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https://www.readbyqxmd.com/read/28437556/inheritance-of-bacterial-spot-resistance-in-capsicum-annuum-var-annuum
#1
L R A Silva, R Rodrigues, S Pimenta, J W S Correa, M S B Araújo, C S Bento, C P Sudré
Since 2008, Brazil is the largest consumer of agrochemicals, which increases production costs and risks of agricultural products, environment, and farmers' contamination. Sweet pepper, which is one of the main consumed vegetables in the country, is on top of the list of the most sprayed crops. The bacterial spot, caused by Xanthomonas spp, is one of the most damaging diseases of pepper crops. Genetic resistant consists of a suitable way of disease control, but development of durable resistant cultivars as well as understanding of plant-bacterium interaction is being a challenge for plant breeders and pathologists worldwide...
April 20, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28436984/genomic-analyses-identify-hundreds-of-variants-associated-with-age-at-menarche-and-support-a-role-for-puberty-timing-in-cancer-risk
#2
Felix R Day, Deborah J Thompson, Hannes Helgason, Daniel I Chasman, Hilary Finucane, Patrick Sulem, Katherine S Ruth, Sean Whalen, Abhishek K Sarkar, Eva Albrecht, Elisabeth Altmaier, Marzyeh Amini, Caterina M Barbieri, Thibaud Boutin, Archie Campbell, Ellen Demerath, Ayush Giri, Chunyan He, Jouke J Hottenga, Robert Karlsson, Ivana Kolcic, Po-Ru Loh, Kathryn L Lunetta, Massimo Mangino, Brumat Marco, George McMahon, Sarah E Medland, Ilja M Nolte, Raymond Noordam, Teresa Nutile, Lavinia Paternoster, Natalia Perjakova, Eleonora Porcu, Lynda M Rose, Katharina E Schraut, Ayellet V Segrè, Albert V Smith, Lisette Stolk, Alexander Teumer, Irene L Andrulis, Stefania Bandinelli, Matthias W Beckmann, Javier Benitez, Sven Bergmann, Murielle Bochud, Eric Boerwinkle, Stig E Bojesen, Manjeet K Bolla, Judith S Brand, Hiltrud Brauch, Hermann Brenner, Linda Broer, Thomas Brüning, Julie E Buring, Harry Campbell, Eulalia Catamo, Stephen Chanock, Georgia Chenevix-Trench, Tanguy Corre, Fergus J Couch, Diana L Cousminer, Angela Cox, Laura Crisponi, Kamila Czene, George Davey Smith, Eco J C N de Geus, Renée de Mutsert, Immaculata De Vivo, Joe Dennis, Peter Devilee, Isabel Dos-Santos-Silva, Alison M Dunning, Johan G Eriksson, Peter A Fasching, Lindsay Fernández-Rhodes, Luigi Ferrucci, Dieter Flesch-Janys, Lude Franke, Marike Gabrielson, Ilaria Gandin, Graham G Giles, Harald Grallert, Daniel F Gudbjartsson, Pascal Guénel, Per Hall, Emily Hallberg, Ute Hamann, Tamara B Harris, Catharina A Hartman, Gerardo Heiss, Maartje J Hooning, John L Hopper, Frank Hu, David J Hunter, M Arfan Ikram, Hae Kyung Im, Marjo-Riitta Järvelin, Peter K Joshi, David Karasik, Manolis Kellis, Zoltan Kutalik, Genevieve LaChance, Diether Lambrechts, Claudia Langenberg, Lenore J Launer, Joop S E Laven, Stefania Lenarduzzi, Jingmei Li, Penelope A Lind, Sara Lindstrom, YongMei Liu, Jian'an Luan, Reedik Mägi, Arto Mannermaa, Hamdi Mbarek, Mark I McCarthy, Christa Meisinger, Thomas Meitinger, Cristina Menni, Andres Metspalu, Kyriaki Michailidou, Lili Milani, Roger L Milne, Grant W Montgomery, Anna M Mulligan, Mike A Nalls, Pau Navarro, Heli Nevanlinna, Dale R Nyholt, Albertine J Oldehinkel, Tracy A O'Mara, Sandosh Padmanabhan, Aarno Palotie, Nancy Pedersen, Annette Peters, Julian Peto, Paul D P Pharoah, Anneli Pouta, Paolo Radice, Iffat Rahman, Susan M Ring, Antonietta Robino, Frits R Rosendaal, Igor Rudan, Rico Rueedi, Daniela