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https://www.readbyqxmd.com/read/30385458/a-novel-pathogenic-ugt1a1-variant-in-a-sudanese-child-with-type-i-crigler-najjar-syndrome
#1
Walaa Elfar, Erkka Jarvinen, Weizhen Ji, Johanna Mosorin, Annalisa G Sega, Alina C Iuga, Steven J Lobritto, Monica Konstantino, Albert Chan, Moshe Finel, Saquib A Lakhani
Uridine diphosphate glucuronosyltransferases (UGTs) are key enzymes responsible for the body's ability to process of a variety of endogenous and exogenous compounds. Significant gains in the understanding of UGT function have come from the analysis of variants seen in patients. We cared for a Sudanese child who presented with clinical features of Type I Crigler-Najjar syndrome (CN-I), namely severe unconjugated hyperbilirubinemia leading to liver transplantation. CN-I is an autosomal recessive disorder caused by damaging mutations in the gene for UGT1A1, the hepatic enzyme responsible for bilirubin conjugation in humans...
November 1, 2018: Drug Metabolism and Disposition: the Biological Fate of Chemicals
https://www.readbyqxmd.com/read/30352563/intra-familial-phenotypic-heterogeneity-in-a-sudanese-family-with-dars2-related-leukoencephalopathy-brainstem-and-spinal-cord-involvement-and-lactate-elevation-a-case-report
#2
Ashraf Yahia, Liena Elsayed, Arwa Babai, Mustafa A Salih, Sarah Misbah El-Sadig, Mutaz Amin, Mahmoud Koko, Rayan Abubakr, Razaz Idris, Shaimaa Omer M A Taha, Salah A Elmalik, Alexis Brice, Ammar Eltahir Ahmed, Giovanni Stevanin
BACKGROUND: Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL, OMIM #611105) is a genetic disease of the central nervous system characterized by lower limb spasticity, cerebellar ataxia and involvement of the dorsal column. The disease is caused by mutations in the DARS2 gene but has never been reported in sub-Saharan Africa so far. CASE PRESENTATION: Two siblings, aged 18 years and 15 years, from a consanguineous family presented with pyramidal signs and symptoms since infancy and developmental delay...
October 23, 2018: BMC Neurology
https://www.readbyqxmd.com/read/30345904/impact-of-pyroxd1-deficiency-on-cellular-respiration-and-correlations-with-genetic-analyses-of-limb-girdle-muscular-dystrophy-in-saudi-arabia-and-sudan
#3
Madhurima Saha, Hemakumar M Reddy, Mustafa A Salih, Elicia Estrella, Michael D Jones, Satomi Mitsuhashi, Kyung-Ah Cho, Silveli Suzuki-Hatano, Skylar A Rizzo, Muddathir H Hamad, Maowia M Mukhtar, Ahlam A Hamed, Maha A Elseed, Monkol Lek, Elise Valkanas, Daniel G MacArthur, Louis M Kunkel, Christina A Pacak, Isabelle Draper, Peter B Kang
Next-generation sequencing is commonly used to screen for pathogenic mutations in families with Mendelian disorders, but due to the pace of discoveries, gaps have widened for some diseases between genetic and pathophysiological knowledge. We recruited and analyzed 16 families with limb-girdle muscular dystrophy (LGMD) of Arab descent from Saudi Arabia and Sudan who did not have confirmed genetic diagnoses. The analysis included both traditional and next-generation sequencing approaches. Cellular and metabolic studies were performed on Pyroxd1 siRNA C2C12 myoblasts and controls...
November 1, 2018: Physiological Genomics
https://www.readbyqxmd.com/read/30169133/the-impact-of-pyroxd1-deficiency-on-cellular-respiration-and-correlations-with-genetic-analyses-of-limb-girdle-muscular-dystrophy-in-saudi-arabia-and-sudan
#4
Madhurima Saha, Hemakumar M Reddy, Mustafa Salih, Elicia Estrella, Michael D Jones, Satomi Mitsuhashi, Kyung-Ah Cho, Silveli Suzuki-Hatano, Skylar A Rizzo, Muddathir H Hamad, Maowia M Mukhtar, Ahlam A Hamed, Maha A Elseed, Monkol Lek, Elise Valkanas, Daniel G MacArthur, Louis M Kunkel, Christina A Pacak, Isabelle Draper, Peter B Kang
Next generation sequencing is commonly used to screen for pathogenic mutations in families with Mendelian disorders, but due to the pace of discoveries, gaps have widened for some diseases between genetic and pathophysiological knowledge. We recruited and analyzed 16 families with limb-girdle muscular dystrophy (LGMD) of Arab descent from Saudi Arabia and Sudan who did not have confirmed genetic diagnoses. The analysis included both traditional and next generation sequencing approaches. Cellular and metabolic studies were performed on Pyroxd1 siRNA C2C12 myoblasts and controls...
