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https://www.readbyqxmd.com/read/28092308/increasing-incidence-of-crohn-s-disease-with-familial-clustering-in-the-kingdom-of-bahrain-a-25-year-population-based-study
#1
Najah R Zayyani, Hoda M Malaty, David Y Graham
BACKGROUND: The incidence of Crohn's disease has been increasing in developed countries; whether this trend has extended to countries in Middle East, especially in the Arab world, remains unclear. Our aim was to study the epidemiology, incidence, time trends and clustering of Crohn's disease within the population of the Kingdom of Bahrain. METHODS: A retrospective case-cohort study was conducted on patients diagnosed with Crohn's disease at Bahrain Specialist Hospital between 1990 and 2015...
January 12, 2017: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/28091736/salvage-therapy-for-acute-chemorefractory-leukemia-by-allogeneic-stem-cell-transplantation-the-korean-experience
#2
Shin Hye Yoo, Youngil Koh, Dae-Young Kim, Jung-Hee Lee, Je-Hwan Lee, Kyoo-Hyung Lee, Sung-Soo Yoon, Seonyang Park, Sung-Kyu Park, Dae-Sik Hong, Hyeon Gyu Yi, Chul-Soo Kim, Ji Eun Jang, June-Won Cheong, Joonho Moon, Yoo Hong Min, Sang Kyun Sohn, Inho Kim
Little is known about the characteristics that make patients with acute leukemia suitable for undergoing salvage therapy by allogeneic hematopoietic stem cell transplantation (allo-HSCT). Here, we analyzed the clinical outcomes of 223 patients with acute leukemia who underwent allo-HSCT while not in complete remission (CR). The primary end points were overall survival (OS) and CR rate. CR was achieved in 79.8% of patients after allo-HSCT. Acute graft-versus-host disease (GVHD) was significantly associated with CR (P = 0...
January 16, 2017: Annals of Hematology
https://www.readbyqxmd.com/read/28091448/oro-dental-characteristics-of-three-siblings-with-papillon-lefevre-syndrome
#3
O E Gungor, H Karayilmaz, H Yalcin, M Hatipoğlu
Papillon-Lefevre syndrome (PLS) is a rare autosomal recessive disorder, showing oral and dermatological manifestations in the form of aggressive periodontitis, leading to the premature loss of both primary and permanent teeth at a very young age and palmar-plantar hyperkeratosis. It was first described by two French physicians, Papillon and Lefevre in 1924. Immunologic, genetic, or possible bacterial etiologies have been thought to account for etiopathogenesis of PLS. Severe gingival inflammation and periodontal destruction occurred after the eruption of primary teeth...
February 2017: Nigerian Journal of Clinical Practice
https://www.readbyqxmd.com/read/28091440/nocturnal-enuresis-in-school-aged-children-with-sickle-cell-anemia-any-relationship-with-hyposthenuria
#4
C I Eneh, A N Ikefuna, H U Okafor, S N Uwaezuoke
BACKGROUND: Reports show that children with sickle-cell anemia (SCA) have a tendency for nocturnal enuresis when compared with their counterparts with normal hemoglobin. Although nocturnal enuresis in SCA has been attributed to several factors including tubular and even bladder dysfunction, its relationship with hyposthenuria has been questioned in some studies. AIM: The study aims to determine the relationship of hyposthenuria with nocturnal enuresis seen in school-aged children with SCA...
February 2017: Nigerian Journal of Clinical Practice
https://www.readbyqxmd.com/read/28090564/hepatocyte-toll-like-receptor-5-promotes-bacterial-clearance-and-protects-mice-against-high-fat-diet-induced-liver-disease
#5
Lucie Etienne-Mesmin, Matam Vijay-Kumar, Andrew T Gewirtz, Benoit Chassaing
BACKGROUND & AIMS: Innate immune dysfunction can promote chronic inflammatory diseases of the liver. For example, mice lacking the flagellin receptor Toll-like receptor 5 (TLR5) show microbial dysbiosis and predisposition to high-fat diet (HFD)-induced hepatic steatosis. The extent to which hepatocytes play a direct role in detecting bacterial products in general, or flagellin in particular, is poorly understood. In the present study, we investigated the role of hepatocyte TLR5 in recognizing flagellin, policing bacteria, and protecting against liver disease...
