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https://www.readbyqxmd.com/read/28496371/dyschromatosis-symmetrica-hereditaria-with-cutaneous-lupus-erythematosus-and-hyperthyroidism
#1
Fahad Al-Saif, Ahmed Alhumidi, Rama Ayed Alhallaf
Dyschromatosis symmetrica hereditaria (DSH) is a rare genodermatosis characterized by various sizes of both hyper- and hypopigmented macules arranged in reticulated patterns on the face and the dorsal aspects of the extremities. There are also cutaneous and extracutaneous abnormalities, but they are rare. As far as we know, DSH associated with immune-mediated conditions has not been reported. We report the first case of DSH, which is associated with cutaneous lupus erythematosus and hyperthyroidism.
2017: International Medical Case Reports Journal
https://www.readbyqxmd.com/read/28487882/identification-of-a-novel-rasd1-somatic-mutation-in-a-usp8-mutated-corticotroph-adenoma
#2
Andrew V Uzilov, Khadeen C Cheesman, Marc Y Fink, Leah C Newman, Chetanya Pandya, Yelena Lalazar, Marco Hefti, Mary Fowkes, Gintaras Deikus, Chun Yee Lau, Aye S Moe, Yayoi Kinoshita, Yumi Kasai, Micol Zweig, Arpeta Gupta, Daniela Starcevic, Milind Mahajan, Eric E Schadt, Kalmon D Post, Michael J Donovan, Robert Sebra, Rong Chen, Eliza B Geer
Cushing's disease (CD) is caused by pituitary corticotroph adenomas that secrete excess adrenocorticotropic hormone (ACTH). In these tumors, somatic mutations in the gene USP8 have been identified as recurrent and pathogenic and are the sole known molecular driver for CD. Although other somatic mutations were reported in these studies, their contribution to the pathogenesis of CD remains unexplored. No molecular drivers have been established for a large proportion of CD cases and tumor heterogeneity has not yet been investigated using genomics methods...
May 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28484716/anatomic-variation-in-morphometry-of-human-coracoid-process-among-asian-population
#3
Manal Fathi, Pike-See Cheah, Umar Ahmad, M Nizlan Nasir, Aye Aye San, Ezamin Abdul Rahim, Paisal Hussin, Rozi Mahmud, Fauziah Othman
Ethnic origin plays an important role in bone morphometry. Studies examining the influence of coracoid process have focused primarily on adults and have not included people from diverse Asian ethnic backgrounds. Our goal was to explore ethnic differences in morphometry of coracoid among Asian population. We performed morphometric measurements of coracoid process on cadaveric shoulders and shoulder CT scans from 118 specimens. The cadaveric sample included Indian (46%), Chinese (27%), and Myanmarese (27%) subjects, while the CT scans sample included Chinese (67%) and Malay (33%) subjects...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28481938/correction-pathogenic-waterborne-free-living-amoebae-an-update-from-selected-southeast-asian-countries
#4
Mohamad Azlan Abdul Majid, Tooba Mahboob, Brandon G J Mong, Narong Jaturas, Reena Leeba Richard, Tan Tian-Chye, Anusorn Phimphila, Panomphanh Mahaphonh, Kyaw Nyein Aye, Wai Lynn Aung, Joon Chuah, Alan D Ziegler, Atipat Yasiri, Nongyao Sawangjaroen, Yvonne A L Lim, Veeranoot Nissapatorn
[This corrects the article DOI: 10.1371/journal.pone.0169448.].
2017: PloS One
https://www.readbyqxmd.com/read/28476150/non-adherence-to-anti-retroviral-therapy-among-hiv-infected-adults-in-mon-state-of-myanmar
#5
Win Lei Aye, Apa Puckpinyo, Karl Peltzer
BACKGROUND: The provision of Anti-Retroviral Therapy (ART) was started in Myanmar in 2005 in collaboration with the National AIDS Program and the private sector. Successful clinical management of HIV-infected patients is subject to optimal adherence. The aim of the study was to determine the prevalence of adherence to ART and identify factors associated with non-adherence to ART among HIV infected adults registered in a private sector setting in Mon State, Myanmar. METHODS: This cross-sectional study was conducted with adults living with HIV receiving ART at an HIV outpatient clinic between April and May 2016...