August 31, 2018: Physiological Genomics
https://www.readbyqxmd.com/read/30119671/diversity-pattern-of-duffy-binding-protein-sequence-among-duffy-negatives-and-duffy-positives-in-sudan
#5
Mohammad Rafiul Hoque, Mohammed Mohieldien Abbas Elfaki, Md Atique Ahmed, Seong-Kyun Lee, Fauzi Muh, Musab M Ali Albsheer, Muzamil Mahdi Abdel Hamid, Eun-Taek Han
BACKGROUND: Vivax malaria is a leading public health concern worldwide. Due to the high prevalence of Duffy-negative blood group population, Plasmodium vivax in Africa historically is less attributable and remains a neglected disease. The interaction between Duffy binding protein and its cognate receptor, Duffy antigen receptor for chemokine plays a key role in the invasion of red blood cells and serves as a novel vaccine candidate against P. vivax. However, the polymorphic nature of P...
August 17, 2018: Malaria Journal
https://www.readbyqxmd.com/read/30016714/analysis-of-genetic-polymorphisms-and-tropism-in-east-african-leishmania-donovani-by-amplified-fragment-length-polymorphism-and-kdna-minicircle-sequencing
#6
Hanan T Jaber, Asrat Hailu, Francine Pratlong, Patrick Lami, Patrick Bastien, Charles L Jaffe
Visceral leishmaniasis (VL), the most severe form of leishmaniasis, is caused by Leishmania donovani. In addition to fatal VL, these parasites also cause skin diseases in immune-competent and -suppressed people, post-kala azar dermal leishmaniasis (PKDL) and HIV/VL co-infections, respectively. Genetic polymorphism in 36 Ethiopian and Sudanese L. donovani strains from VL, PKDL and HIV/VL patients was examined using Amplified Fragment Length Polymorphism (AFLP), kDNA minicircle sequencing and Southern blotting...
November 2018: Infection, Genetics and Evolution
https://www.readbyqxmd.com/read/29739362/case-report-of-a-novel-homozygous-splice-site-mutation-in-pla2g6-gene-causing-infantile-neuroaxonal-dystrophy-in-a-sudanese-family
#7
Liena E O Elsayed, Inaam N Mohammed, Ahlam A A Hamed, Maha A Elseed, Mustafa A M Salih, Ashraf Yahia, Rayan A Siddig, Mutaz Amin, Mahmoud Koko, Mustafa I Elbashir, Muntaser E Ibrahim, Alexis Brice, Ammar E Ahmed, Giovanni Stevanin
BACKGROUND: Infantile neuroaxonal dystrophy (INAD) is a rare hereditary neurological disorder caused by mutations in PLA2G6. The disease commonly affects children below 3 years of age and presents with delay in motor skills, optic atrophy and progressive spastic tetraparesis. Studies of INAD in Africa are extremely rare, and genetic studies from Sub Saharan Africa are almost non-existent. CASE PRESENTATION: Two Sudanese siblings presented, at ages 18 and 24 months, with regression in both motor milestones and speech development and hyper-reflexia...
May 8, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29660557/theileria-lestoquardi-in-sudan-is-highly-diverse-and-genetically-distinct-from-that-in-oman
#8
Hoyam Awad, Salama Al-Hamidhi, Abdel-Rahim M El Hussein, Younis Mohammed Zein Yousif, Khalid M Taha, Dia A Salih, William Weir, Hamza A Babiker
Malignant ovine theileriosis is a severe tick-borne protozoan disease of sheep and other small ruminants which is widespread in sub-Saharan Africa and the Middle East. The disease is of considerable economic importance in Sudan as the export of livestock provides a major contribution to the gross domestic product of this country. Molecular surveys have demonstrated a high prevalence of sub-clinical infections of Theileria lestoquardi, the causative agent, among small ruminants. No information is currently available on the extent of genetic diversity and genetic exchange among parasites in different areas of the country...
