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inheritance of blood types

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https://www.readbyqxmd.com/read/29154227/generation-of-integration-free-induced-pluripotent-stem-cell-line-njmui001-a-from-a-phenylketonuria-patient
#1
Tianhui Xu, Dong Liang, Jingjing Zhang, Xiuqing Ji, Huanran Hu, Yun Sun, Tao Jiang, Xia Wang, Ping Hu, Zhengfeng Xu
PKU is a prevalent type of inherited metabolic disease, caused by the defective phenylalanine metabolism. In most PKU cases, mutations in the PAH gene could be found. Dysfunction of this hepatic enzyme will lead to diverse clinical symptoms due to a failure in converting phenylalanine into tyrosine. Here, we report an integration-free human induced pluripotent stem cell line (NJMUi001-A) generated from peripheral blood mononuclear cells of a PKU patient by using Sendai virus. This iPS cell line has characteristics of pluripotent stem cells and can be used as a useful tool for the investigation of this inherited metabolic disease...
November 10, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29149824/gene-therapy-and-retinal-diseases
#2
Claudio Campa, Carla Enrica Gallenga, Elena Bolletta, Paolo Perri
Background Gene therapy represents the therapeutic delivery of nucleic acid polymers into a patient's cells with the aim of treating an underlying disease. Over the past 2 decades this new therapy has made substantial progress owing to better understanding of the pathobiologic basis of various diseases coupled with growth of gene transfer biotechnologies. The eye, in particular, represents a suitable target for such therapy due to the immune privilege provided by the blood-ocular barrier, the ability to directly visualize, access and locally treat the cells and the minimal amount of vector needed given the size of this organ...
November 16, 2017: Current Gene Therapy
https://www.readbyqxmd.com/read/29143201/newborn-screening-for-lysosomal-storage-disorders-by-tandem-mass-spectrometry-in-north-east-italy
#3
Alberto B Burlina, Giulia Polo, Leonardo Salviati, Giovanni Duro, Carmela Zizzo, Andrea Dardis, Bruno Bembi, Chiara Cazzorla, Laura Rubert, Roberta Zordan, Robert J Desnick, Alessandro P Burlina
BACKGROUND: Lysosomal storage diseases (LSDs) are inborn errors of metabolism resulting from 50 different inherited disorders. The increasing availability of treatments and the importance of early intervention have stimulated newborn screening (NBS) to diagnose LSDs and permit early intervention to prevent irreversible impairment or severe disability. We present our experience screening newborns in North East Italy to identify neonates with Mucopolysaccharidosis type I (MPS I) and Pompe, Fabry, and Gaucher diseases...
November 15, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29126301/coagulation-testing-in-the-core-laboratory
#4
William E Winter, Sherri D Flax, Neil S Harris
Primary hemostasis begins with endothelial injury. VWF, produced by endothelial cells, binds to platelets and links them to subendothelial collagen. Platelet-derived ADP and thromboxane activate non-adhered platelets via their GPIIb/IIIa receptors, allowing these platelets to participate in platelet aggregation. Secondary hemostasis is initiated with the binding of factor VII to extravascular tissue factor (TF). Factors II, VII, IX and X are vitamin K-dependent factors. The role of vitamin K is to assist in the addition of gamma carboxylate groups to glutamic acids in the "GLA" domains of these factors...
November 8, 2017: Laboratory Medicine
https://www.readbyqxmd.com/read/29121498/cardiac-involvement-in-myotonic-dystrophy-the-role-of-troponins-and-n-terminal-pro-b-type-natriuretic-peptide
#5
Rea Valaperta, Claudia De Siena, Rosanna Cardani, Fortunata Lombardia, Edina Cenko, Benedetta Rampoldi, Barbara Fossati, Elisa Brigonzi, Roberta Rigolini, Paola Gaia, Giovanni Meola, Elena Costa, Raffaele Bugiardini
BACKGROUND AND AIMS: Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are dominant inherited muscular dystrophies with multiple systemic involvement, often producing cardiac injury. This study sought to determine the clinical significance of elevated high sensitivity cardiac troponin T and I (hs-cTnT and hs-cTnI), and N-terminal pro B-type natriuretic peptide (NT-pro-BNP) in this population. METHODS: Sixty DM patients (35 men and 25 women; mean age: 45.1 years, range: 12-73 years) underwent clinical cardiac investigations and measurements of serum hs-cTnT, hs-cTnI, creatine kinase (CK), and NT-proBNP...