May 5, 2017: BMC Public Health
https://www.readbyqxmd.com/read/28470643/complement-component-c3-variant-r102g-and-the-risk-of-neovascular-age-related-macular-degeneration-in-a-tunisian-population
#6
Imen Habibi, Imen Sfar, Fedra Kort, Rim Bouraoui, Ahmed Chebil, Rim Limaiem, Saloua Ayed, Taïeb Ben Abdallah, Leila El Matri, Yousr Gorgi
Purpose To explore the association between the polymorphism (S/F) p.R102G in the complement component 3 (C3) gene and age-related macular degeneration (AMD) in a Tunisian population. Methods The molecular study was performed by polymerase chain reaction using sequence-specific primers (PCR-SSP) in 207 control subjects free of any eye disease (fundus normal) and 145 patients with exudative AMD. The CH50 activity and quantification of C3 and C4 have been made by technical home method and nephelometry, respectively...
April 2017: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/28466379/bayesian-and-phylogenic-approaches-for-studying-relationships-among-table-olive-cultivars
#7
Rayda Ben Ayed, Karim Ennouri, Fathi Ben Amar, Fabienne Moreau, Mohamed Ali Triki, Ahmed Rebai
To enhance table olive tree authentication, relationship, and productivity, we consider the analysis of 18 worldwide table olive cultivars (Olea europaea L.) based on morphological, biological, and physicochemical markers analyzed by bioinformatic and biostatistic tools. Accordingly, we assess the relationships between the studied varieties, on the one hand, and the potential productivity-quantitative parameter links on the other hand. The bioinformatic analysis based on the graphical representation of the matrix of Euclidean distances, the principal components analysis, unweighted pair group method with arithmetic mean, and principal coordinate analysis (PCoA) revealed three major clusters which were not correlated with the geographic origin...
May 2, 2017: Biochemical Genetics
https://www.readbyqxmd.com/read/28458962/team-approach-helps-patient-survive-high-voltage-electric-burn
#8
Noha Saied, Ahmed Harfoush, Tamer Ayed, Alaa Moustafa, Rania Hassan, Ezz Eldolify, Hany Abdelaziz
A 20-year-old man was subjected to high-voltage electric burn, which was occupational. The patient was admitted to AlGalaa Military Medical Complex almost 2 weeks after the accident had happened. According to Lund and Browder's chart, the patient had a 40% total body surface area burn involving the upper limbs, anterior and posterior trunks, and the left thigh (third- and fourth-degree burns). The aim of this study was to stabilize the patient by conducting lifesaving operations in multiple scheduled sessions, bilateral below-elbow amputations, escharotomies, and excision of affected ribs and cartilages...
March 2017: Plastic and Reconstructive Surgery. Global Open
https://www.readbyqxmd.com/read/28450139/3d-fully-convolutional-networks-for-subcortical-segmentation-in-mri-a-large-scale-study
#9
REVIEW
Jose Dolz, Christian Desrosiers, Ismail Ben Ayed
This study investigates a 3D and fully convolutional neural network (CNN) for subcortical brain structure segmentation in MRI. 3D CNN architectures have been generally avoided due to their computational and memory requirements during inference. We address the problem via small kernels, allowing deeper architectures. We further model both local and global context by embedding intermediate-layer outputs in the final prediction, which encourages consistency between features extracted at different scales and embeds fine-grained information directly in the segmentation process...
April 24, 2017: NeuroImage
https://www.readbyqxmd.com/read/28438458/an-efficient-cumate-inducible-system-for-procyclic-and-bloodstream-form-trypanosoma-brucei
#10
Feng-Jun Li, Zhi-Shen Xu, Htay Mon Aye, Anaïs Brasseur, Zhao-Rong Lun, Kevin S W Tan, Cynthia Y He
In Trypanosoma brucei, the tetracycline-inducible system enables tightly-regulated, highly-efficient expression of recombinant proteins or double-stranded RNA in both procyclic and bloodstream form cells, providing useful molecular genetic tools to study gene functions. An alternative, vanillic acid-inducible system is recently described for procyclic T. brucei, providing ∼18-fold increase in GFP reporter expression upon induction (Sunter JD. Mol. Biochem. Parasitol. 2016, 207:45-48). Here we describe a cumate-inducible system that allows efficient, tunable gene expression showing >300-fold increase in GFP expression upon induction...