April 13, 2018: Infection, Genetics and Evolution
https://www.readbyqxmd.com/read/29516882/influence-of-interferon-gamma-receptor-1-gene-polymorphisms-on-the-susceptibility-to-pulmonary-tuberculosis-among-sudanese-population
#9
Afra Hasabelrsoul Ali, Alfadhil Alobeid Omer, Nageeb Suleiman Saeed, Elhag E Mansour, Mogahid Mohammed Elhassan
Background: A variety of genetic mutations are thought to be responsible for acquisition of different infections such as tuberculosis (TB). An obvious example for these variations is the link between pulmonary TB and polymorphisms within interferon-gamma receptor 1 (IFN-γ R1) gene. This project is designed to identify the role of IFN-γR1 gene polymorphism in the development of pulmonary TB among Sudanese patients attending several hospitals in Khartoum State. Methods: One hundred (n = 100) patients with active TB and fifty (n = 50) matched healthy controls were investigated for the association of two genetic polymorphisms within IFN-γR1 gene and their risk of developing pulmonary tuberculosis...
January 2018: International Journal of Mycobacteriology
https://www.readbyqxmd.com/read/29390990/first-molecular-characterization-of-echinococcus-granulosus-sensu-stricto-genotype-1-among-cattle-in-sudan
#10
Mohamed E Ahmed, Bashir Salim, Martin P Grobusch, Imadeldin E Aradaib
BACKGROUND: Echinococcus granulosus sensu lato (s.l.) is the causative agent of cystic echinococcosis (CE), which is a cosmopolitan zoonotic parasitic disease infecting humans and a wide range of mammalian species including cattle. Currently, little information is available on the genetic diversity of Echinococcus species among livestock in Sudan. In the present study, fifty (n = 50) hydatid cysts were collected from cattle carcasses (one cyst sample per animal) at Al-kadarou slaughterhouse, Khartoum North, Sudan...
February 1, 2018: BMC Veterinary Research
https://www.readbyqxmd.com/read/29193305/the-genetically-determined-production-of-the-alarmin-eosinophil-derived-neurotoxin-is-reduced-in-visceral-leishmaniasis
#11
Kristin Blom, Amir I Elshafie, Ulla-Britt Jönsson, Johan Rönnelid, Lena Douhan Håkansson, Per Venge
Visceral leishmaniasis (VL) is the most severe form of leishmaniasis. Recent findings indicate that dendritic cells have a key role in the defense against the Leishmania parasite and that the activity of this cell may be modified by the eosinophil secretory protein eosinophil-derived neurotoxin (EDN). We hypothesized that the interactions between dendritic cells and EDN might be of importance in the disease development. Cellular content of EDN was analyzed by ELISA. The single-nucleotide polymorphisms at positions 405, 416, and 1122 in the EDN gene were analyzed by real-time PCR with TaqMan® reagents...
January 2018: APMIS: Acta Pathologica, Microbiologica, et Immunologica Scandinavica
https://www.readbyqxmd.com/read/28495200/genotyping-of-theileria-lestoquardi-from-sheep-and-goats-in-sudan-to-support-control-of-malignant-ovine-theileriosis
#12
A M Ali, D A Salih, M N Njahira, S K Hassan, A M El Hussein, Z Liu, H Yin, R Pelle, R A Skilton
Theileriosis, caused by parasitic protozoa of the genus Theileria parasites, are among the major tick-borne diseases of ruminant livestock. The largest economic losses are attributed in particular to those caused by the leukoproliferative species of Theileria: T. parva, T. annulata and T. lestoquardi. Theileria lestoquardi is transmitted by Hyalomma ticks and causes malignant ovine theileriosis (MOT), a disease that is particularly prevalent in Sudan. The disease is considered of a high economic importance in Sudan, where export of sheep is a major component of the national economy...
