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inheritance of blood types

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https://www.readbyqxmd.com/read/28508341/mitochondrial-dna-levels-in-huntington-disease-leukocytes-and-dermal-fibroblasts
#1
Paulina Jędrak, Magdalena Krygier, Katarzyna Tońska, Małgorzata Drozd, Magdalena Kaliszewska, Ewa Bartnik, Witold Sołtan, Emilia J Sitek, Anna Stanisławska-Sachadyn, Janusz Limon, Jarosław Sławek, Grzegorz Węgrzyn, Sylwia Barańska
Huntington disease (HD) is an inherited neurodegenerative disorder caused by mutations in the huntingtin gene. Involvement of mitochondrial dysfunctions in, and especially influence of the level of mitochondrial DNA (mtDNA) on, development of this disease is unclear. Here, samples of blood from 84 HD patients and 79 controls, and dermal fibroblasts from 10 HD patients and 9 controls were analysed for mtDNA levels. Although the type of mitochondrial haplogroup had no influence on the mtDNA level, and there was no correlation between mtDNA level in leukocytes in HD patients and various parameters of HD severity, some considerable differences between HD patients and controls were identified...
May 16, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28462595/intranasal-aav-mediated-gene-delivery-and-expression-of-human-iduronidase-in-the-cns-a-non-invasive-and-effective-approach-for-prevention-of-neurologic-disease-in-mucopolysaccharidosis-type-i
#2
Lalitha R Belur, Alexa Temme, Kelly M Podetz-Pedersen, Maureen Riedl, Lucy Vulchanova, Nicholas Robinson, Leah R Hanson, Karen F Kozarsky, Paul J Orchard, William H Frey Ii, Walter C Low, R Scott McIvor
Mucopolysaccharidosis type I (MPS I) is a progressive, multisystemic, inherited metabolic disease caused by deficiency of -L-iduronidase (IDUA). Current treatments for this disease are ineffective in treating CNS disease due to the inability of lysosomal enzymes to traverse the blood-brain barrier. We have taken a non-invasive and effective approach to the treatment of CNS disease by intranasal administration of an IDUA-encoding adeno-associated virus serotype 9 (AAV9) vector. Adult IDUA-deficient mice were immunotolerized at birth with human iduronidase (Aldurazyme), to prevent anti-IDUA immune response, and at 3 months of age were instilled intranasally with AAV9-IDUA vector...
May 2, 2017: Human Gene Therapy
https://www.readbyqxmd.com/read/28451866/the-116g%C3%A2-%C3%A2-a-msh6-and-ivs1-1121c%C3%A2-%C3%A2-t-pms2-genes-polymorphisms-modulate-the-risk-of-the-sporadic-colorectal-cancer-development-in-polish-population
#3
Piotr Zelga, Karolina Przybyłowska-Sygut, Marta Zelga, Adam Dziki, Ireneusz Majsterek
Colorectal cancer (CRC) is one of the most common cancers worldwide. DNA mismatch repair (MMR) is an evolutionarily conserved process that corrects mismatches generated during DNA replication. MMR defects were found to be associated with hereditary non-polyposis colorectal cancer (HNPCC) and a subset of sporadic colon cancers. The inheritance of common variations in MMR genes may influences individual susceptibility to the development of colorectal cancer. The purpose of the study was to evaluate the association between gene polymorphisms Glu39Gly (c...
April 27, 2017: Pathology Oncology Research: POR
https://www.readbyqxmd.com/read/28450662/comparative-serological-investigation-between-cat-and-tiger-blood-for-transfusion
#4
Naris Thengchaisri, Chayakrit Sinthusingha, Surapong Arthitwong, Panpicha Sattasathuchana
Evidence suggests that non-domesticated felids inherited the same AB-erythrocyte antigens as domestic cats. To study the possible compatibility of tiger blood with that of other endangered felidae, blood samples from captive tigers and domestic cats were subjected to in vitro study. The objectives of this study were to (1) identify whether the captive tigers had blood type AB and (2) determine the compatibility between the blood of captive tigers and that of domestic cats with a similar blood type. The anti-coagulated blood with ethylenediaminetetraacetic acid of 30 tigers was examined to determine blood type, and a crossmatching test was performed between tiger and cat blood...
