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https://www.readbyqxmd.com/read/28545161/classic-galactosemia-study-on-the-late-prenatal-development-of-galt-specific-activity-in-a-sheep-model
#1
Ana I Coelho, Jörgen Bierau, Martijn Lindhout, Jelle Achten, Boris W Kramer, M Estela Rubio-Gozalbo
BACKGROUND: Classic galactosemia results from deficient activity of galactose-1-phosphate uridylyltransferase (GALT), a key enzyme of galactose metabolism. Despite early diagnosis and early postnatal therapeutic intervention, patients still develop neurologic and fertility impairments. Prenatal developmental toxicity has been hypothesized as a determinant factor of disease. In order to shed light on the importance of prenatal GALT activity, several studies have examined GALT activity throughout development...
May 25, 2017: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
https://www.readbyqxmd.com/read/28545104/pkng-senses-amino-acid-availability-to-control-metabolism-and-virulence-of-mycobacterium-tuberculosis
#2
Barbara Rieck, Giulia Degiacomi, Michael Zimmermann, Alessandro Cascioferro, Francesca Boldrin, Natalie R Lazar-Adler, Andrew R Bottrill, Fabien le Chevalier, Wafa Frigui, Marco Bellinzoni, María-Natalia Lisa, Pedro M Alzari, Liem Nguyen, Roland Brosch, Uwe Sauer, Riccardo Manganelli, Helen M O'Hare
Sensing and response to changes in nutrient availability are essential for the lifestyle of environmental and pathogenic bacteria. Serine/threonine protein kinase G (PknG) is required for virulence of the human pathogen Mycobacterium tuberculosis, and its putative substrate GarA regulates the tricarboxylic acid cycle in M. tuberculosis and other Actinobacteria by protein-protein binding. We sought to understand the stimuli that lead to phosphorylation of GarA, and the roles of this regulatory system in pathogenic and non-pathogenic bacteria...
May 17, 2017: PLoS Pathogens
https://www.readbyqxmd.com/read/28545069/behavioral-alterations-are-associated-with-vitamin-b12-deficiency-in-the-transcobalamin-receptor-cd320-ko-mouse
#3
Kaveri Arora, Jeffrey M Sequeira, Alejandro I Hernández, Juan M Alarcon, Edward V Quadros
Vitamin B12 (cobalamin) deficiency is prevalent worldwide and causes megaloblastic anemia and neurologic deficits. While the anemia can be treated, the neurologic deficits can become refractive to treatment as the disease progresses. Therefore, timely intervention is critical for a favorable outcome. Moreover, the metabolic basis for the neuro-pathologic changes and the role of cobalamin deficiency in the pathology still remains unexplained. Using a transcobalamin receptor / CD320 knockout mouse that lacks the receptor for cellular uptake of transcobalamin bound cobalamin, we aimed to determine whether cobalamin deficiency in the central nervous system produced functional neurologic deficits in the mouse that would parallel those observed in humans...
2017: PloS One
https://www.readbyqxmd.com/read/28544931/role-for-rif1-interacting-partner-ddx1-in-blm-recruitment-to-dna-double-strand-breaks
#4
Lei Li, Ho-Yin Poon, Matthew R Hildebrandt, Elizabeth A Monckton, Devon R Germain, Richard P Fahlman, Roseline Godbout
Human Rap1-interacting factor 1 (RIF1) is an important player in the repair of DNA double strand breaks (DSBs). RIF1 acts downstream of 53BP1, with well-documented roles in class switch recombination in B-cells and inhibition of end resection initiation in BRCA1-defective cells. Here, we report that DEAD Box 1 (DDX1), a RNA helicase also implicated in DSB repair, interacts with RIF1, with co-localization of DDX1 and RIF1 observed throughout interphase. Recruitment of DDX1 to DSBs is dependent on RIF1, with RIF1 depletion abolishing DDX1-mediated facilitation of homologous recombination at DSBs...
May 13, 2017: DNA Repair
https://www.readbyqxmd.com/read/28544903/estrogen-receptor-%C3%AE-deficiency-impairs-bdnf-5-ht2a-signaling-in-the-hippocampus-of-female-brain-a-possible-mechanism-for-menopausal-depression
#5
Anindit Chhibber, Sarah K Woody, M A Karim Rumi, Michael J Soares, Liqin Zhao
Depression currently affects 350 million people worldwide and 19 million Americans each year. Women are 2.5 times more likely to experience major depression than men, with some women appearing to be at a heightened risk during the menopausal transition. Estrogen signaling has been implicated in the pathophysiology of mood disorders including depression; however, the underlying mechanisms are poorly understood. In this study, the role of estrogen receptor (ER) subtypes, ERα and ERβ, in the regulation of brain-derived neurotrophic factor (BDNF) and serotonin (5-HT) signaling was investigated; two pathways that have been hypothesized to be interrelated in the etiology of depression...