October 21, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/29117459/receptor-homodimerization-plays-a-critical-role-in-a-novel-dominant-negative-p2ry12-variant-identified-in-a-family-with-severe-bleeding
#6
Stuart J Mundell, David Rabbolini, Sara Gabrielli, Qiang Chen, Riyaad Aungraheeta, James L Hutchinson, Tatjana Kilo, Joel Mackay, Christopher M Ward, William Stevenson, Marie-Christine Morel-Kopp
BACKGROUND: Although inherited platelet disorders are still underdiagnosed worldwide, advances in molecular techniques are improving disease diagnosis and patient management. OBJECTIVE: To identify and characterize the mechanism underlying the bleeding phenotype in a Caucasian family with an autosomal dominant P2RY12 variant. METHODS: Full blood count, platelet aggregometry, flow cytometry and western-blotting were performed before NGS. Detailed molecular analysis of the identified P2Y12R receptor's variant was subsequently performed in mammalian cells over-expressing receptor constructs...
November 8, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/29104077/assessment-of-atp8b1-deficiency-in-pediatric-patients-with-cholestasis-using-peripheral-blood-monocyte-derived-macrophages
#7
Hisamitsu Hayashi, Sotaro Naoi, Takao Togawa, Yu Hirose, Hiroki Kondou, Yasuhiro Hasegawa, Daiki Abukawa, Mika Sasaki, Koji Muroya, Satoshi Watanabe, Satoshi Nakano, Kei Minowa, Ayano Inui, Akinari Fukuda, Mureo Kasahara, Hironori Nagasaka, Kazuhiko Bessho, Mitsuyoshi Suzuki, Hiroyuki Kusuhara
Progressive familial intrahepatic cholestasis type 1 (PFIC1), a rare inherited recessive disease resulting from a genetic deficiency in ATP8B1, progresses to liver failure. Because of the difficulty of discriminating PFIC1 from other subtypes of PFIC based on its clinical and histological features and genome sequencing, an alternative method for diagnosing PFIC1 is desirable. Herein, we analyzed human peripheral blood monocyte-derived macrophages (HMDM) and found predominant expression of ATP8B1 in interleukin-10 (IL-10)-induced M2c, a subset of alternatively activated macrophages...
October 7, 2017: EBioMedicine
https://www.readbyqxmd.com/read/29082709/-medicine-syndrome-research-and-analysis-of-professor-li-dian-gui-in-treating-chronic-atrophic-gastritis-with-intestinal-metaplasia
#8
Xiao-Fa Liu, Dian-Gui Li, Jian-Ping Liu, Yan-Ru Du, Hai-Yan Bai
In this article, medication characteristics of professor Li Dian-gui in treating chronic atrophic gastritis with intestinal metaplasia(CAGIM) were analyzed through traditional Chinese medicine inheritance support system(version 2.5). 276 cases and 625 prescriptions were collected to analyze five types of traditional Chinese medicine(TCM) syndromes and the medicine-syndrome correlation. The results showed that medication characteristics of professor Li Dian-gui in treating CAGIM included drug combination of aromatic medicine bitter-cold herbs, preferring to activating to invigorate the spleen and good at using the qi-regulating drugs...
May 2017: Zhongguo Zhong Yao za Zhi, Zhongguo Zhongyao Zazhi, China Journal of Chinese Materia Medica
https://www.readbyqxmd.com/read/29064542/elevated-leukocyte-count-as-a-harbinger-of-systemic-inflammation-disease-progression-and-poor-prognosis-a-review
#9
Piotr Paweł Chmielewski, Bartłomiej Strzelec
Total leukocyte count increases significantly in response to infection, trauma, inflammation, and certain diseases. Factors affecting leukocyte count in healthy adults include sex, hormonal milieu, genetic inheritance, stress level, diet, nutrition, and lifestyle (e.g. tobacco-induced inflammatory changes, chronic psychological stress, etc.). To date, numerous studies have reported that high but normal leukocyte counts at baseline predict increased cardiovascular and noncardiovascular mortality in older adults...