Ruggiero, Cinzia F Sala, Marjanka K Schmidt, Robert A Scott, Mitul Shah, Rossella Sorice, Melissa C Southey, Ulla Sovio, Meir Stampfer, Maristella Steri, Konstantin Strauch, Toshiko Tanaka, Emmi Tikkanen, Nicholas J Timpson, Michela Traglia, Thérèse Truong, Jonathan P Tyrer, André G Uitterlinden, Digna R Velez Edwards, Veronique Vitart, Uwe Völker, Peter Vollenweider, Qin Wang, Elisabeth Widen, Ko Willems van Dijk, Gonneke Willemsen, Robert Winqvist, Bruce H R Wolffenbuttel, Jing Hua Zhao, Magdalena Zoledziewska, Marek Zygmunt, Behrooz Z Alizadeh, Dorret I Boomsma, Marina Ciullo, Francesco Cucca, Tõnu Esko, Nora Franceschini, Christian Gieger, Vilmundur Gudnason, Caroline Hayward, Peter Kraft, Debbie A Lawlor, Patrik K E Magnusson, Nicholas G Martin, Dennis O Mook-Kanamori, Ellen A Nohr, Ozren Polasek, David Porteous, Alkes L Price, Paul M Ridker, Harold Snieder, Tim D Spector, Doris Stöckl, Daniela Toniolo, Sheila Ulivi, Jenny A Visser, Henry Völzke, Nicholas J Wareham, James F Wilson, Amanda B Spurdle, Unnur Thorsteindottir, Katherine S Pollard, Douglas F Easton, Joyce Y Tung, Jenny Chang-Claude, David Hinds, Anna Murray, Joanne M Murabito, Kari Stefansson, Ken K Ong, John R B Perry
The timing of puberty is a highly polygenic childhood trait that is epidemiologically associated with various adult diseases. Using 1000 Genomes Project-imputed genotype data in up to ∼370,000 women, we identify 389 independent signals (P < 5 × 10(-8)) for age at menarche, a milestone in female pubertal development. In Icelandic data, these signals explain ∼7.4% of the population variance in age at menarche, corresponding to ∼25% of the estimated heritability. We implicate ∼250 genes via coding variation or associated expression, demonstrating significant enrichment in neural tissues...
April 24, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28436749/differential-diagnosis-of-neonatal-alloimmune-thrombocytopenia-type-2b-von-willebrand-disease
#3
Mathilde Penel-Page, Sandrine Meunier, Mathilde Fretigny, Sandra Le Quellec, Pierre Boisseau, Christine Vinciguerra, Catherine Ternisien, Lucia Rugeri
At birth, severe thrombocytopenia without context of infection should mainly suggest neonatal alloimmune thrombocytopenia (NAIT), especially in case of a platelet count below 20 GL(-1). We report two cases of severe neonatal thrombocytopenia, first suspected as being NAIT. Both had a platelet count below 20 GL(-1) with platelet clumps. The absence of alloantibodies and failure of platelet transfusion and intravenous immunoglobulins to improve the platelet count led to question the diagnosis and to evoke inherited bleeding disorders...
April 24, 2017: Platelets
https://www.readbyqxmd.com/read/28435820/costs-of-hospital-admission-on-primary-immunodeficiency-diseases
#4
Kheirollah Gholami, Elaheh Laali, Hassan Abolhassani, Alireza Ahmadvand, Niayesh Mohebbi, Mohammad Reza Javadi, Asghar Aghamohammadi, Nima Rezaei
BACKGROUND: Primary immunodeficiency diseases (PID) are heterogeneous group of inherited disorders mainly characterized by recurrent infections leading to several times hospital admissions. The economic impact of PID is a challenging issue; therefore, this study was designed to determine the medical costs of hospitalizations in this group of patients as an indicator of the direct cost of these diseases. METHODS: One hundred and ten children with PID hospitalized in the Children's Medical Center Hospital, Tehran, Iran were included in this study during Jan 2011 and Jan 2012...