May 18, 2017: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/28544750/unexpected-ethical-dilemmas-in-sex-assignment-in-46-xy-dsd-due-to-5-alpha-reductase-type-2-deficiency
#6
Heather M Byers, Lauren H Mohnach, Patricia Y Fechner, Ming Chen, Inas H Thomas, Linda A Ramsdell, Margarett Shnorhavorian, Elizabeth A McCauley, Anne-Marie E Amies Oelschlager, John M Park, David E Sandberg, Margaret P Adam, Catherine E Keegan
Sex assignment at birth remains one of the most clinically challenging and controversial topics in 46,XY disorders of sexual development (DSD). This is particularly challenging in deficiency of 5-alpha reductase type 2 given that external genitalia are typically undervirilized at birth but typically virilize at puberty to a variable degree. Historically, most individuals with 5-alpha reductase deficiency were raised females. However, reports that over half of patients who underwent a virilizing puberty adopted an adult male gender identity have challenged this practice...
May 25, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28544736/molybdenum-cofactor-deficiency-identification-of-a-patient-with-homozygote-mutation-in-the-mocs3-gene
#7
Jan G M Huijmans, Rachel Schot, Johannis B C de Klerk, Monique Williams, René F M de Coo, Marinus Duran, Frans W Verheijen, Marjon van Slegtenhorst, Grazia M S Mancini
We describe the clinical presentation and 17 years follow up of a boy, born to consanguineous parents and presenting with intellectual disability (ID), autism, "marfanoid" dysmorphic features, and moderate abnormalities of sulfite metabolism compatible with molybdenum cofactor deficiency, but normal sulfite oxidase activity in cultured skin fibroblasts. Genomic exome analysis revealed a homozygous MOCS3 missense mutation, leading to a p.Ala257Thr substitution in the highly conserved ubiquitin-like-domain of the protein...
June 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28544690/deficiency-of-complement-1r-subcomponent-in-early-onset-sle-role-for-disease-modifying-alleles-in-a-monogenic-disease
#8
Erkan Demirkaya, Qing Zhou, Carolyne K Smith, Michael J Ombrello, Natalie Deuitch, Wanxia L Tsai, Patrycja Hoffmann, Elaine F Remmers, Masaki Takeuchi, Yong Hwan Park, JaeJin Chae, Kenan Barut, Dogan Simsek, Amra Adrovic, Sezgin Sahin, Salim Caliskan, Settara C Chandrasekharappa, Sarfaraz A Hasni, Amanda K Ombrello, Massimo Gadina, Daniel L Kastner, Mariana J Kaplan, Ozgur Kasapcopur, Ivona Aksentijevich
OBJECTIVE: To identify a genetic cause of early-onset systemic lupus erythematosus (SLE) in a large consanguineous family from Turkey and to study the mechanisms of disease. METHODS: We performed whole exome sequencing (WES) and SNP array genotyping in affected and unaffected family members. Protein studies, gene expression, cytokine profiling, neutrophil extracellular trap formation, and presence of low-density granulocytes were evaluated in patient primary cells and serum samples...
May 23, 2017: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/28544688/prolonged-denervation-induces-remodeling-of-nasal-mucosa-in-rat-model-of-posterior-nasal-neurectomy
#9
Hironobu Nishijima, Kenji Kondo, Makiko Toma-Hirano, Shu Kikuta, Mizuo Ando, Rumi Ueha, Tatsuya Yamasoba
BACKGROUND: The posterior nasal nerve is the dominant source of the parasympathetic, sympathetic, and sensory fibers that innervate the nasal respiratory mucosa. Therefore, a posterior nasal neurectomy (PNN) induces denervation of the nasal mucosa and relieves the nasal symptoms of intractable rhinitis. PNN depletes nerve fibers, choline acetyltransferase, and neuropeptides in nasal respiratory mucosa, and reduces nasal secretion. However, the histological and symptomatic changes over an extended period after PNN remain unknown...
May 23, 2017: International Forum of Allergy & Rhinology
https://www.readbyqxmd.com/read/28544660/altered-secretion-of-sertoli-cells-hormones-in-2-year-old-prepubertal-cryptorchid-boys-a-cross-sectional-study
#10
S M Hamdi, T Almont, P Galinier, R Mieusset, P Thonneau
In cryptorchid boys, failures in germ cell development have been clearly established. Some studies reported some abnormalities in Sertoli cells morphology but the results regarding their endocrine secretion remain controversial. To compare testicular hormone levels in young boys with and without cryptorchidism, we performed a cross-sectional hospital-based study. From surgery appointment records, we identified a case group of boys with unilateral or bilateral cryptorchidism and a control group undergoing dental care, minor osteoarticular or dermal surgery...
