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inheritance of blood types

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https://www.readbyqxmd.com/read/27906086/massive-adrenal-vein-aneurysm-mimicking-an-adrenal-tumor-in-a-patient-with-hemophilia-a-a-case-report-and-review-of-the-literature
#1
Richard Sleightholm, Steven Wahlmeier, Jeffrey S Carson, Andjela Drincic, Audrey Lazenby, Jason M Foster
BACKGROUND: Visceral venous aneurysms are exceedingly rare, and until now, there have been no reports of this phenomenon in the adrenal vasculature. This report details the first adrenal venous aneurysm reported in the literature. The aneurysm presented as an 18-cm mass that was initially suspected to be a hematoma or tumor on the basis of the complex medical history of the patient, which included hemophilia A and testicular cancer. After surgical excision, pathologic examination confirmed this mass to be a 15...
December 1, 2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/27900772/hematopoietic-stem-cell-transplantation-for-people-with-%C3%A3-thalassaemia-major
#2
REVIEW
Vanitha A Jagannath, Zbys Fedorowicz, Amani Al Hajeri, Akshay Sharma
BACKGROUND: Thalassemia is an inherited autosomal recessive blood disorder, caused by mutations in globin genes or their regulatory regions. This results in a reduced rate of synthesis of one of the globin chains that make up haemoglobin. In ß-thalassaemia major there is an underproduction of ß-globin chains combined with excess of free α-globin chains. The excess free α-globin chains precipitate in red blood cells, leading to their destruction (haemolysis) and ineffective erythropoiesis...
November 30, 2016: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/27896549/embryonal-rhabdomyosarcoma-in-a-patient-with-a-heterozygous-frameshift-variant-in-the-dicer1-gene-and-additional-manifestations-of-the-dicer1-syndrome
#3
Julia Fremerey, Stefan Balzer, Triantafyllia Brozou, Joerg Schaper, Arndt Borkhardt, Michaela Kuhlen
Germline mutations in the DICER1 gene are associated with an inherited cancer predisposition syndrome also known as the DICER1-syndrome, which is implicated in a broad range of tumors including pleuropulmonary blastoma, ovarian Sertoli-Leydig cell tumors, ciliary body medulloepithelioma (CBME), pituitary blastoma, embryonal rhabdomyosarcoma (eRMS), anaplastic renal sarcoma as well as ocular, sinonasal tumors ovarian sex-cord tumors, thyroid neoplasia and cystic nephroma. This study describes a novel, heterozygous frameshift DICER1 mutation in a patient, who is affected by different tumors of the DICER1-syndrome, including eRMS, CBME and suspected pleuropulmonary blastoma type I...
November 28, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27894304/brain-inflammation-is-accompanied-by-peripheral-inflammation-in-cstb-mice-a-model-for-progressive-myoclonus-epilepsy
#4
Olesya Okuneva, Zhilin Li, Inken Körber, Saara Tegelberg, Tarja Joensuu, Li Tian, Anna-Elina Lehesjoki
Progressive myoclonus epilepsy of Unverricht-Lundborg type (EPM1) is an autosomal recessively inherited childhood-onset neurodegenerative disorder, characterized by myoclonus, seizures, and ataxia. Mutations in the cystatin B gene (CSTB) underlie EPM1. The CSTB-deficient (Cstb (-/-) ) mouse model recapitulates key features of EPM1, including myoclonic seizures. The mice show early microglial activation that precedes seizure onset and neuronal loss and leads to neuroinflammation. We here characterized the inflammatory phenotype of Cstb (-/-) mice in more detail...
November 28, 2016: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/27864142/glycogen-storage-disease-type-ib-neutrophils-exhibit-impaired-cell-adhesion-and-migration
#5
Goo-Young Kim, Young Mok Lee, Joon Hyun Kwon, Hyun Sik Jun, Janice Chou
Glycogen storage disease type Ib (GSD-Ib), characterized by impaired glucose homeostasis, neutropenia, and neutrophil dysfunction, is an inherited autosomal recessive disorder caused by a deficiency in the glucose-6-phosphate transporter (G6PT). Neutrophils play an essential role in the defense against invading pathogens. The recruitment of neutrophils towards the inflammation sites in response to inflammatory stimuli is a tightly regulated process involving rolling, adhesion, and transmigration. In this study, we investigated the role of G6PT in neutrophil adhesion and migration using in vivo and in vitro models...