September 2016: Cellular and Molecular Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28089922/x-linked-elliptocytosis-with-impaired-growth-is-related-to-mutated-ammecr1
#6
Lina Basel-Vanagaite, Nir Pillar, Ofer Isakov, Pola Smirin-Yosef, Irina Lagovsky, Naama Orenstein, Mali Salmon-Divon, Hannah Tamary, Tami Zaft, Lily Bazak, Joseph Meyerovitch, Tal Pelli, Shay Botchan, Luba Farberov, Daphna Weissglas, Noam Shomron
In this study, we report a family with X-linked recessive syndrome caused by mutated AMMECR1 and characterized by elliptocytosis with or without anemia, midface hypoplasia, proportionate short stature and hearing loss. Recently, mutations in AMMECR1 were reported in two maternal half-brothers, presenting with nephrocalcinosis, midface hypoplasia and, in one of the siblings, deafness and elliptocytosis. AMMECR1 gene is localized in the critical region of contiguous deletion syndrome on Xq22.3 implicated in Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis (AMME complex)...
January 9, 2017: Gene
https://www.readbyqxmd.com/read/28089324/the-peculiar-functions-of-the-bacterial-extracellular-matrix
#7
REVIEW
Anna Dragoš, Ákos T Kovács
A biofilm is a common life form where bacterial cells crowd together surrounded by an extracellular matrix (ECM). Traditionally, the ECM is considered as a structural material that glues and shields the biofilm cells. Here we describe alternative functions of the ECM, highlighting how it benefits microbes beyond the biofilms. Next to protecting free-living cells, the ECM participates in signaling, migration, and genetic exchange either being freely shared with other species or being exclusive to siblings. Considering the structural and recently discovered functions of the ECM, we also attempt to revise its role in sociomicrobiology...
January 11, 2017: Trends in Microbiology
https://www.readbyqxmd.com/read/28088283/quantification-of-plasma-sulfatides-by-mass-spectrometry-utility-for-metachromatic-leukodystrophy
#8
Jennifer T Saville, Nicholas J C Smith, Janice M Fletcher, Maria Fuller
Impaired sulfatide catabolism is the primary biochemical insult in patients with the inherited neurodegenerative disease, metachromatic leukodystrophy (MLD), and sulfatide elevation in body fluids is useful in the diagnostic setting. Here we used mass spectrometry to quantify fourteen species of sulfatide, in addition to the deacetylated derivative, lyso-sulfatide, using high pressure liquid chromatography-electrospray ionisation-tandem mass spectrometry in both positive and negative ion mode. A single phase extraction of 0...
February 22, 2017: Analytica Chimica Acta
https://www.readbyqxmd.com/read/28081121/isolation-of-novel-trypanosomatid-zelonia-australiensis-sp-nov-kinetoplastida-trypanosomatidae-provides-support-for-a-gondwanan-origin-of-dixenous-parasitism-in-the-leishmaniinae
#9
Joel Barratt, Alexa Kaufer, Bryce Peters, Douglas Craig, Andrea Lawrence, Tamalee Roberts, Rogan Lee, Gary McAuliffe, Damien Stark, John Ellis
The genus Leishmania includes approximately 53 species, 20 of which cause human leishmaniais; a significant albeit neglected tropical disease. Leishmaniasis has afflicted humans for millennia, but how ancient is Leishmania and where did it arise? These questions have been hotly debated for decades and several theories have been proposed. One theory suggests Leishmania originated in the Palearctic, and dispersed to the New World via the Bering land bridge. Others propose that Leishmania evolved in the Neotropics...
