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inheritance of blood types

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https://www.readbyqxmd.com/read/28936149/comparative-study-of-serum-8-hydroxydeoxy-guanosine-levels-among-healthy-offspring-of-diabetic-and-non-diabetic-parents
#1
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
#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/28918066/enzymatic-testing-sensitivity-variability-and-practical-diagnostic-algorithm-for-pyruvate-dehydrogenase-complex-pdc-deficiency
#3
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
#4
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...
September 12, 2017: Gene
https://www.readbyqxmd.com/read/28911234/mucopolysaccharidosis-iiib-sanfilippo-syndrome-b-in-a-commercial-emu-dromaius-novaehollandiae-flock
#5
Seiche C Genger, Keijiro Mizukami, Michael P Martin, Jeffrey R Applegate, H John Barnes, Urs Giger
Clinicopathological diagnosis of mucopolysaccharidosis type IIIB (MPS IIIB; Sanfilippo syndrome B), an inherited autosomal recessive lysosomal storage disease, as a cause of losses in a commercial emu flock and screening breeders using a mutation specific DNA test are described. Between 2012 and 2015, ∼5-10 juvenile emus from a few weeks to several months of age developed progressive neurological signs and died while others in the flock remained healthy. Necropsy of two affected siblings revealed multiple sites of haemorrhage, cytoplasmic periodic acid-Schiff and Luxol fast blue positive inclusions in neurons, and aggregates of foamy macrophages in visceral organs...
September 15, 2017: Avian Pathology: Journal of the W.V.P.A
https://www.readbyqxmd.com/read/28880901/abo-blood-type-and-the-risk-of-cancer-findings-from-the-shanghai-cohort-study
#6
Joyce Yongxu Huang, Renwei Wang, Yu-Tang Gao, Jian-Min Yuan
ABO blood type is an inherited characteristic. The associations between ABO blood type and risk of all cancer and specific cancers were examined in a prospective cohort study of 18,244 Chinese men enrolled in 1986. During the 25 years of follow-up, 3,973 men developed cancer including 964 lung cancers, 624 colorectal cancers, 560 gastric cancers, 353 liver cancers, and 172 urinary bladder cancers. Hazard ratios (HR) for all cancer and specific cancers by ABO blood type were calculated using Cox proportional hazards models...
2017: PloS One
https://www.readbyqxmd.com/read/28880588/how-sensitive-is-genetic-data
#7
Murat Sariyar, Stephanie Suhr, Irene Schlünder
The rising demand to use genetic data for research goes hand in hand with an increased awareness of privacy issues related to its use. Using human genetic data in a legally compliant way requires an examination of the legal basis as well as an assessment of potential disclosure risks. Focusing on the relevant legal framework in the European Union, we discuss open questions and uncertainties around the handling of genetic data in research, which can result in the introduction of unnecessary hurdles for data sharing...
September 7, 2017: Biopreservation and Biobanking
https://www.readbyqxmd.com/read/28870047/-expert-consensus-for-the-diagnosis-and-treatment-of-patients-with-gitelman-syndrome
#8
(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/28841764/how-do-people-become-plasma-and-platelet-donors-in-a-vnr-context
#9
Johanne Charbonneau, Marie-Soleil Cloutier, Balia Fainstein
BACKGROUND: The demand for therapeutic plasma-derived products poses a challenge to blood collection agencies (BCAs). In 2014-2015, the volume of plasma sent for fractionation met 17.7% of Quebec's needs for immunoglobulins. This article aims to offer an exploration of the paths blood donors follow in order to become plasma and platelet donors (PPDs). STUDY DESIGN AND METHOD: This analysis is based on semi-structured interviews with 50 PPDs in Quebec, Canada. Our analysis focused on the occurrence of events and the presence of contextual elements identified through: (1) factual data on PPDs; and (2) what PPDs identified as being an influence on their donation experience...
