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Rodolfo Martín-Del-Campo, Annelisse Bárcenas-Ibarra, Itzel Sifuentes-Romero, Raúl Llera-Herrera, Alejandra García-Gasca
Normal development involves the interplay of genetic and epigenetic regulatory mechanisms. Pax6 is an eye-selector factor responsible for initiating the regulatory cascade for the development of the eyes. For the olive ridley sea turtle (Lepidochelys olivacea), a threatened species, eye malformations have been reported. In order to study the DNA methylation status of the putative promoter of the Pax6 gene in embryos with ocular malformations, an exploratory study was carried out in which DNA was isolated from embryos with anophthalmia, microphthalmia, and cyclopia, as well as from their normal counterparts...
August 12, 2018: Mechanisms of Development
Jean Vannier, Cédric Aria, Rod S Taylor, Jean-Bernard Caron
Waptia fieldensis Walcott, 1912 is one of the iconic animals from the middle Cambrian Burgess Shale biota that had lacked a formal description since its discovery at the beginning of the twentieth century. This study, based on over 1800 specimens, finds that W. fieldensis shares general characteristics with pancrustaceans, as previous authors had suggested based mostly on its overall aspect. The cephalothorax is covered by a flexible, bivalved carapace and houses a pair of long multisegmented antennules, palp-bearing mandibles, maxillules, and four pairs of appendages with five-segmented endopods-the anterior three pairs with long and robust enditic basipods, the fourth pair with proximal annulations and lamellae...
June 2018: Royal Society Open Science
Jiajun Liu, Wei Luo, Nana Qin, Puyang Ding, Han Zhang, Congcong Yang, Yang Mu, Huaping Tang, Yaxi Liu, Wei Li, Qiantao Jiang, Guoyue Chen, Yuming Wei, Youliang Zheng, Chunji Liu, Xiujin Lan, Jian Ma
A high-density genetic map constructed with a wheat 55 K SNP array was highly consistent with the physical map of this species and it facilitated the identification of a novel major QTL for productive tiller number. Productive tiller number (PTN) plays a key role in wheat grain yield. In this study, a recombinant inbred line population with 199 lines derived from a cross between '20828' and 'Chuannong16' was used to construct a high-density genetic map using wheat 55 K single nucleotide polymorphism (SNP) array...
August 14, 2018: TAG. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik
Carlos Salazar, Nelson Kanter Md, Amer Abboud
Malignant pleural mesothelioma (MPM) is a rare neoplasm. It predominantly affects elderly individuals aged over 70 years presenting with a unilateral pleural tumor usually associated with previous asbestos exposure. The respiratory symptoms are associated with ipsilateral pleural involvement with concomitant pleural effusions. The diagnosis of MPM is established by the morphologic and immunohistochemical features of a cytologic specimen. MPM can present as three histologic subtypes: epithelioid, sarcomatoid, or biphasic...
June 6, 2018: Curēus
Francesco Santoro, Alessandra Romeo, Gianni Pozzi, Francesco Iannelli
The integrative conjugative element (ICE) Tn 5253 of Streptococcus pneumoniae , conferring resistance to tetracycline and chloramphenicol, was found integrated at a 83-bp specific target site ( att B) located in the rbgA gene of the pneumococcal chromosome. PCR analysis of Tn 5253 -carrying strains showed evidence of precise excision of Tn 5253 from the pneumococcal chromosome with production of (i) circular forms of the ICE in which the ends were joined by a 84-bp sequence ( att Tn), and (ii) reconstituted chromosomal att B...
2018: Frontiers in Microbiology
Soo-Jeong Cho, Changhwan Yoon, Jun-Ho Lee, Kevin K Chang, Jian-Xian Lin, Young Ho Kim, Myeong-Cherl Kook, Bülent A Aksoy, Do Joong Park, Hassan Ashktorab, Duane Smoot, Nikolaus Schultz, Sam S Yoon
PURPOSE: Lauren diffuse type gastric adenocarcinoma (DGA) is genomically stable. We identified lysine (K)-specific methyltransferase 2C ( KMT2C ) as a frequently mutated gene and examined its role in DGA progression. EXPERIMENTAL DESIGN AND RESULTS: Whole exome sequencing on tumor samples of 27 patients with DGA who underwent gastrectomy and identified lysine (K)-specific methyltransferase 2C ( KMT2C ) as mutated in 11 of 27 tumors (41%). This high frequency of KMT2C mutations in DGA has not been found in prior studies...
August 14, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
Xin Sui, Shijian Deng, Mengmeng Liu, Linlin Fan, Yunfei Wang, Huaxing Xu, Yao Sun, Anil Kishen, Qi Zhang
BACKGROUND/AIMS: Activation of the Wnt/β-catenin signalling pathway has been widely investigated in bone biology and shown to promote bone formation. However, its specific effects on osteoclast differentiation have not been fully elucidated. Our study aimed to identify the role of β-catenin in osteoclastogenesis and bone homeostasis. METHODS: In the present study, exon 3 in the β-catenin gene (Ctnnb1) allele encoding phosphorylation target serine/threonine residues was flanked by floxP sequences...
