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JOURNAL ARTICLE
Yousif Eltohami, Ahmed Suleiman
BACKGROUND: The late presentation and diagnosis of OSCC account for the large number of patients with the advanced form of the disease. In Sudan, cases with delayed presentation, particularly those with risk factors such as Toombak dipping and alcohol consumption, frequently present with extensive lesions and a wide area of Field cancerization which characterized by the presence of genetic and epigenetic changes in histologically normal-appearing tissues, and have increased risk for recurrent and second primary tumors...
April 15, 2024: BMC Cancer
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JOURNAL ARTICLE
Sandra Martins, Ashraf Yahia, Inês P D Costa, Hassab E Siddig, Rayan Abubaker, Mahmoud Koko, Marc Corral-Juan, Antoni Matilla-Dueñas, Alexis Brice, Alexandra Durr, Eric Leguern, Laura P W Ranum, António Amorim, Liena E O Elsayed, Giovanni Stevanin, Jorge Sequeiros
Machado-Joseph disease (MJD/SCA3) is the most frequent dominant ataxia worldwide. It is caused by a (CAG)n expansion. MJD has two major ancestral backgrounds: the Machado lineage, found mainly in Portuguese families; and the Joseph lineage, present in all five continents, probably originating in Asia. MJD has been described in a few African and African-American families, but here we report the first diagnosed in Sudan to our knowledge. The proband presented with gait ataxia at age 24; followed by muscle cramps and spasticity, and dysarthria, by age 26; he was wheel-chair bound at 29 years of age...
November 14, 2023: Human Genetics
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JOURNAL ARTICLE
Anas Al-Jawabreh, Suheir Ereqat, Amer Al-Jawabreh, Ahmed Al-Jawabreh, Hanan Al-Jawabreh, Abedelmajeed Nasereddin
BACKGROUND: Malaria cases in non-endemic zero-indigenous case areas are most likely to have been imported whatever of the route of importation. In countries recently declared malaria-free and now without local transmission, imported cases remain a threat to re-introduction of the disease and a burden on the health system. CASE PRESENTATION: Three days after returning from a long trip to malaria- endemic countries; Abyei-Sudan, Chad and Uganda, a 41-year-old male resident from Jericho, Palestine, suffered paroxysms of fever, general fatigue, myalgia, arthralgia, headache, and a strong desire to vomit...
September 18, 2023: BMC Infectious Diseases
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JOURNAL ARTICLE
Momtaz A Shahein, Heba A Hussein, M H Ali, Shimaa M Ghoniem, Omayma A Shemies, Ahmed F Afify, Amthal Ahmed Fuoad, Ayah M Hassan, Mostafa R Zaher, Nahla Hussien AbouEl Ela, Ahmed R Habashi, Samah Eid, Naglaa M Hagag
BACKGROUND AND AIM: Foot-and-mouth disease (FMD) virus causes continuous outbreaks, leading to serious economic consequences that affect animal productivity and restrict trade movement. The potential influence of the disease was due to the emergence of new strains or re-emergence of local strains with major antigenic variations due to genetic mutations. This study aims to evaluate circulating virus in samples collected from infected animals during an outbreak using antigenic characterization and identify whether there is an emergence of a new strain or mutation...
2023: Veterinary World
#5
JOURNAL ARTICLE
Izzeldin Elbashir, Tagwa Yousif Elsayed Yousif
BACKGROUND AND PURPOSE: Sickle cell disease (SCD) is an inherited hemoglobin disease affecting the red cells and causing hemolytic anemia. It is a very common, endemic disease in Sudan, particularly in the central and western areas of Sudan. Sickle cell anemia (SCA) is when the patient has beta-globin gene variant (Hb S variant). In this study, we screened the co-inheritance of hemoglobin O-Arab mutation among Sudanese sickle cell disease patients. STUDY POPULATION AND METHODS: This cross-sectional study was conducted in the Sudan-Khartoum state from November 2016 to December 2021...
2023: International Journal of General Medicine
#6
JOURNAL ARTICLE
Nazik Elmalaika Husain, Ihsan Mohamed Osman, Ahmed Khalid, Ali Abdel Satir, Robert Stoehr, Abbas Agaimy
BACKGROUND: Determining the risk of malignant behaviour and mutational status of gastrointestinal stromal tumours (GISTs) guide the management decision and allow optimal individualized patient treatment. OBJECTIVES: To determine clinicopathological, immunohistochemical (IHC), risk and KIT mutational findings of GISTs in Sudanese patients. METHODS: Histological slides were reviewed, IHC for DOG-1 and CD117 performed and hotspot KIT mutations examined...
