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https://www.readbyqxmd.com/read/28924140/linoleic-and-palmitoleic-acid-block-streptokinase-mediated-plasminogen-activation-and-reduce-severity-of-invasive-group-a-streptococcal-infection
#1
Katharina Rox, Rolf Jansen, Torsten G Loof, Christine M Gillen, Steffen Bernecker, Mark J Walker, Gursharan Singh Chhatwal, Rolf Müller
In contrast to mild infections of Group A Streptococcus (GAS) invasive infections of GAS still pose a serious health hazard: GAS disseminates from sterile sites into the blood stream or deep tissues and causes sepsis or necrotizing fasciitis. In this case antibiotics do not provide an effective cure as the bacteria are capable to hide from them very quickly. Therefore, new remedies are urgently needed. Starting from a myxobacterial natural products screening campaign, we identified two fatty acids isolated from myxobacteria, linoleic and palmitoleic acid, specifically blocking streptokinase-mediated activation of plasminogen and thereby preventing streptococci from hijacking the host's plasminogen/plasmin system...
September 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28921500/growth-hormone-therapy-for-people-with-thalassaemia
#2
REVIEW
Chin Fang Ngim, Nai Ming Lai, Janet Yh Hong, Shir Ley Tan, Amutha Ramadas, Premala Muthukumarasamy, Meow-Keong Thong
BACKGROUND: Thalassaemia is a recessively-inherited blood disorder that leads to anaemia of varying severity. In those affected by the more severe forms, regular blood transfusions are required which may lead to iron overload. Accumulated iron from blood transfusions may be deposited in vital organs including the heart, liver and endocrine organs such as the pituitary glands which can affect growth hormone production. Growth hormone deficiency is one of the factors that can lead to short stature, a common complication in people with thalassaemia...
September 18, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28912962/gene-panel-sequencing-in-brazilian-patients-with-retinitis-pigmentosa
#3
Kárita Antunes Costa, Mariana Vallim Salles, Chris Whitebirch, John Chiang, Juliana Maria Ferraz Sallum
BACKGROUND: Retinal dystrophies constitute a group of diseases characterized by clinical variability and pronounced genetic heterogeneity. Retinitis pigmentosa is the most common subtype of hereditary retinal dystrophy and is characterized by a progressive loss of peripheral field vision (Tunnel Vision), eventual loss of central vision, and progressive night blindness. The characteristics of the fundus changes include bone-spicule formations, attenuated blood vessels, reduced and/or abnormal electroretinograms, changes in structure imaged by optical coherence tomography, and subjective changes in visual function...
2017: International Journal of Retina and Vitreous
https://www.readbyqxmd.com/read/28870047/-expert-consensus-for-the-diagnosis-and-treatment-of-patients-with-gitelman-syndrome
#4
(no author information available yet)
Gitelman syndrome (GS) is an autosomal recessive, salt-losing tubulopathy caused by inactivating mutations in the SLC12A3 gene that encodes the thiazide-sensitive sodium-chloride cotransporter (NCC). GS is characterized by hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria. GS is one of the most common inherited renal tubulopathy with a prevalence estimated at about one to ten per 40 000 people. The prevalence of GS is even higher in Asia than other countries. The majority of GS patients present mild and nonspecific symptoms during adolescence or adulthood...
September 1, 2017: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
https://www.readbyqxmd.com/read/28867123/comparison-of-outcomes-in-patients-having-acute-myocardial-infarction-with-versus-without-sickle-cell-anemia
#5
Gbolahan O Ogunbayo, Naoki Misumida, Odunayo Olorunfemi, Ayman Elbadawi, Deola Saheed, Adrian Messerli, Claude S Elayi, Susan S Smyth
Sickle-cell disease (SCD) affects millions worldwide. Sickle-cell anemia (SCA), the most severe form of this disease, is the most common inherited blood disorder in the United States. There are limited data on the incidence, clinical characteristics, and outcomes of acute myocardial infarction (AMI) in these patients. Using data from the National Inpatient Sample database, we matched cases (AMI with SCA) with controls (AMI without SCA) in a 1:1 ratio for age, gender, race, and year of admission. We compared both groups in terms of clinical characteristics and inpatient outcomes and performed a logistic regression with mortality as the primary outcome...
August 8, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28839426/liver-and-the-defects-of-cholesterol-and-bile-acids-biosynthesis-rare-disorders-many-diagnostic-pitfalls
#6
EDITORIAL
Gaetano Corso, Antonio Dello Russo, Monica Gelzo
In recent decades, biotechnology produced a growth of knowledge on the causes and mechanisms of metabolic diseases that have formed the basis for their study, diagnosis and treatment. Unfortunately, it is well known that the clinical features of metabolic diseases can manifest themselves with very different characteristics and escape early detection. Also, it is well known that the prognosis of many metabolic diseases is excellent if diagnosed and treated early. In this editorial we briefly summarized two groups of inherited metabolic diseases, the defects of cholesterol biosynthesis and those of bile acids...