August 14, 2018: Cellular Physiology and Biochemistry
Hana Aldaajani, Salma Albahrani, Khalid Saleh, Khawla Alghanim
A 43-year-old man with Hashimoto's thyroiditis and previous thromboembolic events treated with warfarin for 6 months, presented with right flank pain accompanied with vomiting, dizziness, and altered mental status 2 weeks after discontinuation of warfarin. His clinical examination findings were unremarkable. Routine blood work showed lymphopenia, thrombocytopenia, and hypoosmolar hyponatremia. Random serum cortisol level was low (14 nmol/L). Computed tomography scan of the abdomen revealed bilateral bulky heterogeneous suprarenal gland surrounded by fat stranding representing adrenal hemorrhage...
August 2018: Saudi Medical Journal
Tomoya Yamasaki, Takashi Yoshioka, Masaya Imoto, Hiroshi Aoki, Kei Fujio, Shinya Uehara, Hideo Otsuki
We present a case of a 45-year-old female who experienced rupture of a right calyceal diverticulum caused by ureteroscopy. Fifteen hours after the operation, she had severe right flank pain and a high fever (38.9°C). Computed tomography revealed perinephric extravasation of urine and bleeding inside the diverticulum. We diagnosed rupture of a calyceal diverticulum; therefore, we continued antibiotic administration and pain relief medication. She became afebrile on postoperative day 4 and was discharged from the hospital on postoperative day 7...
2018: Case Reports in Urology
Xufeng Peng, Wenqiang Luo, Xinru Zhang, Weidong Zhu
Background: Acute abdominal pain is a common complaint of patients presenting at the emergency department (ED). It can be caused by a broad spectrum of diseases. Providing care for patients with acute abdominal pain requires familiarity with the epidemiology, prevalence, and presentation of abdominal pathology, as well as a working knowledge of the differential diagnoses. Case report: In this article, we discuss a case of spontaneous rupture of adrenal hemangioma with large retroperitoneal hemorrhage in a 31-year-old female...
2018: Journal of Pain Research
Hulya Nalcacioglu, Meltem Ceyhan Bilgici, Demet Tekcan, Gurkan Genc, Yakup Bostanci, Yarkin Kamil Yakupoglu, Saban Sarikaya, Ozan Ozkaya
The purpose of this study was to evaluate the clinical characteristics of 44 pediatric patients who were diagnosed as having nutcracker syndrome (NCS). We also investigated the left renal vein Doppler ultrasonography (DUS) results, to determine whether or not there was an association between clinical symptoms and DUS findings among these patients. The clinical data from 44 pediatric patients who were diagnosed as having NCS from January 2008 to December 2015 were retrospectively reviewed. We grouped the patients according to the presenting symptoms as symptomatic (loin pain; macroscopic hematuria or both) and non-symptomatic (microscopic hematuria and proteinuria were detected incidentally) and evaluated the left renal vein DUS indices in these two groups separately...
August 13, 2018: Journal of Clinical Medicine
Guilhem Faure, Sergey A Shmakov, Kira S Makarova, Yuri I Wolf, Alexandra B Crawley, Rodolphe Barrangou, Eugene V Koonin
Trans-activating CRISPR (tracr) RNA is a distinct RNA species that interacts with the CRISPR (cr) RNA to form the dual guide (g) RNA in type II and subtype V-B CRISPR-Cas systems. The tracrRNA-crRNA interaction is essential for pre-crRNA processing as well as target recognition and cleavage. The tracrRNA consists of an antirepeat, which forms an imperfect hybrid with the repeat in the crRNA, and a distal region containing a Rho-independent terminator. Exhaustive comparative analysis of the sequences and predicted structures of the Class 2 CRISPR guide RNAs shows that all these guide RNAs share distinct structural features, in particular, the nexus stem-loop that separates the repeat-antirepeat hybrid from the distal portion of the tracrRNA and the conserved GU pair at that end of the hybrid...
August 14, 2018: RNA Biology
John A Kalapurakal, Mahesh Gopalakrishnan, Matthew Mille, Irene Helenowski, Susan Peterson, Cynthia Rigsby, Fran Laurie, Jae Won Jung, Thomas J Fitzgerald, Choonsik Lee
PURPOSE: This pilot study was done to determine the feasibility and accuracy of University of Florida/National Cancer Institute (UF/NCI) phantoms and Monte Carlo (MC) retrospective dosimetry and had two aims: (1) to determine the anatomic accuracy of UF/NCI phantoms by comparing 3D organ doses in National Wilms Tumor Study (NWTS) patient-matched UF/NCI phantoms to organ doses in corresponding patient-matched CT scans and (2) to compare infield and out-of-field organ dosimetry using two dosimetry methods-standard radiation therapy (RT) treatment planning systems (TPS) and MC dosimetry in these two anatomic models...