May 23, 2017: Andrology
https://www.readbyqxmd.com/read/28544654/hypogonadism-in-testicular-cancer-patients-is-associated-with-risk-factors-of-cardiovascular-disease-and-the-metabolic-syndrome
#11
C Bogefors, S Isaksson, J Bobjer, M Kitlinski, I Leijonhufvud, K Link, A Giwercman
More than 95% of testicular cancer are cured but they are at increased long-term risk of cardiovascular disease. The risk of cardiovascular disease and treatment intensity was reported, but it is unknown whether this effect of cancer therapy is direct or indirect, mediated through androgen deficiency. Our aim was, therefore, to evaluate whether testicular cancer patients have increased the prevalence of risk factors of cardiovascular disease and if these risk factors are associated with hypogonadism and/or the cancer treatment given...
May 23, 2017: Andrology
https://www.readbyqxmd.com/read/28544596/deletion-of-the-prostaglandin-d2-receptor-dp1-exacerbates-aging-associated-and-instability-induced-osteoarthritis
#12
Yassine Ouhaddi, Sarah-Salwa Nebbaki, Lauris Habouri, Hassan Afif, Bertrand Lussier, Mohit Kapoor, Shuh Narumiya, Jean-Pierre Pelletier, Johanne Martel-Pelletier, Mohamed Benderdour, Hassan Fahmi
OBJECTIVE: The D prostanoid receptor 1 (DP1), a receptor for prostaglandin D2 (PGD2 ), plays important roles in inflammation and cartilage metabolism. However, its role in the pathogenesis of osteoarthritis (OA) remains unknown. We undertook this study to explore the roles of DP1 in the development of OA and to evaluate the efficacy of a DP1 selective agonist in the treatment of OA. METHODS: We compared the development of aging-associated OA and destabilization of the medial meniscus (DMM)-induced OA in DP1-deficient (DP1-/-) and wild-type (WT) mice...
May 23, 2017: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/28544578/clinical-assessment-of-interdental-papilla-competency-parameters-in-the-esthetic-zone
#13
Karuna Joshi, C S Baiju, Himanshu Khashu, Sumidha Bansal, Isha B Maheswari
BACKGROUND: Interdental papilla occupies the space between two adjacent teeth. Its contour and health are regarded with utmost importance in esthetic dental therapy. The loss of papillary height can result in open gingival embrasures, phonetic problems, food impaction, and esthetic concerns: therefore in order to prevent its loss and to better understand the challenges of regenerating the lost gingival papillae, it is crucial to recognize the factors that influence papilla form. AIM: The purpose of this study is to evaluate various factors associated with the fill of interdental spaces by gingival papillae MATERIAL AND METHODS: 150 interdental papillae in 30 patients were assessed with clinical and study models...
May 25, 2017: Journal of Esthetic and Restorative Dentistry
https://www.readbyqxmd.com/read/28544484/neglected-issues-concerning-teaching-human-adrenal-steroidogenesis-in-popular-biochemistry-textbooks
#14
Zhiyong Han, Mark S Elliott
In the human body, the adrenal steroids collectively regulate a plethora of fundamental functions, including electrolyte and water balance, blood pressure, stress response, intermediary metabolism, inflammation, and immunity. Therefore, adrenal steroidogenesis is an important biochemistry topic for students to learn in order for them to understand health consequences caused by deficiencies of enzymes in the adrenal steroidogenic pathways. However, popular biochemistry textbooks contain insufficient information and may sometimes give students a misimpression about certain aspects of human adrenal steroidogenesis...
May 19, 2017: Biochemistry and Molecular Biology Education
https://www.readbyqxmd.com/read/28544455/suboptimal-maternal-and-cord-plasma-pyridoxal-5-phosphate-concentrations-are-uncommon-in-a-cohort-of-canadian-pregnant-women-and-newborn-infants
#15
Lesley Plumptre, Shannon P Masih, Kyoung-Jin Sohn, Denise Kim, Carly E Visentin, Anna Ly, Howard Berger, Ruth Croxford, Deborah L O'Connor, Young-In Kim
Vitamin B6 is important in fetal development, but little is known of the vitamin B6 status of pregnant women and newborns in North America and potential modifying factors. This prospective study determined maternal and cord plasma concentrations of pyridoxal 5' phosphate (PLP; an indicator of vitamin B6 status) in a convenience sample of 368 Canadian pregnant women and their newborns. The association of maternal intake of vitamin B6 and fetal genetic variants with cord plasma PLP and homocysteine concentrations was also examined...