August 7, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/28830827/germline-variation-at-cdkn2a-and-associations-with-nevus-phenotypes-among-members-of-melanoma-families
#7
Nicholas J Taylor, Nandita Mitra, Alisa M Goldstein, Margaret A Tucker, Marie-Françoise Avril, Esther Azizi, Wilma Bergman, D Timothy Bishop, Brigitte Bressac-de Paillerets, William Bruno, Donato Calista, Lisa A Cannon-Albright, Francisco Cuellar, Anne E Cust, Florence Demenais, David E Elder, Anne-Marie Gerdes, Paola Ghiorzo, Thais C Grazziotin, Johan Hansson, Mark Harland, Nicholas K Hayward, Marko Hocevar, Veronica Höiom, Christian Ingvar, Maria Teresa Landi, Gilles Landman, Alejandra Larre-Borges, Sancy A Leachman, Graham J Mann, Eduardo Nagore, Håkan Olsson, Jane M Palmer, Barbara Perić, Dace Pjanova, Antonia Pritchard, Susana Puig, Nienke van der Stoep, Karin A W Wadt, Linda Whitaker, Xiaohong R Yang, Julia A Newton Bishop, Nelleke A Gruis, Peter A Kanetsky
Germline mutations in the cyclin-dependent kinase inhibitor 2A gene (CDKN2A) are frequently identified among melanoma kindreds, and are associated with increased atypical nevus counts. However, a clear relationship between pathogenic CDKN2A mutation carriage and other nevus phenotypes including counts of common acquired nevi has not yet been established. Using data from GenoMEL, we investigated the relationships between CDKN2A mutation carriage and 2 mm, 5 mm, and atypical nevus counts among blood-related members of melanoma families...
August 19, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28815563/bone-marrow-failure-syndrome-caused-by-homozygous-frameshift-mutation-in-the-ercc6l2-gene
#8
Tekla Järviaho, Kimmo Halt, Pasi Hirvikoski, Jukka Moilanen, Merja Möttönen, Riitta Niinimäki
Inherited bone marrow failure syndromes (IBMFS) are group of disorders that lead to inadequate production of blood cells. Mutations in genes involved in telomere maintenance, DNA repair, and the cell cycle cause IBMFS. ERCC6L2 gene mutations have been associated with bone marrow failure that includes developmental delay and microcephaly. We report two cases of bone marrow failure with no extra-hematopoietic manifestations in patients from unrelated families with a homozygous truncating mutation in ERCC6L2. Bone marrow failure without developmental delay or microcephaly with ERCC6L2 mutation has not been previously described...
August 16, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28803391/mutational-analysis-of-the-rb1-gene-and-the-inheritance-patterns-of-retinoblastoma-in-jordan
#9
Yacoub A Yousef, Abdelghani Tbakhi, Maysa Al-Hussaini, Ibrahim AlNawaiseh, Ala Saab, Amal Afifi, Maysa Naji, Mona Mohammad, Rasha Deebajah, Imad Jaradat, Iyad Sultan, Mustafa Mehyar
Retinoblastoma (RB) is a childhood cancer developing in the retina due to RB1 pathologic variant. Herein we are evaluating the oncogenic mutations in the RB1 gene and the inheritance patterns of RB in the Jordanian patients. In this prospective study, the peripheral blood of 50 retinoblastoma patients was collected, genomic DNA was extracted, mutations were identified using Quantitative multiplex PCR (QM-PCR), Allele-specific PCR, Next Generation Sequencing analysis, and Sanger sequencing. In this cohort of 50 patients, 20(40%) patients had unilateral RB and 30(60%) were males...
August 12, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28776207/long-term-follow-up-of-cognition-and-mental-health-in-adult-phenylketonuria-a-pku-cobeso-study
#10
Rianne Jahja, Francjan J van Spronsen, Leo M J de Sonneville, Jaap J van der Meere, Annet M Bosch, Carla E M Hollak, M Estela Rubio-Gozalbo, Martijn C G J Brouwers, Floris C Hofstede, Maaike C de Vries, Mirian C H Janssen, Ans T van der Ploeg, Janneke G Langendonk, Stephan C J Huijbregts
Cognitive and mental health problems in individuals with the inherited metabolic disorder phenylketonuria (PKU) have often been associated with metabolic control and its history. For the present study executive functioning (EF) was assessed in 21 PKU patients during childhood (T1, mean age 10.4 years, SD = 2.0) and again in adulthood (T2, mean age 25.8 years, SD = 2.3). At T2 additional assessments of EF in daily life and mental health were performed. Childhood (i.e. 0-12 years) blood phenylalanine was significantly related to cognitive flexibility, executive motor control, EF in daily life and mental health in adulthood (i...