May 30, 2017: Veterinary Parasitology
https://www.readbyqxmd.com/read/28231338/genes-encoding-two-theileria-parva-antigens-recognized-by-cd8-t-cells-exhibit-sequence-diversity-in-south-sudanese-cattle-populations-but-the-majority-of-alleles-are-similar-to-the-muguga-component-of-the-live-vaccine-cocktail
#13
Diaeldin A Salih, Roger Pelle, Joram M Mwacharo, Moses N Njahira, Wani L Marcellino, Henry Kiara, Agol K Malak, Abdel Rahim M El Hussein, Richard Bishop, Robert A Skilton
East Coast fever (ECF), caused by Theileria parva infection, is a frequently fatal disease of cattle in eastern, central and southern Africa, and an emerging disease in South Sudan. Immunization using the infection and treatment method (ITM) is increasingly being used for control in countries affected by ECF, but not yet in South Sudan. It has been reported that CD8+ T-cell lymphocytes specific for parasitized cells play a central role in the immunity induced by ITM and a number of T. parva antigens recognized by parasite-specific CD8+ T-cells have been identified...
2017: PloS One
https://www.readbyqxmd.com/read/27861123/tecrl-a-new-life-threatening-inherited-arrhythmia-gene-associated-with-overlapping-clinical-features-of-both-lqts-and-cpvt
#14
Harsha D Devalla, Roselle Gélinas, Elhadi H Aburawi, Abdelaziz Beqqali, Philippe Goyette, Christian Freund, Marie-A Chaix, Rafik Tadros, Hui Jiang, Antony Le Béchec, Jantine J Monshouwer-Kloots, Tom Zwetsloot, Georgios Kosmidis, Frédéric Latour, Azadeh Alikashani, Maaike Hoekstra, Jurg Schlaepfer, Christine L Mummery, Brian Stevenson, Zoltan Kutalik, Antoine Af de Vries, Léna Rivard, Arthur Am Wilde, Mario Talajic, Arie O Verkerk, Lihadh Al-Gazali, John D Rioux, Zahurul A Bhuiyan, Robert Passier
Genetic causes of many familial arrhythmia syndromes remain elusive. In this study, whole-exome sequencing (WES) was carried out on patients from three different families that presented with life-threatening arrhythmias and high risk of sudden cardiac death (SCD). Two French Canadian probands carried identical homozygous rare variant in TECRL gene (p.Arg196Gln), which encodes the trans-2,3-enoyl-CoA reductase-like protein. Both patients had cardiac arrest, stress-induced atrial and ventricular tachycardia, and QT prolongation on adrenergic stimulation...
December 2016: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/27833652/molecular-detection-of-epstein-barr-virus-in-nasopharyngeal-carcinoma-among-sudanese-population
#15
Ali Edreis, Mona Ali Mohamed, Nouh S Mohamed, Emmanuel E Siddig
BACKGROUND: Nasopharyngeal carcinoma (NPC) is the most common cancer arising from the nasopharynx that varies significantly from other cancers of the head and neck in its occurrence, causes, clinical behavior, and treatment. NPC caused by an interaction between infection with EBV and environmental and genetic factors, encompasses a multistep oncogenic process. The frequency of Epstein-Barr virus EBV among nasopharyngeal carcinoma is well known worldwide, however, in the Sudan there is barely a published data...
2016: Infectious Agents and Cancer
https://www.readbyqxmd.com/read/27793730/full-genome-sequence-analysis-of-a-newly-emerged-qx-like-infectious-bronchitis-virus-from-sudan-reveals-distinct-spots-of-recombination
#16
Mahmoud M Naguib, Dirk Höper, Abdel-Satar Arafa, Ahmed M Setta, Mohamed Abed, Isabella Monne, Martin Beer, Timm C Harder
Infectious bronchitis virus (IBV) infection continues to cause economically important diseases in poultry while different geno- and serotypes continue to circulate globally. Two infectious bronchitis viruses (IBV) were isolated from chickens with respiratory disease in Sudan. Sequence analysis of the hypervariable regions of the S1 gene revealed a close relation to the QX-like genotype which has not been detected in Sudan before. Whole genome analysis of IBV/Ck/Sudan/AR251-15/2014 isolate by next generation sequencing revealed a genome size of 27,646 nucleotides harbouring 13 open reading frames: 5'-1a-1b-S-3a-3b-E-M-4b-4c-5a-5b-N-6b-3'...