August 12, 2018: Pediatric Blood & Cancer
Jinghong Zuo, Jindong Liu, Fengmei Gao, Guihong Yin, Zhi Wang, Fengying Chen, Xiaoying Li, Jimei Xu, Tiantian Chen, Lei Li, Yu Li, Xianchun Xia, Hong Cao, Yongxiu Liu
Long-term storage of seeds leads to lose seed vigor with slow and non-uniform germination. Time, rate, homogeneity, and synchrony are important aspects during the dynamic germination process to assess seed viability after storage. The aim of this study is to identify quantitative trait loci (QTLs) using a high-density genetic linkage map of common wheat ( Triticum aestivum ) for seed vigor-related traits under artificial aging. Two hundred and forty-six recombinant inbred lines derived from the cross between Zhou 8425B and Chinese Spring were evaluated for seed storability...
2018: Frontiers in Plant Science
Mika M Tabata, Roberto A Novoa, Kathryn J Martires
The association of malignant lymphomas with non-necrotic epithelioid granulomas has been reported rarely since 1977. Hodgkin's disease-associated widespread cutaneous granuloma annulare (GA) has been reported in only eight patients. We report the second case of subcutaneous GA associated with Hodgkin's disease. A 73-year-old man with Epstein-Barr virus-associated Hodgkin's lymphoma and paraneoplastic subcutaneous GA, presented 3 months after the diagnosis of malignancy. Examination revealed a large, broad erythematous, indurated, subcutaneous plaque spanning the majority of the left lower back and flank with no associated symptoms...
August 11, 2018: BMJ Case Reports
Janet H T Song, Craig B Lowe, David M Kingsley
Bipolar disorder (BD) and schizophrenia (SCZ) are highly heritable diseases that affect more than 3% of individuals worldwide. Genome-wide association studies have strongly and repeatedly linked risk for both of these neuropsychiatric diseases to a 100 kb interval in the third intron of the human calcium channel gene CACNA1C. However, the causative mutation is not yet known. We have identified a human-specific tandem repeat in this region that is composed of 30 bp units, often repeated hundreds of times. This large tandem repeat is unstable using standard polymerase chain reaction and bacterial cloning techniques, which may have resulted in its incorrect size in the human reference genome...
July 27, 2018: American Journal of Human Genetics
Sofia Bhatia, Shiwali Goyal, Indu R Singh, Daljit Singh, Vanita Vanita
PURPOSE: To identify the underlying genetic defect for non-syndromic autosomal dominant retinitis pigmentosa (adRP) with incomplete penetrance in a North Indian family. METHODS: Family history and clinical data were collected. Linkage analysis using 72 fluorescently labeled microsatellite markers flanking all the 26 candidate genes known for adRP was performed. Mutation screening in candidate gene at the mapped region was performed by bi-directional DNA sequencing...
August 11, 2018: Documenta Ophthalmologica. Advances in Ophthalmology
M Z Jankovic, V Dobricic, N Kresojevic, V Markovic, I Petrovic, M Svetel, T Pekmezovic, I Novakovic, V Kostic
Mutations in the PARK2 (PRKN) gene are the most common cause of autosomal-recessive (AR) juvenile parkinsonism and young-onset Parkinson's disease (YOPD). >100 different variants have been reported, including point mutations, small indels and single or multiple exon copy number variations. Mutation screening of PARK2 was performed in 225 Serbian PD patients (143 males and 82 females) with disease onset before 50 years and/or positive family history with apparent AR inheritance. All coding regions and their flanking intronic sequences were amplified and directly sequenced...
July 24, 2018: Journal of the Neurological Sciences
Hongbo Cheng, Tao Wang, Gaigai Wang, Jiaxiong Wang, Liyan Shen, Mutian Han, Shenmin Yang, Yichao Shi, Wei Wang, Hong Li
OBJECTIVE: To detect FOXL2 gene mutation in a Chinese pedigree affected with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) type I, and to explore its genotype-phenotype correlation. METHODS: Peripheral blood samples were obtained from 3 patients and 19 healthy members from the pedigree for the isolation of genomic DNA. All exons and flanking sequences of the FOXL2 gene were amplified by PCR with 7 pairs of overlapping primers and sequenced. RESULTS: DNA sequencing indicated that the BPES phenotype in this pedigree was caused by a hotspot c...
August 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Shirong Li, Yongping Chen, Xiaoqin Yuan, Qianqian Wei, Ruwei Ou, Xiaojing Gu, Huifang Shang
OBJECTIVE: To detect potential mutations of the spastic ataxia of Charlevoix-Saguenay (SACS) gene in a pedigree affected with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). METHODS: Genomic DNA was extracted from peripheral blood samples of the proband and her family members. All exons and flanking sequences of the SACS gene were analyzed by high-throughput sequencing. Suspected mutations were verified with Sanger sequencing. RESULTS: Next generation sequencing revealed novel compound heterozygous mutations of the SACS gene, namely c...
August 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
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