October 24, 2017: Folia Morphologica (Warsz)
https://www.readbyqxmd.com/read/29049846/successful-management-of-transfusion-dependent-congenital-dyserythropoietic-anemia-type-1b-with-interferon-alfa-2a
#10
Mathias Rathe, Michael Boe Møller, Pernille Wied Greisen, Niels Fisker
The congenital dyserythropoietic anemias (CDAs) are a group of rare inherited blood disorders characterized by ineffective erythropoiesis as the principal cause of anemia. We present a child with CDA 1b-the rarest and least well-described type-due to a mutation in the C15orf41 gene. The patient presented with severe in utero and neonatal manifestations, typical peripheral limb anomalies as well as rarely reported cardiac manifestations, visual impairment, short stature, and hip dysplasia. Anemia was complicated by iron overload and pronounced extra medullary erythropoiesis leading to skull deformities...
October 19, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29046209/-paroxysmal-muscle-weakness-liver-enlargement-and-hypoglycemia-in-a-boy
#11
Ya-Jie Cui, Chun-Lan Song, Yi-Bing Cheng
A boy aged 11 years was admitted due to intermittent weakness and difficulty in walking for 6 years, and hepatomegaly, glycopenia and unconsciousness for 4 years. The laboratory examinations showed severe metabolic acidosis, hypoglycemia, and abnormal liver function. CT scan showed marked liver enlargement with fat density shadow. The boy was given fluid infusion, correction of acidosis, intravenous injection of glucose, L-carnitine, compound vitamin B, and coenzyme Q10, but he was in a persistent coma and it was difficult to correct refractory metabolic acidosis and hypoglycemia...
October 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29039064/developments-in-hematopoietic-stem-cell-expansion-and-gene-editing-technologies
#12
Dogacan Yucel, Fatih Kocabas
Hematopoietic stem cells (HSCs) are rare cells, which housed in the adult bone marrow. They maintain all types of differentiated blood cells throughout life. Due to limited availability of HSCs for transplantation, treatment of various inherited bone marrow disorders and anemia requires the development of HSC expansion and gene editing technologies. To this end, various studies addressed the use of cytokines and growth factors for HSC expansion. Major hurdle with these studies was found to be spontaneous differentiation of HSCs into different lineages during ex vivo procedure...
October 17, 2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29036324/pancanqtl-systematic-identification-of-cis-eqtls-and-trans-eqtls-in-33-cancer-types
#13
Jing Gong, Shufang Mei, Chunjie Liu, Yu Xiang, Youqiong Ye, Zhao Zhang, Jing Feng, Renyan Liu, Lixia Diao, An-Yuan Guo, Xiaoping Miao, Leng Han
Expression quantitative trait locus (eQTL) analysis, which links variations in gene expression to genotypes, is essential to understanding gene regulation and to interpreting disease-associated loci. Currently identified eQTLs are mainly in samples of blood and other normal tissues. However, no database comprehensively provides eQTLs in large number of cancer samples. Using the genotype and expression data of 9196 tumor samples in 33 cancer types from The Cancer Genome Atlas (TCGA), we identified 5 606 570 eQTL-gene pairs in the cis-eQTL analysis and 231 210 eQTL-gene pairs in the trans-eQTL analysis...
September 25, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/29021902/significantly-elevated-foetal-haemoglobin-levels-in-individuals-with-glucose-6-phosphate-dehydrogenase-disease-and-or-sickle-cell-trait-a-cross-sectional-study-in-cape-coast-ghana
#14
Patrick Adu, Essel K M Bashirudeen, Florence Haruna, Edward Morkporkpor Adela, Richard K D Ephraim
BACKGROUND: Previously published data have demonstrated that sickle red blood cells produce twice as much reactive oxygen species (ROS) suggesting that co-inheritance of sickle cell disease (SCD) and glucose 6-phosphate dehydrogenase (G6PD) enzymopathy could lead to more severe anaemia during sickling crises. Elevated foetal haemoglobin (Hb F) levels have been shown to have positive modulatory effects on sickling crises and disease outcomes. This study sought to assess how inheritance of G6PD enzymopathy affects the level of Hb F and haemoglobin concentration in adults in steady state...