August 3, 2017: Behavior Genetics
https://www.readbyqxmd.com/read/28755517/morphological-features-of-congenital-dyserythropoietic-anemia-type-i-the-role-of-electron-microscopy-in-diagnosis
#11
Peretz Resnitzky, Dina Shaft, Hanna Shalev, Joseph Kapelushnik, Orly Dgany, Tanya Krasnov, Hannah Tamary
INTRODUCTION: Congenital dyserythropoietic anemias are rare blood disorders characterized by congenital anemia and a wide range of morphological and functional abnormalities of erythroid precursors. OBJECTIVES: To analyze the relative frequency of both light microscopic (LM) and electron microscopic (EM) morphological features of erythroblasts in a large group of patients with molecular proven congenital dyserythropoietic anemia type I (CDAI). METHODS: We retrospectively evaluated the LM and EM of bone marrow (BM) erythroblasts in 35 patients with CDAI...
July 29, 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/28672087/interventions-for-chronic-kidney-disease-in-people-with-sickle-cell-disease
#12
REVIEW
Noemi Ba Roy, Patricia M Fortin, Katherine R Bull, Carolyn Doree, Marialena Trivella, Sally Hopewell, Lise J Estcourt
BACKGROUND: Sickle cell disease (SCD) is one of the commonest severe monogenic disorders in the world, due to the inheritance of two abnormal haemoglobin (beta-globin) genes. SCD can cause severe pain, significant end-organ damage, pulmonary complications, and premature death. Kidney disease is a frequent and potentially severe complication in people with SCD.Chronic kidney disease is defined as abnormalities of kidney structure or function, present for more than three months. Sickle cell nephropathy refers to the spectrum of kidney complications in SCD...
July 3, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28669707/a-multiplex-arms-pcr-approach-to-detection-of-common-%C3%AE-globin-gene-mutations
#13
Kanchan K Mishra, Parizad Patel, Dipal S Bhukhanvala, Avani Shah, Kanjaksha Ghosh
BACKGROUND: β-thalassaemia is a group of inherited single-gene disorders worldwide. Each ethnic population has its own common mutations. Heterogeneity of β-thalassaemia mutations in multi-ethnic population of Surat, makes molecular diagnosis expensive and time consuming. METHODS: Specific primers were used to differentiate four common mutations, IVS I-5 (G→C), Codon 41/42 (- TCTT), 619-bp deletion and FS 8/9 (+G), by a simple PCR involving a multiplex amplification refractory mutation system...
June 29, 2017: Analytical Biochemistry
https://www.readbyqxmd.com/read/28655553/variant-discovery-in-patients-with-mendelian-vascular-anomalies-by-next-generation-sequencing-and-their-use-in%C3%A2-patient-clinical-management
#14
Raul Mattassi, Elena Manara, Pier Giuseppe Colombo, Sofia Manara, Antonella Porcella, Giulia Bruno, Alice Bruson, Matteo Bertelli
OBJECTIVE: An accurate "molecular" diagnosis and classification of similar but distinct diseases is sometime challenging but often crucial for the definition of the appropriate patient medical management and treatment as well as for genetic counseling and risk assessment in families. The advent of next-generation sequencing (NGS), which analysed all known disease-associated genes in parallel in a cost- and time-effective manner, eased this process of disease definition and also for vascular anomalies that are a heterogeneous group of vascular tumors and congenital circulatory malformations and often characterized by overlapping phenotypes...
June 24, 2017: Journal of Vascular Surgery
https://www.readbyqxmd.com/read/28637614/classical-inherited-bone-marrow-failure-syndromes-with-high-risk-for-myelodysplastic-syndrome-and-acute-myelogenous-leukemia
#15
REVIEW
Sharon A Savage, Carlo Dufour
The inherited marrow failure syndromes (IBMFS) are a heterogeneous group of diseases characterized by failure in the production of one or more blood lineage. The clinical manifestations of the IBMFS vary according to the type and number of blood cell lines involved, including different combinations of anemia, leukopenia, and thrombocytopenia. In some IBMFS, systemic non-hematologic manifestations, including congenital malformations, mucocutaneous abnormalities, developmental delay, and other medical complications, may be present...