April 28, 2017: Journal of Veterinary Medical Science
https://www.readbyqxmd.com/read/28435820/costs-of-hospital-admission-on-primary-immunodeficiency-diseases
#5
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/28432469/renal-findings-in-patients-with-mulibrey-nanism
#6
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/28409351/inflammation-and-fibrosis-in-polycystic-kidney-disease
#7
Cheng Jack Song, Kurt A Zimmerman, Scott J Henke, Bradley K Yoder
Polycystic kidney disease (PKD) is a commonly inherited disorder characterized by cyst formation and fibrosis (Wilson, N Engl J Med 350:151-164, 2004) and is caused by mutations in cilia or cilia-related proteins, such as polycystin 1 or 2 (Oh and Katsanis, Development 139:443-448, 2012; Kotsis et al., Nephrol Dial Transplant 28:518-526, 2013). A major pathological feature of PKD is the development of interstitial inflammation and fibrosis with an associated accumulation of inflammatory cells (Grantham, N Engl J Med 359:1477-1485, 2008; Zeier et al...
2017: Results and Problems in Cell Differentiation
https://www.readbyqxmd.com/read/28397221/-mutation-analysis-and-prenatal-diagnosis-for-a-case-of-spinal-muscular-atrophy-with-respiratory-distress-type-1
#8
Biao Zhang, Dandan Guo, Jiaying Zheng, Xinxin Lu, Xiumin Zhang, Yan'an Wu
OBJECTIVE: To detect potential mutation of immunoglobulin μ -binding protein 2 (IGHMBP2) gene in a two-year-old patient with spinal muscular atrophy with respiratory distress type 1 (SMARD1). METHODS: Genomic DNA was extracted from peripheral blood sample from the patient and her parents, as well as cord blood sample from the fetus. Potential mutations of the coding region of the IGHMBP2 gene was detected with PCR and Sanger sequencing. RESULTS: A heterozygous missense mutation c...
April 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28397058/clinical-and-biochemical-heterogeneity-between-patients-with-glycogen-storage-disease-type-ia-the-added-value-of-cusum-for-metabolic-control
#9
Fabian Peeks, Thomas A H Steunenberg, Foekje de Boer, M Estela Rubio-Gozalbo, Monique Williams, Rob Burghard, Fabienne Rajas, Maaike H Oosterveer, David A Weinstein, Terry G J Derks
OBJECTIVE: To study heterogeneity between patients with glycogen storage disease type Ia (GSD Ia), a rare inherited disorder of carbohydrate metabolism caused by the deficiency of glucose-6-phosphatase (G6Pase). STUDY DESIGN: Descriptive retrospective study of longitudinal clinical and biochemical data and long-term complications in 20 GSD Ia patients. We included 11 patients with homozygous G6PC mutations and siblings from four families carrying identical G6PC genotypes...
April 10, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28395798/generation-of-induced-pluripotent-stem-cells-from-a-patient-with-spinocerebellar-ataxia-type-3
#10
Bing-Wen Soong, Shih-Han Syu, Cheng-Hao Wen, Hui-Wen Ko, Mei-Ling Wu, Patrick C H Hsieh, Shiaw-Min Hwang, Huai-En Lu
Spinocerebellar ataxia type 3 (SCA3) is a dominantly inherited neurodegenerative disease caused by a trinucleotide repeat (CAG) expansion in the coding region of ATXN3 gene resulting in production of ataxin-3 with an elongated polyglutamine tract. Here, we generated induced pluripotent stem cells (iPSCs) from the peripheral blood mononuclear cells of a male patient with SCA3 by using the Sendai-virus delivery system. The resulting iPSCs had a normal karyotype, retained the disease-causing ATXN3 mutation, expressed pluripotent markers and could differentiate into the three germ layers...
January 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28395385/genetic-phenotypic-and-interferon-biomarker-status-in-adar1-related-neurological-disease
#11
Gillian I Rice, Naoki Kitabayashi, Magalie Barth, Tracy A Briggs, Annabel C E Burton, Maria Luisa Carpanelli, Alfredo M Cerisola, Cindy Colson, Russell C Dale, Federica Rachele Danti, Niklas Darin, Begoña De Azua, Valentina De Giorgis, Christian G L De Goede, Isabelle Desguerre, Corinne De Laet, Atieh Eslahi, Michael C Fahey, Penny Fallon, Alex Fay, Elisa Fazzi, Mark P Gorman, Nirmala Rani Gowrinathan, Marie Hully, Manju A Kurian, Nicolas Leboucq, Jean-Pierre S-M Lin, Matthew A Lines, Soe S Mar, Reza Maroofian, Laura Martí-Sanchez, Gary McCullagh, Majid Mojarrad, Vinodh Narayanan, Simona Orcesi, Juan Dario Ortigoza-Escobar, Belén Pérez-Dueñas, Florence Petit, Keri M Ramsey, Magnhild Rasmussen, François Rivier, Pilar Rodríguez-Pombo, Agathe Roubertie, Tommy I Stödberg, Mehran Beiraghi Toosi, Annick Toutain, Florence Uettwiller, Nicole Ulrick, Adeline Vanderver, Amy Waldman, John H Livingston, Yanick J Crow
We investigated the genetic, phenotypic, and interferon status of 46 patients from 37 families with neurological disease due to mutations in ADAR1. The clinicoradiological phenotype encompassed a spectrum of Aicardi-Goutières syndrome, isolated bilateral striatal necrosis, spastic paraparesis with normal neuroimaging, a progressive spastic dystonic motor disorder, and adult-onset psychological difficulties with intracranial calcification. Homozygous missense mutations were recorded in five families. We observed a p...