March 2017: Iranian Journal of Public Health
https://www.readbyqxmd.com/read/28433926/discredited-legacy-stigma-and-familial-amyloid-polyneuropathy-in-northwestern-portugal
#5
Álvaro Mendes, Liliana Sousa, Jorge Sequeiros, Angus Clarke
RATIONALE: Genetic inherited conditions may result in feelings of stigmatisation, mainly because of visible physical appearance and its transmissibility to offspring. OBJECTIVE: This article reports accounts of stigmatisation from Portuguese patients affected by the inherited neurodegenerative disease, familial amyloid polyneuropathy (FAP), living in the largest cluster of patients worldwide. METHOD: We draw on semi-structured interviews conducted with individuals at-risk or affected by FAP, recruited through the national patients' association, about their experiences of stigmatisation related to the illness...
April 15, 2017: Social Science & Medicine
https://www.readbyqxmd.com/read/28433111/epidemiology-and-introduction-to-the-clinical-presentation-of-wilson-disease
#6
Christine Lo, Oliver Bandmann
Our understanding of the epidemiology of Wilson disease has steadily grown since Sternlieb and Scheinberg's first prevalence estimate of 5 per million individuals in 1968. Increasingly sophisticated genetic techniques have led to revised genetic prevalence estimates of 142 per million. Various population isolates exist where the prevalence of Wilson disease is higher still, the highest being 885 per million from within the mountainous region of Rucar in Romania. In Sardinia, where the prevalence of Wilson disease has been calculated at 370 per million births, six mutations account for around 85% of Wilson disease chromosomes identified...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28433098/wilson-disease-in-children
#7
Eve A Roberts, Piotr Socha
Wilson disease (WD) is an inherited disorder mainly of hepatocellular copper disposition, due to dysfunction of the Wilson ATPase, a P1B-ATPase encoded by the gene ATP7B. In children, as in older age brackets, clinical disease is highly diverse. Although hepatic disease is the common presentation in children/adolescents, neurologic, psychiatric, and hematologic clinical presentations do occur. Very young children may have clinically evident liver disease due to WD. Early diagnosis, preferably when the child/adolescent is asymptomatic, is most likely to result in near-normal longevity with generally good health so long as the patient tolerates effective medication, is adherent to the lifelong treatment regimen, and has consistent access to the medication...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28432469/renal-findings-in-patients-with-mulibrey-nanism
#8
Johanna Sivunen, Susann Karlberg, Jouko Lohi, Niklas Karlberg, Marita Lipsanen-Nyman, Hannu Jalanko
BACKGROUND: Mulibrey nanism (MUL) is a rare inherited disease caused by genetic defects affecting peroxisomal TRIM37 protein. MUL affects multiple organs, leading to growth retardation and early onset type 2 diabetes. We aimed to characterize the structure and function of kidneys and the urinary tract in a large cohort of Finnish MUL patients. METHODS: Ultrasound, magnetic resonance imaging (MRI), and autopsy findings of the kidneys and urinary tract from 101 MUL patients were retrospectively analyzed...
April 22, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28430294/grn-mutation-in-a-patient-with-a-behavioral-variant-of-frontotemporal-lobar-degeneration-bvftd
#9
Sylwia Walczysková, Pavel Ressner, Šárka Hilscherová, Jaroslav Kotlas, Jiří Konrád, Věnceslava Svobodová
<i>The clinical spectrum of frontotemporal lobar degeneration (FTLD) is characterized by personality changes, language impairment, and executive function deficits. About 40% of FTLD cases have a family history of the disease, and the GRN gene is currently the most frequent genetic determinant. In cases of inherited FTLD with GRN mutations, parkinsonism is often an early sign due to greater grey matter atrophy in the caudate nucleus and bilateral atrophy in the thalamus. We investigated a female patient with signs of frontotemporal lobe atrophy and unilateral caudate nucleus atrophy on MRI...