March 2023: African Health Sciences
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Rachel Sze Hui Wong, Shekeeb Mohammad, Bindu Parayil Sankaran, Rosie Junek, Won-Tae Kim, Tiffany Wotton, Sushil Bandodkar, Shanti Balasubramaniam
BACKGROUND: Hyperphenylalaninemia is a biomarker for several monogenic neurotransmitter disorders where the body cannot metabolise phenylalanine to tyrosine. Biallelic pathogenic variants in DNAJC12, co-chaperone of phenylalanine, tyrosine, and tryptophan hydroxylases, leads to hyperphenylalaninemia and biogenic amines deficiency. METHODS AND RESULTS: A male firstborn to non-consanguineous Sudanese parents had hyperphenylalaninemia 247 µmol/L [reference interval (RI) < 200 µmol/L] at newborn screening...
May 6, 2023: Brain & Development
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JOURNAL ARTICLE
Altaf S Mosad, Ghada A Elfadil, Alsadig Gassoum, Khanssa M Elamin, Nazik Elmalaika Obaid Seid Ahmed Husain
RESULTS: There is a significant difference in genotypic frequencies of the rs266729, rs2241766, and rs1501299 SNPs and allele frequencies ( P < 0.05) between the MetS patients and non-MetS group. MetS patients had a significantly higher serum triglycerides (TG), total cholesterol (TC), and low-density lipoprotein-cholesterol (LDL-C) in the GG genotype of rs2241766 ( P < 0.05). Additionally; the TT genotype of rs1501299 had higher SBP, serum TG, TC, and LDL-C ( P < 0...
2023: International Journal of Endocrinology
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JOURNAL ARTICLE
Yousuf Bakhit, Christelle Tesson, Mohamed O Ibrahim, Khalid Eltom, Isra Eltazi, Liena E O Elsayed, Suzanne Lesage, Osheik Seidi, Jean-Christophe Corvol, Ullrich Wüllner
INTRODUCTION: The phospholipase A2 group VI gene (PLA2G6) encodes an enzyme that catalyzes the hydrolytic release of fatty acids from phospholipids. Four neurological disorders with infantile, juvenile, or early adult-onset are associated with PLA2G6 genetic alterations, namely infantile neuroaxonal dystrophy (INAD), atypical neuroaxonal dystrophy (ANAD), dystonia-parkinsonism (DP), and autosomal recessive early-onset parkinsonism (AREP). Few studies in Africa reported PLA2G6-associated disorders and none with parkinsonism of late adult onset...
May 3, 2023: Annals of Clinical and Translational Neurology
#10
Omaima Abdelmajeed, Muna Mohammed Dawoud Ali, Nahla Hashim Erwa, Alamin Mustafa, Yassin Abdelraheem Ahmed, Rogaia Hasap Alrasoul Ahmed, Hala Hamza Eltayeb Mohammed, Malaz Elsadeg Hassan, Monzir Ahmed, Shima Algam
INTRODUCTION: Mendelian susceptibility to mycobacterial disease (MSMD) is a rare inherited condition characterized by selective susceptibility to weakly virulent mycobacteria, such as substrains of the bacille Calmette-Guérin (BCG) vaccine and different environmental mycobacteria. CASE PRESENTATION: A 7-year-old Sudanese boy was referred to the immunology clinic with a suspected diagnosis of MSMD. This followed multiple presentations with disseminated tuberculosis and typhoid fever...
2023: Frontiers in Immunology
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JOURNAL ARTICLE
Najwa A Mhmoud
BACKGROUND: Genetic factors are important contributors to the development of a wide range of complex disease. Polymorphisms in genes encoding for toll-like receptors (TLRs) usually influence the efficiency of the immune response to infection and are associated with disease susceptibility and progression. Therefore, we aim to describe the first association between TLR1, TLR2, TLR4 TLR6, TLR8, TLR9 and TLR10 genes polymorphisms and susceptibility to pulmonary tuberculosis (PTB) in Sudanese patients...
