an 8% lowering of low density lipoprotein (LDL) cholesterol for 2 to 2.5 g/day of plant sterols. Cereal foods have been rarely tested, and one study showed a lower LDL lowering of 5.4% with 1.6 g of plant sterol in breakfast cereal. We aimed to test a breakfast wheat biscuit with 2 g of plant sterols in a single serve of two wholegrain wheat breakfast cereal biscuits. Fifty volunteers with a total cholesterol of >5.5 mmol/L were recruited for a randomised crossover study with two 4-week periods with no washout, of which 45 successfully completed the study...
March 16, 2018: Foods (Basel, Switzerland)
Swathi Kaliki, Ashi Morawala, Swarnalata Gowrishankar
No abstract text is available yet for this article.
March 14, 2018: Ophthalmic Plastic and Reconstructive Surgery
Varun Chandra, Danielle Buck, Rahul Chakrabarti, Alan McNab
A 24-year-old woman presented with a 1-year history of gradually increasing pain on eye movements, worse on the right. She had a significant background of undergoing intracranial correction of orbital hypertelorism with internal fixation of the lateral orbital rims at the age of 6 years. Imaging was consistent with bilateral metallic foreign bodies from both lateral orbital rims protruding into the globes. The patient underwent removal of bilateral plates and screws, with a significant improvement of symptoms and ocular motility postoperatively...
March 14, 2018: Ophthalmic Plastic and Reconstructive Surgery
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