November 15, 2016: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/27863452/mutation-in-non-coding-rna-rnu12-causes-early-onset-cerebellar-ataxia
#6
Mahmoud Fawzi Elsaid, Nader Chalhoub, Tawfeg Ben-Omran, Pankaj Kumar, Hussein Kamel, Khalid Ibrahim, Yasmin Mohamoud, Eman Al-Dous, Iman Al-Azwani, Joel A Malek, Karsten Suhre, M Elizabeth Ross, Alice Abdel Aleem
OBJECTIVE: Exome sequences account for only 2% of the genome and may overlook mutations causing disease. To obtain a more complete view, whole genome sequencing (WGS) was analyzed in a large consanguineous family in which members displayed autosomal recessively inherited cerebellar ataxia manifesting before two years of age. METHODS: WGS from blood derived gDNA was used for homozygosity mapping and a rare variant search. RNA from isolated blood leukocytes was used for quantitative PCR, RNA sequencing and comparison of the transcriptomes of affected and unaffected family members...
November 18, 2016: Annals of Neurology
https://www.readbyqxmd.com/read/27814360/mutation-in-lim2-is-responsible-for-autosomal-recessive-congenital-cataracts
#7
Bushra Irum, Shahid Y Khan, Muhammad Ali, Haiba Kaul, Firoz Kabir, Bushra Rauf, Fareeha Fatima, Raheela Nadeem, Arif O Khan, Saif Al Obaisi, Muhammad Asif Naeem, Idrees A Nasir, Shaheen N Khan, Tayyab Husnain, Sheikh Riazuddin, Javed Akram, Allen O Eghrari, S Amer Riazuddin
PURPOSE: To identify the molecular basis of non-syndromic autosomal recessive congenital cataracts (arCC) in a consanguineous family. METHODS: All family members participating in the study received a comprehensive ophthalmic examination to determine their ocular phenotype and contributed a blood sample, from which genomic DNA was extracted. Available medical records and interviews with the family were used to compile the medical history of the family. The symptomatic history of the individuals exhibiting cataracts was confirmed by slit-lamp biomicroscopy...
2016: PloS One
https://www.readbyqxmd.com/read/27811305/ammecr1-a-single-point-mutation-causes-developmental-delay-midface-hypoplasia-and-elliptocytosis
#8
Gaia Andreoletti, Eleanor G Seaby, Jennifer M Dewing, Ita O'Kelly, Katherine Lachlan, Rodney D Gilbert, Sarah Ennis
BACKGROUND: Deletions in the Xq22.3-Xq23 region, inclusive of COL4A5, have been associated with a contiguous gene deletion syndrome characterised by Alport syndrome with intellectual disability (Mental retardation), Midface hypoplasia and Elliptocytosis (AMME). The extrarenal biological and clinical significance of neighbouring genes to the Alport locus has been largely speculative. We sought to discover a genetic cause for two half-brothers presenting with nephrocalcinosis, early speech and language delay and midface hypoplasia with submucous cleft palate and bifid uvula...
November 3, 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/27779681/slc25a13-cdna-cloning-analysis-using-peripheral-blood-lymphocytes-facilitates-the-identification-of-a-large-deletion-mutation-molecular-diagnosis-of-an-infant-with-neonatal-intrahepatic-cholestasis-caused-by-citrin-deficiency
#9
Han-Shi Zeng, Wei-Xia Lin, Shu-Tao Zhao, Zhan-Hui Zhang, Heng-Wen Yang, Feng-Ping Chen, Yuan-Zong Song, Zhi-Nan Yin
Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autosomal recessive disorder resulting from biallelic mutations of the SLC25A13 gene. Due to the lack of well‑recognized clinical or biochemical diagnostic criteria, the definitive diagnosis of this disease relies on the genetic analysis of SLC25A13 at present. As novel large deletion/insertion mutations of the SLC25A13 gene are difficult to detect using routine DNA analytic approaches, the timely diagnosis of patients with these types of mutations remains a challenge...
October 21, 2016: Molecular Medicine Reports
https://www.readbyqxmd.com/read/27766062/de-novo-mutation-and-somatic-mosaicism-of-gene-mutation-in-type-2a-2b-and-2m-vwd
#10
Ming-Ching Shen, Ming Chen, Gwo-Chin Ma, Shun-Ping Chang, Ching-Yeh Lin, Bo-Do Lin, Han-Ni Hsieh
BACKGROUND: Von Willebrand disease (VWD) is not uncommon in Taiwan. In type 2 or type 3 VWD hemorrhagic symptoms are severer and laboratory data relatively more distinctive. De novo mutation and somatic mosaicism of type 2 VWD gene were rarely reported. Therefore clinical, laboratory and genetic studies of only type 2A, 2B and 2M VWD will be presented and issues of de novo mutation and somatic mosaicism will be explored. METHODS: Fifty-four patients belonging to 23 unrelated families from all around the country in whom type 2 VWD exclusive of type 2N has been diagnosed not only by clinical and routine laboratory studies but also by genetic confirmation during 1990-2015 were investigated...