2023: ImmunoTargets and Therapy
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JOURNAL ARTICLE
Ashraf Yahia, Ahlam A A Hamed, Inaam N Mohamed, Maha A Elseed, Mustafa A Salih, Sarah M El-Sadig, Hassab Elrasoul Siddig, Ali Elsir Musa Nasreldien, Mohamed Ahmed Abdullah, Maha Elzubair, Farouk Yassen Omer, Aisha Motwakil Bakhiet, Rayan Abubaker, Fatima Abozar, Rawaa Adil, Sara Emad, Mhammed Alhassan Musallam, Isra Z M Eltazi, Zulfa Omer, Hiba Malik, Mayada O E Mohamed, Ali A Elhassan, Eman O E Mohamed, Ahmed K M A Ahmed, Elhami A A Ahmed, Esraa Eltaraifee, Bidour K Hussein, Amal S I Abd Allah, Lina Salah, Mohamed Nimir, Omnia M Tag Elseed, Tasneem E A Elhassan, Abubakr Elbashier, Esraa S A Alfadul, Moneeb Fadul, Khalil F Ali, Shaimaa Omer M A Taha, Elfatih E Bushara, Mutaz Amin, Mahmoud Koko, Muntaser E Ibrahim, Ammar E Ahmed, Liena E O Elsayed, Giovanni Stevanin
Hereditary spinocerebellar degenerations (SCDs) is an umbrella term that covers a group of monogenic conditions that share common pathogenic mechanisms and include hereditary spastic paraplegia (HSP), cerebellar ataxia, and spinocerebellar ataxia. They are often complicated with axonal neuropathy and/or intellectual impairment and overlap with many neurological conditions, including neurodevelopmental disorders. More than 200 genes and loci inherited through all modes of Mendelian inheritance are known. Autosomal recessive inheritance predominates in consanguineous communities; however, autosomal dominant and X-linked inheritance can also occur...
April 3, 2023: European Journal of Human Genetics: EJHG
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JOURNAL ARTICLE
Anke Fähnrich, Isabel Stephan, Misa Hirose, Franziska Haarich, Mosab Ali Awadelkareem, Saleh Ibrahim, Hauke Busch, Inken Wohlers
INTRODUCTION: Mitochondria are maternally inherited cell organelles with their own genome, and perform various functions in eukaryotic cells such as energy production and cellular homeostasis. Due to their inheritance and manifold biological roles in health and disease, mitochondrial genetics serves a dual purpose of tracing the history as well as disease susceptibility of human populations across the globe. This work requires a comprehensive catalogue of commonly observed genetic variations in the mitochondrial DNAs for all regions throughout the world...
January 31, 2023: Journal of Advanced Research
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JOURNAL ARTICLE
Sara MohammedAhmed Gafar, Ghassan Faisal Fadlalbari, Asmahan T Abdalla, Sawsan Abdel Rahim Mohammed, Mohammed Khalid Alrasheed, Isam Ahmed Taha, Mohamed Ahmed Abdullah
BACKGROUND: Juvenile primary hyperparathyroidism (PHPT) is a rare endocrine disease. Its diagnosis might be masked by clinical, biochemical, and radiological features of rickets. CASE PRESENTATION: A 12-year-old Sudanese boy presented with progressive lower limbs deformity and difficulty in walking for six months. It was associated with fatigability, poor appetite, and generalized bone pain. On examination, he was thin, disproportionately short and pubertal, and had bilateral genu valgum deformity...
December 19, 2022: BMC Endocrine Disorders
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JOURNAL ARTICLE
Asmahan T Abdalla, Marijke Koedam, Sten L S Drop, Annemieke M Boot, Mohamed A Abdullah, Bram C J van der Eerden
The aim of this study was to identify the genetic basis of two female siblings - born to consanguineous Sudanese parents - diagnosed clinically as having the rare condition of 25-hydroxylase deficiency (vitamin D-dependent rickets type 1B). The initial diagnosis was established based on clinical data, laboratory and radiological findings retrospectively. Primers for all exons (5) of human CYP2R1 (NM_024514) were generated followed by Sanger sequencing on exons 1-5 for both girls and their parents. Homozygosity for a point mutation (c...
August 13, 2022: Gene
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JOURNAL ARTICLE
Abdulfatai Tijjani, Bashir Salim, Marcos Vinicius Barbosa da Silva, Hamza A Eltahir, Taha H Musa, Karen Marshall, Olivier Hanotte, Hassan H Musa
BACKGROUND: Indigenous Sudanese cattle are mainly indicine/zebu (humped) type. They thrive in the harshest dryland environments characterised by high temperatures, long seasonal dry periods, nutritional shortages, and vector disease challenges. Here, we sequenced 60 indigenous Sudanese cattle from six indigenous breeds and analysed the data using three genomic scan approaches to unravel cattle adaptation to the African dryland region. RESULTS: We identified a set of gene-rich selective sweep regions, detected mostly on chromosomes 5, 7 and 19, shared across African and Gir zebu...