January 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28080169/family-oriented-support-famos-development-and-feasibility-of-a-psychosocial-intervention-for-families-of-childhood-cancer-survivors
#10
Hanin Salem, Christoffer Johansen, Kjeld Schmiegelow, Jeanette Falck Winther, Peder Skov Wehner, Henrik Hasle, Steen Rosthøj, Anne E Kazak, Pernille E Bidstrup
BACKGROUND: We developed and tested the feasibility of a manualized psychosocial intervention, FAMily-Oriented Support (FAMOS), a home-based psychosocial intervention for families of childhood cancer survivors. The aim of the intervention is to support families in adopting healthy strategies to cope with the psychological consequences of childhood cancer. The intervention is now being evaluated in a nationwide randomized controlled trial (RCT). METHODS AND DESIGN: FAMOS is based on principles of family systems therapy and cognitive behavioral therapy, and is delivered in six sessions at home...
January 12, 2017: Acta Oncologica
https://www.readbyqxmd.com/read/28079130/association-of-nsv823469-copy-number-loss-with-decreased-risk-of-chronic-obstructive-pulmonary-disease-and-pulmonary-function-in-chinese
#11
Xiaoliang Chen, Xiaoxiao Lu, Jiansong Chen, Di Wu, Fuman Qiu, Huali Xiong, Zihua Pan, Lei Yang, Binyao Yang, Chenli Xie, Yifeng Zhou, Dongsheng Huang, Yumin Zhou, Jiachun Lu
It is highly possible that copy number variations (CNVs) in susceptible regions have effects on chronic obstructive pulmonary disease (COPD) development, while long noncoding RNA (lncRNAs) have been shown to cause COPD. We hypothesized that the common CNV, named nsv823469 located on 6p22.1, and covering lncRNAs (major histocompatibility complex, class I, A (HLA-A) and HLA complex group 4B (HCG4B)) has an effect on COPD risk. This association was assessed through a two-stage case-control study, and was further confirmed with COPD and pulmonary function-based family analyses, respectively...
January 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28078623/identification-of-host-fruit-volatiles-from-snowberry-symphoricarpos-albus-attractive-to-rhagoletis-zephyria-flies-from-the-western-united-states
#12
Dong H Cha, Shannon B Olsson, Wee L Yee, Robert B Goughnour, Glen R Hood, Monte Mattsson, Dietmar Schwarz, Jeffrey L Feder, Charles E Linn
A mixture of behaviorally active volatiles was identified from the fruit of snowberry, Symphoricarpos albus laevigatus, for Rhagoletis zephyria flies reared from snowberry fruit. A nine-component blend containing 3-methylbutan-1-ol (3%), dimethyl trisulfide (1%), 1-octen-3-ol (40%), myrcene (8%), nonanal (9%), linalool (13%), (3E)-4,8-dimethyl-1,3,7-nonatriene (DMNT, 6%), decanal (15%), and β-caryophyllene (5%) was identified that gave consistent electroantennogram activity and was behaviorally active in flight tunnel tests...
January 11, 2017: Journal of Chemical Ecology
https://www.readbyqxmd.com/read/28078194/trauma-exposed-latina-immigrants-networks-a-social-network-analysis-approach
#13
Alejandra Hurtado-de-Mendoza, Adriana Serrano, Felisa A Gonzales, Nicole C Fernandez, Mark Cabling, Stacey Kaltman
OBJECTIVE: Trauma exposure among Latina immigrants is common. Social support networks can buffer the impact of trauma on mental health. This study characterizes the social networks of trauma-exposed Latina immigrants using a social network analysis perspective. METHODS: In 2011-2012 a convenience sample (n=28) of Latina immigrants with trauma exposure and presumptive depression or posttraumatic stress disorder was recruited from a community clinic in Washington DC...
November 2016: Journal of Latina/o Psychology
https://www.readbyqxmd.com/read/28078069/skeletal-muscle-microalterations-in-patients-carrying-malignant-hyperthermia-related-mutations-of-the-e-c-coupling-machinery
#14
Manuela Lavorato, Pawan K Gupta, Philip M Hopkins, Clara Franzini-Armstrong
We have compared the ultrastructure of skeletal muscle biopsies from patients that have survived a [Malignant Hyperthermia, MH] episode and siblings that test positive for MH susceptibility with those from siblings that tested negatives. The aim is to establish whether life long exposure to the MH-related mutation effects may result in subtle abnormalities even in the absence of active episodes and/or clinically detectable deficiencies. Although a specific ultrastructural signature for MH mutants cannot be demonstrated, an MH related pattern of minor alterations does exist...