2016: Thrombosis Journal
https://www.readbyqxmd.com/read/27756748/metformin-improves-defective-hematopoiesis-and-delays-tumor-formation-in-fanconi-anemia-mice
#11
Qing-Shuo Zhang, Weiliang Tang, Matthew Deater, Ngoc Phan, Andrea N Marcogliese, Hui Li, Muhsen Al-Dhalimy, Angela Major, Susan Olson, Raymond J Monnat, Markus Grompe
Fanconi anemia is an inherited bone marrow failure disorder associated with a high incidence of leukemia and solid tumors. Bone marrow transplantation is currently the only curative therapy for the hematopoietic complications of this disorder. However, long-term morbidity and mortality remain very high and new therapeutics are badly needed. Here we show that the widely used diabetes drug metformin improves hematopoiesis and delays tumor formation in Fancd2(-/-) mice. Metformin is the first compound reported to improve both of these Fanconi anemia phenotypes...
October 18, 2016: Blood
https://www.readbyqxmd.com/read/27748541/a-novel-variant-in-the-slc12a1-gene-in-two-families-with-antenatal-bartter-syndrome
#12
Anders Breinbjerg, Charlotte Siggaard Rittig, Niels Gregersen, Søren Rittig, Jane Hvarregaard Christensen
AIM: Bartter syndrome is an autosomal recessive inherited disease in which patients present with hypokalaemia and metabolic alkalosis. We present two apparently non-related cases with antenatal Bartter syndrome type I, due to a novel variant in the SLC12A1 gene encoding the bumetanide-sensitive sodium-(potassium)-chloride cotransporter 2 in the thick ascending limb of the loop of Henle. METHODS: Blood samples were received from the two cases and 19 of their relatives and deoxyribonucleic acid was extracted...
October 17, 2016: Acta Paediatrica
https://www.readbyqxmd.com/read/27696975/a-genetic-features-and-gene-interaction-study-for-identifying-the-genes-that-cause-hereditary-spherocytosis
#13
Jing Chen, Yang Zhou, Yaqi Gao, Weijie Cao, Hui Sun, Yanfang Liu, Chong Wang
OBJECTIVE: Hereditary spherocytosis (HS) is a hemolytic disorder characterized by the presence of spherical-shaped red blood cells on the peripheral blood smear. Non-dominant HS cases are due to de novo mutations of the type associated with dominant inheritance or recessive genes. This study is aimed to identify HS-related biological mechanisms and predicting HS candidate genes. METHODS: We searched the known HS-related genes from the public databases. By analyzing the gene ontology (GO) and biological pathway of these genes, we extracted the optimal features to encode HS genes...
October 3, 2016: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/27660287/nicotine-mediates-cd161a-renal-macrophage-infiltration-and-premature-hypertension-in-the-spontaneously-hypertensive-rat
#14
Sailesh C Harwani, Jason Ratcliff, Fayyaz S Sutterwala, Zuhair K Ballas, David K Meyerholz, Mark W Chapleau, Francois M Abboud
RATIONALE: Renal inflammation contributes to the pathophysiology of hypertension. CD161a(+) immune cells are dominant in the (SHR) spontaneously hypertensive rat and expand in response to nicotinic cholinergic activation. OBJECTIVE: We aimed to phenotype CD161a(+) immune cells in prehypertensive SHR after cholinergic activation with nicotine and determine if these cells are involved in renal inflammation and the development of hypertension. METHODS AND RESULTS: Studies used young SHR and WKY (Wistar-Kyoto) rats...
October 28, 2016: Circulation Research
https://www.readbyqxmd.com/read/27639389/blood-group-antigen-expression-is-involved-in-c-albicans-interaction-with-buccal-epithelial-cells
#15
Arun V Everest-Dass, Daniel Kolarich, Dana Pascovici, Nicolle H Packer
Human blood group polymorphisms are known to be determined by the expression of A, B or H antigens and the Lewis antigens. Protection against microbial infections has been associated with inheritance of polymorphisms in genes encoding and regulating the expression of ABH and Lewis antigens in bodily secretions and epithelial tissue surfaces, subsequently resulting in the presentation of different glycosylated terminal antigens on the cell surface. We investigated the role of blood group antigens in diversifying the glycosylation of buccal epithelial cells (BEC) that line the oral cavity...