April 10, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28391649/prevalence-and-mode-of-inheritance-of-the-dal-blood-group-in-dogs-in-north-america
#12
S Goulet, U Giger, J Arsenault, A Abrams-Ogg, C C Euler, M-C Blais
BACKGROUND: The Dal blood group system was identified a decade ago by the accidental sensitization of a Dal- Dalmatian with a Dal+ blood transfusion. Similar Dal-related blood incompatibilities have been suspected in other Dalmatians, Doberman Pinschers, and other breeds. OBJECTIVES: To determine the prevalence and mode of inheritance of the Dal antigen expression in dogs. ANIMALS: A total of 1130 dogs including 128 Dalmatians, 432 Doberman Pinschers, 21 Shih Tzus, and 549 dogs of other breeds including 228 blood donors were recruited from North America between 2008 and 2015...
May 2017: Journal of Veterinary Internal Medicine
https://www.readbyqxmd.com/read/28388959/autosomal-recessive-inherited-bleeding-disorders-in-pakistan-a-cross-sectional-study-from-selected-regions
#13
Arshi Naz, Muhammad Younus Jamal, Samina Amanat, Ikram Din Ujjan, Akber Najmuddin, Humayun Patel, Fazle Raziq, Nisar Ahmed, Ayisha Imran, Tahir Sultan Shamsi
BACKGROUND: Autosomal recessive bleeding disorders (ARBDs) include deficiencies of clotting factors I, II, V, VII, X, XI, XIII, vitamin K dependent clotting factors, combined factor V & VIII, Von Willebrand Disease (vWD) type 3, Glanzmann's thrombasthenia (GT) and Bernard-Soulier syndrome. Patients with primary bleeding disorders from all the major provincial capitals of Pakistan were screened for ARBDs. Prothrombin (PT), activated partial thromboplastin time (APTT), bleeding time (BT) and fibrinogen levels were measured...
April 7, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28385189/suppression-of-nk-and-cd8-t-cells-reduces-astrogliosis-but-accelerates-cerebellar-dysfunction-and-shortens-life-span-in-a-mouse-model-of-sandhoff-disease
#14
Elizabeth J White, Bernardo L Trigatti, Suleiman A Igdoura
Sandhoff disease is an inherited lysosomal storage disease, resulting from the deficiency of lysosomal β-hexosaminidase A and B enzyme activity. The Hexb-/- mouse model recapitulates human disease and leads to fatal neurodegeneration and neuroinflammation. IL-15 is important for the proliferation of NK, NK T, and CD8(+) cytotoxic/memory T cells. In order to determine how changes to IL-15-dependent immune cell populations would alter the course of Sandhoff disease in mice, we generated a Hexb-/-Il-15-/- double knockout mouse and used motor behaviour tests, analyzed peripheral blood and brain leukocyte immunophenotypes, cytokine secretion, as well as examined markers of microgliosis, astrogliosis and apoptosis...
May 15, 2017: Journal of Neuroimmunology
https://www.readbyqxmd.com/read/28364583/creatine-kinase-in-human-erythrocytes-a-genetic-anomaly-reveals-presence-of-soluble-brain-type-isoform
#15
Laurence Kay, Malgorzata Tokarska-Schlattner, Bénédicte Quenot-Carrias, Betty Goudet, Peter Bugert, Heidwolf Arnold, Günter Scheuerbrandt, Uwe Schlattner
For maintaining energy homeostasis, creatine kinase (CK) is present at elevated levels in tissues with high and/or fluctuating energy requirements such as muscle, brain, and epithelia, while there is very few CK, if any, in peripheral blood cells. However, an ectopic expression of brain-type creatine kinase (BCK) has been reported for platelets and leukocytes in an autosomal dominant inherited anomaly named CKBE. Here we investigated CK in erythrocytes of CKBE individuals from eight unrelated families. The data revealed a varying but significant increase of CK activity in CKBE individuals as compared to controls, reaching an almost 800-fold increase in two CKBE individuals which also had increased erythrocyte creatine...