July 5, 2022: Genomics
#17
JOURNAL ARTICLE
Inas Elsayed, Robert Geraghty, Salwa O Mekki, Ahmed A Mohamedani, Susan Ahern, Omer E H Salim, Balgis B M Khalil, Sawsan Abdelrahim, Suliman H Suliman, Moawia M A Elhassan, Salah O Salah, Mohamed E Salih, Abubakr H Widatalla, Osman S Abdelhamed, Xiaosheng Wang, Éanna J Ryan, Des Winter, Salih Bakhiet, Kieran Sheahan
Molecular pathology services for colorectal cancer (CRC) in Sudan represent a significant unmet clinical need. In a retrospective cohort study involving 50 patients diagnosed with CRC at three major medical settings in Sudan, we aimed to outline the introduction of a molecular genetic service for CRC in Sudan, and to explore the CRC molecular features and their relationship to patient survival and clinicopathological characteristics. Mismatch repair (MMR) and BRAF (V600E) mutation status were determined by immunohistochemistry...
June 29, 2022: Scientific Reports
#18
Mutaz Amin, Cedric Vignal, Ahlam A A Hamed, Inaam N Mohammed, Maha A Elseed, Rayan Abubaker, Yousuf Bakhit, Arwa Babai, Eman Elbadi, Esraa Eltaraifee, Doua Mustafa, Ashraf Yahia, Melka Osman, Mahmoud Koko, Mohamed Mustafa, Mohamed Alsiddig, Sahwah Haroun, Azza Elshafea, Severine Drunat, Liena E O Elsayed, Ammar E Ahmed, Odile Boespflug-Tanguy, Imen Dorboz
Pontocerebellar hypoplasia type 10 (PCH10) is a very rare autosomal recessive neurodegenerative disease characterized by intellectual disability, microcephaly, severe developmental delay, pyramidal signs, mild cerebellar atrophy, and white matter changes in the brain, as shown by magnetic resonance imaging (MRI). The disease has been described in only twenty-one patients from ten Turkish families with a founder missense pathogenic variant in the CLP1 gene involved in tRNA processing and maturation. We analyzed three siblings from a consanguineous Sudanese family who presented with intellectual disability, dysmorphic features, developmental delay, regression of milestones, microcephaly, epilepsy, extrapyramidal signs, mild pontine, and cerebellar atrophy...
2022: Frontiers in Genetics
#19
JOURNAL ARTICLE
Alawia N Elasam, Mohamed A Ahmed, Abdel B A Ahmed, Manal E Sharif, Abdalla Abusham, Bahaeldin Hassan, Ishag Adam
BACKGROUND: Polycystic ovary syndrome (PCOS) is a global health problem associated with significant morbidity during reproductive age. Only a few published studies that address the clinical manifestations and phenotypic presentation of the disease have been conducted in Africa, including Sudan. Thus, this study aimed to evaluate the clinical and biochemical presentation of the different PCOS phenotypes among infertile Sudanese women. METHODS: A cross-sectional, descriptive study was conducted from January to December 2019...
May 13, 2022: BMC Women's Health
#20
JOURNAL ARTICLE
Omer Ali Mohamed Ahmed Elawad, Mumen Abdalazim Dafallah, Mohammed Mahgoub Mirghani Ahmed, Ahmed Abdalazim Dafallah Albashir, Sahar Mohammed Abbas Abdalla, Habiballa Hago Mohamed Yousif, Anwar Ali Elamin Daw Elbait, Moawia Elbalal Mohammed, Hassan Ismail Hassan Ali, Mohamed Mutasim Mohamed Ahmed, Najla Fouad Nassir Mohammed, Fadwa Hashim Mohamed Osman, Mussab Alnazeer Yousif Mohammed, Ejlal Ahmed Ebrahim Abu Shama
BACKGROUND: Bardet-Biedl syndrome is a rare multisystem autosomal recessive disorder that falls under the spectrum of ciliopathy disorders. It is characterized by rod-cone dystrophy, renal malformations, polydactyly, learning difficulties, central obesity, and hypogonadism. Many minor features that are related with Bardet-Biedl syndrome might aid in diagnosis and are crucial in clinical management. Bardet-Biedl syndrome is diagnosed on the basis of clinical signs and symptoms, which can be confirmed by genetic testing...
April 29, 2022: Journal of Medical Case Reports
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