September 17, 2016: Glycoconjugate Journal
https://www.readbyqxmd.com/read/27638202/leveraging-premalignant-biology-for-immune-based-cancer-prevention
#16
Avrum Spira, Mary L Disis, John T Schiller, Eduardo Vilar, Timothy R Rebbeck, Rafael Bejar, Trey Ideker, Janine Arts, Matthew B Yurgelun, Jill P Mesirov, Anjana Rao, Judy Garber, Elizabeth M Jaffee, Scott M Lippman
Prevention is an essential component of cancer eradication. Next-generation sequencing of cancer genomes and epigenomes has defined large numbers of driver mutations and molecular subgroups, leading to therapeutic advances. By comparison, there is a relative paucity of such knowledge in premalignant neoplasia, which inherently limits the potential to develop precision prevention strategies. Studies on the interplay between germ-line and somatic events have elucidated genetic processes underlying premalignant progression and preventive targets...
September 27, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27627571/clinical-biochemical-and-molecular-characteristics-of-the-main-types-of-porphyria
#17
REVIEW
Urszula Szlendak, Ksenia Bykowska, Agnieszka Lipniacka
Porphyrias are diverse disorders that arise from various inherited enzyme defects in the heme biosynthesis pathway, except for porphyria cutanea tarda (PCT), in which the enzyme deficiency in most cases is acquired. The biosynthetic blocks resulting from the defective enzymes are largely expressed either in the liver or bone marrow, the sites where the majority of heme is produced. Although the pathophysiologic mechanisms of the clinical manifestations of the porphyrias are not fully understood, two cardinal features prevail: skin photosensitivity and neurologic symptoms of intermittent autonomic neuropathy, acute neurovisceral attacks, and disorders of the nervous system...
March 2016: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/27623250/exome-sequencing-coupled-with-mrna-analysis-identifies-ndufaf6-as-a-leigh-gene
#18
Laura Bianciardi, Valentina Imperatore, Erika Fernandez-Vizarra, Angela Lopomo, Micol Falabella, Simone Furini, Paolo Galluzzi, Salvatore Grosso, Massimo Zeviani, Alessandra Renieri, Francesca Mari, Elisa Frullanti
We report here the case of a young male who started to show verbal fluency disturbance, clumsiness and gait anomalies at the age of 3.5years and presented bilateral striatal necrosis. Clinically, the diagnosis was compatible with Leigh syndrome but the underlying molecular defect remained elusive even after exome analysis using autosomal/X-linked recessive or de novo models. Dosage of respiratory chain activity on fibroblasts, but not in muscle, underlined a deficit in complex I. Re-analysis of heterozygous probably pathogenic variants, inherited from one healthy parent, identified the p...
September 3, 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27622788/utility-of-the-von-willebrand-factor-collagen-binding-assay-in-the-diagnosis-of-von-willebrand-disease
#19
Emmanuel J Favaloro
von Willebrand Disease (VWD) is the most common inherited bleeding disorder and also arises as an acquired defect (AVWS). VWD and AVWS are due to quantitative deficiencies and/or qualitative defects in von Willebrand factor (VWF), an adhesive plasma protein with multiple activities. Diagnosis of VWD is problematic, being subject to overdiagnosis, underdiagnosis, and misdiagnosis. This is largely due to limitations in current test procedures and an over-reliance on these imperfect test systems for clinical diagnosis...
September 13, 2016: American Journal of Hematology
https://www.readbyqxmd.com/read/27599872/blood-type-biochemistry-and-human-disease
#20
REVIEW
D Rose Ewald, Susan C J Sumner
Associations between blood type and disease have been studied since the early 1900s when researchers determined that antibodies and antigens are inherited. In the 1950s, the chemical identification of the carbohydrate structure of surface antigens led to the understanding of biosynthetic pathways. The blood type is defined by oligosaccharide structures, which are specific to the antigens, thus, blood group antigens are secondary gene products, while the primary gene products are various glycosyltransferase enzymes that attach the sugar molecules to the oligosaccharide chain...
November 2016: Wiley Interdisciplinary Reviews. Systems Biology and Medicine
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