August 25, 2017: Journal of Clinical Apheresis
https://www.readbyqxmd.com/read/28835631/neuropilin-1-sequestration-by-neuropathogenic-mutant-glycyl-trna-synthetase-is-permissive-to-vascular-homeostasis
#10
James N Sleigh, Adriana Gómez-Martín, Na Wei, Ge Bai, Xiang-Lei Yang, Giampietro Schiavo
The mechanism by which dominantly inherited mutations in the housekeeping gene GARS, which encodes glycyl-tRNA synthetase (GlyRS), mediate selective peripheral nerve toxicity resulting in Charcot-Marie-Tooth disease type 2D (CMT2D) is still largely unresolved. The transmembrane receptor protein neuropilin 1 (Nrp1) was recently identified as an aberrant extracellular binding partner of mutant GlyRS. Formation of the Nrp1/mutant GlyRS complex antagonises Nrp1 interaction with one of its main natural ligands, vascular endothelial growth factor-A (VEGF-A), contributing to neurodegeneration...
August 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28835241/rectal-carcinoma-and-multiple-gastrointestinal-stromal-tumors-gist-of-the-small-intestine-in-a-patient-with-neurofibromatosis-type-1-a-case-report
#11
Yuhei Hakozaki, Shinichi Sameshima, Teppei Tatsuoka, Takashi Okuyama, Yukinori Yamagata, Tamaki Noie, Masatoshi Oya, Akiko Fujii, Yoshihiko Ueda, Chieko Shimura, Kazumoto Katagiri
BACKGROUND: Neurofibromatosis type 1 (NF1) is an autosomally dominant inherited disorder characterized by multiple pigmented skin spots (café-au-lait spots) and neurofibroma. NF1 is associated with a wide variety of benign or malignant tumors. We report a NF1 patient who received surgical treatment for rectal carcinoma and multifocal small intestinal gastrointestinal stromal tumors (GISTs). CASE PRESENTATION: A 70-year-old female patient with NF1 was referred to our hospital after a positive fecal occult blood test...
August 23, 2017: World Journal of Surgical Oncology
https://www.readbyqxmd.com/read/28808920/prospective-turkish-cohort-study-to-investigate-the-frequency-of-niemann-pick-disease-type-c-mutations-in-consanguineous-families-with-at-least-one-homozygous-family-member
#12
Meral Topçu, Dilek Aktas, Merih Öztoprak, Neslihan Önenli Mungan, Aysel Yuce, Mehmet Alikasifoglu
BACKGROUND: Niemann-Pick disease Type C (NP-C) is a rare, autosomal recessive lysosomal storage disorder caused by mutations in NPC1 or NPC2 genes. Diagnosis of NP-C can be challenging and is frequently delayed. Identifying mutations in individuals with NP-C and their relatives enables genetic counseling and prenatal diagnosis and may support earlier diagnosis. Here we report findings from a prospective cohort study in Turkey, using targeted genetic screening of the families of NP-C probands with homozygous NPC1 or NPC2 mutations...
August 14, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28803436/acute-regulated-expression-of-pendrin-in-human-urinary-exosomes
#13
Ganesh Pathare, Nasser Dhayat, Nilufar Mohebbi, Carsten A Wagner, Lydie Cheval, Thomas J Neuhaus, Daniel G Fuster
It is well known that pendrin, an apical Cl(-)/HCO3(-)exchanger in type B intercalated cells, is modulated by chronic acid-base disturbances and electrolyte intake. To study this adaptation further at the acute level, we analyzed urinary exosomes from individuals subjected to oral acute acid, alkali, and NaCl loading. Acute oral NH4Cl loading (n = 8) elicited systemic acidemia with a drop in urinary pH and an increase in urinary NH4 excretion. Nadir urinary pH was achieved 5 h after NH4Cl loading. Exosomal pendrin abundance was dramatically decreased at 3 h after acid loading...