April 21, 2017: Molecular and Biochemical Parasitology
https://www.readbyqxmd.com/read/28406708/pack-year-cigarette-smoking-history-for-determination-of-lung-cancer-screening-eligibility-comparison-of-the-electronic-medical-record-versus-a-shared-decision-making-conversation
#11
Hannah E Modin, Joelle T Fathi, Christopher R Gilbert, Candice L Wilshire, Andrew K Wilson, Ralph W Aye, Alexander S Farivar, Brian E Louie, Eric Vallières, Jed A Gorden
RATIONALE: Implementation of lung cancer screening programs is occurring across the United States. Programs vary in approaches to patient identification and shared decision making. The eligibility of persons referred to screening programs, the outcomes of eligibility determination during shared decision making, and the potential for the electronic medical record to identify eligible individuals have not been well described. OBJECTIVES: Our objectives were to assess the eligibility of individuals referred for lung cancer screening, and compare information extracted from the electronic medical record to information derived from a shared decision making conversation for the determination of eligibility for lung cancer screening...
April 13, 2017: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/28399117/disproportionate-cardiac-hypertrophy-during-early-postnatal-development-in-infants-born-preterm
#12
Christina Y L Aye, Adam J Lewandowski, Pablo Lamata, Ross Upton, Esther Davis, Eric O Ohuma, Yvonne Kenworthy, Henry Boardman, Samuel Wopperer, Alice Packham, Satish Adwani, Kenny McCormick, Aris T Papageorghiou, Paul Leeson
BACKGROUND: Adults born very preterm have increased cardiac mass and reduced function. We investigated whether a hypertrophic phenomenon occurs in later preterm infants and when this occurs during early development. METHODS: Cardiac ultrasound was performed on 392 infants (33% preterm at mean gestation 34+/-2 weeks). Scans were performed during fetal development in 137, at birth and three months postnatal age in 200 and during both fetal and postnatal development in 55...
April 11, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28386491/multidrug-resistant-pseudomonas-mycotic-pseudoaneurysm-following-cardiac-transplant-bridged-by-ventricular-assistant-device
#13
C Aye, M Williams, R Horvath
Mycotic pseudoaneurysm of aorta following cardiac surgery is rare but is highly fatal if it is unrecognized and untreated. Here, we report a case of a 45-year-old male patient who presented with rapidly progressive multiple pseudoaneurysms of the ascending aorta infected with multidrug resistant (MDR) Pseudomonas aeruginosa at 5 weeks after cardiac transplantation, on a background of prior bridging therapy with left ventricular assistant device (LVAD). The patient was successfully treated with the newer cephalosporin, Ceftolozane/Tazobactam, in combination with surgery...
2017: Case Reports in Infectious Diseases
https://www.readbyqxmd.com/read/28385497/angptl3-a-gene-a-protein-a-new-target-aye-there-s-the-rub
#14
EDITORIAL
Jacques Genest
No abstract text is available yet for this article.
March 29, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28384224/socio-environmental-exposures-and-health-outcomes-among-persons-with-sickle-cell-disease
#15
Monika R Asnani, Jennifer Knight Madden, Marvin Reid, Lisa-Gaye Greene, Parris Lyew-Ayee
There is much variability in the expression of sickle cell disease (SCD) and recent works suggest that environmental and social factors may also influence this variability. This paper aims to use geographic information systems technology to examine the association between socio-environmental exposures and health outcomes in all persons who have attended or currently attend the Sickle Cell Unit in Jamaica. Rural patients presented for clinical care at older ages and had less annual visits to clinic. Persons travelled relatively long distances to seek SCD care and those travelling longer had less health maintenance visits...
2017: PloS One
https://www.readbyqxmd.com/read/28367656/prevalence-of-anemia-and-hemoglobin-disorders-among-school-children-in-myanmar
#16
Saw Thu Wah, Yoon Shwe Yi, Aye Aye Khin, Chotiros Plabplueng, Pornlada Nuchnoi
The prevalence of anemia is high in the population of Myanmar and hypochromic microcytic anemia (HMA) is predominant. The objective of our study was to determine the prevalence of anemia and causes of HMA among school children. A cross-sectional study was conducted on 239 children from Thanlyin and Insein Townships, Yangon Region, Myanmar. Complete blood count (CBC) and blood film morphology was examined on venous blood samples. Hypochromic microcytic anemia cases were subsequently analyzed for serum ferritin and cellulose acetate hemoglobin (Hb) electrophoresis...