September 15, 2016: European Journal of Translational Myology
https://www.readbyqxmd.com/read/28077167/role-of-anopheles-cellia-rufipes-gough-1910-and-other-local-anophelines-in-human-malaria-transmission-in-the-northern-savannah-of-cameroon-a-cross-sectional-survey
#15
Raymond N Tabue, Parfait Awono-Ambene, Josiane Etang, Jean Atangana, Antonio-Nkondjio C, Jean C Toto, Salomon Patchoke, Rose G F Leke, Etienne Fondjo, Abraham P Mnzava, Tessa B Knox, Alexis Tougordi, Martin J Donnelly, Jude D Bigoga
BACKGROUND: As part of a study to determine the impact of insecticide resistance on the effectiveness of long-lasting insecticide treated nets (LLINs) in the north of Cameroon, the unexpectedly high density and anthropophilic behaviour of Anopheles rufipes lead us to investigate this species bionomics and role in human malaria parasite transmission. METHODS: For four consecutive years (2011-2014), annual cross-sectional sampling of adult mosquitoes was conducted during the peak malaria season (September-October) in three health districts in northern Cameroon...
January 11, 2017: Parasites & Vectors
https://www.readbyqxmd.com/read/28076318/beta-cell-function-and-clinical-course-in-three-siblings-with-thiamine-responsive-megaloblastic-anemia-trma-treated-with-thiamine-supplementation
#16
Kathryn Potter, John Wu, Julie Lauzon, Josephine Ho
Three siblings with thiamine-responsive megaloblastic anemia (TRMA) with a homozygous c.454delGGCATinsAT mutation in SLC19A2 are described. The index case presented at 14 months' old with severe non-ketotic hyperglycemia, dehydration, seizures and sinovenous thrombosis. She was started on insulin and developed sensorineural hearing loss around 2 years old. Two siblings were found to have the same mutation and were started on thiamine. One sibling developed transient hyperglycemia after several years of thiamine supplementation of 12 mg/kg that resolved with an increased thiamine dose (23 mg/kg)...
January 11, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28075530/dysregulation-of-pldn-pallidin-is-a-mechanism-for-platelet-dense-granule-deficiency-in-runx1-haplodeficiency
#17
G F Mao, L E Goldfinger, D C Fan, M P Lambert, G Jalagadugula, R Freishtat, A K Rao
BACKGROUND: Inherited RUNX1 haplodeficiency is associated with thrombocytopenia and platelet dysfunction. Dense granule (DG) deficiency is reported in patients with RUNX1 haplodeficiency, but the molecular mechanisms are unknown. Platelet mRNA expression profiling in a patient previously reported by us with a RUNX1 mutation and platelet dysfunction showed decreased expression of PLDN (BLOC1S6), which encodes for pallidin, a subunit of BLOC-1 (biogenesis of lysosome-related organelles complex-1) involved in granule biogenesis...
January 11, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28074523/familial-gastrointestinal-stromal-tumors-lentigines-and-caf%C3%A3-au-lait-macules-associated-with-germline-c-kit-mutation-treated-with-imatinib
#18
Divya Gupta, Laxmisha Chandrashekar, Lidia Larizza, Elisa A Colombo, Laura Fontana, Cristina Gervasini, Devinder M Thappa, Medha Rajappa, Kalai Selvi Rajendiran, Gubbi Shamanna Sreenath, Vikram Kate
BACKGROUND: Familial lentiginosis syndromes are characterized by a wide array of manifestations resulting from activation of molecular pathways which control growth, proliferation, and differentiation of a broad range of tissues. Familial gastrointestinal stromal tumors (GISTs) are often accompanied by additional features like hyperpigmentation, mastocytosis, and dysphagia. They have been described with mutations in c-kit (most commonly), platelet-derived growth factor receptor A, neurofibromatosis-1, and succinate dehydrogenase genes...