2017: BMC Hematology
https://www.readbyqxmd.com/read/28993958/functional-evaluation-of-an-ikbkg-variant-suspected-to-cause-immunodeficiency-without-ectodermal-dysplasia
#15
Glynis Frans, Jutte van der Werff Ten Bosch, Leen Moens, Rik Gijsbers, Majid Changi-Ashtiani, Hassan Rokni-Zadeh, Mohammad Shahrooei, Greet Wuyts, Isabelle Meyts, Xavier Bossuyt
Hypomorphic IKBKG mutations in males are typically associated with anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID). Some mutations cause immunodeficiency without EDA (NEMO-ID). The immunological profile associated with these NEMO-ID variants is not fully documented. We present a 2-year-old patient with suspected immunodeficiency in which a hemizygous p.Glu57Lys IKBKG variant was identified. At the age of 1 year, he had an episode of otitis media that evolved into a bilateral mastoiditis (Pseudomonas spp)...
November 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28980070/the-distribution-and-functional-relevance-analysis-of-runs-of-homozygosity-rohs-in-chinese-han-female-population
#16
Yi-Hua Lu, Bing-Hua Wang, Wei Xia, Xing-Bo Mo, Long-Fei Wu, Xiao-Wei Zhu, Pei He, Fang-Fei Xie, Xin Lu, Fei-Yan Deng, Shu-Feng Lei
Extended homozygosity is a genomic region in which the copies inherited from parents are identical, and has obvious inter-individual differences in length and frequency. Runs of homozygosity (ROHs), regarded as a type of structure variations, may have potential capacity in regulating gene transcription. To learn more about the genome-wide distribution of ROH regions in humans and understand the potential roles, this study applied ROH-based approach to quantify and characterize ROHs in 41 Chinese Han female subjects, and test potential associations between ROHs and mRNA expressions by eQTL analysis to ascertain whether ROHs are relevant to gene transcription in peripheral blood mononuclear cells (PBMCs)...
October 4, 2017: Molecular Genetics and Genomics: MGG
https://www.readbyqxmd.com/read/28936149/comparative-study-of-serum-8-hydroxydeoxy-guanosine-levels-among-healthy-offspring-of-diabetic-and-non-diabetic-parents
#17
Marghoob Hasan, Abdelmarouf Hassan Mohieldein, Fahad Rahib Almutairi
OBJECTIVE: Parental diabetic status might inherit the likelihood of disease susceptibility. The risk of Type 2 diabetes mellitus is increased among individuals with diabetic parents. Moreover, oxidative stress is thought to be a risk factor in the onset and progression of diabetes. 8-hydroxydeoxy-guanosine (8-OHdG) is widely analyzed biomarker to assess the oxidative DNA damage. We aimed to investigate that serum 8-OHdG level among offspring of diabetic and non-diabetic parents. MATERIALS AND METHODS: A total of 84 volunteers participated in the study...
July 2017: International Journal of Health Sciences
https://www.readbyqxmd.com/read/28921500/growth-hormone-therapy-for-people-with-thalassaemia
#18
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/28918066/enzymatic-testing-sensitivity-variability-and-practical-diagnostic-algorithm-for-pyruvate-dehydrogenase-complex-pdc-deficiency
#19
Ha Kyung Shin, George Grahame, Shawn E McCandless, Douglas S Kerr, Jirair K Bedoyan
Pyruvate dehydrogenase complex (PDC) deficiency is a major cause of primary lactic acidemia in children. Prompt and correct diagnosis of PDC deficiency and differentiating between specific vs generalized, or secondary deficiencies has important implications for clinical management and therapeutic interventions. Both genetic and enzymatic testing approaches are being used in the diagnosis of PDC deficiency. However, the diagnostic efficacy of such testing approaches for individuals affected with PDC deficiency has not been systematically investigated in this disorder...
September 8, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28916377/clinical-and-molecular-characterization-of-two-chinese-patients-with-type-2-congenital-generalized-lipodystrophy
#20
Ruimin Chen, Xin Yuan, Jian Wang, Ying Zhang
BACKGROUND: Type 2 congenital generalized lipodystrophy (CGL2, OMIM 269700) is a rare autosomal recessive disease, characterized by the generalized absence of adipose tissue at birth or in early infancy. Pathogenic variants in BSCL2 gene have been reported to be responsible for CGL2. The aim of this study is to analyze the clinical and genetic characteristics of two Chinese patients with CGL2, and with particular focus on the BSCL2 gene sequence variants. METHODS: Medical history, clinical manifestations, physical examination, laboratory data, and ultrasonography findings were analyzed for the two patients with CGL2...
December 30, 2017: Gene
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