April 2017: Seminars in Hematology
https://www.readbyqxmd.com/read/28619735/the-evolving-role-of-succinate-in-tumor-metabolism-an-18-f-fdg-based-study
#16
Philippe Garrigue, Aurore Bodin-Hullin, Laure Balasse, Samantha Fernandez, Wassim Essamet, Françoise Dignat-George, Karel Pacak, Benjamin Guillet, David Taieb
Objective: In recent years, inherited and acquired mutations in the TCA cycle enzymes have been reported in diverse cancers. Pheochromocytomas and paragangliomas (PPGLs) often exhibit dysregulation of glucose metabolism which is also driven by mutations in genes encoding the TCA cycle enzymes or by activation of hypoxia signaling. PPGLs associated with succinate dehydrogenase (SDH) deficiency are characterized by high (18)F-fluorodeoxyglucose ([(18)F]-FDG) avidity. This association is currently only partially explained...
June 15, 2017: Journal of Nuclear Medicine: Official Publication, Society of Nuclear Medicine
https://www.readbyqxmd.com/read/28574019/k-time-maximum-amplitude-of-thromboelastogram-predict-post-central-venous-cannulation-bleeding-in-patients-with-cirrhosis-a-pilot-study
#17
Chandra K Pandey, Vandana Saluja, Kumar Gaurav, Manish Tandon, Vijay K Pandey, Ajeet S Bhadoria
BACKGROUND & OBJECTIVES: Coagulation and haemostasis are dynamic processes. The haemostatic changes in liver disease affect all aspects of coagulation. The prothrombin time (PT)/ international normalized ratio (INR) was developed to monitor oral anticoagulant therapy and the activated partial thromboplastin time to investigate inheritable single factor deficiencies. Viscoelastic tests such as thromboelastogram (TEG) give information about dynamics of clot formation (coagulation factor and anticoagulant activity), clot strength (platelets and fibrinogen) and clot stability (finbrinolysis and factor XIII)...
January 2017: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/28572916/ipscs-are-safe
#18
Hualong Yan, Yun-Bo Shi, Jing Huang
Induced pluripotent stem cells (iPSCs) hold great promises in cell therapy. However, the potential safety issues have dampened the enthusiasm of their clinical development. One of the biggest concerns came from the observations that genomic alterations exist in iPSCs. Using next generation sequencing of clonal skin fibroblasts and the iPSC clones derived from the same skin fibroblasts, Dr. Liu and his colleagues in the National Human Genome Research Institute, National Institutes of Health (NIH), USA, in collaboration with Dr...
2017: Cell & Bioscience
https://www.readbyqxmd.com/read/28540073/viscoelastic-testing-inside-and-beyond-the-operating-room
#19
REVIEW
Liang Shen, Sheida Tabaie, Natalia Ivascu
Hemorrhage is a major contributor to morbidity and mortality during the perioperative period. Current methods of diagnosing coagulopathy have various limitations including long laboratory runtimes, lack of information on specific abnormalities of the coagulation cascade, lack of in vivo applicability, and lack of ability to guide the transfusion of blood products. Viscoelastic testing offers a promising solution to many of these problems. The two most-studied systems, thromboelastography (TEG) and rotational thromboelastometry (ROTEM), offer similar graphical and numerical representations of the initiation, formation, and lysis of clot...
April 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28533057/late-effects-screening-guidelines-after-hematopoietic-cell-transplantation-for-inherited-bone-marrow-failure-syndromes-consensus-statement-from-the-second-pediatric-blood-and-marrow-transplant-consortium-international-conference-on-late-effects-after-pediatric
#20
REVIEW
Andrew C Dietz, Sharon A Savage, Adrianna Vlachos, Parinda A Mehta, Dorine Bresters, Jakub Tolar, Carmem Bonfim, Jean Hugues Dalle, Josu de la Fuente, Roderick Skinner, Farid Boulad, Christine N Duncan, K Scott Baker, Michael A Pulsipher, Jeffrey M Lipton, John E Wagner, Blanche P Alter
Patients with inherited bone marrow failure syndromes (IBMFS), such as Fanconi anemia (FA), dyskeratosis congenita (DC), or Diamond Blackfan anemia (DBA), can have hematologic manifestations cured through hematopoietic cell transplantation (HCT). Subsequent late effects seen in these patients arise from a combination of the underlying disease, the pre-HCT therapy, and the HCT process. During the international consensus conference sponsored by the Pediatric Blood and Marrow Transplant Consortium on late effects screening and recommendations following allogeneic hematopoietic cell transplantation for immune deficiency and nonmalignant hematologic diseases held in Minneapolis, Minnesota in May 2016, a half-day session was focused specifically on the unmet needs for these patients with IBMFS...
September 2017: Biology of Blood and Marrow Transplantation
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