May 24, 2017: Maternal & Child Nutrition
https://www.readbyqxmd.com/read/28544439/effects-of-cognitive-impairment-on-prosodic-parameters-of-speech-production-planning-in-multiple-sclerosis
#16
Céline De Looze, Noémie Moreau, Laurent Renié, Finnian Kelly, Alain Ghio, Audrey Rico, Bertrand Audoin, François Viallet, Jean Pelletier, Caterina Petrone
Cognitive impairment (CI) affects 40-65% of patients with multiple sclerosis (MS). CI can have a negative impact on a patient's everyday activities, such as engaging in conversations. Speech production planning ability is crucial for successful verbal interactions and thus for preserving social and occupational skills. This study investigates the effect of cognitive-linguistic demand and CI on speech production planning in MS, as reflected in speech prosody. A secondary aim is to explore the clinical potential of prosodic features for the prediction of an individual's cognitive status in MS...
May 24, 2017: Journal of Neuropsychology
https://www.readbyqxmd.com/read/28544333/image-based-modeling-and-scoring-of-howell-jolly-bodies-in-human-erythrocytes
#17
Oguzhan Angay, Mike Friedrich, Jürgen Pinnecker, Henning Hintzsche, Helga Stopper, Klaus Hempel, Katrin G Heinze
The spleen selectively removes cells with intracellular inclusions, for example, detached nuclear fragments in circulating erythrocytes, called Howell-Jolly Bodies (HJBs). With absent or deficient splenic function HJBs appear in the peripheral blood and can be used as a simple and non-invasive risk-indicator for fulminant potentially life-threatening infection after spleenectomy. However, it is still under debate whether counting of the rare HJBs is a reliable measure of splenic function. Investigating HJBs in premature erythrocytes from patients during radioiodine therapy gives about 10 thousand times higher HJB counts than in blood smears...
May 24, 2017: Cytometry. Part A: the Journal of the International Society for Analytical Cytology
https://www.readbyqxmd.com/read/28544317/fish-parasite-dinoflagellates-haidadinium-ichthyophilum-and-piscinoodinium-share-a-recent-common-ancestor
#18
Elisabeth Hehenberger, Erick R James, Javier Del Campo, John A Buckland-Nicks, Thomas E Reimchen, Patrick J Keeling
The dinoflagellate Haidadinium ichthyophilum Buckland-Nicks, Reimchen and Garbary 1997 is an ectoparasite of the spine-deficient, three-spine stickleback Gasterosteus aculeatus L. Reimchen 1984, a fish endemic to Rouge Lake, Haida Gwaii. Haidadinium ichthyophilum proved difficult to assign taxonomically, because its morphology and complex life cycle exhibited defining characteristics of both autotrophic and heterotrophic dinoflagellates, and was tentatively assigned to the Phytodiniales. Here, we characterized a 492bp-fragment of the small subunit ribosomal RNA (SSU rRNA) from preserved H...
May 25, 2017: Journal of Eukaryotic Microbiology
https://www.readbyqxmd.com/read/28544264/ampk-%C3%AE-1-reduces-tumor-progression-and-improves-survival-in-p53-null-mice
#19
Vanessa P Houde, Sara Donzelli, Andrea Sacconi, Sandra Galic, Joanne A Hammill, Jonathan L Bramson, Robert A Foster, Theodoros Tsakiridis, Bruce E Kemp, Giuseppe Grasso, Giovanni Blandino, Paola Muti, Gregory R Steinberg
The AMP-activated protein kinase (AMPK) is a heterotrimeric protein complex that is an important sensor of cellular energy status. Reduced expression of the AMPK β1 isoform has been linked to reduced survival in different cancers but whether this accelerates tumor progression and the potential mechanism mediating these effects is not known. Further, it is unknown whether AMPK β1 is implicated in tumorigenesis and if so what tissues may be most sensitive. In the current study we find that in the absence of the tumor suppressor p53, germline genetic deletion of AMPK β1 accelerates the appearance of a T cell lymphoma that reduces lifespan compared to p53 deficiency alone...
May 24, 2017: Molecular Oncology
https://www.readbyqxmd.com/read/28544263/impact-of-a-product-specific-reference-standard-for-the-measurement-of-a-pegylated-rfviii-activity-the-swiss-multicentre-field-study
#20
O Bulla, A Poncet, L Alberio, L M Asmis, A Gähler, L Graf, M Nagler, J-D Studt, D A Tsakiris, P Fontana
INTRODUCTION: Measuring factor VIII (FVIII) activity can be challenging when it has been modified, such as when FVIII is pegylated to increase its circulating half-life. Use of a product-specific reference standard may help avoid this issue. AIM: Evaluate the impact of using a product-specific reference standard for measuring the FVIII activity of BAX 855 - a pegylated FVIII - in eight of Switzerland's main laboratories. METHODS: Factor VIII-deficient plasma, spiked with five different concentrations of BAX 855, plus a control FVIII sample, was sent to the participating laboratories...
May 24, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
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