December 2016: Infection, Genetics and Evolution
https://www.readbyqxmd.com/read/27601211/hereditary-spastic-paraplegias-identification-of-a-novel-spg57-variant-affecting-tfg-oligomerization-and-description-of-hsp-subtypes-in-sudan
#17
Liena E O Elsayed, Inaam N Mohammed, Ahlam A A Hamed, Maha A Elseed, Adam Johnson, Mathilde Mairey, Hassab Elrasoul S A Mohamed, Mohamed N Idris, Mustafa A M Salih, Sarah M El-Sadig, Mahmoud E Koko, Ashraf Y O Mohamed, Laure Raymond, Marie Coutelier, Frédéric Darios, Rayan A Siddig, Ahmed K M A Ahmed, Arwa M A Babai, Hiba M O Malik, Zulfa M B M Omer, Eman O E Mohamed, Hanan B Eltahir, Nasr Aldin A Magboul, Elfatih E Bushara, Abdelrahman Elnour, Salah M Abdel Rahim, Abdelmoneim Alattaya, Mustafa I Elbashir, Muntaser E Ibrahim, Alexandra Durr, Anjon Audhya, Alexis Brice, Ammar E Ahmed, Giovanni Stevanin
Hereditary spastic paraplegias (HSP) are the second most common type of motor neuron disease recognized worldwide. We investigated a total of 25 consanguineous families from Sudan. We used next-generation sequencing to screen 74 HSP-related genes in 23 families. Linkage analysis and candidate gene sequencing was performed in two other families. We established a genetic diagnosis in six families with autosomal recessive HSP (SPG11 in three families and TFG/SPG57, SACS and ALS2 in one family each). A heterozygous mutation in a gene involved in an autosomal dominant HSP (ATL1/SPG3A) was also identified in one additional family...
January 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27493388/cystic-fibrosis-in-sudanese-children-first-report-of-35-cases
#18
Salah A Ibrahim, Munadhil A Fadl Elmola, Zain A Karrar, Ali M E Arabi, Mohamed A Abdullah, Sulafa K Ali, Fathelrahman Elawad, Tag Elsir A Ali, Mashair B Abdulrahman, Salma O Ahmed, Abelrazzag S Gundi
Cystic fibrosis is the most common severe genetic disorder among children of European descent. It is much less common in Africans and Asians. It affects most critically the lungs causing chronic lung disease, failure to thrive and social deprivation. This is a retrospective review of 35 Sudanese patients with confirmed cystic fibrosis. About 60% of cases presented before the age of 5 years and male to female ratio was 1.7:1.0. Consanguinity was reported in 25 of the families. The main presenting features were productive cough, wheeze and clubbing...
2014: Sudanese Journal of Paediatrics
https://www.readbyqxmd.com/read/27419101/phylogenetic-analysis-of-some-newcastle-disease-virus-isolates-from-the-sudan
#19
N A Elmardi, M A Bakheit, A I Khalafalla
A reverse transcription-polymerase chain reaction (RT-PCR) was used to amplify 1412 bp of the fusion protein gene (F gene) of four Newcastle disease virus (NDV) isolates; two velogenic (TY-1/90 and DIK-90) and two lentogenic isolates (Dongla 88/1 and GD.S.1). Following sequencing, nucleotide sequences were annotated and 894 bp were compared phylogenetically with those from strains previously reported in the Sudan and the virus strains published on the GenBank. It could be demonstrated that TY-1/90 and DIK-90 strains belong to the genotype VI of NDV and are in close genetic relationship to sub- genotype VIb...
2016: Open Veterinary Journal
https://www.readbyqxmd.com/read/26277665/detection-of-chromosome-13-13q14-deletion-among-sudanese-patients-with-multiple-myeloma-using-a-molecular-genetics-fluorescent-in-situ-hybridization-technique-fish
#20
Amar A Dowd, Suzan Homeida, Haram Awad Elkarem
UNLABELLED: Multiple myeloma (MM) is a neoplastic plasma cell dyscrasia with an incidence of 4-4.5 per 100,000 population per year. It is regarded as the second most prevalent blood cancer (10%) after non-Hodgkin lymphoma. The objective of this study was to investigate the mutational change in chromosome 13 (13q14) among Sudanese MM patients and to identify the association between extent of plasma cell infiltration in the bone marrow, albumin level and deletion of 13q14 by an analytical case control study...
August 2015: Malaysian Journal of Pathology
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