2017: Folia Neuropathologica
https://www.readbyqxmd.com/read/28430167/induced-pluripotent-stem-cell-modeling-of-gaucher-s-disease-what-have-we-learned
#10
REVIEW
Dino Matias Santos, Gustavo Tiscornia
Gaucher's disease (GD) is the most frequently inherited lysosomal storage disease, presenting both visceral and neurologic symptoms. Mutations in acid β-glucocerebrosidase disrupt the sphingolipid catabolic pathway promoting glucosylceramide (GlcCer) accumulation in lysosomes. Current treatment options are enzyme replacement therapy (ERT) and substrate reduction therapy (SRT). However, neither of these approaches is effective in treating the neurological aspect of the disease. The use of small pharmacological compounds that act as molecular chaperones is a promising approach that is still experimental...
April 21, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28429242/genetics-of-dyslipidemia-and-ischemic-heart-disease
#11
REVIEW
Kavita Sharma, Ragavendra R Baliga
PURPOSE OF REVIEW: Genetic dyslipidemias contribute to the prevalence of ischemic heart disease. The field of genetic dyslipidemias and their influence on atherosclerotic heart disease is rapidly developing and accumulating increasing evidence. The purpose of this review is to describe the current state of knowledge in regard to inherited atherogenic dyslipidemias. The disorders of familial hypercholesterolemia (FH) and elevated lipoprotein(a) will be detailed. Genetic technology has made rapid advancements, leading to new discoveries in inherited atherogenic dyslipidemias, which will be explored in this review, as well as a description of possible future developments...
May 2017: Current Cardiology Reports
https://www.readbyqxmd.com/read/28428202/precision-physiology-and-rescue-of-brain-ion-channel-disorders
#12
REVIEW
Jeffrey Noebels
Ion channel genes, originally implicated in inherited excitability disorders of muscle and heart, have captured a major role in the molecular diagnosis of central nervous system disease. Their arrival is heralded by neurologists confounded by a broad phenotypic spectrum of early-onset epilepsy, autism, and cognitive impairment with few effective treatments. As detection of rare structural variants in channel subunit proteins becomes routine, it is apparent that primary sequence alone cannot reliably predict clinical severity or pinpoint a therapeutic solution...
April 20, 2017: Journal of General Physiology
https://www.readbyqxmd.com/read/28428049/stem-cells-for-retinal-disease-a-perspective-on-the-promise-and-perils
#13
Rajesh C Rao, Vaidehi S Dedania, Mark W Johnson
PURPOSE: To summarize key concepts, and early safety and efficacy signals from clinical trials for stem/progenitor cell-based interventions for retinal disease. DESIGN: Interpretive essay. METHODS: Review and synthesis of selected recent reports of stem/progenitor cell-based approaches for retinal disease, with interpretation and perspective. RESULTS: Stem/progenitor cell-based interventions represent a novel class of potential therapies for retinal diseases, such as age-related macular degeneration, inherited retinal dystrophies, and others...
April 17, 2017: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/28427807/targeted-next-generation-sequencing-in-patients-with-myotonia-congenita
#14
Valentina Ferradini, Marco Cassone, Sara Nuovo, Ilaria Bagni, Rosaria D'Apice, Annalisa Botta, Giuseppe Novelli, Federica Sangiuolo
INTRODUCTION: Myotonia Congenita (MC) is a nondystrophic skeletal muscle disease characterized by muscle stiffness, weakness, delayed skeletal relaxation and hypertrophic muscle. The disease can be inherited as dominant or recessive. More than 130 mutations in CLCN1 gene have been identified. MATERIALS AND METHODS: We analyzed the entire coding region and exon-intron boundaries of the CLCN1 gene in 40 MC patients. Samples already Sanger-sequenced were successively evaluated by Next Generation Sequencing (NGS), on Ion Torrent PGM...
April 17, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28427100/dystrophinopathies-and-limb-girdle-muscular-dystrophies
#15
Joana Domingos, Anna Sarkozy, Mariacristina Scoto, Francesco Muntoni
Muscular dystrophies are a heterogeneous group of inherited diseases. The natural history of these disorders along with their management have changed mainly due to a better understanding of their pathophysiology, the evolution of standards of care, and new treatment options. Dystrophinopathies include both Duchenne's and Becker's muscular dystrophies, but in reality they are a spectrum of muscle diseases caused by mutations in the gene that encodes the protein dystrophin. Duchenne's muscular dystrophy is the most common form of inherited muscle disease of childhood...