April 2, 2017: Hemoglobin
https://www.readbyqxmd.com/read/28364150/repair-of-symptomatic-paraesophageal-hernias-in-elderly-70%C3%A2-years-patients-results-in-sustained-quality-of-life-at-5%C3%A2-years-and-beyond
#17
Oleg V Merzlikin, Brian E Louie, Alexander S Farivar, Dale Shultz, Ralph W Aye
BACKGROUND: Paraesophageal hernias (PEHs) involve herniation of stomach and/or other viscera into the mediastinum. These commonly occur in the elderly and can severely limit quality of life. Short term outcomes of repaired PEH demonstrated low morbidity and significant improvement in quality of life, but long-term data for all patients, especially the elderly, are lacking. METHODS: Retrospective chart review of a prospectively collected database of patients aged 70 or greater with a symptomatic PEH repaired 5+ years ago...
March 31, 2017: Surgical Endoscopy
https://www.readbyqxmd.com/read/28357909/nitrite-enhances-liver-graft-protection-against-cold-ischemia-reperfusion-injury-through-a-nos-independent-pathway
#18
Amani Cherif-Sayadi, Kaouther Hadj Ayed-Tka, Mohamed Amine Zaouali, Mohamed Bejaoui, Najet Hadj-Abdallah, Ahlem Bouhlel, Hassen Ben Abdennebi
INTRODUCTION: Nitrite has been found to protect liver graft from cold preservation injury. However, the cell signaling pathway involved in this protection remains unclear. Here, we attempt to clarify if the NOS pathway by using the NOS inhibitor, L-NAME (L-N(G)-Nitroarginine methyl ester). ANIMALS AND METHODS: Rat livers were conserved for 24 h at 4°C in (IGL-1) solution enriched or not with nitrite at 50 nM. In a third group, rats were pretreated with 50 mg/kg of L-NAME before their liver procurement and preservation in IGL-1 supplemented with nitrite (50 nM) and L-NAME (1 mM)...
December 2017: Libyan Journal of Medicine
https://www.readbyqxmd.com/read/28352668/genomic-profiling-reveals-mutational-landscape-in-parathyroid-carcinomas
#19
Chetanya Pandya, Andrew V Uzilov, Justin Bellizzi, Chun Yee Lau, Aye S Moe, Maya Strahl, Wissam Hamou, Leah C Newman, Marc Y Fink, Yevgeniy Antipin, Willie Yu, Mark Stevenson, Branca M Cavaco, Bin T Teh, Rajesh V Thakker, Hans Morreau, Eric E Schadt, Robert Sebra, Shuyu D Li, Andrew Arnold, Rong Chen
Parathyroid carcinoma (PC) is an extremely rare malignancy lacking effective therapeutic intervention. We generated and analyzed whole-exome sequencing data from 17 patients to identify somatic and germline genetic alterations. A panel of selected genes was sequenced in a 7-tumor expansion cohort. We show that 47% (8 of 17) of the tumors harbor somatic mutations in the CDC73 tumor suppressor, with germline inactivating variants in 4 of the 8 patients. The PI3K/AKT/mTOR pathway was altered in 21% of the 24 cases, revealing a major oncogenic pathway in PC...
March 23, 2017: JCI Insight
https://www.readbyqxmd.com/read/28352660/tlr7-8-adjuvant-overcomes-newborn-hyporesponsiveness-to-pneumococcal-conjugate-vaccine-at-birth
#20
David J Dowling, Simon D van Haren, Annette Scheid, Ilana Bergelson, Dhohyung Kim, Christy J Mancuso, Willemina Foppen, Al Ozonoff, Lynn Fresh, Terese B Theriot, Andrew A Lackner, Raina N Fichorova, Dmitri Smirnov, John P Vasilakos, Joe M Beaurline, Mark A Tomai, Cecily C Midkiff, Xavier Alvarez, James L Blanchard, Margaret H Gilbert, Pyone Pyone Aye, Ofer Levy
Infection is the most common cause of mortality in early life, and immunization is the most promising biomedical intervention to reduce this burden. However, newborns fail to respond optimally to most vaccines. Adjuvantation is a key approach to enhancing vaccine immunogenicity, but responses of human newborn leukocytes to most candidate adjuvants, including most TLR agonists, are functionally distinct. Herein, we demonstrate that 3M-052 is a locally acting lipidated imidazoquinoline TLR7/8 agonist adjuvant in mice, which, when properly formulated, can induce robust Th1 cytokine production by human newborn leukocytes in vitro, both alone and in synergy with the alum-adjuvanted pneumococcal conjugate vaccine 13 (PCV13)...
March 23, 2017: JCI Insight
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