February 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/28073927/new-insights-into-the-genetics-of-primary-open-angle-glaucoma-based-on-meta-analyses-of-intraocular-pressure-and-optic-disc-characteristics
#19
Henriët Springelkamp, Adriana I Iglesias, Aniket Mishra, René Höhn, Robert Wojciechowski, Anthony P Khawaja, Abhishek Nag, Ya Xing Wang, Jie Jin Wang, Gabriel Cuellar-Partida, Jane Gibson, Jessica N Cooke Bailey, Eranga N Vithana, Puya Gharahkhani, Thibaud Boutin, Wishal D Ramdas, Tanja Zeller, Robert N Luben, Ekaterina Yonova-Doing, Ananth C Viswanathan, Seyhan Yazar, Angela J Cree, Jonathan L Haines, Jia Yu Koh, Emmanuelle Souzeau, James F Wilson, Najaf Amin, Christian Müller, Cristina Venturini, Lisa S Kearns, Jae Hee Kang, Neighborhood Consortium, Yih Chung Tham, Tiger Zhou, Elisabeth M van Leeuwen, Stefan Nickels, Paul Sanfilippo, Jiemin Liao, Herma van der Linde, Wanting Zhao, Leonieke M E van Koolwijk, Li Zheng, Fernando Rivadeneira, Mani Baskaran, Sven J van der Lee, Shamira Perera, Paulus T V M de Jong, Ben A Oostra, André G Uitterlinden, Qiao Fan, Albert Hofman, E- Shyong Tai, Johannes R Vingerling, Xueling Sim, Roger C W Wolfs, Yik Ying Teo, Hans G Lemij, Chiea Chuen Khor, Rob Willemsen, Karl J Lackner, Tin Aung, Nomdo M Jansonius, Grant Montgomery, Philipp S Wild, Terri L Young, Kathryn P Burdon, Pirro G Hysi, Louis R Pasquale, Tien Yin Wong, Caroline C W Klaver, Alex W Hewitt, Jost B Jonas, Paul Mitchell, Andrew J Lotery, Paul J Foster, Veronique Vitart, Norbert Pfeiffer, Jamie E Craig, David A Mackey, Christopher J Hammond, Janey L Wiggs, Ching-Yu Cheng, Cornelia M van Duijn, Stuart MacGregor
Primary open-angle glaucoma (POAG), the most common optic neuropathy, is a heritable disease. Siblings of POAG cases have a ten-fold increase risk of developing the disease. Intraocular pressure (IOP) and optic nerve head characteristics are used clinically to predict POAG risk. We conducted a genome-wide association meta-analysis of IOP and optic disc parameters and validated our findings in multiple sets of POAG cases and controls. Using imputation to the 1000 genomes (1000G) reference set, we identified 9 new genomic regions associated with vertical cup disc ratio (VCDR) and 1 new region associated with IOP...
January 10, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28073829/dutpase-dut-is-mutated-in-a-novel-monogenic-syndrome-with-diabetes-and-bone-marrow-failure
#20
Reinaldo Sousa Dos Santos, Mathilde Daures, Anne Philippi, Sophie Romero, Lorella Marselli, Piero Marchetti, Valérie Senée, Delphine Bacq, Céline Besse, Baz Baz, Laura Marroquí, Sarah Ivanoff, Julien Masliah-Planchon, Marc Nicolino, Jean Soulier, Gérard Socié, Decio L Eizirik, Jean-François Gautier, Cécile Julier
We describe a new syndrome characterized by early onset diabetes mellitus, associated with bone marrow failure affecting mostly the erythrocytic lineage. Using whole exome sequencing in a remotely consanguineous patient from a family with two affected siblings, we identified a single homozygous missense mutation (chr15.hg19:g.48,626,619A>G) located in the dUTPase (DUT) gene (NCBI Gene ID: 1854), affecting both the mitochondrial (DUT-M p.Y142C) and the nuclear (DUT-N p.Y54C) isoforms. We found the same homozygous mutation in an unrelated consanguineous patient with diabetes and bone marrow aplasia from a family with two affected siblings, while none of the >60,000 subjects from the Exome Aggregation Consortium (ExAC) was homozygous for this mutation...
January 10, 2017: Diabetes
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