April 20, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28426484/connective-tissue-nevi-a-review-of-the-literature
#16
Harleen Arora, Leyre Falto-Aizpurua, Andrea Cortés-Fernandez, Sonal Choudhary, Paolo Romanelli
Connective tissue nevi (CTN) are hamartomas of the dermis, with the 3 main components being collagen, elastin, and proteoglycans. Each subtype can present as a solitary lesion or multiple lesions. They could present as part of systemic diseases or inherited disorders. This article provides a comprehensive literature review of the different types of CTN, their clinical presentations, associations, and treatment options. Treatment options for 56 lesions were reviewed. Fifty-two percent of lesions were present in males, and the age range at the time of presentation was wide (1...
May 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28426137/hydroxyurea-hydroxycarbamide-for-sickle-cell-disease
#17
REVIEW
Sarah J Nevitt, Ashley P Jones, Jo Howard
BACKGROUND: Sickle cell disease (SCD) is one of the most common inherited diseases worldwide. It is associated with lifelong morbidity and a reduced life expectancy. Hydroxyurea (hydroxycarbamide), an oral chemotherapeutic drug, ameliorates some of the clinical problems of SCD, in particular that of pain, by raising fetal haemoglobin. This is an update of a previously published Cochrane Review. OBJECTIVES: To assess the effects of hydroxyurea therapy in people with SCD (all genotypes), of any age, regardless of setting...
April 20, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28425625/a-missense-mutation-in-damage-specific-dna-binding-protein-2-is-a-genetic-risk-factor-for-limbal-squamous-cell-carcinoma-in-horses
#18
Rebecca R Bellone, Jiayin Liu, Jessica L Petersen, Maura Mack, Moriel Singer-Berk, Cord Drögemüller, Julia Malvick, Barbara Wallner, Gottfried Brem, M Cecilia Penedo, Mary Lassaline
Squamous cell carcinoma (SCC) is the most common cancer of the equine eye, frequently originating at the limbus, with the potential to invade the cornea, cause visual impairment, and result in loss of the eye. Several breeds of horses have a high occurrence of limbal SCC implicating a genetic basis for limbal SCC predisposition. Pedigree analysis in the Haflinger breed supports a simple recessive mode of inheritance and a genome wide association study (N=23) identified a 1.5 Mb locus on ECA12 significantly associated with limbal SCC (Pcorrected = 0...
April 20, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28425581/clinical-biochemical-and-genetic-features-of-41-han-chinese-families-with-primary-hypertrophic-osteoarthropathy-and-their-therapeutic-response-to-etoricoxib-results-from-a-6-months-prospective-clinical-intervention
#19
Shan-Shan Li, Jin-We He, Wen-Zhen Fu, Yu-Juan Liu, Yun-Qiu Hu, Zhen-Lin Zhang
Primary hypertrophic osteoarthropathy (PHO) is a rare inherited disease caused by genetic defects in prostaglandin metabolism pathway; disturbed prostaglandin E2 (PGE2 ) catabolism resulting in increased PGE2 levels is suggested in the pathogenesis. Forty-three Han Chinese patients with PHO were studied and 41 of them were treated. Mutations in HPGD gene, causing hypertrophic osteoarthropathy, primary, autosomal recessive 1 (PHOAR1; OMIM 259100), were identified in 7 patients, and mutations in SLCO2A1 gene, causing hypertrophic osteoarthropathy, primary, autosomal recessive 2 (PHOAR2; OMIM 614441), were identified in 36 patients...
April 20, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28423155/the-role-of-genetic-testing-in-patients-with-breast-cancer-a-review
#20
Olivia M Valencia, Selyne E Samuel, Rebecca K Viscusi, Taylor S Riall, Leigh A Neumayer, Hassan Aziz
Importance: In the United States from 2009 to 2013, the incidence of breast cancer was the highest of any cancer and the death rate was second to that of lung cancer. Approximately 5% to 10% of breast cancers are inheritable. Observations: BRCA1 and BRCA2 germline mutations account for up to 30% of inheritable breast cancers and are the most commonly assessed mutations in patients presenting with early-onset breast cancer, triple-negative breast cancer, bilateral breast cancer, and a family history of breast cancer...
April 19, 2017: JAMA Surgery
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