August 12, 2017: Pflügers Archiv: European Journal of Physiology
https://www.readbyqxmd.com/read/28803391/mutational-analysis-of-the-rb1-gene-and-the-inheritance-patterns-of-retinoblastoma-in-jordan
#14
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/28802248/utility-of-rapid-whole-exome-sequencing-in-the-diagnosis-of-neonatal-niemann-pick-disease-type-c-presenting-with-fetal-hydrops-and-liver-failure
#15
Mersedeh Rohanizadegan, Sarah El-Almery, Anne O'Donnell-Luria, Ivana Mihalek, Peggy Chen, Marilyn Sanders, Kristen Leeman, Megan Cho, Christina Hung, Olaf Bodamer
Rapid whole exome sequencing (rWES) is increasingly used in critically ill newborn infants to inform about diagnosis, clinical management and prognosis. Here we report a male newborn infant with hydrops, pancytopenia and acute liver failure who was listed for liver transplantation. Given the acuity of the presentation, the procedure related morbidity and mortality and lack of diagnosis we employed rWES in the proband and both parents with a turn-around time of 10 business days. rWES returned one maternally inherited, likely pathogenic and one paternally inherited, likely pathogenic variant in NPC1 suggestive of a diagnosis of Niemann Pick disease type C (NPC)...
August 11, 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28769107/innate-immune-basis-for-rift-valley-fever-susceptibility-in-mouse-models
#16
Rashida Lathan, Dominique Simon-Chazottes, Grégory Jouvion, Ophélie Godon, Marie Malissen, Marie Flamand, Pierre Bruhns, Jean-Jacques Panthier
Rift Valley fever virus (RVFV) leads to varied clinical manifestations in animals and in humans that range from moderate fever to fatal illness, suggesting that host immune responses are important determinants of the disease severity. We investigated the immune basis for the extreme susceptibility of MBT/Pas mice that die with mild to acute hepatitis by day 3 post-infection compared to more resistant BALB/cByJ mice that survive up to a week longer. Lower levels of neutrophils observed in the bone marrow and blood of infected MBT/Pas mice are unlikely to be causative of increased RVFV susceptibility as constitutive neutropenia in specific mutant mice did not change survival outcome...
August 2, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28755517/morphological-features-of-congenital-dyserythropoietic-anemia-type-i-the-role-of-electron-microscopy-in-diagnosis
#17
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/28727801/proponent-or-collaborative-physician-perspectives-and-approaches-to-disease-modifying-therapies-in-sickle-cell-disease
#18
Nitya Bakshi, Cynthia B Sinha, Diana Ross, Kirshma Khemani, George Loewenstein, Lakshmanan Krishnamurti
Sickle cell disease (SCD) is an inherited blood disorder that primarily affects African-American and other ethnic minority populations. There are three available disease-modifying therapies for sickle cell disease: hydroxyurea (HU), bone marrow transplantation (BMT), and chronic blood transfusion (CBT). Since these treatments vary in their therapeutic intent, efficacy in preventing progression of the disease, short and long-term adverse effects, costs and patient burden, the decision-making process regarding these therapies is complicated for both the patient and healthcare provider...
2017: PloS One
https://www.readbyqxmd.com/read/28713862/metabolic-surgery-gastric-bypass-for-the-treatment-of-type-2-diabetes-mellitus
#19
REVIEW
Maria Del Pilar Quevedo, Mariano Palermo, Edgardo Serra, Marianela A Ackermann
Type 2 diabetes mellitus (T2DM) is one of the largest health emergencies of the 21st century given the worldwide increase of obesity during the last decades and its close association. T2DM is an inherited, polygenic and chronic disease caused by the interaction between several genetic variants in genes and the environment. The continuous search for new and more effective tools to achieve appropriate glycemic control became imperative in order to reduce long-term complications and mortality rates related to T2DM...
2017: Translational Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28691229/desmopressin-use-for-minimising-perioperative-blood-transfusion
#20
REVIEW
Michael J Desborough, Kathryn Oakland, Charlotte Brierley, Sean Bennett, Carolyn Doree, Marialena Trivella, Sally Hopewell, Simon J Stanworth, Lise J Estcourt
BACKGROUND: Blood transfusion is administered during many types of surgery, but its efficacy and safety are increasingly questioned. Evaluation of the efficacy of agents, such as desmopressin (DDAVP; 1-deamino-8-D-arginine-vasopressin), that may reduce perioperative blood loss is needed. OBJECTIVES: To examine the evidence for the efficacy of DDAVP in reducing perioperative blood loss and the need for red cell transfusion in people who do not have inherited bleeding disorders...
July 10, 2017: Cochrane Database of Systematic Reviews
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