March 18, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28348114/mineralocorticoid-receptor-mutations
#16
Maria-Christina Zennaro, Fabio Luiz Fernandes-Rosa
Aldosterone and the mineralocorticoid receptor (MR) are key elements for maintaining fluid and electrolyte homeostasis as well as regulation of blood pressure. Loss of function mutations of the MR are responsible for renal pseudohypoaldosteronism type 1 (PHA1), a rare disease of mineralocorticoid resistance presenting in the newborn with weight loss, failure to thrive, vomiting and dehydration, associated with hyperkalemia and metabolic acidosis, despite extremely elevated levels of plasma renin and aldosterone...
March 27, 2017: Journal of Endocrinology
https://www.readbyqxmd.com/read/28338110/frequency-of-the-ugt1a1-28-polymorphism-in-a-romanian-cohort-of-gilbert-syndrome-individuals
#17
Viorica E Radoi, Radu I Ursu, Elena Poenaru, Cosmin Arsene, Camil L Bohiltea, Roxana Bohiltea
BACKGROUND AND AIMS: Gilbert syndrome (GS) is characterized by unconjugated hyperbilirubinemia without liver disease or overt hemolysis and it is found in 3-10% of the general population. Inherited hyperbilirubinaemia is attributable to a reduced UGT1A1 activity. The UGT1A1 promoter (TA) repeats variants are documented of being involved in abnormally elevated bilirubin levels. The aim of the present study is to analyze the impact of UGT1A1 promoter variants on bilirubin levels in Romanian patients clinically supected with GS...
March 2017: Journal of Gastrointestinal and Liver Diseases: JGLD
https://www.readbyqxmd.com/read/28337824/phenotype-genotype-correlations-of-pigo-deficiency-with-variable-phenotypes-from-infantile-lethality-to-mild-learning-difficulties
#18
Junpei Tanigawa, Haruka Mimatsu, Seiji Mizuno, Nobuhiko Okamoto, Daisuke Fukushi, Koji Tominaga, Hiroyuki Kidokoro, Yukako Muramatsu, Eriko Nishi, Shota Nakamura, Daisuke Motooka, Noriko Nomura, Kiyoshi Hayasaka, Tetsuya Niihori, Yoko Aoki, Shin Nabatame, Masahiro Hayakawa, Jun Natsume, Keiichi Ozono, Taroh Kinoshita, Nobuaki Wakamatsu, Yoshiko Murakami
Inherited GPI (glycosylphosphatidylinositol) deficiencies (IGDs), a recently defined group of diseases, show a broad spectrum of symptoms. Hyperphosphatasia mental retardation syndrome, also known as Mabry syndrome, is a type of IGDs. There are at least 26 genes involved in the biosynthesis and transport of GPI-anchored proteins; however, IGDs constitute a rare group of diseases, and correlations between the spectrum of symptoms and affected genes or the type of mutations have not been shown. Here, we report four newly identified and five previously described Japanese families with PIGO (phosphatidylinositol glycan anchor biosynthesis class O) deficiency...
March 23, 2017: Human Mutation
https://www.readbyqxmd.com/read/28256403/the-utility-of-99m-tc-dpd-scintigraphy-in-the-diagnosis-of-cardiac-amyloidosis-an-australian-experience
#19
Peter T Moore, Matthew K Burrage, Emily Mackenzie, W Philip Law, Dariusz Korczyk, Peter Mollee
BACKGROUND: The uptake of bone-seeking radiotracers in the amyloid heart is well recognised. 99(m)Tc-DPD has been shown to be highly sensitive for cardiac transthyretin (ATTR) amyloid in an overseas population, but is not registered for use in Australia. We explored its utility as a diagnostic tool within our population. METHODS: Patients diagnosed with AL and ATTR (wild-type and inherited) cardiac amyloidosis were prospectively recruited from the Princess Alexandra Hospital Amyloidosis Centre...
February 16, 2017: Heart, Lung & Circulation
https://www.readbyqxmd.com/read/28253600/-genetic-analysis-of-a-pedigree-with-primary-hypertrophic-osteoarthropathy
#20
X G Liu, J Y Li, Y Bai, L X Zhang, X Wu, Y Y Ma, L J Chai, L L Zheng
Objective: To analyze the clinical and genetic features of primary hypertrophic osteoarthropathy (PHO). Methods: The clinical data of one Chinese pedigree of PHO, namely pachydermoperiostosis (PDP) were collected.Blood samples were drawn from the propositus and other family members.DNA was extracted and genetic analysis was performed by Sanger method after PCR.The sequencing data of HPGD gene exons were analyzed by alignment with sequences from National Center for Biotechnology Information (NCBI). Results: (1)The propositus represented symptoms in childhood including clubbing fingers, sweating, seborrhea, joint swelling and so on...
March 1, 2017: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
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